CHRNB1 (cholinergic receptor nicotinic beta 1 subunit)

Gene

• Entrez ID: 1140
• Gene name: Cholinergic receptor nicotinic beta 1 subunit
• Gene symbol: CHRNB1
• Synonyms (NCBI Gene): ACHRB, CHRNB, CMS1D, CMS2A, CMS2C, SCCMS
• Chromosome: 17
• Chromosome location: 17p13.1
• Summary: The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acety

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs75019736	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs137852810	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs137852811	C>A	Pathogenic	Coding sequence variant, missense variant
rs199875082	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs201033437	C>G,T	Pathogenic, uncertain-significance	Synonymous variant, stop gained, coding sequence variant
rs766823872	G>A	Pathogenic	Coding sequence variant, stop gained
rs781689096	CTC>-	Conflicting-interpretations-of-pathogenicity	Intron variant
rs886041490	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131691957	GATTC>ACG	Pathogenic	Frameshift variant, coding sequence variant
rs1555552004	TC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597749210	G>A	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004951	hsa-miR-98-5p	qRT-PCR	17942906
MIRT695097	hsa-miR-590-3p	HITS-CLIP	23313552
MIRT695096	hsa-miR-1228-3p	HITS-CLIP	23313552
MIRT695095	hsa-miR-6765-3p	HITS-CLIP	23313552
MIRT695094	hsa-miR-4735-5p	HITS-CLIP	23313552
MIRT695093	hsa-miR-4794	HITS-CLIP	23313552
MIRT695092	hsa-miR-664a-5p	HITS-CLIP	23313552
MIRT695091	hsa-miR-4775	HITS-CLIP	23313552
MIRT695090	hsa-miR-3149	HITS-CLIP	23313552
MIRT695089	hsa-miR-4701-5p	HITS-CLIP	23313552
MIRT530683	hsa-miR-4524b-3p	PAR-CLIP	21572407
MIRT530682	hsa-miR-1182	PAR-CLIP	21572407
MIRT530681	hsa-miR-4781-3p	PAR-CLIP	21572407
MIRT530680	hsa-miR-1304-3p	PAR-CLIP	21572407
MIRT530679	hsa-miR-3663-5p	PAR-CLIP	21572407
MIRT530678	hsa-miR-4524a-3p	PAR-CLIP	21572407
MIRT530677	hsa-miR-6131	PAR-CLIP	21572407
MIRT530676	hsa-miR-6501-5p	PAR-CLIP	21572407
MIRT530675	hsa-miR-4423-5p	PAR-CLIP	21572407
MIRT530674	hsa-miR-6843-3p	PAR-CLIP	21572407
MIRT530673	hsa-miR-6848-3p	PAR-CLIP	21572407
MIRT530672	hsa-miR-744-3p	PAR-CLIP	21572407
MIRT530671	hsa-miR-1303	PAR-CLIP	21572407
MIRT530683	hsa-miR-4524b-3p	PAR-CLIP	21572407
MIRT530682	hsa-miR-1182	PAR-CLIP	21572407
MIRT530681	hsa-miR-4781-3p	PAR-CLIP	21572407
MIRT530680	hsa-miR-1304-3p	PAR-CLIP	21572407
MIRT530678	hsa-miR-4524a-3p	PAR-CLIP	21572407
MIRT530676	hsa-miR-6501-5p	PAR-CLIP	21572407
MIRT530675	hsa-miR-4423-5p	PAR-CLIP	21572407
MIRT530672	hsa-miR-744-3p	PAR-CLIP	21572407
MIRT530671	hsa-miR-1303	PAR-CLIP	21572407
MIRT530683	hsa-miR-4524b-3p	PAR-CLIP	22012620
MIRT530682	hsa-miR-1182	PAR-CLIP	22012620
MIRT530681	hsa-miR-4781-3p	PAR-CLIP	22012620
MIRT530680	hsa-miR-1304-3p	PAR-CLIP	22012620
MIRT530679	hsa-miR-3663-5p	PAR-CLIP	22012620
MIRT530678	hsa-miR-4524a-3p	PAR-CLIP	22012620
MIRT530677	hsa-miR-6131	PAR-CLIP	22012620
MIRT530676	hsa-miR-6501-5p	PAR-CLIP	22012620
MIRT530675	hsa-miR-4423-5p	PAR-CLIP	22012620
MIRT530674	hsa-miR-6843-3p	PAR-CLIP	22012620
MIRT530673	hsa-miR-6848-3p	PAR-CLIP	22012620
MIRT530672	hsa-miR-744-3p	PAR-CLIP	22012620
MIRT530671	hsa-miR-1303	PAR-CLIP	22012620
MIRT695097	hsa-miR-590-3p	HITS-CLIP	23313552
MIRT695096	hsa-miR-1228-3p	HITS-CLIP	23313552
MIRT695095	hsa-miR-6765-3p	HITS-CLIP	23313552
MIRT695094	hsa-miR-4735-5p	HITS-CLIP	23313552
MIRT695093	hsa-miR-4794	HITS-CLIP	23313552
MIRT695092	hsa-miR-664a-5p	HITS-CLIP	23313552
MIRT695091	hsa-miR-4775	HITS-CLIP	23313552
MIRT695090	hsa-miR-3149	HITS-CLIP	23313552
MIRT695089	hsa-miR-4701-5p	HITS-CLIP	23313552
MIRT530683	hsa-miR-4524b-3p	PAR-CLIP	21572407
MIRT530682	hsa-miR-1182	PAR-CLIP	21572407
MIRT530681	hsa-miR-4781-3p	PAR-CLIP	21572407
MIRT530680	hsa-miR-1304-3p	PAR-CLIP	21572407
MIRT530679	hsa-miR-3663-5p	PAR-CLIP	21572407
MIRT530678	hsa-miR-4524a-3p	PAR-CLIP	21572407
MIRT530677	hsa-miR-6131	PAR-CLIP	21572407
MIRT530676	hsa-miR-6501-5p	PAR-CLIP	21572407
MIRT530675	hsa-miR-4423-5p	PAR-CLIP	21572407
MIRT530674	hsa-miR-6843-3p	PAR-CLIP	21572407
MIRT530673	hsa-miR-6848-3p	PAR-CLIP	21572407
MIRT530672	hsa-miR-744-3p	PAR-CLIP	21572407
MIRT530671	hsa-miR-1303	PAR-CLIP	21572407
MIRT530683	hsa-miR-4524b-3p	PAR-CLIP	21572407
MIRT530682	hsa-miR-1182	PAR-CLIP	21572407
MIRT530681	hsa-miR-4781-3p	PAR-CLIP	21572407
MIRT530680	hsa-miR-1304-3p	PAR-CLIP	21572407
MIRT530678	hsa-miR-4524a-3p	PAR-CLIP	21572407
MIRT530676	hsa-miR-6501-5p	PAR-CLIP	21572407
MIRT530675	hsa-miR-4423-5p	PAR-CLIP	21572407
MIRT530672	hsa-miR-744-3p	PAR-CLIP	21572407
MIRT530671	hsa-miR-1303	PAR-CLIP	21572407
MIRT530683	hsa-miR-4524b-3p	PAR-CLIP	22012620
MIRT530682	hsa-miR-1182	PAR-CLIP	22012620
MIRT530681	hsa-miR-4781-3p	PAR-CLIP	22012620
MIRT530680	hsa-miR-1304-3p	PAR-CLIP	22012620
MIRT530679	hsa-miR-3663-5p	PAR-CLIP	22012620
MIRT530678	hsa-miR-4524a-3p	PAR-CLIP	22012620
MIRT530677	hsa-miR-6131	PAR-CLIP	22012620
MIRT530676	hsa-miR-6501-5p	PAR-CLIP	22012620
MIRT530675	hsa-miR-4423-5p	PAR-CLIP	22012620
MIRT530674	hsa-miR-6843-3p	PAR-CLIP	22012620
MIRT530673	hsa-miR-6848-3p	PAR-CLIP	22012620
MIRT530672	hsa-miR-744-3p	PAR-CLIP	22012620
MIRT530671	hsa-miR-1303	PAR-CLIP	22012620
MIRT891927	hsa-miR-106a	CLIP-seq
MIRT891928	hsa-miR-106b	CLIP-seq
MIRT891929	hsa-miR-122	CLIP-seq
MIRT891930	hsa-miR-125a-3p	CLIP-seq
MIRT891931	hsa-miR-1273f	CLIP-seq
MIRT891932	hsa-miR-129-5p	CLIP-seq
MIRT891933	hsa-miR-130a	CLIP-seq
MIRT891934	hsa-miR-130b	CLIP-seq
MIRT891935	hsa-miR-136	CLIP-seq
MIRT891936	hsa-miR-143	CLIP-seq
MIRT891937	hsa-miR-150	CLIP-seq
MIRT891938	hsa-miR-17	CLIP-seq
MIRT891939	hsa-miR-20a	CLIP-seq
MIRT891940	hsa-miR-20b	CLIP-seq
MIRT891941	hsa-miR-301a	CLIP-seq
MIRT891942	hsa-miR-301b	CLIP-seq
MIRT891943	hsa-miR-302a	CLIP-seq
MIRT891944	hsa-miR-302b	CLIP-seq
MIRT891945	hsa-miR-302c	CLIP-seq
MIRT891946	hsa-miR-302d	CLIP-seq
MIRT891947	hsa-miR-302e	CLIP-seq
MIRT891948	hsa-miR-3135b	CLIP-seq
MIRT891949	hsa-miR-3652	CLIP-seq
MIRT891950	hsa-miR-3666	CLIP-seq
MIRT891951	hsa-miR-371-5p	CLIP-seq
MIRT891952	hsa-miR-371b-5p	CLIP-seq
MIRT891953	hsa-miR-372	CLIP-seq
MIRT891954	hsa-miR-373	CLIP-seq
MIRT891955	hsa-miR-3934	CLIP-seq
MIRT891956	hsa-miR-3944-3p	CLIP-seq
MIRT891957	hsa-miR-4295	CLIP-seq
MIRT891958	hsa-miR-4318	CLIP-seq
MIRT891959	hsa-miR-4430	CLIP-seq
MIRT891960	hsa-miR-4438	CLIP-seq
MIRT891961	hsa-miR-4454	CLIP-seq
MIRT891962	hsa-miR-4492	CLIP-seq
MIRT891963	hsa-miR-4498	CLIP-seq
MIRT891964	hsa-miR-4534	CLIP-seq
MIRT891965	hsa-miR-454	CLIP-seq
MIRT891966	hsa-miR-4653-3p	CLIP-seq
MIRT891967	hsa-miR-4707-3p	CLIP-seq
MIRT891968	hsa-miR-4708-5p	CLIP-seq
MIRT891969	hsa-miR-4716-5p	CLIP-seq
MIRT891970	hsa-miR-4731-5p	CLIP-seq
MIRT891971	hsa-miR-4757-5p	CLIP-seq
MIRT891972	hsa-miR-4770	CLIP-seq
MIRT891973	hsa-miR-5095	CLIP-seq
MIRT891974	hsa-miR-512-3p	CLIP-seq
MIRT891975	hsa-miR-515-5p	CLIP-seq
MIRT891976	hsa-miR-519d	CLIP-seq
MIRT891977	hsa-miR-520a-3p	CLIP-seq
MIRT891978	hsa-miR-520b	CLIP-seq
MIRT891979	hsa-miR-520c-3p	CLIP-seq
MIRT891980	hsa-miR-520d-3p	CLIP-seq
MIRT891981	hsa-miR-520e	CLIP-seq
MIRT891982	hsa-miR-520g	CLIP-seq
MIRT891983	hsa-miR-520h	CLIP-seq
MIRT891984	hsa-miR-548g	CLIP-seq
MIRT891985	hsa-miR-762	CLIP-seq
MIRT891986	hsa-miR-764	CLIP-seq
MIRT891987	hsa-miR-93	CLIP-seq
MIRT891929	hsa-miR-122	CLIP-seq
MIRT891931	hsa-miR-1273f	CLIP-seq
MIRT891932	hsa-miR-129-5p	CLIP-seq
MIRT891933	hsa-miR-130a	CLIP-seq
MIRT891934	hsa-miR-130b	CLIP-seq
MIRT891936	hsa-miR-143	CLIP-seq
MIRT1964334	hsa-miR-1976	CLIP-seq
MIRT891941	hsa-miR-301a	CLIP-seq
MIRT891942	hsa-miR-301b	CLIP-seq
MIRT891948	hsa-miR-3135b	CLIP-seq
MIRT1964335	hsa-miR-325	CLIP-seq
MIRT891949	hsa-miR-3652	CLIP-seq
MIRT891950	hsa-miR-3666	CLIP-seq
MIRT891951	hsa-miR-371-5p	CLIP-seq
MIRT891952	hsa-miR-371b-5p	CLIP-seq
MIRT1964336	hsa-miR-4279	CLIP-seq
MIRT891957	hsa-miR-4295	CLIP-seq
MIRT891959	hsa-miR-4430	CLIP-seq
MIRT891960	hsa-miR-4438	CLIP-seq
MIRT1964337	hsa-miR-4503	CLIP-seq
MIRT891964	hsa-miR-4534	CLIP-seq
MIRT891965	hsa-miR-454	CLIP-seq
MIRT891966	hsa-miR-4653-3p	CLIP-seq
MIRT891968	hsa-miR-4708-5p	CLIP-seq
MIRT1964338	hsa-miR-4722-3p	CLIP-seq
MIRT1964339	hsa-miR-4765	CLIP-seq
MIRT891972	hsa-miR-4770	CLIP-seq
MIRT891973	hsa-miR-5095	CLIP-seq
MIRT891927	hsa-miR-106a	CLIP-seq
MIRT891928	hsa-miR-106b	CLIP-seq
MIRT891929	hsa-miR-122	CLIP-seq
MIRT2200458	hsa-miR-1224-3p	CLIP-seq
MIRT891930	hsa-miR-125a-3p	CLIP-seq
MIRT2200459	hsa-miR-1260	CLIP-seq
MIRT2200460	hsa-miR-1260b	CLIP-seq
MIRT2200461	hsa-miR-1280	CLIP-seq
MIRT891933	hsa-miR-130a	CLIP-seq
MIRT891934	hsa-miR-130b	CLIP-seq
MIRT891935	hsa-miR-136	CLIP-seq
MIRT891937	hsa-miR-150	CLIP-seq
MIRT891938	hsa-miR-17	CLIP-seq
MIRT2200462	hsa-miR-193a-3p	CLIP-seq
MIRT2200463	hsa-miR-193b	CLIP-seq
MIRT1964334	hsa-miR-1976	CLIP-seq
MIRT891939	hsa-miR-20a	CLIP-seq
MIRT891940	hsa-miR-20b	CLIP-seq
MIRT2200464	hsa-miR-224	CLIP-seq
MIRT891941	hsa-miR-301a	CLIP-seq
MIRT891942	hsa-miR-301b	CLIP-seq
MIRT891943	hsa-miR-302a	CLIP-seq
MIRT891944	hsa-miR-302b	CLIP-seq
MIRT891945	hsa-miR-302c	CLIP-seq
MIRT891946	hsa-miR-302d	CLIP-seq
MIRT891947	hsa-miR-302e	CLIP-seq
MIRT891948	hsa-miR-3135b	CLIP-seq
MIRT1964335	hsa-miR-325	CLIP-seq
MIRT891949	hsa-miR-3652	CLIP-seq
MIRT891950	hsa-miR-3666	CLIP-seq
MIRT2200465	hsa-miR-3680	CLIP-seq
MIRT2200466	hsa-miR-3691-3p	CLIP-seq
MIRT891951	hsa-miR-371-5p	CLIP-seq
MIRT891952	hsa-miR-371b-5p	CLIP-seq
MIRT891953	hsa-miR-372	CLIP-seq
MIRT891954	hsa-miR-373	CLIP-seq
MIRT891955	hsa-miR-3934	CLIP-seq
MIRT891956	hsa-miR-3944-3p	CLIP-seq
MIRT2200467	hsa-miR-411	CLIP-seq
MIRT1964336	hsa-miR-4279	CLIP-seq
MIRT891957	hsa-miR-4295	CLIP-seq
MIRT891959	hsa-miR-4430	CLIP-seq
MIRT891960	hsa-miR-4438	CLIP-seq
MIRT2200468	hsa-miR-4444	CLIP-seq
MIRT891961	hsa-miR-4454	CLIP-seq
MIRT2200469	hsa-miR-4480	CLIP-seq
MIRT891962	hsa-miR-4492	CLIP-seq
MIRT891963	hsa-miR-4498	CLIP-seq
MIRT2200470	hsa-miR-4532	CLIP-seq
MIRT891965	hsa-miR-454	CLIP-seq
MIRT891966	hsa-miR-4653-3p	CLIP-seq
MIRT891967	hsa-miR-4707-3p	CLIP-seq
MIRT891969	hsa-miR-4716-5p	CLIP-seq
MIRT1964338	hsa-miR-4722-3p	CLIP-seq
MIRT891970	hsa-miR-4731-5p	CLIP-seq
MIRT891971	hsa-miR-4757-5p	CLIP-seq
MIRT1964339	hsa-miR-4765	CLIP-seq
MIRT2200471	hsa-miR-4772-3p	CLIP-seq
MIRT2200472	hsa-miR-500a	CLIP-seq
MIRT891973	hsa-miR-5095	CLIP-seq
MIRT891974	hsa-miR-512-3p	CLIP-seq
MIRT891975	hsa-miR-515-5p	CLIP-seq
MIRT891976	hsa-miR-519d	CLIP-seq
MIRT891977	hsa-miR-520a-3p	CLIP-seq
MIRT891978	hsa-miR-520b	CLIP-seq
MIRT891979	hsa-miR-520c-3p	CLIP-seq
MIRT891980	hsa-miR-520d-3p	CLIP-seq
MIRT891981	hsa-miR-520e	CLIP-seq
MIRT891982	hsa-miR-520g	CLIP-seq
MIRT891983	hsa-miR-520h	CLIP-seq
MIRT2200473	hsa-miR-532-3p	CLIP-seq
MIRT891985	hsa-miR-762	CLIP-seq
MIRT891986	hsa-miR-764	CLIP-seq
MIRT2200474	hsa-miR-892b	CLIP-seq
MIRT891987	hsa-miR-93	CLIP-seq
MIRT2386067	hsa-miR-1228	CLIP-seq
MIRT891960	hsa-miR-4438	CLIP-seq
MIRT2200468	hsa-miR-4444	CLIP-seq
MIRT2200470	hsa-miR-4532	CLIP-seq
MIRT1964339	hsa-miR-4765	CLIP-seq
MIRT891973	hsa-miR-5095	CLIP-seq
MIRT891929	hsa-miR-122	CLIP-seq
MIRT2386067	hsa-miR-1228	CLIP-seq
MIRT891931	hsa-miR-1273f	CLIP-seq
MIRT891933	hsa-miR-130a	CLIP-seq
