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	8831
Gene name	Synaptic Ras GTPase activating protein 1
Gene symbol	SYNGAP1
Synonyms (NCBI Gene)	MRD5RASA1RASA5SYNGAP
Chromosome	6
Chromosome location	6p21.32
Summary	This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121918315	A>T	Pathogenic	Stop gained, coding sequence variant
rs121918316	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs397514670	C>T	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397514741	C>T	Pathogenic	Coding sequence variant, stop gained
rs397515320	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs587780470	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587780474	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs749188610	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs786205649	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs797045012	A>C,G	Pathogenic	Splice acceptor variant
rs797046029	TCTCCA>C	Pathogenic	Frameshift variant, coding sequence variant
rs797046030	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs797046031	G>T	Pathogenic	Splice donor variant
rs869312674	G>A,C	Conflicting-interpretations-of-pathogenicity, pathogenic	Intron variant
rs869312677	TTGGCAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs869312955	C>T	Pathogenic	Stop gained, coding sequence variant
rs875989808	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs879253762	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518178	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057518352	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057518786	G>A	Likely-pathogenic	Synonymous variant, coding sequence variant
rs1057518796	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057519400	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519405	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519545	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519546	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1060503383	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1060503384	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1060503386	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064792984	CAGCTCAGCAAGGTCAGCAGATCCCC>-	Likely-pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1064795331	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795645	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064796033	T>-	Pathogenic	Stop gained, coding sequence variant
rs1064796403	G>A	Pathogenic	Stop gained, coding sequence variant
rs1064796547	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064797322	G>A	Likely-pathogenic	Splice donor variant
rs1085307871	C>T	Pathogenic	Stop gained, coding sequence variant
rs1131691635	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131691979	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131692154	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1135401805	C>T	Pathogenic	Stop gained, coding sequence variant
rs1395368098	T>C,G	Likely-pathogenic	Splice donor variant
rs1448169616	C>A,G	Likely-pathogenic	Intron variant
rs1485749468	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1554119814	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554120489	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554120498	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1554120589	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1554120894	A>G	Pathogenic	Splice acceptor variant
rs1554120939	->CACA	Pathogenic	Coding sequence variant, frameshift variant
rs1554120966	->GT	Pathogenic	Coding sequence variant, frameshift variant
rs1554120978	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554121671	->AGGA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554121685	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1554121729	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554121861	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554121970	G>A,T	Pathogenic	Splice donor variant
rs1554122179	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554122196	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554122200	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554122242	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554122252	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554122276	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554122289	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554122293	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554122296	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1554122305	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554122341	TCAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554122348	G>AA	Pathogenic	Coding sequence variant, frameshift variant
