ERRFI1
ERBB receptor feedback inhibitor 1
Basic information
Region (hg38): 1:8004404-8026309
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (48 variants)
- not_provided (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERRFI1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018948.4. 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 | 2 | |||||
| missense | 47 | 49 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 47 | 1 | 3 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ERRFI1 | protein_coding | protein_coding | ENST00000377482 | 3 | 21905 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0122 | 0.955 | 125724 | 0 | 19 | 125743 | 0.0000756 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.896 | 211 | 251 | 0.841 | 0.0000134 | 3001 |
| Missense in Polyphen | 69 | 93.76 | 0.73592 | 1052 | ||
| Synonymous | -0.144 | 97 | 95.2 | 1.02 | 0.00000557 | 959 |
| Loss of Function | 1.86 | 5 | 11.9 | 0.419 | 7.32e-7 | 151 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000109 | 0.000109 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.000114 | 0.000114 |
| Middle Eastern | 0.000109 | 0.000109 |
| South Asian | 0.0000980 | 0.0000980 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Negative regulator of EGFR signaling in skin morphogenesis. Acts as a negative regulator for several EGFR family members, including ERBB2, ERBB3 and ERBB4. Inhibits EGFR catalytic activity by interfering with its dimerization. Inhibits autophosphorylation of EGFR, ERBB2 and ERBB4. Important for normal keratinocyte proliferation and differentiation. Plays a role in modulating the response to steroid hormones in the uterus. Required for normal response to progesterone in the uterus and for fertility. Mediates epithelial estrogen responses in the uterus by regulating ESR1 levels and activation. Important for regulation of endometrium cell proliferation. Important for normal prenatal and perinatal lung development (By similarity). {ECO:0000250}.;
- Pathway
- Signaling Pathways in Glioblastoma;EGF-EGFR Signaling Pathway;EGFR1
(Consensus)
Recessive Scores
- pRec
- 0.217
Intolerance Scores
- loftool
- 0.495
- rvis_EVS
- 0.35
- rvis_percentile_EVS
- 74.49
Haploinsufficiency Scores
- pHI
- 0.341
- hipred
- Y
- hipred_score
- 0.800
- ghis
- 0.381
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.919
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Errfi1
- Phenotype
- skeleton phenotype; immune system phenotype; vision/eye phenotype; digestive/alimentary phenotype; limbs/digits/tail phenotype; neoplasm; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; reproductive system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; homeostasis/metabolism phenotype; craniofacial phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan);
Gene ontology
- Biological process
- negative regulation of epidermal growth factor-activated receptor activity;negative regulation of protein autophosphorylation;negative regulation of interleukin-1 beta production;cellular response to insulin stimulus;negative regulation of collagen biosynthetic process;cellular response to platelet-derived growth factor stimulus;negative regulation of epidermal growth factor receptor signaling pathway;negative regulation of tumor necrosis factor biosynthetic process;positive regulation of GTPase activity;skin morphogenesis;regulation of keratinocyte differentiation;lung alveolus development;lung vasculature development;lung epithelium development;regulation of type B pancreatic cell proliferation;negative regulation of ERK1 and ERK2 cascade;cellular response to epidermal growth factor stimulus;cellular hyperosmotic response;cellular response to dexamethasone stimulus;negative regulation of cardiac muscle hypertrophy in response to stress
- Cellular component
- nucleus;cytoplasm;cytosol;extrinsic component of cytoplasmic side of plasma membrane
- Molecular function
- GTPase activator activity;protein binding;SH3 domain binding;protein kinase binding;small GTPase binding