Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	79738
Gene name Gene Name - the full gene name approved by the HGNC.	Bardet-Biedl syndrome 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BBS10
Synonyms (NCBI Gene) Gene synonyms aliases	C12orf58
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q21.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The protei

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SNP ID	Visualize variation	Clinical significance	Consequence
rs137852837	A>C	Pathogenic	Coding sequence variant, missense variant
rs139658279	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs141521925	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs143366878	A>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs148374859	G>C	Pathogenic	Missense variant, coding sequence variant
rs199474722	C>T	Pathogenic	Missense variant, coding sequence variant
rs202228478	T>A	Pathogenic	Stop gained, coding sequence variant
rs375413604	G>A,C,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs549625604	->A	Pathogenic	Coding sequence variant, frameshift variant
rs574032499	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs587777837	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs727503818	T>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs745497072	CTGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs753604828	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs756632517	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs758522600	CTAA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs758732081	G>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs759185809	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs759682922	G>C,T	Likely-pathogenic	Stop gained, coding sequence variant
rs760642305	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs760693838	->T	Pathogenic	Frameshift variant, coding sequence variant
rs761101213	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs765561672	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs768385647	G>C	Pathogenic	Coding sequence variant, stop gained
rs768933093	G>A	Pathogenic	Coding sequence variant, missense variant
rs769028262	C>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant
rs770053320	->G	Pathogenic	Coding sequence variant, frameshift variant
rs770556842	TTAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs771325212	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs773864735	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs774095109	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs775950661	CA>-	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs778431173	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs780059308	GACT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs781421232	GAT>-	Pathogenic	Inframe deletion, coding sequence variant
rs786204573	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786204575	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs786204671	TTCT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs786204705	GAGTT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863224522	G>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs869025209	TTTTTGGCAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs869025210	->T	Pathogenic	Coding sequence variant, frameshift variant
rs869025211	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886042729	C>A	Likely-pathogenic, pathogenic	Splice donor variant
rs886043841	AT>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs898539189	C>A	Pathogenic	Coding sequence variant, stop gained
rs1057516240	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516266	AAAT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516623	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516628	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516669	CTATT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516701	CTGTGAT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516753	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516754	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516836	->GA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516861	CA>-,CACA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516998	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517031	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517156	ATGTAAAGCATCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517184	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057517206	TA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1060500996	ATAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796315	C>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs1156913215	G>A,C	Likely-pathogenic, pathogenic	Stop gained, missense variant, coding sequence variant
