CHKB-CPT1B

ncRNA

CHKB-CPT1B readthrough (NMD candidate)

Gene summary

The genes CHKB and CPT1B are adjacent on chromosome 22 and read-through transcripts are expressed that include exons from both loci. The read-through transcripts are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to express proteins. [provided by RefSeq, Jun 2009]

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:8U:19B:18

Top phenotype

Megaconial type congenital muscular dystrophy

Max pathogenic AF

—

Genomic locus

chr22:50,568,869-50,582,965

External References & Databases

Ensembl (ENSG00000254413)

Transcript & Mutation Effects

hg38 • Region Span ~14.1 kb

Loading mutation effect viewer...

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 CHKB-CPT1B variants in ClinVar

11 Conditions Cataloged

Megaconial type congenital muscular dystrophyTotal: 302

Inborn genetic diseasesTotal: 59

not providedTotal: 56

not specifiedTotal: 26

CPT1B-related conditionTotal: 2

Congenital Muscular Dystrophy, CHKB-relatedTotal: 2

High myopiaTotal: 1

Severe global developmental delay;SeizureTotal: 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						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)	4 clinvar	4 clinvar	19 clinvar	15 clinvar	3 clinvar	45
Total	4	4	19	15	3	45

Highest pathogenic variant AF is 0.0000197106

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 1 of 1 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
ENST00000453634.5	Ensembl	ENSP00000457031.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

phosphorylation
glycerophospholipid biosynthetic process

Molecular Function

kinase activity

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Indispensability pred.: N
Indispensability score: 0.114