LOCUS       NM_025114               7824 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens centrosomal protein 290 (CEP290), mRNA.
ACCESSION   NM_025114 NM_014684 XM_374989
VERSION     NM_025114.4
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 7824)
  AUTHORS   Odabasi,E., Conkar,D., Deretic,J., Batman,U., Frikstad,K.M.,
            Patzke,S. and Firat-Karalar,E.N.
  TITLE     CCDC66 regulates primary cilium length and signaling via
            interactions with transition zone and axonemal proteins
  JOURNAL   J Cell Sci 136 (3) (2023)
   PUBMED   36606424
REFERENCE   2  (bases 1 to 7824)
  AUTHORS   Minella,A.L., Narfstrom Wiechel,K. and Petersen-Jones,S.M.
  TITLE     Alternative splicing in CEP290 mutant cats results in a milder
            phenotype than LCACEP290 patients
  JOURNAL   Vet Ophthalmol 26 (1), 4-11 (2023)
   PUBMED   36495011
  REMARK    GeneRIF: Alternative splicing in CEP290 mutant cats results in a
            milder phenotype than LCA[CEP290] patients.
REFERENCE   3  (bases 1 to 7824)
  AUTHORS   Mayor,T., Stierhof,Y.D., Tanaka,K., Fry,A.M. and Nigg,E.A.
  TITLE     The centrosomal protein C-Nap1 is required for cell cycle-regulated
            centrosome cohesion
  JOURNAL   J Cell Biol 151 (4), 837-846 (2000)
   PUBMED   11076968
REFERENCE   4  (bases 1 to 7824)
  AUTHORS   Golsteyn,R.M., Mundt,K.E., Fry,A.M. and Nigg,E.A.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
REFERENCE   5  (bases 1 to 7824)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30285347
REFERENCE   6  (bases 1 to 7824)
  AUTHORS   Stokman,M., Lilien,M. and Knoers,N.
  TITLE     Nephronophthisis-Related Ciliopathies
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27336129
REFERENCE   7  (bases 1 to 7824)
  AUTHORS   Gunay-Aygun,M., Gahl,W.A. and Heller,T.
  TITLE     Congenital Hepatic Fibrosis Overview horizontal line RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301743
REFERENCE   8  (bases 1 to 7824)
  AUTHORS   Forsyth,R. and Gunay-Aygun,M.
  TITLE     Bardet-Biedl Syndrome Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301537
REFERENCE   9  (bases 1 to 7824)
  AUTHORS   Parisi,M. and Glass,I.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301500
REFERENCE   10 (bases 1 to 7824)
  AUTHORS   Weleber,R.G., Francis,P.J., Trzupek,K.M. and Beattie,C.
  TITLE     Leber Congenital Amaurosis - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301475
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DQ109808.1, BC043398.1 and
            AC091516.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 2, 2019 this sequence version replaced NM_025114.3.
            
            Summary: This gene encodes a protein with 13 putative coiled-coil
            domains, a region with homology to SMC chromosome segregation
            ATPases, six KID motifs, three tropomyosin homology domains and an
            ATP/GTP binding site motif A. The protein is localized to the
            centrosome and cilia and has sites for N-glycosylation, tyrosine
            sulfation, phosphorylation, N-myristoylation, and amidation.
            Mutations in this gene have been associated with Joubert syndrome
            and nephronophthisis and the presence of antibodies against this
            protein is associated with several forms of cancer. [provided by
            RefSeq, Jul 2008].
