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.	582
Gene name Gene Name - the full gene name approved by the HGNC.	Bardet-Biedl syndrome 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BBS1
Synonyms (NCBI Gene) Gene synonyms aliases	BBS2L2
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q13.2
Summary Summary of gene provided in NCBI Entrez Gene.	Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]

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SNP ID	Visualize variation	Clinical significance	Consequence
rs113994178	AAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCG>-	Pathogenic	5 prime UTR variant, frameshift variant, initiator codon variant
rs146052054	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs200688985	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs376894444	G>A	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587777829	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs751753112	G>A,T	Likely-pathogenic	Splice acceptor variant
rs764245266	A>C	Likely-pathogenic	Splice acceptor variant
rs771517209	G>A	Likely-pathogenic	Splice donor variant
rs772917364	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs786204444	C>T	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs869025204	C>G,T	Pathogenic	Intron variant
rs878855095	G>A	Pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs1057516449	G>A,C	Pathogenic, likely-pathogenic	Splice donor variant
rs1057516451	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516502	A>G	Likely-pathogenic	Splice acceptor variant
rs1057516507	T>A	Likely-pathogenic	Splice donor variant
rs1057516933	G>C	Likely-pathogenic	Splice acceptor variant
rs1057517007	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1166022838	->C	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1182864166	T>C,G	Likely-pathogenic	Splice donor variant
rs1306821707	A>C,G,T	Likely-pathogenic	Initiator codon variant, missense variant
rs1313590454	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1353098253	T>G	Likely-pathogenic	Splice donor variant
rs1490351829	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555046611	->T	Likely-pathogenic	Coding sequence variant, stop gained
rs1555046748	A>G	Likely-pathogenic	Splice acceptor variant
rs1555047409	GTCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590753968	G>-	Pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT626384	hsa-miR-3692-5p	HITS-CLIP	23824327
MIRT626383	hsa-miR-6861-5p	HITS-CLIP	23824327
MIRT626382	hsa-miR-5002-3p	HITS-CLIP	23824327
MIRT626381	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT626380	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT626379	hsa-miR-197-5p	HITS-CLIP	23824327
