Gene: NPHP3 ENSG00000113971

Description

nephronophthisis 3 (adolescent) [Source:HGNC Symbol;Acc:7907]

Gene Synonyms

FLJ30691, FLJ36696, KIAA2000, MKS7, NPH3, RHPD, RHPD1

Location

Chromosome 3: 132,276,986-132,441,303 reverse strand.

GRCh37:CM000665.1

About this gene

This gene has 14 transcripts (splice variants), 5 paralogues and is associated with 11 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000326682.8	NPHP3-201	5287	704aa	ENSP00000319909.8	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q7Z494	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000337331.5	NPHP3-006	4362	1330aa	ENSP00000338766.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS3078	Q7Z494	NM_153240.4	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000343113.4	NPHP3-202	797	239aa	ENSP00000344802.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q7Z494	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000512094.1	NPHP3-011	721	87aa	ENSP00000427666.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H0YAM4	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000383282.2	NPHP3-203	486	150aa	ENSP00000372769.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q7Z494	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000471702.1	NPHP3-001	7784	636aa	ENSP00000419763.1	Nonsense mediated decay		Q7Z494	-	-
ENST00000465756.1	NPHP3-002	3852	538aa	ENSP00000419907.1	Nonsense mediated decay		F2Z3A8	-	-
ENST00000469232.1	NPHP3-003	1616	123aa	ENSP00000418664.1	Nonsense mediated decay		Q7Z494	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000476742.1	NPHP3-009	650	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000471145.1	NPHP3-008	435	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000490993.1	NPHP3-004	5197	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000474871.1	NPHP3-005	4493	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000493732.1	NPHP3-007	1933	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000515289.1	NPHP3-010	556	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: NPHP3 ENSG00000113971

Summary