Evidence Details for KCTD3
Basic Information Top
Gene Symbol: | KCTD3 ( MGC43935,NY-REN-45 ) |
---|---|
Gene Full Name: | potassium channel tetramerisation domain containing 3 |
Band: | 1q41 |
Quick Links | Entrez ID:51133; OMIM: 613272; Uniprot ID:KCTD3_HUMAN; ENSEMBL ID: ENSG00000136636; HGNC ID: 21305 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>KCTD3|51133|nucleotide
ATGGCGGGAGGGCACTGCGGCAGCTTCCCCGCGGCGGCGGCCGGCAGCGGCGAGATCGTCCAACTGAACGTAGGGGGGACCAGATTTAGTACCTCAAGACAAACT
CTTATGTGGATTCCAGATTCTTTTTTTTCCAGTTTGCTGAGTGGGAGAATTTCAACACTTCGAGATGAAACTGGTGCTATATTTATTGATAGAGATCCAGCAGCA
TTTGCACCCATTTTAAATTTTCTTCGGACAAAAGAACTAGACTTAAGGGGAGTGAGTATTAATGTTCTCAGGCATGAAGCAGAATTTTACGGGATCACTCCATTA
GTAAGAAGGCTTCTCTTATGTGAAGAATTGGAGCGTTCCTCTTGTGGCAGTGTCCTTTTTCATGGTTACTTGCCCCCACCAGGTATTCCTAGTCGTAAAATAAAC
AACACAGTCAGATCTGCTGATTCTAGGAATGGTCTAAATTCTACAGAAGGTGAAGCCCGGGGAAATGGTACACAGCCTGTTCTCTCTGGAACGGGAGAAGAAACT
GTTAGGCTAGGATTTCCTGTGGATCCACGAAAGGTGCTAATAGTAGCTGGCCATCACAACTGGATTGTAGCTGCATATGCCCATTTTGCTGTGTGTTACAGAATC
AAAGAATCTTCAGGATGGCAGCAAGTGTTTACGAGCCCATATTTGGATTGGACTATCGAACGAGTAGCTTTAAATGCAAAGGTGGTTGGAGGGCCACATGGAGAC
AAAGACAAAATGGTTGCTGTTGCCTCAGAGAGTAGCATCATCTTGTGGAGTGTTCAGGATGGGGGAAGTGGAAGTGAAATTGGAGTGTTCAGCCTGGGTGTTCCT
GTAGATGCTCTCTTCTTTATTGGTAACCAGTTGGTGGCCACGAGTCATACAGGGAAAGTGGGAGTGTGGAATGCTGTCACTCAGCACTGGCAGGTTCAAGATGTT
GTTCCTATAACTAGTTATGACACTGCTGGATCATTCCTTCTGCTTGGATGTAACAATGGATCAATATATTACATAGATATGCAGAAGTTCCCCTTGCGAATGAAA
GATAATGATCTTCTTGTAACTGAACTGTATCATGATCCTTCAAATGATGCTATTACTGCTCTGAGTGTTTACCTCACACCCAAAACAAGTGTCAGTGGTAACTGG
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ATGGCGGGAGGGCACTGCGGCAGCTTCCCCGCGGCGGCGGCCGGCAGCGGCGAGATCGTCCAACTGAACGTAGGGGGGACCAGATTTAGTACCTCAAGACAAACT
CTTATGTGGATTCCAGATTCTTTTTTTTCCAGTTTGCTGAGTGGGAGAATTTCAACACTTCGAGATGAAACTGGTGCTATATTTATTGATAGAGATCCAGCAGCA
TTTGCACCCATTTTAAATTTTCTTCGGACAAAAGAACTAGACTTAAGGGGAGTGAGTATTAATGTTCTCAGGCATGAAGCAGAATTTTACGGGATCACTCCATTA
GTAAGAAGGCTTCTCTTATGTGAAGAATTGGAGCGTTCCTCTTGTGGCAGTGTCCTTTTTCATGGTTACTTGCCCCCACCAGGTATTCCTAGTCGTAAAATAAAC
AACACAGTCAGATCTGCTGATTCTAGGAATGGTCTAAATTCTACAGAAGGTGAAGCCCGGGGAAATGGTACACAGCCTGTTCTCTCTGGAACGGGAGAAGAAACT
