LOCUS       NM_001278298            8969 bp    mRNA    linear   PRI 12-JUN-2024
DEFINITION  Homo sapiens collagen type VI alpha 5 chain (COL6A5), transcript
            variant 1, mRNA.
ACCESSION   NM_001278298
VERSION     NM_001278298.2
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 8969)
  AUTHORS   Urbizu,A., Garrett,M.E., Soldano,K., Drechsel,O., Loth,D.,
            Marce-Grau,A., Mestres I Soler,O., Poca,M.A., Ossowski,S.,
            Macaya,A., Loth,F., Labuda,R. and Ashley-Koch,A.
  TITLE     Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and
            COL5A2 frequently occur in Chiari Malformation Type 1
  JOURNAL   PLoS One 16 (5), e0251289 (2021)
   PUBMED   33974636
  REMARK    GeneRIF: Rare functional genetic variants in COL7A1, COL6A5, COL1A2
            and COL5A2 frequently occur in Chiari Malformation Type 1.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 8969)
  AUTHORS   Caputo,V., Strafella,C., Termine,A., Campione,E., Bianchi,L.,
            Novelli,G., Giardina,E. and Cascella,R.
  TITLE     RNAseq-Based Prioritization Revealed COL6A5, COL8A1, COL10A1 and
            MIR146A as Common and Differential Susceptibility Biomarkers for
            Psoriasis and Psoriatic Arthritis: Confirmation from Genotyping
            Analysis of 1417 Italian Subjects
  JOURNAL   Int J Mol Sci 21 (8), 2740 (2020)
   PUBMED   32326527
  REMARK    GeneRIF: RNAseq-Based Prioritization Revealed COL6A5, COL8A1,
            COL10A1 and MIR146A as Common and Differential Susceptibility
            Biomarkers for Psoriasis and Psoriatic Arthritis: Confirmation from
            Genotyping Analysis of 1417 Italian Subjects.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 8969)
  AUTHORS   Duan,Y., Liu,G., Sun,Y., Wu,J., Xiong,Z., Jin,T. and Chen,M.
  TITLE     Collagen type VI alpha5 gene variations may predict the risk of
            lung cancer development in Chinese Han population
  JOURNAL   Sci Rep 10 (1), 5010 (2020)
   PUBMED   32193401
  REMARK    GeneRIF: Collagen type VI alpha5 gene variations may predict the
            risk of lung cancer development in Chinese Han population.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 8969)
  AUTHORS   Strafella,C., Caputo,V., Minozzi,G., Milano,F., Arcangeli,M.,
            Sobhy,N., Abdelmaksood,R., Hashad,D., Vakirlis,E., Novelli,G.,
            Cascella,R. and Giardina,E.
  TITLE     Atopic Eczema: Genetic Analysis of COL6A5, COL8A1, and COL10A1 in
            Mediterranean Populations
  JOURNAL   Biomed Res Int 2019, 3457898 (2019)
   PUBMED   31275967
  REMARK    GeneRIF: three polymorphisms located in COL6A5, COL8A1, and COL10A1
            were investigated as potential susceptibility biomarkers for atopic
            eczema.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 8969)
  AUTHORS   Yasukochi,Y., Sakuma,J., Takeuchi,I., Kato,K., Oguri,M.,
            Fujimaki,T., Horibe,H. and Yamada,Y.
  TITLE     Longitudinal exome-wide association study to identify genetic
            susceptibility loci for hypertension in a Japanese population
  JOURNAL   Exp Mol Med 49 (12), e409 (2017)
   PUBMED   29217820
  REMARK    GeneRIF: The longitudinal EWAS for the recessive model showed that
            a novel SNV, rs11917356 of COL6A5, was significantly associated
            with systolic blood pressure, and the derived allele at the SNV may
            have spread throughout East Asia in recent evolutionary time.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 8969)
  AUTHORS   Kim,B.Y., Olzmann,J.A., Choi,S.I., Ahn,S.Y., Kim,T.I., Cho,H.S.,
            Suh,H. and Kim,E.K.
  TITLE     Corneal dystrophy-associated R124H mutation disrupts TGFBI
            interaction with Periostin and causes mislocalization to the
            lysosome
  JOURNAL   J Biol Chem 284 (29), 19580-19591 (2009)
   PUBMED   19478074
REFERENCE   7  (bases 1 to 8969)
  AUTHORS   Zucchelli,M., Torkvist,L., Bresso,F., Halfvarson,J., Soderhall,C.,
            Lee,Y.A., Lofberg,R., Kere,J. and D'Amato,M.
