FXR1 (FMR1 autosomal homolog 1)

Gene

• Entrez ID: 8087
• Gene name: FMR1 autosomal homolog 1
• Gene symbol: FXR1
• Synonyms (NCBI Gene): CMYO9A, CMYO9B, CMYP9A, CMYP9B, FXR1P, MYOPMIL, MYORIBF
• Chromosome: 3
• Chromosome location: 3q26.33
• Summary: The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs769011065	AAAA>-,AAA,AAAAA	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1577005361	ACAG>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022502	hsa-miR-124-3p	Proteomics	18668037
MIRT025398	hsa-miR-34a-5p	Proteomics	21566225
MIRT028542	hsa-miR-30a-5p	Proteomics	18668040
MIRT045986	hsa-miR-125b-5p	CLASH	23622248
MIRT045421	hsa-miR-149-5p	CLASH	23622248
MIRT713857	hsa-miR-513b-5p	HITS-CLIP	19536157
MIRT713856	hsa-miR-3192-3p	HITS-CLIP	19536157
MIRT713855	hsa-miR-4762-3p	HITS-CLIP	19536157
MIRT615002	hsa-miR-1264	HITS-CLIP	23313552
MIRT615001	hsa-miR-2681-5p	HITS-CLIP	23313552
MIRT615002	hsa-miR-1264	HITS-CLIP	23824327
MIRT161904	hsa-miR-4699-3p	HITS-CLIP	23824327
MIRT615001	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT615002	hsa-miR-1264	HITS-CLIP	23824327
MIRT615001	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT615002	hsa-miR-1264	HITS-CLIP	23824327
MIRT615001	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT389971	hsa-miR-3662	HITS-CLIP	23824327
MIRT638711	hsa-miR-3646	HITS-CLIP	23824327
MIRT615002	hsa-miR-1264	HITS-CLIP	23824327
MIRT615001	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT615002	hsa-miR-1264	HITS-CLIP	23824327
MIRT615001	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT615002	hsa-miR-1264	HITS-CLIP	23824327
MIRT615001	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT091255	hsa-miR-132-3p	PAR-CLIP	20371350
MIRT091254	hsa-miR-212-3p	PAR-CLIP	20371350
MIRT091262	hsa-miR-4773	PAR-CLIP	20371350
MIRT091258	hsa-miR-3927-3p	PAR-CLIP	20371350
MIRT091265	hsa-miR-6831-5p	PAR-CLIP	20371350
MIRT567483	hsa-miR-4761-5p	PAR-CLIP	20371350
MIRT091266	hsa-miR-6890-3p	PAR-CLIP	20371350
MIRT091261	hsa-miR-4704-3p	PAR-CLIP	20371350
MIRT091259	hsa-miR-4480	PAR-CLIP	20371350
MIRT091260	hsa-miR-4650-3p	PAR-CLIP	20371350
MIRT161895	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT161901	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT306274	hsa-miR-4694-3p	PAR-CLIP	20371350
MIRT161904	hsa-miR-4699-3p	PAR-CLIP	20371350
MIRT161903	hsa-miR-3973	PAR-CLIP	20371350
MIRT161898	hsa-miR-520g-3p	PAR-CLIP	20371350
MIRT161899	hsa-miR-520h	PAR-CLIP	20371350
MIRT562324	hsa-miR-545-3p	PAR-CLIP	20371350
MIRT161909	hsa-miR-6077	PAR-CLIP	20371350
MIRT091255	hsa-miR-132-3p	PAR-CLIP	23446348
MIRT091254	hsa-miR-212-3p	PAR-CLIP	23446348
MIRT091262	hsa-miR-4773	PAR-CLIP	23446348
MIRT091258	hsa-miR-3927-3p	PAR-CLIP	23446348
MIRT091265	hsa-miR-6831-5p	PAR-CLIP	23446348
MIRT091266	hsa-miR-6890-3p	PAR-CLIP	23446348
MIRT091261	hsa-miR-4704-3p	PAR-CLIP	23446348
MIRT091259	hsa-miR-4480	PAR-CLIP	23446348
MIRT091260	hsa-miR-4650-3p	PAR-CLIP	23446348
MIRT495101	hsa-miR-944	PAR-CLIP	23708386
MIRT495100	hsa-miR-6504-3p	PAR-CLIP	23708386
MIRT495099	hsa-miR-337-3p	PAR-CLIP	23708386
MIRT495098	hsa-miR-202-5p	PAR-CLIP	23708386
MIRT495097	hsa-miR-192-3p	PAR-CLIP	23708386
MIRT495096	hsa-miR-4776-3p	PAR-CLIP	23708386
MIRT476667	hsa-miR-194-5p	PAR-CLIP	23592263
MIRT209289	hsa-miR-411-3p	PAR-CLIP	23592263
MIRT209287	hsa-miR-379-3p	PAR-CLIP	23592263
MIRT161851	hsa-miR-448	PAR-CLIP	23592263
MIRT161847	hsa-miR-153-3p	PAR-CLIP	23592263
MIRT161846	hsa-miR-140-5p	PAR-CLIP	23592263
MIRT476666	hsa-miR-548c-3p	PAR-CLIP	23592263
MIRT161848	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT476665	hsa-miR-764	PAR-CLIP	23592263
MIRT476664	hsa-miR-3934-5p	PAR-CLIP	23592263
MIRT161865	hsa-miR-3185	PAR-CLIP	23592263
MIRT161879	hsa-miR-4795-5p	PAR-CLIP	23592263
MIRT476663	hsa-miR-656-5p	PAR-CLIP	23592263
MIRT161880	hsa-miR-1273g-5p	PAR-CLIP	23592263
MIRT091231	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT091232	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT161894	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT161900	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT161893	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT091255	hsa-miR-132-3p	PAR-CLIP	26701625
MIRT091231	hsa-miR-19a-3p	PAR-CLIP	26701625
MIRT091232	hsa-miR-19b-3p	PAR-CLIP	26701625
MIRT091254	hsa-miR-212-3p	PAR-CLIP	26701625
MIRT736268	hsa-miR-301a-3p	PAR-CLIP	26701625
