• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CD27 (HGNC:11922) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
CD27 molecule
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
TNFRSF7
Alias symbols
S152, Tp55
%HI
67.27(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.01(Read more about gnomAD pLI score)
LOEUF
0.92(Read more about gnomAD LOEUF score)
Cytoband
12p13.31
Genomic Coordinates
GRCh37/hg19: chr12:6554121-6560879 NCBI Ensembl UCSC
GRCh38/hg38: chr12:6443892-6451713 NCBI Ensembl UCSC
MANE Select Transcript
NM_001242.5 ENST00000266557.4 (Read more about MANE Select)
Function
Receptor for CD70/CD27L. May play a role in survival of activated T-cells. May play a role in apoptosis through association with SIVA1. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-31854
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
07/28/2023

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • lymphoproliferative syndrome 2 Monarch
HI Evidence Comments:
PMID: 32041749, Kishore et al (2020) reported a 10 year old girl with homozygous mutation (c.95A>G, p.Tyr32Cys) in CD27 diagnosed with EBV-driven lymphopoliferative disease with pan hypogammaglobulinemia and bronchietasis. PMID: 25843314, Alkhairy et al (2015) reported homozygous mutations c.G24A, p.W8X (n=2), c.G158A,p.C53Y(n=8), c.G287A, p.C96Y (n=4), c.C232T, p.R78W (n=1), and compound heterozygous mutations c.C319T, p.R107C-c.G24A, p.W8X (n=1) in CD27 gene with consistent EBV-associated lyphoproliferative disease/hemophagocytic lymphohistiocytosis, hodgkins lymphoma, uvetis, and recurrent infections. CD27 expression was either reduced or absent in tested patients. PMID: 22801960, Salzer et al (2013) reported 3 independent families (n=8) with homozygous mutation (p.Cys53Tyr) in CD27 having phenotypes ranging from asymptomatic memory B-cell deficiency (n=3) to EBV-associated hemophagocytosis and lyphoproliferative disorder (n=3) and malignant lymphoma (n=2). CD27 expression was shown to be absent in 6/8 patients tested. PMID: 22197273, van Montfrans et al (2012) reported the first case with homozygous nonsense mutation (c.G24A, p.W8X) in two brothers that inherited from consanguineous parents with persistent symptomatic EBV viremia with lethal aplastic anemia in one and hypogammaglobulinemia with impared specific antibody function in the other. CD27 expression was found to be absent in both.

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)