RHEX

regulator of hemoglobinization and erythroid cell expansion

Basic information

Region (hg38): 1:206053173-206102449

Previous symbols: [ "C1orf186" ]

Links

ENSG00000263961 ∙ NCBI:440712 ∙ OMIM:616088 ∙ HGNC:25341 ∙ Uniprot:Q6ZWK4 ∙ 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 RHEX gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHEX 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			1			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in RHEX

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

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

Position	Type	Phenotype	Significance	ClinVar
1-206098101-G-C		not specified	Uncertain significance (Nov 08, 2021)
1-206098188-G-T		RHEX-related disorder	Benign (May 28, 2019)
1-206099681-G-A		RHEX-related disorder	Benign (Jun 21, 2019)
1-206099770-C-T		RHEX-related disorder	Likely benign (Sep 18, 2019)
1-206101143-C-T		RHEX-related disorder	Likely benign (Jun 06, 2019)
1-206101182-G-A		RHEX-related disorder	Benign (Jun 18, 2019)
1-206101757-A-G		RHEX-related disorder	Benign (Nov 25, 2019)
1-206101782-G-A		RHEX-related disorder	Benign (Jun 03, 2019)
1-206101916-G-A		RHEX-related disorder	Benign (Dec 02, 2019)
1-206101928-G-A		RHEX-related disorder	Benign (Nov 25, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a signaling transduction factor of the EPO-EPOR signaling pathway promoting erythroid cell differentiation (PubMed:25092874). {ECO:0000269|PubMed:25092874}.

Intolerance Scores

• rvis_EVS: 0.26
• rvis_percentile_EVS: 70.06

Haploinsufficiency Scores

• pHI: 0.139
• hipred: N
• hipred_score: 0.123

Gene ontology

• Biological process: cellular response to erythropoietin;erythropoietin-mediated signaling pathway;erythrocyte maturation;positive regulation of erythrocyte differentiation
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: erythropoietin receptor binding;protein binding