• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CSTB (HGNC:2482) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
cystatin B
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
EPM1, STFB
Alias symbols
CST6, PME
%HI
86.14(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.01(Read more about gnomAD pLI score)
LOEUF
1.85(Read more about gnomAD LOEUF score)
Cytoband
21q22.3
Genomic Coordinates
GRCh37/hg19: chr21:45193831-45196189 NCBI Ensembl UCSC
GRCh38/hg38: chr21:43773950-43776308 NCBI Ensembl UCSC
MANE Select Transcript
NM_000100.4 ENST00000291568.7 (Read more about MANE Select)
Function
This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-7722
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000021.8) (NC_000021.9)