ELF5

E74 like ETS transcription factor 5, the group of ETS transcription factor family

Basic information

Region (hg38): 11:34478791-34525193

Links

ENSG00000135374

∙ NCBI:2001 ∙ OMIM:605169 ∙ HGNC:3320 ∙ Uniprot:Q9UKW6 ∙ 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 ELF5 gene.

not_specified (36 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ELF5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001422.4. 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						0
missense			39 clinvar			39
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	39	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ELF5	protein_coding	protein_coding	ENST00000312319	7	35013

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000869	0.986	125709	0	39	125748	0.000155

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0153	145	146	0.996	0.00000782	1764
Missense in Polyphen		52	58.236	0.89292		693
Synonymous	-0.450	61	56.7	1.08	0.00000343	449
Loss of Function	2.19	8	18.0	0.444	9.53e-7	190

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000583	0.0000583
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000324	0.000323
European (Non-Finnish)	0.0000794	0.0000791
Middle Eastern	0.0000544	0.0000544
South Asian	0.000687	0.000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Transcriptionally activator that may play a role in regulating the later stages of keratinocytes terminal differentiation. {ECO:0000269|PubMed:10506207}.;
Pathway: Prolactin signaling pathway - Homo sapiens (human) (Consensus)

Recessive Scores

pRec: 0.131

Intolerance Scores

loftool: 0.821
rvis_EVS: -0.54
rvis_percentile_EVS: 20.26

Haploinsufficiency Scores

pHI: 0.309
hipred: N
hipred_score: 0.285
ghis: 0.510

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.189

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Elf5
Phenotype: reproductive system phenotype; 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); embryo 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: ectodermal cell fate commitment;regulation of transcription by RNA polymerase II;transcription by RNA polymerase II;cell population proliferation;cell differentiation;somatic stem cell population maintenance;negative regulation of cell differentiation;positive regulation of transcription by RNA polymerase II;mammary gland epithelial cell differentiation
Cellular component: nucleus;cytoplasm
Molecular function: RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific