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HCFC1 (host cell factor C1)

Gene

3054

Host cell factor C1

HCFC1

CFF, HCF, HCF-1, HCF1, HFC1, MAHCX, MRX3, PPP1R89, VCAF, XLID3

Xq28

This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage signal. This nuclear coactivator is proteolytically cleave

Show/Hide all(11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199953428	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200053475	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs318240758	C>T	Not-provided, pathogenic	Missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs376049260	G>A	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs397515485	G>A,C	Pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs397515486	G>A	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs397515487	C>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs797044886	C>T	Pathogenic	Missense variant, coding sequence variant
rs869312686	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs1064796833	CACCATGACTGGCGAGGAGGCCACCT>TG	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1131691718	G>A	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(342)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052040	hsa-let-7b-5p	CLASH	23622248
MIRT052040	hsa-let-7b-5p	CLASH	23622248
MIRT050444	hsa-miR-23a-3p	CLASH	23622248
MIRT049708	hsa-miR-92a-3p	CLASH	23622248
MIRT047097	hsa-miR-183-5p	CLASH	23622248
MIRT046582	hsa-miR-222-3p	CLASH	23622248
MIRT045650	hsa-miR-149-5p	CLASH	23622248
MIRT041883	hsa-miR-484	CLASH	23622248
MIRT041883	hsa-miR-484	CLASH	23622248
MIRT041503	hsa-miR-193b-3p	CLASH	23622248
MIRT041503	hsa-miR-193b-3p	CLASH	23622248
MIRT040355	hsa-miR-615-3p	CLASH	23622248
MIRT040355	hsa-miR-615-3p	CLASH	23622248
MIRT036089	hsa-miR-1296-5p	CLASH	23622248
MIRT563977	hsa-miR-6752-3p	PAR-CLIP	20371350
MIRT563976	hsa-miR-4722-3p	PAR-CLIP	20371350
MIRT563975	hsa-miR-6727-3p	PAR-CLIP	20371350
MIRT563974	hsa-miR-4480	PAR-CLIP	20371350
MIRT563973	hsa-miR-4662a-5p	PAR-CLIP	20371350
MIRT563972	hsa-miR-4691-5p	PAR-CLIP	20371350
MIRT563971	hsa-miR-6792-3p	PAR-CLIP	20371350
MIRT489846	hsa-miR-4781-5p	PAR-CLIP	23592263
MIRT489845	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT489844	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT489842	hsa-miR-6820-5p	PAR-CLIP	23592263
MIRT489843	hsa-miR-4706	PAR-CLIP	23592263
MIRT489841	hsa-miR-4749-5p	PAR-CLIP	23592263
MIRT489840	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT489839	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT489838	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT489837	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT489836	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT489835	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT489834	hsa-miR-541-3p	PAR-CLIP	23592263
MIRT489833	hsa-miR-654-5p	PAR-CLIP	23592263
MIRT489832	hsa-miR-1228-5p	PAR-CLIP	23592263
MIRT563977	hsa-miR-6752-3p	PAR-CLIP	20371350
MIRT563976	hsa-miR-4722-3p	PAR-CLIP	20371350
MIRT563975	hsa-miR-6727-3p	PAR-CLIP	20371350
MIRT563974	hsa-miR-4480	PAR-CLIP	20371350
MIRT563973	hsa-miR-4662a-5p	PAR-CLIP	20371350
MIRT563972	hsa-miR-4691-5p	PAR-CLIP	20371350
MIRT563971	hsa-miR-6792-3p	PAR-CLIP	20371350
MIRT489846	hsa-miR-4781-5p	PAR-CLIP	23592263
MIRT489845	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT489844	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT489842	hsa-miR-6820-5p	PAR-CLIP	23592263
MIRT489843	hsa-miR-4706	PAR-CLIP	23592263
