ZNF536

zinc finger protein 536, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:30224891-30713586

Links

ENSG00000198597NCBI:9745OMIM:618037HGNC:29025Uniprot:O15090AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF536 gene.

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
7
clinvar
4
clinvar
11
missense
60
clinvar
6
clinvar
2
clinvar
68
nonsense
1
clinvar
1
start loss
0
frameshift
1
clinvar
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)2330812
19-30443576-G-A not specified Uncertain significance (Feb 27, 2023)2468975
19-30443606-C-T not specified Uncertain significance (Jun 24, 2022)2368638
19-30443727-C-G not specified Uncertain significance (Mar 15, 2024)3258589
19-30443762-A-G not specified Uncertain significance (Jun 07, 2023)2558726
19-30443782-G-C not specified Uncertain significance (Oct 10, 2023)3196540
19-30443815-G-A not specified Uncertain significance (Feb 15, 2023)2484012
19-30443816-C-A not specified Uncertain significance (Feb 15, 2023)2484013
19-30443823-G-C not specified Uncertain significance (Mar 15, 2024)3258590
19-30443835-G-C not specified Likely benign (Apr 07, 2023)2534795
19-30443962-C-A not specified Uncertain significance (Oct 27, 2021)2257742
19-30444152-G-C not specified Uncertain significance (Dec 03, 2021)2264139
19-30444178-G-T not specified Uncertain significance (Jan 23, 2024)3196547
19-30444198-G-C not specified Uncertain significance (May 21, 2024)3258592
19-30444284-C-A not specified Uncertain significance (May 07, 2024)3258587
19-30444289-C-A not specified Uncertain significance (Apr 09, 2024)3258583
19-30444337-A-G not specified Uncertain significance (Feb 14, 2024)3196548
19-30444365-T-G not specified Uncertain significance (Apr 07, 2023)2535435
19-30444560-G-A not specified Uncertain significance (Jul 14, 2023)2612086
19-30444562-C-T not specified Uncertain significance (Jul 14, 2021)2353740
19-30444572-G-T not specified Uncertain significance (Sep 20, 2023)3196531
19-30444577-G-T Neurodevelopmental disorder Uncertain significance (Jan 31, 2022)1701856
19-30444587-C-T not specified Uncertain significance (Mar 15, 2024)3258588
19-30444802-C-T not specified Uncertain significance (Dec 27, 2023)3196532
19-30444860-G-T not specified Uncertain significance (Nov 22, 2021)2262125

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ZNF536protein_codingprotein_codingENST00000355537 4485249
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.000.000417125741061257470.0000239
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.406308240.7640.00005508528
Missense in Polyphen205403.20.508444126
Synonymous0.04003823830.9970.00002972603
Loss of Function5.06335.60.08430.00000153448

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.00009980.0000992
East Asian0.00005440.0000544
Finnish0.000.00
European (Non-Finnish)0.00003660.0000352
Middle Eastern0.00005440.0000544
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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