MIRT891934	hsa-miR-130b	CLIP-seq
MIRT891936	hsa-miR-143	CLIP-seq
MIRT891941	hsa-miR-301a	CLIP-seq
MIRT891942	hsa-miR-301b	CLIP-seq
MIRT891948	hsa-miR-3135b	CLIP-seq
MIRT891949	hsa-miR-3652	CLIP-seq
MIRT891950	hsa-miR-3666	CLIP-seq
MIRT891957	hsa-miR-4295	CLIP-seq
MIRT891959	hsa-miR-4430	CLIP-seq
MIRT2200468	hsa-miR-4444	CLIP-seq
MIRT2200470	hsa-miR-4532	CLIP-seq
MIRT891964	hsa-miR-4534	CLIP-seq
MIRT891965	hsa-miR-454	CLIP-seq
MIRT891966	hsa-miR-4653-3p	CLIP-seq
MIRT891968	hsa-miR-4708-5p	CLIP-seq
MIRT1964339	hsa-miR-4765	CLIP-seq
MIRT891972	hsa-miR-4770	CLIP-seq
MIRT891927	hsa-miR-106a	CLIP-seq
MIRT891928	hsa-miR-106b	CLIP-seq
MIRT2503261	hsa-miR-1207-5p	CLIP-seq
MIRT891929	hsa-miR-122	CLIP-seq
MIRT2386067	hsa-miR-1228	CLIP-seq
MIRT891930	hsa-miR-125a-3p	CLIP-seq
MIRT891931	hsa-miR-1273f	CLIP-seq
MIRT2503262	hsa-miR-1276	CLIP-seq
MIRT891933	hsa-miR-130a	CLIP-seq
MIRT891934	hsa-miR-130b	CLIP-seq
MIRT891936	hsa-miR-143	CLIP-seq
MIRT891937	hsa-miR-150	CLIP-seq
MIRT891938	hsa-miR-17	CLIP-seq
MIRT2503263	hsa-miR-1909	CLIP-seq
MIRT2503264	hsa-miR-193a-5p	CLIP-seq
MIRT1964334	hsa-miR-1976	CLIP-seq
MIRT891939	hsa-miR-20a	CLIP-seq
MIRT891940	hsa-miR-20b	CLIP-seq
MIRT2503265	hsa-miR-2861	CLIP-seq
MIRT891941	hsa-miR-301a	CLIP-seq
MIRT891942	hsa-miR-301b	CLIP-seq
MIRT891943	hsa-miR-302a	CLIP-seq
MIRT891944	hsa-miR-302b	CLIP-seq
MIRT891945	hsa-miR-302c	CLIP-seq
MIRT891946	hsa-miR-302d	CLIP-seq
MIRT891947	hsa-miR-302e	CLIP-seq
MIRT891948	hsa-miR-3135b	CLIP-seq
MIRT1964335	hsa-miR-325	CLIP-seq
MIRT891949	hsa-miR-3652	CLIP-seq
MIRT891950	hsa-miR-3666	CLIP-seq
MIRT2200465	hsa-miR-3680	CLIP-seq
MIRT891953	hsa-miR-372	CLIP-seq
MIRT891954	hsa-miR-373	CLIP-seq
MIRT2503266	hsa-miR-3925-3p	CLIP-seq
MIRT891955	hsa-miR-3934	CLIP-seq
MIRT2200467	hsa-miR-411	CLIP-seq
MIRT1964336	hsa-miR-4279	CLIP-seq
MIRT891957	hsa-miR-4295	CLIP-seq
MIRT891959	hsa-miR-4430	CLIP-seq
MIRT891960	hsa-miR-4438	CLIP-seq
MIRT2200468	hsa-miR-4444	CLIP-seq
MIRT891961	hsa-miR-4454	CLIP-seq
MIRT2200470	hsa-miR-4532	CLIP-seq
MIRT891964	hsa-miR-4534	CLIP-seq
MIRT891965	hsa-miR-454	CLIP-seq
MIRT891966	hsa-miR-4653-3p	CLIP-seq
MIRT891967	hsa-miR-4707-3p	CLIP-seq
MIRT891968	hsa-miR-4708-5p	CLIP-seq
MIRT1964338	hsa-miR-4722-3p	CLIP-seq
MIRT891970	hsa-miR-4731-5p	CLIP-seq
MIRT2503267	hsa-miR-4733-5p	CLIP-seq
MIRT2503268	hsa-miR-4736	CLIP-seq
MIRT891971	hsa-miR-4757-5p	CLIP-seq
MIRT2503269	hsa-miR-4763-3p	CLIP-seq
MIRT1964339	hsa-miR-4765	CLIP-seq
MIRT891972	hsa-miR-4770	CLIP-seq
MIRT2503270	hsa-miR-4778-3p	CLIP-seq
MIRT891973	hsa-miR-5095	CLIP-seq
MIRT891974	hsa-miR-512-3p	CLIP-seq
MIRT891976	hsa-miR-519d	CLIP-seq
MIRT891977	hsa-miR-520a-3p	CLIP-seq
MIRT891978	hsa-miR-520b	CLIP-seq
MIRT891979	hsa-miR-520c-3p	CLIP-seq
MIRT891980	hsa-miR-520d-3p	CLIP-seq
