ELOB

elongin B, the group of Elongin complex

Basic information

Region (hg38): 16:2771414-2777289

Previous symbols: [ "TCEB2" ]

Links

ENSG00000103363 ∙ NCBI:6923 ∙ OMIM:600787 ∙ HGNC:11619 ∙ Uniprot:Q15370 ∙ 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 ELOB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ELOB 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			14			14
Total	0	0	19	1	0

Variants in ELOB

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

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

Position	Type	Phenotype	Significance	ClinVar
16-2771477-G-T		not specified	Uncertain significance (Oct 02, 2023)
16-2771483-A-G		not specified	Uncertain significance (Dec 27, 2022)
16-2771486-G-A		not specified	Uncertain significance (Oct 22, 2021)
16-2771494-A-G		not specified	Uncertain significance (Feb 22, 2023)
16-2771495-C-G		not specified	Uncertain significance (Apr 06, 2023)
16-2771495-C-T		not specified	Uncertain significance (Jun 29, 2023)
16-2771543-C-G		not specified	Uncertain significance (Feb 17, 2023)
16-2771563-G-T		not specified	Uncertain significance (Sep 09, 2024)
16-2771578-G-A		not specified	Uncertain significance (Sep 20, 2023)
16-2771582-T-C		not specified	Uncertain significance (Aug 17, 2022)
16-2771584-G-A		not specified	Uncertain significance (Dec 14, 2023)
16-2771585-T-C		not specified	Uncertain significance (May 25, 2022)
16-2771588-G-T		not specified	Uncertain significance (May 24, 2023)
16-2771593-T-C		not specified	Uncertain significance (Sep 20, 2023)
16-2771997-A-G		not specified	Uncertain significance (Dec 14, 2023)
16-2772001-C-A		not specified	Uncertain significance (Sep 17, 2021)
16-2772046-C-T		not specified	Uncertain significance (Feb 12, 2024)
16-2772059-C-T			Likely benign (Mar 01, 2022)
16-2772079-T-C		not specified	Uncertain significance (Apr 01, 2024)
16-2775456-C-T		not specified	Uncertain significance (Sep 29, 2023)
16-2777013-C-T		not specified	Uncertain significance (Jan 21, 2025)
16-2777110-G-C		not specified	Uncertain significance (Jan 22, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ELOB	protein_coding	protein_coding	ENST00000262306	5	5884

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0918	0.778	125685	0	2	125687	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.815	74	96.5	0.767	0.00000540	1050
Missense in Polyphen		6	15.365	0.39051		212
Synonymous	-1.54	53	40.5	1.31	0.00000259	312
Loss of Function	1.14	2	4.66	0.429	1.96e-7	68

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)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
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) (PubMed:7638163). In embryonic stem cells, the elongin BC complex is recruited by EPOP to Polycomb group (PcG) target genes in order generate genomic region that display both active and repressive chromatin properties, an important feature of pluripotent stem cells (By similarity). {ECO:0000250|UniProtKB:P62869, ECO:0000269|PubMed:7638163}.
• Pathway: Renal cell carcinoma - Homo sapiens (human);HIF-1 signaling pathway - Homo sapiens (human);Ubiquitin mediated proteolysis - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Dual hijack model of Vif in HIV infection;Type 2 papillary renal cell carcinoma;Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha;Regulation of Hypoxia-inducible Factor (HIF) by oxygen;Cellular response to hypoxia;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;Host Interactions of HIV factors;HIV Infection;RNA Polymerase II Pre-transcription Events;Cellular responses to stress;Post-translational protein modification;Formation of RNA Pol II elongation complex ;Metabolism of proteins;RNA Polymerase II Transcription;Infectious disease;HIF-2-alpha transcription factor network;Immune System;RNA Polymerase II Transcription Elongation;Adaptive Immune System;Hypoxic and oxygen homeostasis regulation of HIF-1-alpha;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation;Cellular responses to external stimuli;TP53 Regulates Transcription of DNA Repair Genes;Neddylation;Transcriptional Regulation by TP53;Vif-mediated degradation of APOBEC3G (Consensus)

Recessive Scores

• pRec: 0.203

Intolerance Scores

• rvis_EVS: 0.19
• rvis_percentile_EVS: 66.82

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.581
• ghis: 0.526

Essentials

• essential_gene_gene_trap: E

Mouse Genome Informatics

• Gene name: Elob

Gene ontology

• Biological process: transcription by RNA polymerase II;transcription elongation from RNA polymerase II promoter;protein ubiquitination;post-translational protein modification;regulation of transcription from RNA polymerase II promoter in response to hypoxia;protein-containing complex assembly
• Cellular component: nucleoplasm;cytosol;VCB complex;Cul2-RING ubiquitin ligase complex;Cul5-RING ubiquitin ligase complex;elongin complex
• Molecular function: protein binding;ubiquitin protein ligase binding