Evidence Details for TBC1D10A
Basic Information Top
Gene Symbol: | TBC1D10A ( EPI64,TBC1D10,dJ130H16.1,dJ130H16.2 ) |
---|---|
Gene Full Name: | TBC1 domain family, member 10A |
Band: | 22q12.2 |
Quick Links | Entrez ID:83874; OMIM: 610020; Uniprot ID:TB10A_HUMAN; ENSEMBL ID: ENSG00000099992; HGNC ID: 23609 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>TBC1D10A|83874|nucleotide
ATGGCGAAGAGCAACGGAGAGAATGGGCCGCGCGCGCCCGCGGCCGGGGAAAGCCTGTCGGGAACCCGGGAGAGCCTGGCCCAGGGCCCCGACGCCGCAACCACC
GACGAACTCAGCTCTCTCGGGTCTGACTCGGAGGCCAACGGCTTCGCCGAGCGCCGCATCGACAAGTTCGGCTTCATCGTGGGCTCGCAGGGCGCCGAGGGCGCG
CCCTGCCCTCTGCTCCACAGGCTGGAGGAAGTACCCCTGGAGGTGCTGAGGCAGAGGGAGTCCAAGTGGCTGGACATGCTCAACAACTGGGACAAATGGATGGCC
AAGAAGCACAAAAAGATTCGTCTGCGGTGCCAAAAGGGCATCCCGCCTTCTCTGCGGGGCCGTGCTTGGCAGTACCTGTCAGGAGGCAAGGTGAAGTTACAGCAG
AACCCTGGAAAGTTTGACGAGCTGGACATGTCCCCTGGGGACCCCAAGTGGCTGGACGTGATTGAGCGTGACCTGCACCGGCAGTTCCCATTCCATGAGATGTTT
GTGTCCCGGGGGGGCCACGGCCAGCAGGACCTATTCCGTGTGCTGAAGGCCTACACGCTGTACCGGCCCGAGGAGGGCTACTGCCAGGCCCAGGCGCCCATTGCC
GCTGTCTTGCTCATGCATATGCCTGCTGAGCAAGCCTTCTGGTGCCTGGTACAGATCTGTGAGAAGTACCTGCCCGGCTACTACAGCGAGAAACTGGAGGCGATC
CAGCTGGACGGGGAGATCCTTTTCTCGCTGTTGCAGAAGGTGTCGCCGGTGGCCCACAAGCACCTCAGCCGTCAGAAGATCGACCCGCTCCTCTATATGACAGAA
TGGTTCATGTGCGCCTTCTCCCGAACCTTGCCCTGGAGCTCTGTGCTGCGTGTCTGGGACATGTTCTTCTGTGAAGGGGTCAAGATCATCTTCCGGGTGGGGCTG
GTGCTGCTGAAGCACGCGCTGGGCTCCCCTGAGAAGGTCAAAGCCTGCCAGGGCCAGTACGAGACCATCGAGCGACTGCGGAGCCTCAGCCCCAAGATCATGCAG
GAGGCCTTTCTGGTCCAGGAGGTGGTGGAGTTGCCCGTGACAGAGCGCCAGATTGAGCGCGAACACCTCATTCAGCTGCGGCGCTGGCAGGAGACCCGGGGTGAG
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ATGGCGAAGAGCAACGGAGAGAATGGGCCGCGCGCGCCCGCGGCCGGGGAAAGCCTGTCGGGAACCCGGGAGAGCCTGGCCCAGGGCCCCGACGCCGCAACCACC
GACGAACTCAGCTCTCTCGGGTCTGACTCGGAGGCCAACGGCTTCGCCGAGCGCCGCATCGACAAGTTCGGCTTCATCGTGGGCTCGCAGGGCGCCGAGGGCGCG
CCCTGCCCTCTGCTCCACAGGCTGGAGGAAGTACCCCTGGAGGTGCTGAGGCAGAGGGAGTCCAAGTGGCTGGACATGCTCAACAACTGGGACAAATGGATGGCC
AAGAAGCACAAAAAGATTCGTCTGCGGTGCCAAAAGGGCATCCCGCCTTCTCTGCGGGGCCGTGCTTGGCAGTACCTGTCAGGAGGCAAGGTGAAGTTACAGCAG
AACCCTGGAAAGTTTGACGAGCTGGACATGTCCCCTGGGGACCCCAAGTGGCTGGACGTGATTGAGCGTGACCTGCACCGGCAGTTCCCATTCCATGAGATGTTT