            
            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 :: DQ109808.1, BK005587.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000552810.6/ ENSP00000448012.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2252              DQ109808.1         129-2380
            2253-2483           BC043398.1         2135-2365
            2484-2484           AC091516.8         59148-59148
            2485-7823           DQ109808.1         2613-7951
            7824-7824           AC091516.8         121433-121433
FEATURES             Location/Qualifiers
     source          1..7824
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.32"
     gene            1..7824
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /note="centrosomal protein 290"
                     /db_xref="GeneID:80184"
                     /db_xref="HGNC:HGNC:29021"
                     /db_xref="MIM:610142"
     exon            1..189
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            190..318
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     CDS             217..7656
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /note="POC3 centriolar protein homolog; cancer/testis
                     antigen 87; centrosomal protein 290kDa; nephrocytsin-6;
                     Meckel syndrome, type 4; CTCL tumor antigen se2-2;
                     monoclonal antibody 3H11 antigen; prostate cancer antigen
                     T21; Bardet-Biedl syndrome 14 protein"
                     /codon_start=1
                     /product="centrosomal protein of 290 kDa"
                     /protein_id="NP_079390.3"
                     /db_xref="CCDS:CCDS55858.1"
                     /db_xref="GeneID:80184"
                     /db_xref="HGNC:HGNC:29021"
                     /db_xref="MIM:610142"
                     /translation="MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEK
                     QENVIHLFRITQSLMKMKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQ
                     QSAGGRDTRFLRNEICQLEKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENS
                     KLRRENKRLKKKNEQLCQDIIDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQY
                     LDEIQTLTEANEKIEVQNQEMRKNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKK
                     ENDHYQLQVQELTDLLKSKNEEDDPIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNL
                     REKLKNAQLDADKSNVMALQQGIQERDSQIKMLTEQVEQYTKEMEKNTCIIEDLKNEL
                     QRNKGASTLSQQTHMKIQSTLDILKEKTKEAERTAELAEADAREKDKELVEALKRLKD
                     YESGVYGLEDAVVEIKNCKNQIKIRDREIEILTKEINKLELKISDFLDENEALRERVG
                     LEPKTMIDLTEFRNSKHLKQQQYRAENQILLKEIESLEEERLDLKKKIRQMAQERGKR
                     SATSGLTTEDLNLTENISQGDRISERKLDLLSLKNMSEAQSKNEFLSRELIEKERDLE
                     RSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKEMQKDPDVKGGETSLIIPSLERL
                     VNAIESKNAEGIFDASLHLKAQVDQLTGRNEELRQELRESRKEAINYSQQLAKANLKI
                     DHLEKETSLLRQSEGSNVVFKGIDLPDGIAPSSASIINSQNEYLIHLLQELENKEKKL
                     KNLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTIKEEKRKLEDQVQQDAI
                     KVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQYTTLVELERQLRKEN
                     EKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLSELELANKQYNEL
                     TAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEKLHTIEQAWEQ
                     ETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMYEHLRTSLK
                     QMEERNFELETKFAELTKINLDAQKVEQMLRDELADSVSKAVSDADRQRILELEKNEM
                     ELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDYQAQSDEKSLIAKLH
                     QHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRAKH
                     LRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLE
                     MELKLKGLEELISTLKDTKGAQKVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNI
                     ISEYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAAQKFE
                     EATGSIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQN
                     ILSRDKVINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQK
                     EEVLKKYQRLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQS
                     PTPVPTNKHFIRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENI
                     KLQLQENHEDEVKKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNL
                     VERLKSQLALKEKQQKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHT
                     RELKTQVEDLNENLLKLKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEE
                     IDQENDELKRQIKRLTSGLQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPM
                     KEKNAKEELIRWEEGKKWQAKIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKL
                     TLQRKLKTTGMTVDQVLGIRALESEKELEELKKRNLDLENDILYMRAHQALPRDSVVE
                     DLHLQNRYLQEKLHALEKQFSKDTYSKPSISGIESDDHCQREQELQKENLKLSSENIE
                     LKFQLEQANKDLPRLKNQVRDLKEMCEFLKKEKAEVQRKLGHVRGSGRSGKTIPELEK
                     TIGLMKKVVEKVQRENEQLKKASGILTSEKMANIEQENEKLKAELEKLKAHLGHQLSM
                     HYESKTKGTEKIIAENERLRKELKKETDAAEKLRIAKNNLEILNEKMTVQLEETGKRL
                     QFAESRGPQLEGADSKSWKSIVVTRMYETKLKELETDIAKKNQSITDLKQLVKEATER
                     EQKVNKYNEDLEQQIKILKHVPEGAETEQGLKRELQVLRLANHQLDKEKAELIHQIEA
                     NKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQHLKEEIKKLKKELENFDPSFFE
                     EIEDLKYNYKEEVKKNILLEEKVKKLSEQLGVELTSPVAASEEFEDEEESPVNFPIY"
     exon            319..396
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            397..466
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            467..513
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            514..657
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            658..711
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            712..732
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            733..885
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            886..1068
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            1069..1158
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            1159..1281
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            1282..1405
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            1406..1575
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            1576..1738
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            1739..1839
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            1840..1927
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            1928..2040
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            2041..2125
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            2126..2268
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            2269..2433
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            2434..2583
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            2584..2699
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            2700..2802
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            2803..3033
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            3034..3207
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            3208..3319
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            3320..3525
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            3526..3677
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            3678..3789
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            3790..4245
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            4246..4410
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            4411..4518
