Evidence Detail for CHKB
Basic Information Top
| Gene Symbol: | CHKB ( CHETK,CHKL,CK,CKB,CKEKB,EK,EKB ) |
|---|---|
| Gene Full Name: | choline kinase beta |
| Band: | 22q13.33 |
| Quick Links | Entrez ID:1120; OMIM: 612395; Uniprot ID:CHKB_HUMAN; ENSEMBL ID: ENSG00000100288 |
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) | 2 (8) | 0 (0) | 0 (0) | 0 (0) | 5 (1) |
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: 1
| Reference | Population | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) |  | | - | autism | 16 (6.25%) |
0.943833 | Down | 38.8588 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Population | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
CNV Studies Top| CNV Name | Chr | Band | Gain/Loss | Number of CNVs | Evidence Type | Reference | |
|---|---|---|---|---|---|---|---|
| Case | Control | ||||||
| AutCNV0000015 | 22 | 22q13.31-13.33 | loss | 1 | - | Denovo CNVs; | Sebat, 2007 |
| AutCNV0000159 | 22 | 22q13.31-13.33 | loss | 1 | - | Denovo CNVs; | Marshall, 2008 |
| AutCNV0000160 | 22 | 22q13.33 | loss | 1 | - | Denovo CNVs; | Marshall, 2008 |
| AutCNV0000277 | 22 | 22q13 | gain | 1 | - | CNVs Only Present In Patients; | Wassink, 2001 |
| AutCNV0000282 | 22 | 22q13 | loss | 1 | - | Denovo CNVs; | Prasad, 2000 |
| AutCNV0000296 | 22 | 22q13.3 | loss | 1 | - | Denovo CNVs; | Goizet, 2000 |
| AutCNV0000385 | 22 | 22q13.33 | - | - | - | CNVs Only Present In Patients; Significant Enriched CNVs; | Zwaag, 2009 |
| AutCNV0000386 | 22 | 22q13.33 | - | - | - | CNVs Only Present In Patients; Significant Enriched CNVs; | Zwaag, 2009 |
| AutCNV0000710 | 22 | 22q13.2-qter | loss | 1 | - | CNVs Only Present In Patients; | Chen, 2011 |
| AutCNV0004395 | 22 | 22q13.31-q13.33 | loss | 1 | - | CNVs Only Present In Patients; | Sanders, 2011 |
| AutCNV0004396 | 22 | 22q13.31-q13.33 | loss | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004397 | 22 | 22q13.33 | loss | 1 | - | Overlapping/Recurrent CNVs; | Sanders, 2011 |
| AutCNV0004621 | 22 | 22q13 | loss | - | - | CNVs Only Present In Patients; Denovo CNVs; | Durand, 2007 |
| AutCNV0004622 | 22 | 22q13.33 | loss | - | - | CNVs Only Present In Patients; | Durand, 2007 |
Linkage 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.
