IL21R
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
IL21R (HGNC:6006) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
interleukin 21 receptor
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CD360
%HI
84.41(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.24(Read more about gnomAD pLI score)
LOEUF
0.63(Read more about gnomAD LOEUF score)
Cytoband
16p12.1
Genomic Coordinates
GRCh37/hg19: chr16:27413495-27463363 NCBI Ensembl UCSC
GRCh38/hg38: chr16:27402174-27452042 NCBI Ensembl UCSC
MANE Select Transcript
NM_181078.3 ENST00000337929.8 (Read more about MANE Select)
Function
This is a receptor for interleukin-21. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-28765
ClinGen Curation ID:
CCID:007324
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
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:
  • cryptosporidiosis-chronic cholangitis-liver disease syndrome Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)