Evidence Details for CHD6
Basic Information Top
| Gene Symbol: | CHD6 ( CHD5,KIAA1335,RIGB ) |
|---|---|
| Gene Full Name: | chromodomain helicase DNA binding protein 6 |
| Band: | 20q12 |
| Quick Links | Entrez ID:84181; OMIM: NA; Uniprot ID:CHD6_HUMAN; ENSEMBL ID: ENSG00000124177; HGNC ID: 19057 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CHD6|84181|nucleotide
ATGAAAATGAAAATACAGAAAAAAGAGAAGCAGTTGTCAAATTTAAAAGTTTTGAATCACTCCCCAATGTCTGATGCCTCTGTCAATTTTGACTACAAATCTCCA
TCCCCATTTGACTGCAGCACTGATCAAGAAGAGAAAATTGAAGATGTTGCTAGTCACTGTCTGCCTCAGAAGGACCTGTATACTGCTGAAGAGGAAGCTGCTACC
CTTTTTCCTAGGAAAATGACATCCCATAATGGGATGGAGGACAGTGGAGGAGGAGGTACTGGAGTGAAGAAGAAACGGAAGAAAAAGGAGCCAGGAGACCAAGAG
GGTGCAGCAAAGGGAAGCAAGGACAGAGAGCCCAAGCCAAAGAGGAAACGAGAACCGAAAGAGCCAAAGGAACCCAGAAAGGCCAAGGAGCCGAAGAAGGCCAAG
GAGCACAAGGAGCCGAAGCAAAAAGATGGGGCAAAGAAGGCACGGAAGCCCCGGGAGGCCTCGGGCACCAAGGAGGCCAAAGAGAAGAGGAGCTGCACTGACTCT
GCAGCCAGGACGAAGTCCAGGAAGGCCAGCAAGGAGCAAGGACCAACCCCAGTGGAGAAAAAGAAGAAAGGAAAAAGGAAAAGTGAAACTACAGTGGAGAGTTTA
GAGCTGGATCAGGGCCTGACGAACCCATCTCTGCGGAGTCCTGAGGAGTCCACTGAGTCTACAGACAGCCAGAAACGACGCTCGGGAAGGCAAGTAAAGCGCAGA
AAATACAATGAGGACCTGGACTTCAAAGTGGTGGATGATGATGGGGAAACAATTGCTGTTCTTGGAGCTGGTCGAACATCTGCACTCTCAGCCTCTACACTGGCC
TGGCAGGCGGAGGAGCCTCCAGAAGATGATGCAAACATCATTGAGAAGATCCTGGCATCTAAGACTGTCCAGGAGGTTCACCCAGGAGAACCTCCGTTCGACTTG
GAGCTGTTCTACGTTAAGTATAGAAATTTTTCCTACTTACATTGTAAATGGGCCACAATGGAAGAGCTCGAAAAGGATCCTCGCATCGCACAGAAGATCAAGCGA
TTTAGGAATAAACAAGCCCAGATGAAGCACATTTTTACGGAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCAC
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ATGAAAATGAAAATACAGAAAAAAGAGAAGCAGTTGTCAAATTTAAAAGTTTTGAATCACTCCCCAATGTCTGATGCCTCTGTCAATTTTGACTACAAATCTCCA
TCCCCATTTGACTGCAGCACTGATCAAGAAGAGAAAATTGAAGATGTTGCTAGTCACTGTCTGCCTCAGAAGGACCTGTATACTGCTGAAGAGGAAGCTGCTACC
CTTTTTCCTAGGAAAATGACATCCCATAATGGGATGGAGGACAGTGGAGGAGGAGGTACTGGAGTGAAGAAGAAACGGAAGAAAAAGGAGCCAGGAGACCAAGAG
GGTGCAGCAAAGGGAAGCAAGGACAGAGAGCCCAAGCCAAAGAGGAAACGAGAACCGAAAGAGCCAAAGGAACCCAGAAAGGCCAAGGAGCCGAAGAAGGCCAAG
GAGCACAAGGAGCCGAAGCAAAAAGATGGGGCAAAGAAGGCACGGAAGCCCCGGGAGGCCTCGGGCACCAAGGAGGCCAAAGAGAAGAGGAGCTGCACTGACTCT
GCAGCCAGGACGAAGTCCAGGAAGGCCAGCAAGGAGCAAGGACCAACCCCAGTGGAGAAAAAGAAGAAAGGAAAAAGGAAAAGTGAAACTACAGTGGAGAGTTTA
