LOCUS       NM_080680               6422 bp    mRNA    linear   PRI 07-DEC-2024
DEFINITION  Homo sapiens collagen type XI alpha 2 chain (COL11A2), transcript
            variant 1, mRNA.
ACCESSION   NM_080680
VERSION     NM_080680.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6422)
  AUTHORS   Mutlu,H., Elcioglu,N. and Kilic,E.
  TITLE     Autosomal recessive otospondylo-mega-epiphyseal dysplasia:
            comprehensive clinical review of a pediatric cohort
  JOURNAL   Clin Dysmorphol 32 (4), 151-155 (2023)
   PUBMED   37646720
  REMARK    GeneRIF: Autosomal recessive otospondylo-mega-epiphyseal dysplasia:
            comprehensive clinical review of a pediatric cohort.
REFERENCE   2  (bases 1 to 6422)
  AUTHORS   Rebello,D., Wohler,E., Erfani,V., Li,G., Aguilera,A.N.,
            Santiago-Cornier,A., Zhao,S., Hwang,S.W., Steiner,R.D., Zhang,T.J.,
            Gurnett,C.A., Raggio,C., Wu,N., Sobreira,N., Giampietro,P.F. and
            Ciruna,B.
  TITLE     COL11A2 as a candidate gene for vertebral malformations and
            congenital scoliosis
  JOURNAL   Hum Mol Genet 32 (19), 2913-2928 (2023)
   PUBMED   37462524
  REMARK    GeneRIF: COL11A2 as a candidate gene for vertebral malformations
            and congenital scoliosis.
REFERENCE   3  (bases 1 to 6422)
  AUTHORS   Beckley,S., Dey,R., Stinton,S., van der Merwe,W., Branch,T.,
            September,A.V., Posthumus,M. and Collins,M.
  TITLE     The Association of Variants within Types V and XI Collagen Genes
            with Knee Joint Laxity Measurements
  JOURNAL   Genes (Basel) 13 (12), 2359 (2022)
   PUBMED   36553626
  REMARK    GeneRIF: The Association of Variants within Types V and XI Collagen
            Genes with Knee Joint Laxity Measurements.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 6422)
  AUTHORS   Lui,V.C., Ng,L.J., Sat,E.W., Nicholls,J. and Cheah,K.S.
  TITLE     Extensive alternative splicing within the amino-propeptide coding
            domain of alpha2(XI) procollagen mRNAs. Expression of transcripts
            encoding truncated pro-alpha chains
  JOURNAL   J Biol Chem 271 (28), 16945-16951 (1996)
   PUBMED   8663204
REFERENCE   5  (bases 1 to 6422)
  AUTHORS   Lui,V.C., Ng,L.J., Sat,E.W. and Cheah,K.S.
  TITLE     The human alpha 2(XI) collagen gene (COL11A2): completion of coding
            information, identification of the promoter sequence, and precise
            localization within the major histocompatibility complex reveal
            overlap with the KE5 gene
  JOURNAL   Genomics 32 (3), 401-412 (1996)
   PUBMED   8838804
REFERENCE   6  (bases 1 to 6422)
  AUTHORS   Vuristo,M.M., Pihlajamaa,T., Vandenberg,P., Prockop,D.J. and
            Ala-Kokko,L.
  TITLE     The human COL11A2 gene structure indicates that the gene has not
            evolved with the genes for the major fibrillar collagens
  JOURNAL   J Biol Chem 270 (39), 22873-22881 (1995)
   PUBMED   7559422
REFERENCE   7  (bases 1 to 6422)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
REFERENCE   8  (bases 1 to 6422)
  AUTHORS   Mortier,G.
  TITLE     Stickler Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301479
REFERENCE   9  (bases 1 to 6422)
  AUTHORS   Hanson,I.M., Gorman,P., Lui,V.C., Cheah,K.S., Solomon,E. and
            Trowsdale,J.
  TITLE     The human alpha 2(XI) collagen gene (COL11A2) maps to the
            centromeric border of the major histocompatibility complex on
            chromosome 6
  JOURNAL   Genomics 5 (4), 925-931 (1989)
   PUBMED   2591970
REFERENCE   10 (bases 1 to 6422)
  AUTHORS   Kimura,T., Cheah,K.S., Chan,S.D., Lui,V.C., Mattei,M.G., van der
            Rest,M., Ono,K., Solomon,E., Ninomiya,Y. and Olsen,B.R.
