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GeneBe

SERPINB4

serpin family B member 4, the group of Serpin peptidase inhibitors

Basic information

Region (hg38): 18:63637258-63644256

Previous symbols: [ "SCCA2" ]

Links

ENSG00000206073NCBI:6318OMIM:600518HGNC:10570Uniprot:P48594AlphaFoldGenCCjaxSfariGnomADPubmed

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SERPINB4 gene.

  • Inborn genetic diseases (12 variants)
  • Malignant tumor of prostate (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SERPINB4 gene is commonly pathogenic or not.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous 0
missense 12 1 13
nonsense 0
start loss 0
frameshift 0
inframe indel 0
splice variant 0
non coding 0
Total 0 0 12 1 0

Variants in SERPINB4

This is a list of pathogenic ClinVar variants found in the SERPINB4 region.

Position Type Phenotype Significance ClinVar
18-63637765-T-C Inborn genetic diseases Uncertain significance (Apr 22, 2022)link
18-63637773-T-C Inborn genetic diseases Uncertain significance (Dec 05, 2022)link
18-63637802-A-G Inborn genetic diseases Uncertain significance (Jun 29, 2023)link
18-63637975-T-C Inborn genetic diseases Uncertain significance (Jul 11, 2022)link
18-63637999-G-C Inborn genetic diseases Uncertain significance (Jan 03, 2022)link
18-63639286-A-T Inborn genetic diseases Uncertain significance (Aug 02, 2022)link
18-63639317-C-A Inborn genetic diseases Uncertain significance (Feb 13, 2023)link
18-63639643-C-G Inborn genetic diseases Uncertain significance (Feb 22, 2023)link
18-63639644-C-A Inborn genetic diseases Uncertain significance (Feb 22, 2023)link
18-63639663-T-C Inborn genetic diseases Uncertain significance (Sep 14, 2022)link
18-63639677-A-G Inborn genetic diseases Uncertain significance (Jun 07, 2023)link
18-63639683-T-C Inborn genetic diseases Uncertain significance (Jun 29, 2022)link
18-63639714-T-G Inborn genetic diseases Uncertain significance (Dec 02, 2022)link
18-63639731-G-A Inborn genetic diseases Uncertain significance (Dec 02, 2022)link
18-63639756-G-T Inborn genetic diseases Uncertain significance (May 31, 2023)link
18-63639761-A-G Inborn genetic diseases Uncertain significance (Apr 07, 2022)link
18-63639770-A-T Malignant tumor of prostate Uncertain significance (-)link
18-63643180-T-C Inborn genetic diseases Uncertain significance (Oct 20, 2021)link
18-63643498-A-G Inborn genetic diseases Likely benign (Jun 09, 2022)link

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SERPINB4protein_codingprotein_codingENST00000341074 77040
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
8.76e-170.00064912532403851257090.00153
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.872792041.370.000009942604
Missense in Polyphen8667.1391.2809913
Synonymous-3.1411579.41.450.00000447685
Loss of Function-1.462114.91.416.95e-7182

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.006700.00666
Ashkenazi Jewish0.0006960.000695
East Asian0.0001090.000109
Finnish0.00009240.0000924
European (Non-Finnish)0.001520.00151
Middle Eastern0.0001090.000109
South Asian0.0002660.000261
Other0.002130.00212

dbNSFP

Source: dbNSFP

Function
FUNCTION: May act as a protease inhibitor to modulate the host immune response against tumor cells.;
Pathway
Amoebiasis - Homo sapiens (human) (Consensus)

Recessive Scores

pRec
0.117

Intolerance Scores

loftool
0.235
rvis_EVS
-0.33
rvis_percentile_EVS
30.7

Haploinsufficiency Scores

pHI
0.0704
hipred
N
hipred_score
0.112
ghis
0.419

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.534

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Serpinb3d
Phenotype

Gene ontology

Biological process
negative regulation of peptidase activity;negative regulation of endopeptidase activity;regulation of proteolysis;protection from natural killer cell mediated cytotoxicity
Cellular component
extracellular space;cytoplasm
Molecular function
protease binding;serine-type endopeptidase inhibitor activity;enzyme binding