Evidence Details for CHD7
Basic Information Top
| Gene Symbol: | CHD7 ( FLJ20357,FLJ20361,IS3,KAL5,KIAA1416 ) |
|---|---|
| Gene Full Name: | chromodomain helicase DNA binding protein 7 |
| Band: | 8q12.2 |
| Quick Links | Entrez ID:55636; OMIM: 608765,608892; Uniprot ID:CHD7_HUMAN; ENSEMBL ID: ENSG00000171316; HGNC ID: 20626 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CHD7|55636|nucleotide
ATGGCAGATCCAGGAATGATGAGTCTTTTTGGCGAGGATGGGAATATTTTCAGTGAAGGTCTTGAAGGCCTCGGAGAATGTGGTTACCCGGAAAATCCAGTAAAT
CCTATGGGTCAGCAAATGCCAATAGACCAAGGCTTTGCCTCTTTACAGCCATCCCTTCATCATCCTTCAACTAATCAAAATCAAACAAAGCTGACACATTTTGAT
CACTATAATCAGTATGAACAACAAAAGATGCATCTGATGGATCAGCCGAACAGAATGATGAGCAACACCCCTGGGAACGGACTCGCGTCTCCGCACTCGCAGTAT
CACACCCCTCCCGTTCCTCAGGTGCCCCATGGTGGCAGTGGTGGCGGTCAGATGGGTGTCTACCCTGGCATGCAGAATGAGAGGCATGGGCAATCCTTTGTGGAC
AGCAGCTCCATGTGGGGCCCCAGGGCTGTTCAGGTACCAGACCAGATACGAGCCCCCTACCAGCAGCAGCAGCCACAGCCGCAGCCACCGCAGCCGGCTCCGTCG
GGGCCCCCTGCACAGGGCCACCCTCAGCACATGCAGCAGATGGGCAGCTATATGGCACGTGGGGATTTTTCCATGCAGCAGCATGGTCAGCCACAGCAGAGGATG
AGCCAGTTTTCCCAAGGCCAAGAGGGCCTCAATCAGGGAAATCCTTTTATTGCCACCTCAGGACCTGGCCACTTGTCCCACGTGCCCCAGCAGAGTCCCAGCATG
GCACCTTCCTTGCGTCACTCGGTGCAGCAGTTCCATCACCACCCCTCTACTGCTCTCCATGGAGAATCCGTTGCCCACAGTCCCAGATTCTCCCCGAATCCTCCC
CAACAAGGGGCTGTTAGGCCGCAAACCCTTAACTTTAGTTCTCGGAGCCAGACAGTCCCCTCTCCTACTATAAACAACTCAGGGCAGTATTCTCGATATCCTTAC
AGTAACCTAAATCAGGGATTAGTTAACAATACAGGGATGAATCAAAATTTAGGCCTTACAAATAATACTCCAATGAATCAGTCCGTACCAAGATACCCCAATGCT
GTAGGATTCCCATCAAACAGTGGTCAAGGACTAATGCACCAGCAGCCCATCCACCCCAGTGGCTCACTTAACCAAATGAACACACAAACTATGCATCCTTCACAG
Show »
ATGGCAGATCCAGGAATGATGAGTCTTTTTGGCGAGGATGGGAATATTTTCAGTGAAGGTCTTGAAGGCCTCGGAGAATGTGGTTACCCGGAAAATCCAGTAAAT
CCTATGGGTCAGCAAATGCCAATAGACCAAGGCTTTGCCTCTTTACAGCCATCCCTTCATCATCCTTCAACTAATCAAAATCAAACAAAGCTGACACATTTTGAT
CACTATAATCAGTATGAACAACAAAAGATGCATCTGATGGATCAGCCGAACAGAATGATGAGCAACACCCCTGGGAACGGACTCGCGTCTCCGCACTCGCAGTAT
CACACCCCTCCCGTTCCTCAGGTGCCCCATGGTGGCAGTGGTGGCGGTCAGATGGGTGTCTACCCTGGCATGCAGAATGAGAGGCATGGGCAATCCTTTGTGGAC
AGCAGCTCCATGTGGGGCCCCAGGGCTGTTCAGGTACCAGACCAGATACGAGCCCCCTACCAGCAGCAGCAGCCACAGCCGCAGCCACCGCAGCCGGCTCCGTCG
GGGCCCCCTGCACAGGGCCACCCTCAGCACATGCAGCAGATGGGCAGCTATATGGCACGTGGGGATTTTTCCATGCAGCAGCATGGTCAGCCACAGCAGAGGATG
AGCCAGTTTTCCCAAGGCCAAGAGGGCCTCAATCAGGGAAATCCTTTTATTGCCACCTCAGGACCTGGCCACTTGTCCCACGTGCCCCAGCAGAGTCCCAGCATG
GCACCTTCCTTGCGTCACTCGGTGCAGCAGTTCCATCACCACCCCTCTACTGCTCTCCATGGAGAATCCGTTGCCCACAGTCCCAGATTCTCCCCGAATCCTCCC
CAACAAGGGGCTGTTAGGCCGCAAACCCTTAACTTTAGTTCTCGGAGCCAGACAGTCCCCTCTCCTACTATAAACAACTCAGGGCAGTATTCTCGATATCCTTAC