MIRT626378	hsa-miR-3132	HITS-CLIP	23824327
MIRT626377	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626376	hsa-miR-3118	HITS-CLIP	23824327
MIRT626375	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT626374	hsa-miR-1229-5p	HITS-CLIP	23824327
MIRT626384	hsa-miR-3692-5p	HITS-CLIP	23824327
MIRT626383	hsa-miR-6861-5p	HITS-CLIP	23824327
MIRT626382	hsa-miR-5002-3p	HITS-CLIP	23824327
MIRT626381	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT626380	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT626379	hsa-miR-197-5p	HITS-CLIP	23824327
MIRT626378	hsa-miR-3132	HITS-CLIP	23824327
MIRT626377	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626376	hsa-miR-3118	HITS-CLIP	23824327
MIRT626375	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT626374	hsa-miR-1229-5p	HITS-CLIP	23824327
MIRT626384	hsa-miR-3692-5p	HITS-CLIP	23824327
MIRT626383	hsa-miR-6861-5p	HITS-CLIP	23824327
MIRT626382	hsa-miR-5002-3p	HITS-CLIP	23824327
MIRT626381	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT626380	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT626379	hsa-miR-197-5p	HITS-CLIP	23824327
MIRT626378	hsa-miR-3132	HITS-CLIP	23824327
MIRT626377	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626376	hsa-miR-3118	HITS-CLIP	23824327
MIRT626375	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT626374	hsa-miR-1229-5p	HITS-CLIP	23824327
MIRT626384	hsa-miR-3692-5p	HITS-CLIP	23824327
MIRT626383	hsa-miR-6861-5p	HITS-CLIP	23824327
MIRT626382	hsa-miR-5002-3p	HITS-CLIP	23824327
MIRT626381	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT626380	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT626379	hsa-miR-197-5p	HITS-CLIP	23824327
MIRT626378	hsa-miR-3132	HITS-CLIP	23824327
MIRT626377	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626376	hsa-miR-3118	HITS-CLIP	23824327
MIRT626375	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT626374	hsa-miR-1229-5p	HITS-CLIP	23824327
MIRT626384	hsa-miR-3692-5p	HITS-CLIP	23824327
MIRT626383	hsa-miR-6861-5p	HITS-CLIP	23824327
MIRT626382	hsa-miR-5002-3p	HITS-CLIP	23824327
MIRT626381	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT626380	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT626379	hsa-miR-197-5p	HITS-CLIP	23824327
MIRT626378	hsa-miR-3132	HITS-CLIP	23824327
MIRT626377	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626376	hsa-miR-3118	HITS-CLIP	23824327
MIRT626375	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT626374	hsa-miR-1229-5p	HITS-CLIP	23824327
MIRT626384	hsa-miR-3692-5p	HITS-CLIP	23824327
MIRT626383	hsa-miR-6861-5p	HITS-CLIP	23824327
MIRT626382	hsa-miR-5002-3p	HITS-CLIP	23824327
MIRT626381	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT626380	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT626379	hsa-miR-197-5p	HITS-CLIP	23824327
MIRT626378	hsa-miR-3132	HITS-CLIP	23824327
MIRT626377	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626376	hsa-miR-3118	HITS-CLIP	23824327
MIRT626375	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT626374	hsa-miR-1229-5p	HITS-CLIP	23824327
MIRT816828	hsa-miR-1265	CLIP-seq
MIRT816829	hsa-miR-134	CLIP-seq
MIRT816830	hsa-miR-1343	CLIP-seq
MIRT816831	hsa-miR-1587	CLIP-seq
MIRT816832	hsa-miR-185	CLIP-seq
MIRT816833	hsa-miR-28-3p	CLIP-seq
MIRT816834	hsa-miR-2861	CLIP-seq
MIRT816835	hsa-miR-3074-5p	CLIP-seq
MIRT816836	hsa-miR-3123	CLIP-seq
MIRT816837	hsa-miR-3150a-3p	CLIP-seq
MIRT816838	hsa-miR-3154	CLIP-seq
MIRT816839	hsa-miR-3175	CLIP-seq
MIRT816840	hsa-miR-3545-3p	CLIP-seq
MIRT816841	hsa-miR-3668	CLIP-seq
MIRT816842	hsa-miR-3692	CLIP-seq
MIRT816843	hsa-miR-370	CLIP-seq
MIRT816844	hsa-miR-3919	CLIP-seq
MIRT816845	hsa-miR-3925-5p	CLIP-seq
MIRT816846	hsa-miR-3942-3p	CLIP-seq
MIRT816847	hsa-miR-4306	CLIP-seq
MIRT816848	hsa-miR-4437	CLIP-seq
MIRT816849	hsa-miR-4505	CLIP-seq
MIRT816850	hsa-miR-452	CLIP-seq
MIRT816851	hsa-miR-4644	CLIP-seq
MIRT816852	hsa-miR-4667-5p	CLIP-seq
MIRT816853	hsa-miR-4674	CLIP-seq
MIRT816854	hsa-miR-4676-3p	CLIP-seq
MIRT816855	hsa-miR-4700-5p	CLIP-seq
MIRT816856	hsa-miR-4756-3p	CLIP-seq
MIRT816857	hsa-miR-4761-3p	CLIP-seq
MIRT816858	hsa-miR-520d-5p	CLIP-seq
MIRT816859	hsa-miR-524-5p	CLIP-seq
MIRT816860	hsa-miR-548g	CLIP-seq
MIRT816861	hsa-miR-578	CLIP-seq
MIRT816862	hsa-miR-665	CLIP-seq
MIRT816863	hsa-miR-767-3p	CLIP-seq
MIRT816864	hsa-miR-892a	CLIP-seq
MIRT816865	hsa-miR-939	CLIP-seq
MIRT816829	hsa-miR-134	CLIP-seq
MIRT816840	hsa-miR-3545-3p	CLIP-seq
MIRT816829	hsa-miR-134	CLIP-seq
MIRT816840	hsa-miR-3545-3p	CLIP-seq
MIRT816829	hsa-miR-134	CLIP-seq
MIRT816840	hsa-miR-3545-3p	CLIP-seq
MIRT816829	hsa-miR-134	CLIP-seq
MIRT816832	hsa-miR-185	CLIP-seq
MIRT816833	hsa-miR-28-3p	CLIP-seq
MIRT816834	hsa-miR-2861	CLIP-seq
MIRT816836	hsa-miR-3123	CLIP-seq
MIRT816840	hsa-miR-3545-3p	CLIP-seq
MIRT816843	hsa-miR-370	CLIP-seq
MIRT816845	hsa-miR-3925-5p	CLIP-seq
MIRT816847	hsa-miR-4306	CLIP-seq
MIRT816849	hsa-miR-4505	CLIP-seq
MIRT816851	hsa-miR-4644	CLIP-seq
MIRT1941547	hsa-miR-670	CLIP-seq
MIRT816863	hsa-miR-767-3p	CLIP-seq
MIRT816865	hsa-miR-939	CLIP-seq
MIRT2180276	hsa-miR-1184	CLIP-seq
MIRT2180277	hsa-miR-1206	CLIP-seq
MIRT2180278	hsa-miR-125a-3p	CLIP-seq
MIRT2180279	hsa-miR-1285	CLIP-seq
MIRT816829	hsa-miR-134	CLIP-seq
MIRT2180280	hsa-miR-140-5p	CLIP-seq
MIRT2180281	hsa-miR-1909	CLIP-seq
MIRT2180282	hsa-miR-27a	CLIP-seq
MIRT2180283	hsa-miR-27b	CLIP-seq
MIRT2180284	hsa-miR-3074-3p	CLIP-seq
MIRT2180285	hsa-miR-3126-5p	CLIP-seq
MIRT2180286	hsa-miR-3127-3p	CLIP-seq
MIRT2180287	hsa-miR-3187-5p	CLIP-seq
MIRT816840	hsa-miR-3545-3p	CLIP-seq
MIRT2180288	hsa-miR-3545-5p	CLIP-seq
MIRT2180289	hsa-miR-3934	CLIP-seq
MIRT2180290	hsa-miR-3945	CLIP-seq
MIRT2180291	hsa-miR-421	CLIP-seq
MIRT2180292	hsa-miR-425	CLIP-seq
MIRT2180293	hsa-miR-4253	CLIP-seq
MIRT2180294	hsa-miR-4270	CLIP-seq
MIRT2180295	hsa-miR-4277	CLIP-seq
MIRT2180296	hsa-miR-4292	CLIP-seq
MIRT2180297	hsa-miR-4308	CLIP-seq
MIRT2180298	hsa-miR-4311	CLIP-seq
MIRT2180299	hsa-miR-4419a	CLIP-seq
MIRT2180300	hsa-miR-4441	CLIP-seq
MIRT2180301	hsa-miR-4460	CLIP-seq
MIRT2180302	hsa-miR-4492	CLIP-seq
MIRT2180303	hsa-miR-4498	CLIP-seq
MIRT2180304	hsa-miR-4510	CLIP-seq
MIRT2180305	hsa-miR-4536	CLIP-seq
MIRT2180306	hsa-miR-4640-3p	CLIP-seq
MIRT2180307	hsa-miR-4660	CLIP-seq
MIRT2180308	hsa-miR-4709-5p	CLIP-seq
MIRT2180309	hsa-miR-4727-3p	CLIP-seq
MIRT2180310	hsa-miR-505	CLIP-seq
MIRT2180311	hsa-miR-513a-5p	CLIP-seq
MIRT2180312	hsa-miR-549	CLIP-seq
MIRT2180313	hsa-miR-564	CLIP-seq
MIRT2180314	hsa-miR-612	CLIP-seq
MIRT2180315	hsa-miR-646	CLIP-seq
MIRT2180316	hsa-miR-654-3p	CLIP-seq
MIRT1941547	hsa-miR-670	CLIP-seq
MIRT2180317	hsa-miR-762	CLIP-seq
MIRT2180318	hsa-miR-764	CLIP-seq
MIRT816829	hsa-miR-134	CLIP-seq
MIRT816840	hsa-miR-3545-3p	CLIP-seq
MIRT816865	hsa-miR-939	CLIP-seq
MIRT2444649	hsa-miR-1264	CLIP-seq
MIRT816844	hsa-miR-3919	CLIP-seq
MIRT816846	hsa-miR-3942-3p	CLIP-seq
MIRT816856	hsa-miR-4756-3p	CLIP-seq
MIRT2180276	hsa-miR-1184	CLIP-seq
MIRT2180277	hsa-miR-1206	CLIP-seq
MIRT2483647	hsa-miR-1226	CLIP-seq
MIRT2483648	hsa-miR-1229	CLIP-seq
MIRT2180279	hsa-miR-1285	CLIP-seq
MIRT2483649	hsa-miR-1291	CLIP-seq
MIRT816830	hsa-miR-1343	CLIP-seq
MIRT2180280	hsa-miR-140-5p	CLIP-seq
MIRT816831	hsa-miR-1587	CLIP-seq
MIRT816832	hsa-miR-185	CLIP-seq
MIRT2483650	hsa-miR-1976	CLIP-seq
MIRT2483651	hsa-miR-216a	CLIP-seq
MIRT2483652	hsa-miR-2467-5p	CLIP-seq
MIRT816833	hsa-miR-28-3p	CLIP-seq
MIRT2483653	hsa-miR-28-5p	CLIP-seq
MIRT2180284	hsa-miR-3074-3p	CLIP-seq
MIRT816835	hsa-miR-3074-5p	CLIP-seq
MIRT816836	hsa-miR-3123	CLIP-seq
MIRT2483654	hsa-miR-3124-3p	CLIP-seq
MIRT2483655	hsa-miR-3135b	CLIP-seq
MIRT2483656	hsa-miR-3139	CLIP-seq
MIRT2483657	hsa-miR-3150b-3p	CLIP-seq
MIRT2483658	hsa-miR-3151	CLIP-seq
MIRT2483659	hsa-miR-3160-5p	CLIP-seq
MIRT2483660	hsa-miR-3183	CLIP-seq
MIRT2180287	hsa-miR-3187-5p	CLIP-seq
MIRT2483661	hsa-miR-324-5p	CLIP-seq
MIRT2483662	hsa-miR-328	CLIP-seq
MIRT2483663	hsa-miR-339-5p	CLIP-seq
MIRT2180288	hsa-miR-3545-5p	CLIP-seq
MIRT2483664	hsa-miR-3652	CLIP-seq
MIRT2483665	hsa-miR-3667-3p	CLIP-seq
MIRT816842	hsa-miR-3692	CLIP-seq