  TITLE     No association between the eczema genes COL29A1 and IL31 and
            inflammatory bowel disease
  JOURNAL   Inflamm Bowel Dis 15 (7), 961-962 (2009)
   PUBMED   18839421
  REMARK    GeneRIF: unlike eczema, genetic variation at COL29A1 and IL31 loci
            is unlikely to impact inflammatory bowel disease risk
REFERENCE   8  (bases 1 to 8969)
  AUTHORS   Fitzgerald,J., Rich,C., Zhou,F.H. and Hansen,U.
  TITLE     Three novel collagen VI chains, alpha4(VI), alpha5(VI), and
            alpha6(VI)
  JOURNAL   J Biol Chem 283 (29), 20170-20180 (2008)
   PUBMED   18400749
  REMARK    GeneRIF: The discovery of three additional collagen VI chains
            doubles the collagen VI family and adds a layer of complexity to
            collagen VI assembly and function in the extracellular matrix.
REFERENCE   9  (bases 1 to 8969)
  AUTHORS   Gara,S.K., Grumati,P., Urciuolo,A., Bonaldo,P., Kobbe,B., Koch,M.,
            Paulsson,M. and Wagener,R.
  TITLE     Three novel collagen VI chains with high homology to the alpha3
            chain
  JOURNAL   J Biol Chem 283 (16), 10658-10670 (2008)
   PUBMED   18276594
REFERENCE   10 (bases 1 to 8969)
  AUTHORS   Soderhall,C., Marenholz,I., Kerscher,T., Ruschendorf,F.,
            Esparza-Gordillo,J., Worm,M., Gruber,C., Mayr,G., Albrecht,M.,
            Rohde,K., Schulz,H., Wahn,U., Hubner,N. and Lee,Y.A.
  TITLE     Variants in a novel epidermal collagen gene (COL29A1) are
            associated with atopic dermatitis
  JOURNAL   PLoS Biol 5 (9), e242 (2007)
   PUBMED   17850181
  REMARK    GeneRIF: To identify the underlying atopic dermatitis disease gene,
            a dense map of microsatellite markers and single nucleotide
            polymorphisms was used, and association with AD was detected.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093004.2, KF573676.1 and
            AC117398.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 5, 2021 this sequence version replaced NM_001278298.1.
            
            Summary: This gene encodes a member of the collagen superfamily of
            proteins. The encoded protein contains multiple von Willebrand
            factor A-like domains and may interact with the alpha 1 and alpha 2
            chains of collagen VI to form the complete collagen VI trimer.
            Polymorphisms in this gene may be linked to dermal phenotypes, such
            as eczema. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, May 2013].
            
            Transcript Variant: This variant (1) represents the allele encoded
            by the GRCh38 reference genome and encodes isoform (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##
            RNAseq introns :: single sample supports all introns SAMEA2144333,
                              SAMEA2147596 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373157.9/ ENSP00000362250.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-310               AC093004.2         68844-69153         c
            311-405             AC093004.2         41120-41214         c
            406-1005            AC093004.2         37989-38588         c
            1006-1638           AC093004.2         34775-35407         c
            1639-2199           AC093004.2         29461-30021         c
            2200-2754           AC093004.2         25691-26245         c
            2755-3330           AC093004.2         23071-23646         c
            3331-3811           AC093004.2         19455-19935         c
            3812-3906           KF573676.1         294-388             c
            3907-4247           AC093004.2         16901-17241         c
