ZNF503

zinc finger protein 503, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 10:75397830-75401764

Links

ENSG00000165655 ∙ NCBI:84858 ∙ OMIM:613902 ∙ HGNC:23589 ∙ Uniprot:Q96F45 ∙ 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 ZNF503 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF503 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				2	1	3
missense			44			44
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	44	2	1

Variants in ZNF503

This is a list of pathogenic ClinVar variants found in the ZNF503 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-75398830-G-A			Likely benign (May 01, 2022)
10-75398864-G-A		not specified	Uncertain significance (Apr 25, 2022)
10-75398916-G-T		not specified	Uncertain significance (Jan 23, 2024)
10-75398939-G-A		not specified	Uncertain significance (Feb 28, 2024)
10-75398952-C-T		not specified	Uncertain significance (Feb 11, 2022)
10-75398973-T-C		not specified	Uncertain significance (Jan 26, 2022)
10-75398991-C-T		not specified	Uncertain significance (Apr 23, 2024)
10-75399020-C-G		not specified	Uncertain significance (Jun 06, 2023)
10-75399072-G-C		not specified	Uncertain significance (Jul 15, 2021)
10-75399156-G-A		not specified	Uncertain significance (May 08, 2024)
10-75399163-G-C		not specified	Uncertain significance (May 03, 2023)
10-75399242-G-A		not specified	Uncertain significance (Feb 13, 2024)
10-75399278-G-C		not specified	Uncertain significance (Apr 23, 2024)
10-75399290-G-A		not specified	Uncertain significance (Jul 14, 2021)
10-75399332-T-C		not specified	Uncertain significance (Mar 26, 2024)
10-75399344-G-A		not specified	Uncertain significance (Jun 02, 2023)
10-75399362-C-A		not specified	Uncertain significance (Apr 25, 2022)
10-75399516-C-A		not specified	Uncertain significance (Feb 22, 2024)
10-75399572-T-C		not specified	Uncertain significance (Dec 19, 2022)
10-75399738-T-C		not specified	Uncertain significance (Jul 14, 2023)
10-75399743-C-A		not specified	Uncertain significance (Dec 14, 2021)
10-75399745-C-T			Benign (Dec 31, 2019)
10-75399788-C-A		not specified	Uncertain significance (Jan 17, 2024)
10-75399788-C-T		not specified	Uncertain significance (Dec 07, 2023)
10-75399800-T-A		not specified	Uncertain significance (May 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF503	protein_coding	protein_coding	ENST00000372524	2	4077

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.946	0.0541	123791	0	2	123793	0.00000808

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.681	349	387	0.903	0.0000203	3923
Missense in Polyphen		115	127.32	0.90327		1383
Synonymous	-3.11	252	197	1.28	0.0000125	1469
Loss of Function	3.17	1	13.6	0.0735	5.89e-7	160

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000898	0.00000894
Middle Eastern	0.00	0.00
South Asian	0.0000339	0.0000332
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function as a transcriptional repressor. {ECO:0000250}.

Recessive Scores

• pRec: 0.111

Haploinsufficiency Scores

• pHI: 0.922
• hipred: Y
• hipred_score: 0.728
• ghis: 0.641

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.889

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp503

Zebrafish Information Network

• Gene name: znf503
• Affected structure: optic fissure
• Phenotype tag: abnormal
• Phenotype quality: closure incomplete

Gene ontology

• Biological process: negative regulation of cell population proliferation;negative regulation of gene expression;neural precursor cell proliferation;G1 to G0 transition involved in cell differentiation
• Cellular component: nucleus
• Molecular function: nucleic acid binding;metal ion binding