ZNF195

zinc finger protein 195, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 11:3339261-3379222

Links

ENSG00000005801 ∙ ∙ OMIM:602187 ∙ HGNC:12986 ∙ Uniprot:O14628 ∙ 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 ZNF195 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF195 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	1		27
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	1	0

Variants in ZNF195

This is a list of pathogenic ClinVar variants found in the ZNF195 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-3359341-C-T		not specified	Uncertain significance (Jan 20, 2025)
11-3359359-T-C		not specified	Uncertain significance (Feb 16, 2023)
11-3359528-A-T		not specified	Uncertain significance (Aug 20, 2024)
11-3359551-C-A		not specified	Uncertain significance (Jan 09, 2024)
11-3359672-C-T		not specified	Uncertain significance (Feb 05, 2024)
11-3359684-C-T		not specified	Uncertain significance (Apr 24, 2023)
11-3359758-C-T		not specified	Uncertain significance (Sep 04, 2024)
11-3359783-G-T		not specified	Uncertain significance (Jan 10, 2023)
11-3359825-G-T		not specified	Uncertain significance (May 31, 2023)
11-3359827-C-G		not specified	Uncertain significance (Dec 17, 2023)
11-3359904-G-C		not specified	Uncertain significance (Dec 14, 2023)
11-3359965-C-T		not specified	Uncertain significance (Dec 28, 2022)
11-3359980-G-A		not specified	Uncertain significance (Feb 16, 2023)
11-3360016-T-C		not specified	Uncertain significance (Feb 28, 2024)
11-3360113-G-A		not specified	Uncertain significance (May 18, 2023)
11-3360122-C-T		not specified	Uncertain significance (Jan 08, 2025)
11-3360158-A-G		not specified	Uncertain significance (Aug 04, 2023)
11-3360184-C-T		not specified	Uncertain significance (Dec 05, 2022)
11-3360224-G-A		not specified	Uncertain significance (Dec 23, 2024)
11-3360308-G-A		not specified	Uncertain significance (Aug 07, 2024)
11-3360517-T-C		not specified	Uncertain significance (Apr 26, 2024)
11-3360559-G-C		not specified	Uncertain significance (Nov 09, 2021)
11-3360561-C-A		not specified	Uncertain significance (Aug 02, 2021)
11-3360759-C-T		not specified	Uncertain significance (Jun 11, 2024)
11-3360779-G-A		not specified	Uncertain significance (Apr 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF195	protein_coding	protein_coding	ENST00000399602	6	39958

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00387	0.864	125313	0	1	125314	0.00000399

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.17	252	310	0.813	0.0000146	4179
Missense in Polyphen		104	146.89	0.708		1980
Synonymous	0.165	114	116	0.981	0.00000611	1084
Loss of Function	1.27	5	9.13	0.547	4.87e-7	107

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)	0.00000881	0.00000881
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.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.0918

Intolerance Scores

• loftool: 0.513
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63.36

Haploinsufficiency Scores

• pHI: 0.576
• hipred: N
• hipred_score: 0.252
• ghis: 0.535

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.673

Gene Damage Prediction

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

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;zinc ion binding