ZNF710
Basic information
Region (hg38): 15:90001324-90082206
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 ZNF710 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 | 1 | |||||
missense | 31 | 32 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 31 | 2 | 0 |
Variants in ZNF710
This is a list of pathogenic ClinVar variants found in the ZNF710 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
15-90067207-G-A | not specified | Uncertain significance (May 17, 2023) | ||
15-90067219-G-C | not specified | Uncertain significance (Dec 27, 2023) | ||
15-90067280-G-A | not specified | Uncertain significance (May 05, 2023) | ||
15-90067355-G-C | not specified | Uncertain significance (Jul 14, 2021) | ||
15-90067433-C-T | not specified | Uncertain significance (Nov 21, 2022) | ||
15-90067471-G-A | not specified | Uncertain significance (Mar 13, 2023) | ||
15-90067486-G-A | not specified | Uncertain significance (Jun 24, 2022) | ||
15-90067550-C-T | not specified | Uncertain significance (Sep 29, 2022) | ||
15-90067556-C-A | not specified | Uncertain significance (Apr 23, 2024) | ||
15-90067573-G-A | not specified | Uncertain significance (May 03, 2023) | ||
15-90067578-C-T | Likely benign (Feb 01, 2023) | |||
15-90067603-G-A | not specified | Uncertain significance (Jun 09, 2022) | ||
15-90067633-C-T | not specified | Uncertain significance (Aug 13, 2021) | ||
15-90067642-C-T | not specified | Uncertain significance (Mar 24, 2023) | ||
15-90067654-C-T | not specified | Uncertain significance (Apr 08, 2023) | ||
15-90067660-C-T | not specified | Uncertain significance (Feb 10, 2022) | ||
15-90067682-T-G | Likely benign (Feb 01, 2023) | |||
15-90067687-G-A | not specified | Uncertain significance (May 15, 2024) | ||
15-90067712-C-T | not specified | Uncertain significance (Feb 22, 2024) | ||
15-90067802-A-C | not specified | Uncertain significance (Sep 20, 2023) | ||
15-90067813-C-A | not specified | Uncertain significance (Jul 11, 2023) | ||
15-90067817-G-C | not specified | Uncertain significance (Feb 27, 2023) | ||
15-90067876-G-A | not specified | Uncertain significance (Feb 05, 2024) | ||
15-90067892-G-A | not specified | Uncertain significance (May 13, 2024) | ||
15-90067900-G-A | not specified | Uncertain significance (May 18, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ZNF710 | protein_coding | protein_coding | ENST00000268154 | 4 | 80815 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.990 | 0.00997 | 125737 | 0 | 6 | 125743 | 0.0000239 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.42 | 305 | 449 | 0.679 | 0.0000310 | 4375 |
Missense in Polyphen | 110 | 217.31 | 0.50619 | 2115 | ||
Synonymous | 0.451 | 199 | 207 | 0.960 | 0.0000164 | 1273 |
Loss of Function | 4.02 | 2 | 22.7 | 0.0882 | 0.00000114 | 249 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000189 | 0.000183 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000177 | 0.0000176 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
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
- 0.115
Intolerance Scores
- loftool
- 0.269
- rvis_EVS
- -0.71
- rvis_percentile_EVS
- 14.78
Haploinsufficiency Scores
- pHI
- 0.156
- hipred
- Y
- hipred_score
- 0.662
- ghis
- 0.469
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.215
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Zfp710
- Phenotype
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;metal ion binding