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

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Gene: psen1 ENSDARG00000004870

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Description

presenilin 1 [Source:NCBI gene (formerly Entrezgene);Acc:30221]

Location

Chromosome 17: 51,206,225-51,224,800 reverse strand.

GRCz11:CM002901.2

About this gene

This gene has 4 transcripts (splice variants), 200 orthologues, 1 paralogue and is associated with 48 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	UniProt Match	Flags
ENSDART00000166687.3	psen1-203	2350	456aa	ENSDARP00000136264.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	F1Q8Y6	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, APPRIS P4: Where the APPRIS core modules are unable to choose a clear principal CDS and there is more than one variant with a distinct (but consecutive) CCDS identifiers, APPRIS selects the longest CCDS isoform as the principal variant. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P4,
ENSDART00000149864.3	psen1-201	2417	455aa	ENSDARP00000124467.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	F8W381	APPRIS ALT1: For genes in which the APPRIS core modules are unable to choose a clear principal isoform, the ALT1 is the candidate transcript(s) models that is conserved in at least three tested species. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS ALT1,
ENSDART00000185749.1	psen1-204	1864	456aa	ENSDARP00000146226.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	F1Q8Y6	APPRIS P4: Where the APPRIS core modules are unable to choose a clear principal CDS and there is more than one variant with a distinct (but consecutive) CCDS identifiers, APPRIS selects the longest CCDS isoform as the principal variant. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P4,
ENSDART00000150089.2	psen1-202	589	50aa	ENSDARP00000124616.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,

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Summary

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