AutismKB 2.0

Evidence Details for OBSL1


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Basic Information Top
Gene Symbol:OBSL1 ( KIAA0657,MGC71026 )
Gene Full Name: obscurin-like 1
Band: 2q35
Quick LinksEntrez ID:23363; OMIM: 610991; Uniprot ID:A4KVA4_HUMAN; ENSEMBL ID: ENSG00000124006; HGNC ID: 29092
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OBSL1|23363|nucleotide
ATGAAGGCGAGCTCGGGGGATCAGGGGAGCCCCCCGTGCTTCCTGCGCTTCCCGCGGCCTGTGCGGGTGGTAAGTGGCGCCGAGGCCGAGCTCAAGTGCGTGGTC
CTGGGGGAGCCGCCGCCTGTAGTGGTGTGGGAGAAGGGCGGGCAGCAGCTGGCGGCCTCGGAACGCCTGAGCTTCCCGGCGGACGGCGCGGAGCACGGCCTGCTG
CTGACCGCCGCACTGCCCACCGACGCGGGGGTCTACGTGTGCCGCGCCCGCAACGCGGCCGGCGAGGCCTACGCGGCGGCCGCCGTCACCGTGCTGGAGCCGCCG
GCCTCCGACCCCGAGCTGCAGCCCGCCGAGCGCCCGCTGCCATCGCCGGGGTCCGGGGAGGGCGCCCCGGTCTTCCTCACGGGGCCTCGATCCCAGTGGGTGCTG
CGGGGGGCGGAGGTGGTGCTGACGTGCCGGGCGGGGGGCCTCCCCGAGCCCACACTGTACTGGGAGAAGGACGGGATGGCCCTGGACGAAGTGTGGGACAGCAGC
CACTTCGCGCTCCAGCCGGGCCGCGCCGAGGACGGCCCCGGCGCGAGCCTGGCACTGCGCATCCTGGCGGCTCGGCTGCCGGATTCCGGCGTCTACGTGTGCCAC
GCCCGCAACGCGCACGGCCACGCGCAGGCGGGGGCGCTGCTCCAGGTGCACCAGCCCCCCGAGAGCCCGCCCGCGGACCCCGACGAGGCCCCCGCGCCGGTGGTG
GAGCCGCTCAAGTGCGCGCCTAAGACCTTCTGGGTGAACGAGGGCAAGCACGCCAAGTTCCGCTGCTACGTGATGGGCAAGCCCGAGCCCGAGATCGAATGGCAC
TGGGAGGGCCGCCCGCTGCTCCCGGACCGCCGCCGCCTCATGTACCGCGACCGCGACGGCGGCTTCGTGCTCAAGGTGCTTTACTGCCAGGCCAAGGATCGTGGG
CTCTACGTCTGCGCCGCGCGCAACTCGGCGGGCCAGACGCTCAGTGCCGTGCAGCTGCACGTGAAAGAGCCCCGCCTCCGGTTCACACGGCCCCTGCAGGACGTG
GAGGGCCGTGAGCACGGGATTGCCGTGCTGGAATGTAAAGTACCCAACTCCCGCATCCCCACGGCCTGGTTCCGTGAGGACCAGCGGCTGCTGCCCTGCCGCAAG
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>OBSL1|23363|protein
MKASSGDQGSPPCFLRFPRPVRVVSGAEAELKCVVLGEPPPVVVWEKGGQQLAASERLSFPADGAEHGLLLTAALPTDAGVYVCRARNAAGEAYAAAAVTVLEPP
ASDPELQPAERPLPSPGSGEGAPVFLTGPRSQWVLRGAEVVLTCRAGGLPEPTLYWEKDGMALDEVWDSSHFALQPGRAEDGPGASLALRILAARLPDSGVYVCH
ARNAHGHAQAGALLQVHQPPESPPADPDEAPAPVVEPLKCAPKTFWVNEGKHAKFRCYVMGKPEPEIEWHWEGRPLLPDRRRLMYRDRDGGFVLKVLYCQAKDRG
LYVCAARNSAGQTLSAVQLHVKEPRLRFTRPLQDVEGREHGIAVLECKVPNSRIPTAWFREDQRLLPCRKYEQIEEGTVRRLIIHRLKADDDGIYLCEMRGRVRT
VANVTVKGPILKRLPRKLDVLEGENAVLLVETLEAGVEGRWSRDGEELPVICQSSSGHMHALVLPGVTREDAGEVTFSLGNSRTTTLLRVKCVKHSPPGPPILAE
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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 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top