OSER1

oxidative stress responsive serine rich 1

Basic information

Region (hg38): 20:44195939-44210771

Previous symbols: [ "C20orf111" ]

Links

ENSG00000132823 ∙ NCBI:51526 ∙ ∙ HGNC:16105 ∙ Uniprot:Q9NX31 ∙ 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 OSER1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OSER1 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in OSER1

This is a list of pathogenic ClinVar variants found in the OSER1 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-44197158-C-T		not specified	Uncertain significance (Jan 18, 2023)
20-44197369-C-G		not specified	Uncertain significance (Dec 03, 2021)
20-44197413-G-T		not specified	Uncertain significance (May 17, 2023)
20-44197426-C-T		not specified	Uncertain significance (May 11, 2022)
20-44197473-G-A		not specified	Uncertain significance (Aug 23, 2021)
20-44197555-G-C		not specified	Uncertain significance (Jul 14, 2021)
20-44197597-T-C		not specified	Uncertain significance (Oct 21, 2021)
20-44202982-G-A		not specified	Uncertain significance (Jun 13, 2024)
20-44203039-C-A		not specified	Uncertain significance (Jan 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OSER1	protein_coding	protein_coding	ENST00000372970	3	14296

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00286	0.946	125736	0	12	125748	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.739	134	160	0.836	0.00000859	1885
Missense in Polyphen		30	62.417	0.48064		737
Synonymous	-0.474	63	58.4	1.08	0.00000315	603
Loss of Function	1.70	6	12.5	0.480	8.62e-7	135

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000337	0.000152
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.116

Intolerance Scores

• rvis_EVS: -0.1
• rvis_percentile_EVS: 46.49

Haploinsufficiency Scores

• pHI: 0.283
• hipred: N
• hipred_score: 0.394
• ghis: 0.525

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Oser1