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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	1729
Gene name	Diaphanous related formin 1
Gene symbol	DIAPH1
Synonyms (NCBI Gene)	DFNA1DIA1DRF1LFHL1SCBMShDIA1mDia1
Chromosome	5
Chromosome location	5q31.3
Summary	This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphano

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SNP ID	Visualize variation	Clinical significance	Consequence
rs182139018	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs189809247	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs193036129	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Missense variant, coding sequence variant
rs200606811	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs367786290	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs369494682	G>A,T	Likely-benign, likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, stop gained
rs730882242	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs863225242	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs863225243	G>A	Pathogenic	Coding sequence variant, stop gained
rs876657776	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057524293	G>A	Pathogenic	Stop gained, coding sequence variant
rs1064794044	GC>A	Pathogenic	Coding sequence variant, frameshift variant
rs1064797096	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1235751512	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1476157529	C>A,T	Pathogenic	Splice donor variant
rs1554201397	->TT	Pathogenic	Coding sequence variant, frameshift variant
rs1596335566	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596339533	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1596421912	->A	Likely-pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant

395

Show/Hide all (395)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032344	hsa-let-7b-5p	Proteomics	18668040
MIRT032344	hsa-let-7b-5p	CLASH	23622248
MIRT051524	hsa-let-7e-5p	CLASH	23622248
MIRT050684	hsa-miR-18a-5p	CLASH	23622248
MIRT049688	hsa-miR-92a-3p	CLASH	23622248
MIRT049688	hsa-miR-92a-3p	CLASH	23622248
MIRT049688	hsa-miR-92a-3p	CLASH	23622248
MIRT046300	hsa-miR-23b-3p	CLASH	23622248
MIRT046300	hsa-miR-23b-3p	CLASH	23622248
MIRT046188	hsa-miR-27b-3p	CLASH	23622248
MIRT045342	hsa-miR-185-5p	CLASH	23622248
MIRT044627	hsa-miR-320a	CLASH	23622248
MIRT043807	hsa-miR-328-3p	CLASH	23622248
MIRT039957	hsa-miR-615-3p	CLASH	23622248
MIRT624154	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624153	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT624152	hsa-miR-3183	HITS-CLIP	23824327
MIRT624151	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT624150	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT624149	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT312255	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT624148	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT624147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624146	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT624145	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT624144	hsa-miR-4433b-5p	HITS-CLIP	23824327
MIRT624143	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT624142	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT659003	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT659002	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT659001	hsa-miR-4459	HITS-CLIP	23824327
MIRT659000	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT658999	hsa-miR-2467-5p	HITS-CLIP	23824327
MIRT658998	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT658997	hsa-miR-3674	HITS-CLIP	23824327
MIRT624154	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624153	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT624152	hsa-miR-3183	HITS-CLIP	23824327
MIRT624151	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT624150	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT624149	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT312255	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT624148	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT624147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624146	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT624145	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT624154	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624153	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT624152	hsa-miR-3183	HITS-CLIP	23824327
MIRT624151	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT624150	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT624149	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT312255	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT624148	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT624147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624146	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT624145	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT624154	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624153	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT624152	hsa-miR-3183	HITS-CLIP	23824327
MIRT624151	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT624150	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT624149	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT312255	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT624148	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT624147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624146	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT624145	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT624144	hsa-miR-4433b-5p	HITS-CLIP	23824327
MIRT624143	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT624142	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT624154	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624153	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT624152	hsa-miR-3183	HITS-CLIP	23824327
MIRT624151	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT624150	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT624149	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT312255	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT624148	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT624147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624146	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT624145	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT624144	hsa-miR-4433b-5p	HITS-CLIP	23824327
MIRT624143	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT624142	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT659003	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT659002	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT659001	hsa-miR-4459	HITS-CLIP	23824327
MIRT659000	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT658999	hsa-miR-2467-5p	HITS-CLIP	23824327
MIRT658998	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT658997	hsa-miR-3674	HITS-CLIP	23824327
MIRT624154	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624153	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT624152	hsa-miR-3183	HITS-CLIP	23824327
MIRT624151	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT624150	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT624149	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT312255	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT624148	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT624147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624146	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT624145	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT624154	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624153	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT624152	hsa-miR-3183	HITS-CLIP	23824327
MIRT624151	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT624150	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT624149	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT312255	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT624148	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT624147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624146	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT624145	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT624154	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624153	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT624152	hsa-miR-3183	HITS-CLIP	23824327
MIRT624151	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT624150	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT624149	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT312255	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT624148	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT624147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624146	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT624145	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT624144	hsa-miR-4433b-5p	HITS-CLIP	23824327
MIRT624143	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT624142	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT935852	hsa-miR-1205	CLIP-seq
MIRT935853	hsa-miR-1231	CLIP-seq
MIRT935854	hsa-miR-1237	CLIP-seq
MIRT935855	hsa-miR-124	CLIP-seq
MIRT935856	hsa-miR-1248	CLIP-seq
MIRT935857	hsa-miR-1273f	CLIP-seq
MIRT935858	hsa-miR-1286	CLIP-seq
MIRT935859	hsa-miR-140-3p	CLIP-seq
MIRT935860	hsa-miR-143	CLIP-seq
MIRT935861	hsa-miR-145	CLIP-seq
MIRT935862	hsa-miR-1909	CLIP-seq
MIRT935863	hsa-miR-1915	CLIP-seq
MIRT935864	hsa-miR-192	CLIP-seq
MIRT935865	hsa-miR-194	CLIP-seq
MIRT935866	hsa-miR-198	CLIP-seq
MIRT935867	hsa-miR-214	CLIP-seq
MIRT935868	hsa-miR-215	CLIP-seq
MIRT935869	hsa-miR-2355-5p	CLIP-seq
MIRT935870	hsa-miR-2861	CLIP-seq
MIRT935871	hsa-miR-3120-3p	CLIP-seq
MIRT935872	hsa-miR-3124-3p	CLIP-seq
MIRT935873	hsa-miR-3127-5p	CLIP-seq
MIRT935874	hsa-miR-3130-3p	CLIP-seq
MIRT935875	hsa-miR-3150b-3p	CLIP-seq
MIRT935876	hsa-miR-3153	CLIP-seq
MIRT935877	hsa-miR-3155	CLIP-seq
MIRT935878	hsa-miR-3155b	CLIP-seq
MIRT935879	hsa-miR-3157-5p	CLIP-seq
MIRT935880	hsa-miR-3173-3p	CLIP-seq
MIRT935881	hsa-miR-3173-5p	CLIP-seq
MIRT935882	hsa-miR-3176	CLIP-seq
MIRT935883	hsa-miR-3184	CLIP-seq
MIRT935884	hsa-miR-320b	CLIP-seq
MIRT935885	hsa-miR-320c	CLIP-seq
MIRT935886	hsa-miR-320d	CLIP-seq
MIRT935887	hsa-miR-331-3p	CLIP-seq
MIRT935888	hsa-miR-3616-3p	CLIP-seq
MIRT935889	hsa-miR-3619-5p	CLIP-seq
MIRT935890	hsa-miR-3689d	CLIP-seq
MIRT935891	hsa-miR-3714	CLIP-seq
MIRT935892	hsa-miR-3908	CLIP-seq
MIRT935893	hsa-miR-3910	CLIP-seq
MIRT935894	hsa-miR-3913-3p	CLIP-seq
MIRT935895	hsa-miR-3918	CLIP-seq
MIRT935896	hsa-miR-3921	CLIP-seq
MIRT935897	hsa-miR-3922-3p	CLIP-seq
MIRT935898	hsa-miR-423-5p	CLIP-seq
MIRT935899	hsa-miR-4251	CLIP-seq
MIRT935900	hsa-miR-4278	CLIP-seq
MIRT935901	hsa-miR-4288	CLIP-seq
MIRT935902	hsa-miR-4312	CLIP-seq
MIRT935903	hsa-miR-4329	CLIP-seq
MIRT935904	hsa-miR-4429	CLIP-seq
MIRT935905	hsa-miR-4436a	CLIP-seq
MIRT935906	hsa-miR-4436b-3p	CLIP-seq
MIRT935907	hsa-miR-4438	CLIP-seq
MIRT935908	hsa-miR-4446-3p	CLIP-seq
MIRT935909	hsa-miR-4457	CLIP-seq
MIRT935910	hsa-miR-4468	CLIP-seq
MIRT935911	hsa-miR-4505	CLIP-seq
MIRT935912	hsa-miR-4514	CLIP-seq
MIRT935913	hsa-miR-4640-5p	CLIP-seq
MIRT935914	hsa-miR-4645-5p	CLIP-seq
MIRT935915	hsa-miR-4653-5p	CLIP-seq
MIRT935916	hsa-miR-4656	CLIP-seq
MIRT935917	hsa-miR-4673	CLIP-seq
MIRT935918	hsa-miR-4682	CLIP-seq
MIRT935919	hsa-miR-4688	CLIP-seq
MIRT935920	hsa-miR-4691-3p	CLIP-seq
MIRT935921	hsa-miR-4692	CLIP-seq
MIRT935922	hsa-miR-4708-5p	CLIP-seq
MIRT935923	hsa-miR-4711-5p	CLIP-seq
MIRT935924	hsa-miR-4716-3p	CLIP-seq
MIRT935925	hsa-miR-4726-3p	CLIP-seq
MIRT935926	hsa-miR-4726-5p	CLIP-seq
MIRT935927	hsa-miR-4738-3p	CLIP-seq
MIRT935928	hsa-miR-4757-5p	CLIP-seq
MIRT935929	hsa-miR-4763-5p	CLIP-seq
MIRT935930	hsa-miR-4768-3p	CLIP-seq
MIRT935931	hsa-miR-4770	CLIP-seq
MIRT935932	hsa-miR-4779	CLIP-seq
MIRT935933	hsa-miR-4784	CLIP-seq
MIRT935934	hsa-miR-4793-3p	CLIP-seq
MIRT935935	hsa-miR-484	CLIP-seq
MIRT935936	hsa-miR-488	CLIP-seq
MIRT935937	hsa-miR-489	CLIP-seq
MIRT935938	hsa-miR-506	CLIP-seq
MIRT935939	hsa-miR-539	CLIP-seq
MIRT935940	hsa-miR-545	CLIP-seq
MIRT935941	hsa-miR-548l	CLIP-seq
MIRT935942	hsa-miR-548n	CLIP-seq
MIRT935943	hsa-miR-548q	CLIP-seq
MIRT935944	hsa-miR-582-3p	CLIP-seq
MIRT935945	hsa-miR-622	CLIP-seq
MIRT935946	hsa-miR-625	CLIP-seq
MIRT935947	hsa-miR-632	CLIP-seq
MIRT935948	hsa-miR-661	CLIP-seq
MIRT935949	hsa-miR-665	CLIP-seq
MIRT935950	hsa-miR-759	CLIP-seq
MIRT935951	hsa-miR-760	CLIP-seq
MIRT935952	hsa-miR-761	CLIP-seq
MIRT935953	hsa-miR-802	CLIP-seq
MIRT935954	hsa-miR-938	CLIP-seq
MIRT935955	hsa-miR-939	CLIP-seq
MIRT935890	hsa-miR-3689d	CLIP-seq
MIRT935894	hsa-miR-3913-3p	CLIP-seq
MIRT935937	hsa-miR-489	CLIP-seq
MIRT1547970	hsa-miR-495	CLIP-seq
MIRT935855	hsa-miR-124	CLIP-seq
MIRT935857	hsa-miR-1273f	CLIP-seq
MIRT1976990	hsa-miR-1294	CLIP-seq
MIRT935860	hsa-miR-143	CLIP-seq
MIRT935861	hsa-miR-145	CLIP-seq
MIRT1976991	hsa-miR-1914	CLIP-seq
MIRT935866	hsa-miR-198	CLIP-seq
MIRT935869	hsa-miR-2355-5p	CLIP-seq
MIRT935874	hsa-miR-3130-3p	CLIP-seq
MIRT1976992	hsa-miR-3147	CLIP-seq
MIRT935879	hsa-miR-3157-5p	CLIP-seq
MIRT1976993	hsa-miR-3919	CLIP-seq
MIRT1976994	hsa-miR-4276	CLIP-seq
MIRT1976995	hsa-miR-4302	CLIP-seq
MIRT935902	hsa-miR-4312	CLIP-seq
MIRT1976996	hsa-miR-4425	CLIP-seq
MIRT1976997	hsa-miR-4487	CLIP-seq
MIRT1976998	hsa-miR-4493	CLIP-seq
MIRT1976999	hsa-miR-450b-3p	CLIP-seq
MIRT1977000	hsa-miR-4660	CLIP-seq
MIRT935920	hsa-miR-4691-3p	CLIP-seq
MIRT935922	hsa-miR-4708-5p	CLIP-seq
MIRT1977001	hsa-miR-4710	CLIP-seq
MIRT1977002	hsa-miR-4731-5p	CLIP-seq
MIRT935931	hsa-miR-4770	CLIP-seq
MIRT935934	hsa-miR-4793-3p	CLIP-seq
MIRT1977003	hsa-miR-483-3p	CLIP-seq
MIRT935938	hsa-miR-506	CLIP-seq
MIRT1977004	hsa-miR-516a-3p	CLIP-seq
MIRT935943	hsa-miR-548q	CLIP-seq
MIRT1977005	hsa-miR-648	CLIP-seq
MIRT935949	hsa-miR-665	CLIP-seq
MIRT1977006	hsa-miR-769-3p	CLIP-seq
MIRT1977007	hsa-miR-942	CLIP-seq
MIRT935855	hsa-miR-124	CLIP-seq
MIRT1977008	hsa-miR-1266	CLIP-seq
MIRT935875	hsa-miR-3150b-3p	CLIP-seq
MIRT935890	hsa-miR-3689d	CLIP-seq
MIRT935893	hsa-miR-3910	CLIP-seq
MIRT935895	hsa-miR-3918	CLIP-seq
MIRT1976993	hsa-miR-3919	CLIP-seq
MIRT1977009	hsa-miR-4518	CLIP-seq
MIRT935922	hsa-miR-4708-5p	CLIP-seq
MIRT1977010	hsa-miR-4735-5p	CLIP-seq
MIRT935933	hsa-miR-4784	CLIP-seq
MIRT935938	hsa-miR-506	CLIP-seq
MIRT935949	hsa-miR-665	CLIP-seq
MIRT1977002	hsa-miR-4731-5p	CLIP-seq
MIRT935948	hsa-miR-661	CLIP-seq
MIRT935890	hsa-miR-3689d	CLIP-seq
MIRT2212444	hsa-miR-3978	CLIP-seq
MIRT935922	hsa-miR-4708-5p	CLIP-seq
MIRT935923	hsa-miR-4711-5p	CLIP-seq
MIRT935949	hsa-miR-665	CLIP-seq
MIRT935919	hsa-miR-4688	CLIP-seq
MIRT935854	hsa-miR-1237	CLIP-seq
MIRT935856	hsa-miR-1248	CLIP-seq
MIRT935872	hsa-miR-3124-3p	CLIP-seq
MIRT935873	hsa-miR-3127-5p	CLIP-seq
MIRT935882	hsa-miR-3176	CLIP-seq
MIRT935895	hsa-miR-3918	CLIP-seq
MIRT935897	hsa-miR-3922-3p	CLIP-seq
MIRT935899	hsa-miR-4251	CLIP-seq
MIRT935908	hsa-miR-4446-3p	CLIP-seq
MIRT935911	hsa-miR-4505	CLIP-seq
MIRT935916	hsa-miR-4656	CLIP-seq
MIRT935928	hsa-miR-4757-5p	CLIP-seq
MIRT935934	hsa-miR-4793-3p	CLIP-seq
MIRT935939	hsa-miR-539	CLIP-seq
MIRT935954	hsa-miR-938	CLIP-seq
MIRT935853	hsa-miR-1231	CLIP-seq
MIRT935855	hsa-miR-124	CLIP-seq
MIRT2516125	hsa-miR-1245b-5p	CLIP-seq
MIRT2516126	hsa-miR-1252	CLIP-seq
MIRT935857	hsa-miR-1273f	CLIP-seq
MIRT935860	hsa-miR-143	CLIP-seq
MIRT2516127	hsa-miR-146b-3p	CLIP-seq
MIRT2516128	hsa-miR-1827	CLIP-seq
MIRT935863	hsa-miR-1915	CLIP-seq
MIRT935864	hsa-miR-192	CLIP-seq
MIRT935865	hsa-miR-194	CLIP-seq
MIRT935866	hsa-miR-198	CLIP-seq
MIRT935867	hsa-miR-214	CLIP-seq
MIRT935868	hsa-miR-215	CLIP-seq
MIRT935870	hsa-miR-2861	CLIP-seq
MIRT2516129	hsa-miR-3121-5p	CLIP-seq
MIRT935873	hsa-miR-3127-5p	CLIP-seq
MIRT2516130	hsa-miR-3142	CLIP-seq
MIRT935875	hsa-miR-3150b-3p	CLIP-seq
MIRT935876	hsa-miR-3153	CLIP-seq
MIRT935877	hsa-miR-3155	CLIP-seq
MIRT935878	hsa-miR-3155b	CLIP-seq
MIRT935881	hsa-miR-3173-5p	CLIP-seq
MIRT935882	hsa-miR-3176	CLIP-seq
MIRT2516131	hsa-miR-323-3p	CLIP-seq
MIRT2516132	hsa-miR-33a	CLIP-seq
MIRT2516133	hsa-miR-33b	CLIP-seq
MIRT2516134	hsa-miR-3612	CLIP-seq
MIRT935889	hsa-miR-3619-5p	CLIP-seq
MIRT935891	hsa-miR-3714	CLIP-seq
MIRT935893	hsa-miR-3910	CLIP-seq
MIRT935894	hsa-miR-3913-3p	CLIP-seq
MIRT935895	hsa-miR-3918	CLIP-seq
MIRT935896	hsa-miR-3921	CLIP-seq
MIRT935897	hsa-miR-3922-3p	CLIP-seq
MIRT935899	hsa-miR-4251	CLIP-seq
MIRT2516135	hsa-miR-4271	CLIP-seq
MIRT935900	hsa-miR-4278	CLIP-seq
MIRT935901	hsa-miR-4288	CLIP-seq
MIRT935902	hsa-miR-4312	CLIP-seq
MIRT2516136	hsa-miR-4328	CLIP-seq
MIRT935903	hsa-miR-4329	CLIP-seq
MIRT935907	hsa-miR-4438	CLIP-seq
MIRT2516137	hsa-miR-4443	CLIP-seq
MIRT935908	hsa-miR-4446-3p	CLIP-seq
MIRT2516138	hsa-miR-4464	CLIP-seq
MIRT2516139	hsa-miR-4476	CLIP-seq
MIRT935911	hsa-miR-4505	CLIP-seq
MIRT2516140	hsa-miR-4533	CLIP-seq
MIRT935913	hsa-miR-4640-5p	CLIP-seq
MIRT935915	hsa-miR-4653-5p	CLIP-seq
MIRT935916	hsa-miR-4656	CLIP-seq
MIRT935918	hsa-miR-4682	CLIP-seq
MIRT935922	hsa-miR-4708-5p	CLIP-seq
MIRT2516141	hsa-miR-4715-3p	CLIP-seq
MIRT935924	hsa-miR-4716-3p	CLIP-seq
MIRT2516142	hsa-miR-4725-3p	CLIP-seq
MIRT935925	hsa-miR-4726-3p	CLIP-seq
MIRT935926	hsa-miR-4726-5p	CLIP-seq
MIRT935927	hsa-miR-4738-3p	CLIP-seq
MIRT2516143	hsa-miR-4747-5p	CLIP-seq
MIRT2516144	hsa-miR-4748	CLIP-seq
MIRT935929	hsa-miR-4763-5p	CLIP-seq
MIRT935931	hsa-miR-4770	CLIP-seq
MIRT935933	hsa-miR-4784	CLIP-seq
MIRT2516145	hsa-miR-4802-5p	CLIP-seq
MIRT935935	hsa-miR-484	CLIP-seq
MIRT935937	hsa-miR-489	CLIP-seq
MIRT2516146	hsa-miR-501-5p	CLIP-seq
MIRT935938	hsa-miR-506	CLIP-seq
MIRT935939	hsa-miR-539	CLIP-seq
MIRT935944	hsa-miR-582-3p	CLIP-seq
MIRT2516147	hsa-miR-600	CLIP-seq
MIRT935946	hsa-miR-625	CLIP-seq
MIRT935947	hsa-miR-632	CLIP-seq
MIRT2516148	hsa-miR-650	CLIP-seq
MIRT935948	hsa-miR-661	CLIP-seq
MIRT935951	hsa-miR-760	CLIP-seq
MIRT935952	hsa-miR-761	CLIP-seq
MIRT935953	hsa-miR-802	CLIP-seq
MIRT2516149	hsa-miR-874	CLIP-seq
MIRT935876	hsa-miR-3153	CLIP-seq
MIRT2516131	hsa-miR-323-3p	CLIP-seq
MIRT935900	hsa-miR-4278	CLIP-seq
MIRT2516141	hsa-miR-4715-3p	CLIP-seq
MIRT935924	hsa-miR-4716-3p	CLIP-seq
MIRT2516145	hsa-miR-4802-5p	CLIP-seq
MIRT2516147	hsa-miR-600	CLIP-seq
MIRT935946	hsa-miR-625	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003779	Function	Actin binding	IEA
GO:0005102	Function	Signaling receptor binding	NAS	9360932
GO:0005515	Function	Protein binding	IPI	18218625, 18230650, 18922799, 22190034, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007010	Process	Cytoskeleton organization	IMP	21834987
GO:0007010	Process	Cytoskeleton organization	ISS
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	TAS	9360932
GO:0008360	Process	Regulation of cell shape	IMP	21834987
GO:0016020	Component	Membrane	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030041	Process	Actin filament polymerization	IBA
GO:0030041	Process	Actin filament polymerization	ISS
GO:0030667	Component	Secretory granule membrane	TAS
GO:0031267	Function	Small GTPase binding	IEA
GO:0032587	Component	Ruffle membrane	IEA
GO:0032886	Process	Regulation of microtubule-based process	IMP	20937854
GO:0035372	Process	Protein localization to microtubule	IMP	15123714
GO:0042995	Component	Cell projection	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	15123714
GO:0051279	Process	Regulation of release of sequestered calcium ion into cytosol	IMP	15123714
GO:0051493	Process	Regulation of cytoskeleton organization	IMP	26912466
GO:0071420	Process	Cellular response to histamine	IMP	15123714
GO:0072686	Component	Mitotic spindle	IDA	15123714
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS

MIM	HGNC	e!Ensembl
602121	2876	ENSG00000131504

O60610

Protein name

Protein diaphanous homolog 1 (Diaphanous-related formin-1) (DRF1)

Protein function

Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers (By similarity). Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerizatio

PDB

8FG1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06371	Drf_GBD	84 → 268	Diaphanous GTPase-binding Domain	Family
PF06367	Drf_FH3	274 → 464	Diaphanous FH3 Domain	Family
PF06346	Drf_FH1	614 → 691		Repeat
PF06346	Drf_FH1	662 → 764		Repeat
PF02181	FH2	769 → 1146	Formin Homology 2 Domain	Family
PF06345	Drf_DAD	1197 → 1211	DRF Autoregulatory Domain	Motif

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, heart, placenta, lung, kidney, pancreas, liver, skeletal muscle and cochlea. Expressed in platelets (PubMed:26912466). {ECO:0000269|PubMed:26912466}.

Sequence

MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFTLKRLMADELERFTSMRIKKE
KEKPNSAHRNSSASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIII
KREMVSQYLYTSKAGMSQKESSKSAMMYIQELRSGLRDMPLLSCLESLRVSLNNNPVSWV
QTFGAEGLASLLDILKRLHDEKEETAGSYDSRNKHEIIRCLKAFMNNKFGIKTMLETEEG
ILLLVRAMDPAVPNMMIDAAKLLSALCILPQPEDMNERVLEAMTERAEMDEVERFQPLLD
GLKSGTTIALKVGCLQLINALITPAEELDFRVHIRSELMRLGLHQVLQDLREIENEDMRV
QLNVFDEQGEEDSYDLKGRLDDIRMEMDDFNEVFQILLNTVKDSKAEPHFLSILQHLLLV
RNDYEARPQYYKLIEECISQIVLHKNGADPDFKCRHLQIEIEGLIDQMIDKTKVEKSEAK
AAELEKKLDSELTARHELQVEMKKMESDFEQKLQDLQGEKDALHSEKQQIATEKQDLEAE
VSQLTGEVAKLTKELEDAKKEMASLSAAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPP
APGDSTTPPPPPPPPPPPPPLPGGVCISSPPSLPGGTAISPPPPLSGDATIPPPPPLPEG
VGIPSPSSLPGGTAIPPPPPLPGSARIPPPPPPLPGSAGIPPPPPPLPGEAGMPPPPPPL
PGGPGIPPPPPFPGGPGIPPPPPGMGMPPPPPFGFGVPAAPVLPFGLTPKKLYKPEVQLR
RPNWSKLVAEDLSQDCFWTKVKEDRFENNELFAKLTLTFSAQTKTSKAKKDQEGGEEKKS
VQKKKVKELKVLDSKTAQNLSIFLGSFRMPYQEIKNVILEVNEAVLTESMIQNLIKQMPE
PEQLKMLSELKDEYDDLAESEQFGVVMGTVPRLRPRLNAILFKLQFSEQVENIKPEIVSV
TAACEELRKSESFSNLLEITLLVGNYMNAGSRNAGAFGFNISFLCKLRDTKSTDQKMTLL
HFLAELCENDYPDVLKFPDELAHVEKASRVSAENLQKNLDQMKKQISDVERDVQNFPAAT
DEKDKFVEKMTSFVKDAQEQYNKLRMMHSNMETLYKELGEYFLFDPKKLSVEEFFMDLHN
FRNMFLQAVKENQKRRETEEKMRRAKLAKEKAEKERLEKQQKREQLIDMNAEGDETGVMD
SLLEALQSGAAFRRKRGPRQANRKAGCAVTSLLASELTKDDAMAAVPAKVSKNSETFPTI
LEEAKELVGRAS

Sequence length

1272

Interactions

View interactions

2814

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Auditory neuropathy spectrum disorder	Likely pathogenic	rs2513764771	RCV003984979
Autosomal dominant nonsyndromic hearing loss 1	Likely pathogenic; Pathogenic	rs763349669, rs1461242879, rs2154597562, rs771360300, rs1331356644, rs2154596284, rs2154596613, rs2099896905, rs2154596461, rs2154596416, rs2154596448, rs730882242, rs1455361577, rs2513746067, rs755174598 View all (14 more)	RCV001376740 RCV001390711 RCV001383240 RCV001919847 RCV001880335 RCV001907129 RCV001976454 RCV002033446 RCV001944993 RCV002001052 RCV001906522 RCV003984821 RCV002634595 RCV002671343 RCV002800792 RCV002852123 RCV003028508 RCV003012221 RCV000007963 RCV000488049 RCV003790985 RCV003809923 RCV003813164 RCV003810308 RCV000488304 RCV003767321 RCV001028027 RCV001041831 RCV001217050
Deafness	Pathogenic	rs863225243	RCV004798807
DIAPH1-related disorder	Likely pathogenic	rs758562288	RCV003404593
Epilepsy	Likely pathogenic; Pathogenic	rs730882242	RCV000162177
Failure to thrive	Likely pathogenic; Pathogenic	rs730882242	RCV000162177
Global developmental delay	Likely pathogenic; Pathogenic	rs730882242	RCV000162177
Hearing impairment	Likely pathogenic; Pathogenic	rs1235751512, rs1596335566	RCV001375058 RCV001003903
Macrothrombocytopenia	Likely pathogenic	rs1596335566	RCV001003903
Microcephaly	Likely pathogenic; Pathogenic	rs730882242	RCV000162177
Neonatal seizure	Pathogenic; Likely pathogenic	rs753100456, rs2099887720	RCV001328492 RCV001328493
Pendred syndrome	Likely pathogenic	rs2154596304	RCV001375466
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Pathogenic; Likely pathogenic	rs753100456, rs763349669, rs1461242879, rs2154597562, rs771360300, rs1331356644, rs2154596284, rs2154596613, rs2099896905, rs2154596461, rs2154596416, rs2154596448, rs730882242, rs1455361577, rs2513746067 View all (17 more)	RCV005866949 RCV001332581 RCV001390711 RCV001383240 RCV001919847 RCV001880335 RCV001907129 RCV001976454 RCV002033446 RCV001944993 RCV002001052 RCV001906522 RCV000201793 RCV002634595 RCV002671343 RCV002800792 RCV002852123 RCV000201796 RCV000201798 RCV003028508 RCV003012221 RCV001851727 RCV002519628 RCV003790985 RCV003809923 RCV003813164 RCV003810308 RCV003767321 RCV000625785 RCV000984508 RCV001041831 RCV001217050
Rare genetic deafness	Pathogenic	rs876657776	RCV000216048