rs1554122363	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554122402	G>A	Pathogenic	Splice donor variant
rs1554122457	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554122458	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554122689	G>A	Pathogenic	Intron variant
rs1554122710	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554122729	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554122735	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554122888	G>T	Pathogenic	Stop gained, coding sequence variant
rs1554304254	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554304258	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561781989	G>A	Pathogenic	Splice donor variant
rs1561783309	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1561787690	GTCCACTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561787845	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1561788965	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1561788984	CCTCAACAGCAGCAGTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561789215	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561789313	GGTCCCCCAGGCGGCCATGGAGGGGGCGGTGGCCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562869207	G>A	Likely-pathogenic	Splice acceptor variant
rs1581980317	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581991929	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581992099	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581992998	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1581995425	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581995453	->AC	Pathogenic	Coding sequence variant, frameshift variant
rs1581995609	AGC>G	Pathogenic	Coding sequence variant, frameshift variant
rs1581995953	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581996778	->GCAGCGGTGGGGGTGGCGGGGG	Pathogenic	Coding sequence variant, frameshift variant
rs1581996813	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581997098	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581997228	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581998105	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1582001015	->A	Pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT040627	hsa-miR-92b-3p	CLASH	23622248
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	19536157
MIRT612588	hsa-miR-629-5p	HITS-CLIP	19536157
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	19536157
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	19536157
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	19536157
MIRT612584	hsa-miR-525-5p	HITS-CLIP	19536157
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	19536157
MIRT612582	hsa-miR-4265	HITS-CLIP	19536157
MIRT612581	hsa-miR-4296	HITS-CLIP	19536157
MIRT612580	hsa-miR-4322	HITS-CLIP	19536157
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	19536157
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	19536157
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	19536157
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT612588	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	23824327
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT612584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT612582	hsa-miR-4265	HITS-CLIP	23824327
MIRT612581	hsa-miR-4296	HITS-CLIP	23824327
MIRT612580	hsa-miR-4322	HITS-CLIP	23824327
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	23824327
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	23824327
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT612588	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	23824327
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT612584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT612582	hsa-miR-4265	HITS-CLIP	23824327
MIRT612581	hsa-miR-4296	HITS-CLIP	23824327
MIRT612580	hsa-miR-4322	HITS-CLIP	23824327
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	23824327
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	23824327
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT612588	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	23824327
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT612584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT612582	hsa-miR-4265	HITS-CLIP	23824327
MIRT612581	hsa-miR-4296	HITS-CLIP	23824327
MIRT612580	hsa-miR-4322	HITS-CLIP	23824327
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	23824327
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	23824327