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            4519..4653
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            4654..4920
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            4921..5028
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            5029..5228
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            5229..5442
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            5443..5580
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            5581..5802
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            5803..5925
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            5926..6071
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            6072..6227
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            6228..6351
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            6352..6486
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            6487..6573
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            6574..6738
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            6739..6861
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            6862..7034
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            7035..7176
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            7177..7250
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            7251..7345
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            7346..7425
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     exon            7426..7824
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      7803..7808
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /note="hexamer: ATTATA"
     polyA_site      7824
                     /gene="CEP290"
                     /gene_synonym="3H11Ag; BBS14; CT87; JBTS5; LCA10; MKS4;
                     NPHP6; POC3; rd16; SLSN6"
                     /note="major polyA site"
ORIGIN      
        1 attctggcct tggcggagtt ggggatggtg tcgcctagca gccgctgccg ctttggcttg
       61 ctcgggacca tttggctgga cccagagtcc gcgtggaacc gcgataggga tctgtcaggg
      121 cccgcggccg ggtccagctt ggtggttgcg gtagtgagag gcctccgctg gttgccaggc
      181 ttggtctaga ggtggagcac agtgaaagaa ttcaagatgc cacctaatat aaactggaaa
      241 gaaataatga aagttgaccc agatgacctg ccccgtcaag aagaactggc agataattta
      301 ttgatttcct tatccaaggt ggaagtaaat gagctaaaaa gtgaaaagca agaaaatgtg
      361 atacaccttt tcagaattac tcagtcacta atgaagatga aagctcaaga agtggagctg
      421 gctttggaag aagtagaaaa agctggagaa gaacaagcaa aatttgaaaa tcaattaaaa
      481 actaaagtaa tgaaactgga aaatgaactg gagatggctc agcagtctgc aggtggacga
      541 gatactcggt ttttacgtaa tgaaatttgc caacttgaaa aacaattaga acaaaaagat
      601 agagaattgg aggacatgga aaaggagttg gagaaagaga agaaagttaa tgagcaattg
      661 gctcttcgaa atgaggaggc agaaaatgaa aacagcaaat taagaagaga gaacaaacgt
      721 ctaaagaaaa agaatgaaca actttgtcag gatattattg actaccagaa acaaatagat
      781 tcacagaaag aaacactttt atcaagaaga ggggaagaca gtgactaccg atcacagttg
      841 tctaaaaaaa actatgagct tatccaatat cttgatgaaa ttcagacttt aacagaagct
      901 aatgagaaaa ttgaagttca gaatcaagaa atgagaaaaa atttagaaga gtctgtacag
      961 gaaatggaga agatgactga tgaatataat agaatgaaag ctattgtgca tcagacagat
     1021 aatgtaatag atcagttaaa aaaagaaaac gatcattatc aacttcaagt gcaggagctt
     1081 acagatcttc tgaaatcaaa aaatgaagaa gatgatccaa ttatggtagc tgtcaatgca
     1141 aaagtagaag aatggaagct aattttgtct tctaaagatg atgaaattat tgagtatcag
     1201 caaatgttac ataacctaag ggagaaactt aagaatgctc agcttgatgc tgataaaagt
     1261 aatgttatgg ctctacagca gggtatacag gaacgagaca gtcaaattaa gatgctcacc
     1321 gaacaagtag aacaatatac aaaagaaatg gaaaagaata cttgtattat tgaagatttg
     1381 aaaaatgagc tccaaagaaa caaaggtgct tcaacccttt ctcaacagac tcatatgaaa
     1441 attcagtcaa cgttagacat tttaaaagag aaaactaaag aggctgagag aacagctgaa
     1501 ctggctgagg ctgatgctag ggaaaaggat aaagaattag ttgaggctct gaagaggtta
