CCDC47 (coiled-coil domain containing 47)

Gene

• Entrez ID: 57003
• Gene name: Coiled-coil domain containing 47
• Gene symbol: CCDC47
• Synonyms (NCBI Gene): GK001, MSTP041, THNS
• Chromosome: 17
• Chromosome location: 17q23.3

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs749027804	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs750123815	A>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1269750663	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1568246398	A>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024703	hsa-miR-215-5p	Microarray	19074876
MIRT026099	hsa-miR-196a-5p	Sequencing	20371350
MIRT026510	hsa-miR-192-5p	Microarray	19074876
MIRT051015	hsa-miR-17-5p	CLASH	23622248
MIRT050615	hsa-miR-20a-5p	CLASH	23622248
MIRT048890	hsa-miR-93-5p	CLASH	23622248
MIRT048350	hsa-miR-106a-5p	CLASH	23622248
MIRT046635	hsa-miR-222-3p	CLASH	23622248
MIRT044362	hsa-miR-106b-5p	CLASH	23622248
MIRT041791	hsa-miR-484	CLASH	23622248
MIRT041146	hsa-miR-500a-3p	CLASH	23622248
MIRT036426	hsa-miR-1226-3p	CLASH	23622248
MIRT571442	hsa-miR-660-5p	PAR-CLIP	20371350
MIRT571441	hsa-miR-619-3p	PAR-CLIP	20371350
MIRT571440	hsa-miR-7851-3p	PAR-CLIP	20371350
MIRT571439	hsa-miR-6729-3p	PAR-CLIP	20371350
MIRT571438	hsa-miR-4707-5p	PAR-CLIP	20371350
MIRT571437	hsa-miR-5587-3p	PAR-CLIP	20371350
MIRT571436	hsa-miR-5591-3p	PAR-CLIP	20371350
MIRT571435	hsa-miR-6763-3p	PAR-CLIP	20371350
MIRT532426	hsa-miR-1255b-2-3p	PAR-CLIP	22012620
MIRT571442	hsa-miR-660-5p	PAR-CLIP	20371350
MIRT571441	hsa-miR-619-3p	PAR-CLIP	20371350
MIRT571440	hsa-miR-7851-3p	PAR-CLIP	20371350
MIRT571439	hsa-miR-6729-3p	PAR-CLIP	20371350
MIRT571438	hsa-miR-4707-5p	PAR-CLIP	20371350
MIRT571437	hsa-miR-5587-3p	PAR-CLIP	20371350
MIRT571436	hsa-miR-5591-3p	PAR-CLIP	20371350
MIRT571435	hsa-miR-6763-3p	PAR-CLIP	20371350
MIRT532426	hsa-miR-1255b-2-3p	PAR-CLIP	22012620
MIRT868970	hsa-miR-103a	CLIP-seq
MIRT868971	hsa-miR-107	CLIP-seq
MIRT868972	hsa-miR-1184	CLIP-seq
MIRT868973	hsa-miR-1224-3p	CLIP-seq
MIRT868974	hsa-miR-1233	CLIP-seq
MIRT868975	hsa-miR-1252	CLIP-seq
MIRT868976	hsa-miR-125a-5p	CLIP-seq
MIRT868977	hsa-miR-125b	CLIP-seq
MIRT868978	hsa-miR-1260	CLIP-seq
MIRT868979	hsa-miR-1260b	CLIP-seq
MIRT868980	hsa-miR-1270	CLIP-seq
MIRT868981	hsa-miR-1280	CLIP-seq
MIRT868982	hsa-miR-129-3p	CLIP-seq
MIRT868983	hsa-miR-1303	CLIP-seq
MIRT868984	hsa-miR-1305	CLIP-seq
MIRT868985	hsa-miR-137	CLIP-seq
MIRT868986	hsa-miR-141	CLIP-seq
MIRT868987	hsa-miR-150	CLIP-seq
