CCDC50 (coiled-coil domain containing 50)

Gene

• Entrez ID: 152137
• Gene name: Coiled-coil domain containing 50
• Gene symbol: CCDC50
• Synonyms (NCBI Gene): C3orf6, DFNA44, YMER
• Chromosome: 3
• Chromosome location: 3q28
• Summary: This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expresse

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138153104	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs143628723	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT499020	hsa-miR-4802-3p	PAR-CLIP	24398324
MIRT499019	hsa-miR-942-3p	PAR-CLIP	24398324
MIRT499018	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT499016	hsa-miR-6856-5p	PAR-CLIP	24398324
MIRT499017	hsa-miR-6873-5p	PAR-CLIP	24398324
MIRT499015	hsa-miR-6760-5p	PAR-CLIP	24398324
MIRT499014	hsa-miR-4524a-3p	PAR-CLIP	24398324
MIRT499013	hsa-miR-4419a	PAR-CLIP	24398324
MIRT499012	hsa-miR-4510	PAR-CLIP	24398324
MIRT499011	hsa-miR-6127	PAR-CLIP	24398324
MIRT499009	hsa-miR-6129	PAR-CLIP	24398324
MIRT499010	hsa-miR-6130	PAR-CLIP	24398324
MIRT499008	hsa-miR-6133	PAR-CLIP	24398324
MIRT499007	hsa-miR-6878-5p	PAR-CLIP	24398324
MIRT499006	hsa-miR-3175	PAR-CLIP	24398324
MIRT499005	hsa-miR-4723-5p	PAR-CLIP	24398324
MIRT499003	hsa-miR-5698	PAR-CLIP	24398324
MIRT499004	hsa-miR-6870-5p	PAR-CLIP	24398324
MIRT499002	hsa-miR-7111-5p	PAR-CLIP	24398324
MIRT499001	hsa-miR-6795-5p	PAR-CLIP	24398324
MIRT499000	hsa-miR-6887-5p	PAR-CLIP	24398324
MIRT498999	hsa-miR-328-5p	PAR-CLIP	24398324
MIRT498998	hsa-miR-6885-5p	PAR-CLIP	24398324
MIRT498996	hsa-miR-7109-5p	PAR-CLIP	24398324
MIRT499020	hsa-miR-4802-3p	PAR-CLIP	24398324
MIRT499019	hsa-miR-942-3p	PAR-CLIP	24398324
MIRT499018	hsa-miR-6758-5p	PAR-CLIP	24398324
MIRT499016	hsa-miR-6856-5p	PAR-CLIP	24398324
MIRT499017	hsa-miR-6873-5p	PAR-CLIP	24398324
MIRT499015	hsa-miR-6760-5p	PAR-CLIP	24398324
MIRT499014	hsa-miR-4524a-3p	PAR-CLIP	24398324
MIRT499013	hsa-miR-4419a	PAR-CLIP	24398324
MIRT499012	hsa-miR-4510	PAR-CLIP	24398324
MIRT499011	hsa-miR-6127	PAR-CLIP	24398324
MIRT499009	hsa-miR-6129	PAR-CLIP	24398324
MIRT499010	hsa-miR-6130	PAR-CLIP	24398324
MIRT499008	hsa-miR-6133	PAR-CLIP	24398324
MIRT499007	hsa-miR-6878-5p	PAR-CLIP	24398324
MIRT499006	hsa-miR-3175	PAR-CLIP	24398324
MIRT499005	hsa-miR-4723-5p	PAR-CLIP	24398324
MIRT499003	hsa-miR-5698	PAR-CLIP	24398324
MIRT499004	hsa-miR-6870-5p	PAR-CLIP	24398324
MIRT499002	hsa-miR-7111-5p	PAR-CLIP	24398324
MIRT499001	hsa-miR-6795-5p	PAR-CLIP	24398324
MIRT499000	hsa-miR-6887-5p	PAR-CLIP	24398324
