ZFP90
Basic information
Region (hg38): 16:68530090-68576072
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 ZFP90 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 | 45 | 45 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 45 | 0 | 0 |
Variants in ZFP90
This is a list of pathogenic ClinVar variants found in the ZFP90 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
16-68558035-C-T | not specified | Uncertain significance (Jul 22, 2024) | ||
16-68558525-G-C | not specified | Uncertain significance (Dec 27, 2023) | ||
16-68558532-A-G | not specified | Uncertain significance (Aug 11, 2022) | ||
16-68563077-A-G | not specified | Uncertain significance (Jan 04, 2024) | ||
16-68563134-C-G | not specified | Uncertain significance (May 27, 2022) | ||
16-68563159-C-A | not specified | Uncertain significance (Sep 16, 2021) | ||
16-68563181-G-A | not specified | Uncertain significance (Dec 13, 2022) | ||
16-68563236-C-T | not specified | Uncertain significance (Jan 10, 2023) | ||
16-68563250-T-C | not specified | Uncertain significance (Sep 28, 2021) | ||
16-68563277-T-A | not specified | Uncertain significance (Aug 30, 2021) | ||
16-68563293-A-T | not specified | Uncertain significance (Apr 18, 2024) | ||
16-68563395-A-C | not specified | Uncertain significance (Jul 15, 2021) | ||
16-68563404-C-T | not specified | Uncertain significance (Aug 12, 2021) | ||
16-68563409-A-G | not specified | Uncertain significance (Aug 12, 2022) | ||
16-68563440-A-G | not specified | Uncertain significance (Nov 20, 2024) | ||
16-68563457-T-C | not specified | Uncertain significance (Aug 17, 2021) | ||
16-68563487-A-G | not specified | Uncertain significance (Jun 01, 2023) | ||
16-68563559-G-A | not specified | Uncertain significance (Jan 23, 2023) | ||
16-68563562-T-C | not specified | Uncertain significance (Jul 12, 2022) | ||
16-68563572-C-A | not specified | Uncertain significance (Dec 16, 2023) | ||
16-68563640-A-T | not specified | Uncertain significance (Dec 05, 2022) | ||
16-68563703-G-A | not specified | Uncertain significance (May 24, 2023) | ||
16-68563738-A-C | not specified | Uncertain significance (Jan 18, 2023) | ||
16-68563749-G-A | not specified | Uncertain significance (Oct 29, 2024) | ||
16-68563761-T-C | not specified | Uncertain significance (Mar 20, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ZFP90 | protein_coding | protein_coding | ENST00000570495 | 4 | 45983 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0317 | 0.968 | 125401 | 0 | 28 | 125429 | 0.000112 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.946 | 284 | 333 | 0.854 | 0.0000157 | 4246 |
Missense in Polyphen | 70 | 129.3 | 0.54137 | 1694 | ||
Synonymous | -0.896 | 132 | 120 | 1.10 | 0.00000583 | 1130 |
Loss of Function | 3.47 | 8 | 27.7 | 0.289 | 0.00000164 | 335 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000180 | 0.000179 |
Ashkenazi Jewish | 0.000199 | 0.000199 |
East Asian | 0.000219 | 0.000218 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000160 | 0.000114 |
Middle Eastern | 0.000219 | 0.000218 |
South Asian | 0.0000980 | 0.0000980 |
Other | 0.000166 | 0.000164 |
dbNSFP
Source:
- Function
- FUNCTION: Inhibits the transcriptional repressor activity of REST by inhibiting its binding to DNA, thereby derepressing transcription of REST target genes. {ECO:0000269|PubMed:21284946}.;
- Pathway
- Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription
(Consensus)
Intolerance Scores
- loftool
- 0.388
- rvis_EVS
- -0.27
- rvis_percentile_EVS
- 34.6
Haploinsufficiency Scores
- pHI
- 0.166
- hipred
- N
- hipred_score
- 0.346
- ghis
- 0.581
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0298
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Zfp90
- Phenotype
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;negative regulation of DNA binding;negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated
- Cellular component
- nucleus
- Molecular function
- DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;metal ion binding