AiPD: Autoinhibited Protein Database

Q86SS6

Gene name	SYT9
Protein name	Synaptotagmin-9
Names	Synaptotagmin IX, SytIX
Species	Homo sapiens (Human)
KEGG Pathway	hsa:143425
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

60-246 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

60-246 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q86SS6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q86SS6-F1	Predicted				AlphaFoldDB

375 variants for Q86SS6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA217169955 rs949004498	3	G>R		No	ClinGen Ensembl
rs1589886308 CA379832079	3	G>V		No	ClinGen Ensembl
CA379832082 rs747985314	4	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5865646 rs747985314	4	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA379832086 rs1396817880	5	R>G		No	ClinGen gnomAD
CA379832098 rs1363390130	6	D>E		No	ClinGen gnomAD
CA217169961 rs1026108525	6	D>G		No	ClinGen Ensembl
CA379832100 rs1199765711	7	A>T		No	ClinGen gnomAD
rs117532647 CA5865647	7	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1298926255 CA379832108	8	L>P		No	ClinGen gnomAD
CA217169965 rs964642461	8	L>V		No	ClinGen TOPMed
CA379832120 rs1425531285	10	H>Y		No	ClinGen gnomAD
CA379832129 rs1367946684	11	Q>L		No	ClinGen gnomAD
rs1254899373 CA379832139	12	A>V		No	ClinGen gnomAD
CA379832149 rs1322935068	14	Q>R		No	ClinGen TOPMed
CA379832161 rs1290212980	16	L>Q		No	ClinGen TOPMed
CA379832166 rs749543472	17	A>D		No	ClinGen ExAC TOPMed gnomAD
rs749543472 CA5865649	17	A>V		No	ClinGen ExAC TOPMed gnomAD
rs954342561 CA217169973	19	L>F		No	ClinGen TOPMed gnomAD
CA379832176 rs954342561	19	L>I		No	ClinGen TOPMed gnomAD
CA379832182 rs1188936389	20	C>R		No	ClinGen gnomAD
CA379832196 rs1452493137	22	R>C		No	ClinGen gnomAD
CA379832198 rs1198151366	22	R>H		No	ClinGen TOPMed gnomAD
rs1351674483 CA379832211	24	A>V		No	ClinGen TOPMed
CA217169979 rs963546722	25	L>R		No	ClinGen TOPMed gnomAD
CA379832228 rs1386759613	27	H>P		No	ClinGen gnomAD
CA379832229 rs1386759613	27	H>R		No	ClinGen gnomAD
rs1174497328 CA379832227	27	H>Y		No	ClinGen gnomAD
rs964555192 CA217169983	28	D>E		No	ClinGen Ensembl
rs1464631528 CA379832244	29	S>T		No	ClinGen gnomAD
CA379832264 rs1321607866	32	D>N		No	ClinGen gnomAD
CA379832281 rs1421275895	34	I>V		No	ClinGen TOPMed
CA217169988 rs760024648	35	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA5865652 rs760024648	35	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs768044784 CA5865653	36	H>Y		No	ClinGen ExAC gnomAD
rs927559642 CA217169993	37	L>P		No	ClinGen TOPMed
rs146068689 CA5865654	37	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA217169996 rs115391316	38	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764482819 CA5865656	39	D>N		No	ClinGen ExAC gnomAD
CA379832318 rs1203435493	40	R>P		No	ClinGen TOPMed
rs1022203332 CA217170000	41	A>T		No	ClinGen Ensembl
rs758043224 CA5865658	42	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5865659 rs376791191	43	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1200919364 CA379832338	44	R>Q		No	ClinGen TOPMed
CA379832337 rs1209101322	44	R>W		No	ClinGen gnomAD
rs751034956 CA5865660	45	L>F		No	ClinGen ExAC
CA379832349 rs1318967212	46	R>H		No	ClinGen TOPMed
CA5865661 rs754901376	47	D>H		No	ClinGen ExAC gnomAD
CA5865662 rs781298906	48	P>S		No	ClinGen ExAC gnomAD
CA379833437 rs762599599	49	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1231852633 CA379832364	49	D>N		No	ClinGen gnomAD
rs762599599 CA5865675	49	D>V		No	ClinGen ExAC TOPMed gnomAD
rs765977411 CA5865676	50	I>T		No	ClinGen ExAC gnomAD
CA379833465 rs1409941125	53	S>R		No	ClinGen gnomAD
rs1183109539 CA379833487	57	L>P		No	ClinGen gnomAD
rs754510681 CA5865678	58	V>L		No	ClinGen ExAC gnomAD