MIRT498999	hsa-miR-328-5p	PAR-CLIP	24398324
MIRT498998	hsa-miR-6885-5p	PAR-CLIP	24398324
MIRT498996	hsa-miR-7109-5p	PAR-CLIP	24398324
MIRT869143	hsa-miR-1207-5p	CLIP-seq
MIRT869144	hsa-miR-136	CLIP-seq
MIRT869145	hsa-miR-146a	CLIP-seq
MIRT869146	hsa-miR-146b-5p	CLIP-seq
MIRT869147	hsa-miR-15a	CLIP-seq
MIRT869148	hsa-miR-15b	CLIP-seq
MIRT869149	hsa-miR-16	CLIP-seq
MIRT869150	hsa-miR-1827	CLIP-seq
MIRT869151	hsa-miR-1909	CLIP-seq
MIRT869152	hsa-miR-195	CLIP-seq
MIRT869153	hsa-miR-214	CLIP-seq
MIRT869154	hsa-miR-217	CLIP-seq
MIRT869155	hsa-miR-25	CLIP-seq
MIRT869156	hsa-miR-2964a-3p	CLIP-seq
MIRT869157	hsa-miR-302f	CLIP-seq
MIRT869158	hsa-miR-3065-3p	CLIP-seq
MIRT869159	hsa-miR-3138	CLIP-seq
MIRT869160	hsa-miR-3163	CLIP-seq
MIRT869161	hsa-miR-3165	CLIP-seq
MIRT869162	hsa-miR-3177-5p	CLIP-seq
MIRT869163	hsa-miR-3179	CLIP-seq
MIRT869164	hsa-miR-3189-3p	CLIP-seq
MIRT869165	hsa-miR-32	CLIP-seq
MIRT869166	hsa-miR-323b-5p	CLIP-seq
MIRT869167	hsa-miR-324-5p	CLIP-seq
MIRT869168	hsa-miR-3614-5p	CLIP-seq
MIRT869169	hsa-miR-3619-5p	CLIP-seq
MIRT869170	hsa-miR-363	CLIP-seq
MIRT869171	hsa-miR-3665	CLIP-seq
MIRT869172	hsa-miR-367	CLIP-seq
MIRT869173	hsa-miR-3689a-3p	CLIP-seq
MIRT869174	hsa-miR-3689c	CLIP-seq
MIRT869175	hsa-miR-3714	CLIP-seq
MIRT869176	hsa-miR-3919	CLIP-seq
MIRT869177	hsa-miR-3925-5p	CLIP-seq
MIRT869178	hsa-miR-3926	CLIP-seq
MIRT869179	hsa-miR-3929	CLIP-seq
MIRT869180	hsa-miR-3973	CLIP-seq
MIRT869181	hsa-miR-424	CLIP-seq
MIRT869182	hsa-miR-4252	CLIP-seq
MIRT869183	hsa-miR-4257	CLIP-seq
MIRT869184	hsa-miR-4419b	CLIP-seq
MIRT869185	hsa-miR-4468	CLIP-seq
MIRT869186	hsa-miR-4478	CLIP-seq
MIRT869187	hsa-miR-4504	CLIP-seq
MIRT869188	hsa-miR-451b	CLIP-seq
MIRT869189	hsa-miR-4520a-3p	CLIP-seq
MIRT869190	hsa-miR-4520a-5p	CLIP-seq
MIRT869191	hsa-miR-4520b-5p	CLIP-seq
MIRT869192	hsa-miR-4524	CLIP-seq
MIRT869193	hsa-miR-4649-3p	CLIP-seq
MIRT869194	hsa-miR-4649-5p	CLIP-seq
MIRT869195	hsa-miR-4684-5p	CLIP-seq
MIRT869196	hsa-miR-4728-5p	CLIP-seq
MIRT869197	hsa-miR-4736	CLIP-seq
MIRT869198	hsa-miR-4756-3p	CLIP-seq
MIRT869199	hsa-miR-4763-3p	CLIP-seq
MIRT869200	hsa-miR-4768-5p	CLIP-seq
MIRT869201	hsa-miR-4778-5p	CLIP-seq
MIRT869202	hsa-miR-4786-5p	CLIP-seq
MIRT869203	hsa-miR-4793-3p	CLIP-seq
MIRT869204	hsa-miR-485-5p	CLIP-seq
MIRT869205	hsa-miR-497	CLIP-seq
MIRT869206	hsa-miR-503	CLIP-seq
MIRT869207	hsa-miR-508-5p	CLIP-seq
MIRT869208	hsa-miR-513a-3p	CLIP-seq
MIRT869209	hsa-miR-542-3p	CLIP-seq
MIRT869210	hsa-miR-548a-5p	CLIP-seq
MIRT869211	hsa-miR-548ab	CLIP-seq
MIRT869212	hsa-miR-548ak	CLIP-seq
MIRT869213	hsa-miR-548b-5p	CLIP-seq
MIRT869214	hsa-miR-548c-5p	CLIP-seq
MIRT869215	hsa-miR-548d-5p	CLIP-seq
MIRT869216	hsa-miR-548h	CLIP-seq
MIRT869217	hsa-miR-548i	CLIP-seq
MIRT869218	hsa-miR-548j	CLIP-seq
MIRT869219	hsa-miR-548s	CLIP-seq
MIRT869220	hsa-miR-548w	CLIP-seq
MIRT869221	hsa-miR-548y	CLIP-seq
MIRT869222	hsa-miR-559	CLIP-seq
MIRT869223	hsa-miR-584	CLIP-seq
MIRT869224	hsa-miR-646	CLIP-seq
MIRT869225	hsa-miR-761	CLIP-seq
MIRT869226	hsa-miR-766	CLIP-seq
MIRT869227	hsa-miR-767-5p	CLIP-seq
MIRT869228	hsa-miR-873	CLIP-seq
MIRT869229	hsa-miR-890	CLIP-seq
MIRT869230	hsa-miR-92a	CLIP-seq
MIRT869231	hsa-miR-92b	CLIP-seq
MIRT869232	hsa-miR-940	CLIP-seq
MIRT869143	hsa-miR-1207-5p	CLIP-seq
MIRT869233	hsa-miR-1237	CLIP-seq
MIRT869234	hsa-miR-124	CLIP-seq
MIRT869235	hsa-miR-1248	CLIP-seq
MIRT869236	hsa-miR-1303	CLIP-seq
MIRT869237	hsa-miR-1305	CLIP-seq
MIRT869238	hsa-miR-133a	CLIP-seq
MIRT869239	hsa-miR-133b	CLIP-seq
MIRT869150	hsa-miR-1827	CLIP-seq
MIRT869240	hsa-miR-188-5p	CLIP-seq
MIRT869151	hsa-miR-1909	CLIP-seq
MIRT869154	hsa-miR-217	CLIP-seq
MIRT869155	hsa-miR-25	CLIP-seq
MIRT869156	hsa-miR-2964a-3p	CLIP-seq
MIRT869157	hsa-miR-302f	CLIP-seq
MIRT869241	hsa-miR-3064-5p	CLIP-seq
MIRT869158	hsa-miR-3065-3p	CLIP-seq
MIRT869242	hsa-miR-3120-3p	CLIP-seq
MIRT869243	hsa-miR-3157-5p	CLIP-seq
MIRT869244	hsa-miR-3160-3p	CLIP-seq
MIRT869160	hsa-miR-3163	CLIP-seq
MIRT869164	hsa-miR-3189-3p	CLIP-seq
MIRT869165	hsa-miR-32	CLIP-seq
MIRT869245	hsa-miR-3200-3p	CLIP-seq
MIRT869246	hsa-miR-335	CLIP-seq
MIRT869168	hsa-miR-3614-5p	CLIP-seq
MIRT869170	hsa-miR-363	CLIP-seq
MIRT869247	hsa-miR-3651	CLIP-seq
MIRT869248	hsa-miR-3652	CLIP-seq
MIRT869172	hsa-miR-367	CLIP-seq
MIRT869173	hsa-miR-3689a-3p	CLIP-seq
MIRT869174	hsa-miR-3689c	CLIP-seq
MIRT869175	hsa-miR-3714	CLIP-seq
MIRT869249	hsa-miR-384	CLIP-seq
MIRT869250	hsa-miR-3910	CLIP-seq
MIRT869251	hsa-miR-3922-5p	CLIP-seq
MIRT869179	hsa-miR-3929	CLIP-seq
MIRT869252	hsa-miR-3941	CLIP-seq
MIRT869253	hsa-miR-412	CLIP-seq
MIRT869254	hsa-miR-4267	CLIP-seq
MIRT869255	hsa-miR-4274	CLIP-seq
MIRT869256	hsa-miR-4293	CLIP-seq
MIRT869184	hsa-miR-4419b	CLIP-seq
MIRT869257	hsa-miR-4420	CLIP-seq
MIRT869258	hsa-miR-4427	CLIP-seq
MIRT869259	hsa-miR-4430	CLIP-seq
MIRT869260	hsa-miR-4452	CLIP-seq
MIRT869261	hsa-miR-4477b	CLIP-seq
MIRT869186	hsa-miR-4478	CLIP-seq
MIRT869262	hsa-miR-4502	CLIP-seq
MIRT869187	hsa-miR-4504	CLIP-seq
MIRT869263	hsa-miR-4505	CLIP-seq
MIRT869264	hsa-miR-4519	CLIP-seq
MIRT869188	hsa-miR-451b	CLIP-seq
MIRT869192	hsa-miR-4524	CLIP-seq
