CELP carboxyl ester lipase pseudogene [Homo sapiens (human)] - Gene

Summary

Official Symbol: CELPprovided by HGNC
Official Full Name: carboxyl ester lipase pseudogeneprovided by HGNC
Primary source: HGNC:HGNC:1849
See related: Ensembl:ENSG00000170827 AllianceGenome:HGNC:1849
Gene type: pseudo
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CELL; cell1; cell2; cell3
Expression: Restricted expression toward pancreas (RPKM 10770.7) See more
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Genomic context

Location:: 9q34.13

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (133082539..133087091)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (145276137..145301213)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (135957926..135962478)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A hybrid allele between CEL and CELP was found to increase susceptibility to chronic pancreatitis in a case-control study of patients of European ancestry, but we failed to detect the CEL-HYB allele in three Asian populations. An alternative hybrid allele was identified in all 3 Asian populations, but was not associated with chronic pancreatitis.
Title: No Association Between CEL-HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations.
Expression of CEL-HYB in originating from a crossover between CEL and its neighboring pseudogene, CELP is associated with chronic pancreatitis.
Title: A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Other Names

carboxyl ester lipase-like (bile salt-stimulated lipase-like)

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.

RNA

NR_001275.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL162417, AW582943, L14813

Related

ENST00000421286.4

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

133082539..133087091

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

145276137..145301213

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001808.1: Suppressed sequence

Description

NM_001808.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.