ZNF835

zinc finger protein 835, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:56661980-56671783

Links

ENSG00000127903NCBI:90485HGNC:34332Uniprot:Q9Y2P0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF835 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF835 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
clinvar
2
clinvar
38
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 2 0

Variants in ZNF835

This is a list of pathogenic ClinVar variants found in the ZNF835 region.

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

Position Type Phenotype Significance ClinVar
19-56663607-G-A not specified Uncertain significance (Aug 09, 2021)2222102
19-56663877-G-A not specified Uncertain significance (Feb 03, 2022)2275294
19-56663904-G-A not specified Uncertain significance (Jan 23, 2024)3198708
19-56663935-C-T not specified Uncertain significance (Dec 21, 2022)2411851
19-56663938-C-G not specified Uncertain significance (Jun 28, 2023)2595348
19-56663958-C-A not specified Uncertain significance (Dec 21, 2022)2381450
19-56663959-C-T not specified Uncertain significance (Dec 21, 2022)2381425
19-56663995-C-A not specified Uncertain significance (Nov 03, 2023)3198707
19-56664084-C-G not specified Uncertain significance (Apr 25, 2022)3198706
19-56664085-T-C not specified Uncertain significance (Jun 23, 2021)2355754
19-56664106-G-A not specified Uncertain significance (Jan 30, 2024)3198705
19-56664130-T-C not specified Uncertain significance (Oct 04, 2022)2346931
19-56664172-A-C not specified Uncertain significance (Jan 26, 2022)2272765
19-56664212-T-C Likely benign (Aug 01, 2024)3341632
19-56664226-G-C not specified Uncertain significance (Mar 26, 2024)3259728
19-56664227-G-C not specified Uncertain significance (Feb 06, 2023)2481261
19-56664276-C-A not specified Uncertain significance (May 31, 2024)3259731
19-56664314-C-G not specified Uncertain significance (Mar 28, 2024)3259730
19-56664316-G-T not specified Uncertain significance (Mar 07, 2023)2495307
19-56664358-C-T not specified Uncertain significance (Apr 23, 2024)3198714
19-56664379-C-T not specified Uncertain significance (Sep 22, 2022)2218533
19-56664549-G-A not specified Uncertain significance (Dec 20, 2023)3198713
19-56664563-G-C not specified Uncertain significance (Jun 29, 2023)2592388
19-56664582-A-G not specified Uncertain significance (Sep 15, 2021)2379355
19-56664607-C-A not specified Uncertain significance (Dec 22, 2023)3198712

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ZNF835protein_codingprotein_codingENST00000537055 19132
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.7393614030.8960.00003113476
Missense in Polyphen128137.950.927841303
Synonymous2.551451900.7640.00001711054
Loss of Function

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

Function
FUNCTION: May be involved in transcriptional regulation.;

Intolerance Scores

loftool
rvis_EVS
0.47
rvis_percentile_EVS
78.8

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.238
ghis
0.488

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.234

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Gene ontology

Biological process
negative regulation of transcription by RNA polymerase II;positive regulation of transcription by RNA polymerase II
Cellular component
nucleoplasm
Molecular function
DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription factor activity;transcription regulatory region DNA binding;metal ion binding