  TITLE     The human alpha 2(XI) collagen (COL11A2) chain. Molecular cloning
            of cDNA and genomic DNA reveals characteristics of a fibrillar
            collagen with differences in genomic organization
  JOURNAL   J Biol Chem 264 (23), 13910-13916 (1989)
   PUBMED   2760050
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL645940.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 25, 2019 this sequence version replaced NM_080680.2.
            
            Summary: This gene encodes one of the two alpha chains of type XI
            collagen, a minor fibrillar collagen. It is located on chromosome 6
            very close to but separate from the gene for retinoid X receptor
            beta. Type XI collagen is a heterotrimer but the third alpha chain
            is a post-translationally modified alpha 1 type II chain.
            Proteolytic processing of this type XI chain produces PARP, a
            proline/arginine-rich protein that is an amino terminal domain.
            Mutations in this gene are associated with type III Stickler
            syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome),
            Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic
            sensorineural type 13 deafness (DFNA13), and autosomal recessive
            non-syndromic sensorineural type 53 deafness (DFNB53). Alternative
            splicing results in multiple transcript variants. A related
            pseudogene is located nearby on chromosome 6. [provided by RefSeq,
            Jul 2009].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1). There are no
            publicly available human transcripts representing the full-length
            exon combination of this variant, but the region of variation is
            supported by experimental data in PMIDs 8663204 and 8838804, by
            homology data in mouse, and the full-length sequence is represented
            in accession U32169.1:AAC50214.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038191.2306217.1,
                                           SRR18074969.228087.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000341947.7/ ENSP00000339915.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-309               AL645940.4         77196-77504         c
            310-459             AL645940.4         74357-74506         c
            460-670             AL645940.4         74015-74225         c
            671-833             AL645940.4         73399-73561         c
            834-1025            AL645940.4         71664-71855         c
            1026-1103           AL645940.4         70738-70815         c
            1104-1166           AL645940.4         70029-70091         c
            1167-1346           AL645940.4         69182-69361         c
            1347-1406           AL645940.4         66148-66207         c
            1407-1448           AL645940.4         66001-66042         c
            1449-1511           AL645940.4         65705-65767         c
            1512-1586           AL645940.4         65295-65369         c
            1587-1673           AL645940.4         64756-64842         c
            1674-1730           AL645940.4         64468-64524         c
            1731-1784           AL645940.4         64268-64321         c
            1785-1838           AL645940.4         64110-64163         c
            1839-1892           AL645940.4         63957-64010         c
            1893-1946           AL645940.4         63716-63769         c
            1947-2000           AL645940.4         63472-63525         c
            2001-2045           AL645940.4         63345-63389         c
            2046-2099           AL645940.4         63169-63222         c
            2100-2144           AL645940.4         62699-62743         c
            2145-2198           AL645940.4         62449-62502         c
            2199-2243           AL645940.4         62218-62262         c
            2244-2297           AL645940.4         62029-62082         c
            2298-2342           AL645940.4         61758-61802         c
            2343-2396           AL645940.4         61470-61523         c
            2397-2441           AL645940.4         61296-61340         c
            2442-2495           AL645940.4         61053-61106         c
            2496-2603           AL645940.4         60611-60718         c
            2604-2657           AL645940.4         59564-59617         c
            2658-2711           AL645940.4         59202-59255         c
            2712-2756           AL645940.4         59048-59092         c
            2757-2810           AL645940.4         58910-58963         c
