NPHP3-ACAD11

ncRNA

NPHP3-ACAD11 readthrough (NMD candidate)

Gene summary

This locus represents naturally occurring read-through transcription between the neighboring NPHP3 (nephronophthisis 3, adolescent) and ACAD11 (acyl-CoA dehydrogenase family, member 11) genes on chromosome 3. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011]

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:34U:122B:69

Top phenotype

Nephronophthisis

Max pathogenic AF

—

Genomic locus

chr3:132,558,142-132,722,459

External References & Databases

Ensembl (ENSG00000274810)

NCBI Gene (100532724)

HGNC:48351

GenCC

ClinVar (NPHP3-ACAD11)

Transcript & Mutation Effects

hg38 • Region Span ~164.3 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 NPHP3-ACAD11 variants in ClinVar

33 Conditions Cataloged

NephronophthisisTotal: 818

not providedTotal: 490

Nephronophthisis 3Total: 115

Renal-hepatic-pancreatic dysplasia 1Total: 112

NPHP3-related Meckel-like syndromeTotal: 97

Inborn genetic diseasesTotal: 95

not specifiedTotal: 62

Renal-hepatic-pancreatic dysplasia 1;Nephronophthisis 3;NPHP3-related Meckel-like syndromeTotal: 50

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			2 clinvar	20 clinvar	1 clinvar	23
missense		1 clinvar	68 clinvar	8 clinvar	1 clinvar	78
nonsense	4 clinvar	3 clinvar	1 clinvar			8
start loss						0
frameshift	4 clinvar	3 clinvar	1 clinvar			8
splice donor/acceptor (+/-2bp)	7 clinvar	12 clinvar	50 clinvar	34 clinvar	5 clinvar	108
Total	15	19	122	62	7	225

Highest pathogenic variant AF is 0.00244447

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
ENST00000471702.2	Ensembl	ENSP00000419763.1	13	Standard
ENST00000632629.1	Ensembl	ENSP00000488520.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Wnt Signaling in Kidney Disease

Molecular Function

microtubule motor activity

Cellular Component

kinesin complex

dbNSFP Gene Annotations

Source: dbNSFP