ZNF117

zinc finger protein 117, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 7:64970663-65006687

Links

ENSG00000152926 ∙ NCBI:51351 ∙ OMIM:194624 ∙ HGNC:12897 ∙ Uniprot:Q03924 ∙ 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 ZNF117 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF117 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			26	2		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	2	0

Variants in ZNF117

This is a list of pathogenic ClinVar variants found in the ZNF117 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-64978144-T-A		not specified	Uncertain significance (Nov 10, 2024)
7-64978147-C-T		not specified	Uncertain significance (Oct 08, 2024)
7-64978178-T-C		not specified	Uncertain significance (Sep 20, 2023)
7-64978195-G-A		not specified	Uncertain significance (May 02, 2023)
7-64978229-C-T		not specified	Uncertain significance (Mar 04, 2024)
7-64978261-C-A		not specified	Likely benign (Feb 27, 2024)
7-64978351-C-T		not specified	Uncertain significance (Jun 11, 2024)
7-64978373-G-C		not specified	Uncertain significance (Aug 04, 2023)
7-64978409-G-T		not specified	Uncertain significance (Oct 26, 2021)
7-64978436-G-A		not specified	Uncertain significance (Apr 20, 2024)
7-64978440-A-T		not specified	Uncertain significance (Mar 20, 2023)
7-64978457-G-C		not specified	Uncertain significance (Jun 10, 2024)
7-64978571-T-C		not specified	Uncertain significance (Dec 04, 2024)
7-64978660-G-A		not specified	Uncertain significance (Dec 16, 2023)
7-64978670-C-T		not specified	Uncertain significance (Jun 19, 2024)
7-64978738-T-A		not specified	Uncertain significance (Oct 18, 2021)
7-64978772-G-A		not specified	Uncertain significance (Oct 19, 2024)
7-64978792-C-T		not specified	Uncertain significance (Nov 14, 2023)
7-64978808-C-T		not specified	Uncertain significance (Jul 09, 2021)
7-64978834-T-C		not specified	Uncertain significance (Oct 09, 2024)
7-64978841-T-G		not specified	Uncertain significance (Sep 01, 2021)
7-64978904-A-G		not specified	Uncertain significance (Nov 25, 2024)
7-64978942-G-T		not specified	Uncertain significance (Jun 10, 2024)
7-64978951-G-C		not specified	Uncertain significance (Dec 27, 2023)
7-64978952-T-A		not specified	Uncertain significance (Nov 14, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF117	protein_coding	protein_coding	ENST00000282869	2	34909

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.395	0.482	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.05	283	238	1.19	0.0000107	3173
Missense in Polyphen		82	68.653	1.1944		990
Synonymous	-1.31	98	82.8	1.18	0.00000382	821
Loss of Function	0.936	0	1.02	0.00	4.35e-8	12

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0833

Intolerance Scores

• loftool: 0.783
• rvis_EVS: 0.73
• rvis_percentile_EVS: 86.17

Haploinsufficiency Scores

• pHI: 0.436
• hipred: N
• hipred_score: 0.112
• ghis: 0.406

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.188

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Gene ontology

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