AGTAACCTAAATCAGGGATTAGTTAACAATACAGGGATGAATCAAAATTTAGGCCTTACAAATAATACTCCAATGAATCAGTCCGTACCAAGATACCCCAATGCT
GTAGGATTCCCATCAAACAGTGGTCAAGGACTAATGCACCAGCAGCCCATCCACCCCAGTGGCTCACTTAACCAAATGAACACACAAACTATGCATCCTTCACAG
Show »
>CHD7|55636|protein
MADPGMMSLFGEDGNIFSEGLEGLGECGYPENPVNPMGQQMPIDQGFASLQPSLHHPSTNQNQTKLTHFDHYNQYEQQKMHLMDQPNRMMSNTPGNGLASPHSQY
HTPPVPQVPHGGSGGGQMGVYPGMQNERHGQSFVDSSSMWGPRAVQVPDQIRAPYQQQQPQPQPPQPAPSGPPAQGHPQHMQQMGSYMARGDFSMQQHGQPQQRM
SQFSQGQEGLNQGNPFIATSGPGHLSHVPQQSPSMAPSLRHSVQQFHHHPSTALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRSQTVPSPTINNSGQYSRYPY
SNLNQGLVNNTGMNQNLGLTNNTPMNQSVPRYPNAVGFPSNSGQGLMHQQPIHPSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGI
PMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQSRPFIGMSSAPRELTGHMRPNGCPGVGLGDPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHH
Show »
MADPGMMSLFGEDGNIFSEGLEGLGECGYPENPVNPMGQQMPIDQGFASLQPSLHHPSTNQNQTKLTHFDHYNQYEQQKMHLMDQPNRMMSNTPGNGLASPHSQY
HTPPVPQVPHGGSGGGQMGVYPGMQNERHGQSFVDSSSMWGPRAVQVPDQIRAPYQQQQPQPQPPQPAPSGPPAQGHPQHMQQMGSYMARGDFSMQQHGQPQQRM
SQFSQGQEGLNQGNPFIATSGPGHLSHVPQQSPSMAPSLRHSVQQFHHHPSTALHGESVAHSPRFSPNPPQQGAVRPQTLNFSSRSQTVPSPTINNSGQYSRYPY
SNLNQGLVNNTGMNQNLGLTNNTPMNQSVPRYPNAVGFPSNSGQGLMHQQPIHPSGSLNQMNTQTMHPSQPQGTYASPPPMSPMKAMSNPAGTPPPQVRPGSAGI
PMEVGSYPNMPHPQPSHQPPGAMGIGQRNMGPRNMQQSRPFIGMSSAPRELTGHMRPNGCPGVGLGDPQAIQERLIPGQQHPGQQPSFQQLPTCPPLQPHPGLHH
Show »
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) | Yes | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (4) | 0 (0) | 1 (1) | 0 (0) | 18 (6) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | AD |
|---|---|
| OMIM | CHARGE syndrome (214800) |
| Description | CHARGE syndrome (coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies); 68% (17/25) have ASD/autistic traits |
| Reference(s) | 15637726; 16359593; 15688419; 19709852; 19664354; 15633180; |
| Level | Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
Genome-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 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 |
|---|---|---|---|---|
| O'Roak BJ, 2012 | 1703 | 209 | 242 | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. |
| C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
| Takata A, 2018 | 262 | 262 | 322 | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di |
| Trujillano D, 2017 | 5 | - | 5 | Clinical exome sequencing: results from 2819 samples reflecting 1000 families. |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| O'Roak BJ, 2012 | USA | Illumina HiSeq 2000 | - | - | ASD | - | - | - | 2446 | - |
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.