ZNF510

protein-coding

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

Gene summary

This gene encodes a krueppel C2H2-type zinc-finger protein family member. The encoded protein is expressed in several cancer cell types and may be a biomarker for early diagnosis of these cancers. [provided by RefSeq, Sep 2015]

MANE transcript

NM_014930.3

Inheritance

—

ClinVar variants

U:94B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.61

Max pathogenic AF

—

Genomic locus

chr9:96,754,553-96,778,129

External References & Databases

Ensembl (ENSG00000081386)

Transcript & Mutation Effects

hg38 • Region Span ~23.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ZNF510 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 93

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014930.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			92 clinvar	7 clinvar		99
nonsense			1 clinvar			1
start loss			1 clinvar			1
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	94	7	0	101

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 29 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014930.3	RefSeq	NP_055745.1	5	MANE Select
ENST00000223428.9	Ensembl	ENSP00000223428.4	5	MANE Select
NM_001314059.2	RefSeq	NP_001300988.1	5	Standard
NM_001314060.2	RefSeq	NP_001300989.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Gene expression (Transcription)
Generic Transcription Pathway
RNA Polymerase II Transcription

Biological Process

regulation of transcription by RNA polymerase II

Molecular Function

DNA-binding transcription factor activity, RNA polymerase II-specific
DNA binding
metal ion binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000375231
Coding exons: 5
Length: 22265
Individuals with no LoFs: 125587
Homozygous LoFs: 1
Heterozygous LoFs: 160
Defined: 125748
p: 0.000640

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.557	310	339	0.915	0.0000161	4581
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0016	0.0016	notable
Latino/Admixed American	0.00058	0.00058	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00082	0.00082	rare
Finnish	0.00074	0.00074	rare
European (Non-Finnish)	0.00059	0.00059	rare
South Asian	0.00049	0.00046	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

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

Intolerance Scores

LoFtool: 0.928
RVIS EVS: 1
RVIS percentile EVS: 90.77

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.104

Gene Damage Prediction

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