Description
nephronophthisis 1 (juvenile) [Source:HGNC Symbol;Acc:7905]
Gene Synonyms
JBTS4, NPH1, SLSN1
Location
Chromosome 2: 110,880,913-110,962,569 reverse strand.
About this transcript
This transcript has 20 exons, is annotated with 14 domains and features, is associated with 32211 variant alleles and maps to 516 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 | - | - | - |