Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2186
Gene name	Bromodomain PHD finger transcription factor
Gene symbol	BPTF
Synonyms (NCBI Gene)	FAC1FALZNEDDFLNURF301
Chromosome	17
Chromosome location	17q24.2
Summary	This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer`s disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as

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SNP ID	Visualize variation	Clinical significance	Consequence
rs753044214	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs782736894	T>C,G	Likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1135401778	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1158151918	C>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, synonymous variant, stop gained
rs1425998598	G>A,C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1555639076	A>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs1555639411	->G	Pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs1555649483	GAAGGACCAAGG>-	Pathogenic	Splice donor variant, non coding transcript variant, coding sequence variant
rs1555652383	TG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555652826	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555693714	A>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1568070621	AG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1598050118	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1598468564	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1598599641	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1598681680	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1599044870	->T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant

459

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018571	hsa-miR-335-5p	Microarray	18185580
MIRT052582	hsa-let-7a-5p	CLASH	23622248
MIRT051824	hsa-let-7c-5p	CLASH	23622248
MIRT050239	hsa-miR-25-3p	CLASH	23622248
MIRT047286	hsa-miR-181b-5p	CLASH	23622248
MIRT047009	hsa-miR-204-5p	CLASH	23622248
MIRT046732	hsa-miR-222-3p	CLASH	23622248
MIRT043889	hsa-miR-378a-3p	CLASH	23622248
MIRT043685	hsa-miR-342-3p	CLASH	23622248
MIRT039578	hsa-miR-33b-5p	CLASH	23622248
MIRT037859	hsa-miR-455-3p	CLASH	23622248
MIRT036935	hsa-miR-877-3p	CLASH	23622248
MIRT480738	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT480737	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT480733	hsa-miR-4257	HITS-CLIP	23706177
MIRT480731	hsa-miR-1247-3p	HITS-CLIP	23706177
MIRT480727	hsa-miR-4537	HITS-CLIP	23706177
MIRT480726	hsa-miR-1827	HITS-CLIP	23706177
MIRT480725	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT480724	hsa-miR-6086	HITS-CLIP	23706177
MIRT480723	hsa-miR-2467-3p	HITS-CLIP	23706177
MIRT480721	hsa-miR-3612	HITS-CLIP	23706177
MIRT480720	hsa-miR-650	HITS-CLIP	23706177
MIRT480719	hsa-miR-4792	HITS-CLIP	23706177
MIRT480718	hsa-miR-4710	HITS-CLIP	23706177
MIRT480715	hsa-miR-7855-5p	HITS-CLIP	23706177
MIRT675179	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT675178	hsa-miR-3677-5p	HITS-CLIP	23824327
MIRT675177	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT675176	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT675175	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT675174	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT675173	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT675172	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT675171	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT480740	hsa-miR-302f	PAR-CLIP	21572407
MIRT480738	hsa-miR-1910-3p	PAR-CLIP	21572407
MIRT480737	hsa-miR-6511a-5p	PAR-CLIP	21572407
MIRT480733	hsa-miR-4257	PAR-CLIP	21572407
MIRT480732	hsa-miR-4768-3p	PAR-CLIP	21572407
MIRT480731	hsa-miR-1247-3p	PAR-CLIP	21572407
MIRT480729	hsa-miR-219b-3p	PAR-CLIP	21572407
MIRT480727	hsa-miR-4537	PAR-CLIP	21572407
MIRT480726	hsa-miR-1827	PAR-CLIP	21572407
MIRT480725	hsa-miR-377-5p	PAR-CLIP	21572407
MIRT480724	hsa-miR-6086	PAR-CLIP	21572407
MIRT480723	hsa-miR-2467-3p	PAR-CLIP	21572407
MIRT480722	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT480721	hsa-miR-3612	PAR-CLIP	21572407
MIRT480720	hsa-miR-650	PAR-CLIP	21572407
MIRT480719	hsa-miR-4792	PAR-CLIP	21572407
MIRT480718	hsa-miR-4710	PAR-CLIP	21572407
MIRT480717	hsa-miR-1273e	PAR-CLIP	21572407
MIRT480715	hsa-miR-7855-5p	PAR-CLIP	21572407
