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 2 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
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,
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	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

Summary