ZNF155
Basic information
Region (hg38): 19:43967862-43998326
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 ZNF155 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 | 32 | 35 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 32 | 3 | 0 |
Variants in ZNF155
This is a list of pathogenic ClinVar variants found in the ZNF155 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-43988548-C-T | not specified | Uncertain significance (May 03, 2023) | ||
19-43991848-A-G | not specified | Uncertain significance (Nov 09, 2021) | ||
19-43991926-G-A | not specified | Uncertain significance (Nov 18, 2022) | ||
19-43996131-G-A | not specified | Uncertain significance (Mar 17, 2023) | ||
19-43996252-C-T | not specified | Uncertain significance (Mar 20, 2023) | ||
19-43996258-T-C | not specified | Uncertain significance (Mar 07, 2023) | ||
19-43996312-A-G | not specified | Uncertain significance (Feb 05, 2024) | ||
19-43996455-G-A | not specified | Uncertain significance (Dec 17, 2023) | ||
19-43996469-T-G | not specified | Uncertain significance (Apr 26, 2024) | ||
19-43996491-G-A | not specified | Uncertain significance (Jul 08, 2022) | ||
19-43996534-A-G | not specified | Uncertain significance (Mar 24, 2023) | ||
19-43996585-G-A | not specified | Uncertain significance (Dec 22, 2023) | ||
19-43996601-T-A | not specified | Uncertain significance (Jan 26, 2023) | ||
19-43996662-T-C | not specified | Uncertain significance (Oct 10, 2023) | ||
19-43996679-G-T | not specified | Likely benign (Sep 30, 2021) | ||
19-43996699-T-A | not specified | Uncertain significance (Apr 17, 2023) | ||
19-43996707-G-T | not specified | Uncertain significance (Dec 15, 2023) | ||
19-43996734-T-C | not specified | Uncertain significance (Mar 22, 2023) | ||
19-43996800-C-T | not specified | Uncertain significance (Dec 19, 2022) | ||
19-43996855-G-T | not specified | Uncertain significance (Mar 12, 2024) | ||
19-43996893-T-A | not specified | Uncertain significance (Oct 21, 2021) | ||
19-43996899-C-G | not specified | Likely benign (Sep 29, 2023) | ||
19-43996962-G-A | not specified | Uncertain significance (Mar 17, 2023) | ||
19-43997053-G-A | not specified | Uncertain significance (Dec 14, 2021) | ||
19-43997164-G-A | not specified | Uncertain significance (Mar 29, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ZNF155 | protein_coding | protein_coding | ENST00000407951 | 4 | 30464 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
6.62e-7 | 0.0825 | 125703 | 0 | 37 | 125740 | 0.000147 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.524 | 303 | 278 | 1.09 | 0.0000137 | 3657 |
Missense in Polyphen | 97 | 92.401 | 1.0498 | 1301 | ||
Synonymous | -1.87 | 123 | 99.3 | 1.24 | 0.00000468 | 960 |
Loss of Function | -1.01 | 8 | 5.45 | 1.47 | 3.17e-7 | 60 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000123 | 0.000123 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00125 | 0.00125 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000619 | 0.0000615 |
Middle Eastern | 0.00125 | 0.00125 |
South Asian | 0.000131 | 0.000131 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: May be involved in transcriptional regulation.;
- Pathway
- Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription
(Consensus)
Recessive Scores
- pRec
- 0.0887
Intolerance Scores
- loftool
- rvis_EVS
- 0.4
- rvis_percentile_EVS
- 76.41
Haploinsufficiency Scores
- pHI
- 0.102
- hipred
- N
- hipred_score
- 0.112
- ghis
- 0.454
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.210
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;DNA-binding transcription factor activity;metal ion binding