MIRT489841	hsa-miR-4749-5p	PAR-CLIP	23592263
MIRT489840	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT489839	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT489838	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT489837	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT489836	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT489835	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT489834	hsa-miR-541-3p	PAR-CLIP	23592263
MIRT489833	hsa-miR-654-5p	PAR-CLIP	23592263
MIRT489832	hsa-miR-1228-5p	PAR-CLIP	23592263
MIRT1041820	hsa-miR-1197	CLIP-seq
MIRT1041821	hsa-miR-1204	CLIP-seq
MIRT1041822	hsa-miR-1283	CLIP-seq
MIRT1041823	hsa-miR-1291	CLIP-seq
MIRT1041824	hsa-miR-1293	CLIP-seq
MIRT1041825	hsa-miR-134	CLIP-seq
MIRT1041826	hsa-miR-136	CLIP-seq
MIRT1041827	hsa-miR-1587	CLIP-seq
MIRT1041828	hsa-miR-1972	CLIP-seq
MIRT1041829	hsa-miR-214	CLIP-seq
MIRT1041830	hsa-miR-22	CLIP-seq
MIRT1041831	hsa-miR-2467-3p	CLIP-seq
MIRT1041832	hsa-miR-3065-5p	CLIP-seq
MIRT1041833	hsa-miR-3118	CLIP-seq
MIRT1041834	hsa-miR-3147	CLIP-seq
MIRT1041835	hsa-miR-3154	CLIP-seq
MIRT1041836	hsa-miR-3175	CLIP-seq
MIRT1041837	hsa-miR-3202	CLIP-seq
MIRT1041838	hsa-miR-338-5p	CLIP-seq
MIRT1041839	hsa-miR-3606	CLIP-seq
MIRT1041840	hsa-miR-3613-3p	CLIP-seq
MIRT1041841	hsa-miR-3619-5p	CLIP-seq
MIRT1041842	hsa-miR-3647-5p	CLIP-seq
MIRT1041843	hsa-miR-3686	CLIP-seq
MIRT1041844	hsa-miR-3688-5p	CLIP-seq
MIRT1041845	hsa-miR-3915	CLIP-seq
MIRT1041846	hsa-miR-3925-3p	CLIP-seq
MIRT1041847	hsa-miR-3928	CLIP-seq
MIRT1041848	hsa-miR-3941	CLIP-seq
MIRT1041849	hsa-miR-4254	CLIP-seq
MIRT1041850	hsa-miR-4257	CLIP-seq
MIRT1041851	hsa-miR-4259	CLIP-seq
MIRT1041852	hsa-miR-4261	CLIP-seq
MIRT1041853	hsa-miR-4271	CLIP-seq
MIRT1041854	hsa-miR-4279	CLIP-seq
MIRT1041855	hsa-miR-4293	CLIP-seq
MIRT1041856	hsa-miR-4308	CLIP-seq
MIRT1041857	hsa-miR-4420	CLIP-seq
MIRT1041858	hsa-miR-4438	CLIP-seq
MIRT1041859	hsa-miR-4457	CLIP-seq
MIRT1041860	hsa-miR-4461	CLIP-seq
MIRT1041861	hsa-miR-4468	CLIP-seq
MIRT1041862	hsa-miR-4470	CLIP-seq
MIRT1041863	hsa-miR-4475	CLIP-seq
MIRT1041864	hsa-miR-4476	CLIP-seq
MIRT1041865	hsa-miR-4483	CLIP-seq
MIRT1041866	hsa-miR-4492	CLIP-seq
MIRT1041867	hsa-miR-4498	CLIP-seq
MIRT1041868	hsa-miR-4505	CLIP-seq
MIRT1041869	hsa-miR-4514	CLIP-seq
MIRT1041870	hsa-miR-4643	CLIP-seq
MIRT1041871	hsa-miR-4645-5p	CLIP-seq
MIRT1041872	hsa-miR-4655-3p	CLIP-seq
MIRT1041873	hsa-miR-4656	CLIP-seq
MIRT1041874	hsa-miR-466	CLIP-seq
MIRT1041875	hsa-miR-4670-3p	CLIP-seq
MIRT1041876	hsa-miR-4672	CLIP-seq
MIRT1041877	hsa-miR-4673	CLIP-seq
MIRT1041878	hsa-miR-4674	CLIP-seq
MIRT1041879	hsa-miR-4675	CLIP-seq
MIRT1041880	hsa-miR-4690-5p	CLIP-seq
MIRT1041881	hsa-miR-4692	CLIP-seq
MIRT1041882	hsa-miR-4700-3p	CLIP-seq
MIRT1041883	hsa-miR-4723-5p	CLIP-seq
MIRT1041884	hsa-miR-4725-3p	CLIP-seq
MIRT1041885	hsa-miR-4731-3p	CLIP-seq
MIRT1041886	hsa-miR-4741	CLIP-seq
MIRT1041887	hsa-miR-4749-3p	CLIP-seq
MIRT1041888	hsa-miR-4778-5p	CLIP-seq
MIRT1041889	hsa-miR-4789-3p	CLIP-seq
MIRT1041890	hsa-miR-4801	CLIP-seq
MIRT1041891	hsa-miR-495	CLIP-seq
MIRT1041892	hsa-miR-513a-5p	CLIP-seq
MIRT1041893	hsa-miR-515-5p	CLIP-seq
MIRT1041894	hsa-miR-541	CLIP-seq
MIRT1041895	hsa-miR-544b	CLIP-seq
MIRT1041896	hsa-miR-548ae	CLIP-seq
MIRT1041897	hsa-miR-548aj	CLIP-seq
MIRT1041898	hsa-miR-548am	CLIP-seq
MIRT1041899	hsa-miR-548x	CLIP-seq
MIRT1041900	hsa-miR-570	CLIP-seq
MIRT1041901	hsa-miR-587	CLIP-seq
MIRT1041902	hsa-miR-627	CLIP-seq
MIRT1041903	hsa-miR-761	CLIP-seq
MIRT1041904	hsa-miR-762	CLIP-seq
