Evidence Details for DCTN5
Basic Information Top
| Gene Symbol: | DCTN5 ( MGC3248,p25 ) |
|---|---|
| Gene Full Name: | dynactin 5 (p25) |
| Band: | 16p12.2 |
| Quick Links | Entrez ID:84516; OMIM: 612962; Uniprot ID:DCTN5_HUMAN; ENSEMBL ID: ENSG00000166847; HGNC ID: 24594 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>DCTN5|84516|nucleotide
ATGGAGTTGGGCGAGCTGCTCTACAACAAGTCTGAGTACATCGAGACGGCATCTGGGAACAAAGTCAGTCGCCAGTCAGTGTTGTGTGGAAGCCAGAACATCGTT
CTCAATGGCAAGAACTTTGTCATTTCTGTTTTCCTGAGCCCATATATCAGATGTCACAGTGCCTGCAGGGATAGAAAGAGATCAGATGAGTCAGTAAGACTGAGT
GTGAACAATAGAGAGTGGTGGGGCCTGGTGAATTGGAGAATGTGA
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ATGGAGTTGGGCGAGCTGCTCTACAACAAGTCTGAGTACATCGAGACGGCATCTGGGAACAAAGTCAGTCGCCAGTCAGTGTTGTGTGGAAGCCAGAACATCGTT
CTCAATGGCAAGAACTTTGTCATTTCTGTTTTCCTGAGCCCATATATCAGATGTCACAGTGCCTGCAGGGATAGAAAGAGATCAGATGAGTCAGTAAGACTGAGT
GTGAACAATAGAGAGTGGTGGGGCCTGGTGAATTGGAGAATGTGA
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>DCTN5|84516|protein
MELGELLYNKSEYIETASGNKVSRQSVLCGSQNIVLNGKNFVISVFLSPYIRCHSACRDRKRSDESVRLSVNNREWWGLVNWRM
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MELGELLYNKSEYIETASGNKVSRQSVLCGSQNIVLNGKNFVISVFLSPYIRCHSACRDRKRSDESVRLSVNNREWWGLVNWRM
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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) | 0 (0) | 0 (1) | 1 (1) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 1 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Philippi, 2005_1 | AGRE | SNPlex, ABI 3730, the GeneMapper software(Applied Biosystems, Foster City) | 116 | - (-) |  | | AD | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gregg, 2008_2 | mixed | lymphoblastoid cell lines | 17 (11.76%) | | | autism with early onset | autism | 12 (25.00%) |
1.622 | Up | 0.0182 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| O'Roak BJ, 2011 | - | 20 | 21 | Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. |
| 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.