CRNKL1 (crooked neck pre-mRNA splicing factor 1)

2014-08-01  

Identity

HGNC
LOCATION
20p11.23
LOCUSID
ALIAS
CLF,CRN,Clf1,HCRN,MSTP021,SYF3
FUSION GENES

Other Information

Locus ID:

NCBI: 51340
MIM: 610952
HGNC: 15762
Ensembl: ENSG00000101343

Variants:

dbSNP: 51340
ClinVar: 51340
TCGA: ENSG00000101343
COSMIC: CRNKL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101343ENST00000377327Q5JY65
ENSG00000101343ENST00000377340Q9BZJ0
ENSG00000101343ENST00000490910A0A0C4DGD7
ENSG00000101343ENST00000496549Q9BZJ0
ENSG00000101343ENST00000536226Q9BZJ0

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, 35S U5-snRNPKEGGhsa_M00355
Spliceosome, 35S U5-snRNPKEGGM00355
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

References

Pubmed IDYearTitleCitations
172968752007Corin I555(P568) allele is associated with enhanced cardiac hypertrophic response to increased systemic afterload.54
120845752002Crooked neck is a component of the human spliceosome and implicated in the splicing process.13

Citation

Dessen P

CRNKL1 (crooked neck pre-mRNA splicing factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54239/crnkl1