MIRT1041905	hsa-miR-765	CLIP-seq
MIRT1041906	hsa-miR-766	CLIP-seq
MIRT1041907	hsa-miR-875-3p	CLIP-seq
MIRT1041908	hsa-miR-887	CLIP-seq
MIRT1041909	hsa-miR-939	CLIP-seq
MIRT1556492	hsa-miR-4698	CLIP-seq
MIRT1556493	hsa-miR-548ad	CLIP-seq
MIRT1041821	hsa-miR-1204	CLIP-seq
MIRT2008762	hsa-miR-1207-5p	CLIP-seq
MIRT2008763	hsa-miR-1224-5p	CLIP-seq
MIRT2008764	hsa-miR-1234	CLIP-seq
MIRT2008765	hsa-miR-1237	CLIP-seq
MIRT2008766	hsa-miR-1238	CLIP-seq
MIRT2008767	hsa-miR-1248	CLIP-seq
MIRT1041822	hsa-miR-1283	CLIP-seq
MIRT1041824	hsa-miR-1293	CLIP-seq
MIRT1041826	hsa-miR-136	CLIP-seq
MIRT2008768	hsa-miR-138	CLIP-seq
MIRT1041827	hsa-miR-1587	CLIP-seq
MIRT2008769	hsa-miR-1909	CLIP-seq
MIRT2008770	hsa-miR-1914	CLIP-seq
MIRT1041828	hsa-miR-1972	CLIP-seq
MIRT1041829	hsa-miR-214	CLIP-seq
MIRT1041831	hsa-miR-2467-3p	CLIP-seq
MIRT2008771	hsa-miR-3064-5p	CLIP-seq
MIRT1041832	hsa-miR-3065-5p	CLIP-seq
MIRT2008772	hsa-miR-31	CLIP-seq
MIRT2008773	hsa-miR-3128	CLIP-seq
MIRT1041834	hsa-miR-3147	CLIP-seq
MIRT2008774	hsa-miR-3151	CLIP-seq
MIRT1041835	hsa-miR-3154	CLIP-seq
MIRT2008775	hsa-miR-3173-3p	CLIP-seq
MIRT1041837	hsa-miR-3202	CLIP-seq
MIRT1041838	hsa-miR-338-5p	CLIP-seq
MIRT2008776	hsa-miR-345	CLIP-seq
MIRT1041839	hsa-miR-3606	CLIP-seq
MIRT2008777	hsa-miR-3616-3p	CLIP-seq
MIRT1041841	hsa-miR-3619-5p	CLIP-seq
MIRT2008778	hsa-miR-3652	CLIP-seq
MIRT2008779	hsa-miR-3671	CLIP-seq
MIRT1041844	hsa-miR-3688-5p	CLIP-seq
MIRT2008780	hsa-miR-3692	CLIP-seq
MIRT2008781	hsa-miR-375	CLIP-seq
MIRT1041845	hsa-miR-3915	CLIP-seq
MIRT1041846	hsa-miR-3925-3p	CLIP-seq
MIRT1041847	hsa-miR-3928	CLIP-seq
MIRT2008782	hsa-miR-4256	CLIP-seq
MIRT1041851	hsa-miR-4259	CLIP-seq
MIRT2008783	hsa-miR-4268	CLIP-seq
MIRT1041853	hsa-miR-4271	CLIP-seq
MIRT1041854	hsa-miR-4279	CLIP-seq
MIRT2008784	hsa-miR-4290	CLIP-seq
MIRT1041855	hsa-miR-4293	CLIP-seq
MIRT2008785	hsa-miR-4317	CLIP-seq
MIRT2008786	hsa-miR-4417	CLIP-seq
MIRT1041857	hsa-miR-4420	CLIP-seq
MIRT2008787	hsa-miR-4430	CLIP-seq
MIRT2008788	hsa-miR-4436a	CLIP-seq
MIRT2008789	hsa-miR-4436b-3p	CLIP-seq
MIRT2008790	hsa-miR-4437	CLIP-seq
MIRT1041858	hsa-miR-4438	CLIP-seq
MIRT2008791	hsa-miR-4447	CLIP-seq
MIRT2008792	hsa-miR-4448	CLIP-seq
MIRT2008793	hsa-miR-4456	CLIP-seq
MIRT1041860	hsa-miR-4461	CLIP-seq
MIRT1041861	hsa-miR-4468	CLIP-seq
MIRT2008794	hsa-miR-4469	CLIP-seq
MIRT1041862	hsa-miR-4470	CLIP-seq
MIRT2008795	hsa-miR-4472	CLIP-seq
MIRT1041864	hsa-miR-4476	CLIP-seq
MIRT1041865	hsa-miR-4483	CLIP-seq
MIRT1041866	hsa-miR-4492	CLIP-seq
MIRT1041867	hsa-miR-4498	CLIP-seq
MIRT1041868	hsa-miR-4505	CLIP-seq
MIRT1041869	hsa-miR-4514	CLIP-seq
MIRT2008796	hsa-miR-4519	CLIP-seq
MIRT2008797	hsa-miR-4640-5p	CLIP-seq
MIRT1041871	hsa-miR-4645-5p	CLIP-seq
MIRT1041872	hsa-miR-4655-3p	CLIP-seq
MIRT1041873	hsa-miR-4656	CLIP-seq
MIRT1041875	hsa-miR-4670-3p	CLIP-seq
MIRT1041877	hsa-miR-4673	CLIP-seq
MIRT1041878	hsa-miR-4674	CLIP-seq
MIRT1041879	hsa-miR-4675	CLIP-seq
MIRT2008798	hsa-miR-4687-5p	CLIP-seq
MIRT1041880	hsa-miR-4690-5p	CLIP-seq
MIRT1041881	hsa-miR-4692	CLIP-seq
MIRT2008799	hsa-miR-4695-5p	CLIP-seq
MIRT1556492	hsa-miR-4698	CLIP-seq
MIRT1041883	hsa-miR-4723-5p	CLIP-seq
MIRT1041884	hsa-miR-4725-3p	CLIP-seq
MIRT2008800	hsa-miR-4726-5p	CLIP-seq
MIRT2008801	hsa-miR-4738-5p	CLIP-seq
MIRT1041886	hsa-miR-4741	CLIP-seq
MIRT2008802	hsa-miR-4742-5p	CLIP-seq
MIRT1041887	hsa-miR-4749-3p	CLIP-seq
MIRT2008803	hsa-miR-4751	CLIP-seq
MIRT2008804	hsa-miR-4755-3p	CLIP-seq
MIRT2008805	hsa-miR-4761-5p	CLIP-seq
MIRT2008806	hsa-miR-4762-5p	CLIP-seq
MIRT2008807	hsa-miR-4763-3p	CLIP-seq
