CLCF1
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CLCF1 (HGNC:17412) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
cardiotrophin like cytokine factor 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
NNT1, BSF3, CLC, NR6, CISS2, BSF-3, NNT-1
%HI
30.27(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.33(Read more about gnomAD pLI score)
LOEUF
0.73(Read more about gnomAD LOEUF score)
Cytoband
11q13.2
Genomic Coordinates
GRCh37/hg19: chr11:67131639-67141648 NCBI Ensembl UCSC
GRCh38/hg38: chr11:67364168-67374177 NCBI Ensembl UCSC
MANE Select Transcript
NM_013246.3 ENST00000312438.8 (Read more about MANE Select)
Function
In complex with CRLF1, forms a heterodimeric neurotropic cytokine that plays a crucial role during neuronal development (Probable). Also stimulates B-cells. Binds to and activates the ILST/gp130 receptor. {ECO:0000269|PubMed:10448081, ECO:0000269|PubMed:10500198, ECO:0000305|PubMed:26858303}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-15845
ClinGen Curation ID:
CCID:006873
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • cold-induced sweating syndrome 2 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)