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT612588	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	23824327
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT612584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT612582	hsa-miR-4265	HITS-CLIP	23824327
MIRT612581	hsa-miR-4296	HITS-CLIP	23824327
MIRT612580	hsa-miR-4322	HITS-CLIP	23824327
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	23824327
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	23824327
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT439499	hsa-miR-487a-3p	HITS-CLIP	24374217
MIRT439499	hsa-miR-487a-3p	HITS-CLIP	24374217
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	19536157
MIRT612588	hsa-miR-629-5p	HITS-CLIP	19536157
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	19536157
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	19536157
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	19536157
MIRT612584	hsa-miR-525-5p	HITS-CLIP	19536157
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	19536157
MIRT612582	hsa-miR-4265	HITS-CLIP	19536157
MIRT612581	hsa-miR-4296	HITS-CLIP	19536157
MIRT612580	hsa-miR-4322	HITS-CLIP	19536157
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	19536157
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	19536157
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	19536157
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT612588	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	23824327
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT612584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT612582	hsa-miR-4265	HITS-CLIP	23824327
MIRT612581	hsa-miR-4296	HITS-CLIP	23824327
MIRT612580	hsa-miR-4322	HITS-CLIP	23824327
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	23824327
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	23824327
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT612588	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	23824327
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT612584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT612582	hsa-miR-4265	HITS-CLIP	23824327
MIRT612581	hsa-miR-4296	HITS-CLIP	23824327
MIRT612580	hsa-miR-4322	HITS-CLIP	23824327
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	23824327
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	23824327
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT612588	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	23824327
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT612584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT612582	hsa-miR-4265	HITS-CLIP	23824327
MIRT612581	hsa-miR-4296	HITS-CLIP	23824327
MIRT612580	hsa-miR-4322	HITS-CLIP	23824327
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	23824327
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	23824327
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT612589	hsa-miR-6758-3p	HITS-CLIP	23824327
MIRT612588	hsa-miR-629-5p	HITS-CLIP	23824327
MIRT612587	hsa-miR-6748-5p	HITS-CLIP	23824327
MIRT612586	hsa-miR-6793-5p	HITS-CLIP	23824327
MIRT612585	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT612584	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT612583	hsa-miR-6839-3p	HITS-CLIP	23824327
MIRT612582	hsa-miR-4265	HITS-CLIP	23824327
MIRT612581	hsa-miR-4296	HITS-CLIP	23824327
MIRT612580	hsa-miR-4322	HITS-CLIP	23824327
MIRT612579	hsa-miR-6796-5p	HITS-CLIP	23824327
MIRT612578	hsa-miR-6759-5p	HITS-CLIP	23824327
MIRT612577	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT1405795	hsa-miR-101	CLIP-seq
MIRT1405796	hsa-miR-1225-3p	CLIP-seq
MIRT1405797	hsa-miR-1233	CLIP-seq
MIRT1405798	hsa-miR-1252	CLIP-seq
MIRT1405799	hsa-miR-1255a	CLIP-seq
MIRT1405800	hsa-miR-1255b	CLIP-seq
MIRT1405801	hsa-miR-1321	CLIP-seq
MIRT1405802	hsa-miR-144	CLIP-seq
MIRT1405803	hsa-miR-147b	CLIP-seq
MIRT1405804	hsa-miR-190	CLIP-seq
MIRT1405805	hsa-miR-1908	CLIP-seq
MIRT1405806	hsa-miR-190b	CLIP-seq
MIRT1405807	hsa-miR-210	CLIP-seq
MIRT1405808	hsa-miR-2113	CLIP-seq
MIRT1405809	hsa-miR-296-3p	CLIP-seq
MIRT1405810	hsa-miR-3154	CLIP-seq
MIRT1405811	hsa-miR-3180	CLIP-seq
MIRT1405812	hsa-miR-3180-3p	CLIP-seq
MIRT1405813	hsa-miR-3184	CLIP-seq
MIRT1405814	hsa-miR-3190	CLIP-seq
MIRT1405815	hsa-miR-3196	CLIP-seq
MIRT1405816	hsa-miR-3201	CLIP-seq
MIRT1405817	hsa-miR-3202	CLIP-seq
MIRT1405818	hsa-miR-329	CLIP-seq
MIRT1405819	hsa-miR-342-5p	CLIP-seq
MIRT1405820	hsa-miR-3605-5p	CLIP-seq
MIRT1405821	hsa-miR-361-3p	CLIP-seq
MIRT1405822	hsa-miR-362-3p	CLIP-seq
MIRT1405823	hsa-miR-3689a-3p	CLIP-seq
MIRT1405824	hsa-miR-3689c	CLIP-seq
MIRT1405825	hsa-miR-3689d	CLIP-seq
MIRT1405826	hsa-miR-3919	CLIP-seq
MIRT1405827	hsa-miR-3943	CLIP-seq
MIRT1405828	hsa-miR-423-5p	CLIP-seq