            2811-2855           AL645940.4         58738-58782         c
            2856-2909           AL645940.4         58539-58592         c
            2910-2963           AL645940.4         58385-58438         c
            2964-3017           AL645940.4         58097-58150         c
            3018-3125           AL645940.4         57567-57674         c
            3126-3215           AL645940.4         57326-57415         c
            3216-3269           AL645940.4         57087-57140         c
            3270-3377           AL645940.4         56750-56857         c
            3378-3485           AL645940.4         56504-56611         c
            3486-3539           AL645940.4         56308-56361         c
            3540-3593           AL645940.4         56151-56204         c
            3594-3701           AL645940.4         55847-55954         c
            3702-3755           AL645940.4         55594-55647         c
            3756-3809           AL645940.4         55363-55416         c
            3810-3863           AL645940.4         55084-55137         c
            3864-3917           AL645940.4         54868-54921         c
            3918-4025           AL645940.4         54420-54527         c
            4026-4079           AL645940.4         53992-54045         c
            4080-4133           AL645940.4         53743-53796         c
            4134-4187           AL645940.4         53556-53609         c
            4188-4241           AL645940.4         52836-52889         c
            4242-4349           AL645940.4         52463-52570         c
            4350-4403           AL645940.4         52301-52354         c
            4404-4457           AL645940.4         52107-52160         c
            4458-4565           AL645940.4         51757-51864         c
            4566-4619           AL645940.4         51550-51603         c
            4620-4655           AL645940.4         51208-51243         c
            4656-4709           AL645940.4         50968-51021         c
            4710-4977           AL645940.4         50586-50853         c
            4978-5090           AL645940.4         49889-50001         c
            5091-5297           AL645940.4         49304-49510         c
            5298-6422           AL645940.4         47731-48855         c
FEATURES             Location/Qualifiers
     source          1..6422
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.32"
     gene            1..6422
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /note="collagen type XI alpha 2 chain"
                     /db_xref="GeneID:1302"
                     /db_xref="HGNC:HGNC:2187"
                     /db_xref="MIM:120290"
     exon            1..309
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     CDS             228..5438
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; collagen alpha-2(XI) chain; pro-a2 chain of
                     collagen type XI; collagen, type XI, alpha 2"
                     /codon_start=1
                     /product="collagen alpha-2(XI) chain isoform 1
                     preproprotein"
                     /protein_id="NP_542411.2"
                     /db_xref="GeneID:1302"
                     /db_xref="HGNC:HGNC:2187"
                     /db_xref="MIM:120290"
                     /translation="MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLP
                     DGVRRAKGICPADVAYRVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLT
                     LYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQS
                     VTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAY
                     ESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYE
                     PPYYDVMTTGTTPDYQDPTPGEEEEILESSLLPPLEEEQTDLQVPPTADRFQAEEYGE
                     GGTDPPEGPYDYTYGYGDDYREETELGPALSAETAHSGAAAHGPRGLKGEKGEPAVLE
                     PGMLVEGPPGPEGPAGLIGPPGIQGNPGPVGDPGERGPPGRAGLPGSDGAPGPPGTSL
                     MLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPGPMGYTGRPGPLGQPGSPG
                     LKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGFDGLPGL
                     PGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPP
                     GVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPG
                     MPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGE
                     DGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPTGDPGPPGLMGEKGKLGVP
                     GLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGERGPTGPRGQRGPRGATG
                     KSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPPGPPGKDGLPGHPGQRGEVGF
                     QGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPP
                     GAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIG
                     PPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGE
                     VGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAKGDEGTR
                     GFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPPGGVG
                     NLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDDGP
                     KGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKR
                     GPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQG
                     RPGATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGP
                     QGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHP
                     GPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLRE
                     EIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGE
                     TCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRG
                     ANEDELSPETSPYVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGG
                     VLLGPVCFMG"
     exon            310..459
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            460..670
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            671..833
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            834..1025
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1103
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1104..1166
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1167..1346
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1347..1406
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1407..1448
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1449..1511
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1512..1586
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1587..1673
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1674..1730
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1731..1784
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1785..1838
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1839..1892
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1893..1946
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            1947..2000
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2001..2045
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2046..2099
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2100..2144
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2145..2198
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2199..2243
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2244..2297
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2298..2342
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2343..2396
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2397..2441
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2442..2495
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2496..2603
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2604..2657
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2658..2711
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2712..2756
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2757..2810
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2811..2855
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2856..2909
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2910..2963
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            2964..3017
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            3018..3125
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            3126..3215
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            3216..3269
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            3270..3377
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            3378..3485
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            3486..3539
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            3540..3593
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            3594..3701
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            3702..3755
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            3756..3809
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            3810..3863
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            3864..3917
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            3918..4025
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            4026..4079
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            4080..4133
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            4134..4187
