Evidence Details for ASB15
Basic Information Top
Gene Symbol: | ASB15 ( DKFZp779M1258,FLJ43370 ) |
---|---|
Gene Full Name: | ankyrin repeat and SOCS box-containing 15 |
Band: | 7q31.32 |
Quick Links | Entrez ID:142685; OMIM: NA; Uniprot ID:ASB15_HUMAN; ENSEMBL ID: ENSG00000146809; HGNC ID: 19767 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ASB15|142685|nucleotide
ATGGATACTAATGATGACCCTGATGAAGACCATCTTACAAGTTATGATATTCAGCTAAGTATTCAAGAATCCATTGAAGCCAGCAAGACTGCACTTTGTCCTGAA
AGATTTGTACCCCTAAGTGCTCAAAACAGAAAACTTGTGGAGGCCATAAAACAAGGTCACATTCCTGAGCTCCAGGAGTATGTAAAATATAAATATGCAATGGAT
GAAGCTGATGAAAAAGGATGGTTTCCATTGCATGAAGCTGTTGTTCAACCCATTCAACAAATACTTGAGATTGTTCTGGATGCATCCTATAAGACACTCTGGGAA
TTCAAGACCTGTGATGGAGAAACACCCTTGACTTTGGCAGTCAAAGCTGGTCTGGTGGAAAATGTAAGAACTTTATTAGAAAAGGGAGTGTGGCCCAACACAAAA
AATGATAAAGGAGAGACCCCCCTTCTGATTGCTGTGAAAAAGGGCTCCTATGACATGGTGTCGACTCTGATCAAACATAACACTAGCCTAGACCAGCCCTGTGTC
AAGCGATGGTCAGCAATGCATGAAGCAGCCAAGCAAGGCCGAAAAGATATCGTAGCTCTGCTGCTGAAACATGGAGGCAATGTCCACCTGAGAGATGGATTTGGA
GTCACACCACTAGGCGTCGCTGCCGAGTATGGTCACTGTGACGTGTTAGAACATCTAATCCACAAAGGTGGTGATGTGCTTGCTTTGGCGGATGATGGGGCGTCG
GTGCTGTTTGAGGCAGCAGGAGGTGGCAATCCCGACTGCATTTCCCTCCTGCTGGAATATGGAGGAAGCGGAAATGTACCTAACCGAGCAGGACATCTTCCTATA
CACCGAGCTGCCTATGAGGGGCATTATCTTGCACTGAAATATCTTATCCCAGTAACATCTAAAAATGCAATTCGGAAAAGTGGGCTAACACCAATTCACTCAGCA
GCAGATGGACAAAATGCACAGTGTCTAGAACTGCTCATTGAAAATGGTTTTGATGTCAACACTCTACTTGCTGACCACATTTCCCAGAGCTATGACGATGAGAGG
AAGACTGCGCTGTATTTTGGCGTTTCTAATAATGACGTTCATTGCACAGAAGTCCTTCTGGCTGCAGGTGCAGACCCAAACTTAGATCCCCTCAACTGTCTACTT
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ATGGATACTAATGATGACCCTGATGAAGACCATCTTACAAGTTATGATATTCAGCTAAGTATTCAAGAATCCATTGAAGCCAGCAAGACTGCACTTTGTCCTGAA
AGATTTGTACCCCTAAGTGCTCAAAACAGAAAACTTGTGGAGGCCATAAAACAAGGTCACATTCCTGAGCTCCAGGAGTATGTAAAATATAAATATGCAATGGAT
GAAGCTGATGAAAAAGGATGGTTTCCATTGCATGAAGCTGTTGTTCAACCCATTCAACAAATACTTGAGATTGTTCTGGATGCATCCTATAAGACACTCTGGGAA
TTCAAGACCTGTGATGGAGAAACACCCTTGACTTTGGCAGTCAAAGCTGGTCTGGTGGAAAATGTAAGAACTTTATTAGAAAAGGGAGTGTGGCCCAACACAAAA
AATGATAAAGGAGAGACCCCCCTTCTGATTGCTGTGAAAAAGGGCTCCTATGACATGGTGTCGACTCTGATCAAACATAACACTAGCCTAGACCAGCCCTGTGTC
AAGCGATGGTCAGCAATGCATGAAGCAGCCAAGCAAGGCCGAAAAGATATCGTAGCTCTGCTGCTGAAACATGGAGGCAATGTCCACCTGAGAGATGGATTTGGA
GTCACACCACTAGGCGTCGCTGCCGAGTATGGTCACTGTGACGTGTTAGAACATCTAATCCACAAAGGTGGTGATGTGCTTGCTTTGGCGGATGATGGGGCGTCG