MIRT1405829	hsa-miR-4313	CLIP-seq
MIRT1405830	hsa-miR-4419a	CLIP-seq
MIRT1405831	hsa-miR-4476	CLIP-seq
MIRT1405832	hsa-miR-4510	CLIP-seq
MIRT1405833	hsa-miR-4533	CLIP-seq
MIRT1405834	hsa-miR-4640-5p	CLIP-seq
MIRT1405835	hsa-miR-4651	CLIP-seq
MIRT1405836	hsa-miR-4663	CLIP-seq
MIRT1405837	hsa-miR-4664-5p	CLIP-seq
MIRT1405838	hsa-miR-4690-3p	CLIP-seq
MIRT1405839	hsa-miR-4712-3p	CLIP-seq
MIRT1405840	hsa-miR-4716-3p	CLIP-seq
MIRT1405841	hsa-miR-4723-5p	CLIP-seq
MIRT1405842	hsa-miR-4726-5p	CLIP-seq
MIRT1405843	hsa-miR-4728-5p	CLIP-seq
MIRT1405844	hsa-miR-4739	CLIP-seq
MIRT1405845	hsa-miR-4756-5p	CLIP-seq
MIRT1405846	hsa-miR-4791	CLIP-seq
MIRT1405847	hsa-miR-4797-5p	CLIP-seq
MIRT1405848	hsa-miR-608	CLIP-seq
MIRT1405849	hsa-miR-663	CLIP-seq
MIRT2121652	hsa-miR-1275	CLIP-seq
MIRT2121653	hsa-miR-1296	CLIP-seq
MIRT2121654	hsa-miR-1915	CLIP-seq
MIRT2121655	hsa-miR-2467-3p	CLIP-seq
MIRT2121656	hsa-miR-2964a-5p	CLIP-seq
MIRT2121657	hsa-miR-3150a-3p	CLIP-seq
MIRT1405810	hsa-miR-3154	CLIP-seq
MIRT2121658	hsa-miR-3163	CLIP-seq
MIRT2121659	hsa-miR-3175	CLIP-seq
MIRT2121660	hsa-miR-3179	CLIP-seq
MIRT2121661	hsa-miR-3192	CLIP-seq
MIRT2121662	hsa-miR-3199	CLIP-seq
MIRT1405817	hsa-miR-3202	CLIP-seq
MIRT2121663	hsa-miR-3612	CLIP-seq
MIRT1405821	hsa-miR-361-3p	CLIP-seq
MIRT2121664	hsa-miR-4282	CLIP-seq
MIRT1405829	hsa-miR-4313	CLIP-seq
MIRT2121665	hsa-miR-4434	CLIP-seq
MIRT2121666	hsa-miR-4447	CLIP-seq
MIRT2121667	hsa-miR-4472	CLIP-seq
MIRT2121668	hsa-miR-4505	CLIP-seq
MIRT2121669	hsa-miR-4516	CLIP-seq
MIRT2121670	hsa-miR-4652-5p	CLIP-seq
MIRT2121671	hsa-miR-4665-5p	CLIP-seq
MIRT2121672	hsa-miR-4688	CLIP-seq
MIRT1405841	hsa-miR-4723-5p	CLIP-seq
MIRT1405843	hsa-miR-4728-5p	CLIP-seq
MIRT2121673	hsa-miR-486-3p	CLIP-seq
MIRT2121674	hsa-miR-491-5p	CLIP-seq
MIRT2121675	hsa-miR-513a-3p	CLIP-seq
MIRT2121676	hsa-miR-592	CLIP-seq
MIRT2121677	hsa-miR-597	CLIP-seq
MIRT2121678	hsa-miR-650	CLIP-seq
MIRT2121679	hsa-miR-892a	CLIP-seq
MIRT2121680	hsa-miR-939	CLIP-seq
MIRT1405798	hsa-miR-1252	CLIP-seq
MIRT2121657	hsa-miR-3150a-3p	CLIP-seq
MIRT2121659	hsa-miR-3175	CLIP-seq
MIRT2121661	hsa-miR-3192	CLIP-seq
MIRT1405819	hsa-miR-342-5p	CLIP-seq
MIRT2343682	hsa-miR-4270	CLIP-seq
MIRT2343683	hsa-miR-4274	CLIP-seq
MIRT1405830	hsa-miR-4419a	CLIP-seq
MIRT2343684	hsa-miR-4441	CLIP-seq
MIRT2121666	hsa-miR-4447	CLIP-seq
MIRT2121667	hsa-miR-4472	CLIP-seq
MIRT2343685	hsa-miR-4481	CLIP-seq
MIRT2121668	hsa-miR-4505	CLIP-seq
MIRT1405832	hsa-miR-4510	CLIP-seq
MIRT1405835	hsa-miR-4651	CLIP-seq
MIRT1405837	hsa-miR-4664-5p	CLIP-seq
MIRT1405843	hsa-miR-4728-5p	CLIP-seq
MIRT2343686	hsa-miR-4745-5p	CLIP-seq
MIRT2121674	hsa-miR-491-5p	CLIP-seq
MIRT1405848	hsa-miR-608	CLIP-seq
MIRT2121680	hsa-miR-939	CLIP-seq
MIRT1405829	hsa-miR-4313	CLIP-seq
MIRT1405830	hsa-miR-4419a	CLIP-seq
MIRT1405832	hsa-miR-4510	CLIP-seq
MIRT1405843	hsa-miR-4728-5p	CLIP-seq
MIRT2460968	hsa-miR-3162-3p	CLIP-seq
MIRT2460969	hsa-miR-4780	CLIP-seq
MIRT2637390	hsa-miR-297	CLIP-seq
MIRT2121662	hsa-miR-3199	CLIP-seq
MIRT2637391	hsa-miR-4278	CLIP-seq
MIRT2637392	hsa-miR-4525	CLIP-seq
MIRT1405840	hsa-miR-4716-3p	CLIP-seq
MIRT2637393	hsa-miR-567	CLIP-seq
MIRT2637390	hsa-miR-297	CLIP-seq
MIRT2121662	hsa-miR-3199	CLIP-seq
MIRT2637391	hsa-miR-4278	CLIP-seq
MIRT2637392	hsa-miR-4525	CLIP-seq
MIRT1405840	hsa-miR-4716-3p	CLIP-seq
MIRT2692484	hsa-miR-4740-5p	CLIP-seq
MIRT2637393	hsa-miR-567	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	30021884, 32296183, 36950384, 37207277
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0007265	Process	Ras protein signal transduction	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0008542	Process	Visual learning	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0016358	Process	Dendrite development	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0043113	Process	Receptor clustering	IEA
GO:0043198	Component	Dendritic shaft	IEA
GO:0043408	Process	Regulation of MAPK cascade	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0046580	Process	Negative regulation of Ras protein signal transduction	IEA
GO:0046580	Process	Negative regulation of Ras protein signal transduction	ISS
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0048169	Process	Regulation of long-term neuronal synaptic plasticity	IEA
GO:0050771	Process	Negative regulation of axonogenesis	IEA
GO:0050803	Process	Regulation of synapse structure or activity	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0098880	Process	Maintenance of postsynaptic specialization structure	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1902531	Process	Regulation of intracellular signal transduction	IBA