MIRT2008808	hsa-miR-491-5p	CLIP-seq
MIRT2008809	hsa-miR-500a	CLIP-seq
MIRT1041892	hsa-miR-513a-5p	CLIP-seq
MIRT2008810	hsa-miR-516a-3p	CLIP-seq
MIRT1041894	hsa-miR-541	CLIP-seq
MIRT1041895	hsa-miR-544b	CLIP-seq
MIRT1556493	hsa-miR-548ad	CLIP-seq
MIRT2008811	hsa-miR-551a	CLIP-seq
MIRT2008812	hsa-miR-551b	CLIP-seq
MIRT1041900	hsa-miR-570	CLIP-seq
MIRT2008813	hsa-miR-607	CLIP-seq
MIRT2008814	hsa-miR-615-5p	CLIP-seq
MIRT1041902	hsa-miR-627	CLIP-seq
MIRT2008815	hsa-miR-645	CLIP-seq
MIRT2008816	hsa-miR-665	CLIP-seq
MIRT1041903	hsa-miR-761	CLIP-seq
MIRT1041904	hsa-miR-762	CLIP-seq
MIRT1041906	hsa-miR-766	CLIP-seq
MIRT2008817	hsa-miR-874	CLIP-seq
MIRT1041908	hsa-miR-887	CLIP-seq
MIRT1041909	hsa-miR-939	CLIP-seq
MIRT1041822	hsa-miR-1283	CLIP-seq
MIRT1041825	hsa-miR-134	CLIP-seq
MIRT1041826	hsa-miR-136	CLIP-seq
MIRT2008768	hsa-miR-138	CLIP-seq
MIRT2241204	hsa-miR-197	CLIP-seq
MIRT1041833	hsa-miR-3118	CLIP-seq
MIRT2241205	hsa-miR-3157-3p	CLIP-seq
MIRT1041838	hsa-miR-338-5p	CLIP-seq
MIRT1041839	hsa-miR-3606	CLIP-seq
MIRT1041843	hsa-miR-3686	CLIP-seq
MIRT2241206	hsa-miR-412	CLIP-seq
MIRT1041852	hsa-miR-4261	CLIP-seq
MIRT2008785	hsa-miR-4317	CLIP-seq
MIRT2008793	hsa-miR-4456	CLIP-seq
MIRT1041859	hsa-miR-4457	CLIP-seq
MIRT1041860	hsa-miR-4461	CLIP-seq
MIRT1041875	hsa-miR-4670-3p	CLIP-seq
MIRT1041876	hsa-miR-4672	CLIP-seq
MIRT2241207	hsa-miR-4714-3p	CLIP-seq
MIRT1041885	hsa-miR-4731-3p	CLIP-seq
MIRT1041888	hsa-miR-4778-5p	CLIP-seq
MIRT1041890	hsa-miR-4801	CLIP-seq
MIRT1041892	hsa-miR-513a-5p	CLIP-seq
MIRT2008810	hsa-miR-516a-3p	CLIP-seq
MIRT1041902	hsa-miR-627	CLIP-seq
MIRT2008817	hsa-miR-874	CLIP-seq
MIRT1041907	hsa-miR-875-3p	CLIP-seq
MIRT1041908	hsa-miR-887	CLIP-seq
MIRT1041876	hsa-miR-4672	CLIP-seq
MIRT2544770	hsa-miR-1275	CLIP-seq
MIRT1041826	hsa-miR-136	CLIP-seq
MIRT2544771	hsa-miR-146b-3p	CLIP-seq
MIRT2544772	hsa-miR-150	CLIP-seq
MIRT1041830	hsa-miR-22	CLIP-seq
MIRT2544773	hsa-miR-3117-5p	CLIP-seq
MIRT2544774	hsa-miR-3122	CLIP-seq
MIRT2544775	hsa-miR-3620	CLIP-seq
MIRT2544776	hsa-miR-3689a-3p	CLIP-seq
MIRT2544777	hsa-miR-3689c	CLIP-seq
MIRT2544778	hsa-miR-3689d	CLIP-seq
MIRT2008780	hsa-miR-3692	CLIP-seq
MIRT2544779	hsa-miR-369-3p	CLIP-seq
MIRT2544780	hsa-miR-374a	CLIP-seq
MIRT2544781	hsa-miR-374b	CLIP-seq
MIRT2544782	hsa-miR-3913-5p	CLIP-seq
MIRT2544783	hsa-miR-4260	CLIP-seq
MIRT2008796	hsa-miR-4519	CLIP-seq
MIRT2544784	hsa-miR-4525	CLIP-seq
MIRT2544785	hsa-miR-4530	CLIP-seq
MIRT2544786	hsa-miR-4665-5p	CLIP-seq
MIRT1041876	hsa-miR-4672	CLIP-seq
MIRT2544787	hsa-miR-4704-3p	CLIP-seq
MIRT1041883	hsa-miR-4723-5p	CLIP-seq
MIRT2544788	hsa-miR-4728-5p	CLIP-seq
MIRT2544789	hsa-miR-4746-3p	CLIP-seq
MIRT1041893	hsa-miR-515-5p	CLIP-seq
MIRT1041901	hsa-miR-587	CLIP-seq
MIRT2544790	hsa-miR-604	CLIP-seq
MIRT2544791	hsa-miR-625	CLIP-seq
MIRT2544792	hsa-miR-634	CLIP-seq
MIRT2544793	hsa-miR-647	CLIP-seq
MIRT2544770	hsa-miR-1275	CLIP-seq
MIRT1041826	hsa-miR-136	CLIP-seq
MIRT2544772	hsa-miR-150	CLIP-seq
MIRT1041830	hsa-miR-22	CLIP-seq
MIRT2544773	hsa-miR-3117-5p	CLIP-seq
MIRT2544775	hsa-miR-3620	CLIP-seq
MIRT2544778	hsa-miR-3689d	CLIP-seq
MIRT2544783	hsa-miR-4260	CLIP-seq
MIRT2544784	hsa-miR-4525	CLIP-seq
MIRT2544786	hsa-miR-4665-5p	CLIP-seq
MIRT1041876	hsa-miR-4672	CLIP-seq
MIRT2544787	hsa-miR-4704-3p	CLIP-seq
MIRT1041883	hsa-miR-4723-5p	CLIP-seq
MIRT1041893	hsa-miR-515-5p	CLIP-seq
MIRT1041901	hsa-miR-587	CLIP-seq
MIRT2544791	hsa-miR-625	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
E2F4	Activation	14532282
YY1	Unknown	23000143

Show/Hide all(37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000123	Component	Histone acetyltransferase complex	IDA	20018852
GO:0003682	Function	Chromatin binding	IDA	21285374
GO:0003713	Function	Transcription coactivator activity	IBA	21873635
GO:0003713	Function	Transcription coactivator activity	IMP	10675337, 23629655
GO:0005515	Function	Protein binding	IPI	9271389, 10629049, 10675337, 10871379, 10976766, 12244100, 12670868, 14532282, 15705566, 15960975, 17998332, 18391022, 18585351, 19188440, 19615732, 19815555, 20622854, 21285374, 21295698, 21909281, 23353889, 23629655, 23870121, 24211834, 24981860, 27705803, 28486698
GO:0005634	Component	Nucleus	IDA	7876203, 10623756, 19188440, 20091349, 21285374, 23629655
GO:0005654	Component	Nucleoplasm	TAS
GO:0005671	Component	Ada2/Gcn5/Ada3 transcription activator complex	IDA	18838386
GO:0005737	Component	Cytoplasm	IDA	10623756, 20091349
GO:0006338	Process	Chromatin remodeling	IBA	21873635
GO:0006355	Process	Regulation of transcription, DNA-templated	IBA	21873635
GO:0006355	Process	Regulation of transcription, DNA-templated	IDA	12670868
GO:0007005	Process	Mitochondrion organization	TAS
GO:0007049	Process	Cell cycle	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	21285374
GO:0016020	Component	Membrane	HDA	19946888
GO:0016579	Process	Protein deubiquitination	TAS
GO:0019046	Process	Release from viral latency	NAS	10675337
GO:0030674	Function	Protein-macromolecule adaptor activity	IPI	23629655
GO:0032991	Component	Protein-containing complex	IDA	23629655
GO:0033613	Function	Activating transcription factor binding	IPI	9199328
GO:0035097	Component	Histone methyltransferase complex	IBA	21873635
GO:0042802	Function	Identical protein binding	IPI	12670868
GO:0043025	Component	Neuronal cell body	IDA	20091349
GO:0043254	Process	Regulation of protein-containing complex assembly	IDA	10675337
GO:0043981	Process	Histone H4-K5 acetylation	IDA	20018852
GO:0043982	Process	Histone H4-K8 acetylation	IDA	20018852
GO:0043984	Process	Histone H4-K16 acetylation	IDA	20018852
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045787	Process	Positive regulation of cell cycle	TAS	10623756
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	23629655
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20200153
GO:0048188	Component	Set1C/COMPASS complex	IDA	17998332, 18838538
GO:0050821	Process	Protein stabilization	IDA	21285374
GO:0070461	Component	SAGA-type complex	IDA	18838386
GO:0071339	Component	MLL1 complex	IDA	15960975