     1561 aaagattatg aatcgggagt atatggttta gaagatgctg tcgttgaaat aaagaattgt
     1621 aaaaaccaaa ttaaaataag agatcgagag attgaaatat taacaaagga aatcaataaa
     1681 cttgaattga agatcagtga tttccttgat gaaaatgagg cacttagaga gcgtgtgggc
     1741 cttgaaccaa agacaatgat tgatttaact gaatttagaa atagcaaaca cttaaaacag
     1801 cagcagtaca gagctgaaaa ccagattctt ttgaaagaga ttgaaagtct agaggaagaa
     1861 cgacttgatc tgaaaaaaaa aattcgtcaa atggctcaag aaagaggaaa aagaagtgca
     1921 acttcaggat taaccactga ggacctgaac ctaactgaaa acatttctca aggagataga
     1981 ataagtgaaa gaaaattgga tttattgagc ctcaaaaata tgagtgaagc acaatcaaag
     2041 aatgaatttc tttcaagaga actaattgaa aaagaaagag atttagaaag gagtaggaca
     2101 gtgatagcca aatttcagaa taaattaaaa gaattagttg aagaaaataa gcaacttgaa
     2161 gaaggtatga aagaaatatt gcaagcaatt aaggaaatgc agaaagatcc tgatgttaaa
     2221 ggaggagaaa catctctaat tatccctagc cttgaaagac tagttaatgc tatagaatca
     2281 aagaatgcag aaggaatctt tgatgcgagt ctgcatttga aagcccaagt tgatcagctt
     2341 accggaagaa atgaagaatt aagacaggag ctcagggaat ctcggaaaga ggctataaat
     2401 tattcacagc agttggcaaa agctaattta aagatagacc atcttgaaaa agaaactagt
     2461 cttttacgac aatcagaagg atcaaatgtt gtttttaaag gaattgactt acctgatggg
     2521 atagcaccat ctagtgccag tatcattaat tctcagaatg aatatttaat acatttgtta
     2581 caggaactag aaaataaaga aaaaaagtta aagaatttag aagattctct tgaagattac
     2641 aacagaaaat ttgctgtaat tcgtcatcaa caaagtttgt tgtataaaga atacctaagt
     2701 gaaaaggaga cctggaaaac agaatctaaa acaataaaag aggaaaagag aaaacttgag
     2761 gatcaagtcc aacaagatgc tataaaagta aaagaatata ataatttgct caatgctctt
     2821 cagatggatt cggatgaaat gaaaaaaata cttgcagaaa atagtaggaa aattactgtt
     2881 ttgcaagtga atgaaaaatc acttataagg caatatacaa ccttagtaga attggagcga
     2941 caacttagaa aagaaaatga gaagcaaaag aatgaattgt tgtcaatgga ggctgaagtt
     3001 tgtgaaaaaa ttgggtgttt gcaaagattt aaggaaatgg ccattttcaa gattgcagct
     3061 ctccaaaaag ttgtagataa tagtgtttct ttgtctgaac tagaactggc taataaacag
     3121 tacaatgaac tgactgctaa gtacagggac atcttgcaaa aagataatat gcttgttcaa
     3181 agaacaagta acttggaaca cctggagtgt gaaaacatct ccttaaaaga acaagtggag
     3241 tctataaata aagaactgga gattaccaag gaaaaacttc acactattga acaagcctgg
     3301 gaacaggaaa ctaaattagg taatgaatct agcatggata aggcaaagaa atcaataacc
     3361 aacagtgaca ttgtttccat ttcaaaaaaa ataactatgc tggaaatgaa ggaattaaat
     3421 gaaaggcagc gggctgaaca ttgtcaaaaa atgtatgaac acttacggac ttcgttaaag
     3481 caaatggagg aacgtaattt tgaattggaa accaaatttg ctgagcttac caaaatcaat
     3541 ttggatgcac agaaggtgga acagatgtta agagatgaat tagctgatag tgtgagcaag
     3601 gcagtaagtg atgctgatag gcaacggatt ctagaattag agaagaatga aatggaacta
     3661 aaagttgaag tgtcaaaact gagagagatt tctgatattg ccagaagaca agttgaaatt
     3721 ttgaatgcac aacaacaatc tagggacaag gaagtagagt ccctcagaat gcaactgcta
     3781 gactatcagg cacagtctga tgaaaagtcg ctcattgcca agttgcacca acataatgtc
     3841 tctcttcaac tgagtgaggc tactgctctt ggtaagttgg agtcaattac atctaaactg
     3901 cagaagatgg aggcctacaa cttgcgctta gagcagaaac ttgatgaaaa agaacaggct
     3961 ctctattatg ctcgtttgga gggaagaaac agagcaaaac atctgcgcca aacaattcag
     4021 tctctacgac gacagtttag tggagcttta cccttggcac aacaggaaaa gttctccaaa
     4081 acaatgattc aactacaaaa tgacaaactt aagataatgc aagaaatgaa aaattctcaa
     4141 caagaacata gaaatatgga gaacaaaaca ttggagatgg aattaaaatt aaagggcctg
     4201 gaagagttaa taagcacttt aaaggatacc aaaggagccc aaaaggtaat caactggcat
     4261 atgaaaatag aagaacttcg tcttcaagaa cttaaactaa atcgggaatt agtcaaggat
     4321 aaagaagaaa taaaatattt gaataacata atttctgaat atgaacgtac aatcagcagt
     4381 cttgaagaag aaattgtgca acagaacaag tttcatgaag aaagacaaat ggcctgggat
     4441 caaagagaag ttgacctgga acgccaacta gacatttttg accgtcagca aaatgaaata
     4501 ctaaatgcgg cacaaaagtt tgaagaagct acaggatcaa tccctgaccc tagtttgccc
     4561 cttccaaatc aacttgagat cgctctaagg aaaattaagg agaacattcg aataattcta
     4621 gaaacacggg caacttgcaa atcactagaa gagaaactaa aagagaaaga atctgcttta