MIM	HGNC	e!Ensembl
603384	11497	ENSG00000197283

Q96PV0

Protein name

Ras/Rap GTPase-activating protein SynGAP (Neuronal RasGAP) (Synaptic Ras GTPase-activating protein 1) (Synaptic Ras-GAP 1)

Protein function

Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses, it may play a role in NMDAR-dependent control of AMPAR potentiation, A

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00168	C2	262 → 365	C2 domain	Domain
PF00616	RasGAP	464 → 541	GTPase-activator protein for Ras-like GTPase	Family
PF00616	RasGAP	532 → 635	GTPase-activator protein for Ras-like GTPase	Family
PF12004	DUF3498	718 → 1313	Domain of unknown function (DUF3498)	Family

Sequence

MSRSRASIHRGSIPAMSYAPFRDVRGPSMHRTQYVHSPYDRPGWNPRFCIISGNQLLMLD
EDEIHPLLIRDRRSESSRNKLLRRTVSVPVEGRPHGEHEYHLGRSRRKSVPGGKQYSMEG
APAAPFRPSQGFLSRRLKSSIKRTKSQPKLDRTSSFRQILPRFRSADHDRARLMQSFKES
HSHESLLSPSSAAEALELNLDEDSIIKPVHSSILGQEFCFEVTTSSGTKCFACRSAAERD
KWIENLQRAVKPNKDNSRRVDNVLKLWIIEARELPPKKRYYCELCLDDMLYARTTSKPRS
ASGDTVFWGEHFEFNNLPAVRALRLHLYRDSDKKRKKDKAGYVGLVTVPVATLAGRHFTE
QWYPVTLPTGSGGSGGMGSGGGGGSGGGSGGKGKGGCPAVRLKARYQTMSILPMELYKEF
AEYVTNHYRMLCAVLEPALNVKGKEEVASALVHILQSTGKAKDFLSDMAMSEVDRFMERE
HLIFRENTLATKAIEEYMRLIGQKYLKDAIGEFIRALYESEENCEVDPIKCTASSLAEHQ
ANLRMCCELALCKVVNSHCVFPRELKEVFASWRLRCAERGREDIADRLISASLFLRFLCP
AIMSPSLFGLMQEYPDEQTSRTLTLIAKVIQNLANFSKFTSKEDFLGFMNEFLELEWGSM
QQFLYEISNLDTLTNSSSFEGYIDLGRELSTLHALLWEVLPQLSKEALLKLGPLPRLLND
ISTALRNPNIQRQPSRQSERPRPQPVVLRGPSAEMQGYMMRDLNSSIDLQSFMARGLNSS
MDMARLPSPTKEKPPPPPPGGGKDLFYVSRPPLARSSPAYCTSSSDITEPEQKMLSVNKS
VSMLDLQGDGPGGRLNSSSVSNLAAVGDLLHSSQASLTAALGLRPAPAGRLSQGSGSSIT
AAGMRLSQMGVTTDGVPAQQLRIPLSFQNPLFHMAADGPGPPGGHGGGGGHGPPSSHHHH
HHHHHHRGGEPPGDTFAPFHGYSKSEDLSSGVPKPPAASILHSHSYSDEFGPSGTDFTRR
QLSLQDNLQHMLSPPQITIGPQRPAPSGPGGGSGGGSGGGGGGQPPPLQRGKSQQLTVSA
AQKPRPSSGNLLQSPEPSYGPARPRQQSLSKEGSIGGSGGSGGGGGGGLKPSITKQHSQT
PSTLNPTMPASERTVAWVSNMPHLSADIESAHIEREEYKLKEYSKSMDESRLDRVKEYEE
EIHSLKERLHMSNRKLEEYERRLLSQEEQTSKILMQYQARLEQSEKRLRQQQAEKDSQIK
SIIGRLMLVEEELRRDHPAMAEPLPEPKKRLLDAQERQLPPLGPTNPRVTLAPPWNGLAP
PAPPPPPRLQITENGEFRNTADH

