Transcript: ENST00000547610.1 KMT2D-007

Description

lysine (K)-specific methyltransferase 2D [Source:HGNC Symbol;Acc:7133]

Gene Synonyms

AAD10, ALR, CAGL114, KABUK1, KMS, MLL2, MLL4, TNRC21

Location

Chromosome 12: 49,448,163-49,453,557 reverse strand.

About this transcript

This transcript has 5 exons, is annotated with 1 domain and feature, is associated with 3486 variant alleles and maps to 118 oligo probes.

Gene

This transcript is a product of gene ENSG00000167548.10 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000301067.7	KMT2D-001	19419	5537aa	ENSP00000301067.7	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS44873	F8VWW4 O14686 Q59FG6 Q6PIA1	NM_003482.3	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,
ENST00000526209.1	KMT2D-002	859	218aa	ENSP00000435714.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H0YEF2	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000547610.1	KMT2D-007	636	145aa	ENSP00000449455.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F8VWW4	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000549743.1	KMT2D-005	615	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000549799.1	KMT2D-006	530	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000552391.1	KMT2D-004	860	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000550356.1	KMT2D-003	445	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: 5, Coding exons: 4, Transcript length: 636 bps, Translation length: 145 residues

Incomplete CDS

3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete

Version

ENST00000547610.1

Type

Protein coding

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:	OTTHUMT00000408968 (version 1)

EMBL-EBI User Survey 2024

Favourite species

All species

Recent locations

Transcript: ENST00000547610.1 KMT2D-007

Summary