MIRT091258	hsa-miR-3927-3p	PAR-CLIP	26701625
MIRT091259	hsa-miR-4480	PAR-CLIP	26701625
MIRT091260	hsa-miR-4650-3p	PAR-CLIP	26701625
MIRT091261	hsa-miR-4704-3p	PAR-CLIP	26701625
MIRT567483	hsa-miR-4761-5p	PAR-CLIP	26701625
MIRT091262	hsa-miR-4773	PAR-CLIP	26701625
MIRT091265	hsa-miR-6831-5p	PAR-CLIP	26701625
MIRT091266	hsa-miR-6890-3p	PAR-CLIP	26701625
MIRT736268	hsa-miR-301a-3p	Luciferase reporter assay, Western blotting, Northern blotting, Immunoprecipitaion (IP), RNA-seq, qRT-PCR	31940341
MIRT713857	hsa-miR-513b-5p	HITS-CLIP	19536157
MIRT713856	hsa-miR-3192-3p	HITS-CLIP	19536157
MIRT713855	hsa-miR-4762-3p	HITS-CLIP	19536157
MIRT615002	hsa-miR-1264	HITS-CLIP	23313552
MIRT615001	hsa-miR-2681-5p	HITS-CLIP	23313552
MIRT615002	hsa-miR-1264	HITS-CLIP	23824327
MIRT161904	hsa-miR-4699-3p	HITS-CLIP	23824327
MIRT615001	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT615002	hsa-miR-1264	HITS-CLIP	23824327
MIRT615001	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT615002	hsa-miR-1264	HITS-CLIP	23824327
MIRT615001	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT389971	hsa-miR-3662	HITS-CLIP	23824327
MIRT638711	hsa-miR-3646	HITS-CLIP	23824327
MIRT615002	hsa-miR-1264	HITS-CLIP	23824327
MIRT615001	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT615002	hsa-miR-1264	HITS-CLIP	23824327
MIRT615001	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT615002	hsa-miR-1264	HITS-CLIP	23824327
MIRT615001	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT091255	hsa-miR-132-3p	PAR-CLIP	20371350
MIRT091254	hsa-miR-212-3p	PAR-CLIP	20371350
MIRT091262	hsa-miR-4773	PAR-CLIP	20371350
MIRT091258	hsa-miR-3927-3p	PAR-CLIP	20371350
MIRT091265	hsa-miR-6831-5p	PAR-CLIP	20371350
MIRT567483	hsa-miR-4761-5p	PAR-CLIP	20371350
MIRT091266	hsa-miR-6890-3p	PAR-CLIP	20371350
MIRT091261	hsa-miR-4704-3p	PAR-CLIP	20371350
MIRT091259	hsa-miR-4480	PAR-CLIP	20371350
MIRT091260	hsa-miR-4650-3p	PAR-CLIP	20371350
MIRT161895	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT161901	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT306274	hsa-miR-4694-3p	PAR-CLIP	20371350
MIRT161904	hsa-miR-4699-3p	PAR-CLIP	20371350
MIRT161903	hsa-miR-3973	PAR-CLIP	20371350
MIRT161898	hsa-miR-520g-3p	PAR-CLIP	20371350
MIRT161899	hsa-miR-520h	PAR-CLIP	20371350
MIRT562324	hsa-miR-545-3p	PAR-CLIP	20371350
MIRT161909	hsa-miR-6077	PAR-CLIP	20371350
MIRT091255	hsa-miR-132-3p	PAR-CLIP	23446348
MIRT091254	hsa-miR-212-3p	PAR-CLIP	23446348
MIRT091262	hsa-miR-4773	PAR-CLIP	23446348
MIRT091258	hsa-miR-3927-3p	PAR-CLIP	23446348
MIRT091265	hsa-miR-6831-5p	PAR-CLIP	23446348
MIRT091266	hsa-miR-6890-3p	PAR-CLIP	23446348
MIRT091261	hsa-miR-4704-3p	PAR-CLIP	23446348
MIRT091259	hsa-miR-4480	PAR-CLIP	23446348
MIRT091260	hsa-miR-4650-3p	PAR-CLIP	23446348
MIRT495101	hsa-miR-944	PAR-CLIP	23708386
MIRT495100	hsa-miR-6504-3p	PAR-CLIP	23708386
MIRT495099	hsa-miR-337-3p	PAR-CLIP	23708386
MIRT495098	hsa-miR-202-5p	PAR-CLIP	23708386
MIRT495097	hsa-miR-192-3p	PAR-CLIP	23708386
MIRT495096	hsa-miR-4776-3p	PAR-CLIP	23708386
MIRT476667	hsa-miR-194-5p	PAR-CLIP	23592263
MIRT209289	hsa-miR-411-3p	PAR-CLIP	23592263
MIRT209287	hsa-miR-379-3p	PAR-CLIP	23592263
MIRT161851	hsa-miR-448	PAR-CLIP	23592263
MIRT161847	hsa-miR-153-3p	PAR-CLIP	23592263
MIRT161846	hsa-miR-140-5p	PAR-CLIP	23592263
MIRT476666	hsa-miR-548c-3p	PAR-CLIP	23592263
MIRT161848	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT476665	hsa-miR-764	PAR-CLIP	23592263
MIRT476664	hsa-miR-3934-5p	PAR-CLIP	23592263
MIRT161865	hsa-miR-3185	PAR-CLIP	23592263
MIRT161879	hsa-miR-4795-5p	PAR-CLIP	23592263
MIRT476663	hsa-miR-656-5p	PAR-CLIP	23592263
MIRT161880	hsa-miR-1273g-5p	PAR-CLIP	23592263
MIRT1007282	hsa-miR-1184	CLIP-seq
MIRT1007283	hsa-miR-1205	CLIP-seq
MIRT1007284	hsa-miR-1237	CLIP-seq
MIRT1007285	hsa-miR-1238	CLIP-seq
MIRT1007286	hsa-miR-1244	CLIP-seq
MIRT1007287	hsa-miR-1245b-3p	CLIP-seq
MIRT1007288	hsa-miR-1248	CLIP-seq
MIRT1007289	hsa-miR-1271	CLIP-seq
MIRT1007290	hsa-miR-1273g	CLIP-seq
MIRT1007291	hsa-miR-1279	CLIP-seq
MIRT1007292	hsa-miR-129-5p	CLIP-seq
MIRT1007293	hsa-miR-1299	CLIP-seq
MIRT1007294	hsa-miR-1304	CLIP-seq
MIRT1007295	hsa-miR-130a	CLIP-seq
MIRT1007296	hsa-miR-130b	CLIP-seq
MIRT1007297	hsa-miR-145	CLIP-seq
MIRT1007298	hsa-miR-148a	CLIP-seq
MIRT1007299	hsa-miR-148b	CLIP-seq
MIRT1007300	hsa-miR-152	CLIP-seq
MIRT1007301	hsa-miR-153	CLIP-seq
MIRT1007302	hsa-miR-154	CLIP-seq