MIRT868988	hsa-miR-15a	CLIP-seq
MIRT868989	hsa-miR-15b	CLIP-seq
MIRT868990	hsa-miR-16	CLIP-seq
MIRT868991	hsa-miR-1912	CLIP-seq
MIRT868992	hsa-miR-195	CLIP-seq
MIRT868993	hsa-miR-196a	CLIP-seq
MIRT868994	hsa-miR-196b	CLIP-seq
MIRT868995	hsa-miR-19a	CLIP-seq
MIRT868996	hsa-miR-19b	CLIP-seq
MIRT868997	hsa-miR-200a	CLIP-seq
MIRT868998	hsa-miR-216b	CLIP-seq
MIRT868999	hsa-miR-22	CLIP-seq
MIRT869000	hsa-miR-223	CLIP-seq
MIRT869001	hsa-miR-2467-3p	CLIP-seq
MIRT869002	hsa-miR-27a	CLIP-seq
MIRT869003	hsa-miR-27b	CLIP-seq
MIRT869004	hsa-miR-2964a-5p	CLIP-seq
MIRT869005	hsa-miR-298	CLIP-seq
MIRT869006	hsa-miR-299-5p	CLIP-seq
MIRT869007	hsa-miR-300	CLIP-seq
MIRT869008	hsa-miR-3120-3p	CLIP-seq
MIRT869009	hsa-miR-3123	CLIP-seq
MIRT869010	hsa-miR-3130-5p	CLIP-seq
MIRT869011	hsa-miR-3148	CLIP-seq
MIRT869012	hsa-miR-3149	CLIP-seq
MIRT869013	hsa-miR-3152-5p	CLIP-seq
MIRT869014	hsa-miR-3180-5p	CLIP-seq
MIRT869015	hsa-miR-3190	CLIP-seq
MIRT869016	hsa-miR-3199	CLIP-seq
MIRT869017	hsa-miR-323-3p	CLIP-seq
MIRT869018	hsa-miR-337-3p	CLIP-seq
MIRT869019	hsa-miR-34b	CLIP-seq
MIRT869020	hsa-miR-3607-3p	CLIP-seq
MIRT869021	hsa-miR-361-5p	CLIP-seq
MIRT869022	hsa-miR-365	CLIP-seq
MIRT869023	hsa-miR-3651	CLIP-seq
MIRT869024	hsa-miR-3662	CLIP-seq
MIRT869025	hsa-miR-3668	CLIP-seq
MIRT869026	hsa-miR-3678-3p	CLIP-seq
MIRT869027	hsa-miR-3682-3p	CLIP-seq
MIRT869028	hsa-miR-3686	CLIP-seq
MIRT869029	hsa-miR-3714	CLIP-seq
MIRT869030	hsa-miR-371b-5p	CLIP-seq
MIRT869031	hsa-miR-374a	CLIP-seq
MIRT869032	hsa-miR-374b	CLIP-seq
MIRT869033	hsa-miR-381	CLIP-seq
MIRT869034	hsa-miR-3908	CLIP-seq
MIRT869035	hsa-miR-3922-5p	CLIP-seq
MIRT869036	hsa-miR-3925-5p	CLIP-seq
MIRT869037	hsa-miR-3927	CLIP-seq
MIRT869038	hsa-miR-3976	CLIP-seq
MIRT869039	hsa-miR-424	CLIP-seq
MIRT869040	hsa-miR-4264	CLIP-seq
MIRT869041	hsa-miR-4268	CLIP-seq
MIRT869042	hsa-miR-4310	CLIP-seq
MIRT869043	hsa-miR-4314	CLIP-seq
MIRT869044	hsa-miR-4318	CLIP-seq
MIRT869045	hsa-miR-4319	CLIP-seq
MIRT869046	hsa-miR-432	CLIP-seq
MIRT869047	hsa-miR-4328	CLIP-seq
MIRT869048	hsa-miR-4419a	CLIP-seq
MIRT869049	hsa-miR-4421	CLIP-seq
MIRT869050	hsa-miR-4434	CLIP-seq
MIRT869051	hsa-miR-4448	CLIP-seq
MIRT869052	hsa-miR-4464	CLIP-seq
MIRT869053	hsa-miR-4482	CLIP-seq
MIRT869054	hsa-miR-4496	CLIP-seq
MIRT869055	hsa-miR-4502	CLIP-seq
MIRT869056	hsa-miR-4510	CLIP-seq
MIRT869057	hsa-miR-4516	CLIP-seq
MIRT869058	hsa-miR-4528	CLIP-seq
MIRT869059	hsa-miR-4531	CLIP-seq
MIRT869060	hsa-miR-4539	CLIP-seq
MIRT869061	hsa-miR-4635	CLIP-seq
