CD27 |
- 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)