GTGTCCCGGGGGGGCCACGGCCAGCAGGACCTATTCCGTGTGCTGAAGGCCTACACGCTGTACCGGCCCGAGGAGGGCTACTGCCAGGCCCAGGCGCCCATTGCC
GCTGTCTTGCTCATGCATATGCCTGCTGAGCAAGCCTTCTGGTGCCTGGTACAGATCTGTGAGAAGTACCTGCCCGGCTACTACAGCGAGAAACTGGAGGCGATC
CAGCTGGACGGGGAGATCCTTTTCTCGCTGTTGCAGAAGGTGTCGCCGGTGGCCCACAAGCACCTCAGCCGTCAGAAGATCGACCCGCTCCTCTATATGACAGAA
TGGTTCATGTGCGCCTTCTCCCGAACCTTGCCCTGGAGCTCTGTGCTGCGTGTCTGGGACATGTTCTTCTGTGAAGGGGTCAAGATCATCTTCCGGGTGGGGCTG
GTGCTGCTGAAGCACGCGCTGGGCTCCCCTGAGAAGGTCAAAGCCTGCCAGGGCCAGTACGAGACCATCGAGCGACTGCGGAGCCTCAGCCCCAAGATCATGCAG
GAGGCCTTTCTGGTCCAGGAGGTGGTGGAGTTGCCCGTGACAGAGCGCCAGATTGAGCGCGAACACCTCATTCAGCTGCGGCGCTGGCAGGAGACCCGGGGTGAG
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>TBC1D10A|83874|protein
MAKSNGENGPRAPAAGESLSGTRESLAQGPDAATTDELSSLGSDSEANGFAERRIDKFGFIVGSQGAEGAPCPLLHRLEEVPLEVLRQRESKWLDMLNNWDKWMA
KKHKKIRLRCQKGIPPSLRGRAWQYLSGGKVKLQQNPGKFDELDMSPGDPKWLDVIERDLHRQFPFHEMFVSRGGHGQQDLFRVLKAYTLYRPEEGYCQAQAPIA
AVLLMHMPAEQAFWCLVQICEKYLPGYYSEKLEAIQLDGEILFSLLQKVSPVAHKHLSRQKIDPLLYMTEWFMCAFSRTLPWSSVLRVWDMFFCEGVKIIFRVGL
VLLKHALGSPEKVKACQGQYETIERLRSLSPKIMQEAFLVQEVVELPVTERQIEREHLIQLRRWQETRGELQCRSPPRLHGAKAILDAEPGPRPALQPSPSIRLP
LDAPLPGSKAKPKPPKQAQKEQRKQMKGRGQLEKPPAPNQAMVVAAAGDACPPQHVPPKDSAPKDSAPQDLAPQVSAHHRSQESLTSQESEDTYL
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MAKSNGENGPRAPAAGESLSGTRESLAQGPDAATTDELSSLGSDSEANGFAERRIDKFGFIVGSQGAEGAPCPLLHRLEEVPLEVLRQRESKWLDMLNNWDKWMA
KKHKKIRLRCQKGIPPSLRGRAWQYLSGGKVKLQQNPGKFDELDMSPGDPKWLDVIERDLHRQFPFHEMFVSRGGHGQQDLFRVLKAYTLYRPEEGYCQAQAPIA
AVLLMHMPAEQAFWCLVQICEKYLPGYYSEKLEAIQLDGEILFSLLQKVSPVAHKHLSRQKIDPLLYMTEWFMCAFSRTLPWSSVLRVWDMFFCEGVKIIFRVGL
VLLKHALGSPEKVKACQGQYETIERLRSLSPKIMQEAFLVQEVVELPVTERQIEREHLIQLRRWQETRGELQCRSPPRLHGAKAILDAEPGPRPALQPSPSIRLP
LDAPLPGSKAKPKPPKQAQKEQRKQMKGRGQLEKPPAPNQAMVVAAAGDACPPQHVPPKDSAPKDSAPQDLAPQVSAHHRSQESLTSQESEDTYL
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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 |
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Score (No. of Studies) | No | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
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 |
---|---|---|---|---|
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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