Evidence Detail for KRT6A
Basic Information Top
| Gene Symbol: | KRT6A ( CK6A,CK6C,CK6D,K6A,K6C,K6D,KRT6C,KRT6D ) |
|---|---|
| Gene Full Name: | keratin 6A |
| Band: | 12q12-q13 |
| Quick Links | Entrez ID:3853; OMIM: 148041; Uniprot ID:K2C6A_HUMAN; ENSEMBL ID: ENSG00000205420 |
Sequences Top Evidence Statistic 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 | Expression | CNV | Linkage | Low Scale Association | Other Studies | Total |
|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 1 (1) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 4 (2) |
Syndromic Autism Gene TopLow Scale Association Studies (by Ethnic Group) TopGenome-Wide Association Studies(By Ethnic Group) TopOther Low Scale Gene Studies TopLarge Scale Expression Studies Top Microarray Studies: 0
| Reference | Population | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | ||||||||||||
Proteomics Studies:1
| Reference | Population | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| Corbett, 2007_1 | USA | blood | liquid chromatography-electrospray ionization-mass spectrometry (LC-ESI-MS) | 69 (15.94%) |  | | ASD | 35 (17.14%) |
|
CNV Studies Top| CNV Name | Chr | Band | Gain/Loss | Number of CNVs | Evidence Type | Reference | |
|---|---|---|---|---|---|---|---|
| Case | Control | ||||||
| AutCNV0000102 | 12 | 12q12-24.33 | gain | 1 | - | Overlapping/Recurrent CNVs; | Szatmari, 2007 |
Linkage Studies Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P_Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000116 | 12q13.13 | 12 | - | - | 2.34 | - | Spence, 2006 |
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