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	6654
Gene name	SOS Ras/Rac guanine nucleotide exchange factor 1
Gene symbol	SOS1
Synonyms (NCBI Gene)	GF1GGF1GINGFHGFNS4SOS-1
Chromosome	2
Chromosome location	2p22.1
Summary	This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins.

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SNP ID	Visualize variation	Clinical significance	Consequence
rs137852812	G>T	Pathogenic	Coding sequence variant, missense variant
rs137852813	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs137852814	T>A,C	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs138459502	G>A,C	Uncertain-significance, likely-benign, likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs139290271	A>G	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs141594736	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant, missense variant
rs143962515	T>C	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs188849286	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant
rs200786705	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs201085754	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201982464	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs202043599	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs267607079	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs267607080	A>G	Pathogenic	Coding sequence variant, missense variant
rs369277679	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs387906518	->G	Pathogenic	Coding sequence variant, frameshift variant
rs397517146	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397517147	C>T	Pathogenic	Coding sequence variant, missense variant
rs397517148	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs397517149	T>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397517150	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs397517153	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs397517154	C>A,G,T	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397517156	T>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397517159	C>T	Pathogenic	Coding sequence variant, missense variant
rs397517163	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs397517164	C>T	Pathogenic	Coding sequence variant, missense variant
rs397517166	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs397517172	T>C	Pathogenic	Coding sequence variant, missense variant
rs397517174	A>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs397517177	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs397517180	C>A	Pathogenic	Coding sequence variant, missense variant
rs574088829	T>A,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs727503436	AAAAA>-,AAA,AAAA,AAAAAA	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs727504295	C>T	Pathogenic	Missense variant, coding sequence variant
rs727505093	A>C,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs727505381	A>G	Pathogenic	Missense variant, coding sequence variant
rs730881034	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs730881043	A>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs730881044	T>C	Pathogenic	Missense variant, coding sequence variant
rs730881045	A>T	Pathogenic	Missense variant, coding sequence variant
rs730881046	G>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs730881048	CC>TT	Pathogenic	Missense variant, coding sequence variant
rs730881054	A>C,G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs772823827	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs786205522	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs886041923	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057517861	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517918	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519963	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1553353452	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553354396	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553356111	G>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1553362937	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1558474706	G>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1572830219	CTT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1572830693	AA>TC	Likely-pathogenic	Coding sequence variant, missense variant

522

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miRTarBase ID	miRNA	Experiments	Reference
MIRT046240	hsa-miR-23b-3p	CLASH	23622248
MIRT437439	hsa-miR-124-3p	Luciferase reporter assayqRT-PCRWestern blot	23817964
MIRT437439	hsa-miR-124-3p	Luciferase reporter assayqRT-PCRWestern blot	23817964
MIRT437439	hsa-miR-124-3p	Luciferase reporter assayqRT-PCRWestern blot	23817964
MIRT437439	hsa-miR-124-3p	Luciferase reporter assayqRT-PCRWestern blot	23817964
MIRT437439	hsa-miR-124-3p	Luciferase reporter assayqRT-PCRWestern blot	23817964
MIRT437439	hsa-miR-124-3p	Luciferase reporter assayqRT-PCRWestern blot	23817964
MIRT699017	hsa-miR-27a-3p	HITS-CLIP	23313552
MIRT699016	hsa-miR-27b-3p	HITS-CLIP	23313552
MIRT699015	hsa-miR-128-3p	HITS-CLIP	23313552
MIRT699014	hsa-miR-3681-3p	HITS-CLIP	23313552
MIRT699013	hsa-miR-216a-3p	HITS-CLIP	23313552
MIRT699012	hsa-miR-433-5p	HITS-CLIP	23313552
MIRT699011	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT699010	hsa-miR-196b-3p	HITS-CLIP	23313552
MIRT088625	hsa-miR-4325	HITS-CLIP	23313552
MIRT699009	hsa-miR-1178-3p	HITS-CLIP	23313552
MIRT699008	hsa-miR-548an	HITS-CLIP	23313552
MIRT699007	hsa-miR-4731-3p	HITS-CLIP	23313552
MIRT699006	hsa-miR-4801	HITS-CLIP	23313552
MIRT699005	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT699004	hsa-miR-4643	HITS-CLIP	23313552
MIRT236655	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT699003	hsa-miR-466	HITS-CLIP	23313552
MIRT236646	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT699002	hsa-miR-5089-3p	HITS-CLIP	23313552
MIRT494978	hsa-miR-5571-5p	PAR-CLIP	23708386
MIRT494976	hsa-miR-6715a-3p	PAR-CLIP	23708386
MIRT494977	hsa-miR-4691-3p	PAR-CLIP	23708386
MIRT494975	hsa-miR-3157-5p	PAR-CLIP	23708386
MIRT731133	hsa-miR-146a-5p	Western blotLuciferase reporter assay	25469565
MIRT731133	hsa-miR-146a-5p	Western blotLuciferase reporter assay	25469565
MIRT699017	hsa-miR-27a-3p	HITS-CLIP	23313552
MIRT699016	hsa-miR-27b-3p	HITS-CLIP	23313552
MIRT699015	hsa-miR-128-3p	HITS-CLIP	23313552
MIRT699014	hsa-miR-3681-3p	HITS-CLIP	23313552
MIRT699013	hsa-miR-216a-3p	HITS-CLIP	23313552
MIRT699012	hsa-miR-433-5p	HITS-CLIP	23313552
MIRT699011	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT699010	hsa-miR-196b-3p	HITS-CLIP	23313552
MIRT088625	hsa-miR-4325	HITS-CLIP	23313552
MIRT699009	hsa-miR-1178-3p	HITS-CLIP	23313552
MIRT699008	hsa-miR-548an	HITS-CLIP	23313552
MIRT699007	hsa-miR-4731-3p	HITS-CLIP	23313552
MIRT699006	hsa-miR-4801	HITS-CLIP	23313552
MIRT699005	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT699004	hsa-miR-4643	HITS-CLIP	23313552
MIRT236655	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT699003	hsa-miR-466	HITS-CLIP	23313552
MIRT236646	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT699002	hsa-miR-5089-3p	HITS-CLIP	23313552
MIRT494978	hsa-miR-5571-5p	PAR-CLIP	23708386
MIRT494976	hsa-miR-6715a-3p	PAR-CLIP	23708386
MIRT494977	hsa-miR-4691-3p	PAR-CLIP	23708386
MIRT494975	hsa-miR-3157-5p	PAR-CLIP	23708386
MIRT1379860	hsa-miR-1178	CLIP-seq
MIRT1379861	hsa-miR-1236	CLIP-seq
MIRT1379862	hsa-miR-1262	CLIP-seq
MIRT1379863	hsa-miR-1269	CLIP-seq
MIRT1379864	hsa-miR-1269b	CLIP-seq
MIRT1379865	hsa-miR-128	CLIP-seq
MIRT1379866	hsa-miR-1287	CLIP-seq
MIRT1379867	hsa-miR-1288	CLIP-seq
MIRT1379868	hsa-miR-1299	CLIP-seq
MIRT1379869	hsa-miR-155	CLIP-seq
MIRT1379870	hsa-miR-1976	CLIP-seq
MIRT1379871	hsa-miR-200b	CLIP-seq
MIRT1379872	hsa-miR-200c	CLIP-seq
MIRT1379873	hsa-miR-203	CLIP-seq
MIRT1379874	hsa-miR-23a	CLIP-seq
MIRT1379875	hsa-miR-23b	CLIP-seq
MIRT1379876	hsa-miR-23c	CLIP-seq
MIRT1379877	hsa-miR-24	CLIP-seq
MIRT1379878	hsa-miR-2681	CLIP-seq
MIRT1379879	hsa-miR-27a	CLIP-seq
MIRT1379880	hsa-miR-27b	CLIP-seq
MIRT1379881	hsa-miR-2861	CLIP-seq
MIRT1379882	hsa-miR-297	CLIP-seq
MIRT1379883	hsa-miR-299-3p	CLIP-seq
MIRT1379884	hsa-miR-3065-5p	CLIP-seq
MIRT1379885	hsa-miR-30a	CLIP-seq
MIRT1379886	hsa-miR-30b	CLIP-seq
MIRT1379887	hsa-miR-30c	CLIP-seq
MIRT1379888	hsa-miR-30d	CLIP-seq
MIRT1379889	hsa-miR-30e	CLIP-seq
MIRT1379890	hsa-miR-3117-5p	CLIP-seq
MIRT1379891	hsa-miR-3135b	CLIP-seq
MIRT1379892	hsa-miR-3149	CLIP-seq
MIRT1379893	hsa-miR-3163	CLIP-seq
MIRT1379894	hsa-miR-3173-3p	CLIP-seq
MIRT1379895	hsa-miR-3182	CLIP-seq
MIRT1379896	hsa-miR-3187-3p	CLIP-seq
MIRT1379897	hsa-miR-325	CLIP-seq
MIRT1379898	hsa-miR-3607-3p	CLIP-seq
MIRT1379899	hsa-miR-3607-5p	CLIP-seq
MIRT1379900	hsa-miR-3662	CLIP-seq
MIRT1379901	hsa-miR-3686	CLIP-seq
MIRT1379902	hsa-miR-370	CLIP-seq
MIRT1379903	hsa-miR-378	CLIP-seq
MIRT1379904	hsa-miR-378b	CLIP-seq
MIRT1379905	hsa-miR-378c	CLIP-seq
MIRT1379906	hsa-miR-378d	CLIP-seq
MIRT1379907	hsa-miR-378e	CLIP-seq
MIRT1379908	hsa-miR-378f	CLIP-seq
MIRT1379909	hsa-miR-378h	CLIP-seq
MIRT1379910	hsa-miR-378i	CLIP-seq
MIRT1379911	hsa-miR-382	CLIP-seq
MIRT1379912	hsa-miR-3973	CLIP-seq
MIRT1379913	hsa-miR-421	CLIP-seq
MIRT1379914	hsa-miR-422a	CLIP-seq
MIRT1379915	hsa-miR-4263	CLIP-seq
MIRT1379916	hsa-miR-4265	CLIP-seq
MIRT1379917	hsa-miR-4272	CLIP-seq
MIRT1379918	hsa-miR-4275	CLIP-seq
MIRT1379919	hsa-miR-4277	CLIP-seq
MIRT1379920	hsa-miR-4282	CLIP-seq
MIRT1379921	hsa-miR-4284	CLIP-seq
MIRT1379922	hsa-miR-429	CLIP-seq
MIRT1379923	hsa-miR-4296	CLIP-seq
MIRT1379924	hsa-miR-4307	CLIP-seq
MIRT1379925	hsa-miR-4322	CLIP-seq
MIRT1379926	hsa-miR-433	CLIP-seq
MIRT1379927	hsa-miR-4417	CLIP-seq
MIRT1379928	hsa-miR-4434	CLIP-seq
MIRT1379929	hsa-miR-4435	CLIP-seq
MIRT1379930	hsa-miR-4484	CLIP-seq
MIRT1379931	hsa-miR-4515	CLIP-seq
MIRT1379932	hsa-miR-4516	CLIP-seq
MIRT1379933	hsa-miR-4638-3p	CLIP-seq
MIRT1379934	hsa-miR-4645-3p	CLIP-seq
MIRT1379935	hsa-miR-4648	CLIP-seq
MIRT1379936	hsa-miR-4650-5p	CLIP-seq
MIRT1379937	hsa-miR-4654	CLIP-seq
MIRT1379938	hsa-miR-4666-5p	CLIP-seq
MIRT1379939	hsa-miR-4668-5p	CLIP-seq
MIRT1379940	hsa-miR-4680-5p	CLIP-seq
MIRT1379941	hsa-miR-4701-3p	CLIP-seq
MIRT1379942	hsa-miR-4701-5p	CLIP-seq
MIRT1379943	hsa-miR-4704-5p	CLIP-seq
MIRT1379944	hsa-miR-4715-5p	CLIP-seq
MIRT1379945	hsa-miR-4719	CLIP-seq
MIRT1379946	hsa-miR-4720-3p	CLIP-seq
MIRT1379947	hsa-miR-4722-3p	CLIP-seq
MIRT1379948	hsa-miR-4740-5p	CLIP-seq
MIRT1379949	hsa-miR-4753-3p	CLIP-seq
MIRT1379950	hsa-miR-4755-3p	CLIP-seq
MIRT1379951	hsa-miR-4763-5p	CLIP-seq
MIRT1379952	hsa-miR-4768-5p	CLIP-seq
MIRT1379953	hsa-miR-4769-5p	CLIP-seq
MIRT1379954	hsa-miR-4779	CLIP-seq
MIRT1379955	hsa-miR-4782-5p	CLIP-seq
MIRT1379956	hsa-miR-4786-3p	CLIP-seq
MIRT1379957	hsa-miR-4796-5p	CLIP-seq
MIRT1379958	hsa-miR-4799-5p	CLIP-seq
MIRT1379959	hsa-miR-4802-3p	CLIP-seq
MIRT1379960	hsa-miR-4804-3p	CLIP-seq
MIRT1379961	hsa-miR-5096	CLIP-seq
MIRT1379962	hsa-miR-513b	CLIP-seq
MIRT1379963	hsa-miR-514	CLIP-seq
MIRT1379964	hsa-miR-514b-3p	CLIP-seq
MIRT1379965	hsa-miR-516b	CLIP-seq
MIRT1379966	hsa-miR-520d-5p	CLIP-seq
MIRT1379967	hsa-miR-524-5p	CLIP-seq
MIRT1379968	hsa-miR-548k	CLIP-seq
MIRT1379969	hsa-miR-548l	CLIP-seq
MIRT1379970	hsa-miR-548n	CLIP-seq
MIRT1379971	hsa-miR-548s	CLIP-seq
MIRT1379972	hsa-miR-550a	CLIP-seq
MIRT1379973	hsa-miR-567	CLIP-seq
MIRT1379974	hsa-miR-576-5p	CLIP-seq
MIRT1379975	hsa-miR-579	CLIP-seq
MIRT1379976	hsa-miR-583	CLIP-seq
MIRT1379977	hsa-miR-584	CLIP-seq
MIRT1379978	hsa-miR-587	CLIP-seq
MIRT1379979	hsa-miR-588	CLIP-seq
MIRT1379980	hsa-miR-628-3p	CLIP-seq
MIRT1379981	hsa-miR-656	CLIP-seq
MIRT1379982	hsa-miR-660	CLIP-seq
MIRT1379983	hsa-miR-668	CLIP-seq
MIRT1379984	hsa-miR-877	CLIP-seq
MIRT1379985	hsa-miR-9	CLIP-seq
MIRT1553942	hsa-miR-4803	CLIP-seq
MIRT2113530	hsa-miR-1202	CLIP-seq
MIRT2113531	hsa-miR-1238	CLIP-seq
MIRT2113532	hsa-miR-1246	CLIP-seq
MIRT1379862	hsa-miR-1262	CLIP-seq
MIRT2113533	hsa-miR-1271	CLIP-seq
MIRT1379865	hsa-miR-128	CLIP-seq
MIRT2113534	hsa-miR-1290	CLIP-seq
MIRT2113535	hsa-miR-129-5p	CLIP-seq
MIRT2113536	hsa-miR-1305	CLIP-seq
MIRT2113537	hsa-miR-140-3p	CLIP-seq
MIRT2113538	hsa-miR-147	CLIP-seq
MIRT2113539	hsa-miR-148a	CLIP-seq
MIRT2113540	hsa-miR-148b	CLIP-seq
MIRT2113541	hsa-miR-152	CLIP-seq
MIRT2113542	hsa-miR-181a	CLIP-seq
MIRT2113543	hsa-miR-181b	CLIP-seq
MIRT2113544	hsa-miR-181c	CLIP-seq
MIRT2113545	hsa-miR-181d	CLIP-seq
MIRT2113546	hsa-miR-182	CLIP-seq
MIRT2113547	hsa-miR-1910	CLIP-seq
MIRT2113548	hsa-miR-204	CLIP-seq
MIRT2113549	hsa-miR-211	CLIP-seq
MIRT2113550	hsa-miR-217	CLIP-seq
MIRT1379879	hsa-miR-27a	CLIP-seq
MIRT1379880	hsa-miR-27b	CLIP-seq
MIRT1379884	hsa-miR-3065-5p	CLIP-seq
MIRT2113551	hsa-miR-3124-3p	CLIP-seq
MIRT2113552	hsa-miR-3126-3p	CLIP-seq
MIRT2113553	hsa-miR-3128	CLIP-seq
MIRT2113554	hsa-miR-3129-3p	CLIP-seq
MIRT2113555	hsa-miR-3144-5p	CLIP-seq
MIRT2113556	hsa-miR-3151	CLIP-seq
MIRT2113557	hsa-miR-3167	CLIP-seq
MIRT1379895	hsa-miR-3182	CLIP-seq
MIRT2113558	hsa-miR-3185	CLIP-seq
MIRT2113559	hsa-miR-3191	CLIP-seq
MIRT2113560	hsa-miR-3194-5p	CLIP-seq
MIRT2113561	hsa-miR-3198	CLIP-seq
MIRT2113562	hsa-miR-324-5p	CLIP-seq
MIRT2113563	hsa-miR-3591-3p	CLIP-seq
MIRT2113564	hsa-miR-3591-5p	CLIP-seq
MIRT2113565	hsa-miR-3622b-5p	CLIP-seq
MIRT2113566	hsa-miR-3650	CLIP-seq
MIRT2113567	hsa-miR-369-3p	CLIP-seq
MIRT2113568	hsa-miR-374a	CLIP-seq
MIRT2113569	hsa-miR-374b	CLIP-seq
MIRT2113570	hsa-miR-3908	CLIP-seq
MIRT2113571	hsa-miR-3911	CLIP-seq
MIRT2113572	hsa-miR-3972	CLIP-seq
MIRT2113573	hsa-miR-410	CLIP-seq
MIRT1379913	hsa-miR-421	CLIP-seq
MIRT2113574	hsa-miR-4255	CLIP-seq
MIRT2113575	hsa-miR-4260	CLIP-seq
MIRT2113576	hsa-miR-4262	CLIP-seq
MIRT2113577	hsa-miR-4276	CLIP-seq
MIRT1379920	hsa-miR-4282	CLIP-seq
MIRT2113578	hsa-miR-4283	CLIP-seq
MIRT2113579	hsa-miR-4309	CLIP-seq
MIRT2113580	hsa-miR-4317	CLIP-seq
MIRT2113581	hsa-miR-4418	CLIP-seq
MIRT2113582	hsa-miR-4447	CLIP-seq
MIRT2113583	hsa-miR-4455	CLIP-seq
MIRT2113584	hsa-miR-4472	CLIP-seq
MIRT2113585	hsa-miR-4489	CLIP-seq
MIRT2113586	hsa-miR-4493	CLIP-seq
MIRT2113587	hsa-miR-4496	CLIP-seq
MIRT2113588	hsa-miR-4635	CLIP-seq
MIRT1379933	hsa-miR-4638-3p	CLIP-seq
MIRT2113589	hsa-miR-4652-5p	CLIP-seq
MIRT2113590	hsa-miR-4653-3p	CLIP-seq
MIRT2113591	hsa-miR-4658	CLIP-seq
MIRT2113592	hsa-miR-4659a-3p	CLIP-seq
MIRT2113593	hsa-miR-4659b-3p	CLIP-seq
MIRT1379941	hsa-miR-4701-3p	CLIP-seq
MIRT2113594	hsa-miR-4709-3p	CLIP-seq
MIRT2113595	hsa-miR-4720-5p	CLIP-seq
MIRT1379947	hsa-miR-4722-3p	CLIP-seq
MIRT2113596	hsa-miR-4724-5p	CLIP-seq
MIRT2113597	hsa-miR-4735-5p	CLIP-seq
MIRT1379949	hsa-miR-4753-3p	CLIP-seq
MIRT1379950	hsa-miR-4755-3p	CLIP-seq
MIRT2113598	hsa-miR-4758-5p	CLIP-seq
MIRT2113599	hsa-miR-4764-3p	CLIP-seq
MIRT2113600	hsa-miR-4766-5p	CLIP-seq
MIRT2113601	hsa-miR-4775	CLIP-seq
MIRT2113602	hsa-miR-4796-3p	CLIP-seq
MIRT2113603	hsa-miR-4797-5p	CLIP-seq
MIRT2113604	hsa-miR-4799-3p	CLIP-seq
MIRT1379958	hsa-miR-4799-5p	CLIP-seq
MIRT2113605	hsa-miR-491-5p	CLIP-seq
MIRT2113606	hsa-miR-509-3-5p	CLIP-seq
MIRT2113607	hsa-miR-509-5p	CLIP-seq
MIRT2113608	hsa-miR-513a-5p	CLIP-seq
MIRT1379966	hsa-miR-520d-5p	CLIP-seq
MIRT1379967	hsa-miR-524-5p	CLIP-seq
MIRT2113609	hsa-miR-548a-3p	CLIP-seq
MIRT2113610	hsa-miR-548ae	CLIP-seq
MIRT2113611	hsa-miR-548aj	CLIP-seq
MIRT2113612	hsa-miR-548am	CLIP-seq
MIRT2113613	hsa-miR-548e	CLIP-seq
MIRT2113614	hsa-miR-548f	CLIP-seq
MIRT2113615	hsa-miR-548g	CLIP-seq
MIRT1379969	hsa-miR-548l	CLIP-seq
MIRT2113616	hsa-miR-548x	CLIP-seq
MIRT2113617	hsa-miR-552	CLIP-seq
MIRT1379978	hsa-miR-587	CLIP-seq
MIRT2113618	hsa-miR-590-3p	CLIP-seq
MIRT2113619	hsa-miR-609	CLIP-seq
MIRT2113620	hsa-miR-624	CLIP-seq
MIRT2113621	hsa-miR-625	CLIP-seq
MIRT2113622	hsa-miR-644	CLIP-seq
MIRT1379981	hsa-miR-656	CLIP-seq
MIRT2113623	hsa-miR-764	CLIP-seq
MIRT2113624	hsa-miR-876-5p	CLIP-seq
MIRT2113625	hsa-miR-885-3p	CLIP-seq
MIRT2113626	hsa-miR-889	CLIP-seq
MIRT2113627	hsa-miR-942	CLIP-seq
MIRT2113628	hsa-miR-944	CLIP-seq
MIRT2113629	hsa-miR-96	CLIP-seq
MIRT2336540	hsa-miR-101	CLIP-seq
MIRT2113530	hsa-miR-1202	CLIP-seq
MIRT2113532	hsa-miR-1246	CLIP-seq
MIRT1379862	hsa-miR-1262	CLIP-seq
MIRT1379865	hsa-miR-128	CLIP-seq
MIRT1379866	hsa-miR-1287	CLIP-seq
MIRT2113534	hsa-miR-1290	CLIP-seq
MIRT2113537	hsa-miR-140-3p	CLIP-seq
MIRT2113538	hsa-miR-147	CLIP-seq
MIRT2113539	hsa-miR-148a	CLIP-seq
MIRT2113540	hsa-miR-148b	CLIP-seq
MIRT2336541	hsa-miR-151-3p	CLIP-seq
MIRT2113541	hsa-miR-152	CLIP-seq
MIRT2113542	hsa-miR-181a	CLIP-seq
MIRT2113543	hsa-miR-181b	CLIP-seq
MIRT2113544	hsa-miR-181c	CLIP-seq
MIRT2113545	hsa-miR-181d	CLIP-seq
MIRT1379871	hsa-miR-200b	CLIP-seq
MIRT1379872	hsa-miR-200c	CLIP-seq
MIRT2113548	hsa-miR-204	CLIP-seq
MIRT2113549	hsa-miR-211	CLIP-seq
MIRT2113550	hsa-miR-217	CLIP-seq
MIRT1379879	hsa-miR-27a	CLIP-seq
MIRT1379880	hsa-miR-27b	CLIP-seq
MIRT1379881	hsa-miR-2861	CLIP-seq
MIRT1379884	hsa-miR-3065-5p	CLIP-seq
MIRT1379885	hsa-miR-30a	CLIP-seq
MIRT1379886	hsa-miR-30b	CLIP-seq
MIRT1379887	hsa-miR-30c	CLIP-seq
MIRT1379888	hsa-miR-30d	CLIP-seq
MIRT1379889	hsa-miR-30e	CLIP-seq
MIRT1379890	hsa-miR-3117-5p	CLIP-seq
MIRT1379891	hsa-miR-3135b	CLIP-seq
MIRT2336542	hsa-miR-3143	CLIP-seq
MIRT2113555	hsa-miR-3144-5p	CLIP-seq
MIRT2113556	hsa-miR-3151	CLIP-seq
MIRT2113557	hsa-miR-3167	CLIP-seq
MIRT2113558	hsa-miR-3185	CLIP-seq
MIRT2113559	hsa-miR-3191	CLIP-seq
MIRT2113560	hsa-miR-3194-5p	CLIP-seq
MIRT2113561	hsa-miR-3198	CLIP-seq
MIRT2113562	hsa-miR-324-5p	CLIP-seq
MIRT2113564	hsa-miR-3591-5p	CLIP-seq
MIRT1379898	hsa-miR-3607-3p	CLIP-seq
MIRT2113566	hsa-miR-3650	CLIP-seq
MIRT1379901	hsa-miR-3686	CLIP-seq
MIRT1379902	hsa-miR-370	CLIP-seq
MIRT2113570	hsa-miR-3908	CLIP-seq
MIRT2113571	hsa-miR-3911	CLIP-seq
MIRT2336543	hsa-miR-3920	CLIP-seq
MIRT2113572	hsa-miR-3972	CLIP-seq
MIRT1379912	hsa-miR-3973	CLIP-seq
MIRT2336544	hsa-miR-3974	CLIP-seq
MIRT2113573	hsa-miR-410	CLIP-seq
MIRT2113574	hsa-miR-4255	CLIP-seq
MIRT2113575	hsa-miR-4260	CLIP-seq
MIRT2113576	hsa-miR-4262	CLIP-seq
MIRT2113577	hsa-miR-4276	CLIP-seq
MIRT1379919	hsa-miR-4277	CLIP-seq
MIRT2113578	hsa-miR-4283	CLIP-seq
MIRT2336545	hsa-miR-4289	CLIP-seq
MIRT1379922	hsa-miR-429	CLIP-seq
MIRT2113579	hsa-miR-4309	CLIP-seq
MIRT2113580	hsa-miR-4317	CLIP-seq
MIRT2113581	hsa-miR-4418	CLIP-seq
MIRT2113582	hsa-miR-4447	CLIP-seq
MIRT2113583	hsa-miR-4455	CLIP-seq
MIRT2113584	hsa-miR-4472	CLIP-seq
MIRT2113585	hsa-miR-4489	CLIP-seq
MIRT2113587	hsa-miR-4496	CLIP-seq
MIRT2113588	hsa-miR-4635	CLIP-seq
MIRT1379933	hsa-miR-4638-3p	CLIP-seq
MIRT1379936	hsa-miR-4650-5p	CLIP-seq
MIRT2113589	hsa-miR-4652-5p	CLIP-seq
MIRT2113590	hsa-miR-4653-3p	CLIP-seq
MIRT1379941	hsa-miR-4701-3p	CLIP-seq
MIRT1379943	hsa-miR-4704-5p	CLIP-seq
MIRT2113594	hsa-miR-4709-3p	CLIP-seq
MIRT1379947	hsa-miR-4722-3p	CLIP-seq
MIRT2336546	hsa-miR-4760-3p	CLIP-seq
MIRT2113599	hsa-miR-4764-3p	CLIP-seq
MIRT2336547	hsa-miR-4773	CLIP-seq
MIRT2113605	hsa-miR-491-5p	CLIP-seq
MIRT2336548	hsa-miR-495	CLIP-seq
MIRT2113606	hsa-miR-509-3-5p	CLIP-seq
MIRT2113607	hsa-miR-509-5p	CLIP-seq
MIRT1379961	hsa-miR-5096	CLIP-seq
MIRT2336549	hsa-miR-511	CLIP-seq
MIRT2336550	hsa-miR-512-3p	CLIP-seq
MIRT2336551	hsa-miR-543	CLIP-seq
MIRT2113609	hsa-miR-548a-3p	CLIP-seq
MIRT2113613	hsa-miR-548e	CLIP-seq
MIRT2113614	hsa-miR-548f	CLIP-seq
MIRT2113615	hsa-miR-548g	CLIP-seq
MIRT1379969	hsa-miR-548l	CLIP-seq
MIRT2113617	hsa-miR-552	CLIP-seq
MIRT1379977	hsa-miR-584	CLIP-seq
MIRT1379978	hsa-miR-587	CLIP-seq
MIRT2113619	hsa-miR-609	CLIP-seq
MIRT2113620	hsa-miR-624	CLIP-seq
MIRT2113622	hsa-miR-644	CLIP-seq
MIRT1379981	hsa-miR-656	CLIP-seq
MIRT1379982	hsa-miR-660	CLIP-seq
MIRT2336552	hsa-miR-664	CLIP-seq
MIRT2113623	hsa-miR-764	CLIP-seq
MIRT2113624	hsa-miR-876-5p	CLIP-seq
MIRT1379984	hsa-miR-877	CLIP-seq
MIRT2113538	hsa-miR-147	CLIP-seq
MIRT2113555	hsa-miR-3144-5p	CLIP-seq
MIRT2113556	hsa-miR-3151	CLIP-seq
MIRT2113559	hsa-miR-3191	CLIP-seq
MIRT2113571	hsa-miR-3911	CLIP-seq
MIRT2113582	hsa-miR-4447	CLIP-seq
MIRT2113584	hsa-miR-4472	CLIP-seq
MIRT2113589	hsa-miR-4652-5p	CLIP-seq
MIRT2113605	hsa-miR-491-5p	CLIP-seq
MIRT2113617	hsa-miR-552	CLIP-seq
MIRT2113621	hsa-miR-625	CLIP-seq
MIRT2113622	hsa-miR-644	CLIP-seq
MIRT2433364	hsa-miR-451	CLIP-seq
MIRT2433365	hsa-miR-4766-3p	CLIP-seq
MIRT2433366	hsa-miR-548p	CLIP-seq
MIRT2113530	hsa-miR-1202	CLIP-seq
MIRT2113532	hsa-miR-1246	CLIP-seq
MIRT2113534	hsa-miR-1290	CLIP-seq
MIRT2113539	hsa-miR-148a	CLIP-seq
MIRT2113540	hsa-miR-148b	CLIP-seq
MIRT2113541	hsa-miR-152	CLIP-seq
MIRT2113542	hsa-miR-181a	CLIP-seq
MIRT2113543	hsa-miR-181b	CLIP-seq
MIRT2113544	hsa-miR-181c	CLIP-seq
MIRT2113545	hsa-miR-181d	CLIP-seq
MIRT2113557	hsa-miR-3167	CLIP-seq
MIRT2113560	hsa-miR-3194-5p	CLIP-seq
MIRT2113562	hsa-miR-324-5p	CLIP-seq
MIRT2113570	hsa-miR-3908	CLIP-seq
MIRT2113572	hsa-miR-3972	CLIP-seq
MIRT2113576	hsa-miR-4262	CLIP-seq
MIRT2113577	hsa-miR-4276	CLIP-seq
MIRT2113580	hsa-miR-4317	CLIP-seq
MIRT2113624	hsa-miR-876-5p	CLIP-seq
MIRT2113530	hsa-miR-1202	CLIP-seq
MIRT2113532	hsa-miR-1246	CLIP-seq
MIRT1379862	hsa-miR-1262	CLIP-seq
MIRT2630370	hsa-miR-1263	CLIP-seq
MIRT2113534	hsa-miR-1290	CLIP-seq
MIRT2113535	hsa-miR-129-5p	CLIP-seq
MIRT2630371	hsa-miR-1323	CLIP-seq
MIRT2113538	hsa-miR-147	CLIP-seq
MIRT2113539	hsa-miR-148a	CLIP-seq
MIRT2113540	hsa-miR-148b	CLIP-seq
MIRT2113541	hsa-miR-152	CLIP-seq
MIRT2113542	hsa-miR-181a	CLIP-seq
MIRT2113543	hsa-miR-181b	CLIP-seq
MIRT2113544	hsa-miR-181c	CLIP-seq
MIRT2113545	hsa-miR-181d	CLIP-seq
MIRT2113555	hsa-miR-3144-5p	CLIP-seq
MIRT2113556	hsa-miR-3151	CLIP-seq
MIRT2113557	hsa-miR-3167	CLIP-seq
MIRT2113559	hsa-miR-3191	CLIP-seq
MIRT2113560	hsa-miR-3194-5p	CLIP-seq
MIRT2113562	hsa-miR-324-5p	CLIP-seq
MIRT2113563	hsa-miR-3591-3p	CLIP-seq
MIRT2113566	hsa-miR-3650	CLIP-seq
MIRT2113570	hsa-miR-3908	CLIP-seq
MIRT2113571	hsa-miR-3911	CLIP-seq
MIRT2113572	hsa-miR-3972	CLIP-seq
MIRT2113575	hsa-miR-4260	CLIP-seq
MIRT2113576	hsa-miR-4262	CLIP-seq
MIRT2113577	hsa-miR-4276	CLIP-seq
MIRT1379920	hsa-miR-4282	CLIP-seq
MIRT2113578	hsa-miR-4283	CLIP-seq
MIRT2113580	hsa-miR-4317	CLIP-seq
MIRT2113582	hsa-miR-4447	CLIP-seq
MIRT2113583	hsa-miR-4455	CLIP-seq
MIRT2113584	hsa-miR-4472	CLIP-seq
MIRT2113585	hsa-miR-4489	CLIP-seq
MIRT2113586	hsa-miR-4493	CLIP-seq
MIRT2113587	hsa-miR-4496	CLIP-seq
MIRT2113589	hsa-miR-4652-5p	CLIP-seq
MIRT1379941	hsa-miR-4701-3p	CLIP-seq
MIRT1379949	hsa-miR-4753-3p	CLIP-seq
MIRT2113605	hsa-miR-491-5p	CLIP-seq
MIRT2630372	hsa-miR-548o	CLIP-seq
MIRT2113617	hsa-miR-552	CLIP-seq
MIRT2113619	hsa-miR-609	CLIP-seq
MIRT2113621	hsa-miR-625	CLIP-seq
MIRT2630373	hsa-miR-642b	CLIP-seq
MIRT2113622	hsa-miR-644	CLIP-seq
MIRT2113624	hsa-miR-876-5p	CLIP-seq
MIRT2113627	hsa-miR-942	CLIP-seq
MIRT2113628	hsa-miR-944	CLIP-seq
MIRT1379862	hsa-miR-1262	CLIP-seq
MIRT2113535	hsa-miR-129-5p	CLIP-seq
MIRT2630371	hsa-miR-1323	CLIP-seq
MIRT2113538	hsa-miR-147	CLIP-seq
MIRT2113555	hsa-miR-3144-5p	CLIP-seq
MIRT2113556	hsa-miR-3151	CLIP-seq
MIRT2113559	hsa-miR-3191	CLIP-seq
MIRT2113563	hsa-miR-3591-3p	CLIP-seq
MIRT2113566	hsa-miR-3650	CLIP-seq
MIRT2113571	hsa-miR-3911	CLIP-seq
MIRT1379920	hsa-miR-4282	CLIP-seq
MIRT2113582	hsa-miR-4447	CLIP-seq
MIRT2113583	hsa-miR-4455	CLIP-seq
MIRT2113584	hsa-miR-4472	CLIP-seq
MIRT2113586	hsa-miR-4493	CLIP-seq
MIRT2113589	hsa-miR-4652-5p	CLIP-seq
MIRT1379941	hsa-miR-4701-3p	CLIP-seq
MIRT1379949	hsa-miR-4753-3p	CLIP-seq
MIRT2113605	hsa-miR-491-5p	CLIP-seq
MIRT1379963	hsa-miR-514	CLIP-seq
MIRT1379964	hsa-miR-514b-3p	CLIP-seq
MIRT2630372	hsa-miR-548o	CLIP-seq
MIRT2113617	hsa-miR-552	CLIP-seq
MIRT2113619	hsa-miR-609	CLIP-seq
MIRT2113621	hsa-miR-625	CLIP-seq
MIRT2630373	hsa-miR-642b	CLIP-seq
MIRT2113622	hsa-miR-644	CLIP-seq
MIRT2113627	hsa-miR-942	CLIP-seq
MIRT2113628	hsa-miR-944	CLIP-seq

Show/Hide all (65)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001782	Process	B cell homeostasis	IEA
GO:0001942	Process	Hair follicle development	IEA
GO:0002260	Process	Lymphocyte homeostasis	IEA
GO:0002931	Process	Response to ischemia	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003209	Process	Cardiac atrium morphogenesis	IEA
GO:0003344	Process	Pericardium morphogenesis	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	EXP	1371879, 7731718, 16483568
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	1371879
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS	8493579, 9790532
GO:0005096	Function	GTPase activator activity	TAS	9790532
GO:0005154	Function	Epidermal growth factor receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	7527391, 7629138, 7773779, 9020117, 9447984, 9544989, 9569023, 9690470, 10026169, 10206341, 12029088, 12482578, 12577067, 12628188, 14679214, 15507210, 16520382, 17084389, 17141806, 17474147, 17515907, 18454158, 19141281, 19323566, 19380743, 19464300, 20133692, 20473329, 21706016, 21
GO:0005737	Component	Cytoplasm	IDA	17515907
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	23027131
GO:0007165	Process	Signal transduction	NAS	8493579
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	24854121
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IDA	8663461
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	TAS
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007265	Process	Ras protein signal transduction	IBA
GO:0007265	Process	Ras protein signal transduction	IDA	23027131
GO:0007265	Process	Ras protein signal transduction	IEA
GO:0007265	Process	Ras protein signal transduction	TAS	8493579
GO:0007296	Process	Vitellogenesis	IEA
GO:0007411	Process	Axon guidance	TAS
GO:0008286	Process	Insulin receptor signaling pathway	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0014044	Process	Schwann cell development	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019901	Function	Protein kinase binding	IEA
GO:0033081	Process	Regulation of T cell differentiation in thymus	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0042110	Process	T cell activation	IDA	7737275
GO:0042127	Process	Regulation of cell population proliferation	IDA	9054499
GO:0042129	Process	Regulation of T cell proliferation	IEA
GO:0042552	Process	Myelination	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IEA
GO:0048011	Process	Neurotrophin TRK receptor signaling pathway	IEA
GO:0048514	Process	Blood vessel morphogenesis	IEA
GO:0050853	Process	B cell receptor signaling pathway	IEA
GO:0050900	Process	Leukocyte migration	TAS
GO:0051057	Process	Positive regulation of small GTPase mediated signal transduction	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0061029	Process	Eyelid development in camera-type eye	IEA
GO:0061384	Process	Heart trabecula morphogenesis	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0140693	Function	Molecular condensate scaffold activity	IDA	27056844
GO:1904693	Process	Midbrain morphogenesis	IEA
GO:1905360	Component	GTPase complex	IPI	25695162
GO:2000973	Process	Regulation of pro-B cell differentiation	IEA

MIM	HGNC	e!Ensembl
182530	11187	ENSG00000115904

Q07889

Protein name

Son of sevenless homolog 1 (SOS-1)

Protein function

Promotes the exchange of Ras-bound GDP by GTP (PubMed:8493579). Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3/ERK1 in response to EGF (PubMed:17339331). Catalytic component of a trimeric complex that partici

PDB

1AWE , 1BKD , 1DBH , 1NVU , 1NVV , 1NVW , 1NVX , 1Q9C , 1XD2 , 1XD4 , 1XDV , 2II0 , 3KSY , 4NYI , 4NYJ , 4NYM , 4URU , 4URV , 4URW , 4URX , 4URY , 4URZ , 4US0 , 4US1 , 4US2 , 5OVD , 5OVE , 5OVF , 5OVG , 5OVH , 5OVI , 5WFO , 5WFP , 5WFQ , 5WFR , 6BVI , 6BVJ , 6BVK , 6BVL , 6BVM , 6CUO , 6CUP , 6CUR , 6D55 , 6D56 , 6D59 , 6D5E , 6D5G , 6D5H , 6D5J , 6D5L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00125	Histone	40 → 169	Core histone H2A/H2B/H3/H4	Domain
PF00621	RhoGEF	211 → 388	RhoGEF domain	Domain
PF00169	PH	428 → 546	PH domain	Domain
PF00618	RasGEF_N	600 → 717	RasGEF N-terminal motif	Domain
PF00617	RasGEF	783 → 962	RasGEF domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in gingival tissues. {ECO:0000269|PubMed:11868160}.

Sequence

MQAQQLPYEFFSEENAPKWRGLLVPALKKVQGQVHPTLESNDDALQYVEELILQLLNMLC
QAQPRSASDVEERVQKSFPHPIDKWAIADAQSAIEKRKRRNPLSLPVEKIHPLLKEVLGY
KIDHQVSVYIVAVLEYISADILKLVGNYVRNIRHYEITKQDIKVAMCADKVLMDMFHQDV
EDINILSLTDEEPSTSGEQTYYDLVKAFMAEIRQYIRELNLIIKVFREPFVSNSKLFSAN
DVENIFSRIVDIHELSVKLLGHIEDTVEMTDEGSPHPLVGSCFEDLAEELAFDPYESYAR
DILRPGFHDRFLSQLSKPGAALYLQSIGEGFKEAVQYVLPRLLLAPVYHCLHYFELLKQL
EEKSEDQEDKECLKQAITALLNVQSGMEKICSKSLAKRRLSESACRFYSQQMKGKQLAIK
KMNEIQKNIDGWEGKDIGQCCNEFIMEGTLTRVGAKHERHIFLFDGLMICCKSNHGQPRL
PGASNAEYRLKEKFFMRKVQINDKDDTNEYKHAFEIILKDENSVIFSAKSAEEKNNWMAA
LISLQYRSTLERMLDVTMLQEEKEEQMRLPSADVYRFAEPDSEENIIFEENMQPKAGIPI
IKAGTVIKLIERLTYHMYADPNFVRTFLTTYRSFCKPQELLSLIIERFEIPEPEPTEADR
IAIENGDQPLSAELKRFRKEYIQPVQLRVLNVCRHWVEHHFYDFERDAYLLQRMEEFIGT
VRGKAMKKWVESITKIIQRKKIARDNGPGHNITFQSSPPTVEWHISRPGHIETFDLLTLH
PIEIARQLTLLESDLYRAVQPSELVGSVWTKEDKEINSPNLLKMIRHTTNLTLWFEKCIV
ETENLEERVAVVSRIIEILQVFQELNNFNGVLEVVSAMNSSPVYRLDHTFEQIPSRQKKI
LEEAHELSEDHYKKYLAKLRSINPPCVPFFGIYLTNILKTEEGNPEVLKRHGKELINFSK
RRKVAEITGEIQQYQNQPYCLRVESDIKRFFENLNPMGNSMEKEFTDYLFNKSLEIEPRN
PKPLPRFPKKYSYPLKSPGVRPSNPRPGTMRHPTPLQQEPRKISYSRIPESETESTASAP
NSPRTPLTPPPASGASSTTDVCSVFDSDHSSPFHSSNDTVFIQVTLPHGPRSASVSSISL
TKGTDEVPVPPPVPPRRRPESAPAESSPSKIMSKHLDSPPAIPPRQPTSKAYSPRYSISD
RTSISDPPESPPLLPPREPVRTPDVFSSSPLHLQPPPLGKKSDHGNAFFPNSPSPFTPPP
PQTPSPHGTRRHLPSPPLTQEVDLHSIAGPPVPPRQSTSQHIPKLPPKTYKREHTHPSMH
RDGPPLLENAHSS

Sequence length

1333

Interactions

View interactions

	KEGG		Reactome
	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway ErbB signaling pathway Ras signaling pathway Chemokine signaling pathway FoxO signaling pathway Phospholipase D signaling pathway mTOR signaling pathway PI3K-Akt signaling pathway Focal adhesion Gap junction JAK-STAT signaling pathway Natural killer cell mediated cytotoxicity T cell receptor signaling pathway B cell receptor signaling pathway Fc epsilon RI signaling pathway Thermogenesis Neurotrophin signaling pathway Regulation of actin cytoskeleton Insulin signaling pathway GnRH signaling pathway Estrogen signaling pathway Prolactin signaling pathway Relaxin signaling pathway Growth hormone synthesis, secretion and action Alcoholism Hepatitis C Hepatitis B Human cytomegalovirus infection Human papillomavirus infection Pathways in cancer Proteoglycans in cancer MicroRNAs in cancer Chemical carcinogenesis - receptor activation Chemical carcinogenesis - reactive oxygen species Colorectal cancer Renal cell carcinoma Endometrial cancer Glioma Prostate cancer Chronic myeloid leukemia Acute myeloid leukemia Non-small cell lung cancer Breast cancer Hepatocellular carcinoma Gastric cancer Choline metabolism in cancer		SOS-mediated signalling Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants SHC1 events in ERBB4 signaling Signaling by SCF-KIT Regulation of KIT signaling Signalling to RAS GRB2 events in EGFR signaling SHC1 events in EGFR signaling Downstream signal transduction NRAGE signals death through JNK Rho GTPase cycle GRB2 events in ERBB2 signaling Tie2 Signaling EGFR Transactivation by Gastrin DAP12 signaling SHC-related events triggered by IGF1R Role of LAT2/NTAL/LAB on calcium mobilization FCERI mediated MAPK activation FCERI mediated Ca+2 mobilization GRB2:SOS provides linkage to MAPK signaling for Integrins NCAM signaling for neurite out-growth G alpha (12/13) signalling events Constitutive Signaling by EGFRvIII SHC-mediated cascade:FGFR1 FRS-mediated FGFR1 signaling SHC-mediated cascade:FGFR2 FRS-mediated FGFR2 signaling SHC-mediated cascade:FGFR3 FRS-mediated FGFR3 signaling FRS-mediated FGFR4 signaling SHC-mediated cascade:FGFR4 Signaling by FGFR2 in disease Signaling by FGFR4 in disease Signaling by FGFR1 in disease RAF/MAP kinase cascade Signal attenuation Insulin receptor signalling cascade MET activates RAS signaling Signaling by FGFR3 fusions in cancer Signaling by FGFR3 point mutants in cancer RET signaling Interleukin-15 signaling Activated NTRK2 signals through FRS2 and FRS3 Interleukin receptor SHC signaling FLT3 Signaling Constitutive Signaling by Overexpressed ERBB2 Signaling by ERBB2 KD Mutants Signaling by ERBB2 ECD mutants Signaling by ERBB2 TMD/JMD mutants Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants Signaling by PDGFRA extracellular domain mutants Antigen activates B Cell Receptor (BCR) leading to generation of second messengers

2999

Show/Hide Causal Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
46,XY partial gonadal dysgenesis	Likely pathogenic	rs1671229414	RCV002254534
Abnormal aortic valve morphology	Pathogenic	rs397517154	RCV000626887
Abnormal sternum morphology	Likely pathogenic; Pathogenic	rs397517148	RCV000626886
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs397517150, rs137852813, rs137852814, rs397517172, rs397517148, rs397517149, rs397517153, rs397517154, rs267607079, rs397517159, rs397517146	RCV002384544 RCV002415412 RCV002399321 RCV002345263 RCV002415451 RCV004991981 RCV002381284 RCV005438354 RCV004668749 RCV002399361 RCV002399362 RCV002453285 RCV002321513 RCV002381310
Embryonal rhabdomyosarcoma	Likely pathogenic; Pathogenic	rs730881054, rs397517154	RCV006253720 RCV006253721
Fetal cystic hygroma	Likely pathogenic; Pathogenic	rs397517148	RCV001526663
Fibromatosis, gingival, 1	Likely pathogenic; Pathogenic	rs730881044, rs397517150, rs137852812, rs137852814, rs267607079, rs730881054, rs397517148, rs397517149, rs397517154, rs727505381, rs397517159, rs1553354396, rs727505093	RCV003224178 RCV005025241 RCV000515403 RCV000515160 RCV000763086 RCV005025088 RCV003460541 RCV002054543 RCV000763087 RCV001335308 RCV000515298 RCV002496502 RCV000763085 RCV002248825 RCV003224124 RCV001196815
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs886041696	RCV003991599
Male subfertility	Likely pathogenic; Pathogenic	rs397517150	RCV003991573
Monogenic short statue	Pathogenic	rs137852812	RCV005865178
Neonatal hypotonia	Pathogenic	rs397517172	RCV001526618
Noonan syndrome	Likely pathogenic; Pathogenic	rs397517150, rs137852812, rs137852813, rs137852814, rs267607079, rs267607080, rs730881054, rs397517164, rs397517172, rs397517147, rs397517148, rs727504295, rs397517149, rs730881045, rs397517153 View all (11 more)	RCV001261079 RCV000038570 RCV000211854 RCV000156980 RCV000156992 RCV000211853 RCV001261068 RCV000038546 RCV000038560 RCV000208414 RCV000038513 RCV000038514 RCV000154314 RCV000038515 RCV001261087 RCV000038520 RCV004017276 RCV000208093 RCV000157017 RCV000038525 RCV000156979 RCV000038531 RCV000038535 RCV000038510 RCV000038516 RCV000038544 RCV000038562 RCV000038575 RCV000826185 RCV001261089 RCV001261084
Noonan syndrome 1	Pathogenic; Likely pathogenic	rs137852812, rs137852813, rs267607079, rs397517147, rs397517148, rs397517149, rs397517153, rs397517154, rs727505093, rs1572830219	RCV003450637 RCV000856805 RCV000856746 RCV003150936 RCV003450658 RCV000856735 RCV003450659 RCV003150937 RCV003450660 RCV000856745 RCV000856753 RCV000986623
Noonan syndrome 3	Pathogenic; Likely pathogenic	rs397517154, rs574088829	RCV000587705 RCV000587797
Noonan syndrome 4	Likely pathogenic; Pathogenic	rs397517150, rs397517180, rs2124562542, rs730881044, rs1553362937, rs137852812, rs137852813, rs137852814, rs267607079, rs267607080, rs1057519963, rs730881054, rs397517164, rs397517172, rs397517147 View all (14 more)	RCV002468240 RCV001808257 RCV002264900 RCV003224178 RCV002467633 RCV003335797 RCV000013729 RCV000013730 RCV000013731 RCV000013732 RCV000013733 RCV003322604 RCV002467898 RCV005025088 RCV004795339 RCV001729357 RCV000487454 RCV002467509 RCV002467510 RCV001270835 RCV002467511 RCV000763087 RCV002467514 RCV002467515 RCV001507015 RCV001169984 RCV000515298 RCV002467518 RCV000495874 RCV002051800 RCV000763085 RCV006250817 RCV002467539 RCV002467540 RCV002255093 RCV003313978 RCV001200895
Noonan syndrome and Noonan-related syndrome	Pathogenic; Likely pathogenic	rs267607079, rs137852814, rs397517164, rs137852813, rs397517147, rs397517148, rs397517149, rs397517154, rs397517159, rs397517150, rs397517174, rs397517180, rs727505093	RCV000787998 RCV000787999 RCV001813280 RCV001813283 RCV001813285 RCV001813286 RCV001813287 RCV000787996 RCV001813288 RCV000787997 RCV001813296 RCV001813354 RCV000788003 RCV001813362 RCV000788001
Ptosis	Likely pathogenic; Pathogenic	rs397517148	RCV000626886
Pulmonic stenosis	Likely pathogenic; Pathogenic	rs397517148	RCV000626886
RASopathy	Likely pathogenic; Pathogenic	rs397517150, rs137852812, rs2124596942, rs267607080, rs549952317, rs2529037375, rs2465361618, rs137852813, rs137852814, rs267607079, rs2529037917, rs757094189, rs1553362937, rs730881054, rs397517164 View all (15 more)	RCV001377878 RCV002015524 RCV002022149 RCV003655354 RCV001379728 RCV002933811 RCV002996470 RCV003043174 RCV000149833 RCV000554031 RCV000159174 RCV000654947 RCV000818949 RCV003540045 RCV003654654 RCV005090664 RCV000544063 RCV000545153 RCV000537356 RCV000476014 RCV000539275 RCV000467110 RCV001217212 RCV000159179 RCV000781878 RCV000534974 RCV000654915 RCV001381689 RCV000550001 RCV000685882 RCV000528274 RCV001062868 RCV000149832 RCV000817385 RCV001045366 RCV001233419 RCV000471633 RCV000821113 RCV000474085 RCV001852808
See cases	Pathogenic	rs267607079	RCV003128391
Short stature	Likely pathogenic; Pathogenic	rs397517148	RCV000626886
SOS1-related disorder	Pathogenic; Likely pathogenic	rs397517172, rs397517153, rs397517154, rs574088829, rs397517159	RCV003914900 RCV003398589 RCV003390718 RCV003407395 RCV003421942

Show/Hide Unknown Diseases (31)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs8192671, rs145155424, rs186640807	RCV005888902 RCV005890001 RCV005890010
Arrhythmogenic right ventricular cardiomyopathy	Benign	rs56219475	RCV000852770
Atrial septal defect	Uncertain significance	rs730880218	RCV000157508
Brugada syndrome	Conflicting classifications of pathogenicity	rs727504641	RCV003448272
Cafe au lait spots, multiple	Uncertain significance	rs730880218	RCV000157508
Cardiomyopathy	Benign	rs140811086	RCV000852769
Cervical cancer	Benign; Likely benign	rs61601281	RCV005892820
Cholangiocarcinoma	Benign; Likely benign	rs61601281	RCV005892825
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs397517157	RCV005890011
Familial cancer of breast	Benign	rs8192671, rs145155424	RCV005888901 RCV005890000
Familial pancreatic carcinoma	Benign	rs145155424	RCV005890003
Gastric cancer	Benign; Likely benign	rs778223456, rs61601281, rs145155424	RCV005925082 RCV005892821 RCV005890005
Gingival fibromatosis	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	rs587781172, rs3832123, rs34248802, rs377250198, rs886056010, rs35969619, rs533720751, rs886056021, rs144104838, rs886056005, rs886056011, rs767903412, rs886056018, rs200892895, rs572584074, rs886056007, rs761591990, rs886056016 View all (3 more)	RCV000324479 RCV000334114 RCV000271859 RCV000299986 RCV000385207 RCV000394292 RCV000280019 RCV000276397 RCV000356097 RCV000359148 RCV000345886 RCV000395195 RCV000404974 RCV000294975 RCV000385696 RCV000303575 RCV000379433 RCV000306632
Glioma susceptibility 1	Conflicting classifications of pathogenicity	rs758546951	RCV005900983
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs141565234	RCV005888905
Hypertrophic cardiomyopathy	Benign	rs140811086, rs183998234	RCV000852769 RCV000852768
Intellectual disability	Conflicting classifications of pathogenicity; Benign	rs765028553, rs142004123	RCV005625470 RCV005624719
Joubert syndrome 3	Benign	rs140811086	RCV001258236
Lung cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	rs180918477, rs145155424, rs1671005559	RCV005919168 RCV005890009 RCV005909271
Lymphoma	Benign	rs145155424	RCV005890006
Malignant tumor of esophagus	Likely benign	rs180918477	RCV005919165
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs141565234	RCV005888904
Nonpapillary renal cell carcinoma	Benign	rs145155424	RCV005890002
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	rs180918477, rs61601281, rs779326746, rs8192671, rs145155424	RCV005919167 RCV005892822 RCV005896183 RCV005888903 RCV005890007
Primary dilated cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs1669494952, rs369277679, rs758699499, rs886041241, rs140811086, rs200794965, rs752395541, rs1175436231	RCV001543369 RCV001543367 RCV001543366 RCV001543363 RCV000852769 RCV001543368 RCV001543370 RCV000853116
Primary familial hypertrophic cardiomyopathy	Uncertain significance	rs397517168	RCV000157509
Sarcoma	Likely benign; Benign	rs180918477, rs145155424	RCV005919166 RCV005890004
Thymoma	Benign; Likely benign	rs61601281, rs145155424	RCV005892824 RCV005890008
Uterine carcinosarcoma	Benign; Likely benign	rs61601281	RCV005892823
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs145166996	RCV005895016
Ventricular tachycardia	Conflicting classifications of pathogenicity	rs201352584	RCV000852537

Show/Hide Text Mining Associations (69)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma	Associate	27494611
Akesson syndrome	Associate	35986401
Arthritis Rheumatoid	Associate	39342401
Baetz Greenwalt syndrome	Associate	28009100
Breast Neoplasms	Associate	24434436
Burnett Schwartz Berberian syndrome	Associate	17586837
Carcinogenesis	Associate	30355600
Carcinoma Giant Cell	Associate	19352411, 25073238
Carcinoma Hepatocellular	Associate	25980493, 28713927
Carcinoma Pancreatic Ductal	Associate	28608476
Carcinoma Renal Cell	Associate	32413671
Cardiomyopathies	Associate	33549576
Cardiomyopathy Dilated	Associate	31024045, 32603605
Cardiomyopathy Hypertrophic	Associate	22585553, 29696744, 30732632
Colorectal Neoplasms	Associate	29693170, 36459180
Congenital Abnormalities	Associate	22585553, 36849876
Corticobasal Degeneration	Associate	26077951
COVID 19	Associate	32307550
Cryptorchidism	Associate	29752777
Death	Associate	36267302
Developmental Disabilities	Associate	30355600, 36849876
Diabetes Gestational	Associate	29233017
Diabetes Mellitus	Associate	14551916
Diabetes Mellitus Type 2	Associate	14551916, 28812028, 39342401
Disorder of Sex Development 46 XY	Associate	39285472
Dwarfism Pituitary	Associate	27651465
Ectodermal Dysplasia	Associate	17586837, 21387466, 35986401
Endometrial Neoplasms	Associate	33381557
Epilepsy Familial Mesial Temporal Lobe	Associate	37126322
Fibromatosis Gingival	Associate	11868160
Fibromatosis Gingival Hereditary	Associate	11868160, 17510059, 28425619, 28686854, 35142290
Gingival Diseases	Associate	31743516
Gingival Overgrowth	Associate	17510059
Heart Defects Congenital	Associate	33549576
Heart Diseases	Associate	33549576
Hemorrhage	Associate	34857025
Hernia Inguinal	Associate	31910207
Hydrops Fetalis	Associate	36959127
Hypertrophy	Associate	11868160
Jensen syndrome	Associate	29948256
Laron Syndrome	Associate	34136918
Learning Disabilities	Associate	32788663
LEOPARD Syndrome	Associate	22585553
Leukemia Myeloid Acute	Associate	32609259
Lung Diseases	Associate	27158780
Melanoma	Associate	27304678
Multiple Endocrine Neoplasia Type 2b	Associate	37303040
Myelodysplastic Syndromes	Inhibit	26521017
Neoplasm Metastasis	Associate	21800289, 31488087, 33402468, 33946672
Neoplasms	Associate	25071181, 27304678, 28586047, 30039904, 32816843, 32897190, 34715892, 35275451
Neoplasms Basal Cell	Associate	25921176
Neurofibromatosis 1	Associate	22585553
Nonsyndromic Holoprosencephaly	Associate	27494611
Noonan like syndrome	Associate	19352411
Noonan Syndrome	Associate	17586837, 18854871, 19077116, 19352411, 20186801, 20543023, 21387466, 22253195, 23487764, 25073238, 25712082, 27304678, 28009100, 29907801, 30039904 View all (13 more)
Osteoarthritis	Associate	34856957
Osteosarcoma	Associate	35645100
Ovarian Neoplasms	Associate	31488087
Plasmablastic Lymphoma	Associate	37105495
Prostate Cancer Hereditary 7	Associate	19724911
Prostatic Neoplasms	Associate	19724911
Prostatitis	Associate	19724911
Pulmonary edema of mountaineers	Associate	24465776
Pulmonary Valve Stenosis	Associate	28009100
Stomach Neoplasms	Associate	29686309
Syndrome	Associate	25073238
Urinary Bladder Neoplasms	Associate	25921176, 36140796, 40226549
Uterine Cervical Neoplasms	Associate	27581326
Uveal melanoma	Associate	36267302

SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1)