OSGIN1

oxidative stress induced growth inhibitor 1

Basic information

Region (hg38): 16:83931311-83966332

Links

ENSG00000140961 ∙ NCBI:29948 ∙ OMIM:607975 ∙ HGNC:30093 ∙ Uniprot:Q9UJX0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					2	2
missense			70	4		74
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	70	4	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OSGIN1	protein_coding	protein_coding	ENST00000361711	5	18051

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.57e-11	0.0575	125674	0	50	125724	0.000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.28	378	314	1.20	0.0000204	3063
Missense in Polyphen		140	131.06	1.0682		1200
Synonymous	-1.11	171	154	1.11	0.0000116	1030
Loss of Function	0.140	17	17.6	0.964	0.00000102	162

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000718	0.000717
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000135	0.000132
Middle Eastern	0.000218	0.000217
South Asian	0.000392	0.000392
Other	0.000163	0.000163

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Osgin1

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