CA379833493 rs1589927991	59	V>I		No	ClinGen Ensembl
TCGA novel	59	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1006187618 CA217187809	60	T>A		No	ClinGen TOPMed
COSM1703539 rs752671031 CA5865680	60	T>I	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1323345880 CA379833505	61	A>S		No	ClinGen gnomAD
CA379833512 rs1226011058	62	C>Y		No	ClinGen gnomAD
CA379833522 rs1273864761	63	G>V		No	ClinGen TOPMed gnomAD
CA5865682 rs777649430	65	A>P		No	ClinGen ExAC gnomAD
rs1564853733 CA379833546	67	F>L		No	ClinGen Ensembl
CA379833548 rs1372671992	68	G>S		No	ClinGen TOPMed
CA5865686 rs778982022	69	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA217187891 rs982227091	73	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5865689 rs376590070	78	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs376590070 CA5865690	78	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA379833626 rs1431007691	79	W>C		No	ClinGen gnomAD
rs1254822058 CA379833628	80	V>I		No	ClinGen TOPMed
CA5865693 rs554348328	81	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs866659412 CA217187914	83	R>*		No	ClinGen gnomAD
rs567812209 CA5865695	83	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1296659677 CA379833660	85	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs773842068 CA5865697	85	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5865698 rs759325666	86	G>R		No	ClinGen ExAC TOPMed gnomAD
CA379833667 rs1229126989	86	G>V		No	ClinGen TOPMed
CA5865700 rs752262079	89	S>P		No	ClinGen ExAC gnomAD
rs760652874 CA5865701	89	S>Y		No	ClinGen ExAC gnomAD
CA217187926 rs913030240	92	K>E		No	ClinGen TOPMed gnomAD
CA379833698 rs913030240	92	K>Q		No	ClinGen TOPMed gnomAD
rs1187046696 CA379833705	93	D>N		No	ClinGen gnomAD
rs763964385 CA5865702	94	N>K		No	ClinGen ExAC gnomAD
CA379833720 rs1450633677	95	N>H		No	ClinGen gnomAD
TCGA novel	96	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs927753555 CA217187955	96	Q>R		No	ClinGen Ensembl
rs753864324 CA5865703	99	L>I		No	ClinGen ExAC gnomAD
CA5865705 rs778837379	101	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs756970618 CA5865704	101	Y>N		No	ClinGen ExAC gnomAD
CA217187986 rs947356900	102	M>I		No	ClinGen TOPMed
CA379833771 rs1382127838	102	M>T		No	ClinGen Ensembl
CA5865706 rs750631573	102	M>V		No	ClinGen ExAC gnomAD
CA379833800 rs758631982	106	T>N		No	ClinGen ExAC TOPMed gnomAD
CA5865707 rs758631982	106	T>S		No	ClinGen ExAC TOPMed gnomAD
CA379833803 rs1467974321	107	N>D		No	ClinGen TOPMed gnomAD
rs780040782 CA5865708	107	N>S		No	ClinGen ExAC gnomAD
CA217187993 rs144734191	109	Q>K		No	ClinGen ESP TOPMed gnomAD
rs373528671 CA5865710	112	S>N		No	ClinGen ExAC gnomAD
rs148454232 CA217187995	113	E>D		No	ClinGen ESP TOPMed gnomAD
rs1054802519 CA217187997	115	F>L		No	ClinGen TOPMed
CA379833877 rs1589928317	117	D>A		No	ClinGen Ensembl
CA379833881 rs4412741 CA379833880	117	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1325893840 CA379833875	117	D>H		No	ClinGen gnomAD
rs942359954 CA217188005	118	P>L		No	ClinGen TOPMed gnomAD
CA5865712 rs147636620	120	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA379833902 rs1564853964	121	P>L		No	ClinGen Ensembl
CA5865713 rs770047793	121	P>S		No	ClinGen ExAC gnomAD
CA5865715 rs372836186	126	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA217188060 rs998044055	127	M>V		No	ClinGen TOPMed gnomAD
CA379833945 rs1589928395	128	K>Q		No	ClinGen Ensembl
CA379833950 rs1157974616	128	K>R		No	ClinGen gnomAD
rs771886106 CA5865716	129	I>V		No	ClinGen ExAC gnomAD
CA379833960 rs1402260751	130	S>C		No	ClinGen gnomAD
rs1030810915 CA217188074	130	S>T		No	ClinGen Ensembl
rs1564853995 CA379833970	131	H>R		No	ClinGen Ensembl
rs1303557397 CA379834017	138	L>P		No	ClinGen TOPMed
rs753717207 CA5865720	140	T>I		No	ClinGen ExAC gnomAD
