Evidence Details for JMJD1C
Basic Information Top
| Gene Symbol: | JMJD1C ( DKFZp761F0118,FLJ14374,KIAA1380,RP11-10C13.2,TRIP8 ) |
|---|---|
| Gene Full Name: | jumonji domain containing 1C |
| Band: | 10q21.3 |
| Quick Links | Entrez ID:221037; OMIM: 604503; Uniprot ID:JHD2C_HUMAN; ENSEMBL ID: ENSG00000171988; HGNC ID: 12313 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>JMJD1C|221037|nucleotide
ATGATCGTTATGAATGATCAGGTACTAGAACCACAGAATGTCGATCCTTCTATGGTTCAAATGACCTTTCTAGATGATGTTGTTCACTCTTTGTTAAAAGGTGAA
AATATTGGCATTACATCACGACGCAGGTCTCGTGCCAATCAAAACGTCAACGCTGTTCACAGCCATTATACACGTGCCCAAGCAAATAGTCCCAGACCAGCAATG
AACTCCCAAGCTGCTGTACCAAAACAGAATACACACCAGCAACAGCAACAAAGAAGTATCCGTCCAAATAAGAGGAAGGGCTCAGATAGCAGTATACCAGATGAA
GAGAAGATGAAGGAGGAAAAATATGATTATATATCACGAGGAGAAAATCCTAAAGGTAAAAACAAACACTTGATGAATAAAAGAAGGAAACCTGAGGAGGATGAA
AAGAAACTAAATATGAAAAGACTTCGAACTGACAATGTTTCAGACTTTTCTGAGAGCAGTGACTCAGAAAATTCAAATAAGAGAATAATAGATAATTCCTCAGAA
CAGAAGCCAGAGAATGAATTGAAAAATAAAAATACTTCAAAAATAAATGGAGAAGAAGGAAAACCCCATAATAATGAGAAGGCAGGAGAAGAGACCCTAAAAAAT
AGCCAGCCTCCCTGGGATCAAATACAGGAAGATAAAAAACATGAAGAAGCAGAGAAGCGGAAGTCTGTTGACACTCAGCTTCAAGAAGATATGATTATTCATTCG
TCAGAACAGTCCACAGTTTCTGATCATAATTCTAATGATTTACTTCCTCAGGAATGCAATATGGATAAAACACATACCATGGAATTGCTACCAAAGGAGAAGTTT
GTATCCAGACCACCCACACCAAAATGTGTTATTGATATTACAAATGACACTAATTTAGAAAAGGTGGCTCAGGAAAACTCAAGTACCTTTGGCCTTCAGACACTT
CAGAAAATGGATCCTAATGTTAGTGATTCAAAACACTCTATTGCAAATGCAAAATTCTTGGAAACAGCAAAAAAAGATTCTGACCAGAGCTGGGTCAGTGATGTA
GTTAAAGTGGATCTAACCCAATCAAGTGTTACAAATGCTTCTTCAGGAAATGATCACTTGAACATGGAAAAAGAGAAGTATGTCTCTTACATTTCTCCTTTAAGT
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ATGATCGTTATGAATGATCAGGTACTAGAACCACAGAATGTCGATCCTTCTATGGTTCAAATGACCTTTCTAGATGATGTTGTTCACTCTTTGTTAAAAGGTGAA
AATATTGGCATTACATCACGACGCAGGTCTCGTGCCAATCAAAACGTCAACGCTGTTCACAGCCATTATACACGTGCCCAAGCAAATAGTCCCAGACCAGCAATG
AACTCCCAAGCTGCTGTACCAAAACAGAATACACACCAGCAACAGCAACAAAGAAGTATCCGTCCAAATAAGAGGAAGGGCTCAGATAGCAGTATACCAGATGAA
GAGAAGATGAAGGAGGAAAAATATGATTATATATCACGAGGAGAAAATCCTAAAGGTAAAAACAAACACTTGATGAATAAAAGAAGGAAACCTGAGGAGGATGAA
AAGAAACTAAATATGAAAAGACTTCGAACTGACAATGTTTCAGACTTTTCTGAGAGCAGTGACTCAGAAAATTCAAATAAGAGAATAATAGATAATTCCTCAGAA
CAGAAGCCAGAGAATGAATTGAAAAATAAAAATACTTCAAAAATAAATGGAGAAGAAGGAAAACCCCATAATAATGAGAAGGCAGGAGAAGAGACCCTAAAAAAT
