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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8831
Gene name Gene Name - the full gene name approved by the HGNC.	Synaptic Ras GTPase activating protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SYNGAP1
Synonyms (NCBI Gene) Gene synonyms aliases	MRD5, RASA1, RASA5, SYNGAP
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p21.32
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Mental retardation	Intellectual disability, autosomal dominant 5, Intellectual disability, autosomal recessive 5, intellectual disability	rs1562869207, rs1554121970, rs587780474, rs1581992998, rs1554119814, rs879253762, rs1060503383, rs397515320, rs1777175608, rs1561787845, rs1581987022, rs1554121228, rs797045012, rs1057518352, rs1581995453 View all (87 more)	N/A
seizure	Seizure	rs1554122080	N/A
Epilepsy	Autosomal dominant epilepsy	rs397514670	N/A
Epileptic encephalopathy	epileptic encephalopathy	rs1057519545	N/A

Show/Hide Unknown Diseases (8)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Developmental Delay	global developmental delay	N/A	N/A	ClinVar
Insomnia	Insomnia	N/A	N/A	GWAS
Myoclonic-Astatic Epilepsy	myoclonic-astatic epilepsy	N/A	N/A	GenCC
Neurodevelopmental Disorders	complex neurodevelopmental disorder	N/A	N/A	GenCC
Non-Syndromic Intellectual Disability	autosomal dominant non-syndromic intellectual disability	N/A	N/A	GenCC
Psoriasis	Psoriasis	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus	N/A	N/A	GWAS

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)