MIRT869062	hsa-miR-4652-3p	CLIP-seq
MIRT869063	hsa-miR-4659a-5p	CLIP-seq
MIRT869064	hsa-miR-4659b-5p	CLIP-seq
MIRT869065	hsa-miR-4666-5p	CLIP-seq
MIRT869066	hsa-miR-4697-3p	CLIP-seq
MIRT869067	hsa-miR-4713-5p	CLIP-seq
MIRT869068	hsa-miR-4716-5p	CLIP-seq
MIRT869069	hsa-miR-4717-5p	CLIP-seq
MIRT869070	hsa-miR-4720-3p	CLIP-seq
MIRT869071	hsa-miR-4732-3p	CLIP-seq
MIRT869072	hsa-miR-4742-3p	CLIP-seq
MIRT869073	hsa-miR-4748	CLIP-seq
MIRT869074	hsa-miR-4753-5p	CLIP-seq
MIRT869075	hsa-miR-4756-3p	CLIP-seq
MIRT869076	hsa-miR-4769-3p	CLIP-seq
MIRT869077	hsa-miR-4773	CLIP-seq
MIRT869078	hsa-miR-4775	CLIP-seq
MIRT869079	hsa-miR-4797-3p	CLIP-seq
MIRT869080	hsa-miR-4804-3p	CLIP-seq
MIRT869081	hsa-miR-494	CLIP-seq
MIRT869082	hsa-miR-497	CLIP-seq
MIRT869083	hsa-miR-499a-5p	CLIP-seq
MIRT869084	hsa-miR-5096	CLIP-seq
MIRT869085	hsa-miR-513a-3p	CLIP-seq
MIRT869086	hsa-miR-513a-5p	CLIP-seq
MIRT869087	hsa-miR-520d-5p	CLIP-seq
MIRT869088	hsa-miR-524-5p	CLIP-seq
MIRT869089	hsa-miR-526b	CLIP-seq
MIRT869090	hsa-miR-532-3p	CLIP-seq
MIRT869091	hsa-miR-548aa	CLIP-seq
MIRT869092	hsa-miR-548ac	CLIP-seq
MIRT869093	hsa-miR-548an	CLIP-seq
MIRT869094	hsa-miR-548d-3p	CLIP-seq
MIRT869095	hsa-miR-548m	CLIP-seq
MIRT869096	hsa-miR-548z	CLIP-seq
MIRT869097	hsa-miR-550b	CLIP-seq
MIRT869098	hsa-miR-561	CLIP-seq
MIRT869099	hsa-miR-570	CLIP-seq
MIRT869100	hsa-miR-576-3p	CLIP-seq
MIRT869101	hsa-miR-577	CLIP-seq
MIRT869102	hsa-miR-587	CLIP-seq
MIRT869103	hsa-miR-590-3p	CLIP-seq
MIRT869104	hsa-miR-617	CLIP-seq
MIRT869105	hsa-miR-619	CLIP-seq
MIRT869106	hsa-miR-620	CLIP-seq
MIRT869107	hsa-miR-622	CLIP-seq
MIRT869108	hsa-miR-633	CLIP-seq
MIRT869109	hsa-miR-651	CLIP-seq
MIRT869110	hsa-miR-660	CLIP-seq
MIRT869111	hsa-miR-670	CLIP-seq
MIRT869112	hsa-miR-888	CLIP-seq
MIRT869113	hsa-miR-890	CLIP-seq
MIRT869114	hsa-miR-891b	CLIP-seq
MIRT869115	hsa-miR-935	CLIP-seq
MIRT869087	hsa-miR-520d-5p	CLIP-seq
MIRT869088	hsa-miR-524-5p	CLIP-seq
MIRT868973	hsa-miR-1224-3p	CLIP-seq
MIRT868978	hsa-miR-1260	CLIP-seq
MIRT868979	hsa-miR-1260b	CLIP-seq
MIRT1957865	hsa-miR-1269	CLIP-seq
MIRT1957866	hsa-miR-1269b	CLIP-seq
MIRT868980	hsa-miR-1270	CLIP-seq
MIRT868981	hsa-miR-1280	CLIP-seq
MIRT1957867	hsa-miR-1288	CLIP-seq
MIRT868983	hsa-miR-1303	CLIP-seq
MIRT868984	hsa-miR-1305	CLIP-seq
MIRT868987	hsa-miR-150	CLIP-seq
MIRT868993	hsa-miR-196a	CLIP-seq
MIRT868994	hsa-miR-196b	CLIP-seq
MIRT868995	hsa-miR-19a	CLIP-seq
MIRT868996	hsa-miR-19b	CLIP-seq
MIRT869004	hsa-miR-2964a-5p	CLIP-seq
MIRT869006	hsa-miR-299-5p	CLIP-seq
MIRT869011	hsa-miR-3148	CLIP-seq
MIRT1957868	hsa-miR-3187-3p	CLIP-seq
MIRT869018	hsa-miR-337-3p	CLIP-seq
MIRT869019	hsa-miR-34b	CLIP-seq
MIRT869021	hsa-miR-361-5p	CLIP-seq
MIRT869022	hsa-miR-365	CLIP-seq
MIRT869023	hsa-miR-3651	CLIP-seq
MIRT1957869	hsa-miR-3677-3p	CLIP-seq
MIRT869028	hsa-miR-3686	CLIP-seq
MIRT869034	hsa-miR-3908	CLIP-seq
MIRT869037	hsa-miR-3927	CLIP-seq
MIRT869040	hsa-miR-4264	CLIP-seq
MIRT869042	hsa-miR-4310	CLIP-seq
MIRT869046	hsa-miR-432	CLIP-seq
MIRT869047	hsa-miR-4328	CLIP-seq
MIRT869050	hsa-miR-4434	CLIP-seq
MIRT1957870	hsa-miR-4515	CLIP-seq
MIRT869057	hsa-miR-4516	CLIP-seq
MIRT1957871	hsa-miR-4529-5p	CLIP-seq
MIRT869059	hsa-miR-4531	CLIP-seq
MIRT869062	hsa-miR-4652-3p	CLIP-seq
MIRT1957872	hsa-miR-4672	CLIP-seq
MIRT1957873	hsa-miR-4694-3p	CLIP-seq
MIRT1957874	hsa-miR-4705	CLIP-seq
MIRT869067	hsa-miR-4713-5p	CLIP-seq
MIRT869070	hsa-miR-4720-3p	CLIP-seq
MIRT1957875	hsa-miR-4740-5p	CLIP-seq
MIRT869072	hsa-miR-4742-3p	CLIP-seq
MIRT869078	hsa-miR-4775	CLIP-seq
MIRT869079	hsa-miR-4797-3p	CLIP-seq
MIRT869080	hsa-miR-4804-3p	CLIP-seq
MIRT869083	hsa-miR-499a-5p	CLIP-seq
MIRT869085	hsa-miR-513a-3p	CLIP-seq
MIRT869087	hsa-miR-520d-5p	CLIP-seq
MIRT869088	hsa-miR-524-5p	CLIP-seq
MIRT869090	hsa-miR-532-3p	CLIP-seq
MIRT1957876	hsa-miR-539	CLIP-seq
MIRT869092	hsa-miR-548ac	CLIP-seq
MIRT1957877	hsa-miR-548ae	CLIP-seq
MIRT1957878	hsa-miR-548aj	CLIP-seq
MIRT1957879	hsa-miR-548am	CLIP-seq
MIRT869094	hsa-miR-548d-3p	CLIP-seq
MIRT1957880	hsa-miR-548x	CLIP-seq
MIRT869096	hsa-miR-548z	CLIP-seq
MIRT869100	hsa-miR-576-3p	CLIP-seq
MIRT1957881	hsa-miR-580	CLIP-seq
MIRT869103	hsa-miR-590-3p	CLIP-seq
MIRT869104	hsa-miR-617	CLIP-seq
MIRT869105	hsa-miR-619	CLIP-seq
MIRT869106	hsa-miR-620	CLIP-seq
MIRT869107	hsa-miR-622	CLIP-seq
MIRT869108	hsa-miR-633	CLIP-seq
MIRT1957882	hsa-miR-668	CLIP-seq
MIRT869113	hsa-miR-890	CLIP-seq
MIRT868973	hsa-miR-1224-3p	CLIP-seq
MIRT868976	hsa-miR-125a-5p	CLIP-seq
MIRT868977	hsa-miR-125b	CLIP-seq
MIRT868984	hsa-miR-1305	CLIP-seq
MIRT868991	hsa-miR-1912	CLIP-seq
MIRT869001	hsa-miR-2467-3p	CLIP-seq
MIRT2194890	hsa-miR-2861	CLIP-seq
MIRT869004	hsa-miR-2964a-5p	CLIP-seq
MIRT869006	hsa-miR-299-5p	CLIP-seq
MIRT869010	hsa-miR-3130-5p	CLIP-seq
MIRT869011	hsa-miR-3148	CLIP-seq
MIRT869015	hsa-miR-3190	CLIP-seq
MIRT869017	hsa-miR-323-3p	CLIP-seq
MIRT869019	hsa-miR-34b	CLIP-seq
MIRT869023	hsa-miR-3651	CLIP-seq
MIRT869028	hsa-miR-3686	CLIP-seq
MIRT869035	hsa-miR-3922-5p	CLIP-seq
MIRT2194891	hsa-miR-4279	CLIP-seq
MIRT869043	hsa-miR-4314	CLIP-seq
MIRT869044	hsa-miR-4318	CLIP-seq
MIRT869045	hsa-miR-4319	CLIP-seq
MIRT869048	hsa-miR-4419a	CLIP-seq
MIRT869050	hsa-miR-4434	CLIP-seq
MIRT869053	hsa-miR-4482	CLIP-seq
MIRT869056	hsa-miR-4510	CLIP-seq
MIRT869057	hsa-miR-4516	CLIP-seq
MIRT869058	hsa-miR-4528	CLIP-seq
MIRT2194892	hsa-miR-4691-5p	CLIP-seq
MIRT1957874	hsa-miR-4705	CLIP-seq
MIRT869069	hsa-miR-4717-5p	CLIP-seq
MIRT869071	hsa-miR-4732-3p	CLIP-seq
MIRT869074	hsa-miR-4753-5p	CLIP-seq
MIRT2194893	hsa-miR-4757-5p	CLIP-seq
MIRT869078	hsa-miR-4775	CLIP-seq
MIRT2194894	hsa-miR-4802-3p	CLIP-seq
MIRT869085	hsa-miR-513a-3p	CLIP-seq
MIRT869087	hsa-miR-520d-5p	CLIP-seq
MIRT869088	hsa-miR-524-5p	CLIP-seq
MIRT869090	hsa-miR-532-3p	CLIP-seq
MIRT869092	hsa-miR-548ac	CLIP-seq
MIRT1957877	hsa-miR-548ae	CLIP-seq
MIRT1957878	hsa-miR-548aj	CLIP-seq
MIRT1957879	hsa-miR-548am	CLIP-seq
MIRT869094	hsa-miR-548d-3p	CLIP-seq
MIRT1957880	hsa-miR-548x	CLIP-seq
MIRT869096	hsa-miR-548z	CLIP-seq
MIRT2194895	hsa-miR-571	CLIP-seq
MIRT869100	hsa-miR-576-3p	CLIP-seq
MIRT869101	hsa-miR-577	CLIP-seq
MIRT869103	hsa-miR-590-3p	CLIP-seq
MIRT869108	hsa-miR-633	CLIP-seq
MIRT2194896	hsa-miR-659	CLIP-seq
MIRT869111	hsa-miR-670	CLIP-seq
MIRT868973	hsa-miR-1224-3p	CLIP-seq
MIRT868978	hsa-miR-1260	CLIP-seq
MIRT868979	hsa-miR-1260b	CLIP-seq
MIRT868981	hsa-miR-1280	CLIP-seq
MIRT868987	hsa-miR-150	CLIP-seq
MIRT869042	hsa-miR-4310	CLIP-seq
MIRT869067	hsa-miR-4713-5p	CLIP-seq
MIRT869090	hsa-miR-532-3p	CLIP-seq
MIRT868973	hsa-miR-1224-3p	CLIP-seq
MIRT868978	hsa-miR-1260	CLIP-seq
MIRT868979	hsa-miR-1260b	CLIP-seq
MIRT868981	hsa-miR-1280	CLIP-seq
MIRT2498194	hsa-miR-136	CLIP-seq
MIRT868991	hsa-miR-1912	CLIP-seq
MIRT2498195	hsa-miR-192	CLIP-seq
MIRT2498196	hsa-miR-215	CLIP-seq
MIRT869001	hsa-miR-2467-3p	CLIP-seq
MIRT2498197	hsa-miR-302a	CLIP-seq
MIRT2498198	hsa-miR-302b	CLIP-seq
MIRT2498199	hsa-miR-302c	CLIP-seq
MIRT2498200	hsa-miR-302d	CLIP-seq
MIRT2498201	hsa-miR-302e	CLIP-seq
MIRT869009	hsa-miR-3123	CLIP-seq
MIRT869010	hsa-miR-3130-5p	CLIP-seq
MIRT2498202	hsa-miR-3133	CLIP-seq
MIRT869011	hsa-miR-3148	CLIP-seq
MIRT2498203	hsa-miR-3160-5p	CLIP-seq
MIRT2498204	hsa-miR-3163	CLIP-seq
MIRT1957868	hsa-miR-3187-3p	CLIP-seq
MIRT869015	hsa-miR-3190	CLIP-seq
MIRT2498205	hsa-miR-340	CLIP-seq
MIRT2498206	hsa-miR-3653	CLIP-seq
MIRT869024	hsa-miR-3662	CLIP-seq
MIRT1957869	hsa-miR-3677-3p	CLIP-seq
MIRT869026	hsa-miR-3678-3p	CLIP-seq
