CHKB-CPT1B CHKB-CPT1B readthrough (NMD candidate) [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHKB-CPT1Bprovided by HGNC
Official Full Name: CHKB-CPT1B readthrough (NMD candidate)provided by HGNC
Primary source: HGNC:HGNC:41998
See related: Ensembl:ENSG00000254413 AllianceGenome:HGNC:41998
Gene type: ncRNA
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CPT1B; CPT1-M; CPTI-M; CHKL-CPT1B
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]
Expression: Broad expression in heart (RPKM 47.4), testis (RPKM 36.6) and 24 other tissues See more
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Genomic context

Location:: 22q13.33

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (50568861..50582999, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (51079388..51093527, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (51007290..51021428, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Variant between CPT1B and CHKB associated with susceptibility to narcolepsy. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

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General gene information

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Markers

MARC_4143-4144:996679424:1 (e-PCR)
- UniSTS:269332

G65458 (e-PCR)
- UniSTS:166426

MARC_16689-16690:1017862088:1 (e-PCR)
- UniSTS:268074

SHGC-34107 (e-PCR)
- UniSTS:65068

G20256 (e-PCR)
- UniSTS:59212

A005A09 (e-PCR)
- UniSTS:59213

STS-T55238 (e-PCR)
- UniSTS:43089

D22S970E (e-PCR)
- UniSTS:33441

CPT1B_7768 (e-PCR)
- UniSTS:466127

D22S975E (e-PCR)
- UniSTS:88828

Other Names

CHKB-CPT1B readthrough (non-protein coding)
CPT I
Carnitine palmitoyltransferase 1B
Carnitine palmitoyltransferase I-like protein
choline kinase-like, carnitine palmitoyltransferase 1B (muscle) transcription unit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.