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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: NOTCH3 ENSG00000074181

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Description

notch 3 [Source:HGNC Symbol;Acc:7883]

Gene Synonyms

CADASIL, CASIL, IMF2

Location

Chromosome 19: 15,270,444-15,311,792 reverse strand.

GRCh37:CM000681.1

About this gene

This gene has 6 transcripts (splice variants), 14 paralogues and is associated with 8 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000263388.2	NOTCH3-001	8071	2321aa	ENSP00000263388.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12326	Q9UM47	NM_000435.2	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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000601011.1	NOTCH3-002	3858	1286aa	ENSP00000473138.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		M0R3C9	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000597756.1	NOTCH3-006	559	177aa	ENSP00000468879.1	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,
ENST00000595514.1	NOTCH3-005	564	117aa	ENSP00000470661.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000600841.1	NOTCH3-004	748	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000595045.1	NOTCH3-003	558	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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