Bardet-Biedl syndrome 1 (human) [Source:MGI Symbol;Acc:MGI:1277215]
D19Ertd609e
Chromosome 19: 4,936,906-4,956,656 reverse strand.
GRCm39:CM001012.3
This gene has 8 transcripts (splice variants), 188 orthologues and is associated with 59 phenotypes.
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | Flags |
|---|---|---|---|---|---|---|---|---|
| ENSMUST00000053506.8 | Bbs1-201 | 5602 | 593aa | ENSMUSP00000055321.7 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS29442 | Q3V3N7 | 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, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1,TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:1, |
| ENSMUST00000238170.2 | Bbs1-208 | 1841 | 452aa | ENSMUSP00000157830.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A0A494B9Z5 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENSMUST00000237085.2 | Bbs1-205 | 1549 | 496aa | ENSMUSP00000157393.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A0A494B8X5 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENSMUST00000237362.2 | Bbs1-206 | 1993 | 164aa | ENSMUSP00000157728.2 | Nonsense mediated decay | A0A494B9R9 | - | |
| ENSMUST00000236538.2 | Bbs1-204 | 643 | No protein | - | Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined | - | - | |
| ENSMUST00000237638.2 | Bbs1-207 | 2019 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | |
| ENSMUST00000235498.2 | Bbs1-202 | 1244 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | |
| ENSMUST00000236150.2 | Bbs1-203 | 667 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - |
