2025-05-09 19:58:13, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_000554 4482 bp mRNA linear PRI 13-APR-2013 DEFINITION Homo sapiens cone-rod homeobox (CRX), mRNA. ACCESSION NM_000554 VERSION NM_000554.4 GI:189095267 KEYWORDS RefSeq. 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 4482) AUTHORS Huang,L., Xiao,X., Li,S., Jia,X., Wang,P., Guo,X. and Zhang,Q. TITLE CRX variants in cone-rod dystrophy and mutation overview JOURNAL Biochem. Biophys. Res. Commun. 426 (4), 498-503 (2012) PUBMED 22960069 REMARK GeneRIF: In this study, three variations were detected in 3 of 130 families with CORD, including two novel mutations, c.239A>G (p.Glu80Gly) and c.362C>T (p.Ala121Val) REFERENCE 2 (bases 1 to 4482) AUTHORS Terry,J., Calicchio,M.L., Rodriguez-Galindo,C. and Perez-Atayde,A.R. TITLE Immunohistochemical expression of CRX in extracranial malignant small round cell tumors JOURNAL Am. J. Surg. Pathol. 36 (8), 1165-1169 (2012) PUBMED 22790857 REMARK GeneRIF: These findings suggest that CRX is a useful marker to discriminate metastatic retinoblastoma from other, more common, malignant small round cell tumors of childhood REFERENCE 3 (bases 1 to 4482) AUTHORS Seko,Y., Azuma,N., Kaneda,M., Nakatani,K., Miyagawa,Y., Noshiro,Y., Kurokawa,R., Okano,H. and Umezawa,A. TITLE Derivation of human differential photoreceptor-like cells from the iris by defined combinations of CRX, RX and NEUROD JOURNAL PLoS ONE 7 (4), E35611 (2012) PUBMED 22558175 REMARK GeneRIF: Photosensitive photoreceptor cells can be generated by combinations of transcription factors. The combination of CRX and RX generate immature photoreceptors: and additional NEUROD promotes maturation. REFERENCE 4 (bases 1 to 4482) AUTHORS Booij,J.C., Bakker,A., Kulumbetova,J., Moutaoukil,Y., Smeets,B., Verheij,J., Kroes,H.Y., Klaver,C.C., van Schooneveld,M., Bergen,A.A. and Florijn,R.J. TITLE Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip JOURNAL Ophthalmology 118 (1), 160-167 (2011) PUBMED 20801516 REMARK GeneRIF: Observational study of genetic testing. (HuGE Navigator) REFERENCE 5 (bases 1 to 4482) AUTHORS Huang,Y., Cai,M., Clore,G.M. and Craigie,R. TITLE No interaction of barrier-to-autointegration factor (BAF) with HIV-1 MA, cone-rod homeobox (Crx) or MAN1-C in absence of DNA JOURNAL PLoS ONE 6 (9), E25123 (2011) PUBMED 21966431 REMARK GeneRIF: Data show no interaction of barrier-to-autointegration factor (BAF) with HIV-1 MA, cone-rod homeobox (Crx) or MAN1-C in absence of DNA. REFERENCE 6 (bases 1 to 4482) AUTHORS Sohocki,M.M., Sullivan,L.S., Mintz-Hittner,H.A., Birch,D., Heckenlively,J.R., Freund,C.L., McInnes,R.R. and Daiger,S.P. TITLE A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene JOURNAL Am. J. Hum. Genet. 63 (5), 1307-1315 (1998) PUBMED 9792858 REFERENCE 7 (bases 1 to 4482) AUTHORS Freund,C.L., Wang,Q.L., Chen,S., Muskat,B.L., Wiles,C.D., Sheffield,V.C., Jacobson,S.G., McInnes,R.R., Zack,D.J. and Stone,E.M. TITLE De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis JOURNAL Nat. Genet. 18 (4), 311-312 (1998) PUBMED 9537410 REFERENCE 8 (bases 1 to 4482) AUTHORS Swain,P.K., Chen,S., Wang,Q.L., Affatigato,L.M., Coats,C.L., Brady,K.D., Fishman,G.A., Jacobson,S.G., Swaroop,A., Stone,E., Sieving,P.A. and Zack,D.J. TITLE Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration JOURNAL Neuron 19 (6), 1329-1336 (1997) PUBMED 9427255 REFERENCE 9 (bases 1 to 4482) AUTHORS Freund,C.L., Gregory-Evans,C.Y., Furukawa,T., Papaioannou,M., Looser,J., Ploder,L., Bellingham,J., Ng,D., Herbrick,J.A., Duncan,A., Scherer,S.W., Tsui,L.C., Loutradis-Anagnostou,A., Jacobson,S.G., Cepko,C.L., Bhattacharya,S.S. and McInnes,R.R. TITLE Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor JOURNAL Cell 91 (4), 543-553 (1997) PUBMED 9390563 REFERENCE 10 (bases 1 to 4482) AUTHORS Evans,K., Fryer,A., Inglehearn,C., Duvall-Young,J., Whittaker,J.L., Gregory,C.Y., Butler,R., Ebenezer,N., Hunt,D.M. and Bhattacharya,S. TITLE Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion JOURNAL Nat. Genet. 