RFX1 (regulatory factor X1)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Diseases linked via similar genes

Gene

• Entrez ID: 5989
• Gene name: Regulatory factor X1
• Gene symbol: RFX1
• Synonyms (NCBI Gene): EFC, RFX
• Chromosome: 19
• Chromosome location: 19p13.12
• Summary: This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an N-terminal activation domain and a C-terminal repressio

miRNA Show/Hide all (332)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004209	hsa-miR-197-3p	Microarray	16822819
MIRT004241	hsa-miR-346	Microarray	16822819
MIRT022998	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT641583	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT641582	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT641581	hsa-miR-10b-3p	HITS-CLIP	23824327
MIRT641580	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT641578	hsa-miR-6801-5p	HITS-CLIP	23824327
MIRT641579	hsa-miR-5590-5p	HITS-CLIP	23824327
MIRT641577	hsa-miR-4659a-5p	HITS-CLIP	23824327
MIRT641576	hsa-miR-4659b-5p	HITS-CLIP	23824327
MIRT641575	hsa-miR-587	HITS-CLIP	23824327
MIRT641574	hsa-miR-578	HITS-CLIP	23824327
MIRT641573	hsa-miR-4776-3p	HITS-CLIP	23824327
MIRT566034	hsa-miR-548ac	PAR-CLIP	20371350
MIRT566033	hsa-miR-548bb-3p	PAR-CLIP	20371350
MIRT566032	hsa-miR-548d-3p	PAR-CLIP	20371350
MIRT566031	hsa-miR-548h-3p	PAR-CLIP	20371350
MIRT566030	hsa-miR-548z	PAR-CLIP	20371350
MIRT566029	hsa-miR-548as-3p	PAR-CLIP	20371350
MIRT566028	hsa-miR-4753-5p	PAR-CLIP	20371350
MIRT566027	hsa-miR-15a-3p	PAR-CLIP	20371350
MIRT566026	hsa-miR-758-5p	PAR-CLIP	20371350
MIRT566025	hsa-miR-8069	PAR-CLIP	20371350
MIRT566023	hsa-miR-3148	PAR-CLIP	20371350
MIRT566024	hsa-miR-6124	PAR-CLIP	20371350
MIRT566022	hsa-miR-92a-1-5p	PAR-CLIP	20371350
MIRT566021	hsa-miR-3978	PAR-CLIP	20371350
MIRT641583	hsa-miR-370-5p	HITS-CLIP	23824327
MIRT641582	hsa-miR-6826-5p	HITS-CLIP	23824327
MIRT641581	hsa-miR-10b-3p	HITS-CLIP	23824327
MIRT641580	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT641578	hsa-miR-6801-5p	HITS-CLIP	23824327
MIRT641579	hsa-miR-5590-5p	HITS-CLIP	23824327
MIRT641577	hsa-miR-4659a-5p	HITS-CLIP	23824327
MIRT641576	hsa-miR-4659b-5p	HITS-CLIP	23824327
MIRT641575	hsa-miR-587	HITS-CLIP	23824327
MIRT641574	hsa-miR-578	HITS-CLIP	23824327
MIRT641573	hsa-miR-4776-3p	HITS-CLIP	23824327
MIRT566034	hsa-miR-548ac	PAR-CLIP	20371350
MIRT566033	hsa-miR-548bb-3p	PAR-CLIP	20371350
MIRT566032	hsa-miR-548d-3p	PAR-CLIP	20371350
MIRT566031	hsa-miR-548h-3p	PAR-CLIP	20371350
MIRT566030	hsa-miR-548z	PAR-CLIP	20371350
MIRT566029	hsa-miR-548as-3p	PAR-CLIP	20371350
MIRT566028	hsa-miR-4753-5p	PAR-CLIP	20371350
MIRT566027	hsa-miR-15a-3p	PAR-CLIP	20371350
MIRT566026	hsa-miR-758-5p	PAR-CLIP	20371350
MIRT566025	hsa-miR-8069	PAR-CLIP	20371350
