ZBTB7C

zinc finger and BTB domain containing 7C, the group of Zinc fingers C2H2-type|BTB domain containing

Basic information

Region (hg38): 18:48026671-48410752

Previous symbols: [ "ZBTB36" ]

Links

ENSG00000184828 ∙ NCBI:201501 ∙ OMIM:616591 ∙ HGNC:31700 ∙ Uniprot:A1YPR0 ∙ 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 ZBTB7C gene.

• Inborn genetic diseases (30 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB7C 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	2	3
missense			30		1	31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	1	3

Variants in ZBTB7C

This is a list of pathogenic ClinVar variants found in the ZBTB7C region.

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

Position	Type	Phenotype	Significance	ClinVar
18-48029321-G-A		not specified	Uncertain significance (Aug 16, 2021)
18-48029328-C-T		not specified	Uncertain significance (Nov 08, 2021)
18-48029330-G-A		not specified	Uncertain significance (Feb 05, 2024)
18-48029377-G-A			Benign/Likely benign (Nov 01, 2022)
18-48029385-C-T		not specified	Uncertain significance (Aug 16, 2021)
18-48029405-C-T		not specified	Uncertain significance (Mar 01, 2024)
18-48029412-C-G		not specified	Uncertain significance (Mar 12, 2024)
18-48029413-G-T		not specified	Uncertain significance (Oct 02, 2023)
18-48029435-G-A			Benign (May 21, 2018)
18-48029439-G-A		not specified	Uncertain significance (Jul 14, 2021)
18-48029458-T-C			Benign (Nov 16, 2018)
18-48029535-T-C		not specified	Uncertain significance (Dec 19, 2022)
18-48029553-C-T		not specified	Uncertain significance (Dec 22, 2023)
18-48029589-G-C		not specified	Uncertain significance (Mar 22, 2023)
18-48029610-C-T		not specified	Uncertain significance (Feb 14, 2023)
18-48029639-C-T		not specified	Uncertain significance (Jul 26, 2022)
18-48029666-G-C		not specified	Uncertain significance (Dec 28, 2022)
18-48029769-C-T		not specified	Uncertain significance (May 27, 2022)
18-48029787-C-T		not specified	Uncertain significance (Apr 08, 2023)
18-48039916-C-T		not specified	Uncertain significance (Feb 05, 2024)
18-48039925-T-G		not specified	Uncertain significance (Sep 22, 2023)
18-48039948-G-C		not specified	Uncertain significance (Apr 11, 2023)
18-48040035-A-G		not specified	Uncertain significance (Oct 26, 2022)
18-48040114-C-T		not specified	Uncertain significance (Jun 01, 2022)
18-48040115-G-A			Benign (May 25, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBTB7C	protein_coding	protein_coding	ENST00000588982	2	384080

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.161	0.836	125731	0	13	125744	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.32	313	386	0.811	0.0000249	4045
Missense in Polyphen		82	135.03	0.60726		1432
Synonymous	0.412	173	180	0.961	0.0000137	1226
Loss of Function	2.60	4	14.8	0.271	7.10e-7	178

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000125	0.000123
Ashkenazi Jewish	0.000105	0.0000992
East Asian	0.0000609	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000932	0.0000791
Middle Eastern	0.0000609	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be a tumor suppressor gene. {ECO:0000269|PubMed:9427755}.

Recessive Scores

• pRec: 0.117

Intolerance Scores

• loftool: 0.378
• rvis_EVS: -0.18
• rvis_percentile_EVS: 40.56

Haploinsufficiency Scores

• pHI: 0.323
• hipred: Y
• hipred_score: 0.809
• ghis: 0.457

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.218

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zbtb7c
• Phenotype: cellular phenotype

Gene ontology

• Biological process: negative regulation of cell population proliferation;positive regulation of fat cell differentiation;positive regulation of transcription by RNA polymerase II;regulation of RNA polymerase II regulatory region sequence-specific DNA binding
• Cellular component: cellular_component;nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;molecular_function;nucleic acid binding;metal ion binding