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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:P48594AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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 (18 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.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
17
clinvar
1
clinvar
18
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 17 1 0

Variants in SERPINB4

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

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
18-63637765-T-C not specified Uncertain significance (Apr 22, 2022)2285122
18-63637773-T-C not specified Uncertain significance (Dec 05, 2022)2332504
18-63637802-A-G not specified Uncertain significance (Jun 29, 2023)2597570
18-63637975-T-C not specified Uncertain significance (Jul 11, 2022)2354283
18-63637976-T-C not specified Likely benign (Dec 18, 2023)3160427
18-63637976-T-G not specified Uncertain significance (Feb 16, 2023)3160426
18-63637999-G-C not specified Uncertain significance (Jan 03, 2022)2390877
18-63639286-A-T not specified Uncertain significance (Aug 02, 2022)2331557
18-63639293-A-T not specified Uncertain significance (Feb 23, 2023)3160425
18-63639317-C-A not specified Uncertain significance (Feb 13, 2023)2483181
18-63639318-A-G not specified Uncertain significance (Nov 27, 2023)3160424
18-63639643-C-G not specified Uncertain significance (Feb 22, 2023)2468856
18-63639644-C-A not specified Uncertain significance (Feb 22, 2023)2468855
18-63639663-T-C not specified Uncertain significance (Sep 14, 2022)2311921
18-63639677-A-G not specified Uncertain significance (Jun 07, 2023)2558392
18-63639683-T-C not specified Uncertain significance (Jun 29, 2022)2217251
18-63639714-T-G not specified Uncertain significance (Dec 02, 2022)2332201
18-63639731-G-A not specified Uncertain significance (Dec 02, 2022)2207385
18-63639743-A-G not specified Uncertain significance (Feb 17, 2024)3160423
18-63639756-G-T not specified Uncertain significance (May 31, 2023)2521343
18-63639761-A-G not specified Uncertain significance (Apr 07, 2022)2216456
18-63639770-A-T Malignant tumor of prostate Uncertain significance (-)161604
18-63640982-C-T not specified Uncertain significance (Oct 17, 2023)3160422
18-63641786-C-T not specified Uncertain significance (Jan 30, 2024)3160421
18-63641822-C-T not specified Uncertain significance (Jan 03, 2024)3160420

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