ZNF7

zinc finger protein 7, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 8:144827518-144847509

Links

ENSG00000147789 ∙ NCBI:7553 ∙ OMIM:194531 ∙ HGNC:13139 ∙ Uniprot:P17097 ∙ 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 ZNF7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF7 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			36	1		37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	1	0

Variants in ZNF7

This is a list of pathogenic ClinVar variants found in the ZNF7 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-144829515-C-T		not specified	Uncertain significance (Oct 13, 2023)
8-144829517-C-T		not specified	Uncertain significance (Nov 25, 2024)
8-144829560-A-G		not specified	Uncertain significance (Dec 16, 2021)
8-144829565-G-A		not specified	Uncertain significance (Sep 29, 2022)
8-144829595-G-T		not specified	Uncertain significance (Jan 06, 2023)
8-144837407-C-G		not specified	Uncertain significance (Jan 23, 2024)
8-144837441-G-A		not specified	Uncertain significance (Jun 18, 2021)
8-144837453-G-A		not specified	Uncertain significance (Dec 21, 2023)
8-144837461-C-A		not specified	Uncertain significance (May 22, 2023)
8-144841361-C-T		not specified	Uncertain significance (Jun 29, 2023)
8-144841365-T-G		not specified	Uncertain significance (Dec 31, 2023)
8-144841385-C-T		not specified	Uncertain significance (Aug 27, 2024)
8-144841393-G-A		not specified	Uncertain significance (Oct 08, 2024)
8-144841426-A-G		not specified	Uncertain significance (Nov 21, 2024)
8-144841465-C-G		not specified	Uncertain significance (Sep 30, 2021)
8-144841496-T-G		not specified	Uncertain significance (Jul 26, 2024)
8-144841526-G-T		not specified	Uncertain significance (Apr 19, 2023)
8-144841540-G-A		not specified	Uncertain significance (Apr 06, 2024)
8-144841561-T-C		not specified	Uncertain significance (Sep 18, 2024)
8-144841639-G-A		not specified	Uncertain significance (Jul 18, 2024)
8-144841657-C-G		not specified	Uncertain significance (Feb 10, 2022)
8-144841679-C-T		not specified	Uncertain significance (Apr 04, 2024)
8-144841683-A-C		not specified	Uncertain significance (Dec 01, 2022)
8-144841715-A-G		not specified	Likely benign (Nov 18, 2022)
8-144841804-T-C		not specified	Likely benign (Oct 30, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF7	protein_coding	protein_coding	ENST00000528372	4	20046

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.10e-7	0.973	125675	0	73	125748	0.000290

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.227	364	376	0.967	0.0000197	4571
Missense in Polyphen		129	155.43	0.82998		1887
Synonymous	-1.38	159	138	1.15	0.00000753	1245
Loss of Function	2.09	15	26.7	0.563	0.00000122	341

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000243	0.000242
Ashkenazi Jewish	0.000496	0.000496
East Asian	0.000326	0.000326
Finnish	0.000555	0.000554
European (Non-Finnish)	0.000352	0.000352
Middle Eastern	0.000326	0.000326
South Asian	0.000163	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Recessive Scores

• pRec: 0.0980

Intolerance Scores

• loftool: 0.838
• rvis_EVS: -1.04
• rvis_percentile_EVS: 7.8

Haploinsufficiency Scores

• pHI: 0.168
• hipred: N
• hipred_score: 0.174
• ghis: 0.567

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.669

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp7

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;multicellular organism development
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;metal ion binding