Gene: KMT2C ENSG00000055609

Description

lysine (K)-specific methyltransferase 2C [Source:HGNC Symbol;Acc:13726]

Gene Synonyms

HALR, KIAA1506, MLL3

Location

Chromosome 7: 151,832,010-152,133,090 reverse strand.

GRCh37:CM000669.1

About this gene

This gene has 14 transcripts (splice variants), 7 paralogues and is associated with 119 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000262189.6	KMT2C-001	16862	4911aa	ENSP00000262189.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5931	H0YMU7 Q6N019 Q75MN6 Q8NEZ4	NM_170606.2	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,
ENST00000355193.2	KMT2C-201	17029	4968aa	ENSP00000347325.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H0YMU7 Q6N019 Q75MN6 Q8NEZ4	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000360104.3	KMT2C-009	11183	2441aa	ENSP00000353218.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000424877.1	KMT2C-010	5874	1524aa	ENSP00000410411.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H0Y765 Q6N019	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000485655.2	KMT2C-202	4835	116aa	ENSP00000439909.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q6N019	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000418061.1	KMT2C-015	710	236aa	ENSP00000408001.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H7C2V8	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000418673.1	KMT2C-008	682	228aa	ENSP00000403483.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000558665.1	KMT2C-017	538	179aa	ENSP00000454058.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H0YNL4	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000452749.1	KMT2C-013	479	155aa	ENSP00000410239.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9J4Z5	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000558084.1	KMT2C-018	16862	826aa	ENSP00000453752.1	Nonsense mediated decay		H0YMU7	-	-
ENST00000485241.1	KMT2C-016	479	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000473186.1	KMT2C-002	12854	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000489110.1	KMT2C-014	761	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000490130.1	KMT2C-003	641	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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Gene: KMT2C ENSG00000055609

Summary