MIRT538933	hsa-miR-3121-3p	PAR-CLIP	22012620
MIRT538932	hsa-miR-520d-5p	PAR-CLIP	22012620
MIRT538931	hsa-miR-524-5p	PAR-CLIP	22012620
MIRT538930	hsa-miR-4724-3p	PAR-CLIP	22012620
MIRT538929	hsa-miR-3671	PAR-CLIP	22012620
MIRT538928	hsa-miR-607	PAR-CLIP	22012620
MIRT480740	hsa-miR-302f	PAR-CLIP	23592263
MIRT480738	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT480737	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT480736	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT480735	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT480734	hsa-miR-940	PAR-CLIP	23592263
MIRT480733	hsa-miR-4257	PAR-CLIP	23592263
MIRT480732	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT480731	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT480730	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT480729	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT480728	hsa-miR-1273f	PAR-CLIP	23592263
MIRT480727	hsa-miR-4537	PAR-CLIP	23592263
MIRT480726	hsa-miR-1827	PAR-CLIP	23592263
MIRT480725	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT480724	hsa-miR-6086	PAR-CLIP	23592263
MIRT480723	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT480722	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT480721	hsa-miR-3612	PAR-CLIP	23592263
MIRT480720	hsa-miR-650	PAR-CLIP	23592263
MIRT480719	hsa-miR-4792	PAR-CLIP	23592263
MIRT480718	hsa-miR-4710	PAR-CLIP	23592263
MIRT480717	hsa-miR-1273e	PAR-CLIP	23592263
MIRT480716	hsa-miR-4642	PAR-CLIP	23592263
MIRT480715	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT480728	hsa-miR-1273f	PAR-CLIP	26701625
MIRT050239	hsa-miR-25-3p	PAR-CLIP	26701625
MIRT480727	hsa-miR-4537	PAR-CLIP	26701625
MIRT480716	hsa-miR-4642	PAR-CLIP	26701625
MIRT480718	hsa-miR-4710	PAR-CLIP	26701625
MIRT480719	hsa-miR-4792	PAR-CLIP	26701625
MIRT480715	hsa-miR-7855-5p	PAR-CLIP	26701625
MIRT480738	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT480737	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT480733	hsa-miR-4257	HITS-CLIP	23706177
MIRT480731	hsa-miR-1247-3p	HITS-CLIP	23706177
MIRT480727	hsa-miR-4537	HITS-CLIP	23706177
MIRT480726	hsa-miR-1827	HITS-CLIP	23706177
MIRT480725	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT480724	hsa-miR-6086	HITS-CLIP	23706177
MIRT480723	hsa-miR-2467-3p	HITS-CLIP	23706177
MIRT480721	hsa-miR-3612	HITS-CLIP	23706177
MIRT480720	hsa-miR-650	HITS-CLIP	23706177
MIRT480719	hsa-miR-4792	HITS-CLIP	23706177
MIRT480718	hsa-miR-4710	HITS-CLIP	23706177
MIRT480715	hsa-miR-7855-5p	HITS-CLIP	23706177
MIRT675179	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT675178	hsa-miR-3677-5p	HITS-CLIP	23824327
MIRT675177	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT675176	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT675175	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT675174	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT675173	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT675172	hsa-miR-891a-3p	HITS-CLIP	23824327
MIRT675171	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT480740	hsa-miR-302f	PAR-CLIP	21572407
MIRT480738	hsa-miR-1910-3p	PAR-CLIP	21572407
MIRT480737	hsa-miR-6511a-5p	PAR-CLIP	21572407
MIRT480733	hsa-miR-4257	PAR-CLIP	21572407
MIRT480732	hsa-miR-4768-3p	PAR-CLIP	21572407
MIRT480731	hsa-miR-1247-3p	PAR-CLIP	21572407
MIRT480729	hsa-miR-219b-3p	PAR-CLIP	21572407
MIRT480727	hsa-miR-4537	PAR-CLIP	21572407
MIRT480726	hsa-miR-1827	PAR-CLIP	21572407
MIRT480725	hsa-miR-377-5p	PAR-CLIP	21572407
MIRT480724	hsa-miR-6086	PAR-CLIP	21572407
MIRT480723	hsa-miR-2467-3p	PAR-CLIP	21572407
MIRT480722	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT480721	hsa-miR-3612	PAR-CLIP	21572407
MIRT480720	hsa-miR-650	PAR-CLIP	21572407
MIRT480719	hsa-miR-4792	PAR-CLIP	21572407
MIRT480718	hsa-miR-4710	PAR-CLIP	21572407
MIRT480717	hsa-miR-1273e	PAR-CLIP	21572407
MIRT480715	hsa-miR-7855-5p	PAR-CLIP	21572407
MIRT538933	hsa-miR-3121-3p	PAR-CLIP	22012620
MIRT538932	hsa-miR-520d-5p	PAR-CLIP	22012620
MIRT538931	hsa-miR-524-5p	PAR-CLIP	22012620
MIRT538930	hsa-miR-4724-3p	PAR-CLIP	22012620
MIRT538929	hsa-miR-3671	PAR-CLIP	22012620
MIRT538928	hsa-miR-607	PAR-CLIP	22012620
MIRT480740	hsa-miR-302f	PAR-CLIP	23592263