MIRT869265	hsa-miR-4638-3p	CLIP-seq
MIRT869193	hsa-miR-4649-3p	CLIP-seq
MIRT869266	hsa-miR-466	CLIP-seq
MIRT869267	hsa-miR-4672	CLIP-seq
MIRT869268	hsa-miR-4680-3p	CLIP-seq
MIRT869269	hsa-miR-4691-3p	CLIP-seq
MIRT869270	hsa-miR-4697-3p	CLIP-seq
MIRT869271	hsa-miR-4698	CLIP-seq
MIRT869272	hsa-miR-4720-3p	CLIP-seq
MIRT869273	hsa-miR-4724-3p	CLIP-seq
MIRT869196	hsa-miR-4728-5p	CLIP-seq
MIRT869274	hsa-miR-4731-3p	CLIP-seq
MIRT869275	hsa-miR-4761-3p	CLIP-seq
MIRT869276	hsa-miR-4762-3p	CLIP-seq
MIRT869199	hsa-miR-4763-3p	CLIP-seq
MIRT869277	hsa-miR-4780	CLIP-seq
MIRT869203	hsa-miR-4793-3p	CLIP-seq
MIRT869278	hsa-miR-4801	CLIP-seq
MIRT869204	hsa-miR-485-5p	CLIP-seq
MIRT869279	hsa-miR-498	CLIP-seq
MIRT869280	hsa-miR-499-3p	CLIP-seq
MIRT869281	hsa-miR-499a-3p	CLIP-seq
MIRT869282	hsa-miR-506	CLIP-seq
MIRT869207	hsa-miR-508-5p	CLIP-seq
MIRT869209	hsa-miR-542-3p	CLIP-seq
MIRT869283	hsa-miR-548aa	CLIP-seq
MIRT869284	hsa-miR-548g	CLIP-seq
MIRT869285	hsa-miR-596	CLIP-seq
MIRT869286	hsa-miR-623	CLIP-seq
MIRT869287	hsa-miR-647	CLIP-seq
MIRT869288	hsa-miR-653	CLIP-seq
MIRT869289	hsa-miR-665	CLIP-seq
MIRT869226	hsa-miR-766	CLIP-seq
MIRT869227	hsa-miR-767-5p	CLIP-seq
MIRT869229	hsa-miR-890	CLIP-seq
MIRT869230	hsa-miR-92a	CLIP-seq
MIRT869231	hsa-miR-92b	CLIP-seq
MIRT869232	hsa-miR-940	CLIP-seq
MIRT869290	hsa-miR-944	CLIP-seq
MIRT869158	hsa-miR-3065-3p	CLIP-seq
MIRT869143	hsa-miR-1207-5p	CLIP-seq
MIRT869147	hsa-miR-15a	CLIP-seq
MIRT869148	hsa-miR-15b	CLIP-seq
MIRT869149	hsa-miR-16	CLIP-seq
MIRT869150	hsa-miR-1827	CLIP-seq
MIRT869151	hsa-miR-1909	CLIP-seq
MIRT869152	hsa-miR-195	CLIP-seq
MIRT869153	hsa-miR-214	CLIP-seq
MIRT869156	hsa-miR-2964a-3p	CLIP-seq
MIRT869157	hsa-miR-302f	CLIP-seq
MIRT869158	hsa-miR-3065-3p	CLIP-seq
MIRT869161	hsa-miR-3165	CLIP-seq
MIRT1957886	hsa-miR-3174	CLIP-seq
MIRT869164	hsa-miR-3189-3p	CLIP-seq
MIRT1957887	hsa-miR-342-3p	CLIP-seq
MIRT869168	hsa-miR-3614-5p	CLIP-seq
MIRT869169	hsa-miR-3619-5p	CLIP-seq
MIRT869171	hsa-miR-3665	CLIP-seq
MIRT869173	hsa-miR-3689a-3p	CLIP-seq
MIRT869174	hsa-miR-3689c	CLIP-seq
MIRT869175	hsa-miR-3714	CLIP-seq
MIRT1957888	hsa-miR-377	CLIP-seq
MIRT1957889	hsa-miR-380	CLIP-seq
MIRT1957890	hsa-miR-3908	CLIP-seq
MIRT1957891	hsa-miR-3909	CLIP-seq
MIRT869179	hsa-miR-3929	CLIP-seq
MIRT1957892	hsa-miR-3942-5p	CLIP-seq
MIRT869181	hsa-miR-424	CLIP-seq
MIRT869254	hsa-miR-4267	CLIP-seq
MIRT869184	hsa-miR-4419b	CLIP-seq
MIRT1957893	hsa-miR-4422	CLIP-seq
MIRT869186	hsa-miR-4478	CLIP-seq
MIRT1957894	hsa-miR-4495	CLIP-seq