rs1278460471	TCACAGACCCT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1310735399	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1340165752	A>C	Pathogenic	Coding sequence variant, stop gained
rs1356713858	A>C	Pathogenic	Stop gained, coding sequence variant
rs1389599028	AA>-,A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1460517643	A>G	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1555202546	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555202562	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202572	A>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1555202583	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555202584	G>-	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1555202599	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202607	A>TC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202614	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202636	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202642	->GAACA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202645	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555202654	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202656	G>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1555202657	->TC	Likely-pathogenic	Stop gained, coding sequence variant
rs1555202681	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202687	->TA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202695	->C	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202697	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1555202698	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202700	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555202717	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202731	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202737	->AATGTTT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202740	C>G	Likely-pathogenic	Splice acceptor variant
rs1555202801	GC>CT	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1555202806	AACGCCGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565809409	G>T	Pathogenic-likely-pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1565809478	->T	Pathogenic	Stop gained, coding sequence variant
rs1565809597	TTTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565809867	A>T	Pathogenic	Stop gained, coding sequence variant
rs1565809995	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565810301	C>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1592491950	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592492255	G>A	Likely-pathogenic	Stop gained, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019602	hsa-miR-340-5p	Sequencing	20371350
MIRT021120	hsa-miR-186-5p	Sequencing	20371350
MIRT563311	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT563310	hsa-miR-548ab	PAR-CLIP	20371350
MIRT563309	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT563308	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT563307	hsa-miR-548ak	PAR-CLIP	20371350
MIRT563306	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT563305	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT563304	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT563303	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT563302	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT563301	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT563300	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT563299	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT563298	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT563297	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT563296	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT563295	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT563294	hsa-miR-548i	PAR-CLIP	20371350
MIRT563293	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT563292	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT563291	hsa-miR-548w	PAR-CLIP	20371350
MIRT563290	hsa-miR-548y	PAR-CLIP	20371350
MIRT563289	hsa-miR-559	PAR-CLIP	20371350
MIRT563288	hsa-miR-548av-5p	PAR-CLIP	20371350
MIRT563287	hsa-miR-548k	PAR-CLIP	20371350
MIRT563286	hsa-miR-8054	PAR-CLIP	20371350
MIRT563285	hsa-miR-548l	PAR-CLIP	20371350
MIRT563284	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT573789	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT573788	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT573786	hsa-miR-6887-3p	PAR-CLIP	20371350
MIRT573787	hsa-miR-6795-3p	PAR-CLIP	20371350
MIRT563281	hsa-miR-517-5p	PAR-CLIP	20371350
MIRT563278	hsa-miR-889-3p	PAR-CLIP	20371350
MIRT573785	hsa-miR-6826-3p	PAR-CLIP	20371350
MIRT563277	hsa-miR-4777-5p	PAR-CLIP	20371350
MIRT563276	hsa-miR-587	PAR-CLIP	20371350
MIRT563274	hsa-miR-375	PAR-CLIP	20371350
MIRT563273	hsa-miR-6739-3p	PAR-CLIP	20371350