MIRT566023	hsa-miR-3148	PAR-CLIP	20371350
MIRT566024	hsa-miR-6124	PAR-CLIP	20371350
MIRT566022	hsa-miR-92a-1-5p	PAR-CLIP	20371350
MIRT566021	hsa-miR-3978	PAR-CLIP	20371350
MIRT1302286	hsa-miR-1207-5p	CLIP-seq
MIRT1302287	hsa-miR-1245	CLIP-seq
MIRT1302288	hsa-miR-125a-3p	CLIP-seq
MIRT1302289	hsa-miR-1273c	CLIP-seq
MIRT1302290	hsa-miR-1285	CLIP-seq
MIRT1302291	hsa-miR-1289	CLIP-seq
MIRT1302292	hsa-miR-141	CLIP-seq
MIRT1302293	hsa-miR-1908	CLIP-seq
MIRT1302294	hsa-miR-1913	CLIP-seq
MIRT1302295	hsa-miR-200a	CLIP-seq
MIRT1302296	hsa-miR-2355-5p	CLIP-seq
MIRT1302297	hsa-miR-25	CLIP-seq
MIRT1302298	hsa-miR-2861	CLIP-seq
MIRT1302299	hsa-miR-302f	CLIP-seq
MIRT1302300	hsa-miR-3141	CLIP-seq
MIRT1302301	hsa-miR-3150a-3p	CLIP-seq
MIRT1302302	hsa-miR-3154	CLIP-seq
MIRT1302303	hsa-miR-3170	CLIP-seq
MIRT1302304	hsa-miR-3175	CLIP-seq
MIRT1302305	hsa-miR-3179	CLIP-seq
MIRT1302306	hsa-miR-3186-3p	CLIP-seq
MIRT1302307	hsa-miR-3187-5p	CLIP-seq
MIRT1302308	hsa-miR-3199	CLIP-seq
MIRT1302309	hsa-miR-32	CLIP-seq
MIRT1302310	hsa-miR-324-3p	CLIP-seq
MIRT1302311	hsa-miR-342-3p	CLIP-seq
MIRT1302312	hsa-miR-363	CLIP-seq
MIRT1302313	hsa-miR-3657	CLIP-seq
MIRT1302314	hsa-miR-3660	CLIP-seq
MIRT1302315	hsa-miR-367	CLIP-seq
MIRT1302316	hsa-miR-3683	CLIP-seq
MIRT1302317	hsa-miR-374c	CLIP-seq
MIRT1302318	hsa-miR-3918	CLIP-seq
MIRT1302319	hsa-miR-3929	CLIP-seq
MIRT1302320	hsa-miR-3960	CLIP-seq
MIRT1302321	hsa-miR-4251	CLIP-seq
MIRT1302322	hsa-miR-4271	CLIP-seq
MIRT1302323	hsa-miR-4325	CLIP-seq
MIRT1302324	hsa-miR-4419b	CLIP-seq
MIRT1302325	hsa-miR-4438	CLIP-seq
MIRT1302326	hsa-miR-4449	CLIP-seq
MIRT1302327	hsa-miR-4478	CLIP-seq
MIRT1302328	hsa-miR-4488	CLIP-seq
MIRT1302329	hsa-miR-4508	CLIP-seq
MIRT1302330	hsa-miR-4515	CLIP-seq
MIRT1302331	hsa-miR-4519	CLIP-seq
MIRT1302332	hsa-miR-4526	CLIP-seq
MIRT1302333	hsa-miR-4532	CLIP-seq
MIRT1302334	hsa-miR-4632	CLIP-seq
MIRT1302335	hsa-miR-4645-3p	CLIP-seq
MIRT1302336	hsa-miR-4652-5p	CLIP-seq
MIRT1302337	hsa-miR-4697-5p	CLIP-seq
MIRT1302338	hsa-miR-4725-3p	CLIP-seq
MIRT1302339	hsa-miR-4726-3p	CLIP-seq
MIRT1302340	hsa-miR-4728-5p	CLIP-seq
MIRT1302341	hsa-miR-4731-5p	CLIP-seq
MIRT1302342	hsa-miR-4763-3p	CLIP-seq
MIRT1302343	hsa-miR-4763-5p	CLIP-seq
MIRT1302344	hsa-miR-491-5p	CLIP-seq
MIRT1302345	hsa-miR-513a-5p	CLIP-seq
MIRT1302346	hsa-miR-520d-5p	CLIP-seq
MIRT1302347	hsa-miR-524-5p	CLIP-seq
MIRT1302348	hsa-miR-539	CLIP-seq
MIRT1302349	hsa-miR-548a-3p	CLIP-seq
MIRT1302350	hsa-miR-548e	CLIP-seq
MIRT1302351	hsa-miR-548f	CLIP-seq
MIRT1302352	hsa-miR-570	CLIP-seq
MIRT1302353	hsa-miR-612	CLIP-seq
MIRT1302354	hsa-miR-637	CLIP-seq
MIRT1302355	hsa-miR-655	CLIP-seq
MIRT1302356	hsa-miR-658	CLIP-seq
MIRT1302357	hsa-miR-663	CLIP-seq
MIRT1302358	hsa-miR-885-5p	CLIP-seq
MIRT1302359	hsa-miR-92a	CLIP-seq
MIRT1302360	hsa-miR-92b	CLIP-seq
