Evidence Details for CHD3
Basic Information Top
| Gene Symbol: | CHD3 ( Mi-2a,Mi2-ALPHA,ZFH ) |
|---|---|
| Gene Full Name: | chromodomain helicase DNA binding protein 3 |
| Band: | 17p13.1 |
| Quick Links | Entrez ID:1107; OMIM: 602120; Uniprot ID:CHD3_HUMAN; ENSEMBL ID: ENSG00000170004; HGNC ID: 1918 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CHD3|1107|nucleotide
ATGGCTTCCCCTCTGAGGGACGAGGAGGAGGAGGAGGAGGAGATGGTGGTGTCGGAGGAGGAAGAAGAGGAGGAAGAAGAGGGCGACGAGGAGGAGGAGGAGGAG
GTGGAGGCGGCCGACGAGGACGATGAGGAGGACGACGACGAGGGAGTACTCGGGCGCGGGCCGGGCCACGACCGGGGCCGCGACCGCCACAGCCCCCCCGGCTGC
CACCTCTTCCCGCCGCCGCCGCCGCCGCCGCCACCGCTGCCCCCGCCGCCGCCGCCCCCGCCGCCAGATAAGGATGACATTCGGCTGCTGCCGTCAGCATTGGGT
GTGAAGAAGAGAAAACGAGGACCCAAGAAGCAGAAGGAGAACAAGCCAGGAAAACCCCGAAAACGCAAGAAGCGTGACAGTGAGGAGGAATTTGGTTCTGAGCGA
GATGAGTACCGGGAGAAGTCAGAGAGTGGGGGCAGTGAATATGGAACCGGACCGGGTCGGAAACGAAGAAGGAAGCACCGAGAAAAAAAGGAGAAGAAGACAAAG
CGGCGGAAAAAGGGGGAGGGAGATGGGGGGCAAAAGCAAGTGGAACAGAAGTCATCAGCAACTCTGCTTCTGACCTGGGGCCTGGAGGATGTGGAGCATGTGTTC
TCTGAGGAGGATTACCACACGCTCACCAACTACAAAGCCTTCAGCCAGTTCATGAGGCCCCTAATTGCTAAGAAGAATCCTAAGATCCCAATGTCTAAGATGATG
ACCATCCTTGGGGCCAAATGGAGAGAGTTCAGTGCCAACAACCCCTTCAAGGGGTCAGCAGCTGCTGTGGCGGCGGCAGCGGCAGCAGCAGCAGCAGCTGTAGCT
GAGCAGGTGTCAGCTGCTGTCTCGTCGGCCACCCCCATAGCACCCTCCGGACCCCCCGCCCTTCCACCACCCCCTGCTGCTGATATCCAGCCCCCACCCATCCGA
AGAGCCAAAACCAAAGAGGGCAAAGGTCCAGGCCATAAGAGGCGGAGTAAGAGCCCCCGAGTGCCTGATGGACGCAAGAAGCTTCGGGGAAAGAAAATGGCACCA
CTCAAAATAAAACTAGGGCTTCTGGGTGGCAAGAGGAAGAAAGGAGGCTCGTATGTTTTTCAGAGCGACGAAGGTCCTGAACCAGAGGCTGAGGAATCAGACCTG
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ATGGCTTCCCCTCTGAGGGACGAGGAGGAGGAGGAGGAGGAGATGGTGGTGTCGGAGGAGGAAGAAGAGGAGGAAGAAGAGGGCGACGAGGAGGAGGAGGAGGAG
GTGGAGGCGGCCGACGAGGACGATGAGGAGGACGACGACGAGGGAGTACTCGGGCGCGGGCCGGGCCACGACCGGGGCCGCGACCGCCACAGCCCCCCCGGCTGC
CACCTCTTCCCGCCGCCGCCGCCGCCGCCGCCACCGCTGCCCCCGCCGCCGCCGCCCCCGCCGCCAGATAAGGATGACATTCGGCTGCTGCCGTCAGCATTGGGT
GTGAAGAAGAGAAAACGAGGACCCAAGAAGCAGAAGGAGAACAAGCCAGGAAAACCCCGAAAACGCAAGAAGCGTGACAGTGAGGAGGAATTTGGTTCTGAGCGA
GATGAGTACCGGGAGAAGTCAGAGAGTGGGGGCAGTGAATATGGAACCGGACCGGGTCGGAAACGAAGAAGGAAGCACCGAGAAAAAAAGGAGAAGAAGACAAAG
CGGCGGAAAAAGGGGGAGGGAGATGGGGGGCAAAAGCAAGTGGAACAGAAGTCATCAGCAACTCTGCTTCTGACCTGGGGCCTGGAGGATGTGGAGCATGTGTTC
TCTGAGGAGGATTACCACACGCTCACCAACTACAAAGCCTTCAGCCAGTTCATGAGGCCCCTAATTGCTAAGAAGAATCCTAAGATCCCAATGTCTAAGATGATG
