ZNF687
Basic information
Region (hg38): 1:151281618-151292176
Links
Phenotypes
GenCC
Source:
- Paget disease of bone 6 (Limited), mode of inheritance: AD
- Paget disease of bone 6 (Limited), mode of inheritance: Unknown
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Paget disease of bone 6 | AD | Oncologic | The condition can involve malignant giant cell tumors (GCT) of the bone arising from within the Paget bone lesions, and awareness may allow early detection and management | Musculoskeletal; Oncologic | 26849110 |
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 ZNF687 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 | 105 | 10 | 116 | |||
missense | 230 | 245 | ||||
nonsense | 2 | |||||
start loss | 0 | |||||
frameshift | 4 | |||||
inframe indel | 9 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 5 | 6 | 1 | 12 | ||
non coding | 20 | 22 | ||||
Total | 0 | 0 | 245 | 133 | 20 |
Variants in ZNF687
This is a list of pathogenic ClinVar variants found in the ZNF687 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-151286307-A-G | not specified | Uncertain significance (Oct 12, 2021) | ||
1-151286308-C-A | not specified | Uncertain significance (Aug 12, 2021) | ||
1-151286309-C-T | Likely benign (Jan 30, 2025) | |||
1-151286360-G-A | Likely benign (Apr 21, 2023) | |||
1-151286367-G-A | not specified | Uncertain significance (Mar 22, 2023) | ||
1-151286378-T-C | Likely benign (May 16, 2023) | |||
1-151286430-G-A | Uncertain significance (Oct 17, 2022) | |||
1-151286458-C-T | not specified | Uncertain significance (Apr 07, 2023) | ||
1-151286499-T-G | not specified | Uncertain significance (Mar 04, 2023) | ||
1-151286502-G-T | not specified | Uncertain significance (Dec 17, 2021) | ||
1-151286510-C-T | Likely benign (May 09, 2024) | |||
1-151286515-C-T | not specified | Uncertain significance (Nov 08, 2024) | ||
1-151286516-A-G | ZNF687-related disorder | Likely benign (Dec 27, 2023) | ||
1-151286518-C-T | not specified | Uncertain significance (Apr 03, 2023) | ||
1-151286519-G-A | Likely benign (Feb 22, 2023) | |||
1-151286535-G-T | Uncertain significance (Mar 12, 2024) | |||
1-151286538-A-T | not specified | Uncertain significance (May 24, 2023) | ||
1-151286567-C-T | ZNF687-related disorder | Benign (Jan 31, 2024) | ||
1-151286576-T-C | Likely benign (Jan 15, 2023) | |||
1-151286579-GG-AC | Uncertain significance (Mar 12, 2024) | |||
1-151286607-G-A | Uncertain significance (Dec 07, 2022) | |||
1-151286612-C-T | Likely benign (Dec 10, 2022) | |||
1-151286625-G-A | Uncertain significance (Jul 12, 2022) | |||
1-151286637-G-A | Benign/Likely benign (Jan 07, 2024) | |||
1-151286655-C-T | Uncertain significance (Nov 03, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ZNF687 | protein_coding | protein_coding | ENST00000324048 | 8 | 10563 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.971 | 0.0290 | 125730 | 0 | 18 | 125748 | 0.0000716 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.81 | 609 | 748 | 0.814 | 0.0000443 | 7961 |
Missense in Polyphen | 149 | 257.17 | 0.57939 | 2750 | ||
Synonymous | -1.37 | 325 | 295 | 1.10 | 0.0000168 | 2716 |
Loss of Function | 4.52 | 5 | 33.0 | 0.152 | 0.00000164 | 411 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000244 | 0.000242 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000970 | 0.0000879 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.000104 | 0.0000980 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May be involved in transcriptional regulation.;
- Disease
- DISEASE: Paget disease of bone 6 (PDB6) [MIM:616833]: An autosomal dominant form of Paget disease, a disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. PDB6 is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant cell tumor of bone. {ECO:0000269|PubMed:26849110}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Recessive Scores
- pRec
- 0.133
Intolerance Scores
- loftool
- 0.382
- rvis_EVS
- -0.81
- rvis_percentile_EVS
- 12.08
Haploinsufficiency Scores
- pHI
- 0.331
- hipred
- Y
- hipred_score
- 0.572
- ghis
- 0.518
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.963
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Zfp687
- Phenotype
Gene ontology
- Biological process
- regulation of transcription by RNA polymerase II
- Cellular component
- nucleoplasm;cytosol
- Molecular function
- DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;metal ion binding