ZNF511-PRAP1

protein-coding

ZNF511-PRAP1 readthrough

Gene summary

This locus represents naturally occurring readthrough transcription between the neighboring ZNF511 (zinc finger protein 511) and PRAP1 (proline-rich acidic protein 1) genes on chromosome 10. The putative readthrough transcript may encode a fusion protein that shares sequence identity with each individual gene product and may be involved in the regulation of gene promoters, particularly those found on transfected plasmids. [provided by RefSeq, Apr 2017]

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:14

Top phenotype

Inborn genetic diseases

Max pathogenic AF

—

Genomic locus

chr10:133,309,410-133,352,529

External References & Databases

Ensembl (ENSG00000283496)

NCBI Gene (104326056)

HGNC:38088

GenCC

ClinVar (ZNF511-PRAP1)

Transcript & Mutation Effects

hg38 • Region Span ~43.1 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 ZNF511-PRAP1 variants in ClinVar

2 Conditions Cataloged

Inborn genetic diseasesTotal: 23

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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			14 clinvar			14
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	14	0	0	14

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001396060.1	RefSeq	NP_001382989.1	9	Standard
ENST00000368554.8	Ensembl	ENSP00000357542.5	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

nucleic acid binding

dbNSFP Gene Annotations

Source: dbNSFP