     4681 aggttagcag aacaaaatat actgtcaaga gacaaagtaa tcaatgaact gaggcttcga
     4741 ttgcctgcca ctgcagaaag agaaaagctc atagctgagc taggcagaaa agagatggaa
     4801 ccaaaatctc accacacatt gaaaattgct catcaaacca ttgcaaacat gcaagcaagg
     4861 ttaaatcaaa aagaagaagt attaaagaag tatcaacgtc ttctagaaaa agccagagag
     4921 gagcaaagag aaattgtgaa gaaacatgag gaagaccttc atattcttca tcacagatta
     4981 gaactacagg ctgatagttc actaaataaa ttcaaacaaa cggcttggga tttaatgaaa
     5041 cagtctccca ctccagttcc taccaacaag cattttattc gtctggctga gatggaacag
     5101 acagtagcag aacaagatga ctctctttcc tcactcttgg tcaaactaaa gaaagtatca
     5161 caagatttgg agagacaaag agaaatcact gaattaaaag taaaagaatt tgaaaatatc
     5221 aaattacagc ttcaagaaaa ccatgaagat gaagtgaaaa aagtaaaagc ggaagtagag
     5281 gatttaaagt atcttctgga ccagtcacaa aaggagtcac agtgtttaaa atctgaactt
     5341 caggctcaaa aagaagcaaa ttcaagagct ccaacaacta caatgagaaa tctagtagaa
     5401 cggctaaaga gccaattagc cttgaaggag aaacaacaga aagcacttag tcgggcactt
     5461 ttagaactcc gggcagaaat gacagcagct gctgaagaac gtattatttc tgcaacttct
     5521 caaaaagagg cccatctcaa tgttcaacaa atcgttgatc gacatactag agagctaaag
     5581 acacaagttg aagatttaaa tgaaaatctt ttaaaattga aagaagcact taaaacaagt
     5641 aaaaacagag aaaactcact aactgataat ttgaatgact taaataatga actgcaaaag
     5701 aaacaaaaag cctataataa aatacttaga gagaaagagg aaattgatca agagaatgat
     5761 gaactgaaaa ggcaaattaa aagactaacc agtggattac agggcaaacc cctgacagat
     5821 aataaacaaa gtctaattga agaactccaa aggaaagtta aaaaactaga gaaccaatta
     5881 gagggaaagg tggaggaagt agacctaaaa cctatgaaag aaaagaatgc taaagaagaa
     5941 ttaattaggt gggaagaagg taaaaagtgg caagccaaaa tagaaggaat tcgaaacaag
     6001 ttaaaagaga aagaggggga agtctttact ttaacaaagc agttgaatac tttgaaggat
     6061 ctttttgcca aagccgataa agagaaactt actttgcaga ggaaactaaa aacaactggc
     6121 atgactgttg atcaggtttt gggaatacga gctttggagt cagaaaaaga attggaagaa
     6181 ttaaaaaaga gaaatcttga cttagaaaat gatatattgt atatgagggc ccaccaagct
     6241 cttcctcgag attctgttgt agaagattta catttacaaa atagatacct ccaagaaaaa
     6301 cttcatgctt tagaaaaaca gttttcaaag gatacatatt ctaagccttc aatttcagga
     6361 atagagtcag atgatcattg tcagagagaa caggagcttc agaaggaaaa cttgaagttg
     6421 tcatctgaaa atattgaact gaaatttcag cttgaacaag caaataaaga tttgccaaga
     6481 ttaaagaatc aagtcagaga tttgaaggaa atgtgtgaat ttcttaagaa agaaaaagca
     6541 gaagttcagc ggaaacttgg ccatgttaga gggtctggta gaagtggaaa gacaatccca
     6601 gaactggaaa aaaccattgg tttaatgaaa aaagtagttg aaaaagtcca gagagaaaat
     6661 gaacagttga aaaaagcatc aggaatattg actagtgaaa aaatggctaa tattgagcag
     6721 gaaaatgaaa aattgaaggc tgaattagaa aaacttaaag ctcatcttgg gcatcagttg
     6781 agcatgcact atgaatccaa gaccaaaggc acagaaaaaa ttattgctga aaatgaaagg
     6841 cttcgtaaag aacttaaaaa agaaactgat gctgcagaga aattacggat agcaaagaat
     6901 aatttagaga tattaaatga gaagatgaca gttcaactag aagagactgg taagagattg
     6961 cagtttgcag aaagcagagg tccacagctt gaaggtgctg acagtaagag ctggaaatcc
     7021 attgtggtta caagaatgta tgaaaccaag ttaaaagaat tggaaactga tattgccaaa
     7081 aaaaatcaaa gcattactga ccttaaacag cttgtaaaag aagcaacaga gagagaacaa
     7141 aaagttaaca aatacaatga agaccttgaa caacagatta agattcttaa acatgttcct
     7201 gaaggtgctg agacagagca aggccttaaa cgggagcttc aagttcttag attagctaat
     7261 catcagctgg ataaagagaa agcagaatta atccatcaga tagaagctaa caaggaccaa
     7321 agtggagctg aaagcaccat acctgatgct gatcaactaa aggaaaaaat aaaagatcta
     7381 gagacacagc tcaaaatgtc agatctagaa aagcagcatt tgaaggagga aataaagaag
     7441 ctgaaaaaag aactggaaaa ttttgatcct tcattttttg aagaaattga agatcttaag
     7501 tataattaca aggaagaagt gaagaagaat attctcttag aagagaaggt aaaaaaactt
     7561 tcagaacaat tgggagttga attaactagc cctgttgctg cttctgaaga gtttgaagat
     7621 gaagaagaaa gtcctgttaa tttccccatt tactaaaggt cacctataaa ctttgtttca
     7681 tttaactatt tattaacttt ataagttaaa tatacttgga aataagcagt tctccgaact
     7741 gtagtatttc cttctcacta ccttgtacct ttatacttag attggaattc ttaataaata
     7801 aaattatatg aaattttcaa ctta
//
