SBSN

suprabasin

Basic information

Region (hg38): 19:35523367-35528351

Links

ENSG00000189001NCBI:374897OMIM:609969HGNC:24950Uniprot:Q6UWP8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • not_specified (96 variants)
  • not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SBSN gene is commonly pathogenic or not. These statistics are base on transcript: NM_001166034.2. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
clinvar
2
missense
87
clinvar
10
clinvar
97
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 88 11 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SBSNprotein_codingprotein_codingENST00000452271 44985
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000006240.8981257300181257480.0000716
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5882983280.9090.00001783860
Missense in Polyphen108132.890.812721480
Synonymous-0.4631491421.050.000009291154
Loss of Function1.581118.30.6018.90e-7209

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001190.000119
Ashkenazi Jewish0.000.00
East Asian0.0001770.000163
Finnish0.00004620.0000462
European (Non-Finnish)0.00008080.0000791
Middle Eastern0.0001770.000163
South Asian0.00006530.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.0981

Intolerance Scores

loftool
0.523
rvis_EVS
2
rvis_percentile_EVS
97.66

Haploinsufficiency Scores

pHI
0.111
hipred
N
hipred_score
0.212
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Sbsn
Phenotype

Gene ontology

Biological process
biological_process
Cellular component
extracellular exosome
Molecular function
molecular_function