Description
nephronophthisis 1 (juvenile) [Source:HGNC Symbol;Acc:7905]
Gene Synonyms
JBTS4, NPH1, SLSN1
Location
Chromosome 2: 110,879,888-110,962,643 reverse strand.
GRCh37:CM000664.1
About this gene
This gene has 11 transcripts (splice variants) and is associated with 10 phenotypes.
Transcripts
| 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 | - | 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, |
| 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 | - | - | - |