MIRT480738	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT480737	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT480736	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT480735	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT480734	hsa-miR-940	PAR-CLIP	23592263
MIRT480733	hsa-miR-4257	PAR-CLIP	23592263
MIRT480732	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT480731	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT480730	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT480729	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT480728	hsa-miR-1273f	PAR-CLIP	23592263
MIRT480727	hsa-miR-4537	PAR-CLIP	23592263
MIRT480726	hsa-miR-1827	PAR-CLIP	23592263
MIRT480725	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT480724	hsa-miR-6086	PAR-CLIP	23592263
MIRT480723	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT480722	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT480721	hsa-miR-3612	PAR-CLIP	23592263
MIRT480720	hsa-miR-650	PAR-CLIP	23592263
MIRT480719	hsa-miR-4792	PAR-CLIP	23592263
MIRT480718	hsa-miR-4710	PAR-CLIP	23592263
MIRT480717	hsa-miR-1273e	PAR-CLIP	23592263
MIRT480716	hsa-miR-4642	PAR-CLIP	23592263
MIRT480715	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT823868	hsa-miR-1254	CLIP-seq
MIRT823869	hsa-miR-1255a	CLIP-seq
MIRT823870	hsa-miR-1255b	CLIP-seq
MIRT823871	hsa-miR-1264	CLIP-seq
MIRT823872	hsa-miR-1269	CLIP-seq
MIRT823873	hsa-miR-1269b	CLIP-seq
MIRT823874	hsa-miR-1288	CLIP-seq
MIRT823875	hsa-miR-147	CLIP-seq
MIRT823876	hsa-miR-153	CLIP-seq
MIRT823877	hsa-miR-15a	CLIP-seq
MIRT823878	hsa-miR-15b	CLIP-seq
MIRT823879	hsa-miR-16	CLIP-seq
MIRT823880	hsa-miR-195	CLIP-seq
MIRT823881	hsa-miR-3064-3p	CLIP-seq
MIRT823882	hsa-miR-3116	CLIP-seq
MIRT823883	hsa-miR-3140-3p	CLIP-seq
MIRT823884	hsa-miR-3152-5p	CLIP-seq
MIRT823885	hsa-miR-3177-5p	CLIP-seq
MIRT823886	hsa-miR-3187-3p	CLIP-seq
MIRT823887	hsa-miR-3605-5p	CLIP-seq
MIRT823888	hsa-miR-3616-3p	CLIP-seq
MIRT823889	hsa-miR-3617	CLIP-seq
MIRT823890	hsa-miR-3655	CLIP-seq
MIRT823891	hsa-miR-3672	CLIP-seq
MIRT823892	hsa-miR-3678-3p	CLIP-seq
MIRT823893	hsa-miR-374c	CLIP-seq
MIRT823894	hsa-miR-376a	CLIP-seq
MIRT823895	hsa-miR-376b	CLIP-seq
MIRT823896	hsa-miR-376c	CLIP-seq
MIRT823897	hsa-miR-3926	CLIP-seq
MIRT823898	hsa-miR-3942-5p	CLIP-seq
MIRT823899	hsa-miR-412	CLIP-seq
MIRT823900	hsa-miR-424	CLIP-seq
MIRT823901	hsa-miR-4261	CLIP-seq
MIRT823902	hsa-miR-4293	CLIP-seq
MIRT823903	hsa-miR-4420	CLIP-seq
MIRT823904	hsa-miR-4435	CLIP-seq
MIRT823905	hsa-miR-4436b-3p	CLIP-seq
MIRT823906	hsa-miR-4448	CLIP-seq
MIRT823907	hsa-miR-4452	CLIP-seq
MIRT823908	hsa-miR-448	CLIP-seq
MIRT823909	hsa-miR-450b-5p	CLIP-seq
MIRT823910	hsa-miR-4515	CLIP-seq
MIRT823911	hsa-miR-4520a-3p	CLIP-seq
MIRT823912	hsa-miR-4520b-3p	CLIP-seq
MIRT823913	hsa-miR-4524	CLIP-seq
MIRT823914	hsa-miR-4529-3p	CLIP-seq
MIRT823915	hsa-miR-4660	CLIP-seq
MIRT823916	hsa-miR-4690-5p	CLIP-seq
MIRT823917	hsa-miR-4700-3p	CLIP-seq
MIRT823918	hsa-miR-4701-5p	CLIP-seq
MIRT823919	hsa-miR-4703-5p	CLIP-seq
MIRT823920	hsa-miR-4721	CLIP-seq
MIRT823921	hsa-miR-4727-5p	CLIP-seq
MIRT823922	hsa-miR-4740-5p	CLIP-seq
MIRT823923	hsa-miR-4769-3p	CLIP-seq
MIRT823924	hsa-miR-4774-3p	CLIP-seq
MIRT823925	hsa-miR-4774-5p	CLIP-seq
MIRT823926	hsa-miR-4778-3p	CLIP-seq
MIRT823927	hsa-miR-494	CLIP-seq
MIRT823928	hsa-miR-497	CLIP-seq
MIRT823929	hsa-miR-503	CLIP-seq
MIRT823930	hsa-miR-507	CLIP-seq
MIRT823931	hsa-miR-518d-5p	CLIP-seq
MIRT823932	hsa-miR-519b-5p	CLIP-seq
MIRT823933	hsa-miR-519c-5p	CLIP-seq
MIRT823934	hsa-miR-520c-5p	CLIP-seq
MIRT823935	hsa-miR-526a	CLIP-seq
MIRT823936	hsa-miR-548q	CLIP-seq
MIRT823937	hsa-miR-548s	CLIP-seq
MIRT823938	hsa-miR-557	CLIP-seq
MIRT823939	hsa-miR-561	CLIP-seq
MIRT823940	hsa-miR-578	CLIP-seq
MIRT823941	hsa-miR-588	CLIP-seq
MIRT823942	hsa-miR-590-3p	CLIP-seq
MIRT823943	hsa-miR-596	CLIP-seq
MIRT823944	hsa-miR-641	CLIP-seq
MIRT823945	hsa-miR-643	CLIP-seq
MIRT823946	hsa-miR-646	CLIP-seq
MIRT823947	hsa-miR-653	CLIP-seq
MIRT823948	hsa-miR-655	CLIP-seq
MIRT823949	hsa-miR-661	CLIP-seq
MIRT823950	hsa-miR-720	CLIP-seq
MIRT823951	hsa-miR-1324	CLIP-seq
MIRT823877	hsa-miR-15a	CLIP-seq
MIRT823878	hsa-miR-15b	CLIP-seq
MIRT823879	hsa-miR-16	CLIP-seq
MIRT823880	hsa-miR-195	CLIP-seq
MIRT823885	hsa-miR-3177-5p	CLIP-seq
MIRT823888	hsa-miR-3616-3p	CLIP-seq
MIRT823889	hsa-miR-3617	CLIP-seq
MIRT823894	hsa-miR-376a	CLIP-seq
