AMMECR1 (AMMECR nuclear protein 1)

Gene

• Entrez ID: 9949
• Gene name: AMMECR nuclear protein 1
• Gene symbol: AMMECR1
• Synonyms (NCBI Gene): AMMERC1, MFHIEN
• Chromosome: X
• Chromosome location: Xq23
• Summary: The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057519337	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs1057519338	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004965	hsa-let-7a-5p	qRT-PCR	17942906
MIRT004949	hsa-miR-98-5p	qRT-PCR	17942906
MIRT019948	hsa-miR-375	Microarray	20215506
MIRT022777	hsa-miR-124-3p	Microarray	18668037
MIRT024255	hsa-miR-215-5p	Microarray	19074876
MIRT025165	hsa-miR-181a-5p	Microarray	17612493
MIRT026663	hsa-miR-192-5p	Microarray	19074876
MIRT049641	hsa-miR-92a-3p	CLASH	23622248
MIRT038670	hsa-miR-10b-3p	CLASH	23622248
MIRT524909	hsa-miR-8485	PAR-CLIP	21572407
MIRT559607	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT559606	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT559605	hsa-miR-603	PAR-CLIP	21572407
MIRT524908	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT524907	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT524906	hsa-miR-567	PAR-CLIP	21572407
MIRT559604	hsa-miR-3941	PAR-CLIP	21572407
MIRT524905	hsa-miR-3924	PAR-CLIP	21572407
MIRT524904	hsa-miR-297	PAR-CLIP	21572407
MIRT524909	hsa-miR-8485	PAR-CLIP	23446348
MIRT524908	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT524907	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT524906	hsa-miR-567	PAR-CLIP	23446348
MIRT524905	hsa-miR-3924	PAR-CLIP	23446348
MIRT524904	hsa-miR-297	PAR-CLIP	23446348
MIRT524909	hsa-miR-8485	PAR-CLIP	21572407
MIRT559607	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT559606	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT559605	hsa-miR-603	PAR-CLIP	21572407
MIRT524908	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT524907	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT524906	hsa-miR-567	PAR-CLIP	21572407
MIRT559604	hsa-miR-3941	PAR-CLIP	21572407
MIRT524905	hsa-miR-3924	PAR-CLIP	21572407
MIRT524904	hsa-miR-297	PAR-CLIP	21572407
MIRT524909	hsa-miR-8485	PAR-CLIP	23446348
MIRT524908	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT524907	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT524906	hsa-miR-567	PAR-CLIP	23446348
MIRT524905	hsa-miR-3924	PAR-CLIP	23446348
MIRT524904	hsa-miR-297	PAR-CLIP	23446348
