Evidence Details for CHD1L
Basic Information Top
| Gene Symbol: | CHD1L ( ALC1,CHDL,FLJ22530 ) |
|---|---|
| Gene Full Name: | chromodomain helicase DNA binding protein 1-like |
| Band: | 1q21.1 |
| Quick Links | Entrez ID:9557; OMIM: 613039; Uniprot ID:CHD1L_HUMAN; ENSEMBL ID: ENSG00000131778; HGNC ID: 1916 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CHD1L|9557|nucleotide
ATGGAGCGCGCGGGCGCTACTAGCCGCGGGGGCCAAGCGCCTGGCTTCTTACTGCGGCTTCATACTGAGGGCCGAGCCGAGGCGGCGCGGGTGCAGGAGCAGGAC
TTACGGCAGTGGGGGCTGACAGGGATTCACCTACGCTCTTACCAGCTGGAGGGAGTAAACTGGCTCGCCCAGCGCTTCCATTGTCAGAATGGCTGTATCCTGGGA
GATGAGATGGGCCTGGGGAAGACCTGCCAGACTATTGCTCTCTTCATTTATTTGGCAGGAAGATTAAATGATGAAGGGCCATTTCTGATTCTTTGTCCCTTGTCT
GTTTTGAGCAACTGGAAAGAAGAAATGCAGAGATTTGCTCCAGGTCTTTCCTGTGTAACATATGCAGGCGACAAGGAGGAAAGAGCCTGCCTTCAGCAAGACCTG
AAACAGGAGTCACGTTTTCATGTGCTACTGACTACCTATGAGATTTGCTTGAAAGATGCATCATTTCTAAAATCATTCCCTTGGAGTGTTCTTGTTGTGGATGAA
GCTCACAGGTTGAAAAACCAAAGCTCCCTGCTGCATAAGACCTTGTCAGAGTTCTCAGTAGTCTTCAGTCTCCTGTTGACCGGAACTCCCATCCAGAACAGCCTC
CAAGAGCTCTACTCCCTCCTCAGTTTTGTGGAGCCTGATCTCTTTTCCAAGGAAGAGGTGGGAGATTTTATTCAACGCTACCAGGATATTGAGAAAGAATCTGAG
TCAGCAAGTGAACTGCACAAACTCTTGCAGCCATTTCTGCTGAGGCGAGTGAAAGCTGAGGTAGCTACAGAGCTTCCCAAGAAGACAGAAGTAGTGATATACCAT
GGCATGTCAGCATTGCAGAAGAAATACTACAAGGCCATTTTGATGAAAGACCTAGATGCATTTGAAAATGAGACGGCAAAGAAAGTTAAACTACAGAACATTTTG
TCCCAGCTTCGAAAGTGTGTGGATCACCCATATTTGTTTGATGGTGTGGAGCCGGAGCCTTTTGAAGTTGGAGACCACCTGACTGAGGCTAGTGGGAAGCTTCAC
CTGCTGGATAAGCTACTAGCATTCCTGTATTCTGGGGGCCATCGGGTTTTACTTTTCTCCCAAATGACCCAGATGTTGGATATTCTCCAAGACTATATGGATTAC
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ATGGAGCGCGCGGGCGCTACTAGCCGCGGGGGCCAAGCGCCTGGCTTCTTACTGCGGCTTCATACTGAGGGCCGAGCCGAGGCGGCGCGGGTGCAGGAGCAGGAC
TTACGGCAGTGGGGGCTGACAGGGATTCACCTACGCTCTTACCAGCTGGAGGGAGTAAACTGGCTCGCCCAGCGCTTCCATTGTCAGAATGGCTGTATCCTGGGA
GATGAGATGGGCCTGGGGAAGACCTGCCAGACTATTGCTCTCTTCATTTATTTGGCAGGAAGATTAAATGATGAAGGGCCATTTCTGATTCTTTGTCCCTTGTCT
GTTTTGAGCAACTGGAAAGAAGAAATGCAGAGATTTGCTCCAGGTCTTTCCTGTGTAACATATGCAGGCGACAAGGAGGAAAGAGCCTGCCTTCAGCAAGACCTG
AAACAGGAGTCACGTTTTCATGTGCTACTGACTACCTATGAGATTTGCTTGAAAGATGCATCATTTCTAAAATCATTCCCTTGGAGTGTTCTTGTTGTGGATGAA
GCTCACAGGTTGAAAAACCAAAGCTCCCTGCTGCATAAGACCTTGTCAGAGTTCTCAGTAGTCTTCAGTCTCCTGTTGACCGGAACTCCCATCCAGAACAGCCTC
