Gene: NIPA1 ENSG00000170113

Description

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

Gene Synonyms

FSP3, MGC35570, SPG6

Location

Chromosome 15: 23,043,277-23,100,005 reverse strand.

GRCh37:CM000677.1

About this gene

This gene has 8 transcripts (splice variants), 5 paralogues and is associated with 3 phenotypes.

Transcripts

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		-	-	-

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Gene: NIPA1 ENSG00000170113

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EMBL-EBI User Survey 2024

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Gene: NIPA1 ENSG00000170113

Summary