Description

Bardet-Biedl syndrome 7 (human) [Source:MGI Symbol;Acc:MGI:1918742]

Location
INSDC coordinates

chromosome:GRCm38:CM000996.2:36573142:36613477:1

About this gene

This gene has 6 transcripts (splice variants), 67 orthologues, is a member of 2 Ensembl protein families and is associated with 2 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
Bbs7-001ENSMUST000001081562687715aaENSMUSP00000103791
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS17314Q8K2G4 NM_027810
NP_082086
TSL:1

Transcript Support Level 1, when transcripts 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. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS P2

PRINCIPAL2 - APPRIS candidate principal isoform (CCDS).

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

Bbs7-002ENSMUST000000401482599715aaENSMUSP00000047273
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-Q8K2G4 -TSL:1

Transcript Support Level 1, when transcripts 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. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS ALT1

ALTERNATIVE1 - APPRIS candidate principal isoform that is conserved in at least three tested non-primate species.

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

Bbs7-003ENSMUST000001081552437673aaENSMUSP00000103790
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9Q0R0 -TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
Bbs7-005ENSMUST0000014233337791aaENSMUSP00000118961
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-D3YXR1 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:2

Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Bbs7-006ENSMUST000001991361509No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---
Bbs7-004ENSMUST000001296711288No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:1

Transcript Support Level 1, when transcripts 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. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays