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
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 CI2APPRIS candidate principal isoform (longest CCDS)
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
-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
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
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 CIAPPRIS candidate principal isoform
Glossary entry for APPRIS
APPRIS website
PSEN1-005ENST000004067684062375 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E7ES96 -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
-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
-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
-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
-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
-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 -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
-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 -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 -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
-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
-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 -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
-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
-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 -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
-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
-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 -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.
---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.
---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.
---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.

Protein domains for ENSP00000451498.1

Transcript-based displays