MIRT779873	hsa-miR-1193	CLIP-seq
MIRT779874	hsa-miR-1205	CLIP-seq
MIRT779875	hsa-miR-1286	CLIP-seq
MIRT779876	hsa-miR-138	CLIP-seq
MIRT779877	hsa-miR-2392	CLIP-seq
MIRT779878	hsa-miR-3120-3p	CLIP-seq
MIRT779879	hsa-miR-3148	CLIP-seq
MIRT779880	hsa-miR-330-3p	CLIP-seq
MIRT779881	hsa-miR-4299	CLIP-seq
MIRT779882	hsa-miR-4328	CLIP-seq
MIRT779883	hsa-miR-4528	CLIP-seq
MIRT779884	hsa-miR-4659a-3p	CLIP-seq
MIRT779885	hsa-miR-4659b-3p	CLIP-seq
MIRT779886	hsa-miR-4722-5p	CLIP-seq
MIRT779887	hsa-miR-4728-3p	CLIP-seq
MIRT779888	hsa-miR-542-3p	CLIP-seq
MIRT779889	hsa-miR-545	CLIP-seq
MIRT779890	hsa-miR-548p	CLIP-seq
MIRT779891	hsa-miR-656	CLIP-seq
MIRT779892	hsa-miR-103b	CLIP-seq
MIRT779893	hsa-miR-1178	CLIP-seq
MIRT779894	hsa-miR-1184	CLIP-seq
MIRT779874	hsa-miR-1205	CLIP-seq
MIRT779895	hsa-miR-1229	CLIP-seq
MIRT779896	hsa-miR-124	CLIP-seq
MIRT779897	hsa-miR-128	CLIP-seq
MIRT779898	hsa-miR-2467-3p	CLIP-seq
MIRT779899	hsa-miR-27a	CLIP-seq
MIRT779900	hsa-miR-27b	CLIP-seq
MIRT779901	hsa-miR-3158-5p	CLIP-seq
MIRT779902	hsa-miR-3609	CLIP-seq
MIRT779903	hsa-miR-3614-5p	CLIP-seq
MIRT779904	hsa-miR-3647-3p	CLIP-seq
MIRT779905	hsa-miR-3678-3p	CLIP-seq
MIRT779906	hsa-miR-3692	CLIP-seq
MIRT779907	hsa-miR-3714	CLIP-seq
MIRT779908	hsa-miR-3910	CLIP-seq
MIRT779909	hsa-miR-3929	CLIP-seq
MIRT779910	hsa-miR-3942-3p	CLIP-seq
MIRT779911	hsa-miR-409-5p	CLIP-seq
MIRT779912	hsa-miR-4257	CLIP-seq
MIRT779913	hsa-miR-4274	CLIP-seq
MIRT779914	hsa-miR-4419b	CLIP-seq
MIRT779915	hsa-miR-4436b-5p	CLIP-seq
MIRT779916	hsa-miR-4478	CLIP-seq
MIRT779917	hsa-miR-4527	CLIP-seq
MIRT779918	hsa-miR-4646-5p	CLIP-seq
MIRT779919	hsa-miR-4742-3p	CLIP-seq
MIRT779920	hsa-miR-4747-5p	CLIP-seq
MIRT779921	hsa-miR-506	CLIP-seq
MIRT779922	hsa-miR-520g	CLIP-seq
MIRT779923	hsa-miR-520h	CLIP-seq
MIRT779924	hsa-miR-522	CLIP-seq
MIRT779925	hsa-miR-548ah	CLIP-seq
MIRT779926	hsa-miR-548n	CLIP-seq
MIRT779890	hsa-miR-548p	CLIP-seq
MIRT779927	hsa-miR-568	CLIP-seq
MIRT779928	hsa-miR-622	CLIP-seq
MIRT779929	hsa-miR-645	CLIP-seq
MIRT779930	hsa-miR-668	CLIP-seq
MIRT779931	hsa-miR-876-3p	CLIP-seq
MIRT779932	hsa-miR-103a	CLIP-seq
MIRT779892	hsa-miR-103b	CLIP-seq
MIRT779933	hsa-miR-106a	CLIP-seq
MIRT779934	hsa-miR-106b	CLIP-seq
MIRT779935	hsa-miR-107	CLIP-seq
MIRT779893	hsa-miR-1178	CLIP-seq
MIRT779936	hsa-miR-1179	CLIP-seq
MIRT779937	hsa-miR-1182	CLIP-seq
MIRT779894	hsa-miR-1184	CLIP-seq
