ZNF510

zinc finger protein 510, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 9:96754553-96778129

Links

ENSG00000081386 ∙ NCBI:22869 ∙ OMIM:619385 ∙ HGNC:29161 ∙ Uniprot:Q9Y2H8 ∙ 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 ZNF510 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF510 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			50	4		54
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	50	4	0

Variants in ZNF510

This is a list of pathogenic ClinVar variants found in the ZNF510 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-96758817-G-T		not specified	Uncertain significance (Sep 09, 2024)
9-96758837-A-G		not specified	Uncertain significance (Aug 17, 2021)
9-96758854-T-C			Likely benign (Mar 01, 2024)
9-96758855-T-G		not specified	Uncertain significance (Oct 27, 2021)
9-96758873-C-T		not specified	Uncertain significance (Jun 10, 2022)
9-96758966-G-A		not specified	Uncertain significance (Dec 10, 2024)
9-96758990-T-C		not specified	Uncertain significance (Dec 26, 2024)
9-96758998-C-T		not specified	Uncertain significance (Nov 29, 2021)
9-96759074-T-C		not specified	Uncertain significance (Sep 01, 2021)
9-96759082-C-T		not specified	Uncertain significance (Aug 12, 2021)
9-96759083-G-A		not specified	Uncertain significance (Aug 13, 2021)
9-96759103-T-G			Likely benign (Mar 01, 2024)
9-96759109-C-G		not specified	Uncertain significance (Oct 08, 2024)
9-96759115-A-C		not specified	Uncertain significance (Oct 04, 2024)
9-96759148-T-C		not specified	Uncertain significance (Dec 12, 2024)
9-96759166-C-T		not specified	Uncertain significance (Jan 19, 2025)
9-96759170-A-G		not specified	Uncertain significance (May 10, 2024)
9-96759202-G-C		not specified	Uncertain significance (Aug 13, 2021)
9-96759208-T-C		not specified	Uncertain significance (Aug 08, 2023)
9-96759225-C-G		not specified	Uncertain significance (Aug 30, 2021)
9-96759293-C-T		not specified	Uncertain significance (Jan 02, 2025)
9-96759307-C-T		not specified	Uncertain significance (Jan 16, 2024)
9-96759352-C-T		not specified	Uncertain significance (Feb 28, 2025)
9-96759409-G-A		not specified	Uncertain significance (Jan 22, 2025)
9-96759428-T-C		not specified	Uncertain significance (Jul 14, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF510	protein_coding	protein_coding	ENST00000375231	5	22265

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.49e-8	0.915	125587	1	160	125748	0.000640

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.557	310	339	0.915	0.0000161	4581
Missense in Polyphen		87	98.126	0.88662		1309
Synonymous	-0.448	127	121	1.05	0.00000600	1156
Loss of Function	1.76	15	24.4	0.615	0.00000121	352

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00218	0.00218
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000816	0.000816
Finnish	0.000740	0.000739
European (Non-Finnish)	0.000591	0.000589
Middle Eastern	0.000816	0.000816
South Asian	0.000491	0.000457
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Intolerance Scores

• loftool: 0.928
• rvis_EVS: 1
• rvis_percentile_EVS: 90.77

Haploinsufficiency Scores

• pHI: 0.0701
• hipred: N
• hipred_score: 0.112
• ghis: 0.482

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.104

Gene Damage Prediction

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