Sequence length

1343

Interactions

View interactions

	KEGG		Reactome
	Ras signaling pathway		Regulation of RAS by GAPs

1458

Show/Hide Causal Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Absent speech	Likely pathogenic	rs1057518796	RCV000414895
Atypical behavior	Likely pathogenic	rs1554121671	RCV000626900
Autosomal dominant epilepsy	Likely pathogenic; Pathogenic	rs397514670	RCV003156067
Cerebellar ataxia	Likely pathogenic	rs1057518796	RCV000414895
Complex neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs869312955, rs1057518352, rs1060503386, rs749188610, rs1554121970, rs1554120978, rs397514670, rs1554122689, rs397514741, rs1554122400, rs1760893537, rs1760935231, rs1554122402, rs1777196665, rs1554122455	RCV001265530 RCV001265346 RCV001265347 RCV001265349 RCV001265155 RCV001265351 RCV001265525 RCV001265158 RCV001265523 RCV001265524 RCV001265527 RCV001265157 RCV001265156 RCV001265529 RCV001265348
Delayed speech and language development	Likely pathogenic	rs1554121671	RCV000626900
Developmental disorder	Pathogenic	rs1554122252	RCV003126874
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs1057519545, rs1581998105	RCV000416992 RCV001003591
Global developmental delay	Likely pathogenic	rs1057518796, rs1554121671	RCV000414895 RCV000626900
Infantile epilepsy syndrome	Pathogenic	rs1131691979	RCV001265345
Infantile epileptic dyskinetic encephalopathy	Pathogenic	rs1554122689	RCV001824853
Intellectual disability	Likely pathogenic; Pathogenic	rs1554122249, rs2151190588, rs2151202533, rs869312674, rs1131692154, rs1554121970, rs1761049027, rs1554121202, rs1760905358	RCV001526635 RCV001526524 RCV001526590 RCV000224644 RCV005621955 RCV001260864 RCV001255374 RCV001260777 RCV001260877
Intellectual disability, autosomal dominant 5	Pathogenic; Likely pathogenic	rs1777299176, rs1760931697, rs1400108198, rs767126748, rs2151161955, rs2151170996, rs2151180361, rs1554304655, rs1776941586, rs2151168473, rs2151169133, rs371883908, rs2151172286, rs1554121684, rs2151183929 View all (245 more)	RCV001331640 RCV001330300 RCV001376009 RCV001377168 RCV001379232 RCV001379189 RCV001378478 RCV001382704 RCV001388698 RCV001388600 RCV001389382 RCV001390702 RCV001385049 RCV001381135 RCV001383669 RCV001384526 RCV001386416 RCV001381313 RCV002568842 RCV002568206 RCV002250764 RCV004594368 RCV001706830 RCV001706870 RCV001807893 RCV001808059 RCV001869805 RCV001843837 RCV001881498 RCV000118565 RCV000118568 RCV001978997 RCV001906281 RCV001950965 RCV001992394 RCV001898242 RCV001960092 RCV002007246 RCV001957450 RCV002002948 RCV001941619 RCV001953409 RCV001913005 RCV001958567 RCV002033106 RCV001949478 RCV001927667 RCV001941288 RCV002045000 RCV002074482 RCV002249187 RCV002249188 RCV002246754 RCV002246755 RCV002267701 RCV002271975 RCV002272999 RCV002273207 RCV005095984 RCV002288375 RCV002294934 RCV002308499 RCV002465459 RCV002468802 RCV002468803 RCV002471725 RCV002471729 RCV002470207 RCV002470293 RCV003093781 RCV004763428 RCV003112783 RCV000190512 RCV002796170 RCV000193233 RCV000193516 RCV000194556 RCV000194044 RCV002852775 RCV002880865 RCV002881417 RCV002858538 RCV002894349 RCV002847140 RCV002871105 RCV002852037 RCV002885306 RCV002967893 RCV000198471 RCV000006764 RCV000006765 RCV000006766 RCV003013785 RCV003014481 RCV003027322 RCV003033794 RCV003055213 RCV003036208 RCV003043892 RCV003049945 RCV000209920 RCV000209949 RCV000679896 RCV003110187 RCV003142488 RCV003149155 RCV003615931 RCV000234890 RCV003224999 RCV003234751 RCV003335800 RCV003405049 RCV005100310 RCV005100311 RCV003508273 RCV003508144 RCV003508259 RCV003508294 RCV003508790 RCV003507725 RCV003506993 RCV003507825 RCV003615994 RCV003616241 RCV003616475 RCV003616528 RCV003616526 RCV003616866 RCV003616891 RCV003616884 RCV003616922 RCV003616925 RCV003615598 RCV003842907 RCV003988804 RCV003988805 RCV003988806 RCV003988807 RCV003988808 RCV003988809 RCV003988810 RCV003988811 RCV004526385 RCV005933651 RCV004593655 RCV004595736 RCV000496106 RCV003615837 RCV001198243 RCV000417030 RCV000417100 RCV000417098 RCV000476459 RCV000457705 RCV000470395 RCV000477576 RCV003615842 RCV000689750 RCV001205064 RCV000496165 RCV000499432 RCV000503187 RCV000503272 RCV000505188 RCV001853685 RCV000537489 RCV000535060 RCV000534618 RCV000680115 RCV000032868 RCV000585865 RCV000590939 RCV000034345 RCV000034346 RCV000034347 RCV000034348 RCV003985402 RCV001090141 RCV001050171 RCV000626018 RCV000645738 RCV003862441 RCV000645730 RCV000645731 RCV000645739 RCV000660522 RCV000677430 RCV000680114 RCV000693257 RCV000705614 RCV000698578 RCV000690613 RCV000687566 RCV000688563 RCV000697308 RCV000692134 RCV000707018 RCV000696570 RCV000699423 RCV000760259 RCV000760232 RCV000760192 RCV004017727 RCV003987694 RCV004527398 RCV000787271 RCV000816375 RCV000806993 RCV000803610 RCV000817612 RCV000796727 RCV000818376 RCV000796202 RCV000816226 RCV000797147 RCV000802785 RCV000799582 RCV000812055 RCV000800967 RCV000824112 RCV000054513 RCV000984979 RCV000987679 RCV000987680 RCV000987681 RCV000987683 RCV001031012 RCV001004693 RCV001004682 RCV001004689 RCV001004731 RCV001043667 RCV001064969 RCV001034746 RCV001070985 RCV001069599 RCV001089537 RCV001390342 RCV001873452 RCV001095641 RCV001175141 RCV001199157 RCV001223893 RCV001219537 RCV001202268 RCV001207862 RCV001203980 RCV001203203 RCV001202586 RCV001204347 RCV001223942 RCV001230329 RCV001229415 RCV001234123 RCV001248110 RCV001249694 RCV001250746 RCV001252123 RCV001252124 RCV001252125 RCV001253508 RCV001253736 RCV001257343 RCV001260588 RCV003225964 RCV001871641 RCV001300335
Intellectual disability, autosomal recessive 5	Pathogenic	rs1131692154	RCV000495902
Microcephaly	Pathogenic	rs1581998105	RCV001003591
Motor delay	Likely pathogenic	rs1554121671	RCV000626900
Neurodevelopmental delay	Pathogenic	rs1060503386	RCV002274036
Neurodevelopmental disorder	Pathogenic	rs2151168879	RCV001374936
See cases	Likely pathogenic; Pathogenic	rs1060503383	RCV003128403
Seizure	Likely pathogenic; Pathogenic	rs2537391376, rs1060503386, rs1581987268, rs1554122080	RCV004547423 RCV005624401 RCV005624430 RCV004546599
SYNGAP1-related disorder	Pathogenic; Likely pathogenic	rs2151168473, rs869312674, rs2537371206, rs2537445488, rs2537450886, rs1064797322, rs1554121970, rs1581987902	RCV004550100 RCV004547504 RCV004550787 RCV004550610 RCV004548974 RCV004551600 RCV003987580 RCV003987760
SYNGAP1-related encephalopathy	Likely pathogenic; Pathogenic	rs2151172748	RCV001822991