6 (2), 210-213 (1994) PUBMED 8162077 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL711350.1, BT007364.1, AF335249.1, AC008745.7 and BU736672.1. This sequence is a reference standard in the RefSeqGene project. On May 28, 2008 this sequence version replaced gi:87196337. Summary: The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [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 :: AL711350.1, BC016664.1 [ECO:0000332] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-565 AL711350.1 1-565 566-1104 BT007364.1 362-900 1105-1872 AF335249.1 1-768 1873-1874 AC008745.7 120950-120951 1875-2225 AF335249.1 771-1121 2226-2227 AC008745.7 121303-121304 2228-4466 AF335249.1 1124-3362 4467-4482 BU736672.1 1-16 c FEATURES Location/Qualifiers source 1..4482 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="19" /map="19q13.3" gene 1..4482 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /note="cone-rod homeobox" /db_xref="GeneID:1406" /db_xref="HGNC:2383" /db_xref="HPRD:03748" /db_xref="MIM:602225" exon 1..169 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /inference="alignment:Splign:1.39.8" variation 30 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:142297785" variation 81 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="g" /replace="t" /db_xref="dbSNP:190144153" variation 89 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:10418215" variation 119 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:193162118" misc_feature 127..129 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /note="upstream in-frame stop codon" exon 170..304 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /inference="alignment:Splign:1.39.8" STS 173..421 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /standard_name="Crx" /db_xref="UniSTS:536452" variation 197 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:371111993" variation 198 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:200832191" CDS 205..1104 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /note="orthodenticle homeobox 3" /codon_start=1 /product="cone-rod homeobox protein" /protein_id="NP_000545.1" /db_xref="GI:4557489" /db_xref="CCDS:CCDS12706.1" /db_xref="GeneID:1406" /db_xref="HGNC:2383" /db_xref="HPRD:03748" /db_xref="MIM:602225" /translation="
MMAYMNPGPHYSVNALALSGPSVDLMHQAVPYPSAPRKQRRERTTFTRSQLEELEALFAKTQYPDVYAREEVALKINLPESRVQVWFKNRRAKCRQQRQQQKQQQQPPGGQAKARPAKRKAGTSPRPSTDVCPDPLGISDSYSPPLPGPSGSPTTAVATVSIWSPASESPLPEAQRAGLVASGPSLTSAPYAMTYAPASAFCSSPSAYGSPSSYFSGLDPYLSPMVPQLGGPALSPLSGPSVGPSLAQSPTSLSGQSYGAYSPVDSLEFKDPTGTWKFTYNPMDPLDYKDQSAWKFQIL
" misc_feature 322..486 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /note="Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner; Region: homeodomain; cd00086" /db_xref="CDD:28970" misc_feature order(322..336,340..342,391..393,409..411,448..450, 454..459,466..471,475..483) /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(328..330,337..339,457..459,466..471,478..480) /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" STS 205..1104 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /standard_name="Crx" /db_xref="UniSTS:546710" variation 213 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:140766502" variation 214 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:150122798" variation 217 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:145337312" variation 225..226 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="g" /db_xref="dbSNP:62636512" variation 226 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="g" /db_xref="dbSNP:146240568" variation 232 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="g" /db_xref="dbSNP:139340178" exon 305..456 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /inference="alignment:Splign:1.39.8" variation 306 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:139778328" variation 311 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="c" /db_xref="dbSNP:193920917" variation 325 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:104894672" variation 326 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:61748436" variation 327 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:181068147" variation 342 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:199607129" variation 370 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:61748437" variation 382 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:370973957" variation 400 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:61748438" variation 407 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:145649717" variation 417 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:185420673" variation 442 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:62654391" variation 443 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="c" /db_xref="dbSNP:104894671" exon 457..4467 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /inference="alignment:Splign:1.39.8" variation 472 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:104894673" variation 497 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:372219374" variation 513 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:138242846" variation 539 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:61748439" variation 555..556 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="c" /db_xref="dbSNP:61748440" variation 566 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:371847743" variation 567 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:141888455" variation 569 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:61748441" variation 572 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:201969424" variation 573 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:368752695" variation 616 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:373934471" variation 619 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:373281561" variation 629 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:61748442" variation 637 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:149300196" variation 640..651 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="ctgcccggcccc" /db_xref="dbSNP:281865202" variation 645 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:147422878" variation 648..649 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="c" /db_xref="dbSNP:61748444" variation 675 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="g" /db_xref="dbSNP:111549777" variation 676 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:61748445" variation 705..706 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="ag" /db_xref="dbSNP:61748446" variation 709 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="t" /db_xref="dbSNP:61748447" variation 724 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="g" /db_xref="dbSNP:281865515" variation 726 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:376827106" variation 733 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="g" /db_xref="dbSNP:61748449" variation 736 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="g" /db_xref="dbSNP:369142479" variation 745 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="g" /db_xref="dbSNP:61748450" variation 753 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:61748451" variation 755 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:147558800" variation 759 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="t" /db_xref="dbSNP:374770860" variation 768 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:148622001" variation 769 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:142111462" variation 772 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:151169551" variation 775 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="t" /db_xref="dbSNP:61748452" variation 789..790 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="c" /db_xref="dbSNP:61748453" variation 789 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:373497612" variation 791..794 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="cccc" /db_xref="dbSNP:61748454" variation 801 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:61748455" variation 819 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="c" /db_xref="dbSNP:281865516" variation 822 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:145117150" variation 823 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:376982187" variation 849 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:191794330" variation 853 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:146869548" variation 854 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="g" /db_xref="dbSNP:281865517" variation 913 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="c" /db_xref="dbSNP:281865518" variation 928 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:61748459" variation 930 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:371406142" variation 957 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="c" /db_xref="dbSNP:61749660" variation 969 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:145913500" variation 981 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:373752882" variation 982 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:370592248" variation 993 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="c" /db_xref="dbSNP:281865519" variation 994 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:138146799" variation 1022 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:281865203" variation 1041 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="g" /db_xref="dbSNP:201875881" variation 1109 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:371493617" variation 1110 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:375770558" variation 1119 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:369336775" variation 1120 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:371964860" variation 1123 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:79186398" variation 1131 