ERMAP

erythroblast membrane associated protein (Scianna blood group), the group of V-set domain containing|Butyrophilins|Blood group antigens

Basic information

Region (hg38): 1:42817122-42844991

Previous symbols: [ "RD", "SC" ]

Links

ENSG00000164010NCBI:114625OMIM:609017HGNC:15743Uniprot:Q96PL5AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Blood group, Scianna system; Blood group, RadinBGHematologicVariants associated with a blood group may be important in specific situations (eg, related to transfusion)Hematologic7998072; 12393480; 15954808

ClinVar

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

  • not_specified (57 variants)
  • ERMAP-related_disorder (4 variants)
  • not_provided (2 variants)
  • Antigen_in_Scianna_blood_group_system (1 variants)
  • RADIN_BLOOD_GROUP_ANTIGEN (1 variants)
  • SCIANNA_BLOOD_GROUP_SYSTEM,_SC:-1,-2 (1 variants)
  • SCIANNA_BLOOD_GROUP_SYSTEM,_SC:-1,2 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERMAP gene is commonly pathogenic or not. These statistics are base on transcript: NM_001017922.2. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
3
clinvar
1
clinvar
4
missense
55
clinvar
4
clinvar
2
clinvar
61
nonsense
0
start loss
0
frameshift
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
Total 1 0 55 7 3

Highest pathogenic variant AF is 0.00000657324

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ERMAPprotein_codingprotein_codingENST00000372517 1027866
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
4.91e-100.3701256700781257480.000310
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.7052342660.8780.00001503038
Missense in Polyphen7794.0920.818351122
Synonymous0.2301051080.9720.00000600997
Loss of Function0.9621721.90.7780.00000110255

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007630.000764
Ashkenazi Jewish0.0001980.000198
East Asian0.0004370.000435
Finnish0.000.00
European (Non-Finnish)0.0002560.000255
Middle Eastern0.0004370.000435
South Asian0.0007850.000784
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Possible role as a cell-adhesion or receptor molecule of erythroid cells.;

Intolerance Scores

loftool
0.966
rvis_EVS
0.67
rvis_percentile_EVS
84.64

Haploinsufficiency Scores

pHI
0.367
hipred
N
hipred_score
0.148
ghis
0.431

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.404

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ermap
Phenotype

Gene ontology

Biological process
regulation of immune response;T cell receptor signaling pathway
Cellular component
cytoplasm;plasma membrane;external side of plasma membrane;integral component of membrane
Molecular function
signaling receptor binding