MIRT869192	hsa-miR-4524	CLIP-seq
MIRT1957895	hsa-miR-4643	CLIP-seq
MIRT869193	hsa-miR-4649-3p	CLIP-seq
MIRT1957896	hsa-miR-4666-5p	CLIP-seq
MIRT1957897	hsa-miR-4703-5p	CLIP-seq
MIRT1957898	hsa-miR-4714-5p	CLIP-seq
MIRT869272	hsa-miR-4720-3p	CLIP-seq
MIRT1957899	hsa-miR-4726-3p	CLIP-seq
MIRT1957900	hsa-miR-4728-3p	CLIP-seq
MIRT869196	hsa-miR-4728-5p	CLIP-seq
MIRT869197	hsa-miR-4736	CLIP-seq
MIRT1957901	hsa-miR-4742-5p	CLIP-seq
MIRT869199	hsa-miR-4763-3p	CLIP-seq
MIRT1957902	hsa-miR-4766-3p	CLIP-seq
MIRT869204	hsa-miR-485-5p	CLIP-seq
MIRT869205	hsa-miR-497	CLIP-seq
MIRT869206	hsa-miR-503	CLIP-seq
MIRT1957903	hsa-miR-554	CLIP-seq
MIRT1957904	hsa-miR-642b	CLIP-seq
MIRT869224	hsa-miR-646	CLIP-seq
MIRT1957905	hsa-miR-664	CLIP-seq
MIRT869225	hsa-miR-761	CLIP-seq
MIRT869228	hsa-miR-873	CLIP-seq
MIRT869229	hsa-miR-890	CLIP-seq
MIRT869232	hsa-miR-940	CLIP-seq
MIRT2194898	hsa-miR-1297	CLIP-seq
MIRT2194899	hsa-miR-26a	CLIP-seq
MIRT2194900	hsa-miR-26b	CLIP-seq
MIRT869157	hsa-miR-302f	CLIP-seq
MIRT869175	hsa-miR-3714	CLIP-seq
MIRT869178	hsa-miR-3926	CLIP-seq
MIRT2194901	hsa-miR-4465	CLIP-seq
MIRT869271	hsa-miR-4698	CLIP-seq
MIRT869219	hsa-miR-548s	CLIP-seq
MIRT869228	hsa-miR-873	CLIP-seq
MIRT869143	hsa-miR-1207-5p	CLIP-seq
MIRT869150	hsa-miR-1827	CLIP-seq
MIRT869151	hsa-miR-1909	CLIP-seq
MIRT869156	hsa-miR-2964a-3p	CLIP-seq
MIRT869157	hsa-miR-302f	CLIP-seq
MIRT869161	hsa-miR-3165	CLIP-seq
MIRT869164	hsa-miR-3189-3p	CLIP-seq
MIRT869168	hsa-miR-3614-5p	CLIP-seq
MIRT869171	hsa-miR-3665	CLIP-seq
MIRT869173	hsa-miR-3689a-3p	CLIP-seq
MIRT869174	hsa-miR-3689c	CLIP-seq
MIRT869175	hsa-miR-3714	CLIP-seq
MIRT869178	hsa-miR-3926	CLIP-seq
MIRT869179	hsa-miR-3929	CLIP-seq
MIRT869254	hsa-miR-4267	CLIP-seq
MIRT869184	hsa-miR-4419b	CLIP-seq
MIRT1957893	hsa-miR-4422	CLIP-seq
MIRT869186	hsa-miR-4478	CLIP-seq
MIRT1957894	hsa-miR-4495	CLIP-seq
MIRT869187	hsa-miR-4504	CLIP-seq
MIRT869188	hsa-miR-451b	CLIP-seq
MIRT1957895	hsa-miR-4643	CLIP-seq
MIRT869193	hsa-miR-4649-3p	CLIP-seq
MIRT2194902	hsa-miR-4666-3p	CLIP-seq
MIRT1957896	hsa-miR-4666-5p	CLIP-seq
MIRT2194903	hsa-miR-4690-3p	CLIP-seq
MIRT1957899	hsa-miR-4726-3p	CLIP-seq
MIRT869196	hsa-miR-4728-5p	CLIP-seq
MIRT869197	hsa-miR-4736	CLIP-seq
MIRT869199	hsa-miR-4763-3p	CLIP-seq
MIRT869202	hsa-miR-4786-5p	CLIP-seq
MIRT869203	hsa-miR-4793-3p	CLIP-seq
MIRT869204	hsa-miR-485-5p	CLIP-seq
MIRT869280	hsa-miR-499-3p	CLIP-seq
MIRT869281	hsa-miR-499a-3p	CLIP-seq
MIRT869207	hsa-miR-508-5p	CLIP-seq
MIRT869209	hsa-miR-542-3p	CLIP-seq
MIRT869219	hsa-miR-548s	CLIP-seq
