GenTIGS

Bardet-Biedl syndrome 10 (BBS10) Associated conditions: 1. Retinitis pigmentosa 2. Bardet-Biedl syndrome 3. Asphyxiating thoracic dystrophy 3

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_024685.4	NP_078961.3	NC_000012.12	(76344473..76348414, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 143 reference articles

Variant Information Bardet-Biedl syndrome 10 (BBS10) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Bardet-Biedl syndrome 10 (BBS10)

ClinVar variants:Revealing mutagenic patterns

GO Term of Bardet-Biedl syndrome 10 (BBS10)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	enables	nucleotide binding	Function	-
2	Homo sapiens	IPI	enables	protein binding	Function	20080638 28514442 33961781
3	Homo sapiens	IEA	enables	ATP binding	Function	-
4	Homo sapiens	IEA	located_in	cilium	Component	-
5	Homo sapiens	IEA	involved_in	visual perception	Process	-
6	Homo sapiens	IMP	acts_upstream_of_or_within	regulation of protein-containing complex assembly	Process	22500027
7	Homo sapiens	IMP	involved_in	photoreceptor cell maintenance	Process	17980398
8	Homo sapiens	IBA	involved_in	chaperone-mediated protein complex assembly	Process	-
9	Homo sapiens	IEA	involved_in	chaperone-mediated protein complex assembly	Process	-
10	Homo sapiens	IMP	acts_upstream_of_or_within	chaperone-mediated protein complex assembly	Process	20080638
11	Homo sapiens	IPI	enables	RNA polymerase II-specific DNA-binding transcription factor binding	Function	22302990
12	Homo sapiens	IMP	involved_in	non-motile cilium assembly	Process	17980398