MIRT891981	hsa-miR-520e	CLIP-seq
MIRT891982	hsa-miR-520g	CLIP-seq
MIRT891983	hsa-miR-520h	CLIP-seq
MIRT2503271	hsa-miR-661	CLIP-seq
MIRT891986	hsa-miR-764	CLIP-seq
MIRT891987	hsa-miR-93	CLIP-seq
MIRT891927	hsa-miR-106a	CLIP-seq
MIRT891928	hsa-miR-106b	CLIP-seq
MIRT891929	hsa-miR-122	CLIP-seq
MIRT2386067	hsa-miR-1228	CLIP-seq
MIRT891930	hsa-miR-125a-3p	CLIP-seq
MIRT891931	hsa-miR-1273f	CLIP-seq
MIRT2503262	hsa-miR-1276	CLIP-seq
MIRT891933	hsa-miR-130a	CLIP-seq
MIRT891934	hsa-miR-130b	CLIP-seq
MIRT891936	hsa-miR-143	CLIP-seq
MIRT891937	hsa-miR-150	CLIP-seq
MIRT891938	hsa-miR-17	CLIP-seq
MIRT1964334	hsa-miR-1976	CLIP-seq
MIRT891939	hsa-miR-20a	CLIP-seq
MIRT891940	hsa-miR-20b	CLIP-seq
MIRT891941	hsa-miR-301a	CLIP-seq
MIRT891942	hsa-miR-301b	CLIP-seq
MIRT891943	hsa-miR-302a	CLIP-seq
MIRT891944	hsa-miR-302b	CLIP-seq
MIRT891945	hsa-miR-302c	CLIP-seq
MIRT891946	hsa-miR-302d	CLIP-seq
MIRT891947	hsa-miR-302e	CLIP-seq
MIRT891948	hsa-miR-3135b	CLIP-seq
MIRT1964335	hsa-miR-325	CLIP-seq
MIRT891949	hsa-miR-3652	CLIP-seq
MIRT891950	hsa-miR-3666	CLIP-seq
MIRT891953	hsa-miR-372	CLIP-seq
MIRT891954	hsa-miR-373	CLIP-seq
MIRT891955	hsa-miR-3934	CLIP-seq
MIRT2200467	hsa-miR-411	CLIP-seq
MIRT1964336	hsa-miR-4279	CLIP-seq
MIRT891957	hsa-miR-4295	CLIP-seq
MIRT891959	hsa-miR-4430	CLIP-seq
MIRT891960	hsa-miR-4438	CLIP-seq
MIRT2200468	hsa-miR-4444	CLIP-seq
MIRT891961	hsa-miR-4454	CLIP-seq
MIRT2200470	hsa-miR-4532	CLIP-seq
MIRT891964	hsa-miR-4534	CLIP-seq
MIRT891965	hsa-miR-454	CLIP-seq
MIRT891966	hsa-miR-4653-3p	CLIP-seq
MIRT891967	hsa-miR-4707-3p	CLIP-seq
MIRT891968	hsa-miR-4708-5p	CLIP-seq
MIRT1964338	hsa-miR-4722-3p	CLIP-seq
MIRT891970	hsa-miR-4731-5p	CLIP-seq
MIRT2503267	hsa-miR-4733-5p	CLIP-seq
MIRT891971	hsa-miR-4757-5p	CLIP-seq
MIRT1964339	hsa-miR-4765	CLIP-seq
MIRT891972	hsa-miR-4770	CLIP-seq
MIRT2503270	hsa-miR-4778-3p	CLIP-seq
MIRT891973	hsa-miR-5095	CLIP-seq
MIRT891974	hsa-miR-512-3p	CLIP-seq
MIRT891976	hsa-miR-519d	CLIP-seq
MIRT891977	hsa-miR-520a-3p	CLIP-seq
MIRT891978	hsa-miR-520b	CLIP-seq
MIRT891979	hsa-miR-520c-3p	CLIP-seq
MIRT891980	hsa-miR-520d-3p	CLIP-seq
MIRT891981	hsa-miR-520e	CLIP-seq
MIRT891982	hsa-miR-520g	CLIP-seq
MIRT891983	hsa-miR-520h	CLIP-seq
MIRT891986	hsa-miR-764	CLIP-seq
MIRT891987	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001941	Process	Postsynaptic membrane organization	IMP	8651643
GO:0003009	Process	Skeletal muscle contraction	IBA
GO:0003009	Process	Skeletal muscle contraction	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	8872460
GO:0005892	Component	Acetylcholine-gated channel complex	IBA
GO:0005892	Component	Acetylcholine-gated channel complex	IEA
GO:0005892	Component	Acetylcholine-gated channel complex	IMP	8872460
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006812	Process	Monoatomic cation transport	IMP	8872460