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs9969005, rs41270541	RCV005915197 RCV005920306
Cervical cancer	Likely benign; Benign	rs116172817, rs9969005	RCV005916045 RCV005915199
Gastric cancer	Benign	rs9969005, rs139133669, rs572784864	RCV005915201 RCV005919551 RCV005925897
Generalized hypotonia	Conflicting classifications of pathogenicity	rs1057518786	RCV000415313
Hereditary ataxia	Conflicting classifications of pathogenicity	rs1405483444	RCV005626417
Lung cancer	Benign	rs9969005	RCV005915205
Malignant tumor of esophagus	Benign	rs9969005, rs41270541	RCV005915198 RCV005920307
Marfanoid habitus and intellectual disability	Uncertain significance	rs147668681	RCV000850459
Nonpapillary renal cell carcinoma	Benign	rs761691865	RCV005934960
Ovarian serous cystadenocarcinoma	Benign	rs9969005	RCV005915202
Preauricular skin tag	Conflicting classifications of pathogenicity	rs1057518786	RCV000415313
Sarcoma	Likely benign; Benign	rs116172817, rs9969005	RCV005916046 RCV005915200
Stereotypic movement disorder	Conflicting classifications of pathogenicity	rs1057518786	RCV000415313
Thymoma	Benign	rs9969005	RCV005915204
Thyroid cancer, nonmedullary, 1	Likely benign	rs759449351	RCV005906968
Uterine carcinosarcoma	Benign	rs9969005	RCV005915203
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs116172817, rs9969005, rs139133669, rs41270541	RCV005916047 RCV005915206 RCV005919552 RCV005920308

