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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	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000415868.1	MBTD1-202	5099	628aa	ENSP00000403946.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS11581	Q05BQ5	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000376381.2	MBTD1-201	1885	430aa	ENSP00000365561.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q05BQ5	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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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