ZNF835
Basic information
Region (hg38): 19:56661980-56671783
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | 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) | ||
19-56663877-G-A | not specified | Uncertain significance (Feb 03, 2022) | ||
19-56663904-G-A | not specified | Uncertain significance (Jan 23, 2024) | ||
19-56663935-C-T | not specified | Uncertain significance (Dec 21, 2022) | ||
19-56663938-C-G | not specified | Uncertain significance (Jun 28, 2023) | ||
19-56663958-C-A | not specified | Uncertain significance (Dec 21, 2022) | ||
19-56663959-C-T | not specified | Uncertain significance (Dec 21, 2022) | ||
19-56663995-C-A | not specified | Uncertain significance (Nov 03, 2023) | ||
19-56664084-C-G | not specified | Uncertain significance (Apr 25, 2022) | ||
19-56664085-T-C | not specified | Uncertain significance (Jun 23, 2021) | ||
19-56664106-G-A | not specified | Uncertain significance (Jan 30, 2024) | ||
19-56664130-T-C | not specified | Uncertain significance (Oct 04, 2022) | ||
19-56664172-A-C | not specified | Uncertain significance (Jan 26, 2022) | ||
19-56664212-T-C | Likely benign (Aug 01, 2024) | |||
19-56664226-G-C | not specified | Uncertain significance (Mar 26, 2024) | ||
19-56664227-G-C | not specified | Uncertain significance (Feb 06, 2023) | ||
19-56664276-C-A | not specified | Uncertain significance (May 31, 2024) | ||
19-56664314-C-G | not specified | Uncertain significance (Mar 28, 2024) | ||
19-56664316-G-T | not specified | Uncertain significance (Mar 07, 2023) | ||
19-56664358-C-T | not specified | Uncertain significance (Apr 23, 2024) | ||
19-56664379-C-T | not specified | Uncertain significance (Sep 22, 2022) | ||
19-56664549-G-A | not specified | Uncertain significance (Dec 20, 2023) | ||
19-56664563-G-C | not specified | Uncertain significance (Jun 29, 2023) | ||
19-56664582-A-G | not specified | Uncertain significance (Sep 15, 2021) | ||
19-56664607-C-A | not specified | Uncertain significance (Dec 22, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ZNF835 | protein_coding | protein_coding | ENST00000537055 | 1 | 9132 |
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 | |
---|---|---|---|---|---|---|
Missense | 0.739 | 361 | 403 | 0.896 | 0.0000311 | 3476 |
Missense in Polyphen | 128 | 137.95 | 0.92784 | 1303 | ||
Synonymous | 2.55 | 145 | 190 | 0.764 | 0.0000171 | 1054 |
Loss of Function |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | ||
East Asian | ||
Finnish | ||
European (Non-Finnish) | ||
Middle Eastern | ||
South Asian | ||
Other |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | High |
Cancer | Medium | Medium | Medium |
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