Transcript: ENST00000347364.3 MKKS-001

Description

McKusick-Kaufman syndrome [Source:HGNC Symbol;Acc:7108]

Gene Synonyms

BBS6, HMCS, KMS, MKS

Location

About this transcript

This transcript has 6 exons, is annotated with 10 domains and features, is associated with 14263 variant alleles and maps to 508 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000347364.3	MKKS-001	6714	570aa	ENSP00000246062.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13111	B7Z3W9 Q9NPJ1	NM_170784.2	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000399054.2	MKKS-002	2663	570aa	ENSP00000382008.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13111	B7Z3W9 Q9NPJ1	NM_018848.3	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000609375.1	MKKS-003	882	63aa	ENSP00000477297.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q9HB66	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,

Summary

Statistics

Exons: 6, Coding exons: 4, Transcript length: 6,714 bps, Translation length: 570 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9NPJ1

CCDS

This transcript is a member of the Human CCDS set: CCDS13111

Version

ENST00000347364.3

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:	OTTHUMT00000077991 (version 3)

GENCODE basic gene

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