GTGCTGTTTGAGGCAGCAGGAGGTGGCAATCCCGACTGCATTTCCCTCCTGCTGGAATATGGAGGAAGCGGAAATGTACCTAACCGAGCAGGACATCTTCCTATA
CACCGAGCTGCCTATGAGGGGCATTATCTTGCACTGAAATATCTTATCCCAGTAACATCTAAAAATGCAATTCGGAAAAGTGGGCTAACACCAATTCACTCAGCA
GCAGATGGACAAAATGCACAGTGTCTAGAACTGCTCATTGAAAATGGTTTTGATGTCAACACTCTACTTGCTGACCACATTTCCCAGAGCTATGACGATGAGAGG
AAGACTGCGCTGTATTTTGGCGTTTCTAATAATGACGTTCATTGCACAGAAGTCCTTCTGGCTGCAGGTGCAGACCCAAACTTAGATCCCCTCAACTGTCTACTT
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>ASB15|142685|protein
MDTNDDPDEDHLTSYDIQLSIQESIEASKTALCPERFVPLSAQNRKLVEAIKQGHIPELQEYVKYKYAMDEADEKGWFPLHEAVVQPIQQILEIVLDASYKTLWE
FKTCDGETPLTLAVKAGLVENVRTLLEKGVWPNTKNDKGETPLLIAVKKGSYDMVSTLIKHNTSLDQPCVKRWSAMHEAAKQGRKDIVALLLKHGGNVHLRDGFG
VTPLGVAAEYGHCDVLEHLIHKGGDVLALADDGASVLFEAAGGGNPDCISLLLEYGGSGNVPNRAGHLPIHRAAYEGHYLALKYLIPVTSKNAIRKSGLTPIHSA
ADGQNAQCLELLIENGFDVNTLLADHISQSYDDERKTALYFGVSNNDVHCTEVLLAAGADPNLDPLNCLLVAVRANNYEIVRLLLSHGANVNCYFMHVNDTRFPS
VIQYALNDEVMLRLLLNNGYQVEMCFDCMHGDIFGNSFVWSEIQEEVLPGWTSCVIKDNPFCEFITVPWMKHLVGRVTRVLIDYMDYVPLCAKLKSALEVQREWP
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MDTNDDPDEDHLTSYDIQLSIQESIEASKTALCPERFVPLSAQNRKLVEAIKQGHIPELQEYVKYKYAMDEADEKGWFPLHEAVVQPIQQILEIVLDASYKTLWE
FKTCDGETPLTLAVKAGLVENVRTLLEKGVWPNTKNDKGETPLLIAVKKGSYDMVSTLIKHNTSLDQPCVKRWSAMHEAAKQGRKDIVALLLKHGGNVHLRDGFG
VTPLGVAAEYGHCDVLEHLIHKGGDVLALADDGASVLFEAAGGGNPDCISLLLEYGGSGNVPNRAGHLPIHRAAYEGHYLALKYLIPVTSKNAIRKSGLTPIHSA
ADGQNAQCLELLIENGFDVNTLLADHISQSYDDERKTALYFGVSNNDVHCTEVLLAAGADPNLDPLNCLLVAVRANNYEIVRLLLSHGANVNCYFMHVNDTRFPS
VIQYALNDEVMLRLLLNNGYQVEMCFDCMHGDIFGNSFVWSEIQEEVLPGWTSCVIKDNPFCEFITVPWMKHLVGRVTRVLIDYMDYVPLCAKLKSALEVQREWP
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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 (3) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Marshall, 2008 | - | SNP microarray | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | ||
Okamoto, 2011 | Japan | - | ASD | - | - | - | - | 1 | - | 1 | ||
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Allen-Brady, 2010 | USA | SNP-based genomic screen | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
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 |
---|---|---|---|---|
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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