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:375168206" variation 1136 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:146699567" variation 1138 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:373098327" variation 1228 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="g" /replace="t" /db_xref="dbSNP:184746132" variation 1340 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="g" /replace="t" /db_xref="dbSNP:4133100" variation 1412..1414 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="aag" /db_xref="dbSNP:5828321" variation 1412 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="aag" /db_xref="dbSNP:34608204" variation 1416..1418 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="aga" /db_xref="dbSNP:3859429" variation 1419..1421 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="agt" /db_xref="dbSNP:201469714" variation 1461 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:140211833" variation 1504..1505 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="aa" /replace="tc" /db_xref="dbSNP:70954417" variation 1504 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="t" /db_xref="dbSNP:3848536" variation 1505 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="c" /db_xref="dbSNP:3848537" variation 1526 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="g" /replace="t" /db_xref="dbSNP:370023906" variation 1535 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="g" /replace="t" /db_xref="dbSNP:145243336" variation 1540 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="g" /replace="t" /replace="tt" /db_xref="dbSNP:200074259" variation 1631 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:371749408" STS 1634..1738 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /standard_name="D8S2278" /db_xref="UniSTS:473906" STS 1642..1733 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /standard_name="D8S2279" /db_xref="UniSTS:473907" variation 1683 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:4356586" variation 1695 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="g" /db_xref="dbSNP:3859430" variation 1699 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:111448395" variation 1708 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="g" /replace="t" /db_xref="dbSNP:150175309" STS 1715..2128 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /standard_name="D11S3114" /db_xref="UniSTS:152207" variation 1741 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:372726992" variation 1783 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:112202398" variation 1786 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:3859431" variation 1786 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="c" /replace="t" /db_xref="dbSNP:372476559" variation 1840..1841 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="tt" /replace="ttt" /db_xref="dbSNP:371206107" variation 1860..1861 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="ttt" /db_xref="dbSNP:60558029" variation 1873 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:55835533" variation 1964 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:185098538" variation 2070 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="g" /db_xref="dbSNP:3933489" variation 2076 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="g" /db_xref="dbSNP:12462416" STS 2108..3479 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /standard_name="GDB:631813" /db_xref="UniSTS:158430" STS 2145..2254 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /standard_name="G27385" /db_xref="UniSTS:8722" variation 2150 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:62128808" variation 2167 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:143939023" variation 2221 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="g" /db_xref="dbSNP:147243365" variation 2226 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="g" /db_xref="dbSNP:73576710" variation 2252 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="g" /db_xref="dbSNP:139073763" variation 2324 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:58323327" variation 2393 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:62128809" variation 2450 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:12462534" variation 2559 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="t" /db_xref="dbSNP:10418834" variation 2707 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="g" /db_xref="dbSNP:149514395" variation 2727..2728 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="t" /db_xref="dbSNP:59559801" variation 2729 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="c" /db_xref="dbSNP:200629088" variation 2754..2755 