MIRT1007303	hsa-miR-15a	CLIP-seq
MIRT1007304	hsa-miR-15b	CLIP-seq
MIRT1007305	hsa-miR-16	CLIP-seq
MIRT1007306	hsa-miR-182	CLIP-seq
MIRT1007307	hsa-miR-1825	CLIP-seq
MIRT1007308	hsa-miR-186	CLIP-seq
MIRT1007309	hsa-miR-195	CLIP-seq
MIRT1007310	hsa-miR-199a-3p	CLIP-seq
MIRT1007311	hsa-miR-199a-5p	CLIP-seq
MIRT1007312	hsa-miR-199b-3p	CLIP-seq
MIRT1007313	hsa-miR-199b-5p	CLIP-seq
MIRT1007314	hsa-miR-19a	CLIP-seq
MIRT1007315	hsa-miR-19b	CLIP-seq
MIRT1007316	hsa-miR-23a	CLIP-seq
MIRT1007317	hsa-miR-23b	CLIP-seq
MIRT1007318	hsa-miR-23c	CLIP-seq
MIRT1007319	hsa-miR-25	CLIP-seq
MIRT1007320	hsa-miR-296-3p	CLIP-seq
MIRT1007321	hsa-miR-301a	CLIP-seq
MIRT1007322	hsa-miR-301b	CLIP-seq
MIRT1007323	hsa-miR-30a	CLIP-seq
MIRT1007324	hsa-miR-30b	CLIP-seq
MIRT1007325	hsa-miR-30c	CLIP-seq
MIRT1007326	hsa-miR-30d	CLIP-seq
MIRT1007327	hsa-miR-30e	CLIP-seq
MIRT1007328	hsa-miR-31	CLIP-seq
MIRT1007329	hsa-miR-3120-3p	CLIP-seq
MIRT1007330	hsa-miR-3129-3p	CLIP-seq
MIRT1007331	hsa-miR-3129-5p	CLIP-seq
MIRT1007332	hsa-miR-3133	CLIP-seq
MIRT1007333	hsa-miR-3158-5p	CLIP-seq
MIRT1007334	hsa-miR-3180-5p	CLIP-seq
MIRT1007335	hsa-miR-32	CLIP-seq
MIRT1007336	hsa-miR-34b	CLIP-seq
MIRT1007337	hsa-miR-3545-5p	CLIP-seq
MIRT1007338	hsa-miR-3607-3p	CLIP-seq
MIRT1007339	hsa-miR-3614-3p	CLIP-seq
MIRT1007340	hsa-miR-361-5p	CLIP-seq
MIRT1007341	hsa-miR-3616-3p	CLIP-seq
MIRT1007342	hsa-miR-363	CLIP-seq
MIRT1007343	hsa-miR-3651	CLIP-seq
MIRT1007344	hsa-miR-3653	CLIP-seq
MIRT1007345	hsa-miR-3657	CLIP-seq
MIRT1007346	hsa-miR-367	CLIP-seq
MIRT1007347	hsa-miR-3680	CLIP-seq
MIRT1007348	hsa-miR-3684	CLIP-seq
MIRT1007349	hsa-miR-3686	CLIP-seq
MIRT1007350	hsa-miR-380	CLIP-seq
MIRT1007351	hsa-miR-3907	CLIP-seq
MIRT1007352	hsa-miR-3914	CLIP-seq
MIRT1007353	hsa-miR-3934	CLIP-seq
MIRT1007354	hsa-miR-3940-5p	CLIP-seq
MIRT1007355	hsa-miR-424	CLIP-seq
MIRT1007356	hsa-miR-4302	CLIP-seq
MIRT1007357	hsa-miR-4420	CLIP-seq
MIRT1007358	hsa-miR-4427	CLIP-seq
MIRT1007359	hsa-miR-4495	CLIP-seq
MIRT1007360	hsa-miR-4506	CLIP-seq
MIRT1007361	hsa-miR-4507	CLIP-seq
MIRT1007362	hsa-miR-4511	CLIP-seq
MIRT1007363	hsa-miR-4524	CLIP-seq
MIRT1007364	hsa-miR-4527	CLIP-seq
MIRT1007365	hsa-miR-454	CLIP-seq
MIRT1007366	hsa-miR-455-3p	CLIP-seq
MIRT1007367	hsa-miR-4639-3p	CLIP-seq
MIRT1007368	hsa-miR-4645-3p	CLIP-seq
MIRT1007369	hsa-miR-4680-3p	CLIP-seq
MIRT1007370	hsa-miR-4693-3p	CLIP-seq
MIRT1007371	hsa-miR-4705	CLIP-seq
MIRT1007372	hsa-miR-4712-3p	CLIP-seq
MIRT1007373	hsa-miR-4721	CLIP-seq
MIRT1007374	hsa-miR-4735-5p	CLIP-seq
MIRT1007375	hsa-miR-4753-3p	CLIP-seq
MIRT1007376	hsa-miR-4778-3p	CLIP-seq
MIRT1007377	hsa-miR-4778-5p	CLIP-seq
MIRT1007378	hsa-miR-4782-5p	CLIP-seq
MIRT1007379	hsa-miR-4790-3p	CLIP-seq
MIRT1007380	hsa-miR-4798-3p	CLIP-seq
MIRT1007381	hsa-miR-495	CLIP-seq
MIRT1007382	hsa-miR-497	CLIP-seq
MIRT1007383	hsa-miR-501-5p	CLIP-seq
MIRT1007384	hsa-miR-503	CLIP-seq
MIRT1007385	hsa-miR-516b	CLIP-seq
MIRT1007386	hsa-miR-520a-5p	CLIP-seq
MIRT1007387	hsa-miR-520d-5p	CLIP-seq
MIRT1007388	hsa-miR-520g	CLIP-seq
MIRT1007389	hsa-miR-522	CLIP-seq
MIRT1007390	hsa-miR-524-5p	CLIP-seq
MIRT1007391	hsa-miR-525-5p	CLIP-seq
MIRT1007392	hsa-miR-545	CLIP-seq
MIRT1007393	hsa-miR-561	CLIP-seq
MIRT1007394	hsa-miR-576-5p	CLIP-seq
MIRT1007395	hsa-miR-610	CLIP-seq
MIRT1007396	hsa-miR-634	CLIP-seq
MIRT1007397	hsa-miR-646	CLIP-seq
MIRT1007398	hsa-miR-654-3p	CLIP-seq
MIRT1007399	hsa-miR-659	CLIP-seq
MIRT1007400	hsa-miR-7	CLIP-seq
MIRT1007401	hsa-miR-802	CLIP-seq
MIRT1007402	hsa-miR-875-3p	CLIP-seq
MIRT1007403	hsa-miR-9	CLIP-seq
MIRT1007404	hsa-miR-92a	CLIP-seq
MIRT1007405	hsa-miR-92b	CLIP-seq
MIRT1007406	hsa-miR-936	CLIP-seq
MIRT1007407	hsa-miR-942	CLIP-seq
MIRT1007408	hsa-miR-96	CLIP-seq
MIRT1007282	hsa-miR-1184	CLIP-seq
MIRT1007283	hsa-miR-1205	CLIP-seq
MIRT1007310	hsa-miR-199a-3p	CLIP-seq
MIRT1007312	hsa-miR-199b-3p	CLIP-seq
MIRT1007319	hsa-miR-25	CLIP-seq
MIRT1007323	hsa-miR-30a	CLIP-seq
MIRT1007324	hsa-miR-30b	CLIP-seq
MIRT1007325	hsa-miR-30c	CLIP-seq
MIRT1007326	hsa-miR-30d	CLIP-seq
MIRT1007327	hsa-miR-30e	CLIP-seq
MIRT1007329	hsa-miR-3120-3p	CLIP-seq
MIRT1007331	hsa-miR-3129-5p	CLIP-seq
MIRT1007333	hsa-miR-3158-5p	CLIP-seq
MIRT1007335	hsa-miR-32	CLIP-seq
MIRT1007342	hsa-miR-363	CLIP-seq
MIRT1007346	hsa-miR-367	CLIP-seq
MIRT1007367	hsa-miR-4639-3p	CLIP-seq
MIRT1007381	hsa-miR-495	CLIP-seq
MIRT1998459	hsa-miR-630	CLIP-seq
MIRT1007398	hsa-miR-654-3p	CLIP-seq