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            4188..4241
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            4242..4349
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            4350..4403
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            4404..4457
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            4458..4565
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            4566..4619
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            4620..4655
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            4656..4709
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            4710..4977
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            4978..5090
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            5091..5297
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     exon            5298..6422
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6400..6405
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /note="hexamer: AATAAT"
     polyA_site      6422
                     /gene="COL11A2"
                     /gene_synonym="DFNA13; DFNB53; FBCG2; HKE5; OSMEDA;
                     OSMEDB; PARP; STL3"
                     /note="major polyA site"
ORIGIN      
        1 acacagaagc ggcagccacc gaggagggag cagtgccggg agccccgacg gcgccttgct
       61 gcatggagct gggccgctga cagctgtcgc tgcccgcagc ctctgacctc cctgggaccc
      121 cggcgtctga ggctcatagt ctgctccctg tcttctgtca gcctcagggc atccagcgtc
      181 tcaggccgac ctgggtccct gggacccggc gtttcggctt ctcagccatg gagcggtgca
      241 gccgctgcca tcgcctcctc ctcctcctac ctctggtgct ggggctgagc gcggccccag
      301 gctgggcagg tgcaccccct gtggatgtgc tccgggccct gaggttcccc tccctccctg
      361 atggtgtccg gagagcgaaa ggcatctgtc cagctgatgt ggcctaccga gtggcacgac
      421 ctgcccagct cagtgcaccc actcgccagc ttttcccagg aggatttccc aaagatttct
      481 ctctgctgac tgttgtccgg acccgccctg gtctccaagc tcccctcctg actctctaca
      541 gtgcccaggg tgtccgacag ctgggcctgg agctgggccg acctgtccgc ttcctgtatg
      601 aagaccagac tgggcggcct caacctccct ctcagccagt cttccgaggc ctcagcctag
      661 cagatggcaa gtggcaccgt gtggctgtgg ctgtgaaggg ccagtctgtc accctcattg
      721 ttgactgcaa gaagcgagtc acccggcctc tcccccgaag tgctcgtcca gtattggaca
      781 cccatggagt gatcatcttt ggtgcccgta ttctggatga agaagtcttt gagggtgatg
      841 tccaggagct ggccattgtc ccaggggtcc aggcagccta tgaatcatgt gaacagaagg
      901 agctggaatg cgaggggggc cagagggaaa gaccccaaaa ccaacagcct cacagagccc
      961 agagatctcc acagcagcaa ccatcaagac ttcacaggcc acaaaatcag gaaccccaga
     1021 gccagcccac tgagtctctc tactatgact acgagccccc ctattatgat gtgatgacta
     1081 cggggacaac ccctgattat caggacccca ccccaggtga agaggaagaa atcctggagt
     1141 cgagcctctt gccacccctt gaggaggagc agacagatct ccaggtcccc cccacagccg
     1201 acaggttcca ggcagaggaa tatggggagg gtggcacaga cccccctgaa gggccctacg
     1261 attacaccta tggctatggg gatgattatc gtgaggagac agagcttggc cctgccctct
     1321 ctgcggagac agcccactca ggagccgctg cccatggacc ccgagggctg aagggagaga
     1381 aaggagagcc tgcagtgttg gaacctggta tgctcgtgga ggggccccct ggcccagaag
     1441 gccctgcggg attgattggt ccccctggca tccaggggaa cccaggccca gttggagacc
     1501 ctggagagag gggcccccct ggccgagcag ggctccctgg atcagatggg gctcctggtc
     1561 ctcctggcac atctctcatg ctcccattcc ggtttggcag tggtgggggt gacaagggcc
     1621 ctgtggtggc ggcccaggag gctcaggccc aggcgatcct gcagcaggcg aggctggcgc
     1681 tccgtggacc ccctggcccc atgggataca cagggcgccc tggacccttg ggccaacctg
     1741 ggagccctgg cctgaaagga gagtctggag acttaggacc tcagggcccc agaggacctc
     1801 agggcctcac aggccctcct ggcaaggctg ggcgaagggg ccgggcaggt gctgatggag
     1861 cccgagggat gcctggagat cctggagtga agggtgaccg aggttttgat ggactcccag
     1921 ggctccctgg agagaagggc cataggggtg atactggtgc ccagggcctt cctggtcccc
     1981 ctggtgagga tggagagagg ggagatgacg gggagattgg gcctcgaggg ctgcctggag
     2041 agtcgggacc tcgaggtctc cttggcccca aaggcccacc tggtattcct ggaccccctg
     2101 gcgtccgagg catggatggt ccccagggcc ccaaagggag cttgggaccc cagggagagc
     2161 caggacctcc tggacaacag ggcacccctg ggacccaggg tcttcccggg ccccagggtg
     2221 ccatcggccc tcatggagag aagggtcctc aagggaagcc agggctcccc ggcatgcctg
     2281 gctcagacgg acccccgggt cacccaggga aggaaggtcc ccctggaacc aaaggaaacc
     2341 agggtccctc tggacctcag ggacctctag gatacccagg acctcgaggg gtcaagggtg
     2401 tggacggaat tcggggtctg aagggtcata agggtgagaa gggtgaggat ggctttcctg
     2461 ggttcaaagg tgacataggc gtgaaaggtg acaggggcga agttggagtc cctggttcca
     2521 ggggagagga tggtcctgag gggccaaagg gacgcactgg accgactgga gaccctgggc
     2581 ccccagggct catgggcgag aagggcaagc tgggtgttcc tggtctgcct ggctatcctg
     2641 gacgtcaggg acccaagggg tccctaggat ttcctggctt tcctggtgcc agtggagaga