MIRT1957903	hsa-miR-554	CLIP-seq
MIRT1957904	hsa-miR-642b	CLIP-seq
MIRT869226	hsa-miR-766	CLIP-seq
MIRT2194904	hsa-miR-888	CLIP-seq
MIRT869229	hsa-miR-890	CLIP-seq
MIRT2194905	hsa-miR-935	CLIP-seq
MIRT869232	hsa-miR-940	CLIP-seq
MIRT869143	hsa-miR-1207-5p	CLIP-seq
MIRT869150	hsa-miR-1827	CLIP-seq
MIRT869151	hsa-miR-1909	CLIP-seq
MIRT2385647	hsa-miR-28-5p	CLIP-seq
MIRT869156	hsa-miR-2964a-3p	CLIP-seq
MIRT869157	hsa-miR-302f	CLIP-seq
MIRT869241	hsa-miR-3064-5p	CLIP-seq
MIRT2385648	hsa-miR-3139	CLIP-seq
MIRT869168	hsa-miR-3614-5p	CLIP-seq
MIRT869248	hsa-miR-3652	CLIP-seq
MIRT869173	hsa-miR-3689a-3p	CLIP-seq
MIRT869174	hsa-miR-3689c	CLIP-seq
MIRT1957888	hsa-miR-377	CLIP-seq
MIRT869178	hsa-miR-3926	CLIP-seq
MIRT869179	hsa-miR-3929	CLIP-seq
MIRT869254	hsa-miR-4267	CLIP-seq
MIRT869184	hsa-miR-4419b	CLIP-seq
MIRT869259	hsa-miR-4430	CLIP-seq
MIRT869186	hsa-miR-4478	CLIP-seq
MIRT869187	hsa-miR-4504	CLIP-seq
MIRT869263	hsa-miR-4505	CLIP-seq
MIRT869265	hsa-miR-4638-3p	CLIP-seq
MIRT1957895	hsa-miR-4643	CLIP-seq
MIRT869193	hsa-miR-4649-3p	CLIP-seq
MIRT869194	hsa-miR-4649-5p	CLIP-seq
MIRT2194903	hsa-miR-4690-3p	CLIP-seq
MIRT1957899	hsa-miR-4726-3p	CLIP-seq
MIRT869196	hsa-miR-4728-5p	CLIP-seq
MIRT2385649	hsa-miR-4730	CLIP-seq
MIRT869199	hsa-miR-4763-3p	CLIP-seq
MIRT869202	hsa-miR-4786-5p	CLIP-seq
MIRT869204	hsa-miR-485-5p	CLIP-seq
MIRT869209	hsa-miR-542-3p	CLIP-seq
MIRT869219	hsa-miR-548s	CLIP-seq
MIRT1957904	hsa-miR-642b	CLIP-seq
MIRT869287	hsa-miR-647	CLIP-seq
MIRT2385650	hsa-miR-708	CLIP-seq
MIRT869226	hsa-miR-766	CLIP-seq
MIRT869229	hsa-miR-890	CLIP-seq
MIRT869232	hsa-miR-940	CLIP-seq
MIRT869173	hsa-miR-3689a-3p	CLIP-seq
MIRT869174	hsa-miR-3689c	CLIP-seq
MIRT869254	hsa-miR-4267	CLIP-seq
MIRT2465051	hsa-miR-4709-5p	CLIP-seq
MIRT869229	hsa-miR-890	CLIP-seq
MIRT869143	hsa-miR-1207-5p	CLIP-seq
MIRT869234	hsa-miR-124	CLIP-seq
MIRT2498229	hsa-miR-129-5p	CLIP-seq
MIRT869150	hsa-miR-1827	CLIP-seq
MIRT869151	hsa-miR-1909	CLIP-seq
MIRT2498230	hsa-miR-2054	CLIP-seq
MIRT2498231	hsa-miR-2682	CLIP-seq
MIRT869158	hsa-miR-3065-3p	CLIP-seq
MIRT2498232	hsa-miR-3129-3p	CLIP-seq
MIRT2498233	hsa-miR-3140-3p	CLIP-seq
MIRT2498234	hsa-miR-3145-5p	CLIP-seq
MIRT869161	hsa-miR-3165	CLIP-seq
MIRT869164	hsa-miR-3189-3p	CLIP-seq
MIRT2498235	hsa-miR-3613-3p	CLIP-seq
MIRT869168	hsa-miR-3614-5p	CLIP-seq
MIRT869247	hsa-miR-3651	CLIP-seq
MIRT869171	hsa-miR-3665	CLIP-seq
MIRT869173	hsa-miR-3689a-3p	CLIP-seq
MIRT869174	hsa-miR-3689c	CLIP-seq
MIRT869175	hsa-miR-3714	CLIP-seq