MIRT779874	hsa-miR-1205	CLIP-seq
MIRT779938	hsa-miR-1207-5p	CLIP-seq
MIRT779939	hsa-miR-1236	CLIP-seq
MIRT779940	hsa-miR-1243	CLIP-seq
MIRT779941	hsa-miR-1245b-3p	CLIP-seq
MIRT779942	hsa-miR-1252	CLIP-seq
MIRT779943	hsa-miR-1258	CLIP-seq
MIRT779944	hsa-miR-1269	CLIP-seq
MIRT779945	hsa-miR-1269b	CLIP-seq
MIRT779946	hsa-miR-127-5p	CLIP-seq
MIRT779947	hsa-miR-1287	CLIP-seq
MIRT779948	hsa-miR-1288	CLIP-seq
MIRT779949	hsa-miR-129-5p	CLIP-seq
MIRT779950	hsa-miR-1301	CLIP-seq
MIRT779951	hsa-miR-130a	CLIP-seq
MIRT779952	hsa-miR-130b	CLIP-seq
MIRT779953	hsa-miR-1321	CLIP-seq
MIRT779954	hsa-miR-1324	CLIP-seq
MIRT779955	hsa-miR-134	CLIP-seq
MIRT779956	hsa-miR-1343	CLIP-seq
MIRT779957	hsa-miR-142-3p	CLIP-seq
MIRT779958	hsa-miR-142-5p	CLIP-seq
MIRT779959	hsa-miR-148a	CLIP-seq
MIRT779960	hsa-miR-148b	CLIP-seq
MIRT779961	hsa-miR-150	CLIP-seq
MIRT779962	hsa-miR-152	CLIP-seq
MIRT779963	hsa-miR-17	CLIP-seq
MIRT779964	hsa-miR-1827	CLIP-seq
MIRT779965	hsa-miR-1976	CLIP-seq
MIRT779966	hsa-miR-20a	CLIP-seq
MIRT779967	hsa-miR-20b	CLIP-seq
MIRT779968	hsa-miR-218	CLIP-seq
MIRT779969	hsa-miR-2278	CLIP-seq
MIRT779970	hsa-miR-23a	CLIP-seq
MIRT779971	hsa-miR-23b	CLIP-seq
MIRT779972	hsa-miR-23c	CLIP-seq
MIRT779898	hsa-miR-2467-3p	CLIP-seq
MIRT779973	hsa-miR-2681	CLIP-seq
MIRT779974	hsa-miR-2682	CLIP-seq
MIRT779975	hsa-miR-2964a-5p	CLIP-seq
MIRT779976	hsa-miR-298	CLIP-seq
MIRT779977	hsa-miR-29a	CLIP-seq
MIRT779978	hsa-miR-29b	CLIP-seq
MIRT779979	hsa-miR-29c	CLIP-seq
MIRT779980	hsa-miR-300	CLIP-seq
MIRT779981	hsa-miR-301a	CLIP-seq
MIRT779982	hsa-miR-301b	CLIP-seq
MIRT779983	hsa-miR-3118	CLIP-seq
MIRT779878	hsa-miR-3120-3p	CLIP-seq
MIRT779984	hsa-miR-3132	CLIP-seq
MIRT779985	hsa-miR-3135b	CLIP-seq
MIRT779986	hsa-miR-3143	CLIP-seq
MIRT779987	hsa-miR-3147	CLIP-seq
MIRT779879	hsa-miR-3148	CLIP-seq
MIRT779988	hsa-miR-3149	CLIP-seq
MIRT779989	hsa-miR-3152-3p	CLIP-seq
MIRT779990	hsa-miR-3153	CLIP-seq
MIRT779901	hsa-miR-3158-5p	CLIP-seq
MIRT779991	hsa-miR-3160-3p	CLIP-seq
MIRT779992	hsa-miR-3161	CLIP-seq
MIRT779993	hsa-miR-3163	CLIP-seq
MIRT779994	hsa-miR-3166	CLIP-seq
MIRT779995	hsa-miR-3173-3p	CLIP-seq
MIRT779996	hsa-miR-3175	CLIP-seq
MIRT779997	hsa-miR-3179	CLIP-seq
MIRT779998	hsa-miR-3185	CLIP-seq
MIRT779999	hsa-miR-3199	CLIP-seq
MIRT780000	hsa-miR-3202	CLIP-seq
MIRT780001	hsa-miR-323b-3p	CLIP-seq
MIRT779880	hsa-miR-330-3p	CLIP-seq
MIRT780002	hsa-miR-338-5p	CLIP-seq
MIRT780003	hsa-miR-340	CLIP-seq
MIRT780004	hsa-miR-34b	CLIP-seq
MIRT780005	hsa-miR-34c-3p	CLIP-seq
MIRT779902	hsa-miR-3609	CLIP-seq
MIRT780006	hsa-miR-3612	CLIP-seq
MIRT780007	hsa-miR-3613-3p	CLIP-seq
MIRT780008	hsa-miR-361-3p	CLIP-seq
MIRT780009	hsa-miR-3646	CLIP-seq
MIRT780010	hsa-miR-365	CLIP-seq
MIRT780011	hsa-miR-3654	CLIP-seq
MIRT780012	hsa-miR-3661	CLIP-seq
MIRT780013	hsa-miR-3662	CLIP-seq
MIRT780014	hsa-miR-3666	CLIP-seq
MIRT780015	hsa-miR-3667-5p	CLIP-seq
MIRT780016	hsa-miR-3668	CLIP-seq
MIRT780017	hsa-miR-3671	CLIP-seq
MIRT780018	hsa-miR-3676	CLIP-seq
MIRT779905	hsa-miR-3678-3p	CLIP-seq
MIRT780019	hsa-miR-3679-3p	CLIP-seq
MIRT780020	hsa-miR-3682-3p	CLIP-seq
MIRT779906	hsa-miR-3692	CLIP-seq
MIRT780021	hsa-miR-378	CLIP-seq
MIRT780022	hsa-miR-378b	CLIP-seq
MIRT780023	hsa-miR-378c	CLIP-seq
MIRT780024	hsa-miR-378d	CLIP-seq
MIRT780025	hsa-miR-378e	CLIP-seq
MIRT780026	hsa-miR-378f	CLIP-seq
MIRT780027	hsa-miR-378g	CLIP-seq
MIRT780028	hsa-miR-378h	CLIP-seq
MIRT780029	hsa-miR-378i	CLIP-seq
MIRT780030	hsa-miR-381	CLIP-seq
MIRT780031	hsa-miR-3915	CLIP-seq
MIRT780032	hsa-miR-3928	CLIP-seq
MIRT779909	hsa-miR-3929	CLIP-seq
MIRT780033	hsa-miR-3936	CLIP-seq
MIRT779910	hsa-miR-3942-3p	CLIP-seq
MIRT779911	hsa-miR-409-5p	CLIP-seq
MIRT780034	hsa-miR-422a	CLIP-seq
MIRT779912	hsa-miR-4257	CLIP-seq
MIRT780035	hsa-miR-4263	CLIP-seq
MIRT780036	hsa-miR-4278	CLIP-seq
MIRT780037	hsa-miR-4295	CLIP-seq
MIRT780038	hsa-miR-4316	CLIP-seq
MIRT779882	hsa-miR-4328	CLIP-seq
MIRT779914	hsa-miR-4419b	CLIP-seq
MIRT780039	hsa-miR-4422	CLIP-seq
MIRT780040	hsa-miR-4425	CLIP-seq
MIRT780041	hsa-miR-4428	CLIP-seq
MIRT779915	hsa-miR-4436b-5p	CLIP-seq
MIRT780042	hsa-miR-4437	CLIP-seq
MIRT780043	hsa-miR-4446-5p	CLIP-seq
MIRT780044	hsa-miR-4451	CLIP-seq
MIRT780045	hsa-miR-4470	CLIP-seq
MIRT780046	hsa-miR-4476	CLIP-seq
MIRT780047	hsa-miR-4477b	CLIP-seq
MIRT779916	hsa-miR-4478	CLIP-seq
MIRT780048	hsa-miR-4487	CLIP-seq
MIRT780049	hsa-miR-449c	CLIP-seq
MIRT780050	hsa-miR-4502	CLIP-seq
MIRT780051	hsa-miR-450b-5p	CLIP-seq
MIRT780052	hsa-miR-4511	CLIP-seq
MIRT780053	hsa-miR-4515	CLIP-seq
MIRT780054	hsa-miR-4517	CLIP-seq
MIRT779917	hsa-miR-4527	CLIP-seq
MIRT780055	hsa-miR-4533	CLIP-seq
MIRT780056	hsa-miR-454	CLIP-seq
MIRT780057	hsa-miR-455-5p	CLIP-seq
MIRT780058	hsa-miR-4641	CLIP-seq
MIRT779918	hsa-miR-4646-5p	CLIP-seq
MIRT779884	hsa-miR-4659a-3p	CLIP-seq
