Evidence Details for DOCK8
Basic Information Top
| Gene Symbol: | DOCK8 ( FLJ00026,FLJ00152,FLJ00346,MRD2,ZIR8 ) |
|---|---|
| Gene Full Name: | dedicator of cytokinesis 8 |
| Band: | 9p24.3 |
| Quick Links | Entrez ID:81704; OMIM: 611432; Uniprot ID:DOCK8_HUMAN; ENSEMBL ID: ENSG00000107099; HGNC ID: 19191 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>DOCK8|81704|nucleotide
ATGACACACCTGAACAGCCTGGATGTGCAGCTTGCCCAGGAGCTCGGGGACTTCACTGATGACGACTTGGACGTGGTGTTCACGCCAAAGGAATGTAGGACTTTG
CAGCCCTCTTTGCCGGAGGAAGGGGTTGAACTGGACCCTCATGTCAGGGACTGTGTTCAGACCTACATCCGTGAGTGGCTAATCGTGAACCGGAAAAACCAAGGA
AGTCCAGAAATCTGTGGCTTTAAAAAGACTGGATCTCGAAAAGATTTTCACAAGACGCTTCCGAAACAGACGTTTGAGTCGGAAACCTTGGAGTGCAGTGAACCC
GCTGCTCAGGCAGGCCCCCGCCACTTAAACGTGCTGTGCGACGTGTCTGGGAAAGGCCCCGTCACTGCCTGTGACTTTGACCTCCGCAGCCTGCAGCCTGACAAG
CGGCTAGAAAACCTCCTGCAGCAAGTGAGTGCCGAGGACTTTGAGAAGCAGAACGAGGAGGCCCGGAGGACCAATAGGCAGGCCGAGCTCTTTGCCCTTTACCCA
TCAGTGGACGAGGAGGATGCTGTGGAAATACGTCCAGTACCAGAATGTCCCAAGGAACACCTGGGCAACAGAATATTGGTCAAGTTGCTGACCTTGAAGTTCGAG
ATTGAAATTGAGCCCCTGTTTGCCAGCATTGCCCTCTACGATGTTAAAGAAAGGAAAAAGATCTCAGAAAATTTTCACTGTGACCTGAACTCTGACCAGTTCAAA
GGATTTCTGCGAGCTCACACGCCTTCAGTGGCCGCATCAAGTCAGGCGAGATCTGCAGTCTTCTCAGTCACCTACCCGTCCTCAGACATCTACCTGGTAGTCAAG
ATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGAGTAAAGAAAAGATTGAAAAACTA
AAACTCCAAGCTGAATCCTTCTGCCAGCGTTTGGGGAAATACCGGATGCCCTTTGCCTGGGCACCCATAAGCTTATCAAGCTTCTTCAATGTCTCCACCCTTGAG
AGGGAGGTAACTGATGTGGACTCTGTGGTTGGGAGAAGCTCAGTGGGTGAACGGAGGACATTGGCCCAATCTAGAAGGCTTTCTGAAAGAGCCCTCTCCTTGGAG
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ATGACACACCTGAACAGCCTGGATGTGCAGCTTGCCCAGGAGCTCGGGGACTTCACTGATGACGACTTGGACGTGGTGTTCACGCCAAAGGAATGTAGGACTTTG
CAGCCCTCTTTGCCGGAGGAAGGGGTTGAACTGGACCCTCATGTCAGGGACTGTGTTCAGACCTACATCCGTGAGTGGCTAATCGTGAACCGGAAAAACCAAGGA
AGTCCAGAAATCTGTGGCTTTAAAAAGACTGGATCTCGAAAAGATTTTCACAAGACGCTTCCGAAACAGACGTTTGAGTCGGAAACCTTGGAGTGCAGTGAACCC
GCTGCTCAGGCAGGCCCCCGCCACTTAAACGTGCTGTGCGACGTGTCTGGGAAAGGCCCCGTCACTGCCTGTGACTTTGACCTCCGCAGCCTGCAGCCTGACAAG
CGGCTAGAAAACCTCCTGCAGCAAGTGAGTGCCGAGGACTTTGAGAAGCAGAACGAGGAGGCCCGGAGGACCAATAGGCAGGCCGAGCTCTTTGCCCTTTACCCA
TCAGTGGACGAGGAGGATGCTGTGGAAATACGTCCAGTACCAGAATGTCCCAAGGAACACCTGGGCAACAGAATATTGGTCAAGTTGCTGACCTTGAAGTTCGAG
ATTGAAATTGAGCCCCTGTTTGCCAGCATTGCCCTCTACGATGTTAAAGAAAGGAAAAAGATCTCAGAAAATTTTCACTGTGACCTGAACTCTGACCAGTTCAAA
GGATTTCTGCGAGCTCACACGCCTTCAGTGGCCGCATCAAGTCAGGCGAGATCTGCAGTCTTCTCAGTCACCTACCCGTCCTCAGACATCTACCTGGTAGTCAAG
ATTGAAAAAGTCCTGCAGCAGGGAGAGATTGGAGACTGTGCAGAGCCCTACACGGTTATCAAAGAAAGTGATGGTGGAAAGAGTAAAGAAAAGATTGAAAAACTA
AAACTCCAAGCTGAATCCTTCTGCCAGCGTTTGGGGAAATACCGGATGCCCTTTGCCTGGGCACCCATAAGCTTATCAAGCTTCTTCAATGTCTCCACCCTTGAG
AGGGAGGTAACTGATGTGGACTCTGTGGTTGGGAGAAGCTCAGTGGGTGAACGGAGGACATTGGCCCAATCTAGAAGGCTTTCTGAAAGAGCCCTCTCCTTGGAG
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>DOCK8|81704|protein
MTHLNSLDVQLAQELGDFTDDDLDVVFTPKECRTLQPSLPEEGVELDPHVRDCVQTYIREWLIVNRKNQGSPEICGFKKTGSRKDFHKTLPKQTFESETLECSEP
AAQAGPRHLNVLCDVSGKGPVTACDFDLRSLQPDKRLENLLQQVSAEDFEKQNEEARRTNRQAELFALYPSVDEEDAVEIRPVPECPKEHLGNRILVKLLTLKFE
IEIEPLFASIALYDVKERKKISENFHCDLNSDQFKGFLRAHTPSVAASSQARSAVFSVTYPSSDIYLVVKIEKVLQQGEIGDCAEPYTVIKESDGGKSKEKIEKL
KLQAESFCQRLGKYRMPFAWAPISLSSFFNVSTLEREVTDVDSVVGRSSVGERRTLAQSRRLSERALSLEENGVGSNFKTSTLSVSSFFKQEGDRLSDEDLFKFL
ADYKRSSSLQRRVKSIPGLLRLEISTAPEIINCCLTPEMLPVKPFPENRTRPHKEILEFPTREVYVPHTVYRNLLYVYPQRLNFVNKLASARNITIKIQFMCGED
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MTHLNSLDVQLAQELGDFTDDDLDVVFTPKECRTLQPSLPEEGVELDPHVRDCVQTYIREWLIVNRKNQGSPEICGFKKTGSRKDFHKTLPKQTFESETLECSEP
AAQAGPRHLNVLCDVSGKGPVTACDFDLRSLQPDKRLENLLQQVSAEDFEKQNEEARRTNRQAELFALYPSVDEEDAVEIRPVPECPKEHLGNRILVKLLTLKFE
IEIEPLFASIALYDVKERKKISENFHCDLNSDQFKGFLRAHTPSVAASSQARSAVFSVTYPSSDIYLVVKIEKVLQQGEIGDCAEPYTVIKESDGGKSKEKIEKL
KLQAESFCQRLGKYRMPFAWAPISLSSFFNVSTLEREVTDVDSVVGRSSVGERRTLAQSRRLSERALSLEENGVGSNFKTSTLSVSSFFKQEGDRLSDEDLFKFL
ADYKRSSSLQRRVKSIPGLLRLEISTAPEIINCCLTPEMLPVKPFPENRTRPHKEILEFPTREVYVPHTVYRNLLYVYPQRLNFVNKLASARNITIKIQFMCGED
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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 (5) | 1 (1) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 1 (2) | 0 (0) | 10 (11) |
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 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage 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 |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| Wang T, 2016 | 1543 | 1045 | 54 | De novo genic mutations among a Chinese autism spectrum disorder cohort |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 | | | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
| Wang T, 2016 | China | Illumina HiSeq 2000 | | | ASD | 1045 | - | - | 1543 | PCR and Sanger sequencing |
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.