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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79738
Gene name	Bardet-Biedl syndrome 10
Gene symbol	BBS10
Synonyms (NCBI Gene)	C12orf58
Chromosome	12
Chromosome location	12q21.2
Summary	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

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

1370

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Asphyxiating thoracic dystrophy 3	Pathogenic	rs758522600	RCV000256445
Bardet-Biedl syndrome	Likely pathogenic; Pathogenic	rs1951764875, rs778731343, rs2136090024, rs2136091120, rs199998327, rs2136091240, rs2136091633, rs2136091654, rs760693838, rs1472533012, rs2136089877, rs2136090624, rs2136090739, rs2136090423, rs1951755742 View all (129 more)	RCV001319159 RCV002546463 RCV001386811 RCV001383308 RCV001381069 RCV001385224 RCV001388500 RCV003155416 RCV001882698 RCV002542433 RCV001944862 RCV001911742 RCV001946697 RCV001970183 RCV001992426 RCV001958379 RCV001949264 RCV001874626 RCV002035349 RCV001993164 RCV001887897 RCV001908043 RCV001941953 RCV002002566 RCV001951157 RCV001951171 RCV001880866 RCV001972719 RCV001899778 RCV001947039 RCV001941247 RCV001951568 RCV001886290 RCV000168127 RCV001328242 RCV002223035 RCV000152827 RCV003103154 RCV001204588 RCV003522941 RCV001244659 RCV001174881 RCV000638365 RCV003062527 RCV003037106 RCV002625035 RCV002726946 RCV002796206 RCV002890055 RCV000197461 RCV000196568 RCV003522947 RCV003522946 RCV003024856 RCV000799037 RCV003222505 RCV003222515 RCV003222523 RCV003222536 RCV001382046 RCV004690397 RCV001859589 RCV001207355 RCV003331595 RCV003523196 RCV005100251 RCV003633720 RCV003523197 RCV003523198 RCV003523955 RCV003522320 RCV003525248 RCV003525332 RCV003525334 RCV003523453 RCV003524449 RCV003524628 RCV003524436 RCV003522913 RCV003634527 RCV003634851 RCV003634790 RCV003634819 RCV003635071 RCV003635100 RCV003635048 RCV003633083 RCV003633076 RCV003633078 RCV003634122 RCV003873914 RCV003870972 RCV001216227 RCV003633500 RCV001850959 RCV001861388 RCV001041782 RCV002523871 RCV002524624 RCV002523848 RCV001382787 RCV000735922 RCV000225785 RCV000461059 RCV000466285 RCV000818478 RCV000528260 RCV000826096 RCV000811417 RCV001192908 RCV001324945 RCV001309745 RCV000586002 RCV000810149 RCV001383856 RCV001204836 RCV002532043 RCV000735925 RCV001388931 RCV003767974 RCV001038400 RCV001855531 RCV002544670 RCV002531305 RCV001175030 RCV001387800 RCV001868300 RCV000692177 RCV000699050 RCV000735923 RCV000735927 RCV000735926 RCV000735924 RCV000782275 RCV003768609 RCV003221799 RCV001389994 RCV001199432 RCV001199433 RCV001860600 RCV001067371 RCV001070903 RCV001038598 RCV001058425 RCV001172268 RCV001175029 RCV001224182 RCV001213955 RCV001234884 RCV001328243
Bardet-Biedl syndrome 1	Pathogenic; Likely pathogenic	rs549625604, rs727503818, rs768933093, rs148374859, rs1460517643, rs1592492255, rs778431173	RCV000709625 RCV001004383 RCV003228914 RCV003228900 RCV000625185 RCV001004384 RCV003229015
Bardet-biedl syndrome 1/10, digenic	Pathogenic	rs780059308	RCV002508143