MIRT823895	hsa-miR-376b	CLIP-seq
MIRT823896	hsa-miR-376c	CLIP-seq
MIRT823898	hsa-miR-3942-5p	CLIP-seq
MIRT823900	hsa-miR-424	CLIP-seq
MIRT823952	hsa-miR-4289	CLIP-seq
MIRT823905	hsa-miR-4436b-3p	CLIP-seq
MIRT823906	hsa-miR-4448	CLIP-seq
MIRT823913	hsa-miR-4524	CLIP-seq
MIRT823915	hsa-miR-4660	CLIP-seq
MIRT823919	hsa-miR-4703-5p	CLIP-seq
MIRT823920	hsa-miR-4721	CLIP-seq
MIRT823928	hsa-miR-497	CLIP-seq
MIRT823929	hsa-miR-503	CLIP-seq
MIRT823931	hsa-miR-518d-5p	CLIP-seq
MIRT823932	hsa-miR-519b-5p	CLIP-seq
MIRT823933	hsa-miR-519c-5p	CLIP-seq
MIRT823934	hsa-miR-520c-5p	CLIP-seq
MIRT823935	hsa-miR-526a	CLIP-seq
MIRT823939	hsa-miR-561	CLIP-seq
MIRT823940	hsa-miR-578	CLIP-seq
MIRT823944	hsa-miR-641	CLIP-seq
MIRT823945	hsa-miR-643	CLIP-seq
MIRT823946	hsa-miR-646	CLIP-seq
MIRT1943573	hsa-miR-1245b-3p	CLIP-seq
MIRT823871	hsa-miR-1264	CLIP-seq
MIRT823881	hsa-miR-3064-3p	CLIP-seq
MIRT1943574	hsa-miR-3137	CLIP-seq
MIRT1943575	hsa-miR-3161	CLIP-seq
MIRT823889	hsa-miR-3617	CLIP-seq
MIRT823890	hsa-miR-3655	CLIP-seq
MIRT1943576	hsa-miR-380	CLIP-seq
MIRT1943577	hsa-miR-3922-5p	CLIP-seq
MIRT1943578	hsa-miR-4272	CLIP-seq
MIRT823902	hsa-miR-4293	CLIP-seq
MIRT1943579	hsa-miR-433	CLIP-seq
MIRT823906	hsa-miR-4448	CLIP-seq
MIRT823907	hsa-miR-4452	CLIP-seq
MIRT1943580	hsa-miR-4495	CLIP-seq
MIRT1943581	hsa-miR-452	CLIP-seq
MIRT1943582	hsa-miR-4655-5p	CLIP-seq
MIRT1943583	hsa-miR-4662a-3p	CLIP-seq
MIRT1943584	hsa-miR-4676-3p	CLIP-seq
MIRT823917	hsa-miR-4700-3p	CLIP-seq
MIRT823921	hsa-miR-4727-5p	CLIP-seq
MIRT1943585	hsa-miR-4775	CLIP-seq
MIRT1943586	hsa-miR-4797-5p	CLIP-seq
MIRT823931	hsa-miR-518d-5p	CLIP-seq
MIRT823932	hsa-miR-519b-5p	CLIP-seq
MIRT823933	hsa-miR-519c-5p	CLIP-seq
MIRT823934	hsa-miR-520c-5p	CLIP-seq
MIRT823935	hsa-miR-526a	CLIP-seq
MIRT1943587	hsa-miR-548aa	CLIP-seq
MIRT1943588	hsa-miR-548ac	CLIP-seq
MIRT1943589	hsa-miR-548ae	CLIP-seq
MIRT1943590	hsa-miR-548aj	CLIP-seq
MIRT1943591	hsa-miR-548am	CLIP-seq
MIRT1943592	hsa-miR-548d-3p	CLIP-seq
MIRT1943593	hsa-miR-548x	CLIP-seq
MIRT1943594	hsa-miR-548z	CLIP-seq
MIRT823942	hsa-miR-590-3p	CLIP-seq
MIRT823943	hsa-miR-596	CLIP-seq
MIRT823944	hsa-miR-641	CLIP-seq
MIRT823945	hsa-miR-643	CLIP-seq
MIRT1943595	hsa-miR-665	CLIP-seq
MIRT1943573	hsa-miR-1245b-3p	CLIP-seq
MIRT2182235	hsa-miR-1256	CLIP-seq
MIRT823871	hsa-miR-1264	CLIP-seq
MIRT2182236	hsa-miR-128	CLIP-seq
MIRT2182237	hsa-miR-1287	CLIP-seq
MIRT2182238	hsa-miR-1290	CLIP-seq
MIRT823875	hsa-miR-147	CLIP-seq
MIRT2182239	hsa-miR-148a	CLIP-seq
MIRT2182240	hsa-miR-148b	CLIP-seq
MIRT2182241	hsa-miR-152	CLIP-seq
MIRT823877	hsa-miR-15a	CLIP-seq
MIRT823878	hsa-miR-15b	CLIP-seq
MIRT823879	hsa-miR-16	CLIP-seq
MIRT823880	hsa-miR-195	CLIP-seq
MIRT2182242	hsa-miR-2278	CLIP-seq
MIRT2182243	hsa-miR-3065-3p	CLIP-seq
MIRT1943574	hsa-miR-3137	CLIP-seq
MIRT1943575	hsa-miR-3161	CLIP-seq
MIRT2182244	hsa-miR-3167	CLIP-seq
MIRT823885	hsa-miR-3177-5p	CLIP-seq
MIRT2182245	hsa-miR-338-5p	CLIP-seq
MIRT823888	hsa-miR-3616-3p	CLIP-seq
MIRT823889	hsa-miR-3617	CLIP-seq
MIRT2182246	hsa-miR-3652	CLIP-seq
MIRT823890	hsa-miR-3655	CLIP-seq
MIRT823891	hsa-miR-3672	CLIP-seq
MIRT823892	hsa-miR-3678-3p	CLIP-seq
MIRT823894	hsa-miR-376a	CLIP-seq
MIRT823895	hsa-miR-376b	CLIP-seq
MIRT823896	hsa-miR-376c	CLIP-seq
MIRT1943576	hsa-miR-380	CLIP-seq
MIRT823898	hsa-miR-3942-5p	CLIP-seq
MIRT823899	hsa-miR-412	CLIP-seq
MIRT823900	hsa-miR-424	CLIP-seq
MIRT1943578	hsa-miR-4272	CLIP-seq
MIRT823902	hsa-miR-4293	CLIP-seq
MIRT2182247	hsa-miR-4307	CLIP-seq
MIRT1943579	hsa-miR-433	CLIP-seq
MIRT823903	hsa-miR-4420	CLIP-seq
MIRT2182248	hsa-miR-4430	CLIP-seq
MIRT823905	hsa-miR-4436b-3p	CLIP-seq
MIRT823906	hsa-miR-4448	CLIP-seq
MIRT2182249	hsa-miR-4468	CLIP-seq
MIRT2182250	hsa-miR-4474-5p	CLIP-seq
MIRT2182251	hsa-miR-4492	CLIP-seq
MIRT1943580	hsa-miR-4495	CLIP-seq
MIRT2182252	hsa-miR-4498	CLIP-seq
MIRT2182253	hsa-miR-4508	CLIP-seq
MIRT823913	hsa-miR-4524	CLIP-seq
MIRT2182254	hsa-miR-4653-3p	CLIP-seq
MIRT1943582	hsa-miR-4655-5p	CLIP-seq
MIRT823915	hsa-miR-4660	CLIP-seq
MIRT1943583	hsa-miR-4662a-3p	CLIP-seq
MIRT2182255	hsa-miR-4666-3p	CLIP-seq
MIRT823919	hsa-miR-4703-5p	CLIP-seq
MIRT2182256	hsa-miR-4709-3p	CLIP-seq
MIRT2182257	hsa-miR-4711-5p	CLIP-seq
MIRT823920	hsa-miR-4721	CLIP-seq
MIRT823926	hsa-miR-4778-3p	CLIP-seq
MIRT1943586	hsa-miR-4797-5p	CLIP-seq