MIRT1007404	hsa-miR-92a	CLIP-seq
MIRT1007405	hsa-miR-92b	CLIP-seq
MIRT1007406	hsa-miR-936	CLIP-seq
MIRT1998460	hsa-miR-10a	CLIP-seq
MIRT1998461	hsa-miR-10b	CLIP-seq
MIRT1998462	hsa-miR-124	CLIP-seq
MIRT1007302	hsa-miR-154	CLIP-seq
MIRT1998463	hsa-miR-208a	CLIP-seq
MIRT1998464	hsa-miR-208b	CLIP-seq
MIRT1998465	hsa-miR-3140-5p	CLIP-seq
MIRT1998466	hsa-miR-3617	CLIP-seq
MIRT1998467	hsa-miR-362-5p	CLIP-seq
MIRT1998468	hsa-miR-3682-3p	CLIP-seq
MIRT1998469	hsa-miR-3685	CLIP-seq
MIRT1998470	hsa-miR-3688-3p	CLIP-seq
MIRT1998471	hsa-miR-384	CLIP-seq
MIRT1998472	hsa-miR-3922-5p	CLIP-seq
MIRT1007353	hsa-miR-3934	CLIP-seq
MIRT1998473	hsa-miR-4261	CLIP-seq
MIRT1007358	hsa-miR-4427	CLIP-seq
MIRT1998474	hsa-miR-4502	CLIP-seq
MIRT1007369	hsa-miR-4680-3p	CLIP-seq
MIRT1998475	hsa-miR-4694-5p	CLIP-seq
MIRT1007379	hsa-miR-4790-3p	CLIP-seq
MIRT1998476	hsa-miR-499-5p	CLIP-seq
MIRT1998477	hsa-miR-500b	CLIP-seq
MIRT1007383	hsa-miR-501-5p	CLIP-seq
MIRT1998478	hsa-miR-506	CLIP-seq
MIRT1998479	hsa-miR-513c	CLIP-seq
MIRT1998480	hsa-miR-514b-5p	CLIP-seq
MIRT1998481	hsa-miR-552	CLIP-seq
MIRT1998482	hsa-miR-641	CLIP-seq
MIRT1007398	hsa-miR-654-3p	CLIP-seq
MIRT2232151	hsa-miR-106a	CLIP-seq
MIRT2232152	hsa-miR-106b	CLIP-seq
MIRT1998460	hsa-miR-10a	CLIP-seq
MIRT1998461	hsa-miR-10b	CLIP-seq
MIRT2232153	hsa-miR-1178	CLIP-seq
MIRT2232154	hsa-miR-1182	CLIP-seq
MIRT2232155	hsa-miR-1185	CLIP-seq
MIRT2232156	hsa-miR-1236	CLIP-seq
MIRT1007285	hsa-miR-1238	CLIP-seq
MIRT1998462	hsa-miR-124	CLIP-seq
MIRT1007286	hsa-miR-1244	CLIP-seq
MIRT1007287	hsa-miR-1245b-3p	CLIP-seq
MIRT2232157	hsa-miR-1266	CLIP-seq
MIRT1007290	hsa-miR-1273g	CLIP-seq
MIRT2232158	hsa-miR-1298	CLIP-seq
MIRT1007295	hsa-miR-130a	CLIP-seq
MIRT1007296	hsa-miR-130b	CLIP-seq
MIRT2232159	hsa-miR-132	CLIP-seq
MIRT1007297	hsa-miR-145	CLIP-seq
MIRT2232160	hsa-miR-146a	CLIP-seq
MIRT2232161	hsa-miR-146b-5p	CLIP-seq
MIRT1007298	hsa-miR-148a	CLIP-seq
MIRT1007299	hsa-miR-148b	CLIP-seq
MIRT1007300	hsa-miR-152	CLIP-seq
MIRT1007301	hsa-miR-153	CLIP-seq
MIRT1007302	hsa-miR-154	CLIP-seq
MIRT2232162	hsa-miR-17	CLIP-seq
MIRT1007307	hsa-miR-1825	CLIP-seq
MIRT2232163	hsa-miR-194	CLIP-seq
MIRT1007310	hsa-miR-199a-3p	CLIP-seq
MIRT1007311	hsa-miR-199a-5p	CLIP-seq
MIRT1007312	hsa-miR-199b-3p	CLIP-seq
MIRT1007313	hsa-miR-199b-5p	CLIP-seq
MIRT1007314	hsa-miR-19a	CLIP-seq
MIRT1007315	hsa-miR-19b	CLIP-seq
MIRT2232164	hsa-miR-204	CLIP-seq
MIRT2232165	hsa-miR-20a	CLIP-seq
MIRT2232166	hsa-miR-20b	CLIP-seq
MIRT2232167	hsa-miR-211	CLIP-seq
MIRT2232168	hsa-miR-2113	CLIP-seq
MIRT2232169	hsa-miR-212	CLIP-seq
MIRT1007316	hsa-miR-23a	CLIP-seq
MIRT1007317	hsa-miR-23b	CLIP-seq
MIRT1007318	hsa-miR-23c	CLIP-seq
MIRT2232170	hsa-miR-2467-3p	CLIP-seq
MIRT1007321	hsa-miR-301a	CLIP-seq
MIRT1007322	hsa-miR-301b	CLIP-seq
MIRT1007328	hsa-miR-31	CLIP-seq
MIRT1007329	hsa-miR-3120-3p	CLIP-seq
MIRT1007331	hsa-miR-3129-5p	CLIP-seq
MIRT1007332	hsa-miR-3133	CLIP-seq
MIRT1998465	hsa-miR-3140-5p	CLIP-seq
MIRT2232171	hsa-miR-3143	CLIP-seq
MIRT1007333	hsa-miR-3158-5p	CLIP-seq
MIRT2232172	hsa-miR-33a	CLIP-seq
MIRT2232173	hsa-miR-33b	CLIP-seq
MIRT1007336	hsa-miR-34b	CLIP-seq
MIRT1007337	hsa-miR-3545-5p	CLIP-seq
MIRT1007338	hsa-miR-3607-3p	CLIP-seq
MIRT2232174	hsa-miR-3607-5p	CLIP-seq
MIRT1998467	hsa-miR-362-5p	CLIP-seq
MIRT2232175	hsa-miR-3647-3p	CLIP-seq
MIRT1007345	hsa-miR-3657	CLIP-seq
MIRT2232176	hsa-miR-3660	CLIP-seq
MIRT2232177	hsa-miR-3678-3p	CLIP-seq
MIRT2232178	hsa-miR-3679-5p	CLIP-seq
MIRT1998468	hsa-miR-3682-3p	CLIP-seq
MIRT1007349	hsa-miR-3686	CLIP-seq
MIRT1007350	hsa-miR-380	CLIP-seq
MIRT1998472	hsa-miR-3922-5p	CLIP-seq
MIRT2232179	hsa-miR-3927	CLIP-seq
MIRT2232180	hsa-miR-3928	CLIP-seq
MIRT1007353	hsa-miR-3934	CLIP-seq
MIRT2232181	hsa-miR-3945	CLIP-seq
MIRT2232182	hsa-miR-409-3p	CLIP-seq
MIRT2232183	hsa-miR-4253	CLIP-seq
MIRT2232184	hsa-miR-4291	CLIP-seq
MIRT2232185	hsa-miR-4307	CLIP-seq
MIRT2232186	hsa-miR-4310	CLIP-seq
MIRT1007357	hsa-miR-4420	CLIP-seq
MIRT2232187	hsa-miR-4423-3p	CLIP-seq
MIRT1007358	hsa-miR-4427	CLIP-seq
MIRT1007359	hsa-miR-4495	CLIP-seq
MIRT1998474	hsa-miR-4502	CLIP-seq
MIRT2232188	hsa-miR-4518	CLIP-seq
MIRT2232189	hsa-miR-4526	CLIP-seq
MIRT1007365	hsa-miR-454	CLIP-seq
MIRT2232190	hsa-miR-4641	CLIP-seq
MIRT2232191	hsa-miR-4658	CLIP-seq
MIRT1007369	hsa-miR-4680-3p	CLIP-seq
MIRT2232192	hsa-miR-4690-3p	CLIP-seq
MIRT1007370	hsa-miR-4693-3p	CLIP-seq
MIRT2232193	hsa-miR-4704-5p	CLIP-seq
MIRT1007371	hsa-miR-4705	CLIP-seq
MIRT1007372	hsa-miR-4712-3p	CLIP-seq
MIRT2232194	hsa-miR-4733-5p	CLIP-seq
MIRT2232195	hsa-miR-4755-5p	CLIP-seq
MIRT2232196	hsa-miR-4756-3p	CLIP-seq
MIRT2232197	hsa-miR-4758-5p	CLIP-seq
MIRT2232198	hsa-miR-4780	CLIP-seq
MIRT1007379	hsa-miR-4790-3p	CLIP-seq
MIRT1007381	hsa-miR-495	CLIP-seq
MIRT1998477	hsa-miR-500b	CLIP-seq
MIRT1007383	hsa-miR-501-5p	CLIP-seq
MIRT2232199	hsa-miR-502-5p	CLIP-seq
MIRT1998478	hsa-miR-506	CLIP-seq
MIRT2232200	hsa-miR-511	CLIP-seq
MIRT1998479	hsa-miR-513c	CLIP-seq
MIRT1998480	hsa-miR-514b-5p	CLIP-seq
MIRT2232201	hsa-miR-519d	CLIP-seq
MIRT1007387	hsa-miR-520d-5p	CLIP-seq
MIRT1007390	hsa-miR-524-5p	CLIP-seq
MIRT2232202	hsa-miR-543	CLIP-seq
MIRT2232203	hsa-miR-548b-3p	CLIP-seq
MIRT2232204	hsa-miR-548l	CLIP-seq
MIRT2232205	hsa-miR-548u	CLIP-seq
MIRT2232206	hsa-miR-580	CLIP-seq
MIRT2232207	hsa-miR-589	CLIP-seq
MIRT2232208	hsa-miR-607	CLIP-seq
MIRT2232209	hsa-miR-623	CLIP-seq
MIRT1998459	hsa-miR-630	CLIP-seq
MIRT1007398	hsa-miR-654-3p	CLIP-seq
MIRT1007399	hsa-miR-659	CLIP-seq
MIRT2232210	hsa-miR-758	CLIP-seq
MIRT2232211	hsa-miR-890	CLIP-seq
MIRT2232212	hsa-miR-93	CLIP-seq
MIRT2232213	hsa-miR-935	CLIP-seq
MIRT1007406	hsa-miR-936	CLIP-seq
MIRT1998462	hsa-miR-124	CLIP-seq
MIRT1007303	hsa-miR-15a	CLIP-seq
MIRT1007304	hsa-miR-15b	CLIP-seq
MIRT1007305	hsa-miR-16	CLIP-seq
MIRT1007309	hsa-miR-195	CLIP-seq
MIRT1998468	hsa-miR-3682-3p	CLIP-seq
MIRT1007349	hsa-miR-3686	CLIP-seq
MIRT1998472	hsa-miR-3922-5p	CLIP-seq
MIRT1007353	hsa-miR-3934	CLIP-seq
MIRT1007355	hsa-miR-424	CLIP-seq
MIRT1998474	hsa-miR-4502	CLIP-seq
MIRT1007363	hsa-miR-4524	CLIP-seq
MIRT1007374	hsa-miR-4735-5p	CLIP-seq
MIRT1007377	hsa-miR-4778-5p	CLIP-seq
MIRT1007382	hsa-miR-497	CLIP-seq
MIRT1007384	hsa-miR-503	CLIP-seq
MIRT1998478	hsa-miR-506	CLIP-seq
MIRT1998479	hsa-miR-513c	CLIP-seq
MIRT1998480	hsa-miR-514b-5p	CLIP-seq
MIRT1007394	hsa-miR-576-5p	CLIP-seq
MIRT1007397	hsa-miR-646	CLIP-seq
MIRT1007287	hsa-miR-1245b-3p	CLIP-seq
MIRT1007311	hsa-miR-199a-5p	CLIP-seq
MIRT1007313	hsa-miR-199b-5p	CLIP-seq
MIRT1007333	hsa-miR-3158-5p	CLIP-seq
MIRT1007345	hsa-miR-3657	CLIP-seq
MIRT1007370	hsa-miR-4693-3p	CLIP-seq
MIRT1007372	hsa-miR-4712-3p	CLIP-seq
MIRT1007381	hsa-miR-495	CLIP-seq
MIRT1998459	hsa-miR-630	CLIP-seq
MIRT2465335	hsa-miR-3074-3p	CLIP-seq
MIRT2465336	hsa-miR-4436a	CLIP-seq
MIRT2465337	hsa-miR-4775	CLIP-seq
MIRT2465338	hsa-miR-590-3p	CLIP-seq
MIRT2232151	hsa-miR-106a	CLIP-seq
MIRT2232152	hsa-miR-106b	CLIP-seq
MIRT1998460	hsa-miR-10a	CLIP-seq
MIRT1998461	hsa-miR-10b	CLIP-seq
MIRT1007282	hsa-miR-1184	CLIP-seq
MIRT1007283	hsa-miR-1205	CLIP-seq
MIRT2535969	hsa-miR-1228	CLIP-seq
MIRT1007285	hsa-miR-1238	CLIP-seq
MIRT1007287	hsa-miR-1245b-3p	CLIP-seq
MIRT1007289	hsa-miR-1271	CLIP-seq
MIRT1007297	hsa-miR-145	CLIP-seq
MIRT2232162	hsa-miR-17	CLIP-seq
MIRT1007306	hsa-miR-182	CLIP-seq
MIRT1007307	hsa-miR-1825	CLIP-seq
MIRT1007311	hsa-miR-199a-5p	CLIP-seq
MIRT1007313	hsa-miR-199b-5p	CLIP-seq
MIRT2535970	hsa-miR-205	CLIP-seq
MIRT2232165	hsa-miR-20a	CLIP-seq
MIRT2232166	hsa-miR-20b	CLIP-seq
MIRT1007328	hsa-miR-31	CLIP-seq
MIRT1007329	hsa-miR-3120-3p	CLIP-seq
MIRT1998465	hsa-miR-3140-5p	CLIP-seq
MIRT2535971	hsa-miR-3148	CLIP-seq
MIRT1007333	hsa-miR-3158-5p	CLIP-seq
MIRT1007337	hsa-miR-3545-5p	CLIP-seq
MIRT1998467	hsa-miR-362-5p	CLIP-seq
MIRT1007345	hsa-miR-3657	CLIP-seq
MIRT2535972	hsa-miR-3664-3p	CLIP-seq
MIRT2535973	hsa-miR-4282	CLIP-seq
MIRT2232186	hsa-miR-4310	CLIP-seq
MIRT2535974	hsa-miR-4493	CLIP-seq
MIRT1007359	hsa-miR-4495	CLIP-seq
MIRT1007364	hsa-miR-4527	CLIP-seq
MIRT2535975	hsa-miR-4652-3p	CLIP-seq
MIRT1007369	hsa-miR-4680-3p	CLIP-seq
MIRT1007370	hsa-miR-4693-3p	CLIP-seq
MIRT1007372	hsa-miR-4712-3p	CLIP-seq
MIRT1007377	hsa-miR-4778-5p	CLIP-seq
MIRT1007381	hsa-miR-495	CLIP-seq
MIRT1998477	hsa-miR-500b	CLIP-seq
MIRT2535976	hsa-miR-501-3p	CLIP-seq
MIRT1007383	hsa-miR-501-5p	CLIP-seq
MIRT2535977	hsa-miR-502-3p	CLIP-seq
MIRT2232201	hsa-miR-519d	CLIP-seq
MIRT2232203	hsa-miR-548b-3p	CLIP-seq
MIRT2232205	hsa-miR-548u	CLIP-seq
MIRT1998459	hsa-miR-630	CLIP-seq
MIRT1007396	hsa-miR-634	CLIP-seq
MIRT2535978	hsa-miR-873	CLIP-seq
MIRT1007403	hsa-miR-9	CLIP-seq
MIRT2232212	hsa-miR-93	CLIP-seq
MIRT1007408	hsa-miR-96	CLIP-seq
MIRT2232151	hsa-miR-106a	CLIP-seq
MIRT2232152	hsa-miR-106b	CLIP-seq
MIRT1998460	hsa-miR-10a	CLIP-seq
MIRT1998461	hsa-miR-10b	CLIP-seq