            4248-4329           AC093004.2         16713-16794         c
            4330-4472           AC093004.2         13651-13793         c
            4473-4565           AC093004.2         12970-13062         c
            4566-4619           AC093004.2         11162-11215         c
            4620-4691           AC093004.2         9165-9236           c
            4692-4718           AC093004.2         8805-8831           c
            4719-4763           AC093004.2         8649-8693           c
            4764-4817           AC093004.2         8503-8556           c
            4818-4880           AC093004.2         5436-5498           c
            4881-4946           AC093004.2         4750-4815           c
            4947-5000           AC093004.2         4300-4353           c
            5001-5036           AC093004.2         1244-1279           c
            5037-5099           AC093004.2         693-755             c
            5100-5162           AC117398.3         106299-106361       c
            5163-5225           AC117398.3         105187-105249       c
            5226-5288           AC117398.3         103075-103137       c
            5289-5339           AC117398.3         100803-100853       c
            5340-5375           AC117398.3         100646-100681       c
            5376-5438           AC117398.3         99224-99286         c
            5439-5501           AC117398.3         98106-98168         c
            5502-5537           AC117398.3         95757-95792         c
            5538-5574           AC117398.3         95603-95639         c
            5575-5586           AC117398.3         92422-92433         c
            5587-6071           AC117398.3         90057-90541         c
            6072-6165           AC117398.3         82391-82484         c
            6166-6825           AC117398.3         81181-81840         c
            6826-6916           AC117398.3         78440-78530         c
            6917-7128           AC117398.3         66340-66551         c
            7129-7815           AC117398.3         52525-53211         c
            7816-7912           AC117398.3         51039-51135         c
            7913-8157           AC117398.3         50080-50324         c
            8158-8969           AC117398.3         37160-37971         c
FEATURES             Location/Qualifiers
     source          1..8969
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.1"
     gene            1..8969
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /note="collagen type VI alpha 5 chain"
                     /db_xref="GeneID:256076"
                     /db_xref="HGNC:HGNC:26674"
                     /db_xref="MIM:611916"
     exon            1..310
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            311..405
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     CDS             339..8183
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; collagen, type XXIX, alpha 1; collagen
                     alpha-5(VI) chain; von Willebrand factor A
                     domain-containing protein 4; collagen, type VI, alpha 5"
                     /codon_start=1
                     /product="collagen alpha-5(VI) chain isoform 1 precursor"
                     /protein_id="NP_001265227.1"
                     /db_xref="CCDS:CCDS93384.1"
                     /db_xref="GeneID:256076"
                     /db_xref="HGNC:HGNC:26674"
                     /db_xref="MIM:611916"
                     /translation="MKILLIIFVLIIWTETLADQSPGPGPVYADVVFLVDSSDHLGPK