MIRT2182258	hsa-miR-491-3p	CLIP-seq
MIRT823928	hsa-miR-497	CLIP-seq
MIRT823929	hsa-miR-503	CLIP-seq
MIRT823931	hsa-miR-518d-5p	CLIP-seq
MIRT823932	hsa-miR-519b-5p	CLIP-seq
MIRT823933	hsa-miR-519c-5p	CLIP-seq
MIRT823934	hsa-miR-520c-5p	CLIP-seq
MIRT823935	hsa-miR-526a	CLIP-seq
MIRT823936	hsa-miR-548q	CLIP-seq
MIRT2182259	hsa-miR-587	CLIP-seq
MIRT823943	hsa-miR-596	CLIP-seq
MIRT823944	hsa-miR-641	CLIP-seq
MIRT823945	hsa-miR-643	CLIP-seq
MIRT823946	hsa-miR-646	CLIP-seq
MIRT1943595	hsa-miR-665	CLIP-seq
MIRT2182260	hsa-miR-762	CLIP-seq
MIRT2182261	hsa-miR-876-5p	CLIP-seq
MIRT2444872	hsa-miR-129-5p	CLIP-seq
MIRT2444873	hsa-miR-320a	CLIP-seq
MIRT2444874	hsa-miR-320b	CLIP-seq
MIRT2444875	hsa-miR-320c	CLIP-seq
MIRT2444876	hsa-miR-320d	CLIP-seq
MIRT2444877	hsa-miR-4282	CLIP-seq
MIRT2444878	hsa-miR-4429	CLIP-seq
MIRT823909	hsa-miR-450b-5p	CLIP-seq
MIRT823930	hsa-miR-507	CLIP-seq
MIRT2444879	hsa-miR-518a-5p	CLIP-seq
MIRT2444880	hsa-miR-527	CLIP-seq
MIRT2444881	hsa-miR-548c-3p	CLIP-seq
MIRT823938	hsa-miR-557	CLIP-seq
MIRT2444872	hsa-miR-129-5p	CLIP-seq
MIRT2485940	hsa-miR-1305	CLIP-seq
MIRT823881	hsa-miR-3064-3p	CLIP-seq
MIRT1943574	hsa-miR-3137	CLIP-seq
MIRT2485941	hsa-miR-3160-5p	CLIP-seq
MIRT823888	hsa-miR-3616-3p	CLIP-seq
MIRT1943577	hsa-miR-3922-5p	CLIP-seq
MIRT823898	hsa-miR-3942-5p	CLIP-seq
MIRT1943578	hsa-miR-4272	CLIP-seq
MIRT823952	hsa-miR-4289	CLIP-seq
MIRT823905	hsa-miR-4436b-3p	CLIP-seq
MIRT823909	hsa-miR-450b-5p	CLIP-seq
MIRT1943581	hsa-miR-452	CLIP-seq
MIRT1943584	hsa-miR-4676-3p	CLIP-seq
MIRT823919	hsa-miR-4703-5p	CLIP-seq
MIRT823920	hsa-miR-4721	CLIP-seq
MIRT1943585	hsa-miR-4775	CLIP-seq
MIRT1943586	hsa-miR-4797-5p	CLIP-seq
MIRT2182258	hsa-miR-491-3p	CLIP-seq
MIRT823930	hsa-miR-507	CLIP-seq
MIRT1943587	hsa-miR-548aa	CLIP-seq
MIRT823938	hsa-miR-557	CLIP-seq
MIRT823939	hsa-miR-561	CLIP-seq
MIRT823940	hsa-miR-578	CLIP-seq
MIRT823942	hsa-miR-590-3p	CLIP-seq
MIRT823947	hsa-miR-653	CLIP-seq
MIRT1943595	hsa-miR-665	CLIP-seq
MIRT2444872	hsa-miR-129-5p	CLIP-seq
MIRT1943574	hsa-miR-3137	CLIP-seq
MIRT2485941	hsa-miR-3160-5p	CLIP-seq
MIRT823888	hsa-miR-3616-3p	CLIP-seq
MIRT1943577	hsa-miR-3922-5p	CLIP-seq
MIRT823898	hsa-miR-3942-5p	CLIP-seq
MIRT1943578	hsa-miR-4272	CLIP-seq
MIRT823905	hsa-miR-4436b-3p	CLIP-seq
MIRT823909	hsa-miR-450b-5p	CLIP-seq
MIRT1943581	hsa-miR-452	CLIP-seq
MIRT1943584	hsa-miR-4676-3p	CLIP-seq
MIRT823919	hsa-miR-4703-5p	CLIP-seq
MIRT823920	hsa-miR-4721	CLIP-seq
MIRT1943585	hsa-miR-4775	CLIP-seq
MIRT1943586	hsa-miR-4797-5p	CLIP-seq
MIRT2182258	hsa-miR-491-3p	CLIP-seq
MIRT823930	hsa-miR-507	CLIP-seq
MIRT823938	hsa-miR-557	CLIP-seq
MIRT823940	hsa-miR-578	CLIP-seq
MIRT823942	hsa-miR-590-3p	CLIP-seq
MIRT1943595	hsa-miR-665	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10727212
GO:0000785	Component	Chromatin	IDA	27141965
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0001892	Process	Embryonic placenta development	IEA
GO:0005515	Function	Protein binding	IPI	14609955, 15640247, 21596426, 22729083, 35271311
GO:0005634	Component	Nucleus	IDA	10403843, 14609955, 25593309
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	14609955
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	7621746
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IDA	14609955
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	14609955
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IMP	10575013
GO:0007420	Process	Brain development	IMP	14609955
GO:0007420	Process	Brain development	NAS	14609955
GO:0007492	Process	Endoderm development	IEA
GO:0008094	Function	ATP-dependent activity, acting on DNA	IDA	14609955
GO:0008270	Function	Zinc ion binding	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0016589	Component	NURF complex	IBA
GO:0016589	Component	NURF complex	IDA	20850016
GO:0016589	Component	NURF complex	IEA
GO:0016589	Component	NURF complex	IPI	14609955
GO:0030425	Component	Dendrite	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	10403843
GO:0043565	Function	Sequence-specific DNA binding	IMP	10575013
GO:0044297	Component	Cell body	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	14609955
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:1904949	Component	ATPase complex	IDA	14609955
GO:1990090	Process	Cellular response to nerve growth factor stimulus	IEA