rs1234576363 CA379834027	140	T>S		No	ClinGen TOPMed
CA217188119 rs954796343	141	Q>P		No	ClinGen TOPMed
rs200034628 CA5865721	142	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs200034628 CA379834040	142	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750221195 CA5865723	143	G>R		No	ClinGen ExAC gnomAD
CA379834043 rs750221195	143	G>W		No	ClinGen ExAC gnomAD
rs758578945 CA5865724	144	I>V		No	ClinGen ExAC gnomAD
rs1288217781 CA379834076	147	N>K		No	ClinGen gnomAD
CA5865726 rs751825510	148	C>S		No	ClinGen ExAC gnomAD
rs888600685 CA217188141	150	H>L		No	ClinGen TOPMed gnomAD
CA5865729 rs748586095	152	V>A		No	ClinGen ExAC gnomAD
rs779476138 CA5865728	152	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5865731 COSM1267313 rs202241519	153	R>C	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5865732 COSM1510075 rs748814240	153	R>H	lung Variant assessed as Somatic; 9.967e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs202241519 CA217188156	153	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379834114 rs1165412849	154	V>G		No	ClinGen gnomAD
rs78477754 VAR_065760 CA5865734	154	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA379834122 rs1367459073	155	Q>H		No	ClinGen gnomAD
rs147763195 CA5865735	156	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs112800487 CA5865736	156	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379834142 rs1336542464	159	T>A		No	ClinGen TOPMed gnomAD
CA5865738 rs761588573	160	E>D		No	ClinGen ExAC TOPMed gnomAD
rs776220190 CA5865737	160	E>V		No	ClinGen ExAC gnomAD
rs764531466 CA217188180	163	S>L		No	ClinGen Ensembl
CA5865741 rs202101566	164	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5865740 rs772943028	164	S>P		No	ClinGen ExAC gnomAD
CA379834172 rs202101566	164	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1251960611 CA379834179	165	A>V		No	ClinGen gnomAD
rs573786868 CA5865746	166	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573786868 CA5865745	166	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5865744 rs141139646	166	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769235952 CA5865758	171	R>*		No	ClinGen ExAC TOPMed gnomAD
CA379834223 rs769235952	171	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5865759 rs773098666	171	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1476449358 CA379834253	175	N>S		No	ClinGen gnomAD
rs1401738243 CA379834261	176	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1366108572 CA379834259	176	L>S		No	ClinGen TOPMed
COSM3791924 CA217193745 rs377386547	177	S>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
CA5865765 rs150311683	179	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150311683 CA5865766	179	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1434938522 CA379834282	180	D>Y		No	ClinGen gnomAD
rs764336108 CA5865769	182	N>S		No	ClinGen ExAC TOPMed gnomAD
CA379834309 rs1273786566	183	I>M		No	ClinGen gnomAD
CA379834306 rs1230471482	183	I>N		No	ClinGen TOPMed gnomAD
CA5865770 rs754383902	188	K>N		No	ClinGen ExAC TOPMed gnomAD
rs779355365 CA5865772	190	E>G		No	ClinGen ExAC gnomAD
CA5865773 rs750829512	191	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs199793093 CA5865774	191	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1589936957 CA379834371	192	L>S		No	ClinGen Ensembl
CA379834369 rs1263793401	192	L>V		No	ClinGen gnomAD
rs769285781 CA5865777	195	I>T		No	ClinGen ExAC gnomAD
rs749162841 CA5865779	196	G>A		No	ClinGen ExAC gnomAD
rs1393992614 CA379834403	197	R>S		No	ClinGen TOPMed
rs1178869592 CA379834407	198	I>V		No	ClinGen gnomAD
CA5865780 rs770856520	200	P>L		No	ClinGen ExAC gnomAD
CA5865781 rs773970887	201	E>Q		No	ClinGen ExAC gnomAD
rs1387754445 CA379834429	201	E>V		No	ClinGen gnomAD
