Transcript: ENST00000461707.1 NPHP1-006

Description

nephronophthisis 1 (juvenile) [Source:HGNC Symbol;Acc:7905]

Gene Synonyms

JBTS4, NPH1, SLSN1

Location

Chromosome 2: 110,881,165-110,962,578 reverse strand.

About this transcript

This transcript has 19 exons, is associated with 32136 variant alleles and maps to 624 oligo probes.

Gene

This transcript is a product of gene ENSG00000144061.8 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000316534.4	NPHP1-002	3756	733aa	ENSP00000313169.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2086	O15259	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000393272.3	NPHP1-001	2752	732aa	ENSP00000376953.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS46385	O15259	NM_207181.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000445609.2	NPHP1-011	2513	677aa	ENSP00000389879.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS46386	B4DQY0 O15259	NM_001128178.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000417665.1	NPHP1-007	2246	711aa	ENSP00000402176.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JNM7	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000355301.4	NPHP1-004	1932	614aa	ENSP00000347452.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS46384	O15259	NM_001128179.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000418527.1	NPHP1-003	742	121aa	ENSP00000412351.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9J082	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000422492.1	NPHP1-010	357	47aa	ENSP00000392562.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000449600.1	NPHP1-008	486	45aa	ENSP00000406453.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000496524.1	NPHP1-005	10006	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000461707.1	NPHP1-006	3822	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000493051.1	NPHP1-009	577	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: 19, Coding exons: 0, Transcript length: 3,822 bps,

Version

ENST00000461707.1

Type

Retained intron

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000338100 (version 1)

Favourite species

All species

Recent locations

Transcript: ENST00000461707.1 NPHP1-006

Summary