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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: MBTD1 ENSG00000011258

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Description

mbt domain containing 1 [Source:HGNC Symbol;Acc:19866]

Gene Synonyms

FLJ20055, SA49P01

Location

Chromosome 17: 49,254,786-49,337,524 reverse strand.

GRCh37:CM000679.1

About this gene

This gene has 7 transcripts (splice variants) and 10 paralogues.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000586178.1	MBTD1-001	5382	628aa	ENSP00000468304.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS11581	Q05BQ5	NM_017643.2	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,
ENST00000415868.1	MBTD1-202	5099	628aa	ENSP00000403946.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS11581	Q05BQ5	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000376381.2	MBTD1-201	1885	430aa	ENSP00000365561.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q05BQ5	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000405860.3	MBTD1-003	3224	169aa	ENSP00000386072.3	Nonsense mediated decay		Q05BQ5	-	-
ENST00000586898.1	MBTD1-004	534	89aa	ENSP00000467622.1	Nonsense mediated decay		K7EQ11	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000593259.1	MBTD1-005	550	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000591270.1	MBTD1-002	2163	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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Summary

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