Transcript: ENST00000437912.2 NIPA1-004

Description

non imprinted in Prader-Willi/Angelman syndrome 1 [Source:HGNC Symbol;Acc:17043]

Gene Synonyms

FSP3, MGC35570, SPG6

Location

Chromosome 15: 23,043,279-23,100,005 reverse strand.

About this transcript

This transcript has 5 exons, is annotated with 13 domains and features, is associated with 30581 variant alleles and maps to 399 oligo probes.

Gene

This transcript is a product of gene ENSG00000170113.11 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000337435.4	NIPA1-001	6567	329aa	ENSP00000337452.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS10011	Q3SYP4 Q7RTP0	NM_144599.4	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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000437912.2	NIPA1-004	7613	254aa	ENSP00000393962.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS45190	Q3SYP4 Q7RTP0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000538684.1	NIPA1-201	2797	159aa	ENSP00000440957.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q3SYP4	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000561183.1	NIPA1-003	1675	254aa	ENSP00000453722.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS45190	Q3SYP4 Q7RTP0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000559448.1	NIPA1-002	2799	90aa	ENSP00000453286.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000557930.1	NIPA1-007	582	58aa	ENSP00000453797.1	Nonsense mediated decay		H0YLJ9 H0YMY7	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000560069.1	NIPA1-008	575	35aa	ENSP00000453237.1	Nonsense mediated decay		H0YLJ9	-	-
ENST00000560105.1	NIPA1-006	375	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: 5, Coding exons: 4, Transcript length: 7,613 bps, Translation length: 254 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q7RTP0

CCDS

This transcript is a member of the Human CCDS set: CCDS45190

Version

ENST00000437912.2

Type

Protein coding

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:	OTTHUMT00000415890 (version 1)

GENCODE basic gene

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

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Transcript: ENST00000437912.2 NIPA1-004

Summary