MIRT2232162	hsa-miR-17	CLIP-seq
MIRT2232165	hsa-miR-20a	CLIP-seq
MIRT2232166	hsa-miR-20b	CLIP-seq
MIRT1007359	hsa-miR-4495	CLIP-seq
MIRT2232201	hsa-miR-519d	CLIP-seq
MIRT2232205	hsa-miR-548u	CLIP-seq
MIRT2232212	hsa-miR-93	CLIP-seq
MIRT1007328	hsa-miR-31	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002183	Process	Cytoplasmic translational initiation	IDA	34731628
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IDA	35989368
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	IMP	25225333
GO:0003723	Function	RNA binding	TAS	7781595
GO:0003729	Function	MRNA binding	IEA
GO:0003730	Function	MRNA 3'-UTR binding	IBA
GO:0003730	Function	MRNA 3'-UTR binding	IDA	34731628
GO:0005515	Function	Protein binding	IPI	7489725, 11157796, 15380484, 15471871, 16571602, 21653829, 24981860, 25225333, 26949739, 28514442, 31413325, 32296183, 32525608, 32838362, 33961781, 34270554, 36217029, 37207277, 39251607
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	32706158
GO:0005635	Component	Nuclear envelope	IEA
GO:0005730	Component	Nucleolus	TAS	10888599
GO:0005737	Component	Cytoplasm	IDA	9259278
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	30770808
GO:0005737	Component	Cytoplasm	TAS	7781595
GO:0005829	Component	Cytosol	IDA	30770808
GO:0005829	Component	Cytosol	IEA
GO:0005840	Component	Ribosome	IEA
GO:0006417	Process	Regulation of translation	IEA
GO:0006915	Process	Apoptotic process	TAS	9642279
GO:0007283	Process	Spermatogenesis	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0007286	Process	Spermatid development	ISS	35951695
GO:0007517	Process	Muscle organ development	IEA
GO:0007517	Process	Muscle organ development	IMP	30770808
GO:0010494	Component	Cytoplasmic stress granule	IBA
GO:0010494	Component	Cytoplasmic stress granule	IDA	12417522, 20417602
GO:0010494	Component	Cytoplasmic stress granule	IEA
GO:0010608	Process	Post-transcriptional regulation of gene expression	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0017148	Process	Negative regulation of translation	IEA
GO:0021542	Process	Dentate gyrus development	IEA
GO:0021542	Process	Dentate gyrus development	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IEA
GO:0032720	Process	Negative regulation of tumor necrosis factor production	ISS
GO:0033592	Function	RNA strand annealing activity	IDA	17057366
GO:0035025	Process	Positive regulation of Rho protein signal transduction	IDA	39106863
GO:0035770	Component	Ribonucleoprotein granule	IEA
GO:0035925	Function	MRNA 3'-UTR AU-rich region binding	IDA	17382880, 30067974, 34731628
GO:0035925	Function	MRNA 3'-UTR AU-rich region binding	IEA
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA	32706158
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	7489725
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043021	Function	Ribonucleoprotein complex binding	IEA
GO:0043034	Component	Costamere	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0043232	Component	Intracellular membraneless organelle	IEA
GO:0043232	Component	Intracellular membraneless organelle	ISS
GO:0043488	Process	Regulation of mRNA stability	IBA
GO:0045182	Function	Translation regulator activity	IBA
GO:0045187	Process	Regulation of circadian sleep/wake cycle, sleep	IEA
GO:0045187	Process	Regulation of circadian sleep/wake cycle, sleep	ISS
GO:0045202	Component	Synapse	IEA
GO:0045727	Process	Positive regulation of translation	IBA
GO:0045727	Process	Positive regulation of translation	IDA	17382880, 34731628, 36306353
GO:0045727	Process	Positive regulation of translation	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	7489725
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0048170	Process	Positive regulation of long-term neuronal synaptic plasticity	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048513	Process	Animal organ development	IBA
GO:0050728	Process	Negative regulation of inflammatory response	IDA	30067974
GO:0050767	Process	Regulation of neurogenesis	IEA
GO:0050767	Process	Regulation of neurogenesis	ISS
GO:0051028	Process	MRNA transport	IBA
GO:0051292	Process	Nuclear pore complex assembly	IDA	32706158
GO:0051664	Process	Nuclear pore localization	IDA	32706158
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	IEA
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	ISS
GO:0060538	Process	Skeletal muscle organ development	IEA
GO:0060538	Process	Skeletal muscle organ development	IMP	30770808