MIRT816843	hsa-miR-370	CLIP-seq
MIRT2483666	hsa-miR-378g	CLIP-seq
MIRT816845	hsa-miR-3925-5p	CLIP-seq
MIRT2180290	hsa-miR-3945	CLIP-seq
MIRT2180291	hsa-miR-421	CLIP-seq
MIRT2180292	hsa-miR-425	CLIP-seq
MIRT2180293	hsa-miR-4253	CLIP-seq
MIRT2483667	hsa-miR-4266	CLIP-seq
MIRT2483668	hsa-miR-4267	CLIP-seq
MIRT2180294	hsa-miR-4270	CLIP-seq
MIRT2483669	hsa-miR-4283	CLIP-seq
MIRT2483670	hsa-miR-4297	CLIP-seq
MIRT816847	hsa-miR-4306	CLIP-seq
MIRT2180298	hsa-miR-4311	CLIP-seq
MIRT2483671	hsa-miR-4314	CLIP-seq
MIRT2483672	hsa-miR-4417	CLIP-seq
MIRT2483673	hsa-miR-4428	CLIP-seq
MIRT2483674	hsa-miR-4430	CLIP-seq
MIRT2483675	hsa-miR-4433	CLIP-seq
MIRT2180300	hsa-miR-4441	CLIP-seq
MIRT2483676	hsa-miR-4459	CLIP-seq
MIRT2180301	hsa-miR-4460	CLIP-seq
MIRT2483677	hsa-miR-4466	CLIP-seq
MIRT2483678	hsa-miR-4481	CLIP-seq
MIRT2483679	hsa-miR-4486	CLIP-seq
MIRT2483680	hsa-miR-4489	CLIP-seq
MIRT2180302	hsa-miR-4492	CLIP-seq
MIRT2180303	hsa-miR-4498	CLIP-seq
MIRT2483681	hsa-miR-451b	CLIP-seq
MIRT816850	hsa-miR-452	CLIP-seq
MIRT2180305	hsa-miR-4536	CLIP-seq
MIRT816851	hsa-miR-4644	CLIP-seq
MIRT2483682	hsa-miR-4656	CLIP-seq
MIRT2483683	hsa-miR-4675	CLIP-seq
MIRT816854	hsa-miR-4676-3p	CLIP-seq
MIRT2483684	hsa-miR-4685-5p	CLIP-seq
MIRT2483685	hsa-miR-4690-3p	CLIP-seq
MIRT2483686	hsa-miR-4695-5p	CLIP-seq
MIRT2483687	hsa-miR-4707-3p	CLIP-seq
MIRT2180308	hsa-miR-4709-5p	CLIP-seq
MIRT2483688	hsa-miR-4723-3p	CLIP-seq
MIRT2180309	hsa-miR-4727-3p	CLIP-seq
MIRT2483689	hsa-miR-4741	CLIP-seq
MIRT2483690	hsa-miR-4745-5p	CLIP-seq
MIRT2483691	hsa-miR-4758-5p	CLIP-seq
MIRT2483692	hsa-miR-4768-3p	CLIP-seq
MIRT2483693	hsa-miR-4784	CLIP-seq
MIRT2180310	hsa-miR-505	CLIP-seq
MIRT2483694	hsa-miR-508-5p	CLIP-seq
MIRT816858	hsa-miR-520d-5p	CLIP-seq
MIRT816859	hsa-miR-524-5p	CLIP-seq
MIRT816860	hsa-miR-548g	CLIP-seq
MIRT2483695	hsa-miR-548q	CLIP-seq
MIRT2180312	hsa-miR-549	CLIP-seq
MIRT2180313	hsa-miR-564	CLIP-seq
MIRT816861	hsa-miR-578	CLIP-seq
MIRT2483696	hsa-miR-610	CLIP-seq
MIRT2180314	hsa-miR-612	CLIP-seq
MIRT2180315	hsa-miR-646	CLIP-seq
MIRT2483697	hsa-miR-651	CLIP-seq
MIRT2483698	hsa-miR-675	CLIP-seq
MIRT2483699	hsa-miR-708	CLIP-seq
MIRT2180317	hsa-miR-762	CLIP-seq
MIRT816864	hsa-miR-892a	CLIP-seq
MIRT816865	hsa-miR-939	CLIP-seq
MIRT2180276	hsa-miR-1184	CLIP-seq
MIRT2180277	hsa-miR-1206	CLIP-seq
MIRT2483648	hsa-miR-1229	CLIP-seq
MIRT2180279	hsa-miR-1285	CLIP-seq
MIRT2483649	hsa-miR-1291	CLIP-seq
MIRT816830	hsa-miR-1343	CLIP-seq
MIRT2180280	hsa-miR-140-5p	CLIP-seq
MIRT2675877	hsa-miR-150	CLIP-seq
MIRT816831	hsa-miR-1587	CLIP-seq
MIRT816832	hsa-miR-185	CLIP-seq
MIRT2483650	hsa-miR-1976	CLIP-seq
MIRT816833	hsa-miR-28-3p	CLIP-seq
MIRT2180284	hsa-miR-3074-3p	CLIP-seq
