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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Paralogues
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: MCPH1 ENSG00000147316

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Description

microcephalin 1 [Source:HGNC Symbol;Acc:6954]

Gene Synonyms

BRIT1, FLJ12847, MCT

Location

Chromosome 8: 6,264,113-6,501,144 forward strand.

GRCh37:CM000670.1

About this gene

This gene has 7 transcripts (splice variants) and is associated with 4 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000344683.5	MCPH1-001	3158	835aa	ENSP00000342924.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS43689	Q6RA50 Q6RAB6 Q6RAP8 Q6RAZ4 Q6RB60 Q6RBC6 Q6RBJ2 Q6RBQ8 Q6RBX4 Q6W7E5	NM_024596.3	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,
ENST00000519480.1	MCPH1-002	2917	610aa	ENSP00000430962.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS55190	Q6RAZ4 Q6RB60 Q6RBC6 Q6RBJ2 Q6RBQ8 Q6RBX4 Q8NEM0	NM_001172574.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000522905.1	MCPH1-003	2049	562aa	ENSP00000430768.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS55191	Q6RAZ4 Q6RBC6 Q6RBJ2 Q6RBQ8 Q6RBX4 Q8NEM0	NM_001172575.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000521175.1	MCPH1-005	777	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000521129.1	MCPH1-004	540	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000519221.1	MCPH1-007	539	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000522020.1	MCPH1-006	470	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Summary

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