GO:0061061	Process	Muscle structure development	IEA
GO:0061157	Process	MRNA destabilization	IDA	30067974
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099577	Process	Regulation of translation at presynapse, modulating synaptic transmission	IBA
GO:0140693	Function	Molecular condensate scaffold activity	IDA	39106863
GO:0140693	Function	Molecular condensate scaffold activity	IEA
GO:0140693	Function	Molecular condensate scaffold activity	ISS	35951695
GO:0140694	Process	Membraneless organelle assembly	IDA	39106863
GO:0140694	Process	Membraneless organelle assembly	IEA
GO:0140694	Process	Membraneless organelle assembly	ISS	35951695
GO:0140694	Process	Membraneless organelle assembly	ISS	35951695
GO:1900272	Process	Negative regulation of long-term synaptic potentiation	IEA
GO:1900272	Process	Negative regulation of long-term synaptic potentiation	ISS
GO:1902373	Process	Negative regulation of mRNA catabolic process	IMP	25225333
GO:2000637	Process	Positive regulation of miRNA-mediated gene silencing	IDA	17057366

Other IDs

• MIM: 600819
• HGNC: 4023
• e!Ensembl: ENSG00000114416

Protein

• UniProt ID: P51114
• Protein name: RNA-binding protein FXR1 (FMR1 autosomal homolog 1) (hFXR1p)
• Protein function: mRNA-binding protein that acts as a regulator of mRNAs translation and/or stability, and which is required for various processes, such as neurogenesis, muscle development and spermatogenesis (PubMed:17382880, PubMed:20417602, PubMed:30067974, Pu
• PDB: 2CPQ, 3KUF, 3O8V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18336	Tudor_FRX1	4 → 52	Fragile X mental retardation Tudor domain	Domain
  PF05641	Agenet	62 → 117	Agenet domain	Domain
  PF17904	KH_9	123 → 207	FMRP KH0 domain	Domain
  PF00013	KH_1	283 → 353	KH domain	Domain
  PF12235	FXMRP1_C_core	354 → 380	Fragile X-related 1 protein core C terminal	Family
  PF12235	FXMRP1_C_core	378 → 456	Fragile X-related 1 protein core C terminal	Family
  PF16096	FXR_C1	460 → 535	Fragile X-related 1 protein C-terminal region 2	Family
  PF16097	FXR_C3	554 → 620	Fragile X-related 1 protein C-terminal region 3	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all tissues examined including heart, brain, kidney and testis (PubMed:7781595, PubMed:9259278). In brain, present at high level in neurons and especially in the Purkinje cells at the interface between the granular layer a
• Sequence:

  MAELTVEVRGSNGAFYKGFIKDVHEDSLTVVFENNWQPERQVPFNEVRLPPPPDIKKEIS
  EGDEVEVYSRANDQEPCGWWLAKVRMMKGEFYVIEYAACDATYNEIVTFERLRPVNQNKT
  VKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKR
  VNILSDMHLRSIRTKLMLMSRNEEATKHLECTKQLAAAFHEEFVVREDLMGLAIGTHGSN
  IQQARKVPGVTAIELDEDTGTFRIYGESADAVKKARGFLEFVEDFIQVPRNLVGKVIGKN
  GKVIQEIVDKSGVVRVRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYLKE
  VEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELS
  DWSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLL
  DNTESDQTADTDASESHHSTNRRRRSRRRRTDEDAVLMDGMTESDTASVNENGLVTVADY
  ISRAESQSRQRNLPRETLAKNKKEMAKDVIEEHGPSEKAINGPTSASGDDISKLQRTPGE
  EKINTLKEENTQEAAVLNGVS

• Sequence length: 621

Pathways

Reactome:

Signaling by BRAF and RAF fusions

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Intellectual disability	Likely pathogenic	rs754901294	RCV001291080	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, congenital proximal, with minicore lesions	Pathogenic	rs769011065, rs1322244059	RCV003152556 RCV003152557	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, congenital, with respiratory insufficiency and bone fractures	Pathogenic	rs1577005361	RCV001027877	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL MYOPATHY 9A	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY 9B, PROXIMAL, WITH MINICORE LESIONS	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delayed gross motor development	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROSS MOTOR DEVELOPMENT DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASTOCYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiminicore myopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal respiratory distress	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	17332367		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31831836		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	33871026	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	33871026	