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	39311700
Amyotrophic Lateral Sclerosis	Associate	36261283
Ataxia	Associate	30541864
Autism Spectrum Disorder	Associate	30541864, 31395010, 32887745, 33308442, 34948243, 35576811, 35655128, 35773312
Autistic Disorder	Associate	20531469, 25167861, 25418537, 27897003, 28576131, 31395010, 35205412, 37146502, 39311700
Brain Diseases	Associate	23708187, 29190809, 32887745
Cognition Disorders	Associate	32887745
Constipation	Associate	26079862, 28576131
Developmental Disabilities	Associate	26079862, 27086544, 28867142, 31395010, 32887745
Disease	Associate	37385133
Epilepsies Myoclonic	Associate	22050443
Epilepsy	Associate	26079862, 28576131, 29190809, 30541864, 31395010, 33308442, 35655128, 39311700
Epilepsy Absence	Associate	31395010
Epilepsy Generalized	Associate	22050443, 31401500
Epileptic Encephalopathy Early Infantile 3	Associate	30541864, 30556619, 37867425
Eyelid Diseases	Associate	30541864, 38088023
Facial Dysmorphism with Multiple Malformations	Associate	28576131
Feeding and Eating Disorders	Associate	30541864
Gait Ataxia	Associate	28576131
Gait Disorders Neurologic	Associate	30541864
Growth Disorders	Associate	28576131
Hip Dislocation	Associate	26079862
Intellectual Disability	Associate	21119708, 22050443, 26079862, 28576131, 30541864, 31395010, 33308442, 33937973, 34358384, 35655128, 39311700
Keratitis Dendritic	Associate	36261283
Language Development Disorders	Associate	28576131, 35655128
Mental Disorders	Associate	30541864
Mental Retardation Autosomal Dominant 5	Associate	36183676, 37385133
Mental Retardation with Spastic Paraplegia	Associate	37534867
Mental Retardation X Linked Nonsyndromic	Associate	19196676
Mental retardation X linked syndromic 5	Associate	36183676, 37385133
Mental Retardation X Linked Syndromic Christianson Type	Associate	34653234
Microcephaly	Associate	28576131
Motor Skills Disorders	Associate	35655128
Muscle Hypotonia	Associate	26079862
Myoclonic dystonia	Associate	35773312
Neoplasms	Associate	39311700
Neurologic Manifestations	Associate	39311700
Pediatric acute onset neuropsychiatric syndrome	Associate	35773312
Personality Disorders	Associate	26079862, 28576131, 31395010
Schizophrenia	Associate	33308442
Seizures	Associate	21119708, 25418537, 26079862, 30541864, 31401500, 32887745
Sexual Dysfunctions Psychological	Associate	30541864
Sleep Wake Disorders	Associate	26079862, 28576131
Social Communication Disorder	Associate	32887745
Speech Disorders	Associate	22050443
Strabismus	Associate	26079862
Syncope	Associate	26079862

SYNGAP1 (synaptic Ras GTPase activating protein 1)