MIRT2498236	hsa-miR-371b-5p	CLIP-seq
MIRT869250	hsa-miR-3910	CLIP-seq
MIRT869179	hsa-miR-3929	CLIP-seq
MIRT2498237	hsa-miR-4263	CLIP-seq
MIRT869254	hsa-miR-4267	CLIP-seq
MIRT869255	hsa-miR-4274	CLIP-seq
MIRT869184	hsa-miR-4419b	CLIP-seq
MIRT869261	hsa-miR-4477b	CLIP-seq
MIRT869186	hsa-miR-4478	CLIP-seq
MIRT2498238	hsa-miR-449c	CLIP-seq
MIRT869264	hsa-miR-4519	CLIP-seq
MIRT869192	hsa-miR-4524	CLIP-seq
MIRT1957895	hsa-miR-4643	CLIP-seq
MIRT869193	hsa-miR-4649-3p	CLIP-seq
MIRT869196	hsa-miR-4728-5p	CLIP-seq
MIRT2498239	hsa-miR-4735-5p	CLIP-seq
MIRT869197	hsa-miR-4736	CLIP-seq
MIRT869199	hsa-miR-4763-3p	CLIP-seq
MIRT869204	hsa-miR-485-5p	CLIP-seq
MIRT869282	hsa-miR-506	CLIP-seq
MIRT2498240	hsa-miR-544	CLIP-seq
MIRT2498241	hsa-miR-576-5p	CLIP-seq
MIRT2498242	hsa-miR-628-5p	CLIP-seq
MIRT1957904	hsa-miR-642b	CLIP-seq
MIRT2194904	hsa-miR-888	CLIP-seq
MIRT869229	hsa-miR-890	CLIP-seq
MIRT869232	hsa-miR-940	CLIP-seq
MIRT869290	hsa-miR-944	CLIP-seq
MIRT869143	hsa-miR-1207-5p	CLIP-seq
MIRT869150	hsa-miR-1827	CLIP-seq
MIRT869151	hsa-miR-1909	CLIP-seq
MIRT869156	hsa-miR-2964a-3p	CLIP-seq
MIRT869157	hsa-miR-302f	CLIP-seq
MIRT869158	hsa-miR-3065-3p	CLIP-seq
MIRT2498232	hsa-miR-3129-3p	CLIP-seq
MIRT869161	hsa-miR-3165	CLIP-seq
MIRT869164	hsa-miR-3189-3p	CLIP-seq
MIRT869168	hsa-miR-3614-5p	CLIP-seq
MIRT869171	hsa-miR-3665	CLIP-seq
MIRT869173	hsa-miR-3689a-3p	CLIP-seq
MIRT869174	hsa-miR-3689c	CLIP-seq
MIRT869175	hsa-miR-3714	CLIP-seq
MIRT2498236	hsa-miR-371b-5p	CLIP-seq
MIRT869179	hsa-miR-3929	CLIP-seq
MIRT869254	hsa-miR-4267	CLIP-seq
MIRT869184	hsa-miR-4419b	CLIP-seq
MIRT869261	hsa-miR-4477b	CLIP-seq
MIRT869186	hsa-miR-4478	CLIP-seq
MIRT1957895	hsa-miR-4643	CLIP-seq
MIRT869193	hsa-miR-4649-3p	CLIP-seq
MIRT2677503	hsa-miR-4719	CLIP-seq
MIRT869196	hsa-miR-4728-5p	CLIP-seq
MIRT2498239	hsa-miR-4735-5p	CLIP-seq
MIRT869197	hsa-miR-4736	CLIP-seq
MIRT869199	hsa-miR-4763-3p	CLIP-seq
MIRT869204	hsa-miR-485-5p	CLIP-seq
MIRT1957904	hsa-miR-642b	CLIP-seq
MIRT869229	hsa-miR-890	CLIP-seq
MIRT869232	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18029035, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0007605	Process	Sensory perception of sound	IMP	17503326
GO:0031625	Function	Ubiquitin protein ligase binding	IBA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	23418353
GO:0036064	Component	Ciliary basal body	IDA

Other IDs

• MIM: 611051
• HGNC: 18111
• e!Ensembl: ENSG00000152492

Protein

• UniProt ID: Q8IVM0
• Protein name: Coiled-coil domain-containing protein 50 (Protein Ymer)
