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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Paralogues
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: BBS7 ENSG00000138686

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Description

Bardet-Biedl syndrome 7 [Source:HGNC Symbol;Acc:18758]

Gene Synonyms

BBS2L1, FLJ10715

Location

Chromosome 4: 122,745,595-122,791,652 reverse strand.

GRCh37:CM000666.1

About this gene

This gene has 6 transcripts (splice variants) and is associated with 4 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000264499.4	BBS7-001	3752	715aa	ENSP00000264499.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS3724	H0Y973 Q8IWZ6	NM_176824.2	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,
ENST00000506636.1	BBS7-003	2570	672aa	ENSP00000423626.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS54799	Q8IWZ6	NM_018190.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000507814.1	BBS7-007	734	138aa	ENSP00000423250.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H0Y973	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000505692.1	BBS7-005	752	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000502444.1	BBS7-004	725	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000508536.1	BBS7-006	164	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Summary

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