                     SFPFVKTFINKMINSLPIEANKYRVALAQYSDEFHSEFHLSTFKGRSPMLNHLKKNFQ
                     FIGGSLQIGKALQEAHRTYFSAPINGRDRKQFPPILVVLASAESEDEVEEASKALQKD
                     GVKIISVGVQKASEENLKAMATSHFHFNLRTIRDLSTFSQNMTQIIKDVTKYKEGAVD
                     ADMQVHFPISCQKDSLADLVFLVDESLGTGGNLRHLQTFLENITSSMDVKENCMRLGL
                     MSYSNSAKTISFLKSSTTQSEFQQQIKNLSIQVGKSNTGAAIDQMRRDGFSESYGSRR
                     AQGVPQIAVLVTHRPSDDEVHDAALNLRLEDVNVFALSIQGANNTQLEEIVSYPPEQT
                     ISTLKSYADLETYSTKFLKKLQNEIWSQISTYAEQRNLDKTGCVDTKEADIHFLIDGS
                     SSIQEKQFEQIKRFMLEVTEMFSIGPDKVRVGVVQYSDDTEVEFYITDYSNDIDLRKA
                     IFNIKQLTGGTYTGKALDYILQIIKNGMKDRMSKVPCYLIVLTDGMSTDRVVEPAKRL
                     RAEQITVHAVGIGAANKIELQEIAGKEERVSFGQNFDALKSIKNEVVREICAEKGCED
                     MKADIMFLVDSSWSIGNENFRKMKIFMKNLLTKIQIGADKTQIGVVQFSDKTKEEFQL
                     NRYFTQQEISDAIDRMSLINEGTLTGKALNFVGQYFTHSKGARLGAKKFLILITDGVA
                     QDDVRDPARILRGKDVTIFSVGVYNANRSQLEEISGDSSLVFHVENFDHLKALERKLI
                     FRVCALHDCKRITLLDVVFVLDHSGSIKKQYQDHMINLTIHLVKKADVGRDRVQFGAL
                     KYSDQPNILFYLNTYSNRSAIIENLRKRRDTGGNTYTAKALKHANALFTEEHGSRIKQ
                     NVKQMLIVITDGESHDHDQLNDTALELRNKGITIFAVGVGKANQKELEGMAGNKNNTI
                     YVDNFDKLKDVFTLVQERMCTEAPEVCHLQEADVIFLCDGSDRVSNSDFVTMTTFLSD
                     LIDNFDIQSQRMKIGMAQFGSNYQSIIELKNSLTKTQWKTQIQNVSKSGGFPRIDFAL
                     KKVSNMFNLHAGGRRNAGVPQTLVVITSGDPRYDVADAVKTLKDLGICVLVLGIGDVY
                     KEHLLPITGNSEKIITFQDFDKLKNVDVKKRIIREICQSCGKTNCFMDIVVGFDISTH
                     VQGQPLFQGHPQLESYLPGILEDISSIKGVSCGAGTEAQVSLAFKVNSDQGFPAKFQI
                     YQKAVFDSLLQVNVSGPTHLNAQFLRSLWDTFKDKSASRGQVLLIFSDGLQSESNIML
                     ENQSDRLREAGLDALLVVSLNTTAHHEFSSFEFGKRFDYRTHLTIGMRELGKKLSQYL
                     GNIAERTCCCTFCKCPGIPGPHGTRGLQAMKGSQGLKGSRGHRGEDGNPGVRGDTGPQ
                     GDKGIAGCPGAWGQKGLKGFSGPKGGHGDDGIDGLDGEEGCHGFPGIKGEKGDPGSQG
                     SPGSRGAPGQYGEKGFPGDPGNPGQNNNIKGQKGSKGEQGRQGRSGQKGVQGSPSSRG
                     SRGREGQRGLRGVSGEPGNPGPTGTLGAEGLQGPQGSQGNPGRKGEKGSQGQKGPQGS
                     PGLMGAKGSTGRPGLLGKKGEPGLPGDLGPVGQTGQRGRQGDSGIPGYGQMGRKGVKG
                     PRGFPGDAGQKGDIGNPGIPGGPGPKGFRGLALTVGLKGEEGSRGLPGPPGQRGIKGM
                     AGQPVYSQCDLIRFLREHSPCWKEKCPAYPTELVFALDNSYDVTEESFNKTRDIITSI
                     VNDLNIRENNCPVGARVAMVSYNSGTSYLIRWSDYNRKKQLLQQLSQIKYQDTTEPRD
                     VGNAMRFVTRNVFKRTYAGANVRRVAVFFSNGQTASRSSIITATMEFSALDISPTVFA
                     FDERVFLEAFGFDNTGTFQVIPVPPNGENQTLERLRRCALCYDKCFPNACIREAFLPE
                     DSYMDVVFLIDNSRNIAKDEFKAVKALVSSVIDNFNIASDPLISDSGDRIALLSYSPW
                     ESSRRKMGTVKTEFDFITYDNQLLMKNHIQTSFQQLNGEATIGRALLWTTENLFPETP
                     YLRKHKVIFVVSAGENYERKEFVKMMALRAKCQGYVIFVISLGSTRKDDMEELASYPL
                     DQHLIQLGRIHKPDLNYIAKFLKPFLYSVRRGFNQYPPPMLEDACRLINLGGENIQND
                     GFQFVTELQEDFLGGNGFIGQELNSGRESPFVKTEDNGSDYLVYLPSQMFEPQKLMIN
                     YEKDQKSAEIASLTSGHENYGRKEEPDHTYEPGDVSLQEYYMDVAFLIDASQRVGSDE
                     FKEVKAFITSVLDYFHIAPTPLTSTLGDRVAVLSYSPPGYMPNTEECPVYLEFDLVTY
                     NSIHQMKHHLQDSQQLNGDVFIGHALQWTIDNVFVGTPNLRKNKVIFVISAGETNSLD
                     KDVLRNVSLRAKCQGYSIFVFSFGPKHNDKELEELASHPLDHHLVQLGRTHKPDWNYI
                     IKFVKPFVHLIRRAINKYPTEDMKATCVNMTSPNPENGGTENTVLLLPGIYEIKTENG
                     DLFDEFDSQAQHLLVLGNNHSSGSETATDLMQKLYLLFSTEKLAMKDKEKAHLEEISA
                     LVVDKQQEKEDGEDTRSS"
     exon            406..1005
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            1006..1638
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            1639..2199
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            2200..2754
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            2755..3330
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            3331..3906
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            3907..4247
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            4248..4329
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            4330..4472
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            4473..4565
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            4566..4619
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            4620..4691
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            4692..4718
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            4719..4763
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            4764..4817
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            4818..4880
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            4881..4946
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            4947..5000
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            5001..5036
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            5037..5099
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            5100..5162
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            5163..5225
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            5226..5288
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            5289..5339
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            5340..5375
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            5376..5438
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            5439..5501
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            5502..5537
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            5538..5574
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            5575..5586
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            5587..6071
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            6072..6165
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            6166..6825
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            6826..6916
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            6917..7128
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            7129..7815
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            7816..7912
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            7913..8157
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     exon            8158..8969
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      8952..8957
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /note="hexamer: AACAAG"
     polyA_site      8969
                     /gene="COL6A5"
                     /gene_synonym="COL29A1; VWA4"
                     /note="major polyA site"
ORIGIN      
        1 acactcacat taaaacttgt gaagagttaa aagccccagg gaagagccag gccaagggca
       61 cgggtcagcg ccggcttaaa agaccctctc agggcacgag gcgttcgctg cgggaatcca
      121 cctgcagctg tgcggcgcgg accagggcgt gcggcgcgga ccagggcttc cggcgcgcgc
      181 tctatccaac tgcgccgcgg gcgcccgaga ggcgcgcgtt tactgcgctc aggagctcgg
      241 tgcagcctct tctggagagt tgggggcggt ttccagggtc cggagtgtcc cctgaccccg
      301 ggaaagctgg aacaaaagta aaaatcttca ctaacaaaat gaagatcttg ctaattatat
      361 ttgtcctaat catttggact gaaacattgg cagaccagag cccagggcca ggccctgtgt
      421 atgcagatgt cgtgtttctg gtggacagct ccgatcacct gggacctaag tcattcccat
      481 tcgtgaaaac gttcatcaac aaaatgatca acagtctccc catagaggcc aacaaatacc
      541 gtgtagccct ggcccagtac agcgacgagt ttcacagtga attccatctg agcaccttca
      601 aaggcagaag ccccatgctg aaccacctca agaagaactt tcagttcatt ggcgggtccc
      661 tgcagatagg aaaggctctt caggaggctc ataggaccta cttctctgca cccataaatg
      721 ggagagacag gaaacagttt cccccaattt tggtggtcct ggcttcggct gagtctgagg
      781 atgaagtgga agaggcttcg aaagccctgc agaaagacgg ggtgaaaatt atctccgtgg
      841 gggtgcagaa agcttctgag gaaaatctga aggccatggc cacatcccat ttccatttca
      901 accttcggac aatcagagac ctcagcacat tttcccaaaa catgacacag atcatcaagg
      961 atgtaaccaa gtataaggag ggagccgtcg atgctgatat gcaagttcac ttccccatat
     1021 cctgtcagaa agattcactc gctgacctcg tgttcctggt ggatgagtca cttgggaccg
     1081 gaggaaattt aaggcatctt cagaccttcc ttgagaacat taccagctcc atggatgtga
     1141 aggaaaattg catgcgactt ggactgatga gttacagcaa tagtgccaag actatttctt
     1201 ttcttaaatc aagcacaacc caatctgaat ttcagcagca aatcaagaat ctttctatcc
     1261 aagttgggaa atccaataca ggggctgcca ttgatcagat gagaagagac ggcttctcag
     1321 agtcatatgg cagcagaaga gcacaaggag tgcctcagat tgcagttctg gtcacccaca
     1381 gaccatcaga tgatgaggtg catgatgctg cgctgaacct tcgactggag gatgtaaacg
     1441 tgtttgcctt gagcatccaa ggggctaaca atacccagtt agaagaaata gtgtcttatc
     1501 ctccagaaca gacaatttcc acgctgaagt cctatgcaga cttagaaact tacagtacaa
     1561 agttcctgaa aaagctccag aatgaaatat ggtcccaaat ttctacttat gctgaacaaa
     1621 ggaatcttga taaaactggc tgtgtggata caaaagaggc tgatatccac ttcctcattg
     1681 atggctcaag cagcatccag gagaaacagt ttgagcaaat caagagattt atgttggaag
     1741 tgacagaaat gtttagcatt ggcccagaca aagtccgagt tggagttgtg cagtattcag
     1801 atgacacaga agtggaattt tatatcactg actattctaa tgatattgac ttaagaaagg
     1861 ctatttttaa cattaagcaa ctaactggtg gaacttatac tgggaaagct ctggattaca
     1921 tactgcaaat aataaaaaat ggaatgaagg atagaatgag caaggttccc tgttacctca
     1981 ttgtgttgac tgatgggatg tccacagaca gagtcgtgga acctgctaag agactaaggg
     2041 ctgagcaaat cactgttcat gcagttggca ttggggcagc taataaaata gaactgcaag
     2101 aaattgctgg gaaagaagaa agggttagct ttgggcagaa ctttgatgct ttgaaaagca
     2161 taaaaaatga agtcgttcgt gaaatctgcg ctgaaaaagg atgtgaagac atgaaggccg
     2221 acatcatgtt tctggtggac agttcttgga gtataggaaa tgaaaatttt aggaaaatga
     2281 aaatcttcat gaaaaacctg ttaactaaaa ttcaaattgg tgcagacaaa acccagattg
     2341 gtgttgttca gttcagtgat aaaactaagg aagagttcca gcttaataga tattttacac
     2401 agcaagaaat ttctgatgca atagatagaa tgtctctcat caatgaaggc actttaactg
     2461 gaaaggcact aaattttgta ggtcaatact tcacccactc caagggggcc cgtttggggg
     2521 ccaaaaaatt tctcatcctc atcacagatg gagtagcgca ggatgatgtg agagatcctg
     2581 ctagaattct tcggggcaaa gatgtgacca tcttctctgt aggagtatac aatgccaata
     2641 gatctcagct agaagagatc agtggggata gcagcctagt ttttcatgtt gagaacttcg
     2701 atcatctaaa ggcactagaa aggaaactta tctttcgtgt gtgtgctctc catgattgta
     2761 aaaggattac actactagac gttgtgtttg tgctggatca ttcaggtagc ataaaaaaac
     2821 aatatcaaga tcacatgatt aacctaacta tccatttggt gaagaaagca gatgttggca
     2881 gggaccgagt tcagtttgga gccctcaaat actctgacca acctaacatc cttttctacc
     2941 ttaatacata ctcgaacaga tcagcaataa ttgagaatct gcggaagcgc agggacactg
     3001 gagggaacac ctacactgcc aaggctctca agcacgcaaa tgccctgttt acagaggaac
     3061 atggcagccg catcaagcaa aatgtgaagc agatgctgat tgtcatcacc gatggggaat
     3121 cccatgacca tgatcagctc aatgacacag cattggaact gagaaacaaa ggcatcacca
     3181 tctttgcagt gggtgtagga aaggccaacc aaaaggaact tgagggtatg gcagggaata