MIRT563311	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT563310	hsa-miR-548ab	PAR-CLIP	20371350
MIRT563309	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT563308	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT563307	hsa-miR-548ak	PAR-CLIP	20371350
MIRT563306	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT563305	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT563304	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT563303	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT563302	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT563301	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT563300	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT563299	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT563298	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT563297	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT563296	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT563295	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT563294	hsa-miR-548i	PAR-CLIP	20371350
MIRT563293	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT563292	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT563291	hsa-miR-548w	PAR-CLIP	20371350
MIRT563290	hsa-miR-548y	PAR-CLIP	20371350
MIRT563289	hsa-miR-559	PAR-CLIP	20371350
MIRT563288	hsa-miR-548av-5p	PAR-CLIP	20371350
MIRT563287	hsa-miR-548k	PAR-CLIP	20371350
MIRT563286	hsa-miR-8054	PAR-CLIP	20371350
MIRT563285	hsa-miR-548l	PAR-CLIP	20371350
MIRT563284	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT563283	hsa-miR-3126-3p	PAR-CLIP	20371350
MIRT563282	hsa-miR-1298-3p	PAR-CLIP	20371350
MIRT563281	hsa-miR-517-5p	PAR-CLIP	20371350
MIRT563279	hsa-miR-7152-3p	PAR-CLIP	20371350
MIRT563280	hsa-miR-3663-5p	PAR-CLIP	20371350
MIRT563278	hsa-miR-889-3p	PAR-CLIP	20371350
MIRT563277	hsa-miR-4777-5p	PAR-CLIP	20371350
MIRT563276	hsa-miR-587	PAR-CLIP	20371350
MIRT563275	hsa-miR-3149	PAR-CLIP	20371350
MIRT563274	hsa-miR-375	PAR-CLIP	20371350
MIRT563273	hsa-miR-6739-3p	PAR-CLIP	20371350
MIRT563311	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT563310	hsa-miR-548ab	PAR-CLIP	20371350
MIRT563309	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT563308	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT563307	hsa-miR-548ak	PAR-CLIP	20371350
MIRT563306	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT563305	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT563304	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT563303	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT563302	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT563301	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT563300	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT563299	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT563298	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT563297	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT563296	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT563295	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT563294	hsa-miR-548i	PAR-CLIP	20371350
MIRT563293	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT563292	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT563291	hsa-miR-548w	PAR-CLIP	20371350
MIRT563290	hsa-miR-548y	PAR-CLIP	20371350
MIRT563289	hsa-miR-559	PAR-CLIP	20371350
MIRT563288	hsa-miR-548av-5p	PAR-CLIP	20371350
MIRT563287	hsa-miR-548k	PAR-CLIP	20371350
MIRT563286	hsa-miR-8054	PAR-CLIP	20371350
MIRT563285	hsa-miR-548l	PAR-CLIP	20371350
MIRT563284	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT573789	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT573788	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT573786	hsa-miR-6887-3p	PAR-CLIP	20371350
MIRT573787	hsa-miR-6795-3p	PAR-CLIP	20371350
MIRT563281	hsa-miR-517-5p	PAR-CLIP	20371350
MIRT563278	hsa-miR-889-3p	PAR-CLIP	20371350
MIRT573785	hsa-miR-6826-3p	PAR-CLIP	20371350
MIRT563277	hsa-miR-4777-5p	PAR-CLIP	20371350
MIRT563276	hsa-miR-587	PAR-CLIP	20371350
MIRT563274	hsa-miR-375	PAR-CLIP	20371350
MIRT563273	hsa-miR-6739-3p	PAR-CLIP	20371350
MIRT563311	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT563310	hsa-miR-548ab	PAR-CLIP	20371350
MIRT563309	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT563308	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT563307	hsa-miR-548ak	PAR-CLIP	20371350
MIRT563306	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT563305	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT563304	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT563303	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT563302	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT563301	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT563300	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT563299	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT563298	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT563297	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT563296	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT563295	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT563294	hsa-miR-548i	PAR-CLIP	20371350
