Evidence Details for OBSL1
Basic Information Top
Gene Symbol: | OBSL1 ( KIAA0657,MGC71026 ) |
---|---|
Gene Full Name: | obscurin-like 1 |
Band: | 2q35 |
Quick Links | Entrez 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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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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MKASSGDQGSPPCFLRFPRPVRVVSGAEAELKCVVLGEPPPVVVWEKGGQQLAASERLSFPADGAEHGLLLTAALPTDAGVYVCRARNAAGEAYAAAAVTVLEPP
ASDPELQPAERPLPSPGSGEGAPVFLTGPRSQWVLRGAEVVLTCRAGGLPEPTLYWEKDGMALDEVWDSSHFALQPGRAEDGPGASLALRILAARLPDSGVYVCH
ARNAHGHAQAGALLQVHQPPESPPADPDEAPAPVVEPLKCAPKTFWVNEGKHAKFRCYVMGKPEPEIEWHWEGRPLLPDRRRLMYRDRDGGFVLKVLYCQAKDRG
LYVCAARNSAGQTLSAVQLHVKEPRLRFTRPLQDVEGREHGIAVLECKVPNSRIPTAWFREDQRLLPCRKYEQIEEGTVRRLIIHRLKADDDGIYLCEMRGRVRT
VANVTVKGPILKRLPRKLDVLEGENAVLLVETLEAGVEGRWSRDGEELPVICQSSSGHMHALVLPGVTREDAGEVTFSLGNSRTTTLLRVKCVKHSPPGPPILAE
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Neale BM, 2012 | 175 | 175 | 173 | Patterns and rates of exonic de novo mutations in autism spectrum disorders. |
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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