Description
Bardet-Biedl syndrome 7 (human) [Source:MGI Symbol;Acc:MGI:1918742]
Gene Synonyms
8430406N16Rik
Location
Chromosome 3: 36,573,142-36,613,477 reverse strand.
GRCm38:CM000996.2
About this gene
This gene has 6 transcripts (splice variants), 284 orthologues and is associated with 27 phenotypes.
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | Flags |
|---|---|---|---|---|---|---|---|---|
| Bbs7-203 | ENSMUST00000108156.8 | 2687 | 715aa | ENSMUSP00000103791.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS17314 | Q8K2G4 | <p>TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA.</p><p>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.</p>TSL:1, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, <p>APPRIS P2: Where the APPRIS core modules are unable to choose a clear principal variant (approximately 25% of human protein coding genes), the database chooses two or more of the CDS variants as "candidates" to be the principal variant.</p><p>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.</p>APPRIS P2, |
| Bbs7-201 | ENSMUST00000040148.10 | 2599 | 715aa | ENSMUSP00000047273.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | Q8K2G4 | <p>TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA.</p><p>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.</p>TSL:1, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, <p>APPRIS ALT1: For genes in which the APPRIS core modules are unable to choose a clear principal isoform, the ALT1 is the candidate transcript(s) models that is conserved in at least three tested species.</p><p>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.</p>APPRIS ALT1, |
| Bbs7-202 | ENSMUST00000108155.7 | 2437 | 673aa | ENSMUSP00000103790.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | E9Q0R0 | <p>TSL 5: A transcript where no single transcript supports the model structure.</p><p>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.</p>TSL:5, The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, |
| Bbs7-205 | ENSMUST00000142333.1 | 377 | 91aa | ENSMUSP00000118961.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | D3YXR1 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, <p>TSL 2: A transcript where the best supporting mRNA is flagged as suspect or the support is from multiple ESTs</p><p>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.</p>TSL:2, |
| Bbs7-206 | ENSMUST00000199136.1 | 1509 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | <p>TSL NA: A transcript that was not analysed for TSL.</p><p>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.</p>TSL:NA, |
| Bbs7-204 | ENSMUST00000129671.1 | 1288 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | <p>TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA.</p><p>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.</p>TSL:1, |
