Transcript: ENST00000506240.1 EVC-005

Description

Ellis van Creveld syndrome [Source:HGNC Symbol;Acc:3497]

Gene Synonyms

DWF-1, EVC1, EVCL

Location

Chromosome 4: 5,795,241-5,799,132 forward strand.

About this transcript

This transcript has 2 exons, is associated with 2505 variant alleles and maps to 66 oligo probes.

Gene

This transcript is a product of gene ENSG00000072840.8 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000382674.2	EVC-201	7063	992aa	ENSP00000372120.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS3383	P57679 Q4W5A3 Q4W5F2	-	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,
ENST00000264956.6	EVC-001	6431	992aa	ENSP00000264956.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS3383	P57679 Q4W5A3 Q4W5F2	NM_153717.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000509451.1	EVC-002	1960	535aa	ENSP00000426774.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PCN4 Q4W5A3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000515113.1	EVC-006	586	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000514919.1	EVC-004	523	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000506240.1	EVC-005	588	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Statistics

Exons: 2, Coding exons: 0, Transcript length: 588 bps,

Version

ENST00000506240.1

Type

Retained intron

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000358878 (version 1)

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Transcript: ENST00000506240.1 EVC-005

Summary