MIRT2498207	hsa-miR-372	CLIP-seq
MIRT2498208	hsa-miR-373	CLIP-seq
MIRT869034	hsa-miR-3908	CLIP-seq
MIRT869036	hsa-miR-3925-5p	CLIP-seq
MIRT2498209	hsa-miR-3941	CLIP-seq
MIRT869038	hsa-miR-3976	CLIP-seq
MIRT869044	hsa-miR-4318	CLIP-seq
MIRT869048	hsa-miR-4419a	CLIP-seq
MIRT869050	hsa-miR-4434	CLIP-seq
MIRT869053	hsa-miR-4482	CLIP-seq
MIRT869056	hsa-miR-4510	CLIP-seq
MIRT869057	hsa-miR-4516	CLIP-seq
MIRT1957871	hsa-miR-4529-5p	CLIP-seq
MIRT869060	hsa-miR-4539	CLIP-seq
MIRT2498210	hsa-miR-4643	CLIP-seq
MIRT2498211	hsa-miR-466	CLIP-seq
MIRT1957872	hsa-miR-4672	CLIP-seq
MIRT2498212	hsa-miR-4729	CLIP-seq
MIRT2498213	hsa-miR-4733-3p	CLIP-seq
MIRT869075	hsa-miR-4756-3p	CLIP-seq
MIRT869077	hsa-miR-4773	CLIP-seq
MIRT2498214	hsa-miR-4789-3p	CLIP-seq
MIRT2498215	hsa-miR-488	CLIP-seq
MIRT2498216	hsa-miR-515-5p	CLIP-seq
MIRT2498217	hsa-miR-519a	CLIP-seq
MIRT2498218	hsa-miR-519b-3p	CLIP-seq
MIRT2498219	hsa-miR-519c-3p	CLIP-seq
MIRT2498220	hsa-miR-520a-3p	CLIP-seq
MIRT2498221	hsa-miR-520b	CLIP-seq
MIRT2498222	hsa-miR-520c-3p	CLIP-seq
MIRT2498223	hsa-miR-520d-3p	CLIP-seq
MIRT2498224	hsa-miR-520e	CLIP-seq
MIRT2498225	hsa-miR-548c-3p	CLIP-seq
MIRT869101	hsa-miR-577	CLIP-seq
MIRT2498226	hsa-miR-578	CLIP-seq
MIRT869105	hsa-miR-619	CLIP-seq
MIRT869110	hsa-miR-660	CLIP-seq
MIRT2498227	hsa-miR-664	CLIP-seq
MIRT1957882	hsa-miR-668	CLIP-seq
MIRT868973	hsa-miR-1224-3p	CLIP-seq
MIRT868974	hsa-miR-1233	CLIP-seq
MIRT868978	hsa-miR-1260	CLIP-seq
MIRT868979	hsa-miR-1260b	CLIP-seq
MIRT868981	hsa-miR-1280	CLIP-seq
MIRT868982	hsa-miR-129-3p	CLIP-seq
MIRT868991	hsa-miR-1912	CLIP-seq
MIRT2498195	hsa-miR-192	CLIP-seq
MIRT2498196	hsa-miR-215	CLIP-seq
MIRT868998	hsa-miR-216b	CLIP-seq
MIRT869001	hsa-miR-2467-3p	CLIP-seq
MIRT869009	hsa-miR-3123	CLIP-seq
MIRT869010	hsa-miR-3130-5p	CLIP-seq
MIRT2498202	hsa-miR-3133	CLIP-seq
MIRT869011	hsa-miR-3148	CLIP-seq
MIRT2498203	hsa-miR-3160-5p	CLIP-seq
MIRT869014	hsa-miR-3180-5p	CLIP-seq
MIRT1957868	hsa-miR-3187-3p	CLIP-seq
MIRT869015	hsa-miR-3190	CLIP-seq
MIRT869020	hsa-miR-3607-3p	CLIP-seq
MIRT2498206	hsa-miR-3653	CLIP-seq
MIRT869024	hsa-miR-3662	CLIP-seq
MIRT1957869	hsa-miR-3677-3p	CLIP-seq
MIRT869028	hsa-miR-3686	CLIP-seq
MIRT2677496	hsa-miR-380	CLIP-seq
MIRT869034	hsa-miR-3908	CLIP-seq
MIRT869035	hsa-miR-3922-5p	CLIP-seq
MIRT869036	hsa-miR-3925-5p	CLIP-seq
MIRT2498209	hsa-miR-3941	CLIP-seq
MIRT869038	hsa-miR-3976	CLIP-seq
MIRT2677497	hsa-miR-4263	CLIP-seq
MIRT869044	hsa-miR-4318	CLIP-seq
MIRT869048	hsa-miR-4419a	CLIP-seq
MIRT2677498	hsa-miR-4432	CLIP-seq
MIRT869050	hsa-miR-4434	CLIP-seq
MIRT869052	hsa-miR-4464	CLIP-seq
MIRT869053	hsa-miR-4482	CLIP-seq
MIRT869056	hsa-miR-4510	CLIP-seq
MIRT869057	hsa-miR-4516	CLIP-seq
MIRT1957871	hsa-miR-4529-5p	CLIP-seq
MIRT2498210	hsa-miR-4643	CLIP-seq
MIRT2498211	hsa-miR-466	CLIP-seq
MIRT1957872	hsa-miR-4672	CLIP-seq
MIRT869069	hsa-miR-4717-5p	CLIP-seq
MIRT869073	hsa-miR-4748	CLIP-seq
MIRT869074	hsa-miR-4753-5p	CLIP-seq
MIRT869077	hsa-miR-4773	CLIP-seq
MIRT2498214	hsa-miR-4789-3p	CLIP-seq
MIRT2677499	hsa-miR-4797-5p	CLIP-seq
MIRT2677500	hsa-miR-4799-5p	CLIP-seq
MIRT2498215	hsa-miR-488	CLIP-seq
MIRT869081	hsa-miR-494	CLIP-seq
MIRT2677501	hsa-miR-499-5p	CLIP-seq
MIRT869091	hsa-miR-548aa	CLIP-seq
MIRT2498225	hsa-miR-548c-3p	CLIP-seq
MIRT869095	hsa-miR-548m	CLIP-seq
MIRT2677502	hsa-miR-576-5p	CLIP-seq
MIRT869101	hsa-miR-577	CLIP-seq
MIRT2498226	hsa-miR-578	CLIP-seq
MIRT869105	hsa-miR-619	CLIP-seq
MIRT869110	hsa-miR-660	CLIP-seq
MIRT2498227	hsa-miR-664	CLIP-seq
MIRT1957882	hsa-miR-668	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	21903422, 32814053, 32814900, 32820719, 35271311
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	32814900
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005791	Component	Rough endoplasmic reticulum	IEA
GO:0006457	Process	Protein folding	IEA
GO:0006983	Process	ER overload response	IEA
GO:0007029	Process	Endoplasmic reticulum organization	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0016020	Component	Membrane	HDA	16210410, 19946888
GO:0016020	Component	Membrane	IEA
GO:0030867	Component	Rough endoplasmic reticulum membrane	IEA
GO:0032469	Process	Endoplasmic reticulum calcium ion homeostasis	IEA
GO:0032469	Process	Endoplasmic reticulum calcium ion homeostasis	IMP	30401460
GO:0036503	Process	ERAD pathway	IEA
GO:0036503	Process	ERAD pathway	IMP	25009997
GO:0043022	Function	Ribosome binding	IDA	32820719
GO:0044183	Function	Protein folding chaperone	IDA	32814900
GO:0045048	Process	Protein insertion into ER membrane	IDA	32814900
GO:0055074	Process	Calcium ion homeostasis	IEA
GO:0101031	Component	Protein folding chaperone complex	IPI	32814900
GO:0160063	Process	Multi-pass transmembrane protein insertion into ER membrane	IDA	36261522
GO:0160064	Component	Multi-pass translocon complex	IDA	36261522
GO:0160064	Component	Multi-pass translocon complex	IPI	36261522

Other IDs

• MIM: 618260
• HGNC: 24856
• e!Ensembl: ENSG00000108588

Protein

• UniProt ID: Q96A33
