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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Paralogues
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: NPHP4 ENSG00000131697

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Description

nephronophthisis 4 [Source:HGNC Symbol;Acc:19104]

Gene Synonyms

KIAA0673, POC10, SLSN4

Location

Chromosome 1: 5,922,871-6,052,533 reverse strand.

GRCh37:CM000663.1

About this gene

This gene has 10 transcripts (splice variants) and is associated with 7 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000378156.4	NPHP4-001	4994	1426aa	ENSP00000367398.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS44052	O75161	NM_015102.3	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,
ENST00000489180.2	NPHP4-002	5548	911aa	ENSP00000423747.1	Nonsense mediated decay		Q8IWC0	-	-
ENST00000378169.3	NPHP4-011	4213	262aa	ENSP00000367411.3	Nonsense mediated decay		D6RA06	-	-
ENST00000466897.1	NPHP4-005	1192	138aa	ENSP00000425745.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000478423.2	NPHP4-009	4467	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000378161.1	NPHP4-004	4370	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000460696.1	NPHP4-010	3967	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000470763.1	NPHP4-003	3156	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000468253.1	NPHP4-008	781	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000506941.1	NPHP4-012	570	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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Summary

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