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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Paralogues
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: CCBE1 ENSG00000183287

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Description

collagen and calcium binding EGF domains 1 [Source:HGNC Symbol;Acc:29426]

Gene Synonyms

FLJ30681, KIAA1983

Location

Chromosome 18: 57,098,172-57,364,612 reverse strand.

GRCh37:CM000680.1

About this gene

This gene has 4 transcripts (splice variants) and is associated with 4 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000439986.4	CCBE1-001	6227	406aa	ENSP00000404464.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS32838	K7EQ81 Q6UXH8	NM_133459.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000398179.2	CCBE1-201	1569	135aa	ENSP00000381241.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q6UXH8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000589419.1	CCBE1-004	587	46aa	ENSP00000467710.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		K7EQ81	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000589116.1	CCBE1-002	1691	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Summary

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