MIRT779885	hsa-miR-4659b-3p	CLIP-seq
MIRT780059	hsa-miR-4666-3p	CLIP-seq
MIRT780060	hsa-miR-4666-5p	CLIP-seq
MIRT780061	hsa-miR-4668-5p	CLIP-seq
MIRT780062	hsa-miR-4671-3p	CLIP-seq
MIRT780063	hsa-miR-4674	CLIP-seq
MIRT780064	hsa-miR-4677-3p	CLIP-seq
MIRT780065	hsa-miR-4679	CLIP-seq
MIRT780066	hsa-miR-4680-5p	CLIP-seq
MIRT780067	hsa-miR-4686	CLIP-seq
MIRT780068	hsa-miR-4698	CLIP-seq
MIRT780069	hsa-miR-4704-3p	CLIP-seq
MIRT780070	hsa-miR-4710	CLIP-seq
MIRT780071	hsa-miR-4711-5p	CLIP-seq
MIRT780072	hsa-miR-4716-5p	CLIP-seq
MIRT780073	hsa-miR-4724-5p	CLIP-seq
MIRT780074	hsa-miR-4732-5p	CLIP-seq
MIRT780075	hsa-miR-4738-3p	CLIP-seq
MIRT780076	hsa-miR-4738-5p	CLIP-seq
MIRT780077	hsa-miR-4739	CLIP-seq
MIRT780078	hsa-miR-4740-5p	CLIP-seq
MIRT779920	hsa-miR-4747-5p	CLIP-seq
MIRT780079	hsa-miR-4755-5p	CLIP-seq
MIRT780080	hsa-miR-4756-5p	CLIP-seq
MIRT780081	hsa-miR-4760-3p	CLIP-seq
MIRT780082	hsa-miR-4760-5p	CLIP-seq
MIRT780083	hsa-miR-4762-3p	CLIP-seq
MIRT780084	hsa-miR-4763-3p	CLIP-seq
MIRT780085	hsa-miR-4766-5p	CLIP-seq
MIRT780086	hsa-miR-4768-5p	CLIP-seq
MIRT780087	hsa-miR-4778-5p	CLIP-seq
MIRT780088	hsa-miR-4781-3p	CLIP-seq
MIRT780089	hsa-miR-4792	CLIP-seq
MIRT780090	hsa-miR-4796-3p	CLIP-seq
MIRT780091	hsa-miR-4797-5p	CLIP-seq
MIRT780092	hsa-miR-4799-5p	CLIP-seq
MIRT780093	hsa-miR-485-3p	CLIP-seq
MIRT780094	hsa-miR-499-3p	CLIP-seq
MIRT780095	hsa-miR-499a-3p	CLIP-seq
MIRT780096	hsa-miR-5047	CLIP-seq
MIRT780097	hsa-miR-507	CLIP-seq
MIRT780098	hsa-miR-517a	CLIP-seq
MIRT780099	hsa-miR-517b	CLIP-seq
MIRT780100	hsa-miR-517c	CLIP-seq
MIRT780101	hsa-miR-518a-5p	CLIP-seq
MIRT780102	hsa-miR-519d	CLIP-seq
MIRT779922	hsa-miR-520g	CLIP-seq
MIRT779923	hsa-miR-520h	CLIP-seq
MIRT780103	hsa-miR-527	CLIP-seq
MIRT779889	hsa-miR-545	CLIP-seq
MIRT780104	hsa-miR-548a-5p	CLIP-seq
MIRT780105	hsa-miR-548ab	CLIP-seq
MIRT780106	hsa-miR-548ac	CLIP-seq
MIRT780107	hsa-miR-548ae	CLIP-seq
MIRT779925	hsa-miR-548ah	CLIP-seq
MIRT780108	hsa-miR-548aj	CLIP-seq
MIRT780109	hsa-miR-548ak	CLIP-seq
MIRT780110	hsa-miR-548am	CLIP-seq
MIRT780111	hsa-miR-548b-5p	CLIP-seq
MIRT780112	hsa-miR-548c-3p	CLIP-seq
MIRT780113	hsa-miR-548c-5p	CLIP-seq
MIRT780114	hsa-miR-548d-3p	CLIP-seq
MIRT780115	hsa-miR-548d-5p	CLIP-seq
MIRT780116	hsa-miR-548g	CLIP-seq
MIRT780117	hsa-miR-548h	CLIP-seq
MIRT780118	hsa-miR-548i	CLIP-seq
MIRT780119	hsa-miR-548j	CLIP-seq
MIRT780120	hsa-miR-548l	CLIP-seq
