ZNF358
Basic information
Region (hg38): 19:7515292-7521025
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 ZNF358 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 | 5 | |||||
missense | 33 | 35 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 33 | 6 | 2 |
Variants in ZNF358
This is a list of pathogenic ClinVar variants found in the ZNF358 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-7519250-G-A | not specified | Uncertain significance (Jul 20, 2021) | ||
19-7519261-G-C | not specified | Uncertain significance (Jul 14, 2023) | ||
19-7519271-C-G | not specified | Uncertain significance (Jun 17, 2024) | ||
19-7519289-G-A | not specified | Uncertain significance (Dec 14, 2023) | ||
19-7519291-C-A | not specified | Uncertain significance (Apr 27, 2023) | ||
19-7519294-G-A | not specified | Uncertain significance (Oct 17, 2023) | ||
19-7519349-T-C | not specified | Uncertain significance (Jun 12, 2023) | ||
19-7519353-C-T | Benign (Mar 29, 2018) | |||
19-7519430-A-T | not specified | Uncertain significance (Oct 26, 2022) | ||
19-7519443-C-G | Benign (May 02, 2018) | |||
19-7519468-G-A | not specified | Uncertain significance (Apr 08, 2022) | ||
19-7519495-C-T | not specified | Uncertain significance (Dec 15, 2022) | ||
19-7519502-C-T | not specified | Uncertain significance (Apr 04, 2023) | ||
19-7519511-C-T | EBV-positive nodal T- and NK-cell lymphoma | Likely benign (-) | ||
19-7519587-C-T | Likely benign (Oct 01, 2022) | |||
19-7519603-G-T | not specified | Uncertain significance (Aug 02, 2021) | ||
19-7519619-G-A | not specified | Likely benign (Jul 14, 2021) | ||
19-7519646-C-T | not specified | Uncertain significance (Sep 06, 2022) | ||
19-7519718-C-A | not specified | Uncertain significance (Apr 30, 2024) | ||
19-7519724-G-T | not specified | Uncertain significance (Nov 27, 2023) | ||
19-7519726-C-G | not specified | Uncertain significance (Mar 26, 2024) | ||
19-7519731-C-G | not specified | Uncertain significance (Apr 20, 2024) | ||
19-7519780-C-A | not specified | Uncertain significance (Jan 16, 2024) | ||
19-7519812-C-G | not specified | Uncertain significance (Aug 02, 2023) | ||
19-7519955-C-T | not specified | Uncertain significance (Jan 19, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ZNF358 | protein_coding | protein_coding | ENST00000597229 | 1 | 5735 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.788 | 0.211 | 125731 | 0 | 4 | 125735 | 0.0000159 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.58 | 239 | 381 | 0.628 | 0.0000270 | 3623 |
Missense in Polyphen | 75 | 192.07 | 0.39049 | 1714 | ||
Synonymous | 0.0444 | 180 | 181 | 0.996 | 0.0000146 | 1260 |
Loss of Function | 2.55 | 1 | 9.48 | 0.105 | 4.77e-7 | 102 |
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) | 0.0000271 | 0.0000264 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000327 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May be involved in transcriptional regulation.;
Intolerance Scores
- loftool
- rvis_EVS
- 0.44
- rvis_percentile_EVS
- 77.8
Haploinsufficiency Scores
- pHI
- 0.186
- hipred
- Y
- hipred_score
- 0.622
- ghis
- 0.506
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.547
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Zfp358
- Phenotype
Gene ontology
- Biological process
- regulation of transcription by RNA polymerase II;stem cell population maintenance;neural tube development;embryonic forelimb morphogenesis
- Cellular component
- nucleus
- Molecular function
- DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;metal ion binding