MIRT816835	hsa-miR-3074-5p	CLIP-seq
MIRT816836	hsa-miR-3123	CLIP-seq
MIRT2483654	hsa-miR-3124-3p	CLIP-seq
MIRT2483657	hsa-miR-3150b-3p	CLIP-seq
MIRT2483659	hsa-miR-3160-5p	CLIP-seq
MIRT2483660	hsa-miR-3183	CLIP-seq
MIRT2180287	hsa-miR-3187-5p	CLIP-seq
MIRT2675878	hsa-miR-323-3p	CLIP-seq
MIRT2483661	hsa-miR-324-5p	CLIP-seq
MIRT2483662	hsa-miR-328	CLIP-seq
MIRT2483663	hsa-miR-339-5p	CLIP-seq
MIRT2180288	hsa-miR-3545-5p	CLIP-seq
MIRT2483665	hsa-miR-3667-3p	CLIP-seq
MIRT816842	hsa-miR-3692	CLIP-seq
MIRT816843	hsa-miR-370	CLIP-seq
MIRT2483666	hsa-miR-378g	CLIP-seq
MIRT816845	hsa-miR-3925-5p	CLIP-seq
MIRT2180290	hsa-miR-3945	CLIP-seq
MIRT2675879	hsa-miR-410	CLIP-seq
MIRT2180291	hsa-miR-421	CLIP-seq
MIRT2180292	hsa-miR-425	CLIP-seq
MIRT2180293	hsa-miR-4253	CLIP-seq
MIRT2180294	hsa-miR-4270	CLIP-seq
MIRT2180296	hsa-miR-4292	CLIP-seq
MIRT2483670	hsa-miR-4297	CLIP-seq
MIRT816847	hsa-miR-4306	CLIP-seq
MIRT2180298	hsa-miR-4311	CLIP-seq
MIRT2483671	hsa-miR-4314	CLIP-seq
MIRT2483672	hsa-miR-4417	CLIP-seq
MIRT2483673	hsa-miR-4428	CLIP-seq
MIRT2483675	hsa-miR-4433	CLIP-seq
MIRT2180300	hsa-miR-4441	CLIP-seq
MIRT2483676	hsa-miR-4459	CLIP-seq
MIRT2180301	hsa-miR-4460	CLIP-seq
MIRT2483677	hsa-miR-4466	CLIP-seq
MIRT2483678	hsa-miR-4481	CLIP-seq
MIRT2483679	hsa-miR-4486	CLIP-seq
MIRT2180302	hsa-miR-4492	CLIP-seq
MIRT2180303	hsa-miR-4498	CLIP-seq
MIRT2675880	hsa-miR-4501	CLIP-seq
MIRT2483681	hsa-miR-451b	CLIP-seq
MIRT816850	hsa-miR-452	CLIP-seq
MIRT2675881	hsa-miR-4528	CLIP-seq
MIRT2180305	hsa-miR-4536	CLIP-seq
MIRT816851	hsa-miR-4644	CLIP-seq
MIRT2483682	hsa-miR-4656	CLIP-seq
MIRT2483683	hsa-miR-4675	CLIP-seq
MIRT816854	hsa-miR-4676-3p	CLIP-seq
MIRT2483684	hsa-miR-4685-5p	CLIP-seq
MIRT2483685	hsa-miR-4690-3p	CLIP-seq
MIRT2483687	hsa-miR-4707-3p	CLIP-seq
MIRT2180308	hsa-miR-4709-5p	CLIP-seq
MIRT2675882	hsa-miR-4713-5p	CLIP-seq
MIRT2483688	hsa-miR-4723-3p	CLIP-seq
MIRT2180309	hsa-miR-4727-3p	CLIP-seq
MIRT2483689	hsa-miR-4741	CLIP-seq
MIRT2483690	hsa-miR-4745-5p	CLIP-seq
MIRT2483691	hsa-miR-4758-5p	CLIP-seq
MIRT2483692	hsa-miR-4768-3p	CLIP-seq
MIRT2483693	hsa-miR-4784	CLIP-seq
MIRT2180310	hsa-miR-505	CLIP-seq
MIRT2483694	hsa-miR-508-5p	CLIP-seq
MIRT816858	hsa-miR-520d-5p	CLIP-seq
MIRT816859	hsa-miR-524-5p	CLIP-seq
MIRT2675883	hsa-miR-532-3p	CLIP-seq
MIRT816860	hsa-miR-548g	CLIP-seq
MIRT2483695	hsa-miR-548q	CLIP-seq
MIRT2180312	hsa-miR-549	CLIP-seq
MIRT2180313	hsa-miR-564	CLIP-seq
MIRT816861	hsa-miR-578	CLIP-seq
MIRT2483696	hsa-miR-610	CLIP-seq
MIRT2180314	hsa-miR-612	CLIP-seq
MIRT2180316	hsa-miR-654-3p	CLIP-seq
MIRT2483698	hsa-miR-675	CLIP-seq
MIRT2180317	hsa-miR-762	CLIP-seq
MIRT816864	hsa-miR-892a	CLIP-seq
MIRT816865	hsa-miR-939	CLIP-seq

