ZNF713
Basic information
Region (hg38): 7:55887455-55942530
Links
Phenotypes
GenCC
Source:
- autism (Limited), mode of inheritance: AD
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 ZNF713 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 | 11 | 12 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 11 | 1 | 0 |
Variants in ZNF713
This is a list of pathogenic ClinVar variants found in the ZNF713 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-55923172-C-T | not specified | Uncertain significance (Sep 07, 2022) | ||
| 7-55923668-A-G | not specified | Likely benign (Aug 08, 2022) | ||
| 7-55939014-A-G | not specified | Uncertain significance (Apr 25, 2022) | ||
| 7-55939115-G-C | not specified | Uncertain significance (Jun 24, 2022) | ||
| 7-55939237-A-C | not specified | Uncertain significance (Apr 18, 2023) | ||
| 7-55939276-C-T | not specified | Uncertain significance (Jul 26, 2022) | ||
| 7-55939279-C-T | not specified | Uncertain significance (Apr 05, 2023) | ||
| 7-55939293-C-G | not specified | Uncertain significance (Nov 03, 2023) | ||
| 7-55939531-A-G | not specified | Uncertain significance (Jan 24, 2024) | ||
| 7-55939619-A-G | not specified | Uncertain significance (Jun 17, 2024) | ||
| 7-55939626-G-A | not specified | Uncertain significance (Feb 21, 2024) | ||
| 7-55939645-G-A | not specified | Uncertain significance (Mar 19, 2024) | ||
| 7-55939671-C-G | not specified | Uncertain significance (Mar 23, 2022) | ||
| 7-55939759-G-A | not specified | Uncertain significance (Jul 05, 2023) | ||
| 7-55939851-A-G | not specified | Uncertain significance (Jun 16, 2024) | ||
| 7-55939943-G-T | not specified | Uncertain significance (Apr 30, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ZNF713 | protein_coding | protein_coding | ENST00000429591 | 4 | 54750 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00000435 | 0.850 | 125689 | 0 | 58 | 125747 | 0.000231 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.01 | 188 | 231 | 0.813 | 0.0000114 | 2886 |
| Missense in Polyphen | 73 | 76.392 | 0.95559 | 903 | ||
| Synonymous | 1.25 | 67 | 81.3 | 0.824 | 0.00000428 | 735 |
| Loss of Function | 1.44 | 11 | 17.5 | 0.629 | 8.00e-7 | 231 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000240 | 0.000239 |
| Ashkenazi Jewish | 0.000497 | 0.000496 |
| East Asian | 0.000435 | 0.000435 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000230 | 0.000229 |
| Middle Eastern | 0.000435 | 0.000435 |
| South Asian | 0.000425 | 0.000425 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May be involved in transcriptional regulation.;
- Disease
- DISEASE: Note=A 7p11.2 folate-sensitive fragile site, FRA7A, has been identified in 2 unrelated families diagnosed with an autistic disorder. FRA7A is associated with a CGG-repeat expansion in a ZNF713 5'-intron. In the first family, the expanded allele contained about 450 CGG-repeats. It showed hypermethylation and reduced ZNF713 expression. In the second family, 3 autistic siblings exhibited a heterozygous expansion of about 70 repeats, corresponding to premutations, which were partially or mosaically methylated. Mitotic instability of the premutation was observed in one affected sibling. In this family, ZNF713 tends to be up- regulated. It has been suggested that ZNF713 misregulation in the brain might be involved in the pathogenicity of autistic disorder (PubMed:25196122). {ECO:0000269|PubMed:25196122}.;
- Pathway
- Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription
(Consensus)
Intolerance Scores
- loftool
- rvis_EVS
- -0.85
- rvis_percentile_EVS
- 11.06
Haploinsufficiency Scores
- pHI
- 0.118
- hipred
- N
- hipred_score
- 0.112
- ghis
- 0.590
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.117
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Low | Low |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Medium | Low | Medium |
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