     2701 agggagcccg gggcctgtcg gggaagtcag ggcctcgggg agaacggggc cccacgggtc
     2761 cacggggtca gcggggaccc cgaggtgcca ctgggaagtc tggagctaag ggaacatctg
     2821 gtggtgatgg cccccatggg ccccctggag agaggggcct ccctggacct cagggtccca
     2881 acgggtttcc tggaccgaaa ggacccccgg gcccccctgg gaaggatggg ctgccgggac
     2941 acccaggcca aagaggagaa gtgggtttcc aagggaagac cggcccccct ggtcctccag
     3001 gagtggtggg acctcaggga gcagcaggag aaaccggccc tatgggggag agaggtcacc
     3061 caggcccccc ggggccccct ggagagcagg gactacctgg gacagctgga aaagaaggaa
     3121 caaagggtga ccctggtccc cctggggccc cagggaagga tggtcctgct ggtctgaggg
     3181 gattcccagg agagagaggc ctcccaggca ctgctggtgg acctggtttg aaggggaatg
     3241 aaggtccgtc tggcccccct ggccctgcag gctcccctgg ggaacgaggt gcagcaggat
     3301 cagggggacc cattggtccg ccagggcgcc caggcccgca gggtccccct ggagcagcag
     3361 gagagaaagg tgtcccaggt gagaagggcc ccattggccc gactggccga gatggagtgc
     3421 agggtcctgt ggggcttcct ggtcctgctg ggcctccagg tgtggctgga gaggatggag
     3481 acaagggtga ggtgggggac cccggacaga agggcaccaa agggaacaag ggtgaacatg
     3541 gccctcctgg accccctgga cccattggtc ctgtggggca gcctggagca gcgggagcag
     3601 atggggagcc cggagctcgg ggaccccagg gacactttgg agccaaaggt gatgaaggaa
     3661 caagaggatt caatgggccc ccaggaccca ttggcctaca gggtttgcca ggcccctctg
     3721 gggagaaggg agaaacagga gatgtgggtc ctatgggacc acctggcccc ccaggacctc
     3781 gaggtccagc tggacccaat ggcgctgatg gcccacaagg tcccccagga ggtgttggga
     3841 acctgggtcc ccctggagag aagggggaac caggagagtc aggatctcca gggatccagg
     3901 gcgagccagg tgtcaagggt ccacgcgggg aacgtggaga gaaaggagag tcggggcagc
     3961 caggagagcc agggccacca gggcctaaag gccccacagg cgatgatggc cccaaaggga
     4021 accctggtcc tgttggtttt cctggtgacc ctggcccccc tggagaaggt ggccctcggg
     4081 gccaggatgg tgctaagggt gaccgaggcg aggatggtga gccaggacag cctggatccc
     4141 ctggtcccac cggggagaat ggacccccag ggccacttgg aaagcgaggt cctgctggct
     4201 cgcctggttc cgaggggcga caaggaggga agggagccaa gggagatcct ggcgctatag
     4261 gtgccccggg gaagacaggc ccggtgggtc ctgcaggccc agcagggaaa cctggccctg
     4321 atggtctgag ggggctccca ggctcagtgg gtcagcaagg ccgacctgga gctacaggcc
     4381 aggctgggcc cccaggtcct gtgggacccc cagggctgcc tggtctccgg ggcgatgctg
     4441 gagccaaggg agagaagggc cacccaggtc tcattggact gattgggccc ccgggtgagc
     4501 agggagagaa gggagatcgg ggacttcctg ggcctcaggg ctcccctggg cagaagggtg
     4561 agatgggtat cccaggagca tccggcccca ttggtcctgg aggtcccccc ggcctccccg
     4621 gacctgctgg ccccaaagga gccaaaggag ccacaggccc aggcggaccc aagggagaga
     4681 agggtgtgca gggccctcca ggacacccgg gtcccccagg cgaggtgatc cagccactgc
     4741 ccattcagat gcccaagaag actcggcgct cggtggatgg aagccgtctg atgcaggaag
     4801 atgaggccat accgaccggg ggagcccccg gcagtcctgg ggggctggag gagatctttg
     4861 gctcactcga ctccctgcgg gaggagatcg agcagatgag gcggccaaca gggacccagg
     4921 acagccctgc tcgcacctgc caggacctga agctgtgcca cccagagctt cccgatggag
     4981 agtactgggt cgaccccaac cagggctgtg ctcgggatgc cttccgagtt ttctgcaact
     5041 tcacagcagg gggtgagacc tgtgtgacgc ctagggatga cgtcacgcag ttctcttacg
     5101 tggactcaga gggctcccca gtgggtgtgg tccagctcac cttcctgcgg ctgctcagcg
     5161 tctcagccca ccaggacgtc tcctacccct gctctggagc agcccgtgac ggtcccctga
     5221 gactccgtgg ggccaatgag gatgagctga gcccggagac tagcccctat gtcaaagaat
     5281 tcagagatgg ctgccagaca cagcaaggcc ggacggtgct ggaggtgcga acgcctgtgc
     5341 tggagcagct gccagtgctg gatgcctcct tctcagacct gggagcccca ccgaggcggg
     5401 gaggggtgct gctggggcct gtctgcttca tgggatagga ccgtctctgt ctgatcctgt
     5461 ccattcggaa ccaggcccac ctggaatccc acaacatcag ctctgtgcca cctcccaaga
     5521 gggctcctca ctatctaggg agccctgggc cagggcgtgg agagccctca gtcggggcag
     5581 gccaggggag gggtgaagtg gttgcctgga caccccacgg gaggagtggc atctggggct
     5641 cttggccctc ccacctggag cctgttaccc gttagagagc tgagaccctt atttaaaact
     5701 cacctcccaa tcaccccaaa caaatggaag agaagagaaa ggacatggcg tattttgtat
     5761 ttaaaagtaa ttgtattaat tatttaaagt gtggaaagca aaataacaaa aaagagaaac
     5821 gccaacaaaa atcagcagat gttgaagaca ggggtctcgg gggtgggctc cggcacccac
     5881 atcctggagt caggactttc ctcagtgact gtgtgtaggg gggtttcagg gctgaacccc
     5941 acctccctcc caccttcctc ccacctcacc tgtcgcaccc actgtgaaag ttggaatatg
     6001 tggtctccct ggcctcaggg ctctgactct gccagggtgg ggctctctaa cccacaggtg
     6061 ttggctgcct ggcccatgtg cccactgtct cttccacttg gtctgggttt ggcaggcact
     6121 gcctgctact tgagggccag gatgctcccc cagggaagaa acggaatagt gtggggtgtg
     6181 tgcagggctg catcccgcag atggctggaa tattaaaatt cttctatatt ggctggtaaa
     6241 ttgccatggc cctgagccac tgagtatgtt cattgccacc cctgtccctc ccctgggcac
     6301 ccctcacttt ccctgatcct gcaattaaag ggttaatgtg tggcatatgg aagggactcc
     6361 caggaccctg tgcccagctt ccatgctgac tgatggttaa ataatgtgat tgtctcctcc
     6421 ca
//