MIM	HGNC	e!Ensembl
601819	3581	ENSG00000171634

Q12830

Protein name

Nucleosome-remodeling factor subunit BPTF (Bromodomain and PHD finger-containing transcription factor) (Fetal Alz-50 clone 1 protein) (Fetal Alzheimer antigen)

Protein function

Regulatory subunit of the ATP-dependent NURF-1 and NURF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription,

PDB

2F6J , 2F6N , 2FSA , 2FUI , 2FUU , 2RI7 , 3QZS , 3QZT , 3QZV , 3UV2 , 5H6Y , 5R4G , 5R4H , 5R4I , 5R4J , 5R4K , 5R4L , 5R4M , 5R4N , 5R4O , 6AZE , 6LU5 , 6LU6 , 7DMY , 7DN4 , 7F5D , 7F5E , 7JT4 , 7K6R , 7K6S , 7KDW , 7KDZ , 7LP0 , 7LPK , 7LRK , 7LRO , 7M2E , 7RWN , 7RWO , 7RWP , 7RWQ , 7VD4 , 8AG2 , 8F6G , 8OU2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02791	DDT	241 → 297	DDT domain	Family
PF00628	PHD	392 → 437	PHD-finger	Domain
PF15613	WSD	456 → 524	Williams-Beuren syndrome DDT (WSD), D-TOX E motif	Family
PF00628	PHD	2869 → 2918	PHD-finger	Domain
PF00439	Bromodomain	2936 → 3019	Bromodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in testis. Present in kidney, liver and brain. In the brain, highest levels are found in motor cortex (at protein level). {ECO:0000269|PubMed:10662542, ECO:0000269|PubMed:10727212, ECO:000026

