Transcript: ENST00000264956.6 EVC-001

Description

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

Gene Synonyms

DWF-1, EVC1, EVCL

Location

About this transcript

This transcript has 21 exons, is annotated with 15 domains and features, is associated with 56540 variant alleles and maps to 652 oligo probes.

Gene

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	-	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: 21, Coding exons: 21, Transcript length: 6,431 bps, Translation length: 992 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: P57679

CCDS

This transcript is a member of the Human CCDS set: CCDS3383

Version

ENST00000264956.6

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000206859 (version 1)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.