MIRT563293	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT563292	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT563291	hsa-miR-548w	PAR-CLIP	20371350
MIRT563290	hsa-miR-548y	PAR-CLIP	20371350
MIRT563289	hsa-miR-559	PAR-CLIP	20371350
MIRT563288	hsa-miR-548av-5p	PAR-CLIP	20371350
MIRT563287	hsa-miR-548k	PAR-CLIP	20371350
MIRT563286	hsa-miR-8054	PAR-CLIP	20371350
MIRT563285	hsa-miR-548l	PAR-CLIP	20371350
MIRT563284	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT563283	hsa-miR-3126-3p	PAR-CLIP	20371350
MIRT563282	hsa-miR-1298-3p	PAR-CLIP	20371350
MIRT563281	hsa-miR-517-5p	PAR-CLIP	20371350
MIRT563279	hsa-miR-7152-3p	PAR-CLIP	20371350
MIRT563280	hsa-miR-3663-5p	PAR-CLIP	20371350
MIRT563278	hsa-miR-889-3p	PAR-CLIP	20371350
MIRT563277	hsa-miR-4777-5p	PAR-CLIP	20371350
MIRT563276	hsa-miR-587	PAR-CLIP	20371350
MIRT563275	hsa-miR-3149	PAR-CLIP	20371350
MIRT563274	hsa-miR-375	PAR-CLIP	20371350
MIRT563273	hsa-miR-6739-3p	PAR-CLIP	20371350
MIRT816763	hsa-miR-1208	CLIP-seq
MIRT816764	hsa-miR-1225-5p	CLIP-seq
MIRT816765	hsa-miR-136	CLIP-seq
MIRT816766	hsa-miR-141	CLIP-seq
MIRT816767	hsa-miR-146a	CLIP-seq
MIRT816768	hsa-miR-146b-5p	CLIP-seq
MIRT816769	hsa-miR-200a	CLIP-seq
MIRT816770	hsa-miR-2052	CLIP-seq
MIRT816771	hsa-miR-27a	CLIP-seq
MIRT816772	hsa-miR-27b	CLIP-seq
MIRT816773	hsa-miR-3065-5p	CLIP-seq
MIRT816774	hsa-miR-3074-3p	CLIP-seq
MIRT816775	hsa-miR-3148	CLIP-seq
MIRT816776	hsa-miR-3160-3p	CLIP-seq
MIRT816777	hsa-miR-3161	CLIP-seq
MIRT816778	hsa-miR-3163	CLIP-seq
MIRT816779	hsa-miR-323-3p	CLIP-seq
MIRT816780	hsa-miR-3545-3p	CLIP-seq
MIRT816781	hsa-miR-3545-5p	CLIP-seq
MIRT816782	hsa-miR-3647-3p	CLIP-seq
MIRT816783	hsa-miR-3680	CLIP-seq
MIRT816784	hsa-miR-3691-3p	CLIP-seq
MIRT816785	hsa-miR-3919	CLIP-seq
MIRT816786	hsa-miR-3925-5p	CLIP-seq
MIRT816787	hsa-miR-3927	CLIP-seq
MIRT816788	hsa-miR-421	CLIP-seq
MIRT816789	hsa-miR-4272	CLIP-seq
MIRT816790	hsa-miR-4282	CLIP-seq
MIRT816791	hsa-miR-4329	CLIP-seq
MIRT816792	hsa-miR-4424	CLIP-seq
MIRT816793	hsa-miR-452	CLIP-seq
MIRT816794	hsa-miR-4650-3p	CLIP-seq
MIRT816795	hsa-miR-4659a-3p	CLIP-seq
MIRT816796	hsa-miR-4659b-3p	CLIP-seq
MIRT816797	hsa-miR-4662a-5p	CLIP-seq
MIRT816798	hsa-miR-4668-5p	CLIP-seq
MIRT816799	hsa-miR-4676-3p	CLIP-seq
MIRT816800	hsa-miR-4704-3p	CLIP-seq
MIRT816801	hsa-miR-4711-5p	CLIP-seq
MIRT816802	hsa-miR-4717-3p	CLIP-seq
MIRT816803	hsa-miR-4733-5p	CLIP-seq
MIRT816804	hsa-miR-4735-5p	CLIP-seq
MIRT816805	hsa-miR-4768-5p	CLIP-seq
MIRT816806	hsa-miR-4797-5p	CLIP-seq
MIRT816807	hsa-miR-4798-3p	CLIP-seq
MIRT816808	hsa-miR-4803	CLIP-seq
MIRT816809	hsa-miR-505	CLIP-seq
MIRT816810	hsa-miR-510	CLIP-seq
MIRT816811	hsa-miR-512-5p	CLIP-seq
MIRT816812	hsa-miR-513a-5p	CLIP-seq
MIRT816813	hsa-miR-548ac	CLIP-seq
MIRT816814	hsa-miR-548ae	CLIP-seq
MIRT816815	hsa-miR-548aj	CLIP-seq
MIRT816816	hsa-miR-548am	CLIP-seq
MIRT816817	hsa-miR-548c-3p	CLIP-seq
MIRT816818	hsa-miR-548d-3p	CLIP-seq
MIRT816819	hsa-miR-548m	CLIP-seq
MIRT816820	hsa-miR-548x	CLIP-seq
MIRT816821	hsa-miR-548z	CLIP-seq
MIRT816822	hsa-miR-561	CLIP-seq
MIRT816823	hsa-miR-570	CLIP-seq
MIRT816824	hsa-miR-603	CLIP-seq
MIRT816825	hsa-miR-610	CLIP-seq
MIRT816826	hsa-miR-659	CLIP-seq
MIRT816827	hsa-miR-890	CLIP-seq
MIRT816763	hsa-miR-1208	CLIP-seq
MIRT816764	hsa-miR-1225-5p	CLIP-seq
MIRT816765	hsa-miR-136	CLIP-seq
MIRT1941540	hsa-miR-151-3p	CLIP-seq
MIRT816770	hsa-miR-2052	CLIP-seq
MIRT816771	hsa-miR-27a	CLIP-seq
MIRT816772	hsa-miR-27b	CLIP-seq
MIRT1941541	hsa-miR-3685	CLIP-seq
MIRT1941542	hsa-miR-384	CLIP-seq
MIRT1941543	hsa-miR-411	CLIP-seq
MIRT1941544	hsa-miR-4463	CLIP-seq
MIRT1941545	hsa-miR-4499	CLIP-seq
MIRT816793	hsa-miR-452	CLIP-seq
MIRT816795	hsa-miR-4659a-3p	CLIP-seq
MIRT816796	hsa-miR-4659b-3p	CLIP-seq
MIRT816799	hsa-miR-4676-3p	CLIP-seq
MIRT816800	hsa-miR-4704-3p	CLIP-seq
MIRT816803	hsa-miR-4733-5p	CLIP-seq
MIRT816812	hsa-miR-513a-5p	CLIP-seq
MIRT1941546	hsa-miR-562	CLIP-seq
MIRT816776	hsa-miR-3160-3p	CLIP-seq
MIRT816791	hsa-miR-4329	CLIP-seq
MIRT816781	hsa-miR-3545-5p	CLIP-seq
MIRT2483645	hsa-miR-3646	CLIP-seq
MIRT816792	hsa-miR-4424	CLIP-seq
MIRT2483646	hsa-miR-4517	CLIP-seq
MIRT816802	hsa-miR-4717-3p	CLIP-seq
MIRT816822	hsa-miR-561	CLIP-seq
MIRT816826	hsa-miR-659	CLIP-seq
MIRT816827	hsa-miR-890	CLIP-seq
MIRT816781	hsa-miR-3545-5p	CLIP-seq
MIRT2483645	hsa-miR-3646	CLIP-seq
MIRT816792	hsa-miR-4424	CLIP-seq
MIRT2483646	hsa-miR-4517	CLIP-seq
MIRT816802	hsa-miR-4717-3p	CLIP-seq
MIRT816822	hsa-miR-561	CLIP-seq
MIRT816826	hsa-miR-659	CLIP-seq
MIRT816827	hsa-miR-890	CLIP-seq

