Transcript: ENST00000555386.1 PSEN1-006

Description

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

Gene Synonyms

AD3, FAD, PS-1, PS1, PSNL1, S182

Location

Chromosome 14: 73,614,728-73,685,997 forward strand.

About this transcript

This transcript has 11 exons, is annotated with 21 domains and features, is associated with 32023 variant alleles and maps to 454 oligo probes.

Gene

This transcript is a product of gene ENSG00000080815.14 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000324501.5	PSEN1-001	6078	467aa	ENSP00000326366.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9812	E7ES96 G3V2G7 G3V4M0 G3V4P4 P49768	NM_007318.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000406768.1	PSEN1-005	4062	375aa	ENSP00000385948.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E7ES96	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000394164.1	PSEN1-003	3046	463aa	ENSP00000377719.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9813	E7ES96 G3V2B1 G3V3P0 G3V3Z0 G3V449 G3V499 G3V519 G3V5B1 H0YM52 P49768	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000344094.3	PSEN1-202	2856	378aa	ENSP00000339523.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V2G7 G3V4M0 G3V4P4 P49768	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000357710.4	PSEN1-002	2776	463aa	ENSP00000350342.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9813	E7ES96 G3V2B1 G3V3P0 G3V3Z0 G3V449 G3V499 G3V519 G3V5B1 H0YM52 P49768	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000261970.3	PSEN1-201	2590	409aa	ENSP00000261970.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V2G7 G3V4M0 G3V4P4 P49768	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000394157.3	PSEN1-004	1249	184aa	ENSP00000377712.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V2G7 G3V4M0 G3V4P4 P49768	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000557511.1	PSEN1-027	1230	409aa	ENSP00000451429.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V2G7 G3V4M0 G3V4P4 P49768	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000555254.1	PSEN1-021	754	155aa	ENSP00000450652.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V2G7 G3V4M0 G3V4P4	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000553719.1	PSEN1-016	712	147aa	ENSP00000451674.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V2B1 G3V3P0 G3V3Z0 G3V449 G3V499 G3V519 G3V5B1 H0YM52	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000560005.2	PSEN1-028	699	109aa	ENSP00000453466.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V2B1 G3V3P0 G3V449 G3V519 G3V5B1 H0YM52	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000556066.1	PSEN1-011	612	58aa	ENSP00000452267.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V5B1	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000553599.1	PSEN1-012	591	91aa	ENSP00000452477.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V2B1 G3V3P0 G3V449 G3V519 G3V5B1	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000554131.1	PSEN1-020	591	109aa	ENSP00000451915.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V4M0 G3V4P4	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000557293.1	PSEN1-015	576	99aa	ENSP00000451880.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V4M0	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000556864.1	PSEN1-007	574	63aa	ENSP00000451588.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V3P0 G3V449 G3V5B1	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000557356.1	PSEN1-013	571	135aa	ENSP00000451498.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V2B1 G3V3P0 G3V3Z0 G3V449 G3V519 G3V5B1 H0YM52	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000557037.1	PSEN1-008	555	62aa	ENSP00000451347.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V3P0 G3V5B1	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000556951.1	PSEN1-014	552	91aa	ENSP00000450551.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V2B1 G3V3P0 G3V449 G3V5B1	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000556533.1	PSEN1-009	550	92aa	ENSP00000452128.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V2B1 G3V3P0 G3V449 G3V519 G3V5B1	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000556011.1	PSEN1-026	442	42aa	ENSP00000451662.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V490	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000555386.1	PSEN1-006	1484	374aa	ENSP00000450845.1	Nonsense mediated decay		G3V2B1 G3V3P0 G3V3Z0 G3V449 G3V499 G3V519 G3V5B1 H0YM52 P49768	-	-
ENST00000553855.1	PSEN1-024	1254	378aa	ENSP00000452242.1	Nonsense mediated decay		G3V2G7 G3V4M0 G3V4P4 P49768	-	-
ENST00000559361.1	PSEN1-029	795	57aa	ENSP00000454156.1	Nonsense mediated decay		H0YNU4	-	-
ENST00000553447.2	PSEN1-019	572	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000555867.1	PSEN1-022	876	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000554995.1	PSEN1-023	592	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Statistics

Exons: 11, Coding exons: 9, Transcript length: 1,484 bps, Translation length: 374 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: P49768

Version

ENST00000555386.1

Type

Nonsense mediated decay

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000414072 (version 1)

Favourite species

All species

Recent locations

Transcript: ENST00000555386.1 PSEN1-006

Summary