FEV

FEV transcription factor, ETS family member, the group of ETS transcription factor family

Basic information

Region (hg38): 2:218981087-218985184

Links

ENSG00000163497 ∙ NCBI:54738 ∙ OMIM:607150 ∙ HGNC:18562 ∙ Uniprot:Q99581 ∙ 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 FEV gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FEV 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
missense			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	14	0	2

Variants in FEV

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

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

Position	Type	Phenotype	Significance	ClinVar
2-218981681-C-T		not specified	Uncertain significance (Oct 06, 2024)
2-218981687-A-C		not specified	Uncertain significance (Feb 28, 2023)
2-218981747-G-C		not specified	Uncertain significance (Mar 11, 2024)
2-218981768-C-G		not specified	Uncertain significance (Apr 01, 2024)
2-218981774-C-G		not specified	Uncertain significance (Aug 02, 2021)
2-218981797-G-A		not specified	Uncertain significance (Jul 15, 2021)
2-218981842-A-G		not specified	Uncertain significance (Jun 07, 2024)
2-218981866-G-A		not specified	Uncertain significance (Mar 04, 2024)
2-218981890-G-T		not specified	Uncertain significance (May 14, 2024)
2-218981891-C-T		not specified	Uncertain significance (May 14, 2024)
2-218981905-A-G		not specified	Uncertain significance (Mar 13, 2023)
2-218981908-G-A		not specified	Uncertain significance (Feb 27, 2024)
2-218981957-G-A		not specified	Uncertain significance (Dec 10, 2024)
2-218981970-C-A			Benign (Jun 29, 2018)
2-218981971-G-T		not specified	Uncertain significance (Jul 19, 2022)
2-218982031-T-G		not specified	Uncertain significance (Oct 20, 2024)
2-218982039-G-C		not specified	Uncertain significance (Apr 17, 2024)
2-218982049-T-C		not specified	Uncertain significance (Aug 30, 2022)
2-218982127-C-T		not specified	Uncertain significance (Nov 11, 2024)
2-218982130-C-T		not specified	Uncertain significance (Dec 03, 2021)
2-218982446-C-CT			Benign (Apr 19, 2019)
2-218984237-G-T		not specified	Uncertain significance (Dec 03, 2021)
2-218984261-A-G		not specified	Uncertain significance (Mar 29, 2023)
2-218984266-G-C		not specified	Uncertain significance (Jul 12, 2022)
2-218984268-G-T		not specified	Uncertain significance (Mar 19, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FEV	protein_coding	protein_coding	ENST00000295727	3	4571

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00811	0.803	125323	0	3	125326	0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.43	52	90.1	0.577	0.00000403	1492
Missense in Polyphen		26	46.805	0.5555		568
Synonymous	0.908	34	41.4	0.820	0.00000196	496
Loss of Function	1.02	4	6.90	0.580	2.97e-7	86

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000113	0.00000884
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Functions as a transcriptional regulator. According to PubMed:12761502, it functions as a transcriptional repressor. Functions in the differentiation and the maintenance of the central serotonergic neurons. May play a role in cell growth. {ECO:0000269|PubMed:12761502}.
• Disease: DISEASE: Note=A chromosomal aberration involving FEV is found in Ewing tumors. Translocation t(2;21;22)(q23;q22;q12) that forms a EWSR1-FEV fusion protein with a potential oncogenic activity. {ECO:0000269|PubMed:9121764}.
• Pathway: Transcriptional misregulation in cancer - Homo sapiens (human);Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways (Consensus)

Recessive Scores

• pRec: 0.192

Haploinsufficiency Scores

• pHI: 0.195
• ghis: 0.482

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fev
• Phenotype: cellular phenotype; homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms 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); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: fev
• Affected structure: ventral wall of dorsal aorta
• Phenotype tag: abnormal
• Phenotype quality: decreased process quality

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;transcription by RNA polymerase II;positive regulation of gene expression;cell differentiation;neuron maturation;neuron fate specification;negative regulation of nucleic acid-templated transcription
• Cellular component: nucleus;nuclear speck
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription factor activity;transcription corepressor activity;sequence-specific DNA binding