AGCCAGCCTCCCTGGGATCAAATACAGGAAGATAAAAAACATGAAGAAGCAGAGAAGCGGAAGTCTGTTGACACTCAGCTTCAAGAAGATATGATTATTCATTCG
TCAGAACAGTCCACAGTTTCTGATCATAATTCTAATGATTTACTTCCTCAGGAATGCAATATGGATAAAACACATACCATGGAATTGCTACCAAAGGAGAAGTTT
GTATCCAGACCACCCACACCAAAATGTGTTATTGATATTACAAATGACACTAATTTAGAAAAGGTGGCTCAGGAAAACTCAAGTACCTTTGGCCTTCAGACACTT
CAGAAAATGGATCCTAATGTTAGTGATTCAAAACACTCTATTGCAAATGCAAAATTCTTGGAAACAGCAAAAAAAGATTCTGACCAGAGCTGGGTCAGTGATGTA
GTTAAAGTGGATCTAACCCAATCAAGTGTTACAAATGCTTCTTCAGGAAATGATCACTTGAACATGGAAAAAGAGAAGTATGTCTCTTACATTTCTCCTTTAAGT
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>JMJD1C|221037|protein
MIVMNDQVLEPQNVDPSMVQMTFLDDVVHSLLKGENIGITSRRRSRANQNVNAVHSHYTRAQANSPRPAMNSQAAVPKQNTHQQQQQRSIRPNKRKGSDSSIPDE
EKMKEEKYDYISRGENPKGKNKHLMNKRRKPEEDEKKLNMKRLRTDNVSDFSESSDSENSNKRIIDNSSEQKPENELKNKNTSKINGEEGKPHNNEKAGEETLKN
SQPPWDQIQEDKKHEEAEKRKSVDTQLQEDMIIHSSEQSTVSDHNSNDLLPQECNMDKTHTMELLPKEKFVSRPPTPKCVIDITNDTNLEKVAQENSSTFGLQTL
QKMDPNVSDSKHSIANAKFLETAKKDSDQSWVSDVVKVDLTQSSVTNASSGNDHLNMEKEKYVSYISPLSAVSVMEDKLHKRSPPPETIKSKLNTSVDTHKIKSS
PSPEVVKPKITHSPDSVKSKATYVNSQATGERRLANKIEHELSRCSFHPIPTRSSTLETTKSPLIIDKNEHFTVYRDPALIGSETGANHISPFLSQHPFPLHSSS
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MIVMNDQVLEPQNVDPSMVQMTFLDDVVHSLLKGENIGITSRRRSRANQNVNAVHSHYTRAQANSPRPAMNSQAAVPKQNTHQQQQQRSIRPNKRKGSDSSIPDE
EKMKEEKYDYISRGENPKGKNKHLMNKRRKPEEDEKKLNMKRLRTDNVSDFSESSDSENSNKRIIDNSSEQKPENELKNKNTSKINGEEGKPHNNEKAGEETLKN
SQPPWDQIQEDKKHEEAEKRKSVDTQLQEDMIIHSSEQSTVSDHNSNDLLPQECNMDKTHTMELLPKEKFVSRPPTPKCVIDITNDTNLEKVAQENSSTFGLQTL
QKMDPNVSDSKHSIANAKFLETAKKDSDQSWVSDVVKVDLTQSSVTNASSGNDHLNMEKEKYVSYISPLSAVSVMEDKLHKRSPPPETIKSKLNTSVDTHKIKSS
PSPEVVKPKITHSPDSVKSKATYVNSQATGERRLANKIEHELSRCSFHPIPTRSSTLETTKSPLIIDKNEHFTVYRDPALIGSETGANHISPFLSQHPFPLHSSS
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Evidence summary TopClick 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 (3) | 0 (0) | 0 (1) | 2 (2) | 20 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS 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 |
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Bowling KM, 2017 | - | - | - | - | ASD | - | - | - | 8 | - |
Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.