CRIPT (CXXC repeat containing interactor of PDZ3 domain)

2014-11-01  

Identity

HGNC
LOCATION
2p21
LOCUSID
ALIAS
HSPC139,SSMDF
FUSION GENES

Other Information

Locus ID:

NCBI: 9419
MIM: 604594
HGNC: 14312
Ensembl: ENSG00000119878

Variants:

dbSNP: 9419
ClinVar: 9419
TCGA: ENSG00000119878
COSMIC: CRIPT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119878ENST00000238892Q9P021

Expression (GTEx)

0
5
10
15
20
25
30
35

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
203989082010Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.32
272509222016CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.5
308649482019Intramolecular domain dynamics regulate synaptic MAGUK protein interactions.4

Citation

Dessen P

CRIPT (CXXC repeat containing interactor of PDZ3 domain)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62088/cript