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29706865		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29706865		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	30559470	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	33863995	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	26433762		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	26433762, 28242499	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	29706865		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	30167849	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35194031	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37517087	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	29101288		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	29101288		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	27357083	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26404134		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26404134	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	27357083		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28242499		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	28242499	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	28242499	Associate	★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	26433762		★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	GWASCAT_DG	26433762		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33863995	Associate	★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	18628314, 23555284, 24108105, 30654445, 7489725		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	29101288		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	18628314, 23555284		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23881279, 30746571		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23881279, 25733852, 26404134, 27606879, 28767039, 30894247		★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	30755307		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	28242499		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24580015, 29608406		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28242499		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28204491		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18628314		★☆☆☆☆ Found in Text Mining only
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)	Minicore myopathy with external ophthalmoplegia	BEFREE	30770808		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	29852926		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	28242499, 29706865		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	28242499	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	27606879	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	18628314, 20519410, 23555284		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	LHGDN	18628314		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	30770808		★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	35393337	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26404134, 30746571		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	30894247		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25733852, 30019650		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34995016	Associate	★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	28578884		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23881279, 30746571		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	30894247	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 29483656, 30285260, 31268507, 31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	29706865		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	33863995	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	17290396, 17332367, 30755307		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	17290396		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27606879, 35886008	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	25733852		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	27606879, 29142209		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	29101288		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28387221		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28387221	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35194031	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	30894247	Associate	★☆☆☆☆ Found in Text Mining only