CAAGAGCTCTACTCCCTCCTCAGTTTTGTGGAGCCTGATCTCTTTTCCAAGGAAGAGGTGGGAGATTTTATTCAACGCTACCAGGATATTGAGAAAGAATCTGAG
TCAGCAAGTGAACTGCACAAACTCTTGCAGCCATTTCTGCTGAGGCGAGTGAAAGCTGAGGTAGCTACAGAGCTTCCCAAGAAGACAGAAGTAGTGATATACCAT
GGCATGTCAGCATTGCAGAAGAAATACTACAAGGCCATTTTGATGAAAGACCTAGATGCATTTGAAAATGAGACGGCAAAGAAAGTTAAACTACAGAACATTTTG
TCCCAGCTTCGAAAGTGTGTGGATCACCCATATTTGTTTGATGGTGTGGAGCCGGAGCCTTTTGAAGTTGGAGACCACCTGACTGAGGCTAGTGGGAAGCTTCAC
CTGCTGGATAAGCTACTAGCATTCCTGTATTCTGGGGGCCATCGGGTTTTACTTTTCTCCCAAATGACCCAGATGTTGGATATTCTCCAAGACTATATGGATTAC
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>CHD1L|9557|protein
MERAGATSRGGQAPGFLLRLHTEGRAEAARVQEQDLRQWGLTGIHLRSYQLEGVNWLAQRFHCQNGCILGDEMGLGKTCQTIALFIYLAGRLNDEGPFLILCPLS
VLSNWKEEMQRFAPGLSCVTYAGDKEERACLQQDLKQESRFHVLLTTYEICLKDASFLKSFPWSVLVVDEAHRLKNQSSLLHKTLSEFSVVFSLLLTGTPIQNSL
QELYSLLSFVEPDLFSKEEVGDFIQRYQDIEKESESASELHKLLQPFLLRRVKAEVATELPKKTEVVIYHGMSALQKKYYKAILMKDLDAFENETAKKVKLQNIL
SQLRKCVDHPYLFDGVEPEPFEVGDHLTEASGKLHLLDKLLAFLYSGGHRVLLFSQMTQMLDILQDYMDYRGYSYERVDGSVRGEERHLAIKNFGQQPIFVFLLS
TRAGGVGMNLTAADTVIFVDSDFNPQNDLQAAARAHRIGQNKSVKVIRLIGRDTVEEIVYRKAASKLQLTNMIIEGGHFTLGAQKPAADADLQLSEILKFGLDKL
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MERAGATSRGGQAPGFLLRLHTEGRAEAARVQEQDLRQWGLTGIHLRSYQLEGVNWLAQRFHCQNGCILGDEMGLGKTCQTIALFIYLAGRLNDEGPFLILCPLS
VLSNWKEEMQRFAPGLSCVTYAGDKEERACLQQDLKQESRFHVLLTTYEICLKDASFLKSFPWSVLVVDEAHRLKNQSSLLHKTLSEFSVVFSLLLTGTPIQNSL
QELYSLLSFVEPDLFSKEEVGDFIQRYQDIEKESESASELHKLLQPFLLRRVKAEVATELPKKTEVVIYHGMSALQKKYYKAILMKDLDAFENETAKKVKLQNIL
SQLRKCVDHPYLFDGVEPEPFEVGDHLTEASGKLHLLDKLLAFLYSGGHRVLLFSQMTQMLDILQDYMDYRGYSYERVDGSVRGEERHLAIKNFGQQPIFVFLLS
TRAGGVGMNLTAADTVIFVDSDFNPQNDLQAAARAHRIGQNKSVKVIRLIGRDTVEEIVYRKAASKLQLTNMIIEGGHFTLGAQKPAADADLQLSEILKFGLDKL
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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) | 1 (6) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 2 (8) |
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 Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
| Gregory, 2009 | USA | aCGH | | | ASD | - | - | - | - | 119 | 54 | 173 |
| Bucan, 2009 | USA | SNP microarray | | | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Krupp DR, 2017 | - | 2264 | 247 | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
NGS 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.