MIRT1302361	hsa-miR-939	CLIP-seq
MIRT1302343	hsa-miR-4763-5p	CLIP-seq
MIRT1302286	hsa-miR-1207-5p	CLIP-seq
MIRT2089736	hsa-miR-1225-3p	CLIP-seq
MIRT2089737	hsa-miR-1266	CLIP-seq
MIRT1302290	hsa-miR-1285	CLIP-seq
MIRT2089738	hsa-miR-140-3p	CLIP-seq
MIRT2089739	hsa-miR-1538	CLIP-seq
MIRT1302293	hsa-miR-1908	CLIP-seq
MIRT2089740	hsa-miR-197	CLIP-seq
MIRT2089741	hsa-miR-24	CLIP-seq
MIRT1302297	hsa-miR-25	CLIP-seq
MIRT2089742	hsa-miR-296-5p	CLIP-seq
MIRT1302299	hsa-miR-302f	CLIP-seq
MIRT2089743	hsa-miR-3127-5p	CLIP-seq
MIRT2089744	hsa-miR-3138	CLIP-seq
MIRT2089745	hsa-miR-3150b-3p	CLIP-seq
MIRT2089746	hsa-miR-3177-3p	CLIP-seq
MIRT1302306	hsa-miR-3186-3p	CLIP-seq
MIRT1302307	hsa-miR-3187-5p	CLIP-seq
MIRT1302308	hsa-miR-3199	CLIP-seq
MIRT1302309	hsa-miR-32	CLIP-seq
MIRT2089747	hsa-miR-342-5p	CLIP-seq
MIRT1302312	hsa-miR-363	CLIP-seq
MIRT2089748	hsa-miR-3653	CLIP-seq
MIRT2089749	hsa-miR-3658	CLIP-seq
MIRT1302315	hsa-miR-367	CLIP-seq
MIRT1302317	hsa-miR-374c	CLIP-seq
MIRT2089750	hsa-miR-3911	CLIP-seq
MIRT1302318	hsa-miR-3918	CLIP-seq
MIRT2089751	hsa-miR-3927	CLIP-seq
MIRT2089752	hsa-miR-4283	CLIP-seq
MIRT2089753	hsa-miR-4313	CLIP-seq
MIRT1302323	hsa-miR-4325	CLIP-seq
MIRT2089754	hsa-miR-4419a	CLIP-seq
MIRT2089755	hsa-miR-4434	CLIP-seq
MIRT2089756	hsa-miR-4437	CLIP-seq
MIRT2089757	hsa-miR-4446-3p	CLIP-seq
MIRT2089758	hsa-miR-4467	CLIP-seq
MIRT1302328	hsa-miR-4488	CLIP-seq
MIRT2089759	hsa-miR-4492	CLIP-seq
MIRT2089760	hsa-miR-4497	CLIP-seq
MIRT2089761	hsa-miR-4498	CLIP-seq
MIRT2089762	hsa-miR-4505	CLIP-seq
MIRT1302329	hsa-miR-4508	CLIP-seq
MIRT2089763	hsa-miR-4510	CLIP-seq
MIRT1302330	hsa-miR-4515	CLIP-seq
MIRT2089764	hsa-miR-4516	CLIP-seq
MIRT2089765	hsa-miR-4518	CLIP-seq
MIRT1302333	hsa-miR-4532	CLIP-seq
MIRT1302334	hsa-miR-4632	CLIP-seq
MIRT2089766	hsa-miR-4650-3p	CLIP-seq
MIRT2089767	hsa-miR-4651	CLIP-seq
MIRT1302336	hsa-miR-4652-5p	CLIP-seq
MIRT2089768	hsa-miR-4662a-3p	CLIP-seq
MIRT2089769	hsa-miR-4664-5p	CLIP-seq
MIRT2089770	hsa-miR-4688	CLIP-seq
MIRT1302337	hsa-miR-4697-5p	CLIP-seq
MIRT2089771	hsa-miR-4704-5p	CLIP-seq
MIRT1302340	hsa-miR-4728-5p	CLIP-seq
MIRT1302341	hsa-miR-4731-5p	CLIP-seq
MIRT2089772	hsa-miR-4745-3p	CLIP-seq
MIRT2089773	hsa-miR-4750	CLIP-seq
MIRT1302342	hsa-miR-4763-3p	CLIP-seq
MIRT1302343	hsa-miR-4763-5p	CLIP-seq
MIRT2089774	hsa-miR-4784	CLIP-seq
MIRT2089775	hsa-miR-4800-5p	CLIP-seq
MIRT2089776	hsa-miR-5096	CLIP-seq
MIRT1302346	hsa-miR-520d-5p	CLIP-seq
MIRT1302347	hsa-miR-524-5p	CLIP-seq
MIRT2089777	hsa-miR-548u	CLIP-seq
MIRT2089778	hsa-miR-564	CLIP-seq
MIRT1302352	hsa-miR-570	CLIP-seq
MIRT2089779	hsa-miR-572	CLIP-seq
MIRT2089780	hsa-miR-608	CLIP-seq
MIRT1302353	hsa-miR-612	CLIP-seq
MIRT1302355	hsa-miR-655	CLIP-seq
MIRT1302357	hsa-miR-663	CLIP-seq
MIRT2089781	hsa-miR-762	CLIP-seq
