CHURC1 (churchill domain containing 1)

2014-11-01  

Identity

HGNC
LOCATION
14q23.3
LOCUSID
ALIAS
C14orf52,My015,chch
FUSION GENES

Other Information

Locus ID:

NCBI: 91612
MIM: 608577
HGNC: 20099
Ensembl: ENSG00000258289

Variants:

dbSNP: 91612
ClinVar: 91612
TCGA: ENSG00000258289
COSMIC: CHURC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000258289ENST00000547625H0YID9
ENSG00000258289ENST00000548752Q8WUH1
ENSG00000258289ENST00000549115Q8WUH1
ENSG00000258289ENST00000549115A0A024R6B7
ENSG00000258289ENST00000551093H0YHA3
ENSG00000258289ENST00000551947H0YHB4
ENSG00000258289ENST00000552002A0A0C4DGJ7
ENSG00000258289ENST00000607599Q8WUH1

Expression (GTEx)

0
10
20
30
40
50
60
70

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447197Attention Deficit Disorder with HyperactivityDiseaseClinicalAnnotationassociatedPD29382897
PA450464methylphenidateChemicalClinicalAnnotationassociatedPD29382897

References

Pubmed IDYearTitleCitations
213608292011A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.16
213608292011A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.16
176108972007Embryonic neural inducing factor churchill is not a DNA-binding zinc finger protein: solution structure reveals a solvent-exposed beta-sheet and zinc binuclear cluster.9
176108972007Embryonic neural inducing factor churchill is not a DNA-binding zinc finger protein: solution structure reveals a solvent-exposed beta-sheet and zinc binuclear cluster.9

Citation

Dessen P

CHURC1 (churchill domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61829/haematological-explorer/js/lib/popper.js