ERRFI1

ERBB receptor feedback inhibitor 1

Basic information

Region (hg38): 1:8004403-8026309

Links

ENSG00000116285 ∙ NCBI:54206 ∙ OMIM:608069 ∙ HGNC:18185 ∙ Uniprot:Q9UJM3 ∙ 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 ERRFI1 gene.

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.

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				1	1	2
missense			20		2	22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	1	3

Variants in ERRFI1

This is a list of pathogenic ClinVar variants found in the ERRFI1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-8013329-G-T		not specified	Uncertain significance (Nov 06, 2023)
1-8013367-A-G		not specified	Uncertain significance (Dec 27, 2022)
1-8013380-A-G		not specified	Uncertain significance (Jan 24, 2024)
1-8013400-C-G		not specified	Uncertain significance (Mar 28, 2023)
1-8013444-A-C		not specified	Uncertain significance (May 25, 2022)
1-8013566-C-A		not specified	Uncertain significance (Jun 11, 2021)
1-8013589-C-G		not specified	Uncertain significance (Oct 12, 2022)
1-8013640-G-A		not specified	Uncertain significance (Mar 11, 2022)
1-8013682-G-C		not specified	Uncertain significance (Feb 14, 2024)
1-8013768-A-C		not specified	Uncertain significance (Jul 26, 2022)
1-8013771-G-A		not specified	Likely benign (Jan 16, 2024)
1-8013781-G-A		not specified	Uncertain significance (Apr 29, 2024)
1-8013794-T-C		not specified	Uncertain significance (Dec 12, 2023)
1-8013809-T-G		not specified	Uncertain significance (Feb 07, 2023)
1-8013865-C-T		not specified	Uncertain significance (Sep 29, 2022)
1-8013869-G-T			Benign (Jun 18, 2018)
1-8013883-G-A			Benign (Apr 30, 2018)
1-8013917-G-C		not specified	Uncertain significance (Oct 12, 2022)
1-8013937-T-G		not specified	Uncertain significance (Jan 03, 2024)
1-8013991-C-T		not specified	Uncertain significance (Jan 03, 2024)
1-8014127-T-G			Benign (May 21, 2018)
1-8014157-G-A		not specified	Uncertain significance (Nov 09, 2022)
1-8015359-T-G		not specified	Uncertain significance (Jun 28, 2023)
1-8015510-C-A		not specified	Uncertain significance (Dec 19, 2023)
1-8015525-G-A		not specified	Uncertain significance (Dec 19, 2022)

GnomAD

Source: gnomAD

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: dbNSFP

• 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