MIRT2089782	hsa-miR-765	CLIP-seq
MIRT1302358	hsa-miR-885-5p	CLIP-seq
MIRT1302359	hsa-miR-92a	CLIP-seq
MIRT1302360	hsa-miR-92b	CLIP-seq
MIRT1302286	hsa-miR-1207-5p	CLIP-seq
MIRT2089736	hsa-miR-1225-3p	CLIP-seq
MIRT1302287	hsa-miR-1245	CLIP-seq
MIRT1302290	hsa-miR-1285	CLIP-seq
MIRT2314645	hsa-miR-1301	CLIP-seq
MIRT2089738	hsa-miR-140-3p	CLIP-seq
MIRT1302292	hsa-miR-141	CLIP-seq
MIRT1302293	hsa-miR-1908	CLIP-seq
MIRT2089740	hsa-miR-197	CLIP-seq
MIRT2314646	hsa-miR-19a	CLIP-seq
MIRT2314647	hsa-miR-19b	CLIP-seq
MIRT1302295	hsa-miR-200a	CLIP-seq
MIRT2314648	hsa-miR-2113	CLIP-seq
MIRT2314649	hsa-miR-219-5p	CLIP-seq
MIRT1302297	hsa-miR-25	CLIP-seq
MIRT1302298	hsa-miR-2861	CLIP-seq
MIRT2314650	hsa-miR-300	CLIP-seq
MIRT1302299	hsa-miR-302f	CLIP-seq
MIRT2089744	hsa-miR-3138	CLIP-seq
MIRT1302300	hsa-miR-3141	CLIP-seq
MIRT2089745	hsa-miR-3150b-3p	CLIP-seq
MIRT2314651	hsa-miR-3160-3p	CLIP-seq
MIRT2089746	hsa-miR-3177-3p	CLIP-seq
MIRT1302306	hsa-miR-3186-3p	CLIP-seq
MIRT1302307	hsa-miR-3187-5p	CLIP-seq
MIRT2314652	hsa-miR-3189-5p	CLIP-seq
MIRT1302308	hsa-miR-3199	CLIP-seq
MIRT1302309	hsa-miR-32	CLIP-seq
MIRT2314653	hsa-miR-338-5p	CLIP-seq
MIRT2089747	hsa-miR-342-5p	CLIP-seq
MIRT1302312	hsa-miR-363	CLIP-seq
MIRT1302314	hsa-miR-3660	CLIP-seq
MIRT1302315	hsa-miR-367	CLIP-seq
MIRT2314654	hsa-miR-381	CLIP-seq
MIRT2089750	hsa-miR-3911	CLIP-seq
MIRT1302318	hsa-miR-3918	CLIP-seq
MIRT2089751	hsa-miR-3927	CLIP-seq
MIRT1302319	hsa-miR-3929	CLIP-seq
MIRT1302320	hsa-miR-3960	CLIP-seq
MIRT1302321	hsa-miR-4251	CLIP-seq
MIRT1302323	hsa-miR-4325	CLIP-seq
MIRT2089754	hsa-miR-4419a	CLIP-seq
MIRT1302324	hsa-miR-4419b	CLIP-seq
MIRT2314655	hsa-miR-4427	CLIP-seq
MIRT2089755	hsa-miR-4434	CLIP-seq
MIRT2314656	hsa-miR-4436a	CLIP-seq
MIRT1302325	hsa-miR-4438	CLIP-seq
MIRT2314657	hsa-miR-4445	CLIP-seq
MIRT2314658	hsa-miR-4447	CLIP-seq
MIRT2089758	hsa-miR-4467	CLIP-seq
MIRT2314659	hsa-miR-4472	CLIP-seq
MIRT1302327	hsa-miR-4478	CLIP-seq
MIRT1302328	hsa-miR-4488	CLIP-seq
MIRT2089759	hsa-miR-4492	CLIP-seq
MIRT2089760	hsa-miR-4497	CLIP-seq
MIRT2089761	hsa-miR-4498	CLIP-seq
MIRT2089762	hsa-miR-4505	CLIP-seq
MIRT2089763	hsa-miR-4510	CLIP-seq
MIRT1302330	hsa-miR-4515	CLIP-seq
MIRT2089764	hsa-miR-4516	CLIP-seq
MIRT1302332	hsa-miR-4526	CLIP-seq
MIRT1302335	hsa-miR-4645-3p	CLIP-seq
MIRT2089766	hsa-miR-4650-3p	CLIP-seq
MIRT2089767	hsa-miR-4651	CLIP-seq
MIRT1302336	hsa-miR-4652-5p	CLIP-seq
MIRT2314660	hsa-miR-4660	CLIP-seq
MIRT2089768	hsa-miR-4662a-3p	CLIP-seq
MIRT2089769	hsa-miR-4664-5p	CLIP-seq
MIRT2314661	hsa-miR-4666-3p	CLIP-seq
MIRT2314662	hsa-miR-4690-3p	CLIP-seq
MIRT1302337	hsa-miR-4697-5p	CLIP-seq
MIRT2089771	hsa-miR-4704-5p	CLIP-seq
MIRT1302340	hsa-miR-4728-5p	CLIP-seq
MIRT2089773	hsa-miR-4750	CLIP-seq
MIRT1302342	hsa-miR-4763-3p	CLIP-seq
MIRT1302343	hsa-miR-4763-5p	CLIP-seq
