ZNF536
Basic information
Region (hg38): 19:30224891-30713586
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 ZNF536 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 | 11 | |||||
missense | 60 | 68 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 0 | |||||
Total | 0 | 0 | 62 | 13 | 6 |
Variants in ZNF536
This is a list of pathogenic ClinVar variants found in the ZNF536 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-30443572-G-A | not specified | Uncertain significance (Dec 01, 2022) | ||
19-30443576-G-A | not specified | Uncertain significance (Feb 27, 2023) | ||
19-30443606-C-T | not specified | Uncertain significance (Jun 24, 2022) | ||
19-30443727-C-G | not specified | Uncertain significance (Mar 15, 2024) | ||
19-30443762-A-G | not specified | Uncertain significance (Jun 07, 2023) | ||
19-30443782-G-C | not specified | Uncertain significance (Oct 10, 2023) | ||
19-30443815-G-A | not specified | Uncertain significance (Feb 15, 2023) | ||
19-30443816-C-A | not specified | Uncertain significance (Feb 15, 2023) | ||
19-30443823-G-C | not specified | Uncertain significance (Mar 15, 2024) | ||
19-30443835-G-C | not specified | Likely benign (Apr 07, 2023) | ||
19-30443962-C-A | not specified | Uncertain significance (Oct 27, 2021) | ||
19-30444152-G-C | not specified | Uncertain significance (Dec 03, 2021) | ||
19-30444178-G-T | not specified | Uncertain significance (Jan 23, 2024) | ||
19-30444198-G-C | not specified | Uncertain significance (May 21, 2024) | ||
19-30444284-C-A | not specified | Uncertain significance (May 07, 2024) | ||
19-30444289-C-A | not specified | Uncertain significance (Apr 09, 2024) | ||
19-30444337-A-G | not specified | Uncertain significance (Feb 14, 2024) | ||
19-30444365-T-G | not specified | Uncertain significance (Apr 07, 2023) | ||
19-30444560-G-A | not specified | Uncertain significance (Jul 14, 2023) | ||
19-30444562-C-T | not specified | Uncertain significance (Jul 14, 2021) | ||
19-30444572-G-T | not specified | Uncertain significance (Sep 20, 2023) | ||
19-30444577-G-T | Neurodevelopmental disorder | Uncertain significance (Jan 31, 2022) | ||
19-30444587-C-T | not specified | Uncertain significance (Mar 15, 2024) | ||
19-30444802-C-T | not specified | Uncertain significance (Dec 27, 2023) | ||
19-30444860-G-T | not specified | Uncertain significance (Nov 22, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ZNF536 | protein_coding | protein_coding | ENST00000355537 | 4 | 485249 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.00 | 0.000417 | 125741 | 0 | 6 | 125747 | 0.0000239 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.40 | 630 | 824 | 0.764 | 0.0000550 | 8528 |
Missense in Polyphen | 205 | 403.2 | 0.50844 | 4126 | ||
Synonymous | 0.0400 | 382 | 383 | 0.997 | 0.0000297 | 2603 |
Loss of Function | 5.06 | 3 | 35.6 | 0.0843 | 0.00000153 | 448 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.0000998 | 0.0000992 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000366 | 0.0000352 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May be involved in transcriptional regulation. Recognizes and binds 2 copies of the core DNA sequence 5'-CCCCCA- 3'.;
Recessive Scores
- pRec
- 0.110
Intolerance Scores
- loftool
- 0.0816
- rvis_EVS
- -1.57
- rvis_percentile_EVS
- 3.2
Haploinsufficiency Scores
- pHI
- 0.121
- hipred
- Y
- hipred_score
- 0.809
- ghis
- 0.553
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.262
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Zfp536
- Phenotype
- homeostasis/metabolism phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); respiratory system phenotype;
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;negative regulation of neuron differentiation;negative regulation of retinoic acid receptor signaling pathway
- Cellular component
- nucleus
- Molecular function
- RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;retinoic acid-responsive element binding;metal ion binding