BTG3

BTG anti-proliferation factor 3, the group of BTG/Tob family

Basic information

Region (hg38): 21:17593653-17612945

Links

ENSG00000154640 ∙ NCBI:10950 ∙ OMIM:605674 ∙ HGNC:1132 ∙ Uniprot:Q14201 ∙ 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 BTG3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BTG3 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						0
missense			15	1		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	1	0

Variants in BTG3

This is a list of pathogenic ClinVar variants found in the BTG3 region.

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

Position	Type	Phenotype	Significance	ClinVar
21-17594134-G-A		not specified	Uncertain significance (Dec 21, 2023)
21-17594154-G-A		not specified	Uncertain significance (Apr 12, 2022)
21-17594254-C-T		not specified	Uncertain significance (Jan 23, 2024)
21-17594293-G-C		not specified	Uncertain significance (May 13, 2024)
21-17594317-A-T		not specified	Uncertain significance (Jun 22, 2023)
21-17598628-G-C		not specified	Uncertain significance (May 02, 2024)
21-17598645-A-G		not specified	Uncertain significance (Feb 07, 2023)
21-17598648-G-A		not specified	Uncertain significance (Jun 24, 2022)
21-17598789-C-G		not specified	Uncertain significance (Mar 22, 2023)
21-17604154-A-G		not specified	Uncertain significance (Jul 17, 2023)
21-17604164-C-T		not specified	Uncertain significance (Mar 07, 2024)
21-17604166-G-A		not specified	Likely benign (Jan 30, 2024)
21-17604172-A-G		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
21-17604199-T-C		not specified	Uncertain significance (Mar 10, 2025)
21-17604214-G-A		not specified	Uncertain significance (Sep 17, 2021)
21-17604228-G-T		not specified	Uncertain significance (Feb 20, 2025)
21-17604257-A-G		not specified	Uncertain significance (Aug 09, 2021)
21-17604876-A-G		not specified	Uncertain significance (Mar 22, 2023)
21-17609083-T-C		not specified	Uncertain significance (Feb 08, 2025)
21-17609107-G-A		not specified	Uncertain significance (Mar 05, 2025)
21-17609117-A-C		not specified	Uncertain significance (Jul 19, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BTG3	protein_coding	protein_coding	ENST00000339775	5	19295

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.916	0.0841	125739	0	5	125744	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.86	88	153	0.576	0.00000781	1934
Missense in Polyphen		12	43.187	0.27786		542
Synonymous	0.600	47	52.5	0.895	0.00000270	554
Loss of Function	2.99	1	12.3	0.0810	6.51e-7	169

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000190	0.000185
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000881	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Overexpression impairs serum-induced cell cycle progression from the G0/G1 to S phase.
• Pathway: RNA degradation - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.133

Intolerance Scores

• loftool: 0.112
• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.25

Haploinsufficiency Scores

• pHI: 0.467
• hipred: N
• hipred_score: 0.370
• ghis: 0.564

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.802

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Btg3
• Phenotype: respiratory system phenotype; skeleton phenotype; neoplasm

Gene ontology

• Biological process: negative regulation of cell population proliferation;negative regulation of mitotic cell cycle
• Cellular component: nucleus;cytoplasm
• Molecular function: protein binding