ERAP1
Basic information
Region (hg38): 5:96760810-96808100
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (100 variants)
- not_provided (28 variants)
- Long_QT_syndrome (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERAP1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001040458.3. 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.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 18 | |||||
missense | 90 | 11 | 104 | |||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 91 | 20 | 12 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ERAP1 | protein_coding | protein_coding | ENST00000296754 | 19 | 47283 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
2.06e-26 | 0.00253 | 124532 | 5 | 1211 | 125748 | 0.00485 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.529 | 470 | 503 | 0.934 | 0.0000256 | 6269 |
Missense in Polyphen | 150 | 164.73 | 0.9106 | 2130 | ||
Synonymous | -0.0410 | 190 | 189 | 1.00 | 0.0000106 | 1779 |
Loss of Function | 0.794 | 43 | 49.0 | 0.878 | 0.00000245 | 567 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0181 | 0.0182 |
Ashkenazi Jewish | 0.0000999 | 0.0000992 |
East Asian | 0.00761 | 0.00764 |
Finnish | 0.00166 | 0.00166 |
European (Non-Finnish) | 0.00390 | 0.00389 |
Middle Eastern | 0.00761 | 0.00764 |
South Asian | 0.00373 | 0.00363 |
Other | 0.00391 | 0.00392 |
dbNSFP
Source:
- Function
- FUNCTION: Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I- binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Strongly prefers substrates 9-16 residues long. Rapidly degrades 13-mer to a 9-mer and then stops. Preferentially hydrolyzes the residue Leu and peptides with a hydrophobic C-terminus, while it has weak activity toward peptides with charged C-terminus. May play a role in the inactivation of peptide hormones. May be involved in the regulation of blood pressure through the inactivation of angiotensin II and/or the generation of bradykinin in the kidney. {ECO:0000269|PubMed:15908954, ECO:0000269|PubMed:16286653, ECO:0000269|PubMed:21478864}.;
Recessive Scores
- pRec
- 0.116
Intolerance Scores
- loftool
- 0.999
- rvis_EVS
- 1.08
- rvis_percentile_EVS
- 91.73
Haploinsufficiency Scores
- pHI
- 0.107
- hipred
- N
- hipred_score
- 0.167
- ghis
- 0.467
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.517
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Erap1
- Phenotype
- immune system phenotype; renal/urinary system phenotype; hematopoietic system phenotype; endocrine/exocrine gland phenotype;
Gene ontology
- Biological process
- angiogenesis;adaptive immune response;antigen processing and presentation of peptide antigen via MHC class I;proteolysis;membrane protein ectodomain proteolysis;regulation of blood pressure;response to bacterium;antigen processing and presentation of endogenous peptide antigen via MHC class I;peptide catabolic process;regulation of innate immune response;fat cell differentiation;positive regulation of angiogenesis
- Cellular component
- extracellular region;extracellular space;cytoplasm;endoplasmic reticulum;endoplasmic reticulum lumen;endoplasmic reticulum membrane;cytosol;membrane;integral component of membrane;extracellular exosome
- Molecular function
- endopeptidase activity;aminopeptidase activity;interleukin-6 receptor binding;interleukin-1, type II receptor binding;protein binding;metalloexopeptidase activity;zinc ion binding;peptide binding;metalloaminopeptidase activity