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

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
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	Likely pathogenic; Pathogenic	rs2522493719, rs1057519337, rs765498367, rs1569405174, rs750022919	RCV003333540 RCV000416359 RCV000515137 RCV003313164 RCV001293686	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short stature	Pathogenic	rs1569405174	RCV000736184	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMMECR1-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDFACE HYPOPLASIA-HEARING IMPAIRMENT-ELLIPTOCYTOSIS-NEPHROCALCINOSIS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skraban-Deardorff syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alport Syndrome	Alport Syndrome	BEFREE	30737907		★☆☆☆☆ Found in Text Mining only
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis	Amme complex	ORPHANET_DG	10049589, 27811305		★☆☆☆☆ Found in Text Mining only
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis	Amme complex	BEFREE	10828604, 28089922, 30737907		★☆☆☆☆ Found in Text Mining only
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	BEFREE	28089922		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	27811305	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31519561		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	27811305, 35084080	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	35084080	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27811305, 35084080	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	GENOMICS_ENGLAND_DG	27811305		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	30737907		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	35084080	Associate	★☆☆☆☆ Found in Text Mining only
Elliptocytosis 1	Hereditary elliptocytosis	Pubtator	35084080	Associate	★☆☆☆☆ Found in Text Mining only
Elliptocytosis, Hereditary	Elliptocytosis	BEFREE	28089922, 29193635, 30737907		★☆☆☆☆ Found in Text Mining only
Elliptocytosis, Hereditary	Elliptocytosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30737907		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	27811305, 35084080	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	35084080	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss, Mixed Conductive-Sensorineural	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	27811305	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30737907		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31519561		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS	MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS	UNIPROT_DG	27811305, 28089922		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS	MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS	GENOMICS_ENGLAND_DG	27811305		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS	MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS	MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	28089922		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31519561		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pericardial Effusion	Pericardial effusion	Pubtator	35084080	Associate	★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	35084080	Associate	★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only