GO:0006936	Process	Muscle contraction	IMP	8651643
GO:0007165	Process	Signal transduction	IMP	8872460
GO:0007271	Process	Synaptic transmission, cholinergic	IBA
GO:0007271	Process	Synaptic transmission, cholinergic	IMP	8872460
GO:0007274	Process	Neuromuscular synaptic transmission	IMP	8651643
GO:0015267	Function	Channel activity	IMP	8872460
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	ISS
GO:0015464	Function	Acetylcholine receptor activity	IMP	8651643, 8872460
GO:0016020	Component	Membrane	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IBA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	ISS
GO:0031594	Component	Neuromuscular junction	IDA	7531341
GO:0031594	Component	Neuromuscular junction	IEA
GO:0031594	Component	Neuromuscular junction	IMP	7531341
GO:0034220	Process	Monoatomic ion transmembrane transport	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035095	Process	Behavioral response to nicotine	IMP	16874522
GO:0042166	Function	Acetylcholine binding	IEA
GO:0042166	Function	Acetylcholine binding	ISS
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042391	Process	Regulation of membrane potential	ISS
GO:0043005	Component	Neuron projection	IBA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	IMP	8872460
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050877	Process	Nervous system process	IMP	11104662
GO:0051899	Process	Membrane depolarization	IBA
GO:0055001	Process	Muscle cell development	IMP	8651643
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0095500	Process	Acetylcholine receptor signaling pathway	IBA
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IDA	7531341
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IMP	7531341

Other IDs

• MIM: 100710
• HGNC: 1961
• e!Ensembl: ENSG00000170175

Protein

• UniProt ID: P11230
• Protein name: Acetylcholine receptor subunit beta
• Protein function: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02931	Neur_chan_LBD	27 → 245	Neurotransmitter-gated ion-channel ligand binding domain	Family
  PF02932	Neur_chan_memb	252 → 487	Neurotransmitter-gated ion-channel transmembrane region	Family

• Sequence:

  MTPGALLMLLGALGAPLAPGVRGSEAEGRLREKLFSGYDSSVRPAREVGDRVRVSVGLIL
  AQLISLNEKDEEMSTKVYLDLEWTDYRLSWDPAEHDGIDSLRITAESVWLPDVVLLNNND
  GNFDVALDISVVVSSDGSVRWQPPGIYRSSCSIQVTYFPFDWQNCTMVFSSYSYDSSEVS
  LQTGLGPDGQGHQEIHIHEGTFIENGQWEIIHKPSRLIQPPGDPRGGREGQRQEVIFYLI
  IRRKPLFYLVNVIAPCILITLLAIFVFYLPPDAGEKMGLSIFALLTLTVFLLLLADKVPE
  TSLSVPIIIKYLMFTMVLVTFSVILSVVVLNLHHRSPHTHQMPLWVRQIFIHKLPLYLRL
  KRPKPERDLMPEPPHCSSPGSGWGRGTDEYFIRKPPSDFLFPKPNRFQPELSAPDLRRFI
  DGPNRAVALLPELREVVSSISYIARQLQEQEDHDALKEDWQFVAMVVDRLFLWTFIIFTS
  VGTLVIFLDATYHLPPPDPFP

• Sequence length: 501

Pathways

KEGG:

Neuroactive ligand-receptor interaction

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Congenital myasthenic syndrome 2A	Pathogenic; Likely pathogenic	rs2150839428, rs780391043, rs2150842362, rs1908992563, rs2507858296, rs2507872027, rs2507872174, rs776540918, rs2507858850, rs2507872015, rs137852810, rs137852811, rs2069945390, rs199875082, rs781689096, rs1447564693, rs1597749210, rs1908994498, rs1908762801	RCV001380636 RCV001380974 RCV002046820 RCV002001892 RCV003053335 RCV002857686 RCV003030264 RCV003444407 RCV003589697 RCV003991144 RCV000020040 RCV000020041 RCV003588563 RCV000559793 RCV001089209 RCV002535635 RCV000818684 RCV001066761 RCV001195894	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myasthenic syndrome 2C	Pathogenic	rs137852810, rs2069945390	RCV004798739 RCV000020042	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRNB1-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myasthenic syndrome 4C	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Myasthenic Syndrome, Dominant/Recessive	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, POSTSYNAPTIC SLOW-CHANNEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, WITH FACIAL DYSMORPHISM, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTSYNAPTIC CONGEN MYASTHENIC SYNDROMES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	31775875	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	33060286	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Postsynaptic	Myasthenic Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Presynaptic	Myasthenic Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	35074870	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	9307231		★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	616314		★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL	Myasthenic Syndrome	CLINVAR_DG	20562457, 27375219, 27391121, 8872460		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL	Myasthenic Syndrome	UNIPROT_DG	27375219, 8651643, 8872460		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	616314		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY	Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency	GENOMICS_ENGLAND_DG	616314		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency	Myasthenic Syndrome, Congenital, With Facial Dysmorphism, Associated With Acetylcholine Receptor Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	20562457, 27375219, 32504635, 32895905	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital, Slow Channel	Myasthenic Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Postsynaptic congenital myasthenic syndromes	Myasthenic Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thymus Hyperplasia	Thymus Hyperplasia	BEFREE	9307231		★☆☆☆☆ Found in Text Mining only