• Protein name: PAT complex subunit CCDC47 (Calumin) (Coiled-coil domain-containing protein 47)
• Protein function: Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:32814900, PubMed:32820719, PubMed:36261522). The MPT complex takes over after the SEC61 comp
• PDB: 6W6L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07946	DUF1682	135 → 467	Protein of unknown function (DUF1682)	Family

• Sequence:

  MKAFHTFCVVLLVFGSVSEAKFDDFEDEEDIVEYDDNDFAEFEDVMEDSVTESPQRVIIT
  EDDEDETTVELEGQDENQEGDFEDADTQEGDTESEPYDDEEFEGYEDKPDTSSSKNKDPI
  TIVDVPAHLQNSWESYYLEILMVTGLLAYIMNYIIGKNKNSRLAQAWFNTHRELLESNFT
  LVGDDGTNKEATSTGKLNQENEHIYNLWCSGRVCCEGMLIQLRFLKRQDLLNVLARMMRP
  VSDQVQIKVTMNDEDMDTYVFAVGTRKALVRLQKEMQDLSEFCSDKPKSGAKYGLPDSLA
  ILSEMGEVTDGMMDTKMVHFLTHYADKIESVHFSDQFSGPKIMQEEGQPLKLPDTKRTLL
  FTFNVPGSGNTYPKDMEALLPLMNMVIYSIDKAKKFRLNREGKQKADKNRARVEENFLKL
  THVQRQEAAQSRREEKKRAEKERIMNEEDPEKQRRLEEAALRREQKKLEKKQMKMKQIKV
  KAM

• Sequence length: 483

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
Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair	Likely pathogenic; Pathogenic	rs1269750663, rs1568246398, rs750123815, rs749027804	RCV000754581 RCV000754582 RCV000754584 RCV000754583	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Trichohepatoneurodevelopmental syndrome	Likely pathogenic; Pathogenic	rs763844532, rs1319907329, rs1269750663, rs1568246398, rs750123815, rs749027804, rs765103846	RCV002052260 RCV002267566 RCV000735842 RCV000735841 RCV000735839 RCV000735840 RCV001283854	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CCDC47-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis syndrome	Distal arthrogryposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	30401460		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	30140426		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	30140426		★☆☆☆☆ Found in Text Mining only
Hypoplasia of nipple	Hypoplasia Of Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30401460		★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papilloma Choroid Plexus	Choroid plexus papilloma	Pubtator	33249490	Associate	★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
TRICHOHEPATONEURODEVELOPMENTAL SYNDROME	TRICHOHEPATONEURODEVELOPMENTAL SYNDROME	GENOMICS_ENGLAND_DG	30401460		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TRICHOHEPATONEURODEVELOPMENTAL SYNDROME	TRICHOHEPATONEURODEVELOPMENTAL SYNDROME	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)