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="a" /db_xref="dbSNP:138321430" variation 2788 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:141564522" variation 2838 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:150910539" variation 2896 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:56226622" variation 2990 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:372298545" variation 2995 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="a" /db_xref="dbSNP:35850082" variation 3065 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:117186518" variation 3097..3098 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="g" /db_xref="dbSNP:36012288" variation 3121 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:73038753" variation 3143 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:189556251" variation 3144 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:139340702" variation 3210 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:12982537" variation 3241 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:181823708" variation 3259 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:113560570" variation 3275 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:77875912" variation 3287 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:7259671" variation 3403 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:73038757" variation 3421 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:374041145" variation 3440 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:185456543" variation 3479 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:188212480" variation 3484 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:62128810" variation 3500 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:374128749" variation 3591 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:376730350" variation 3643 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:146417527" variation 3663 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="g" /db_xref="dbSNP:12463238" variation 3714 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:371836526" STS 3800..3978 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /standard_name="G42186" /db_xref="UniSTS:105104" variation 3808 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:12974951" variation 3821 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="g" /replace="t" /db_xref="dbSNP:11666203" variation 3843 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:149039830" variation 3862 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="c" /db_xref="dbSNP:117717088" variation 3875..3876 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="" /replace="g" /db_xref="dbSNP:35378098" variation 3964 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="g" /db_xref="dbSNP:181436261" variation 3984 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:142202442" variation 4041 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:7248427" variation 4118 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:186373883" variation 4121 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:11666244" variation 4122 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:375943096" variation 4221 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:116336713" variation 4274 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:151224936" variation 4342 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="a" /replace="g" /db_xref="dbSNP:4081725" variation 4383 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:11666316" variation 4389 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="g" /db_xref="dbSNP:62128811" variation 4405 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" /replace="c" /replace="t" /db_xref="dbSNP:11670620" polyA_signal 4443..4448 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" polyA_site 4467 /gene="CRX" /gene_synonym="CORD2; CRD; LCA7; OTX3" ORIGIN
accttggccgggattaccctccgagttccaggccatgacaaatgacatcactcccggcccaggcttaaaatctccccatgtgaggggatgtgtttccttcagcctctgctgtctggccgctctgtctaggtcctgggccacgggagagccccgtccctcctttctgaaggccccctgacttgggcctcagtgtccccgaagatcatgatggcgtatatgaacccggggccccactattctgtcaacgccttggccctaagtggccccagtgtggatctgatgcaccaggctgtgccctacccaagcgcccccaggaagcagcggcgggagcgcaccaccttcacccggagccaactggaggagctggaggcactgtttgccaagacccagtacccagacgtctatgcccgtgaggaggtggctctgaagatcaatctgcctgagtccagggttcaggtttggttcaagaaccggagggctaaatgcaggcagcagcgacagcagcagaaacagcagcagcagcccccagggggccaggccaaggcccggcctgccaagaggaaggcgggcacgtccccaagaccctccacagatgtgtgtccagaccctctgggcatctcagattcctacagtccccctctgcccggcccctcaggctccccaaccacggcagtggccactgtgtccatctggagcccagcctcagagtcccctttgcctgaggcgcagcgggctgggctggtggcctcagggccgtctctgacctccgccccctatgccatgacctacgccccggcctccgctttctgctcttccccctccgcctatgggtctccgagctcctatttcagcggcctagacccctacctttctcccatggtgccccagctagggggcccggctcttagccccctctctggcccctccgtgggaccttccctggcccagtcccccacctccctatcaggccagagctatggcgcctacagccccgtggatagcttggaattcaaggaccccacgggcacctggaaattcacctacaatcccatggaccctctggactacaaggatcagagtgcctggaagtttcagatcttgtagaggacgcagtctccatctctctccatcgggcctcgggaccctttctcttctgaatctgcttccctgcagtttagatcccgggatggcattcctgagaaagcaacccgaaccagctgtccttctgacagctcggtgttcagcttacagagaccacccctttcctccacagggagaggctcctccctctcctgggacagctcacaggtcctagtgattctctcaaccctaacaccgtctggcacgattgtgaccgctgaagtacaccacgagctccaggcttcagaaagtggtgctgagaacttgctccaagaagaagtcaaaccaaacttgcagttgatttggggtcatgtttaggtcagaatcaccgtgcccttgaacaagcaggtaggggggcttgataacttaactttccacgtggacagaatttttttttttgttttgtttttgttttgcagacacagtctagctctgtcgcccaggctggagtgcagtggcacgatctcagctcactgcaagctctacctcccgggttcacgccattctcctgcctcagcctcccgagtagctgggactacagatgcccaccaccaggcccggctaattttttttgtatttttagtagagacggggtttcaccgtgttagccaggatggtctcgatctcctgacctcgtgatccgcccgcctcggcctcccaaagtgctaggattacaggcgtgagccaccgcgcccggcccttttttttttttttttttttaattgagacggagtctcactcttttgcttaggctggagtgcagtggtgtgatctcagctcactgactgcaacctccacctcccgggttgaagcgttgctcctgcctcaatctcccaattagctgggattacaggtgtgctccatcatgcccggctaatttttctattattagtagagacagggttttaccatgttggccaggctggtctggaacccctgacctcaagtgatccgcctgcctcggcctcccaaagtgctgggattacaggcatgagccattgtgcctggccctacacgtggacacttctttagcatatggttagggacctttctagaaattccaaagacagactttaagaagccccgtcgggaaaccttaggccaatgatgtggttacattaaaaataaattatctgggaatttcacagacttcacaaatgtcaggcttacatggtaggtttaggggaccgtttgagagacaaagatctacattcatatatgtagctatacatatatgtactttttcttcttagtttctttttaaagacattttatcactcattcgctcattagcacattgggaatgtgtgtatttggtagggaaatgaaaggcaccttgcctgttccatctctactccttttttcttttgttttaggattttctaaaggtgagacactggtggaactggggtagctgcttgggacgtaccacctatagttgtggctatttcacagagaagcagcagctagacagactcccatctgtaaataaacaagagataggaagagggggaaatagatttggaggaggcagccctacatttcaaacatacattcccttttttagatttttttttttttttttttggttttcagttttgatggtgggattggaaaatagagcttggcttgaggacattttcctggggtggcaccattatttcttgaaatagaatcttacttatggtgacactggcaagcacttgtgagaacctgaagacggattgaggtcatttgatgctcagaagttgggtgctgggtccctgccttctcagtccgagttctcctttcatttttgggtggggaggcgggttccaagagcccttcattggtggagttcacaaggcaaggtgtaaaaaaaaaagtagggcaggaagacagtggtgtgctggcagaggtctaacaatgggctctccaaggaagaggaaaaggttggttgtggagtgtttgtcagtttccgtggtgtaaatactcccaccacggctgacttcaagctagcaaccggaggtcactgaactaagagttgggaagagatagggcacaatatatgcttacgagttggtacacaccgtcagcagcagccagggtcaggagaaaggcgagatgtgaagagaggccgggaggtatcagatgacgtttccagcactagaccagaagaggtgcacacagcctagaccccctgaggggtacaccctgatctctagagcccacaaagaggtttttattcaacataaaacgtgttcatctctcataggcctgagtcatgctgggttctgggacattaagcccaggagtgggccgggtgcggtggctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcacctgaggtcaggagttcgagaccagcctggccaacatggtgaaaccctgtctctactaataatacaaaaattagccgggcatggtggcacgcgcctgtaatcccagctactcgggaggctgaggcaggagaattgctggaacccgggaggcggaggttgaagagagcagagattgtgccactgtgctctagcctgggtcacaagagcgaaactccgtctcaataataacaacaacaaaaataacccaggagtggctcaagagtccagtgtgggatgaaaatataaacagaggaagacaacatatgtcactggggaggctgggggagctagacaaaattcacacgggaggggcagggatgagacaatattgtgccctgggtctgtgcaaacgttgggaccagaatccactataagtttcattcttcggagacacggaagctctgcactggaggccgggactcaggcgtggaagagaatcttctccttattcaccggggaggctgtgtcttgtgcaaacaagtcatagaaacttgatgggagttggggagggactgaaggatgcatgcaaggttctgggaaggagtgagaagtagtgaaggccaaggggcccccatcacaggccgatggggtaagacttcgagagagcctgatcctggggtcttctgagactccaccaggagccggagagggcagggagccaaatccagctaggaggttacagattgcttttcctgggctgggctcctgagtgttggttcttccagctgtgcacaggggatttcaaacgttctacgtcctaaagccaggaagagtgacaaggcaggtggggacagaaggaagaagccaggagcctccctgagaaggtgtcaccttatctgtcctcctcttccccacacactggcctctgggtcccccttctctgtccacccacagagtgaaaccaattaaaatgttggatctcatttaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:1406 -> Molecular function: GO:0003682 [chromatin binding] evidence: IEA GeneID:1406 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:1406 -> Molecular function: GO:0043522 [leucine zipper domain binding] evidence: IPI GeneID:1406 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:1406 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:1406 -> Biological process: GO:0007601 [visual perception] evidence: IEA GeneID:1406 -> Biological process: GO:0009887 [organ morphogenesis] evidence: TAS GeneID:1406 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA GeneID:1406 -> Biological process: GO:0050896 [response to stimulus] evidence: IEA GeneID:1406 -> Biological process: GO:0060041 [retina development in camera-type eye] evidence: IEA GeneID:1406 -> Cellular component: GO:0005667 [transcription factor complex] evidence: IEA
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