MIRT779926	hsa-miR-548n	CLIP-seq
MIRT779890	hsa-miR-548p	CLIP-seq
MIRT780121	hsa-miR-548u	CLIP-seq
MIRT780122	hsa-miR-548w	CLIP-seq
MIRT780123	hsa-miR-548x	CLIP-seq
MIRT780124	hsa-miR-548y	CLIP-seq
MIRT780125	hsa-miR-548z	CLIP-seq
MIRT780126	hsa-miR-550b	CLIP-seq
MIRT780127	hsa-miR-555	CLIP-seq
MIRT780128	hsa-miR-556-5p	CLIP-seq
MIRT780129	hsa-miR-557	CLIP-seq
MIRT780130	hsa-miR-558	CLIP-seq
MIRT780131	hsa-miR-559	CLIP-seq
MIRT780132	hsa-miR-561	CLIP-seq
MIRT780133	hsa-miR-576-5p	CLIP-seq
MIRT780134	hsa-miR-579	CLIP-seq
MIRT780135	hsa-miR-586	CLIP-seq
MIRT780136	hsa-miR-599	CLIP-seq
MIRT780137	hsa-miR-606	CLIP-seq
MIRT780138	hsa-miR-607	CLIP-seq
MIRT780139	hsa-miR-631	CLIP-seq
MIRT780140	hsa-miR-634	CLIP-seq
MIRT779929	hsa-miR-645	CLIP-seq
MIRT780141	hsa-miR-650	CLIP-seq
MIRT779891	hsa-miR-656	CLIP-seq
MIRT780142	hsa-miR-659	CLIP-seq
MIRT780143	hsa-miR-664	CLIP-seq
MIRT780144	hsa-miR-7	CLIP-seq
MIRT780145	hsa-miR-767-3p	CLIP-seq
MIRT779931	hsa-miR-876-3p	CLIP-seq
MIRT780146	hsa-miR-889	CLIP-seq
MIRT780147	hsa-miR-922	CLIP-seq
MIRT780148	hsa-miR-93	CLIP-seq
MIRT780149	hsa-miR-935	CLIP-seq
MIRT780150	hsa-miR-940	CLIP-seq
MIRT779932	hsa-miR-103a	CLIP-seq
MIRT779935	hsa-miR-107	CLIP-seq
MIRT779893	hsa-miR-1178	CLIP-seq
MIRT779874	hsa-miR-1205	CLIP-seq
MIRT779895	hsa-miR-1229	CLIP-seq
MIRT779940	hsa-miR-1243	CLIP-seq
MIRT779941	hsa-miR-1245b-3p	CLIP-seq
MIRT779942	hsa-miR-1252	CLIP-seq
MIRT1930189	hsa-miR-1273f	CLIP-seq
MIRT779946	hsa-miR-127-5p	CLIP-seq
MIRT1930190	hsa-miR-1285	CLIP-seq
MIRT779949	hsa-miR-129-5p	CLIP-seq
MIRT779956	hsa-miR-1343	CLIP-seq
MIRT779958	hsa-miR-142-5p	CLIP-seq
MIRT779980	hsa-miR-300	CLIP-seq
MIRT1930191	hsa-miR-3074-5p	CLIP-seq
MIRT779988	hsa-miR-3149	CLIP-seq
MIRT779995	hsa-miR-3173-3p	CLIP-seq
MIRT779997	hsa-miR-3179	CLIP-seq
MIRT1930192	hsa-miR-3180-5p	CLIP-seq
MIRT1930193	hsa-miR-3187-5p	CLIP-seq
MIRT780000	hsa-miR-3202	CLIP-seq
MIRT780003	hsa-miR-340	CLIP-seq
MIRT780009	hsa-miR-3646	CLIP-seq
MIRT780011	hsa-miR-3654	CLIP-seq
MIRT779906	hsa-miR-3692	CLIP-seq
MIRT780030	hsa-miR-381	CLIP-seq
MIRT780033	hsa-miR-3936	CLIP-seq
MIRT1930194	hsa-miR-4450	CLIP-seq
MIRT780055	hsa-miR-4533	CLIP-seq
MIRT1930195	hsa-miR-4645-3p	CLIP-seq
MIRT1930196	hsa-miR-4664-3p	CLIP-seq
MIRT780059	hsa-miR-4666-3p	CLIP-seq
MIRT1930197	hsa-miR-4667-5p	CLIP-seq
MIRT1930198	hsa-miR-4700-5p	CLIP-seq
