Transcript: ENST00000378156.4 NPHP4-001

Description

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

Gene Synonyms

KIAA0673, POC10, SLSN4

Location

Chromosome 1: 5,922,878-6,052,531 reverse strand.

About this transcript

This transcript has 30 exons, is annotated with 7 domains and features, is associated with 61997 variant alleles and maps to 791 oligo probes.

Gene

This transcript is a product of gene ENSG00000131697.13 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		-	-	-

Summary

Statistics

Exons: 30, Coding exons: 29, Transcript length: 4,994 bps, Translation length: 1,426 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: O75161

CCDS

This transcript is a member of the Human CCDS set: CCDS44052

Version

ENST00000378156.4

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000001715 (version 2)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

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Transcript: ENST00000378156.4 NPHP4-001

Summary