Sequence

MRGRRGRPPKQPAAPAAERCAPAPPPPPPPPTSGPIGGLRSRHRGSSRGRWAAAQAEVAP
KTRLSSPRGGSSSRRKPPPPPPAPPSTSAPGRGGRGGGGGRTGGGGGGGHLARTTAARRA
VNKVVYDDHESEEEEEEEDMVSEEEEEEDGDAEETQDSEDDEEDEMEEDDDDSDYPEEME
DDDDDASYCTESSFRSHSTYSSTPGRRKPRVHRPRSPILEEKDIPPLEFPKSSEDLMVPN
EHIMNVIAIYEVLRNFGTVLRLSPFRFEDFCAALVSQEQCTLMAEMHVVLLKAVLREEDT
SNTTFGPADLKDSVNSTLYFIDGMTWPEVLRVYCESDKEYHHVLPYQEAEDYPYGPVENK
IKVLQFLVDQFLTTNIAREELMSEGVIQYDDHCRVCHKLGDLLCCETCSAVYHLECVKPP
LEEVPEDEWQCEVCVAHKVPGVTDCVAEIQKNKPYIRHEPIGYDRSRRKYWFLNRRLIIE
EDTENENEKKIWYYSTKVQLAELIDCLDKDYWEAELCKILEEMREEIHRHMDITEDLTNK
ARGSNKSFLAAANEEILESIRAKKGDIDNVKSPEETEKDKNETENDSKDAEKNREEFEDQ
SLEKDSDDKTPDDDPEQGKSEEPTEVGDKGNSVSANLGDNTTNATSEETSPSEGRSPVGC
LSETPDSSNMAEKKVASELPQDVPEEPNKTCESSNTSATTTSIQPNLENSNSSSELNSSQ
SESAKAADDPENGERESHTPVSIQEEIVGDFKSEKSNGELSESPGAGKGASGSTRIITRL
RNPDSKLSQLKSQQVAAAAHEANKLFKEGKEVLVVNSQGEISRLSTKKEVIMKGNINNYF
KLGQEGKYRVYHNQYSTNSFALNKHQHREDHDKRRHLAHKFCLTPAGEFKWNGSVHGSKV
LTISTLRLTITQLENNIPSSFLHPNWASHRANWIKAVQMCSKPREFALALAILECAVKPV
VMLPIWRESLGHTRLHRMTSIEREEKEKVKKKEKKQEEEETMQQATWVKYTFPVKHQVWK
QKGEEYRVTGYGGWSWISKTHVYRFVPKLPGNTNVNYRKSLEGTKNNMDENMDESDKRKC
SRSPKKIKIEPDSEKDEVKGSDAAKGADQNEMDISKITEKKDQDVKELLDSDSDKPCKEE
PMEVDDDMKTESHVNCQESSQVDVVNVSEGFHLRTSYKKKTKSSKLDGLLERRIKQFTLE
EKQRLEKIKLEGGIKGIGKTSTNSSKNLSESPVITKAKEGCQSDSMRQEQSPNANNDQPE
DLIQGCSESDSSVLRMSDPSHTTNKLYPKDRVLDDVSIRSPETKCPKQNSIENDIEEKVS
DLASRGQEPSKSKTKGNDFFIDDSKLASADDIGTLICKNKKPLIQEESDTIVSSSKSALH
SSVPKSTNDRDATPLSRAMDFEGKLGCDSESNSTLENSSDTVSIQDSSEEDMIVQNSNES
ISEQFRTREQDVEVLEPLKCELVSGESTGNCEDRLPVKGTEANGKKPSQQKKLEERPVNK
CSDQIKLKNTTDKKNNENRESEKKGQRTSTFQINGKDNKPKIYLKGECLKEISESRVVSG
NVEPKVNNINKIIPENDIKSLTVKESAIRPFINGDVIMEDFNERNSSETKSHLLSSSDAE
GNYRDSLETLPSTKESDSTQTTTPSASCPESNSVNQVEDMEIETSEVKKVTSSPITSEEE
SNLSNDFIDENGLPINKNENVNGESKRKTVITEVTTMTSTVATESKTVIKVEKGDKQTVV
SSTENCAKSTVTTTTTTVTKLSTPSTGGSVDIISVKEQSKTVVTTTVTDSLTTTGGTLVT
SMTVSKEYSTRDKVKLMKFSRPKKTRSGTALPSYRKFVTKSSKKSIFVLPNDDLKKLARK
GGIREVPYFNYNAKPALDIWPYPSPRPTFGITWRYRLQTVKSLAGVSLMLRLLWASLRWD
DMAAKAPPGGGTTRTETSETEITTTEIIKRRDVGPYGIRSEYCIRKIICPIGVPETPKET
PTPQRKGLRSSALRPKRPETPKQTGPVIIETWVAEEELELWEIRAFAERVEKEKAQAVEQ
QAKKRLEQQKPTVIATSTTSPTSSTTSTISPAQKVMVAPISGSVTTGTKMVLTTKVGSPA
TVTFQQNKNFHQTFATWVKQGQSNSGVVQVQQKVLGIIPSSTGTSQQTFTSFQPRTATVT
IRPNTSGSGGTTSNSQVITGPQIRPGMTVIRTPLQQSTLGKAIIRTPVMVQPGAPQQVMT
QIIRGQPVSTAVSAPNTVSSTPGQKSLTSATSTSNIQSSASQPPRPQQGQVKLTMAQLTQ
LTQGHGGNQGLTVVIQGQGQTTGQLQLIPQGVTVLPGPGQQLMQAAMPNGTVQRFLFTPL
ATTATTASTTTTTVSTTAAGTGEQRQSKLSPQMQVHQDKTLPPAQSSSVGPAEAQPQTAQ
PSAQPQPQTQPQSPAQPEVQTQPEVQTQTTVSSHVPSEAQPTHAQSSKPQVAAQSQPQSN
VQGQSPVRVQSPSQTRIRPSTPSQLSPGQQSQVQTTTSQPIPIQPHTSLQIPSQGQPQSQ
PQVQSSTQTLSSGQTLNQVTVSSPSRPQLQIQQPQPQVIAVPQLQQQVQVLSQIQSQVVA
QIQAQQSGVPQQIKLQLPIQIQQSSAVQTHQIQNVVTVQAASVQEQLQRVQQLRDQQQKK
KQQQIEIKREHTLQASNQSEIIQKQVVMKHNAVIEHLKQKKSMTPAEREENQRMIVCNQV
MKYILDKIDKEEKQAAKKRKREESVEQKRSKQNATKLSALLFKHKEQLRAEILKKRALLD
KDLQIEVQEELKRDLKIKKEKDLMQLAQATAVAAPCPPVTPAPPAPPAPPPSPPPPPAVQ
HTGLLSTPTLPAASQKRKREEEKDSSSKSKKKKMISTTSKETKKDTKLYCICKTPYDESK
FYIGCDRCQNWYHGRCVGILQSEAELIDEYVCPQCQSTEDAMTVLTPLTEKDYEGLKRVL
RSLQAHKMAWPFLEPVDPNDAPDYYGVIKEPMDLATMEERVQRRYYEKLTEFVADMTKIF
DNCRYYNPSDSPFYQCAEVLESFFVQKLKGFKASRSHNNKLQSTAS

