ZNF195

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

Basic information

Region (hg38): 11:3339261-3379222

Links

ENSG00000005801OMIM:602187HGNC:12986Uniprot:O14628AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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
clinvar
1
clinvar
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)3819887
11-3359359-T-C not specified Uncertain significance (Feb 16, 2023)2486522
11-3359528-A-T not specified Uncertain significance (Aug 20, 2024)3474476
11-3359551-C-A not specified Uncertain significance (Jan 09, 2024)3194265
11-3359672-C-T not specified Uncertain significance (Feb 05, 2024)3194264
11-3359684-C-T not specified Uncertain significance (Apr 24, 2023)2570484
11-3359758-C-T not specified Uncertain significance (Sep 04, 2024)3474477
11-3359783-G-T not specified Uncertain significance (Jan 10, 2023)3194263
11-3359825-G-T not specified Uncertain significance (May 31, 2023)2553326
11-3359827-C-G not specified Uncertain significance (Dec 17, 2023)3194262
11-3359904-G-C not specified Uncertain significance (Dec 14, 2023)2262389
11-3359965-C-T not specified Uncertain significance (Dec 28, 2022)2340899
11-3359980-G-A not specified Uncertain significance (Feb 16, 2023)2486019
11-3360016-T-C not specified Uncertain significance (Feb 28, 2024)3194267
11-3360113-G-A not specified Uncertain significance (May 18, 2023)2548743
11-3360122-C-T not specified Uncertain significance (Jan 08, 2025)3819883
11-3360158-A-G not specified Uncertain significance (Aug 04, 2023)2615942
11-3360184-C-T not specified Uncertain significance (Dec 05, 2022)2402700
11-3360224-G-A not specified Uncertain significance (Dec 23, 2024)3819884
11-3360308-G-A not specified Uncertain significance (Aug 07, 2024)2358097
11-3360517-T-C not specified Uncertain significance (Apr 26, 2024)3335083
11-3360559-G-C not specified Uncertain significance (Nov 09, 2021)2259501
11-3360561-C-A not specified Uncertain significance (Aug 02, 2021)2208778
11-3360759-C-T not specified Uncertain significance (Jun 11, 2024)2290077
11-3360779-G-A not specified Uncertain significance (Apr 04, 2024)3335082

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ZNF195protein_codingprotein_codingENST00000399602 639958
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.003870.864125313011253140.00000399
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.172523100.8130.00001464179
Missense in Polyphen104146.890.7081980
Synonymous0.1651141160.9810.000006111084
Loss of Function1.2759.130.5474.87e-7107

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000008810.00000881
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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