MIM	HGNC	e!Ensembl
300019	4839	ENSG00000172534

Protein

UniProt ID

P51610

Protein name

Host cell factor 1 (HCF) (HCF-1) (C1 factor) (CFF) (VCAF) (VP16 accessory protein) [Cleaved into: HCF N-terminal chain 1; HCF N-terminal chain 2; HCF N-terminal chain 3; HCF N-terminal chain 4; HCF N-terminal chain 5; HCF N-terminal chain 6; HCF C-termina

Protein function

Transcriptional coregulator (By similarity). Serves as a scaffold protein, bridging interactions between transcription factors, including THAP11 and ZNF143, and transcriptional coregulators (PubMed:26416877). Involved in control of the cell cycl

PDB

4GO6 , 4N39 , 4N3A , 4N3B , 4N3C , 5LWV , 6MA1 , 6MA2 , 6MA3 , 6MA4 , 6MA5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01344	Kelch_1	32 → 70	Kelch motif	Repeat
PF13415	Kelch_3	264 → 330		Domain

Sequence

MASAVSPANLPAVLLQPRWKRVVGWSGPVPRPRHGHRAVAIKELIVVFGGGNEGIVDELH
VYNTATNQWFIPAVRGDIPPGCAAYGFVCDGTRLLVFGGMVEYGKYSNDLYELQASRWEW
KRLKAKTPKNGPPPCPRLGHSFSLVGNKCYLFGGLANDSEDPKNNIPRYLNDLYILELRP
GSGVVAWDIPITYGVLPPPRESHTAVVYTEKDNKKSKLVIYGGMSGCRLGDLWTLDIDTL
TWNKPSLSGVAPLPRSLHSATTIGNKMYVFGGWVPLVMDDVKVATHEKEWKCTNTLACLN
LDTMAWETILMDTLEDNIPRARAGHCAVAINTRLYIWSGRDGYRKAWNNQVCCKDLWYLE
TEKPPPPARVQLVRANTNSLEVSWGAVATADSYLLQLQKYDIPATAATATSPTPNPVPSV
PANPPKSPAPAAAAPAVQPLTQVGITLLPQAAPAPPTTTTIQVLPTVPGSSISVPTAART
QGVPAVLKVTGPQATTGTPLVTMRPASQAGKAPVTVTSLPAGVRMVVPTQSAQGTVIGSS
PQMSGMAALAAAAAATQKIPPSSAPTVLSVPAGTTIVKTMAVTPGTTTLPATVKVASSPV
MVSNPATRMLKTAAAQVGTSVSSATNTSTRPIITVHKSGTVTVAQQAQVVTTVVGGVTKT
ITLVKSPISVPGGSALISNLGKVMSVVQTKPVQTSAVTGQASTGPVTQIIQTKGPLPAGT
ILKLVTSADGKPTTIITTTQASGAGTKPTILGISSVSPSTTKPGTTTIIKTIPMSAIITQ
AGATGVTSSPGIKSPITIITTKVMTSGTGAPAKIITAVPKIATGHGQQGVTQVVLKGAPG
QPGTILRTVPMGGVRLVTPVTVSAVKPAVTTLVVKGTTGVTTLGTVTGTVSTSLAGAGGH
STSASLATPITTLGTIATLSSQVINPTAITVSAAQTTLTAAGGLTTPTITMQPVSQPTQV
TLITAPSGVEAQPVHDLPVSILASPTTEQPTATVTIADSGQGDVQPGTVTLVCSNPPCET
HETGTTNTATTTVVANLGGHPQPTQVQFVCDRQEAAASLVTSTVGQQNGSVVRVCSNPPC
ETHETGTTNTATTATSNMAGQHGCSNPPCETHETGTTNTATTAMSSVGANHQRDARRACA
AGTPAVIRISVATGALEAAQGSKSQCQTRQTSATSTTMTVMATGAPCSAGPLLGPSMARE
PGGRSPAFVQLAPLSSKVRLSSPSIKDLPAGRHSHAVSTAAMTRSSVGAGEPRMAPVCES
LQGGSPSTTVTVTALEALLCPSATVTQVCSNPPCETHETGTTNTATTSNAGSAQRVCSNP
PCETHETGTTHTATTATSNGGTGQPEGGQQPPAGRPCETHQTTSTGTTMSVSVGALLPDA
TSSHRTVESGLEVAAAPSVTPQAGTALLAPFPTQRVCSNPPCETHETGTTHTATTVTSNM
SSNQDPPPAASDQGEVESTQGDSVNITSSSAITTTVSSTLTRAVTTVTQSTPVPGPSVPP
PEELQVSPGPRQQLPPRQLLQSASTALMGESAEVLSASQTPELPAAVDLSSTGEPSSGQE
SAGSAVVATVVVQPPPPTQSEVDQLSLPQELMAEAQAGTTTLMVTGLTPEELAVTAAAEA
AAQAAATEEAQALAIQAVLQAAQQAVMGTGEPMDTSEAAATVTQAELGHLSAEGQEGQAT
TIPIVLTQQELAALVQQQQLQEAQAQQQHHHLPTEALAPADSLNDPAIESNCLNELAGTV
PSTVALLPSTATESLAPSNTFVAPQPVVVASPAKLQAAATLTEVANGIESLGVKPDLPPP
PSKAPMKKENQWFDVGVIKGTNVMVTHYFLPPDDAVPSDDDLGTVPDYNQLKKQELQPGT
AYKFRVAGINACGRGPFSEISAFKTCLPGFPGAPCAIKISKSPDGAHLTWEPPSVTSGKI
IEYSVYLAIQSSQAGGELKSSTPAQLAFMRVYCGPSPSCLVQSSSLSNAHIDYTTKPAII
FRIAARNEKGYGPATQVRWLQETSKDSSGTKPANKRPMSSPEMKSAPKKSKADGQ

