Description

presenilin 1 [Source:HGNC Symbol;Acc:HGNC:9508]

Synonyms

AD3, FAD, PS1, S182

Location
Gene

This transcript is a product of gene ENSG00000080815

This gene has 25 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDbpProteinBiotypeCCDSUniProtRefSeqFlags
PSEN1-001ENST000003245016078467 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS9812A0A024R6A3 E7ES96 G3V2G7
G3V4M0 G3V4P4 P49768
PSEN1-001
NM_000021
NP_000012
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS CIAPPRIS candidate principal isoform [01-09-2014]
Glossary entry for APPRIS
APPRIS website
PSEN1-003ENST000003941643046463 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS9813E7ES96 G3V2B1 G3V3P0
G3V3Z0 G3V449 G3V499
G3V519 G3V5B1 H0YM52
P49768 PSEN1-003
-TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS CI3APPRIS candidate principal isoform (CCDS) [01-09-2014]
Glossary entry for APPRIS
APPRIS website
PSEN1-002ENST000003577102776463 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS9813E7ES96 G3V2B1 G3V3P0
G3V3Z0 G3V449 G3V499
G3V519 G3V5B1 H0YM52
P49768 PSEN1-002
NM_007318
NP_015557
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS CI3APPRIS candidate principal isoform (CCDS) [01-09-2014]
Glossary entry for APPRIS
APPRIS website
PSEN1-005ENST000004067684062375 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E7ES96 PSEN1-005 -TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
PSEN1-004ENST000003941571249184 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V2G7 G3V4M0 G3V4P4
P49768 PSEN1-004
-TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
PSEN1-027ENST000005575111230409 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V2G7 G3V4M0 G3V4P4
P49768 PSEN1-027
-TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
PSEN1-021ENST00000555254754155 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V2G7 G3V4M0 G3V4P4
PSEN1-021
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PSEN1-016ENST00000553719712147 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V2B1 G3V3P0 G3V3Z0
G3V449 G3V499 G3V519
G3V5B1 H0YM52 PSEN1-016
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PSEN1-028ENST00000560005699109 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V2B1 G3V3P0 G3V449
G3V519 G3V5B1 H0YM52
PSEN1-028
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PSEN1-011ENST0000055606661258 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V5B1 PSEN1-011 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PSEN1-012ENST0000055359959192 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V2B1 G3V3P0 G3V449
G3V519 G3V5B1 PSEN1-012
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:4

TSL4:The best supporting EST for this transcript is flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PSEN1-020ENST00000554131591109 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V4M0 G3V4P4 PSEN1-020
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PSEN1-015ENST0000055729357699 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V4M0 PSEN1-015 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PSEN1-007ENST0000055686457463 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V3P0 G3V449 G3V5B1
PSEN1-007
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PSEN1-013ENST00000557356571135 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V2B1 G3V3P0 G3V3Z0
G3V449 G3V519 G3V5B1
H0YM52 PSEN1-013
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:4

TSL4:The best supporting EST for this transcript is flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PSEN1-008ENST0000055703755562 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V3P0 G3V5B1 PSEN1-008
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:4

TSL4:The best supporting EST for this transcript is flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PSEN1-014ENST0000055695155291 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V2B1 G3V3P0 G3V449
G3V5B1 PSEN1-014
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PSEN1-009ENST0000055653355092 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V2B1 G3V3P0 G3V449
G3V519 G3V5B1 PSEN1-009
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PSEN1-026ENST0000055601144243 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G3V490 PSEN1-026 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PSEN1-006ENST000005553861484374 aa
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-G3V2B1 G3V3P0 G3V3Z0
G3V449 G3V499 G3V519
G3V5B1 H0YM52 P49768
PSEN1-006
-TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PSEN1-024ENST000005538551254378 aa
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-G3V2G7 G3V4M0 G3V4P4
P49768 PSEN1-024
-TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PSEN1-029ENST0000055936179557 aa
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-H0YNU4 PSEN1-029 -TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PSEN1-019ENST00000553447572No protein
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
-PSEN1-019 -TSL:4

TSL4:The best supporting EST for this transcript is flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PSEN1-022ENST00000555867876No protein
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
-PSEN1-022 -TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

PSEN1-023ENST00000554995592No protein
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
-PSEN1-023 -TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Statistics

Exons: 12 Coding exons: 10 Transcript length: 6,078 bps Translation length: 467 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS9812

Uniprot

This transcript corresponds to the following Uniprot identifiers: P49768

Transcript Support Level

1

Ensembl version

ENST00000324501.7

Type

Known protein coding

Prediction Method

Transcript where the Ensembl genebuild transcript and the Vega manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript-based displays