MIRT2314663	hsa-miR-4782-3p	CLIP-seq
MIRT2089774	hsa-miR-4784	CLIP-seq
MIRT2314664	hsa-miR-4789-5p	CLIP-seq
MIRT2089775	hsa-miR-4800-5p	CLIP-seq
MIRT2314665	hsa-miR-5047	CLIP-seq
MIRT2314666	hsa-miR-508-3p	CLIP-seq
MIRT2089776	hsa-miR-5096	CLIP-seq
MIRT2314667	hsa-miR-518a-5p	CLIP-seq
MIRT1302346	hsa-miR-520d-5p	CLIP-seq
MIRT1302347	hsa-miR-524-5p	CLIP-seq
MIRT2314668	hsa-miR-527	CLIP-seq
MIRT1302348	hsa-miR-539	CLIP-seq
MIRT1302349	hsa-miR-548a-3p	CLIP-seq
MIRT1302350	hsa-miR-548e	CLIP-seq
MIRT1302351	hsa-miR-548f	CLIP-seq
MIRT2089778	hsa-miR-564	CLIP-seq
MIRT1302352	hsa-miR-570	CLIP-seq
MIRT2089779	hsa-miR-572	CLIP-seq
MIRT2314669	hsa-miR-592	CLIP-seq
MIRT2314670	hsa-miR-597	CLIP-seq
MIRT2314671	hsa-miR-599	CLIP-seq
MIRT2089780	hsa-miR-608	CLIP-seq
MIRT1302353	hsa-miR-612	CLIP-seq
MIRT2314672	hsa-miR-628-5p	CLIP-seq
MIRT1302356	hsa-miR-658	CLIP-seq
MIRT1302357	hsa-miR-663	CLIP-seq
MIRT2314673	hsa-miR-759	CLIP-seq
MIRT2089781	hsa-miR-762	CLIP-seq
MIRT2089782	hsa-miR-765	CLIP-seq
MIRT1302358	hsa-miR-885-5p	CLIP-seq
MIRT1302359	hsa-miR-92a	CLIP-seq
MIRT1302360	hsa-miR-92b	CLIP-seq
MIRT2089736	hsa-miR-1225-3p	CLIP-seq
MIRT2089740	hsa-miR-197	CLIP-seq
MIRT2089742	hsa-miR-296-5p	CLIP-seq
MIRT2089745	hsa-miR-3150b-3p	CLIP-seq
MIRT2089746	hsa-miR-3177-3p	CLIP-seq
MIRT2089754	hsa-miR-4419a	CLIP-seq
MIRT2089755	hsa-miR-4434	CLIP-seq
MIRT2089763	hsa-miR-4510	CLIP-seq
MIRT2089764	hsa-miR-4516	CLIP-seq
MIRT2089774	hsa-miR-4784	CLIP-seq
MIRT2089776	hsa-miR-5096	CLIP-seq
MIRT2089778	hsa-miR-564	CLIP-seq
MIRT2089782	hsa-miR-765	CLIP-seq

Gene ontology (GO) Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	TAS	8289803
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	16289097, 25609649, 28514442, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006955	Process	Immune response	TAS	1505960
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 600006
• HGNC: 9982
• e!Ensembl: ENSG00000132005

Protein

• UniProt ID: P22670
• Protein name: MHC class II regulatory factor RFX1 (Enhancer factor C) (EF-C) (Regulatory factor X 1) (RFX) (Transcription factor RFX1)
• Protein function: Regulatory factor essential for MHC class II genes expression. Binds to the X boxes of MHC class II genes. Also binds to an inverted repeat (ENH1) required for hepatitis B virus genes expression and to the most upstream element (alpha) of the RP
• PDB: 1DP7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02257	RFX_DNA_binding	435 → 513	RFX DNA-binding domain	Domain
  PF04589	RFX1_trans_act	215 → 375	RFX1 transcription activation region	Family
  PF04589	RFX1_trans_act	113 → 173	RFX1 transcription activation region	Family

• Sequence:

  MATQAYTELQAAPPPSQPPQAPPQAQPQPPPPPPPAAPQPPQPPTAAATPQPQYVTELQS
  PQPQAQPPGGQKQYVTELPAVPAPSQPTGAPTPSPAPQQYIVVTVSEGAMRASETVSEAS