Sequence length

2035

Interactions

View interactions

	KEGG		Reactome
	Polycomb repressive complex Cobalamin transport and metabolism Herpes simplex virus 1 infection		Transcriptional activation of mitochondrial biogenesis HATs acetylate histones UCH proteinases

Associated diseases

Show/Hide Causal Diseases (10)

Causal
Disease name	Disease term	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	Severe intellectual disability, Mental Retardation, Moderate intellectual disability, MENTAL RETARDATION, X-LINKED 3, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	24011988, 23000143
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation, x-linked	Mental Retardation, X-Linked 1	rs1603009115, rs199422240, rs199422234, rs782600511, rs199422235, rs199422236, rs199422237, rs199422238, rs199422239, rs2147483647, rs137852561, rs104894952, rs137852350, rs137852351, rs137852352, rs587776734, rs267606995, rs121918525, rs121918526, rs606231182, rs606231183, rs137852214, rs137852215, rs121918522, rs121918523, rs121918524, rs121918521, rs730882185, rs730882186, rs137853272, rs267607187, rs267607189, rs267607188, rs1602048836, rs1602048728, rs1328291159, rs28936077, rs121434615, rs121434616, rs786200913, rs1603370185, rs122468181, rs122468182, rs122461160, rs122461161, rs1373474125, rs137852815, rs387906499, rs122458138, rs1569423317, rs122458139, rs121434611, rs121434612, rs121434613, rs121434614, rs397515381, rs121434610, rs267607076, rs121434608, rs121434609, rs104894950, rs122454129, rs61748421, rs398122813, rs387906703, rs398122814, rs398122844, rs387906704, rs387906705, rs398122846, rs398122847, rs398122854, rs387906728, rs281860639, rs387906729, rs397515550, rs397515551, rs397518478, rs397518479, rs397515553, rs587777161, rs587777261, rs587777317, rs587777318, rs587777359, rs587777360, rs587777361, rs587780372, rs1555949612, rs267608329, rs61754457, rs587777605, rs267608465, rs786205133, rs606231282, rs587783357, rs587783360, rs587783361, rs587783362, rs587783364, rs587783366, rs587783368, rs587783370, rs587783371, rs137929307, rs727503977, rs727505397, rs786205208, rs794727270, rs139990565, rs794727881, rs796052231, rs796052232, rs796052234, rs796052235, rs796052236, rs796052230, rs796052226, rs797045024, rs797045025, rs869320681, rs797045026, rs797044862, rs797045140, rs879255583, rs879255584, rs797045920, rs797045433, rs749742837, rs797045431, rs782246658, rs797045646, rs863224854, rs863224879, rs864321627, rs864321628, rs864321631, rs869025343, rs869025344, rs869025345, rs869025588, rs869025589, rs869025590, rs869025591, rs869025592, rs752738546, rs875989829, rs869312692, rs1555988417, rs886039763, rs886039764, rs875989799, rs875989803, rs875989802, rs876661316, rs878853055, rs758719615, rs878854425, rs1569309474, rs1569309776, rs1569309459, rs1923775114, rs1569233549, rs1569230006, rs1569231897, rs886037836, rs1114167352, rs1929024034, rs886038208, rs886038209, rs886038210, rs886038211, rs886041767, rs886041481, rs886041705, rs886041876, rs886041701, rs886041595, rs886041433, rs886041774, rs886041971, rs1057518171, rs1057518019, rs1057518707, rs1057518697, rs1057518704, rs1057518729, rs1057518728, rs1057518730, rs1057518650, rs1057519431, rs1057519446, rs1057519430, rs1057519393, rs1057519396, rs1556909287, rs1556910184, rs1556912828, rs1556913180, rs1556913258, rs1556913268, rs782393002, rs1556955128, rs1556978515, rs1557006873, rs1557006903, rs1557024919, rs1557036757, rs1557036768, rs782099475, rs1057522024, rs1057520858, rs1057521657, rs1060499652, rs1060499661, rs1060499660, rs1060505032, rs1060505033, rs1064796023, rs1064794254, rs1064793796, rs1064796820, rs1064796827, rs1064795387, rs779508996, rs1064795512, rs1064793874, rs1085307760, rs1114167441, rs1131692155, rs1114167891, rs943295842, rs1131690786, rs1131691299, rs1131691887, rs1131