• Protein function: Involved in EGFR signaling.
• PDB: 6LAN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15295	CCDC50_N	4 → 128	Coiled-coil domain-containing protein 50 N-terminus	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 and isoform 2 are coexpressed in placenta, liver, lung, kidney and pancreas. Only isoform 1 is detected in skeletal muscle, brain and heart. {ECO:0000269|PubMed:14527723}.
• Sequence:

  MAEVSIDQSKLPGVKEVCRDFAVLEDHTLAHSLQEQEIEHHLASNVQRNRLVQHDLQVAK
  QLQEEDLKAQAQLQKRYKDLEQQDCEIAQEIQEKLAIEAERRRIQEKKDEDIARLLQEKE
  LQEEKKRKKHFPEFPATRAYADSYYYEDGGMKPRVMKEAVSTPSRMAHRDQEWYDAEIAR
  KLQEEELLATQVDMRAAQVAQDEEIARLLMAEEKKAYKKAKEREKSSLDKRKQDPEWKPK
  TAKAANSKSKESDEPHHSKNERPARPPPPIMTDGEDADYTHFTNQQSSTRHFSKSESSHK
  GFHYKH

• Sequence length: 306

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
Autosomal dominant nonsyndromic hearing loss 44	Pathogenic	rs2108677025	RCV002259400	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CCDC50-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 44	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ 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	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic genetic hearing loss	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	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
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	37965313	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37552104	Stimulate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	19641524		★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Dominant 1	Deafness	Pubtator	36071244	Associate	★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Dominant 44	Deafness	GENOMICS_ENGLAND_DG	17503326		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 44	Deafness	BEFREE	27142990		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 44	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31811114	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31811114		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	17503326		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30028541		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	19641524		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	19641524		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	17503326, 27068579, 27911912		★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	19324102		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	38111587	Associate	★☆☆☆☆ Found in Text Mining only