SRXN1

sulfiredoxin 1

Basic information

Region (hg38): 20:646614-653200

Previous symbols: [ "C20orf139" ]

Links

ENSG00000271303 ∙ NCBI:140809 ∙ OMIM:617583 ∙ HGNC:16132 ∙ Uniprot:Q9BYN0 ∙ 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 SRXN1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRXN1 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in SRXN1

This is a list of pathogenic ClinVar variants found in the SRXN1 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-648826-C-T		not specified	Uncertain significance (Jul 05, 2023)
20-648838-C-G		not specified	Uncertain significance (Dec 18, 2023)
20-648862-C-T		not specified	Uncertain significance (Sep 23, 2023)
20-653011-G-C		not specified	Uncertain significance (Jul 25, 2023)
20-653058-T-C		not specified	Uncertain significance (Jun 23, 2023)
20-653095-C-A		not specified	Uncertain significance (Apr 22, 2022)
20-653127-T-C		not specified	Uncertain significance (Dec 16, 2023)
20-653145-G-C		not specified	Uncertain significance (May 31, 2023)
20-653145-G-T		not specified	Uncertain significance (Apr 08, 2022)
20-653181-C-T		not specified	Uncertain significance (Mar 29, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SRXN1	protein_coding	protein_coding	ENST00000381962	2	6756

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0697	0.752	125585	0	2	125587	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.295	54	60.5	0.893	0.00000339	823
Missense in Polyphen		30	28.676	1.0462		322
Synonymous	0.368	27	29.5	0.914	0.00000175	301
Loss of Function	0.931	2	4.01	0.499	2.57e-7	39

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000881	0.00000881
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Contributes to oxidative stress resistance by reducing cysteine-sulfinic acid formed under exposure to oxidants in the peroxiredoxins PRDX1, PRDX2, PRDX3 and PRDX4. Does not act on PRDX5 or PRDX6. May catalyze the reduction in a multi-step process by acting both as a specific phosphotransferase and a thioltransferase. {ECO:0000269|PubMed:15448164, ECO:0000269|PubMed:15590625}.
• Pathway: Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling (Consensus)

Haploinsufficiency Scores

• pHI: 0.103
• hipred: Y
• hipred_score: 0.672

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.982

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Srxn1
• Phenotype: homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; immune system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: response to oxidative stress;cellular response to oxidative stress;oxidation-reduction process;cellular oxidant detoxification
• Cellular component: cytosol
• Molecular function: protein binding;ATP binding;oxidoreductase activity, acting on a sulfur group of donors;sulfiredoxin activity