Show/Hide all(68)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001895	Process	Retina homeostasis	IEA
GO:0001895	Process	Retina homeostasis	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005113	Function	Patched binding	IBA
GO:0005113	Function	Patched binding	IPI	22228099
GO:0005119	Function	Smoothened binding	IBA
GO:0005119	Function	Smoothened binding	IPI	22228099
GO:0005515	Function	Protein binding	IPI	16327777, 17574030, 18000879, 18762586, 19081074, 19150989, 20080638, 20603001, 22139371, 22500027, 24939912, 25402481, 25552655, 27173435, 29039417, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	18762586
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007608	Process	Sensory perception of smell	IEA
GO:0007608	Process	Sensory perception of smell	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008594	Process	Photoreceptor cell morphogenesis	IEA
GO:0009566	Process	Fertilization	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016358	Process	Dendrite development	IEA
GO:0021591	Process	Ventricular system development	IEA
GO:0021756	Process	Striatum development	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030534	Process	Adult behavior	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0034451	Component	Centriolar satellite	IEA
GO:0034464	Component	BBSome	IBA
GO:0034464	Component	BBSome	IDA	17574030, 20080638, 24550735
GO:0034464	Component	BBSome	IEA
GO:0034464	Component	BBSome	IPI	19081074
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0042048	Process	Olfactory behavior	IEA
GO:0042445	Process	Hormone metabolic process	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043001	Process	Golgi to plasma membrane protein transport	IMP	19150989
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IMP	17980398
GO:0048854	Process	Brain morphogenesis	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051219	Function	Phosphoprotein binding	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060170	Component	Ciliary membrane	IDA	19081074
GO:0060170	Component	Ciliary membrane	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	17574030
GO:0060271	Process	Cilium assembly	NAS	19081074
GO:0060296	Process	Regulation of cilium beat frequency involved in ciliary motility	IEA
GO:0061351	Process	Neural precursor cell proliferation	IEA
GO:0061512	Process	Protein localization to cilium	IBA
GO:0061512	Process	Protein localization to cilium	IMP	23943788
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	22302990
GO:1905515	Process	Non-motile cilium assembly	IBA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1905515	Process	Non-motile cilium assembly	IMP	17980398

