ELOA

elongin A, the group of Elongin complex

Basic information

Region (hg38): 1:23743448-23762059

Previous symbols: [ "TCEB3" ]

Links

ENSG00000011007 ∙ NCBI:6924 ∙ OMIM:600786 ∙ HGNC:11620 ∙ Uniprot:Q14241 ∙ 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 ELOA gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ELOA 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			49	2		51
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	51	2	1

Variants in ELOA

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

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

Position	Type	Phenotype	Significance	ClinVar
1-23743486-G-C		not specified	Uncertain significance (Aug 01, 2024)
1-23743496-T-G		not specified	Uncertain significance (Jun 21, 2023)
1-23743514-A-G		not specified	Uncertain significance (Feb 12, 2025)
1-23743534-G-C		not specified	Uncertain significance (Apr 09, 2024)
1-23749076-C-T		not specified	Uncertain significance (May 26, 2023)
1-23749849-G-C		not specified	Uncertain significance (Jan 18, 2025)
1-23750862-A-G		not specified	Uncertain significance (Sep 16, 2021)
1-23750891-A-G		not specified	Uncertain significance (May 05, 2023)
1-23750901-G-A		not specified	Uncertain significance (Nov 21, 2024)
1-23750904-A-G		not specified	Uncertain significance (Mar 07, 2025)
1-23750916-A-C		not specified	Uncertain significance (Feb 13, 2024)
1-23750937-A-G		not specified	Uncertain significance (Oct 01, 2024)
1-23750970-G-A		not specified	Likely benign (Jan 04, 2024)
1-23751012-T-C		not specified	Uncertain significance (Apr 19, 2023)
1-23751015-C-T		not specified	Uncertain significance (Jul 20, 2021)
1-23751020-C-G		not specified	Uncertain significance (Sep 12, 2024)
1-23751036-A-G		not specified	Uncertain significance (Dec 15, 2022)
1-23751102-C-T		not specified	Uncertain significance (Jan 21, 2025)
1-23751131-C-A		not specified	Uncertain significance (May 09, 2023)
1-23751232-G-T		not specified	Uncertain significance (Oct 10, 2023)
1-23751275-G-T		not specified	Uncertain significance (Apr 08, 2024)
1-23751318-T-C		not specified	Uncertain significance (May 17, 2023)
1-23751332-A-G		not specified	Uncertain significance (May 28, 2023)
1-23751333-A-G		not specified	Uncertain significance (May 17, 2023)
1-23751337-G-C		not specified	Uncertain significance (Jun 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ELOA	protein_coding	protein_coding	ENST00000418390	11	18905

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000301	125719	0	14	125733	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.79	320	424	0.755	0.0000227	5187
Missense in Polyphen		36	92.12	0.39079		1108
Synonymous	0.200	163	166	0.980	0.00000950	1526
Loss of Function	5.71	1	40.0	0.0250	0.00000272	459

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)	0.000115	0.000114
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: SIII, also known as elongin, is a general transcription elongation factor that increases the RNA polymerase II transcription elongation past template-encoded arresting sites. Subunit A is transcriptionally active and its transcription activity is strongly enhanced by binding to the dimeric complex of the SIII regulatory subunits B and C (elongin BC complex). {ECO:0000269|PubMed:8654961}.
• Pathway: VEGFA-VEGFR2 Signaling Pathway;MET in type 1 papillary renal cell carcinoma;Disease;Gene expression (Transcription);Formation of HIV-1 elongation complex containing HIV-1 Tat;Tat-mediated elongation of the HIV-1 transcript;HIV Transcription Elongation;HIV elongation arrest and recovery;Formation of HIV elongation complex in the absence of HIV Tat;Pausing and recovery of HIV elongation;Generic Transcription Pathway;Tat-mediated HIV elongation arrest and recovery;Pausing and recovery of Tat-mediated HIV elongation;Transcription of the HIV genome;Late Phase of HIV Life Cycle;HIV Life Cycle;HIV Infection;RNA Polymerase II Pre-transcription Events;Formation of RNA Pol II elongation complex ;RNA Polymerase II Transcription;Infectious disease;RNA Polymerase II Transcription Elongation;TP53 Regulates Transcription of DNA Repair Genes;Transcriptional Regulation by TP53 (Consensus)

Recessive Scores

• pRec: 0.127

Intolerance Scores

• rvis_EVS: 0.96
• rvis_percentile_EVS: 90.17

Haploinsufficiency Scores

• pHI: 0.108
• hipred: Y
• hipred_score: 0.633
• ghis: 0.488

Essentials

• essential_gene_gene_trap: H

Mouse Genome Informatics

• Gene name: Eloa
• 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); growth/size/body region phenotype; cellular phenotype; liver/biliary system phenotype; embryo 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); 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); 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)

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;transcription by RNA polymerase II;transcription elongation from RNA polymerase II promoter
• Cellular component: extracellular space;nucleoplasm;elongin complex
• Molecular function: protein binding