ZNF675
Basic information
Region (hg38): 19:23525630-23687220
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 ZNF675 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 | 33 | 33 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 33 | 0 | 0 |
Variants in ZNF675
This is a list of pathogenic ClinVar variants found in the ZNF675 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-23653429-G-T | not specified | Uncertain significance (Jun 13, 2022) | ||
19-23653440-T-C | not specified | Uncertain significance (Mar 21, 2022) | ||
19-23653444-T-C | not specified | Uncertain significance (Nov 22, 2021) | ||
19-23653583-T-G | not specified | Uncertain significance (Sep 16, 2021) | ||
19-23653645-C-G | not specified | Uncertain significance (Jul 05, 2023) | ||
19-23653689-T-C | not specified | Uncertain significance (Jun 01, 2023) | ||
19-23653720-A-C | not specified | Uncertain significance (Jul 06, 2021) | ||
19-23653723-C-T | not specified | Uncertain significance (Feb 06, 2023) | ||
19-23653744-T-G | not specified | Uncertain significance (Jun 18, 2024) | ||
19-23653759-C-T | not specified | Uncertain significance (Aug 17, 2022) | ||
19-23653776-T-C | not specified | Uncertain significance (Feb 28, 2023) | ||
19-23653782-G-A | not specified | Uncertain significance (Jul 09, 2021) | ||
19-23653782-G-C | not specified | Uncertain significance (Jan 23, 2024) | ||
19-23653789-T-C | not specified | Uncertain significance (Apr 25, 2022) | ||
19-23653806-G-A | not specified | Uncertain significance (Feb 28, 2023) | ||
19-23653834-G-A | not specified | Uncertain significance (May 11, 2022) | ||
19-23653881-C-T | not specified | Uncertain significance (Apr 26, 2023) | ||
19-23653900-A-C | not specified | Uncertain significance (Mar 20, 2024) | ||
19-23653945-G-T | not specified | Uncertain significance (Apr 25, 2023) | ||
19-23653998-T-C | not specified | Uncertain significance (Nov 07, 2022) | ||
19-23654007-T-C | not specified | Uncertain significance (Mar 01, 2024) | ||
19-23654061-T-C | not specified | Uncertain significance (Dec 06, 2022) | ||
19-23654119-T-C | not specified | Uncertain significance (Feb 06, 2024) | ||
19-23654178-C-T | not specified | Uncertain significance (Apr 12, 2022) | ||
19-23654224-A-C | not specified | Uncertain significance (Jun 21, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ZNF675 | protein_coding | protein_coding | ENST00000359788 | 4 | 161590 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.123 | 0.788 | 125116 | 0 | 3 | 125119 | 0.0000120 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.225 | 292 | 281 | 1.04 | 0.0000128 | 3752 |
Missense in Polyphen | 114 | 112.02 | 1.0176 | 1463 | ||
Synonymous | 0.404 | 93 | 98.1 | 0.948 | 0.00000451 | 962 |
Loss of Function | 1.35 | 2 | 5.39 | 0.371 | 2.28e-7 | 63 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000650 | 0.0000617 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00000900 | 0.00000882 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.000165 | 0.000164 |
dbNSFP
Source:
- Function
- FUNCTION: May be involved in transcriptional regulation. May play a role during osteoclast differentiation by modulating TRAF6 signaling activity.;
- Pathway
- Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription
(Consensus)
Recessive Scores
- pRec
- 0.0855
Intolerance Scores
- loftool
- 0.687
- rvis_EVS
- 0
- rvis_percentile_EVS
- 53.85
Haploinsufficiency Scores
- pHI
- 0.115
- hipred
- N
- hipred_score
- 0.112
- ghis
- 0.531
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- E
- gene_indispensability_score
- 1.00
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;I-kappaB kinase/NF-kappaB signaling;negative regulation of tumor necrosis factor-mediated signaling pathway;cytokine-mediated signaling pathway;negative regulation of NF-kappaB transcription factor activity;negative regulation of JUN kinase activity;bone resorption;negative regulation of osteoclast differentiation;negative regulation of JNK cascade;negative regulation of interleukin-1-mediated signaling pathway;negative regulation of transcription regulatory region DNA binding
- Cellular component
- nucleus;perinuclear region of cytoplasm
- Molecular function
- DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;zinc ion binding;ubiquitin protein ligase binding