GTTAGGCTAGGATTTCCTGTGGATCCACGAAAGGTGCTAATAGTAGCTGGCCATCACAACTGGATTGTAGCTGCATATGCCCATTTTGCTGTGTGTTACAGAATC
AAAGAATCTTCAGGATGGCAGCAAGTGTTTACGAGCCCATATTTGGATTGGACTATCGAACGAGTAGCTTTAAATGCAAAGGTGGTTGGAGGGCCACATGGAGAC
AAAGACAAAATGGTTGCTGTTGCCTCAGAGAGTAGCATCATCTTGTGGAGTGTTCAGGATGGGGGAAGTGGAAGTGAAATTGGAGTGTTCAGCCTGGGTGTTCCT
GTAGATGCTCTCTTCTTTATTGGTAACCAGTTGGTGGCCACGAGTCATACAGGGAAAGTGGGAGTGTGGAATGCTGTCACTCAGCACTGGCAGGTTCAAGATGTT
GTTCCTATAACTAGTTATGACACTGCTGGATCATTCCTTCTGCTTGGATGTAACAATGGATCAATATATTACATAGATATGCAGAAGTTCCCCTTGCGAATGAAA
GATAATGATCTTCTTGTAACTGAACTGTATCATGATCCTTCAAATGATGCTATTACTGCTCTGAGTGTTTACCTCACACCCAAAACAAGTGTCAGTGGTAACTGG
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>KCTD3|51133|protein
MAGGHCGSFPAAAAGSGEIVQLNVGGTRFSTSRQTLMWIPDSFFSSLLSGRISTLRDETGAIFIDRDPAAFAPILNFLRTKELDLRGVSINVLRHEAEFYGITPL
VRRLLLCEELERSSCGSVLFHGYLPPPGIPSRKINNTVRSADSRNGLNSTEGEARGNGTQPVLSGTGEETVRLGFPVDPRKVLIVAGHHNWIVAAYAHFAVCYRI
KESSGWQQVFTSPYLDWTIERVALNAKVVGGPHGDKDKMVAVASESSIILWSVQDGGSGSEIGVFSLGVPVDALFFIGNQLVATSHTGKVGVWNAVTQHWQVQDV
VPITSYDTAGSFLLLGCNNGSIYYIDMQKFPLRMKDNDLLVTELYHDPSNDAITALSVYLTPKTSVSGNWIEIAYGTSSGAVRVIVQHPETVGSGPQLFQTFTVH
RSPVTKIMLSEKHLVSVCADNNHVRTWTVTRFRGMISTQPGSTPLASFKILSLEETESHGSYSSGNDIGPFGERDDQQVFIQKVVPITNKLFVRLSSTGKRICEI
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MAGGHCGSFPAAAAGSGEIVQLNVGGTRFSTSRQTLMWIPDSFFSSLLSGRISTLRDETGAIFIDRDPAAFAPILNFLRTKELDLRGVSINVLRHEAEFYGITPL
VRRLLLCEELERSSCGSVLFHGYLPPPGIPSRKINNTVRSADSRNGLNSTEGEARGNGTQPVLSGTGEETVRLGFPVDPRKVLIVAGHHNWIVAAYAHFAVCYRI
KESSGWQQVFTSPYLDWTIERVALNAKVVGGPHGDKDKMVAVASESSIILWSVQDGGSGSEIGVFSLGVPVDALFFIGNQLVATSHTGKVGVWNAVTQHWQVQDV
VPITSYDTAGSFLLLGCNNGSIYYIDMQKFPLRMKDNDLLVTELYHDPSNDAITALSVYLTPKTSVSGNWIEIAYGTSSGAVRVIVQHPETVGSGPQLFQTFTVH
RSPVTKIMLSEKHLVSVCADNNHVRTWTVTRFRGMISTQPGSTPLASFKILSLEETESHGSYSSGNDIGPFGERDDQQVFIQKVVPITNKLFVRLSSTGKRICEI
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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 (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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