Loading…

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

Configure this page

Share this page

Bookmark this page

.

Gene: NPHP4 ENSG00000131697

.

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	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		-	-	-

.

Summary

.

.