ZNF502

zinc finger protein 502, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 3:44712643-44723831

Links

ENSG00000196653 ∙ NCBI:91392 ∙ ∙ HGNC:23718 ∙ Uniprot:Q8TBZ5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF502 gene.

• not_specified (63 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF502 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001134442.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			60	3		63
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	60	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF502	protein_coding	protein_coding	ENST00000296091	2	11189

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.16e-8	0.593	125671	0	71	125742	0.000282

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.618	252	281	0.896	0.0000136	3639
Missense in Polyphen		76	102.42	0.74204		1313
Synonymous	1.36	76	92.7	0.820	0.00000425	944
Loss of Function	1.11	14	19.2	0.728	0.00000104	285

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000413	0.000413
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.000217	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000361	0.000352
Middle Eastern	0.000217	0.000217
South Asian	0.000294	0.000294
Other	0.000490	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Intolerance Scores

• loftool: 0.670
• rvis_EVS: 0.4
• rvis_percentile_EVS: 76.31

Haploinsufficiency Scores

• pHI: 0.136
• hipred: N
• hipred_score: 0.112
• ghis: 0.494

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.950

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Zfp72

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;positive regulation by host of viral release from host cell;positive regulation by host of viral process
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;metal ion binding