ACCATCCTTGGGGCCAAATGGAGAGAGTTCAGTGCCAACAACCCCTTCAAGGGGTCAGCAGCTGCTGTGGCGGCGGCAGCGGCAGCAGCAGCAGCAGCTGTAGCT
GAGCAGGTGTCAGCTGCTGTCTCGTCGGCCACCCCCATAGCACCCTCCGGACCCCCCGCCCTTCCACCACCCCCTGCTGCTGATATCCAGCCCCCACCCATCCGA
AGAGCCAAAACCAAAGAGGGCAAAGGTCCAGGCCATAAGAGGCGGAGTAAGAGCCCCCGAGTGCCTGATGGACGCAAGAAGCTTCGGGGAAAGAAAATGGCACCA
CTCAAAATAAAACTAGGGCTTCTGGGTGGCAAGAGGAAGAAAGGAGGCTCGTATGTTTTTCAGAGCGACGAAGGTCCTGAACCAGAGGCTGAGGAATCAGACCTG
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>CHD3|1107|protein
MASPLRDEEEEEEEMVVSEEEEEEEEEGDEEEEEEVEAADEDDEEDDDEGVLGRGPGHDRGRDRHSPPGCHLFPPPPPPPPPLPPPPPPPPPDKDDIRLLPSALG
VKKRKRGPKKQKENKPGKPRKRKKRDSEEEFGSERDEYREKSESGGSEYGTGPGRKRRRKHREKKEKKTKRRKKGEGDGGQKQVEQKSSATLLLTWGLEDVEHVF
SEEDYHTLTNYKAFSQFMRPLIAKKNPKIPMSKMMTILGAKWREFSANNPFKGSAAAVAAAAAAAAAAVAEQVSAAVSSATPIAPSGPPALPPPPAADIQPPPIR
RAKTKEGKGPGHKRRSKSPRVPDGRKKLRGKKMAPLKIKLGLLGGKRKKGGSYVFQSDEGPEPEAEESDLDSGSVHSASGRPDGPVRTKKLKRGRPGRKKKKVLG
CPAVAGEEEVDGYETDHQDYCEVCQQGGEIILCDTCPRAYHLVCLDPELDRAPEGKWSCPHCEKEGVQWEAKEEEEEYEEEGEEEGEKEEEDDHMEYCRVCKDGG
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MASPLRDEEEEEEEMVVSEEEEEEEEEGDEEEEEEVEAADEDDEEDDDEGVLGRGPGHDRGRDRHSPPGCHLFPPPPPPPPPLPPPPPPPPPDKDDIRLLPSALG
VKKRKRGPKKQKENKPGKPRKRKKRDSEEEFGSERDEYREKSESGGSEYGTGPGRKRRRKHREKKEKKTKRRKKGEGDGGQKQVEQKSSATLLLTWGLEDVEHVF
SEEDYHTLTNYKAFSQFMRPLIAKKNPKIPMSKMMTILGAKWREFSANNPFKGSAAAVAAAAAAAAAAVAEQVSAAVSSATPIAPSGPPALPPPPAADIQPPPIR
RAKTKEGKGPGHKRRSKSPRVPDGRKKLRGKKMAPLKIKLGLLGGKRKKGGSYVFQSDEGPEPEAEESDLDSGSVHSASGRPDGPVRTKKLKRGRPGRKKKKVLG
CPAVAGEEEVDGYETDHQDYCEVCQQGGEIILCDTCPRAYHLVCLDPELDRAPEGKWSCPHCEKEGVQWEAKEEEEEYEEEGEEEGEKEEEDDHMEYCRVCKDGG
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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) | 1 (1) | 0 (0) | 0 (0) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 12 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Lamb, 2005 | - | microsatellite-based genomic screen |  | | autism | 207 | - | 207 | - | 420 | - | - |
Low 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 |
|---|---|---|---|---|
| O'Roak BJ, 2012 | 1703 | 209 | 242 | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. |
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| Yuen RK, 2016 | 200 | - | 301 | Genome-wide characteristics of de novo mutations in autism. |
NGS Mosaic SNV Studies TopNGS Other Studies Top 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.