Gene: NOTCH3 ENSG00000074181

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

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Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000263388.2	NOTCH3-001	8071	2321aa	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000601011.1	NOTCH3-002	3858	1286aa	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	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	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		-	-	-

Summary

Name

NOTCH3 (HGNC Symbol)

UniProtKB

This gene has proteins that correspond to the following UniProtKB identifiers: Q9UM47

CCDS

This gene is a member of the Human CCDS set: CCDS12326.1

Ensembl version

ENSG00000074181.4

Other assemblies

This gene maps to 15,159,633-15,200,981 in GRCh38 coordinates.

Gene type

Protein coding

Annotation method

Annotation for this gene includes both automatic annotation from Ensembl and Havana manual curation, see article.

Alternative genes

This gene corresponds to the following database identifiers:

Havana gene:	OTTHUMG00000183217 (version 1)

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Gene: NOTCH3 ENSG00000074181

Summary