MIM	HGNC	e!Ensembl
209901	966	ENSG00000174483

Protein

UniProt ID

Q8NFJ9

Protein name

BBSome complex member BBS1 (BBS2-like protein 2) (Bardet-Biedl syndrome 1 protein)

Protein function

The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This cilio

PDB

6XT9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14779	BBS1	23 → 276	Ciliary BBSome complex subunit 1	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas.

Sequence

MAAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALADLHGDGEYKLVVGDLG
PGGQQPRLKVLKGPLVMTESPLPALPAAAATFLMEQHEPRTPALALASGPCVYVYKNLRP
YFKFSLPQLPPNPLEQDLWNQAKEDRIDPLTLKEMLESIRETAEEPLSIQSLRFLQLELS
EMEAFVNQHKSNSIKRQTVITTMTTLKKNLADEDAVSCLVLGTENKELLVLDPEAFTILA
KMSLPSVPVFLEVSGQFDVEFRLAAACRNGNIYILRRDSKHPKYCIELSAQPVGLIRVHK
VLVVGSTQDSLHGFTHKGKKLWTVQMPAAILTMNLLEQHSRGLQAVMAGLANGEVRIYRD
KALLNVIHTPDAVTSLCFGRYGREDNTLIMTTRGGGLIIKILKRTAVFVEGGSEVGPPPA
QAMKLNVPRKTRLYVDQTLREREAGTAMHRAFQTDLYLLRLRAARAYLQALESSLSPLST
TAREPLKLHAVVQGLGPTFKLTLHLQNTSTTRPVLGLLVCFLYNEALYSLPRAFFKVPLL
VPGLNYPLETFVESLSNKGISDIIKVLVLREGQSAPLLSAHVNMPGSEGLAAA

Sequence length

593

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, Bardet-Biedl syndrome 1	rs746875134, rs794727006, rs1490351829, rs748523268, rs1555049893, rs113624356, rs183771956, rs773632109, rs1057516449, rs113994178, rs1565286202, rs1555047786, rs1057516933, rs863224782, rs1590772920 View all (61 more)	N/A
retinal dystrophy	Retinal dystrophy	rs1856787758, rs746875134, rs113624356, rs1856790811, rs772917364, rs1856202628, rs786204444, rs786204701, rs1856699646, rs1166022838, rs1057516451, rs745656125, rs794727006, rs376894444, rs1856478505	N/A
Retinitis Pigmentosa	retinitis pigmentosa	rs113624356, rs1856758582, rs762276925, rs121917777, rs1160669210, rs1555050487, rs376894444, rs1555049194	N/A
Usher Syndrome	usher syndrome	rs113624356	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Insomnia	Insomnia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Albinism	Associate	39596324
Asperger Syndrome	Associate	22940089
Atrophy	Associate	22940089
Bardet Biedl Syndrome	Associate	10577922, 12016587, 12567324, 12677556, 15666242, 17980398, 20177705, 21052717, 21209035, 22773737, 22940089, 22998390, 23559858, 24611735, 25402481 View all (15 more)
Cardiovascular Diseases	Associate	24611735
Chronic Kidney Disease Mineral and Bone Disorder	Associate	27659767
Ciliopathies	Associate	35764379, 39596324
Cone Rod Dystrophies	Associate	34940782
Cranioectodermal Dysplasia	Associate	33369054
Depressive Disorder	Associate	22940089
Glycosuria Renal	Associate	35960079
Gyrate Atrophy	Associate	39596324
Hypertensive Retinopathy	Associate	22940089
Lung agenesis	Associate	35695966
Lung Diseases	Associate	35695966
Meckel syndrome type 1	Associate	22998390
Mesothelioma	Associate	26254420
Mesothelioma Malignant	Associate	26254420
Neoplasm Metastasis	Associate	26965286
Nijmegen Breakage Syndrome	Associate	12677556, 35886001
Nystagmus Pathologic	Associate	22940089
Obesity	Associate	24081230, 29217499, 33921825
Respiratory Insufficiency	Associate	35695966
Retinal Dystrophies	Associate	28143435, 39596324
Retinitis Pigmentosa	Associate	25494902
Scotoma	Associate	22940089
Senior Loken Syndrome	Associate	35695966

BBS1 (Bardet-Biedl syndrome 1)