PRXL2C

peroxiredoxin like 2C

Basic information

Region (hg38): 9:96639577-96655317

Previous symbols: [ "C9orf21", "AAED1" ]

Links

ENSG00000158122 ∙ NCBI:195827 ∙ ∙ HGNC:16881 ∙ Uniprot:Q7RTV5 ∙ 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 PRXL2C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRXL2C 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			26			26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	0	0

Variants in PRXL2C

This is a list of pathogenic ClinVar variants found in the PRXL2C region.

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

Position	Type	Phenotype	Significance	ClinVar
9-96641787-G-A		not specified	Uncertain significance (Nov 14, 2024)
9-96641849-C-A		not specified	Uncertain significance (Aug 13, 2021)
9-96645929-G-C		not specified	Uncertain significance (Aug 08, 2023)
9-96645952-G-C		not specified	Uncertain significance (Apr 18, 2023)
9-96645968-G-A		not specified	Uncertain significance (Dec 12, 2023)
9-96646001-T-C		not specified	Uncertain significance (Jun 26, 2023)
9-96651396-A-C		not specified	Uncertain significance (Nov 08, 2022)
9-96651398-G-A		not specified	Uncertain significance (Jun 29, 2022)
9-96651446-T-C		not specified	Uncertain significance (Dec 19, 2022)
9-96651458-T-C		not specified	Uncertain significance (Sep 03, 2024)
9-96651459-A-T		not specified	Uncertain significance (Dec 19, 2023)
9-96651669-T-C		not specified	Uncertain significance (Nov 02, 2023)
9-96651678-G-A		not specified	Uncertain significance (Mar 19, 2024)
9-96651703-C-T		not specified	Uncertain significance (Aug 01, 2024)
9-96654716-T-C		not specified	Uncertain significance (Oct 04, 2022)
9-96655104-C-T		not specified	Uncertain significance (Aug 26, 2024)
9-96655152-C-T		not specified	Uncertain significance (Nov 30, 2022)
9-96655169-G-A		not specified	Uncertain significance (May 06, 2024)
9-96655179-C-T		not specified	Uncertain significance (Oct 01, 2024)
9-96655235-G-C		not specified	Uncertain significance (Aug 09, 2021)
9-96655236-C-T		not specified	Uncertain significance (May 21, 2024)
9-96655242-C-G		not specified	Uncertain significance (Dec 14, 2022)
9-96655250-A-G		not specified	Uncertain significance (Oct 08, 2024)
9-96655253-T-C		not specified	Uncertain significance (Mar 01, 2023)
9-96655259-G-C		not specified	Uncertain significance (Jul 14, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRXL2C	protein_coding	protein_coding	ENST00000375234	6	15727

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.01e-7	0.100	125623	0	117	125740	0.000465

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.168	83	87.4	0.949	0.00000422	1431
Missense in Polyphen		31	30.38	1.0204		412
Synonymous	1.33	22	31.5	0.699	0.00000152	464
Loss of Function	-0.403	10	8.72	1.15	3.66e-7	125

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000471	0.000470
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000448	0.000431
Middle Eastern	0.00	0.00
South Asian	0.00195	0.00167
Other	0.000716	0.000652

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0867

Intolerance Scores

• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.56

Haploinsufficiency Scores

• pHI: 0.201
• hipred: N
• hipred_score: 0.216
• ghis: 0.518

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Aaed1

Gene ontology

• Biological process: positive regulation of glycolytic process;oxidation-reduction process;positive regulation of ERK1 and ERK2 cascade;cellular oxidant detoxification
• Molecular function: antioxidant activity