691982, rs1131692040, rs1131692041, rs1131692042, rs1131692227, rs1135401788, rs1135401800, rs1135401762, rs1556014749, rs1556910261, rs1555972599, rs1556235551, rs1557314191, rs1555972628, rs1555980033, rs886128077, rs1556863435, rs1556016632, rs780775497, rs1555933969, rs1555953398, rs1555953819, rs1556016802, rs1556016731, rs1556016555, rs1555950011, rs1556518231, rs1555975458, rs1555986221, rs1556254569, rs904072058, rs1555953488, rs1064794574, rs1556861311, rs1555970404, rs1555981722, rs1556863398, rs1556865060, rs1556016292, rs1556016529, rs1556858912, rs1555932766, rs1556377028, rs1555930128, rs1556836399, rs1555974716, rs1556016224, rs1555981717, rs1556863340, rs1555954380, rs1556852362, rs1556220623, rs1555953548, rs1555954284, rs1556220029, rs1556206910, rs1555977199, rs1556863492, rs1555951993, rs1556880284, rs1555980523, rs1555924331, rs1555917927, rs1555954154, rs1556244406, rs1267519974, rs1555954105, rs1569335265, rs1569429756, rs374220843, rs1569302816, rs782660318, rs1569306724, rs1569309460, rs1569309816, rs1569309449, rs1569395541, rs1569288603, rs1569309484, rs1569057837, rs1569301036, rs1569290954, rs1569291699, rs1569300277, rs1569509136, rs1569394026, rs1569336024, rs1569203705, rs1569234653, rs1569291627, rs1602311804, rs1569238002, rs1569290395, rs1602220706, rs1569399945, rs1569389364, rs1569271378, rs1569271892, rs1569350993, rs1569277866, rs1569277899, rs1569295677, rs1569291261, rs1569380062, rs1603378331, rs1569261319, rs1569278313, rs1602284689, rs1602134459, rs1602424764, rs1602264294, rs1602291658, rs1602291861, rs1602383045, rs1602211123, rs1602279457, rs905353542, rs1602131859, rs1602131872, rs1602132216, rs1602183619, rs1602228596, rs1603305030, rs1602136369, rs1603377813, rs1602624914, rs1602134468, rs1602155923, rs1602183890, rs1602152230, rs1602387702, rs1602481623, rs1602506017, rs1602538353, rs1602624950, rs1603308066, rs1602577238, rs1602119305, rs1602126980, rs1602127262, rs1602220170, rs1602292205, rs1602424869, rs1602283534, rs1602293475, rs1602210960, rs1602147880, rs1601761445, rs1602122138, rs1602292076, rs1555988314, rs1602159841, rs1603371016, rs774419889, rs1602134248, rs1602135698, rs1602738933, rs1602385860, rs2031508845, rs1602550687, rs1602253509, rs1602231587, rs1602210346, rs1601957478, rs1602857000, rs1602511836, rs1019534975, rs1603379772, rs1924650670, rs1772040461, rs1602253464, rs2031389522, rs267608399, rs2074091750, rs2074369642, rs2074383129, rs2061745581, rs2073058023, rs1926795050, rs2080112579, rs2063908570, rs2063927503, rs2063923605, rs2063876114, rs2031456898	23000143
Methylmalonic acidemia with homocystinuria	Methylmalonic acidemia with homocystinuria, type cblX	rs779151199, rs1562112641, rs118204044, rs118204046, rs397509361, rs118204047, rs397509362, rs118204048, rs397509363, rs397509364, rs398124292, rs387907315, rs2080853826, rs398122908, rs318240758, rs397515485, rs397515487, rs864309743, rs864309742, rs869312686, rs749272546, rs886039425, rs769364566, rs188675529, rs1553454436, rs751828470, rs1379672870, rs1553162317, rs767795583, rs1573878695, rs1385597423, rs1682706954, rs1308639482, rs1380343985, rs1573880177
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Show/Hide Unknown Diseases (10)

Unknown
Disease name	Disease term	dbSNP ID	References
Brachycephaly	Brachycephaly
Dwarfism	Dwarfism
Facial paralysis	Facial paralysis
Neurosensory hearing impairment	Mild neurosensory hearing impairment
Liver neoplasms	Liver neoplasms		19255062
Liver cancer	Malignant neoplasm of liver		19255062
Meckel diverticulum	Meckel Diverticulum
Non-syndromic intellectual disability, x-linked	X-linked non-syndromic intellectual disability
Obsessive-compulsive disorder	Obsessive compulsive behavior
Syndactyly of the toes	2-3 toe syndactyly

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