AutismKB 2.0

Evidence Details for OPTC


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Basic Information Top
Gene Symbol:OPTC ( OPT )
Gene Full Name: opticin
Band: 1q32.1
Quick LinksEntrez ID:26254; OMIM: 605127; Uniprot ID:OPT_HUMAN; ENSEMBL ID: ENSG00000188770; HGNC ID: 8158
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OPTC|26254|nucleotide
ATGAGGCTCCTGGCTTTCCTGAGTCTGCTGGCCTTGGTGCTGCAGGAGACAGGGACAGCTTCTCTCCCAAGGAAGGAGAGGAAGAGGAGAGAGGAGCAGATGCCC
AGGGAAGGCGATTCCTTTGAAGTTCTGCCTCTGCGGAATGATGTCCTGAACCCAGACAACTATGGTGAAGTCATTGACCTGAGCAACTATGAGGAGCTCACAGAT
TATGGGGACCAACTCCCCGAGGTTAAGGTGACTAGCCTCGCTCCTGCAACCAGCATCAGTCCCGCCAAGAGCACTACGGCTCCAGGGACACCCTCGTCAAACCCC
ACGATGACCAGACCTACTACAGCAGGGCTGCTACTGAGTTCCCAGCCCAACCATGGTCTGCCCACCTGCCTGGTCTGCGTGTGCCTCGGTTCCTCTGTGTATTGC
GATGACATTGACCTAGAGGACATTCCTCCTCTTCCTCGGAGGACTGCCTACCTGTATGCACGCTTCAACCGCATCAGCCGTATCAGGGCCGAAGACTTCAAAGGG
CTGACAAAGTTGAAGAGGATTGACCTCTCCAACAACCTCATTTCCTCCATCGATAATGATGCCTTCCGCCTGCTACATGCCCTCCAGGACCTCATCCTCCCAGAG
AACCAGTTGGAAGCTCTGCCCGTGCTGCCCAGTGGCATTGAGTTCCTGGATGTCCGCCTAAATCGGCTCCAGAGCTCGGGGATACAGCCTGCAGCCTTCAGGGCA
ATGGAGAAGCTGCAGTTCCTTTACCTGTCAGACAACCTGCTGGATTCTATCCCGGGGCCTTTGCCCCTGAGCCTGCGCTCTGTACACCTGCAGAATAACCTGATA
GAGACCATGCAGAGAGACGTCTTCTGTGACCCCGAGGAGCACAAACACACCCGCAGGCAGCTGGAAGACATCCGCCTGGATGGCAACCCCATCAACCTCAGCCTC
TTCCCCAGCGCCTACTTCTGCCTGCCTCGGCTCCCCATCGGCCGCTTCACGTAG

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>OPTC|26254|protein
MRLLAFLSLLALVLQETGTASLPRKERKRREEQMPREGDSFEVLPLRNDVLNPDNYGEVIDLSNYEELTDYGDQLPEVKVTSLAPATSISPAKSTTAPGTPSSNP
TMTRPTTAGLLLSSQPNHGLPTCLVCVCLGSSVYCDDIDLEDIPPLPRRTAYLYARFNRISRIRAEDFKGLTKLKRIDLSNNLISSIDNDAFRLLHALQDLILPE
NQLEALPVLPSGIEFLDVRLNRLQSSGIQPAAFRAMEKLQFLYLSDNLLDSIPGPLPLSLRSVHLQNNLIETMQRDVFCDPEEHKHTRRQLEDIRLDGNPINLSL
FPSAYFCLPRLPIGRFT

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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top