C1QTNF3-AMACR

ncRNA

C1QTNF3-AMACR readthrough (NMD candidate)

Gene summary

This locus represents naturally occurring read-through transcription between the neighboring C1q and tumor necrosis factor related protein 3 (C1QTNF3) and alpha-methylacyl-CoA racemase (AMACR) genes on chromosome 5. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus not likely to produce a protein product. [provided by RefSeq, Mar 2011]

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:12B:7

Top phenotype

Alpha-methylacyl-CoA racemase deficiency

Max pathogenic AF

—

Genomic locus

chr5:33,987,174-34,124,528

External References & Databases

Ensembl (ENSG00000273294)

NCBI Gene (100534612)

HGNC:49198

GenCC

ClinVar (C1QTNF3-AMACR)

Transcript & Mutation Effects

hg38 • Region Span ~137.4 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 C1QTNF3-AMACR variants in ClinVar

11 Conditions Cataloged

Alpha-methylacyl-CoA racemase deficiencyTotal: 310

not providedTotal: 75

Inborn genetic diseasesTotal: 21

not specifiedTotal: 19

Congenital bile acid synthesis defect 4Total: 8

Oculocutaneous albinismTotal: 8

Congenital bile acid synthesis defect 4;Alpha-methylacyl-CoA racemase deficiencyTotal: 5

AMACR-related conditionTotal: 4

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						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			12 clinvar	7 clinvar		19
Total	0	0	12	7	0	19

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 1 of 1 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
ENST00000382079.3	Ensembl	ENSP00000371511.3	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

extracellular region
collagen trimer

dbNSFP Gene Annotations

Source: dbNSFP