RHCE

Rh blood group CcEe antigens, the group of Blood group antigens|CD molecules

Basic information

Region (hg38): 1:25362248-25430192

Previous symbols: [ "RH" ]

Links

ENSG00000188672 ∙ NCBI:6006 ∙ OMIM:111700 ∙ HGNC:10008 ∙ Uniprot:P18577 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Rh deficiency syndrome (Supportive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Rhesus blood group	BG	Hematologic	Variants associated with a blood group may be important in specific situations (eg, related to transfusion)	Hematologic	1824267; 8220426; 9657769

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RHCE gene.

• Inborn genetic diseases (11 variants)
• not provided (8 variants)
• - (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHCE 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			9	4	4	17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	4	4

Variants in RHCE

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

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

Position	Type	Phenotype	Significance	ClinVar
1-25370499-C-T		not specified	Uncertain significance (May 04, 2023)
1-25370511-C-T		not specified	Uncertain significance (May 05, 2023)
1-25375385-C-T		-	no classification for the single variant (-)
1-25375402-A-G		not specified	Likely benign (Jan 18, 2023)
1-25385733-T-C		not specified	Likely benign (Feb 28, 2023)
1-25385733-T-TATGAAGC		RH-NULL, AMORPH TYPE	Pathogenic (May 14, 2018)
1-25385759-G-A			Benign (Aug 02, 2017)
1-25385816-TGA-G		RH-NULL, AMORPH TYPE	Pathogenic (May 15, 2018)
1-25385820-TC-T		RH-NULL, AMORPH TYPE	Pathogenic (May 15, 2018)
1-25388977-G-A		not specified	Uncertain significance (Jan 04, 2022)
1-25388983-C-T		not specified	Uncertain significance (Jun 01, 2022)
1-25388996-C-T		not specified	Uncertain significance (Nov 09, 2021)
1-25388999-T-C			Likely benign (Oct 24, 2017)
1-25389003-G-C		not specified	Uncertain significance (Feb 27, 2024)
1-25389032-T-C		altered RhC expression	Affects (-)
1-25389095-C-T		not specified	Uncertain significance (Aug 04, 2023)
1-25389109-T-C		not specified	Uncertain significance (Sep 22, 2023)
1-25390838-T-C			Benign (Oct 24, 2017)
1-25390874-C-C		RH E/e POLYMORPHISM	Benign (Sep 01, 1993)
1-25391993-C-A		RH-NULL, AMORPH TYPE	Pathogenic (May 15, 2018)
1-25392071-C-T		not specified	Uncertain significance (Jul 09, 2021)
1-25402642-A-T		not specified	Uncertain significance (Nov 19, 2022)
1-25402655-C-G		not specified	Uncertain significance (Oct 10, 2023)
1-25402700-C-T		not specified	Uncertain significance (Jun 29, 2023)
1-25402721-T-A			Likely benign (Sep 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RHCE	protein_coding	protein_coding	ENST00000294413	10	67944

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00116	0.990	125733	0	15	125748	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.403	211	228	0.925	0.0000131	2667
Missense in Polyphen		39	60.826	0.64117		835
Synonymous	0.149	95	96.9	0.981	0.00000631	876
Loss of Function	2.31	8	18.8	0.426	9.75e-7	208

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000116	0.000116
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000619	0.0000615
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.

Recessive Scores

• pRec: 0.119

Intolerance Scores

• loftool: 0.624
• rvis_EVS: 1.69
• rvis_percentile_EVS: 96.38

Haploinsufficiency Scores

• pHI: 0.189
• hipred: N
• hipred_score: 0.380

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00564

Gene Damage Prediction

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

Gene ontology

• Biological process: ammonium transmembrane transport
• Cellular component: integral component of plasma membrane
• Molecular function: ammonium transmembrane transporter activity