  PGSTASQTGVPTQVVQQVQGTQQRLLVQTSVQAKPGHVSPLQLTNIQVPQQALPTQRLVV
  QSAAPGSKGGQVSLTVHGTQQVHSPPEQSPVQANSSSSKTAGAPTGTVPQQLQVHGVQQS
  VPVTQERSVVQATPQAPKPGPVQPLTVQGLQPVHVAQEVQQLQQVPVPHVYSSQVQYVEG
  GDASYTASAIRSSTYSYPETPLYTQTASTSYYEAAGTATQVSTPATSQAVASSGSMPMYV
  SGSQVVASSTSTGAGASNSSGGGGSGGGGGGGGGGGGGGSGSTGGGGSGAGTYVIQGGYM
  LGSASQSYSHTTRASPATVQWLLDNYETAEGVSLPRSTLYCHYLLHCQEQKLEPVNAASF
  GKLIRSVFMGLRTRRLGTRGNSKYHYYGLRIKASSPLLRLMEDQQHMAMRGQPFSQKQRL
  KPIQKMEGMTNGVAVGQQPSTGLSDISAQVQQYQQFLDASRSLPDFTELDLQGKVLPEGV
  GPGDIKAFQVLYREHCEAIVDVMVNLQFTLVETLWKTFWRYNLSQPSEAPPLAVHDEAEK
  RLPKAILVLLSKFEPVLQWTKHCDNVLYQGLVEILIPDVLRPIPSALTQAIRNFAKSLES
  WLTHAMVNIPEEMLRVKVAAAGAFAQTLRRYTSLNHLAQAARAVLQNTAQINQMLSDLNR
  VDFANVQEQASWVCRCEDRVVQRLEQDFKVTLQQQNSLEQWAAWLDGVVSQVLKPYQGSA
  GFPKAAKLFLLKWSFYSSMVIRDLTLRSAASFGSFHLIRLLYDEYMYYLIEHRVAQAKGE
  TPIAVMGEFANLATSLNPLDPDKDEEEEEEEESEDELPQDISLAAGGESPALGPETLEPP
  AKLARTDARGLFVQALPSS

• Sequence length: 979

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Abnormality of neuronal migration	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (59)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	21935353		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	22582395		★☆☆☆☆ Found in Text Mining only
Alstrom Syndrome	Alstrom syndrome	Pubtator	20381594	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31737059		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	21339190	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	29740017	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	21192791	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31737059		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	33658631	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	33658631	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	33658631	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29422534		★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	14520415		★☆☆☆☆ Found in Text Mining only
Bare Lymphocyte Syndrome	Bare Lymphocyte Syndrome	BEFREE	7594590		★☆☆☆☆ Found in Text Mining only
Bare lymphocyte syndrome 2	Bare Lymphocyte Syndrome	BEFREE	7594590, 7935401, 9806639		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	21935353		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21719561, 28599435		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21719561	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	37301270	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21814558	Associate	★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	25979195		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	22582395		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	19671664		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30857550, 31737059		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30857550, 31737059		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	30857550	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30857550, 31737059		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28193859	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Dystrophica	Dystrophic epidermolysis bullosa	Pubtator	29441510	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	29740017	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20189986, 24526308		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20189986, 24526308		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10895975, 15334059, 9230885		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	15334059		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	21339190	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	29740017	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	21814558	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33658631	Associate	★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	19671664		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24952874, 25047655, 25322871, 29764705		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	20223637, 21192791, 23340289		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	21192791	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	20223637, 21192791, 23340289		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	20223637, 21192791, 23340289, 27283392, 29422534		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	20223637, 21192791, 23340289		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21719561, 28599435		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21935353, 22582395, 24526308, 28490596, 29764705		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	22582395	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	22582395		★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	Myoclonic epilepsy with ragged red fibers	Pubtator	29740017	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	11571785		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24903225, 25047655, 25322871, 25395235		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22582395		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	22582395	Associate	★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	19671664		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30298023		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	29740017		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	10072068, 18319249, 7935401	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36045400	Stimulate	★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for RFX1.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to RFX1.