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign	rs80342520, rs2302102	RCV005917742 RCV005889990
Beta-D-mannosidosis	Conflicting classifications of pathogenicity	rs781577050	RCV001375335
Cervical cancer	Likely benign; Benign	rs80342520, rs2302102	RCV005917744 RCV005889991
Colon adenocarcinoma	Benign; Uncertain significance	rs79558427, rs2302102, rs1006618137	RCV005870663 RCV005889989 RCV005913544
Colorectal cancer	Conflicting classifications of pathogenicity; Benign	rs193036129, rs2302102	RCV005898928 RCV005889993
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	Uncertain significance	rs201827139	RCV003325988
Familial cancer of breast	Likely benign; Benign	rs80342520, rs79558427	RCV005917741 RCV005870662
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	rs193036129	RCV005898927
Hepatocellular carcinoma	Likely benign	rs761645677	RCV005934911
Intellectual disability	Uncertain significance	rs200688040	RCV005622008
Lymphoma	Uncertain significance	rs1596381751	RCV005902116
Malignant lymphoma, large B-cell, diffuse	Benign	rs2302102	RCV005889992
Malignant tumor of esophagus	Likely benign	rs80342520	RCV005917743
Malignant tumor of urinary bladder	Likely benign	rs868531732	RCV005912148
Melanoma	Benign	rs2302102	RCV005889996
Nonpapillary renal cell carcinoma	Uncertain significance	rs765289550, rs770912928	RCV005928781 RCV005934900
Nonsyndromic Hearing Loss, Mixed	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs555848272, rs748159908, rs142402193, rs539203577, rs202157915, rs554410556, rs3075570, rs550954506	RCV000279906 RCV000362370 RCV000402540 RCV000336785 RCV000396367 RCV000267697 RCV000342257 RCV000384603
Ovarian serous cystadenocarcinoma	Likely benign	rs80342520	RCV005917746
Sarcoma	Likely benign	rs80342520	RCV005917745
See cases	Conflicting classifications of pathogenicity	rs376328260	RCV002252389
Thymoma	Likely benign	rs80342520	RCV005917747
Thyroid cancer, nonmedullary, 1	Benign	rs2302102	RCV005889995
Uterine carcinosarcoma	Benign	rs2302102	RCV005889994
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance; Benign	rs80342520, rs79558427, rs2302102, rs374236039	RCV005917748 RCV005870020 RCV005889997 RCV005902131
Vascular dementia	Uncertain significance	rs750318437	RCV002051760

Show/Hide Text Mining Associations (43)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcohol Related Disorders	Associate	34223798
amyloidosis IX	Associate	37400591
Aneuploidy	Inhibit	33689956
Arterial Occlusive Diseases	Associate	31899686
Auditory neuropathy	Associate	32087478
Blindness Cortical	Associate	33662367, 35060117
Carcinogenesis	Associate	34999731
Cerebral Infarction	Inhibit	31899686
Cerebral Infarction	Associate	31899686
Chromosomal Instability	Associate	33689956
Colorectal Neoplasms	Associate	33689956
Deafness	Associate	35060117
Deafness Autosomal Dominant 1	Associate	11709537, 18518985, 36071244
Genetic Diseases Inborn	Associate	34223798
Glioblastoma	Associate	31861134, 37427593
Hearing Loss	Associate	22938506, 26912466, 32087478, 34279089, 35060117
Hearing Loss Sensorineural	Associate	11709537, 26912466, 34223798, 34795337, 35060117
Hemorrhage	Associate	29985732
Immunologic Deficiency Syndromes	Associate	33662367
Infarction Posterior Cerebral Artery	Associate	37400591
Inflammation	Associate	34103691
Insulin Resistance	Associate	34103691
Lymphoma B Cell	Associate	33662367
Mental Disorders	Associate	28094813
Microcephaly	Associate	33662367, 35060117
Mitochondrial Diseases	Associate	33662367
Moyamoya Disease	Associate	34125151, 37400591
Nasopharyngeal Carcinoma	Associate	34999731
Neoplasm Metastasis	Associate	34999731
Neoplasms	Associate	17575049, 26893363, 33689956
Neutropenia	Associate	34223798
Nonsyndromic Deafness	Associate	28003573
Nonsyndromic sensorineural hearing loss	Associate	35060117
Obesity	Associate	34103691
Pharyngeal Neoplasms	Associate	34999731
Pregnancy Ectopic	Associate	29985732
Seizures	Associate	33662367, 35060117
Spondyloepiphyseal dysplasia Omani type	Associate	33662367
Squamous Cell Carcinoma of Head and Neck	Stimulate	30733838
Stroke	Associate	31899686
Thrombosis	Associate	31899686
Wolfram Syndrome	Associate	11709537
X Linked Combined Immunodeficiency Diseases	Associate	33662367

DIAPH1 (diaphanous related formin 1)