     3241 aaaacaatac tatctatgta gataattttg acaaactgaa agatgttttc acacttgttc
     3301 aagaacgtat gtgtactgaa gcaccagagg tctgtcatct tcaggaagct gacgtgattt
     3361 tcctttgcga tggctctgac agggtatcta attcagattt tgtaaccatg acaactttct
     3421 tgtcagactt aatcgataat tttgacattc agtctcaaag aatgaaaatt ggtatggctc
     3481 aatttggaag caactaccag agtattattg agttgaaaaa ctctctgact aaaacccagt
     3541 ggaagactca aattcagaat gtctccaaga gcggtggatt tccaagaatt gactttgccc
     3601 ttaaaaaagt gagcaatatg tttaatctac atgctggtgg gagaagaaat gctggtgtcc
     3661 cccaaacttt ggttgttatc acatctggag atcctcgcta tgatgtggca gatgcagtaa
     3721 aaaccctgaa ggaccttgga atttgtgtcc tggttttggg cataggagat gtttataagg
     3781 aacatctcct gccaataaca ggcaattctg aaaaaataat cacttttcaa gactttgata
     3841 aattaaagaa tgtggatgtg aaaaaaagaa tcatccgtga aatctgccag agctgtggga
     3901 aaaccaattg ctttatggac atagtggttg ggtttgacat ctccactcat gtgcaggggc
     3961 agcctttgtt ccagggccac ccccagctgg aatcctacct cccaggcatc ttagaagaca
     4021 tcagctctat caagggggtg agctgtgggg ctggcacaga ggcacaggtg agcttggcgt
     4081 ttaaggtgaa cagtgaccaa ggattccctg ccaagttcca aatctatcag aaagcagtgt
     4141 ttgacagctt gctgcaagtc aacgtcagtg ggccaactca tctgaacgca cagttcttgc
     4201 ggtctctttg ggacacattt aaggataaat ctgcatcccg gggccaggtg ctgcttattt
     4261 tttcagacgg tctccagagt gaaagcaaca taatgcttga aaatcaatca gacaggctca
     4321 gagaagcagg acttgatgct ctgctggtag tgtcccttaa cacaactgct catcatgagt
     4381 tttctagctt tgaatttgga aaaagattcg attacaggac tcatctgact attggaatga
     4441 gagaactggg caaaaaacta tcacagtacc tgggaaatat tgcagagagg acttgctgct
     4501 gtacattctg caaatgtcca ggaattccag gacctcatgg gacccgagga ctacaagcca
     4561 tgaagggttc tcaaggtctg aaaggcagca gaggacacag gggagaggat ggaaaccctg
     4621 gagtacgagg agacacagga ccccaaggag acaaagggat tgcaggatgt ccaggggcgt
     4681 ggggtcagaa gggactcaaa ggattttctg gacctaaggg aggtcatgga gacgatggga
     4741 ttgatggact tgatggggaa gagggctgtc atggatttcc tggaataaaa ggagaaaaag
     4801 gtgatccagg atctcagggc agcccaggtt ccagaggtgc ccctgggcag tatggagaga
     4861 agggcttccc aggggatccg ggtaatccag gacaaaacaa taacatcaaa ggacaaaagg
     4921 gctccaaagg agaacaagga agacaaggta gaagtggaca gaaaggggtg caaggcagtc
     4981 ctagttccag aggcagcagg ggaagagaag gtcaaagggg actccgaggt gtctcaggag
     5041 aaccaggaaa tcctggacct acaggcacat tgggagctga aggattacaa ggcccacagg
     5101 ggtcacaggg aaatcctggc agaaaaggag aaaaaggaag ccaggggcag aaaggacctc
     5161 agggttctcc tgggctaatg ggagctaaag ggagcactgg aagacctgga cttttgggga
     5221 aaaaaggaga gcctggactt cctggagatc tagggccagt ggggcaaact gggcagcgag
     5281 gaagacaggg agattctggc atcccaggct acggtcagat gggacgaaaa ggagtaaagg
     5341 gcccaagagg attccctgga gatgcggggc agaagggtga tattggtaat cctggaattc
     5401 ctgggggacc tggacccaaa ggatttaggg gactagcact cactgtaggc ttgaaaggtg
     5461 aagagggatc tcgaggactc ccaggccctc ctggacagag aggcattaaa ggcatggcag
     5521 ggcagcctgt atattctcaa tgtgatctga tccggttttt gcgggaacat agtccttgct
     5581 ggaaagaaaa atgtccagca tatccaacag agctagtatt tgctctggac aattcctacg
     5641 atgtcacaga agagagcttt aataaaacac gggacatcat cacttccatt gtcaatgacc
     5701 ttaacatcag ggaaaataac tgtcctgtgg gagcaagagt tgccatggtt tcctataact
     5761 caggcaccag ctatctcatc cgctggtctg actacaatag gaagaagcag ctcctccagc
     5821 agctttccca aataaaatat caagacacca cagagccccg agatgttggt aatgcaatga
     5881 ggtttgtgac ccgcaacgtg ttcaagcgga cgtatgcagg agccaacgtg aggagagttg
     5941 ctgtgttttt tagcaatggt caaacagcca gtaggtcatc catcatcacg gccaccatgg
     6001 agtttagtgc cctggatatc agtccaacag tctttgcttt tgatgagaga gttttccttg
     6061 aagcttttgg gtttgacaac actggaacat ttcaggtgat tccagttcct ccaaatgggg