GAGCTGGATCAGGGCCTGACGAACCCATCTCTGCGGAGTCCTGAGGAGTCCACTGAGTCTACAGACAGCCAGAAACGACGCTCGGGAAGGCAAGTAAAGCGCAGA
AAATACAATGAGGACCTGGACTTCAAAGTGGTGGATGATGATGGGGAAACAATTGCTGTTCTTGGAGCTGGTCGAACATCTGCACTCTCAGCCTCTACACTGGCC
TGGCAGGCGGAGGAGCCTCCAGAAGATGATGCAAACATCATTGAGAAGATCCTGGCATCTAAGACTGTCCAGGAGGTTCACCCAGGAGAACCTCCGTTCGACTTG
GAGCTGTTCTACGTTAAGTATAGAAATTTTTCCTACTTACATTGTAAATGGGCCACAATGGAAGAGCTCGAAAAGGATCCTCGCATCGCACAGAAGATCAAGCGA
TTTAGGAATAAACAAGCCCAGATGAAGCACATTTTTACGGAGCCTGATGAAGACTTGTTCAATCCAGACTATGTAGAAGTTGATCGCATCTTGGAGGTGGCCCAC
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>CHD6|84181|protein
MKMKIQKKEKQLSNLKVLNHSPMSDASVNFDYKSPSPFDCSTDQEEKIEDVASHCLPQKDLYTAEEEAATLFPRKMTSHNGMEDSGGGGTGVKKKRKKKEPGDQE
GAAKGSKDREPKPKRKREPKEPKEPRKAKEPKKAKEHKEPKQKDGAKKARKPREASGTKEAKEKRSCTDSAARTKSRKASKEQGPTPVEKKKKGKRKSETTVESL
ELDQGLTNPSLRSPEESTESTDSQKRRSGRQVKRRKYNEDLDFKVVDDDGETIAVLGAGRTSALSASTLAWQAEEPPEDDANIIEKILASKTVQEVHPGEPPFDL
ELFYVKYRNFSYLHCKWATMEELEKDPRIAQKIKRFRNKQAQMKHIFTEPDEDLFNPDYVEVDRILEVAHTKDAETGEEVTHYLVKWCSLPYEESTWELEEDVDP
AKVKEFESLQVLPEIKHVERPASDSWQKLEKSREYKNSNQLREYQLEGMNWLLFNWYNRKNCILADEMGLGKTIQSITFLSEIFLRGIHGPFLIIAPLSTITNWE
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MKMKIQKKEKQLSNLKVLNHSPMSDASVNFDYKSPSPFDCSTDQEEKIEDVASHCLPQKDLYTAEEEAATLFPRKMTSHNGMEDSGGGGTGVKKKRKKKEPGDQE
GAAKGSKDREPKPKRKREPKEPKEPRKAKEPKKAKEHKEPKQKDGAKKARKPREASGTKEAKEKRSCTDSAARTKSRKASKEQGPTPVEKKKKGKRKSETTVESL
ELDQGLTNPSLRSPEESTESTDSQKRRSGRQVKRRKYNEDLDFKVVDDDGETIAVLGAGRTSALSASTLAWQAEEPPEDDANIIEKILASKTVQEVHPGEPPFDL
ELFYVKYRNFSYLHCKWATMEELEKDPRIAQKIKRFRNKQAQMKHIFTEPDEDLFNPDYVEVDRILEVAHTKDAETGEEVTHYLVKWCSLPYEESTWELEEDVDP
AKVKEFESLQVLPEIKHVERPASDSWQKLEKSREYKNSNQLREYQLEGMNWLLFNWYNRKNCILADEMGLGKTIQSITFLSEIFLRGIHGPFLIIAPLSTITNWE
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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 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 12 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2008 | - | SNP-based genomic screen | | | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
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 |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
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.