MIRT1930199	hsa-miR-4731-5p	CLIP-seq
MIRT1930200	hsa-miR-520a-5p	CLIP-seq
MIRT1930201	hsa-miR-520d-5p	CLIP-seq
MIRT1930202	hsa-miR-524-5p	CLIP-seq
MIRT1930203	hsa-miR-525-5p	CLIP-seq
MIRT780132	hsa-miR-561	CLIP-seq
MIRT779927	hsa-miR-568	CLIP-seq
MIRT780137	hsa-miR-606	CLIP-seq
MIRT1930204	hsa-miR-612	CLIP-seq
MIRT1930205	hsa-miR-616	CLIP-seq
MIRT779890	hsa-miR-548p	CLIP-seq
MIRT779932	hsa-miR-103a	CLIP-seq
MIRT779935	hsa-miR-107	CLIP-seq
MIRT2170930	hsa-miR-216a	CLIP-seq
MIRT2170931	hsa-miR-216b	CLIP-seq
MIRT779970	hsa-miR-23a	CLIP-seq
MIRT779971	hsa-miR-23b	CLIP-seq
MIRT779972	hsa-miR-23c	CLIP-seq
MIRT2170932	hsa-miR-3184	CLIP-seq
MIRT780002	hsa-miR-338-5p	CLIP-seq
MIRT2170933	hsa-miR-423-5p	CLIP-seq
MIRT780059	hsa-miR-4666-3p	CLIP-seq
MIRT780075	hsa-miR-4738-3p	CLIP-seq
MIRT1930201	hsa-miR-520d-5p	CLIP-seq
MIRT1930202	hsa-miR-524-5p	CLIP-seq
MIRT780112	hsa-miR-548c-3p	CLIP-seq
MIRT779890	hsa-miR-548p	CLIP-seq
MIRT779927	hsa-miR-568	CLIP-seq
MIRT779970	hsa-miR-23a	CLIP-seq
MIRT779971	hsa-miR-23b	CLIP-seq
MIRT779972	hsa-miR-23c	CLIP-seq
MIRT779920	hsa-miR-4747-5p	CLIP-seq
MIRT779890	hsa-miR-548p	CLIP-seq
MIRT2426257	hsa-miR-3124-3p	CLIP-seq
MIRT779906	hsa-miR-3692	CLIP-seq
MIRT779890	hsa-miR-548p	CLIP-seq
MIRT2426258	hsa-miR-600	CLIP-seq
MIRT779940	hsa-miR-1243	CLIP-seq
MIRT2473517	hsa-miR-1305	CLIP-seq
MIRT2473518	hsa-miR-3065-5p	CLIP-seq
MIRT779997	hsa-miR-3179	CLIP-seq
MIRT780000	hsa-miR-3202	CLIP-seq
MIRT779904	hsa-miR-3647-3p	CLIP-seq
MIRT780011	hsa-miR-3654	CLIP-seq
MIRT2473519	hsa-miR-3691-5p	CLIP-seq
MIRT780033	hsa-miR-3936	CLIP-seq
MIRT2473520	hsa-miR-421	CLIP-seq
MIRT780055	hsa-miR-4533	CLIP-seq
MIRT2473521	hsa-miR-4752	CLIP-seq
MIRT779924	hsa-miR-522	CLIP-seq
MIRT779940	hsa-miR-1243	CLIP-seq
MIRT779942	hsa-miR-1252	CLIP-seq
MIRT2674961	hsa-miR-1255a	CLIP-seq
MIRT2674962	hsa-miR-1255b	CLIP-seq
MIRT2473517	hsa-miR-1305	CLIP-seq
MIRT2473518	hsa-miR-3065-5p	CLIP-seq
MIRT779997	hsa-miR-3179	CLIP-seq
MIRT780000	hsa-miR-3202	CLIP-seq
MIRT779904	hsa-miR-3647-3p	CLIP-seq
MIRT780011	hsa-miR-3654	CLIP-seq
MIRT2473519	hsa-miR-3691-5p	CLIP-seq
MIRT780033	hsa-miR-3936	CLIP-seq
MIRT2473520	hsa-miR-421	CLIP-seq
MIRT2674963	hsa-miR-4325	CLIP-seq
MIRT2674964	hsa-miR-4503	CLIP-seq
MIRT780055	hsa-miR-4533	CLIP-seq
MIRT2674965	hsa-miR-4691-5p	CLIP-seq
MIRT2473521	hsa-miR-4752	CLIP-seq
MIRT2674966	hsa-miR-495	CLIP-seq
MIRT779924	hsa-miR-522	CLIP-seq
MIRT2426258	hsa-miR-600	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21304492, 25416956, 26871637, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	27811305
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA

Other IDs

• MIM: 300195
• HGNC: 467
• e!Ensembl: ENSG00000101935

Protein

• UniProt ID: Q9Y4X0
• Protein name: Nuclear protein AMMECR1 (AMME syndrome candidate gene 1 protein)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01871	AMMECR1	131 → 302	AMMECR1	Family

• Sequence:

  MAAGCCGVKKQKLSSSPPSGSGGGGGASSSSHCSGESQCRAGELGLGGAGTRLNGLGGLT
  GGGSGSGCTLSPPQGCGGGGGGIALSPPPSCGVGTLLSTPAAATSSSPSSSSAASSSSPG
  SRKMVVSAEMCCFCFDVLYCHLYGYQQPRTPRFTNEPYPLFVTWKIGRDKRLRGCIGTFS
  AMNLHSGLREYTLTSALKDSRFPPMTRDELPRLFCSVSLLTNFEDVCDYLDWEVGVHGIR
  IEFINEKGSKRTATYLPEVAKEQGWDHIQTIDSLLRKGGYKAPITNEFRKTIKLTRYRSE
  KMTLSYAEYLAHRQHHHFQNGIGHPLPPYNHYS

• Sequence length: 333

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	Likely pathogenic; Pathogenic	rs2522493719, rs1057519337, rs765498367, rs1569405174, rs750022919	RCV003333540 RCV000416359 RCV000515137 RCV003313164 RCV001293686
Short stature	Pathogenic	rs1569405174	RCV000736184

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
AMMECR1-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs750347793, rs1247385721, rs745844977, rs199797010	RCV003395645 RCV003399821 RCV003904227 RCV003967181
Skraban-Deardorff syndrome	Conflicting classifications of pathogenicity	rs775481785	RCV005860346

Associations from Text Mining
Disease Name	Relationship Type	References
Alport Syndrome Mental Retardation Midface Hypoplasia and Elliptocytosis	Associate	27811305
Apraxias	Associate	27811305
Body Dysmorphic Disorders	Associate	27811305
Cleft Palate	Associate	27811305, 35084080
Congenital Abnormalities	Associate	35084080
Developmental Disabilities	Associate	27811305, 35084080
Edema	Associate	35084080
Elliptocytosis 1	Associate	35084080
Hearing Loss	Associate	27811305, 35084080
Hearing Loss Sensorineural	Associate	35084080
Hip Dislocation Congenital	Associate	35084080
Immunoglobulin Light chain Amyloidosis	Associate	32922167
Intellectual Disability	Associate	27811305
Muscle Hypotonia	Associate	27811305
Nephrocalcinosis	Associate	27811305
Pericardial Effusion	Associate	35084080
Progressive hearing loss stapes fixation	Associate	35084080
Talipes	Associate	35084080