Show/Hide all(24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	20080638, 28514442, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005929	Component	Cilium	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0009416	Process	Response to light stimulus	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0042670	Process	Retinal cone cell differentiation	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043254	Process	Regulation of protein-containing complex assembly	IMP	22500027
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IMP	17980398
GO:0046530	Process	Photoreceptor cell differentiation	IEA
GO:0051131	Process	Chaperone-mediated protein complex assembly	IBA
GO:0051131	Process	Chaperone-mediated protein complex assembly	IEA
GO:0051131	Process	Chaperone-mediated protein complex assembly	IMP	20080638
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060221	Process	Retinal rod cell differentiation	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	22302990
GO:1904390	Process	Cone retinal bipolar cell differentiation	IEA
GO:1905515	Process	Non-motile cilium assembly	IMP	17980398

MIM	HGNC	e!Ensembl
610148	26291	ENSG00000179941

Protein

UniProt ID

Q8TAM1

Protein name

BBSome complex assembly protein BBS10 (Bardet-Biedl syndrome 10 protein)

Protein function

Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). In

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00118	Cpn60_TCP1	21 → 109	TCP-1/cpn60 chaperonin family	Family
PF00118	Cpn60_TCP1	137 → 430	TCP-1/cpn60 chaperonin family	Family

Sequence

MLSSMAAAGSVKAALQVAEVLEAIVSCCVGPEGRQVLCTKPTGEVLLSRNGGRLLEALHL
EHPIARMIVDCVSSHLKKTGDGAKTFIIFLCHLLRGLHAITDREKDPLMCENIQTHGRHW
KNCSRWKFISQALLTFQTQILDGIMDQYLSRHFLSIFSSAKERTLCRSSLELLLEAYFCG
RVGRNNHKFISQLMCDYFFKCMTCKSGIGVFELVDDHFVELNVGVTGLPVSDSRIIAGLV
LQKDFSVYRPADGDMRMVIVTETIQPLFSTSGSEFILNSEAQFQTSQFWIMEKTKAIMKH
LHSQNVKLLISSVKQPDLVSYYAGVNGISVVECLSSEEVSLIRRIIGLSPFVPPQAFSQC
EIPNTALVKFCKPLILRSKRYVHLGLISTCAFIPHSIVLCGPVHGLIEQHEDALHGALKM
LRQLFKDLDLNYMTQTNDQNGTSSLFIYKNSGESYQAPDPGNGSIQRPYQDTVAENKDAL
EKTQTYLKVHSNLVIPDVELETYIPYSTPTLTPTDTFQTVETLTCLSLERNRLTDYYEPL
LKNNSTAYSTRGNRIEISYENLQVTNITRKGSMLPVSCKLPNMGTSQSYLSSSMPAGCVL
PVGGNFEILLHYYLLNYAKKCHQSEETMVSMIIANALLGIPKVLYKSKTGKYSFPHTYIR
AVHALQTNQPLVSSQTGLESVMGKYQLLTSVLQCLTKILTIDMVITVKRHPQKVHNQDSE
DEL

Sequence length

723

Interactions

View interactions

	Reactome
			BBSome-mediated cargo-targeting to cilium

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Bardet-Biedl Syndrome	bardet-biedl syndrome 10, bardet-biedl syndrome, Bardet-Biedl syndrome 1	rs574032499, rs549625604, rs1460517643, rs1057516998, rs1951758601, rs869025211, rs886042729, rs1565809867, rs759185809, rs1057516861, rs1555202695, rs1555202697, rs1057517031, rs1592491950, rs786204575 View all (87 more)	N/A
retinal dystrophy	Retinal dystrophy	rs148374859, rs549625604, rs775950661, rs760693838, rs1555202584, rs137852837, rs768933093, rs375413604	N/A
Asphyxiating Thoracic Dystrophy	Asphyxiating thoracic dystrophy 3	rs758522600	N/A
Retinitis Pigmentosa	retinitis pigmentosa	rs756632517, rs549625604	N/A

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Albinism	Associate	39596324
Bardet Biedl Syndrome	Associate	17980398, 20177705, 20876674, 21209035, 28143435, 28761321, 29806606, 30312873, 30335236, 31951329, 33138063, 33509858, 33964006, 34940782, 35112343, 35886001, 36012682 View all (2 more)
Breast Neoplasms	Associate	29954368, 30947698
Ciliopathies	Associate	35764379, 39596324
Cone Dystrophy	Associate	34940782, 37031301
Cone Rod Dystrophies	Associate	34940782
Gyrate Atrophy	Associate	39596324
Insulin Resistance	Associate	21209035
Intestinal Pseudo Obstruction	Associate	21209035
Juberg Hayward syndrome	Associate	33509858
Kidney Diseases	Associate	20876674, 28143435
Laryngeal Web Familial	Associate	33509858
Muscle Weakness	Associate	33509858
Neoplastic Syndromes Hereditary	Associate	30947698
Nijmegen Breakage Syndrome	Associate	35886001
Obesity	Associate	21209035, 30335236
Renal Insufficiency	Associate	35112343
Respiratory Sounds	Associate	33509858
Retinal Cone Dystrophy 1	Associate	39596324
Retinal Degeneration	Associate	34940782
Retinal Dystrophies	Associate	28143435, 36084042, 39596324

BBS10 (Bardet-Biedl syndrome 10)