Sequence length

3046

Interactions

View interactions

	KEGG
	ATP-dependent chromatin remodeling

210

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Expressive language delay	Pathogenic; Likely pathogenic	rs1135401778, rs1555639076, rs1555639411, rs1555649483, rs1555652383, rs1425998598, rs782736894, rs1555693714	RCV000577907 RCV000577876 RCV000577919 RCV000577909 RCV000577888 RCV000577877 RCV000577896 RCV000577911
Global developmental delay	Pathogenic; Likely pathogenic	rs1135401778, rs1555639076, rs1555639411, rs1555649483, rs1555652383, rs1425998598, rs782736894, rs1555693714	RCV000577907 RCV000577876 RCV000577919 RCV000577909 RCV000577888 RCV000577877 RCV000577896 RCV000577911
Intellectual disability	Pathogenic	rs1135401778	RCV000496129
Neurodevelopmental delay	Likely pathogenic	rs2147954548	RCV002274319
Neurodevelopmental disorder	Likely pathogenic	rs2512645913	RCV003389183
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Likely pathogenic; Pathogenic	rs753210939, rs2069336193, rs2147247193, rs2146269629, rs2148293838, rs2147907396, rs2144998926, rs2147246788, rs2144999012, rs1259365489, rs2511711803, rs2513705006, rs2512646880, rs2511450754, rs1135401778 View all (8 more)	RCV001329897 RCV001333252 RCV001527610 RCV001771797 RCV001771823 RCV001802369 RCV001809299 RCV001837173 RCV001837174 RCV002260902 RCV002287614 RCV003992647 RCV003993699 RCV004595143 RCV000515336 RCV000515231 RCV000515333 RCV000515238 RCV000515433 RCV000850179 RCV001028091 RCV001254180 RCV004799479
Secondary microcephaly	Pathogenic; Likely pathogenic	rs1135401778, rs1555639076, rs1555639411, rs1555649483, rs1555652383, rs1425998598, rs782736894, rs1555693714	RCV000577907 RCV000577876 RCV000577919 RCV000577909 RCV000577888 RCV000577877 RCV000577896 RCV000577911
See cases	Pathogenic	rs2513703489	RCV003985703

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs202146930	RCV005928784
BPTF-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs868242186, rs1055192173, rs554343942, rs142960950, rs148696633, rs190883344, rs782326693, rs906413939, rs751039972, rs762904421, rs35711041, rs73351760, rs142703799, rs782130471, rs140942173 View all (40 more)	RCV003948687 RCV003926326 RCV003926398 RCV003943752 RCV003946270 RCV003946312 RCV003946343 RCV003926440 RCV003943489 RCV003936302 RCV003926439 RCV003916523 RCV003943490 RCV003903810 RCV003906307 RCV003903798 RCV003936348 RCV003926496 RCV003961294 RCV003926614 RCV003943687 RCV003900883 RCV003946383 RCV003946462 RCV003419207 RCV003419212 RCV003402323 RCV003418991 RCV003397272 RCV003408344 RCV003408764 RCV003420917 RCV003394337 RCV004741498 RCV003980900 RCV003981051 RCV003909205 RCV003896591 RCV003899027 RCV003894618 RCV003982709 RCV003896384 RCV003944200 RCV003981210 RCV003936998 RCV003924207 RCV003946763 RCV003954488 RCV003957379 RCV003959398 RCV003967017 RCV003976414 RCV003916086 RCV003935959 RCV003940474 RCV003942867
BPTF-related neurodevelopmental disorder	Uncertain significance	rs1168961811	RCV001270802
Cervical cancer	Benign	rs202146930	RCV005928785
Clear cell carcinoma of kidney	Benign	rs112921129	RCV005910076
Familial cancer of breast	Likely benign	rs370076082	RCV005937396
Gastric cancer	Benign	rs181364379	RCV005928418
Kaposi sarcoma	Conflicting classifications of pathogenicity	rs187498805	RCV003883206
Kaposi sarcoma, susceptibility to	Conflicting classifications of pathogenicity	rs187498805	RCV004587403
Malignant tumor of esophagus	Benign; Likely benign	rs79076582	RCV005904724
Malignant tumor of urinary bladder	Benign; Likely benign	rs141710319	RCV005928634
Microcephaly	Uncertain significance	rs754522302	RCV001252874
Neurodevelopmental abnormality	Likely benign	rs2062639532	RCV001264678
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs79076582	RCV005904726
Sarcoma	Benign; Likely benign	rs79076582	RCV005904725
Syndromic intellectual disability	Conflicting classifications of pathogenicity	rs765770406, rs369457219	RCV005363009 RCV005356342
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs1555685499	RCV005898563

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	27501781, 28025329, 36529788
Arthritis Rheumatoid	Associate	34079550
Autistic Disorder	Associate	30755392
Brain Diseases	Associate	33522091
Breast Neoplasms	Associate	24884718, 31278301
Carcinoma Adenoid Cystic	Associate	28820917
Carcinoma Non Small Cell Lung	Associate	36529788
Carcinoma Renal Cell	Associate	33232269, 36367018
Colorectal Neoplasms	Associate	35342352
Developmental Disabilities	Associate	30755392
Diabetes Mellitus	Associate	36978091
Diabetic Nephropathies	Associate	36978091
Esophageal Squamous Cell Carcinoma	Associate	34586744
Glioma	Associate	30542695
Glycosuria Renal	Associate	36978091
Hypoxia	Stimulate	36514216
Hypoxia Brain	Stimulate	36514216
Immune System Diseases	Associate	30755392
Leukemia	Associate	37987160
Leukemia Myeloid Acute	Associate	37987160
Lupus Erythematosus Systemic	Associate	34079550
Lymphatic Metastasis	Stimulate	28121349
Melanoma	Associate	27185926
Microcephaly	Associate	30214071
Neoplasm Metastasis	Associate	31278301
Neoplasms	Associate	24121791, 30755392, 31278301
Neoplasms	Stimulate	30542695
Pancreatic Neoplasms	Associate	36068586
Pulmonary Disease Chronic Obstructive	Associate	36514216
Rectal Neoplasms	Associate	24040155
Scoliosis	Associate	33522091
Seizures	Associate	33522091
Stomach Neoplasms	Associate	35421923, 37863665
Vascular Remodeling	Associate	36514216

BPTF (bromodomain PHD finger transcription factor)