Bardet-Biedl syndrome 10	Likely pathogenic; Pathogenic	rs1230692815, rs778731343, rs2136090024, rs2136091654, rs760693838, rs1472533012, rs1555202662, rs1389599028, rs1191479533, rs2136091244, rs1476664656, rs775090151, rs549625604, rs137852837, rs2540956687 View all (131 more)	RCV005002003 RCV001331336 RCV005005237 RCV001535981 RCV001580638 RCV001808191 RCV003464314 RCV003464294 RCV005635376 RCV003464179 RCV002479586 RCV003475186 RCV000001391 RCV000001394 RCV002291522 RCV000169072 RCV002463840 RCV000169372 RCV000169519 RCV000169317 RCV000169315 RCV000169474 RCV005010895 RCV003060000 RCV000401310 RCV000409505 RCV000207911 RCV000207760 RCV000207540 RCV000576728 RCV003140507 RCV003138957 RCV000672454 RCV003326727 RCV000984152 RCV000371245 RCV003324639 RCV003324640 RCV003465026 RCV003465027 RCV003465028 RCV003465029 RCV003465031 RCV003465032 RCV003465033 RCV003465034 RCV003465035 RCV003465036 RCV003465037 RCV003465038 RCV003465039 RCV003465040 RCV003474312 RCV003474313 RCV003474314 RCV003474315 RCV003474316 RCV003474317 RCV003474318 RCV003474319 RCV003474320 RCV004574088 RCV005013033 RCV005013266 RCV004573995 RCV004573996 RCV004573997 RCV004573998 RCV004573999 RCV004574000 RCV004574001 RCV004574002 RCV000410373 RCV000410139 RCV000409664 RCV000409496 RCV000411271 RCV000412206 RCV000409848 RCV000409876 RCV000409409 RCV000409349 RCV000411241 RCV000410766 RCV000411839 RCV000411485 RCV000411390 RCV000409088 RCV000409427 RCV000410231 RCV000412329 RCV000410999 RCV000409141 RCV000023802 RCV000023803 RCV000665753 RCV000477827 RCV000667693 RCV003463993 RCV000984153 RCV000984151 RCV000503944 RCV000501217 RCV002490846 RCV000578172 RCV000984154 RCV003471969 RCV001834975 RCV000763309 RCV000667156 RCV000667159 RCV000665076 RCV000667728 RCV000665618 RCV000672526 RCV000671097 RCV000666498 RCV000672892 RCV000673054 RCV000674904 RCV000669385 RCV000666092 RCV000672600 RCV000672846 RCV000670016 RCV000666905 RCV000665838 RCV000669901 RCV000665681 RCV000674334 RCV000672113 RCV000668802 RCV000670552 RCV000665633 RCV000674192 RCV000669881 RCV000670255 RCV000667409 RCV000679936 RCV002485783 RCV001825512 RCV000779832 RCV000844893 RCV000058867 RCV000988874 RCV004569854 RCV003462601 RCV003462573 RCV003462643 RCV003462763 RCV003462721 RCV001251482
Bardet-biedl syndrome 6/10, digenic	Pathogenic	rs549625604	RCV000144680
BBS10-related disorder	Pathogenic; Likely pathogenic	rs2136091166, rs549625604, rs770556842, rs786204575, rs786204671, rs761101213, rs768933093, rs886043841, rs375413604, rs780059308, rs1555202584, rs759185809, rs1565809478, rs778431173	RCV003408005 RCV003407252 RCV003927566 RCV003390883 RCV004739550 RCV003401079 RCV003407735 RCV004739661 RCV003960121 RCV003403151 RCV003392426 RCV004723055 RCV004723160 RCV004740557
Retinal dystrophy	Likely pathogenic; Pathogenic	rs1230692815, rs2136090243, rs549625604, rs137852837, rs768933093, rs148374859, rs775950661, rs375413604, rs1555202584, rs760693838	RCV004815330 RCV004816806 RCV001074512 RCV004814790 RCV001075496 RCV004814923 RCV001074511 RCV001075280 RCV004817789 RCV001075500
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs549625604, rs756632517	RCV000504690 RCV000504949

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
BBS10-related ciliopathy	Conflicting classifications of pathogenicity	rs140585012, rs771355732	RCV005365309 RCV005359633
Cervical cancer	Benign	rs74102398	RCV005914745
Melanoma	Uncertain significance	rs779659204	RCV005909187
Optic atrophy	Uncertain significance	rs769233464	RCV004815569
Ovarian serous cystadenocarcinoma	Benign	rs74102398	RCV005914746

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)