     6121 aaaatcaaac attagaaaga cttcggcgct gtgcactttg ctatgataaa tgttttccaa
     6181 atgcttgcat tcgagaggct ttcttacctg aagattcata catggatgta gtcttcctca
     6241 tagacaattc tcggaatata gcaaaggatg agtttaaggc tgtgaaagcc ttggtgagct
     6301 cagtgattga caacttcaac attgcttcag accctttaat ctcagactct ggtgatagga
     6361 ttgctttgtt gagctattct ccttgggaaa gttccaggag aaagatgggt acagtaaaaa
     6421 cagagtttga tttcatcact tatgacaacc aactcctaat gaagaatcac atccagactt
     6481 ccttccaaca gctaaatgga gaagcaacaa ttggtcgtgc cctactgtgg accactgaaa
     6541 atctttttcc agaaacaccc tatctaagaa aacacaaggt catctttgtg gtctcagctg
     6601 gagaaaatta tgagagaaaa gaatttgtaa aaatgatggc tttgagggct aagtgtcaag
     6661 gctacgtcat atttgtgatt tctctgggct ctacacgtaa ggatgacatg gaggagttag
     6721 ccagctaccc acttgatcaa cacctgatac agcttgggag aatacataaa ccagatctga
     6781 attatattgc gaagttctta aagccatttt tatactcggt caggcgggga ttcaatcagt
     6841 acccaccacc gatgcttgag gatgcctgta gactcatcaa tttaggagga gagaatattc
     6901 aaaatgatgg tttccaattt gttactgagc tacaagagga ttttttggga ggtaatggct
     6961 tcattggcca agaattaaat tctgggagag aatcaccttt tgtaaagacg gaagacaatg
     7021 gaagtgacta tttggtttac cttccaagcc aaatgtttga gccacaaaaa ttaatgatca
     7081 attatgaaaa agatcaaaaa tctgcagaaa ttgcaagtct cacttctgga catgaaaatt
     7141 atggcagaaa agaagaacca gatcatactt atgaacctgg agatgtctct cttcaagaat
     7201 attacatgga tgtggctttc ctcatagatg cttcccaaag agtaggaagt gatgagttta
     7261 aggaagtaaa agcttttata acctcagtgc ttgattactt tcacattgcc cccactccac
     7321 tgacctccac cttaggagac agggttgctg tcctgagcta ctctcctcca ggctatatgc
     7381 ctaacactga agaatgccct gtctacctgg aatttgattt ggttacttat aacagtatac
     7441 accaaatgaa acatcatctc caagactctc aacagctcaa tggagatgtt tttattggcc
     7501 atgccttgca gtggacaatt gacaatgtct ttgtaggaac ccccaatctg aggaaaaaca
     7561 aagttatctt tgtaatatct gctggcgaaa ccaactcttt agacaaagac gtcttaagga
     7621 atgtgtctct gagagccaag tgtcaaggct actccatatt tgtgttttcc tttggcccta
     7681 aacacaatga caaagaatta gaagaattag ccagccaccc tctggatcat cacttggtcc
     7741 aacttggccg aacccacaag ccagattgga actatatcat caagtttgtc aagccatttg
     7801 tccatttaat cagacgtgcc atcaacaaat atcccaccga agatatgaaa gccacatgtg
     7861 ttaacatgac ctctcccaac ccagagaacg gtggcacaga aaacactgta ttacttcttc
     7921 ctgggatata tgaaataaag acagaaaatg gtgatctgtt tgatgaattt gattcccagg
     7981 cacaacatct ccttgtatta gggaacaatc atagtagtgg ttctgagaca gctactgatt
     8041 tgatgcagaa gttatatctg ctcttttcaa ctgagaaact ggcaatgaaa gacaaggaaa
     8101 aagcacattt agaagaaatt tcagctctag tggttgataa acagcaagaa aaagaagatg
     8161 gtgaagatac aaggtcatca taggagaaaa gaagatagct ccactgacat gtataatccc
     8221 atgtggttct aaccagaatg tataatcatc tgttagaggt actgtggtaa atgacaggga
     8281 cttttcacaa aaacaattgg ctaatagcat gctaaatttg ttctccatct caaatcttga
     8341 ggagaagaat tttcggagtg aagacatcag taagaagacc tgacaaacca ggaatgattt
     8401 catttctcct gagaactggg gaaaccgacc tataagagtt aacttttctt tgaaagctct
     8461 gcacagttca ggcatcaatt ttgatgatgt atctgcctgt aaaagattgt cattattttc
     8521 aacacatctg tatctcagat tggactcctc taaaagcatt tggaattgga atttcctagg
     8581 aatatcttct actaattctt aaaactggaa agccatgccc atgtcatcgg ttctggggtg
     8641 accctaacat ttcatctagc agtgattgtc ttctaaaacc cacctgtcag gctgctatga
     8701 cccatagtta atgctttctc ttcaccagga cattgacaaa agaatggaat tggtgaaaaa
     8761 gaaaaaagtg ataagaggct aattttatga accatatttt ttgctgtaat cttttgttta
     8821 aattttagca gctttgcttt gtgtatactg aatttttgca gcaaaagaat tacggaaaag
     8881 cacagatact ctatatgacc agagatgttc ttgggaatta caatgtagca agagataatt
     8941 tctaaaataa aaacaagtct gacttggaa
//
