OSGIN1

oxidative stress induced growth inhibitor 1

Basic information

Region (hg38): 16:83931311-83966332

Links

ENSG00000140961NCBI:29948OMIM:607975HGNC:30093Uniprot:Q9UJX0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OSGIN1 gene.

  • not_specified (73 variants)
  • not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OSGIN1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000182981.3. 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
2
clinvar
2
missense
70
clinvar
4
clinvar
74
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 70 4 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OSGIN1protein_codingprotein_codingENST00000361711 518051
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.57e-110.05751256740501257240.000199
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.283783141.200.00002043063
Missense in Polyphen140131.061.06821200
Synonymous-1.111711541.110.00001161030
Loss of Function0.1401717.60.9640.00000102162

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007180.000717
Ashkenazi Jewish0.000.00
East Asian0.0002180.000217
Finnish0.000.00
European (Non-Finnish)0.0001350.000132
Middle Eastern0.0002180.000217
South Asian0.0003920.000392
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Regulates the differentiation and proliferation of normal cells through the regulation of cell death. {ECO:0000269|PubMed:11459809, ECO:0000269|PubMed:14570898}.;

Recessive Scores

pRec
0.0981

Intolerance Scores

loftool
0.777
rvis_EVS
-0.01
rvis_percentile_EVS
52.35

Haploinsufficiency Scores

pHI
0.122
hipred
N
hipred_score
0.250
ghis
0.456

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.955

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Osgin1
Phenotype

Gene ontology

Biological process
multicellular organism development;regulation of signaling receptor activity;cell differentiation;negative regulation of cell growth;positive regulation of apoptotic process
Cellular component
cellular_component
Molecular function
protein binding;growth factor activity