BTG4

BTG anti-proliferation factor 4, the group of BTG/Tob family|MicroRNA protein coding host genes

Basic information

Region (hg38): 11:111467526-111514367

Links

ENSG00000137707 ∙ NCBI:54766 ∙ OMIM:605673 ∙ HGNC:13862 ∙ Uniprot:Q9NY30 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• female infertility (Moderate), mode of inheritance: AR
• oocyte maturation defect 8 (Limited), mode of inheritance: AR
• oocyte maturation defect 8 (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Oocyte/zygote/embryo maturation arrest 8	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Obstetric	32502391

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BTG4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BTG4 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		1	18	1		20
nonsense		1				1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	2	18	1	0

Variants in BTG4

This is a list of pathogenic ClinVar variants found in the BTG4 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-111495211-G-A		not specified	Likely benign (May 10, 2022)
11-111495236-G-C		not specified	Uncertain significance (Oct 12, 2021)
11-111495244-C-T		not specified	Uncertain significance (Nov 02, 2021)
11-111495248-C-G		not specified	Uncertain significance (Nov 27, 2024)
11-111495268-C-T		not specified	Uncertain significance (Sep 23, 2023)
11-111495269-G-A		not specified	Uncertain significance (Nov 03, 2022)
11-111495282-C-A		not specified	Uncertain significance (Feb 14, 2023)
11-111495314-C-T		not specified	Uncertain significance (Nov 06, 2023)
11-111497242-GGAAT-G		Oocyte maturation defect 8	Pathogenic (Apr 10, 2023)
11-111497300-C-T		not specified	Uncertain significance (Sep 28, 2022)
11-111497315-T-C		not specified	Uncertain significance (Jun 17, 2024)
11-111497391-A-T		not specified	Uncertain significance (Sep 26, 2024)
11-111498024-C-G		Oocyte maturation defect 8	Pathogenic (Apr 10, 2023)
11-111498035-T-A		not specified	Uncertain significance (Dec 04, 2024)
11-111498074-T-C		not specified	Uncertain significance (Jul 09, 2024)
11-111498106-T-C		not specified	Uncertain significance (Oct 27, 2022)
11-111498611-C-T		Oocyte maturation defect 8	Likely pathogenic (Apr 20, 2021)
11-111498619-T-C		not specified	Uncertain significance (Apr 04, 2023)
11-111498632-C-T		not specified	Uncertain significance (Jul 20, 2021)
11-111498643-T-C		not specified	Uncertain significance (Jun 21, 2022)
11-111498697-A-G		not specified	Uncertain significance (Aug 19, 2024)
11-111498704-G-A		Oocyte maturation defect 8	Likely pathogenic (Apr 20, 2021)
11-111498772-C-T		not specified	Uncertain significance (Jan 03, 2024)
11-111498776-T-C		Oocyte maturation defect 8	Pathogenic (Apr 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BTG4	protein_coding	protein_coding	ENST00000356018	5	44829

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.167	0.820	125724	0	12	125736	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.241	111	118	0.938	0.00000621	1490
Missense in Polyphen		39	39.59	0.9851		503
Synonymous	-0.261	44	41.9	1.05	0.00000234	389
Loss of Function	2.15	3	10.5	0.285	4.44e-7	134

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000140	0.000139
European (Non-Finnish)	0.0000618	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Shows marked antiproliferative activity, being able to induce G(1) arrest.
• Pathway: RNA degradation - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.137

Intolerance Scores

• loftool: 0.307
• rvis_EVS: -0.3
• rvis_percentile_EVS: 32.62

Haploinsufficiency Scores

• pHI: 0.217
• hipred: N
• hipred_score: 0.259
• ghis: 0.471

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.864

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Btg4

Gene ontology

• Biological process: cell cycle arrest;negative regulation of cell population proliferation;neuron differentiation;negative regulation of mitotic cell cycle
• Cellular component: cellular_component;nucleus;cytoplasm