CA379834443 rs1385656150	203	Y>C		No	ClinGen gnomAD
rs759356843 CA5865782	204	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	205	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1224894640 CA379834457	205	Q>P		No	ClinGen gnomAD
rs550522235 CA217193843	206	R>K		No	ClinGen TOPMed
TCGA novel	206	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379834464 rs550522235	206	R>T		No	ClinGen TOPMed
CA379834512 rs548666564	212	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs568579361 CA217193881 COSM169993 CA379834514	213	G>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed
CA217193882 rs1045486676	214	R>T		No	ClinGen Ensembl
CA5865788 rs753974212	215	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs188796269 COSM179750 CA5865787	215	R>W	large_intestine central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA379834529 rs1266690425	216	S>G		No	ClinGen gnomAD
CA379834542 rs1301908262	217	N>K		No	ClinGen TOPMed
CA379834546 rs1408975209	218	S>N		No	ClinGen TOPMed
rs762368065 CA5865789	221	C>Y		No	ClinGen ExAC gnomAD
rs748590912 CA5865791	223	K>E		No	ClinGen ExAC gnomAD
CA5865792 COSM429824 rs758758067	227	I>V	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5865794 rs752377707	233	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1489615809 CA379834673	236	Q>K		No	ClinGen TOPMed gnomAD
CA379834691 rs1247555748	238	I>M		No	ClinGen gnomAD
rs755773370 CA5865795	238	I>T		No	ClinGen ExAC gnomAD
VAR_065761 rs1001166978 CA217193903	238	I>V		No	ClinGen UniProt TOPMed dbSNP gnomAD
CA5865796 rs777195009	242	H>Q		No	ClinGen ExAC gnomAD
rs1027305421 CA217193933	242	H>R		No	ClinGen Ensembl
CA217193943 rs267603183	245	V>I		No	ClinGen Ensembl
rs867547770 CA217193946	248	P>S		No	ClinGen Ensembl
CA5865798 COSM218352 rs374567594	249	A>T	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs778882538 CA5865799	250	K>R		No	ClinGen ExAC gnomAD
CA217193976 rs1015162268	251	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	258	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760914374 CA5865803	260	V>I		No	ClinGen ExAC gnomAD
rs1483481769 CA379834838	261	K>E		No	ClinGen TOPMed
CA379834850 rs1224791658	262	I>M		No	ClinGen TOPMed gnomAD
rs769032258 CA5865804	263	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA379834883 rs1347285892	267	D>E		No	ClinGen TOPMed
rs765447258 CA5865807	268	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5865806 COSM2017032 rs138467146	268	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	271	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5865808 rs190886211	272	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1422464324 CA379834912	272	H>Y		No	ClinGen TOPMed gnomAD
CA379834933 rs1427151878	275	K>E		No	ClinGen gnomAD
CA217194028 rs1052670147	275	K>N		No	ClinGen TOPMed gnomAD
CA5865809 rs763423511	277	H>R		No	ClinGen ExAC TOPMed gnomAD
CA5865810 rs766704584	278	R>G		No	ClinGen ExAC gnomAD
rs773917206 CA217194054	279	K>N		No	ClinGen Ensembl
rs1376647871 CA379834985	283	P>A		No	ClinGen TOPMed gnomAD
TCGA novel	283	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	283	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1226182506 CA379835010	286	D>E		No	ClinGen gnomAD
CA5865812 rs751872066	288	V>M		No	ClinGen ExAC gnomAD
TCGA novel	289	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5865815 rs753531614	291	F>L		No	ClinGen ExAC gnomAD
CA5865816 rs756760236	292	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA379835062 rs1446959308	294	P>L		No	ClinGen gnomAD
CA5865818 rs745762028	294	P>S		No	ClinGen ExAC gnomAD
rs1177758904 CA379835066	295	Y>C		No	ClinGen TOPMed
CA379835078 rs1428626618	296	N>K		No	ClinGen gnomAD
CA379835074 rs1418084422	296	N>S		No	ClinGen gnomAD
CA379835090 rs1172023426	298	L>H		No	ClinGen gnomAD
CA379835092 rs1172023426	298	L>P		No	ClinGen gnomAD
rs1357054265 CA379835099	299	E>D		No	ClinGen gnomAD
CA217194085 rs867764176	300	A>T		No	ClinGen Ensembl
CA379835105 rs1465272321	300	A>V		No	ClinGen gnomAD
CA379835108 rs746820472	301	R>L		No	ClinGen ExAC gnomAD
rs746820472 CA5865821	301	R>Q		No	ClinGen ExAC gnomAD
CA5865820 rs779860275	301	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA379835128 rs1361296895	304	H>L		No	ClinGen gnomAD
rs773175125 CA379835163	309	D>G		No	ClinGen ExAC TOPMed gnomAD
CA5865826 rs773175125	309	D>V		No	ClinGen ExAC TOPMed gnomAD
CA5865828 rs766823621	312	R>K		No	ClinGen ExAC gnomAD
rs774890538 CA5865829	312	R>S		No	ClinGen ExAC gnomAD
CA217194148 rs954139260	313	F>L		No	ClinGen gnomAD
rs1207342243 CA379835202	315	R>C		No	ClinGen TOPMed gnomAD
CA379835201 rs1207342243	315	R>G		No	ClinGen TOPMed gnomAD
CA5865830 COSM247686 rs202199041	315	R>H	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs370160285 CA217194196	321	Q>R		No	ClinGen ESP gnomAD
CA217194230 rs201087730	324	V>A		No	ClinGen 1000Genomes
rs1431102275 CA379835262	324	V>L		No	ClinGen gnomAD
rs764738315 CA5865834	325	D>N		No	ClinGen ExAC gnomAD
rs1326911072 CA379835276	326	H>R		No	ClinGen TOPMed
rs749934841 CA5865835	327	F>L		No	ClinGen ExAC gnomAD
rs1432887252 CA379835290	328	L>P		No	ClinGen gnomAD
CA379835288 rs1345681759	328	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs865861319 CA217194270	334	P>L		No	ClinGen Ensembl
rs1284204149 CA379835331	334	P>S		No	ClinGen gnomAD
rs1226920414 CA379835352	337	C>Y		No	ClinGen gnomAD
CA379835363 rs1282034269	338	I>M		No	ClinGen TOPMed
CA379835366 rs1246597064	339	L>F		No	ClinGen TOPMed
rs1284062638 CA379835367	339	L>H		No	ClinGen gnomAD
CA217194276 rs1053382303	343	I>V		No	ClinGen Ensembl
rs1050139597 COSM1228351 CA217194294	344	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA379835426 rs1319252844	347	T>S		No	ClinGen TOPMed
rs1244403991 CA379835432	348	N>S		No	ClinGen gnomAD
rs1023903075 CA217266714	349	D>A		No	ClinGen TOPMed
CA5865868 rs746312264	350	N>I		No	ClinGen ExAC TOPMed gnomAD
CA379832390 rs746312264	350	N>S		No	ClinGen ExAC TOPMed gnomAD
rs746312264 CA5865867	350	N>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	351	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379832394 rs143031783	351	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5865870 rs143031783	351	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	352	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379832408 rs1167454604	353	L>P		No	ClinGen gnomAD
rs117876446 CA5865871 VAR_065762	353	L>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA379832416 rs1420453158	355	E>K		No	ClinGen gnomAD
CA5865874 CA5865873 rs762720343	357	M>I		No	ClinGen ExAC TOPMed gnomAD
CA217266735 rs868432900	359	S>F		No	ClinGen Ensembl
CA379832469 rs1398357511	362	Y>*		No	ClinGen TOPMed
rs138787124 COSM931912 CA5865875	365	T>A	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs759505535 CA5865876	365	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1384430651 CA379832518	371	I>T		No	ClinGen TOPMed
CA5865879 rs572565382	371	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	372	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1188106387 CA379832536	374	I>L		No	ClinGen TOPMed
rs1425522314 CA379832539	374	I>T		No	ClinGen TOPMed
rs1341034008 CA379832551	376	A>T		No	ClinGen gnomAD
rs368621518 CA217266748	381	A>T		No	ClinGen ESP
rs866149392 CA217266751	382	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA379832602 rs1217180502	383	D>A		No	ClinGen gnomAD
CA5865880 rs777683572	384	I>V		No	ClinGen ExAC gnomAD
rs913163145 CA217266756	387	A>E		No	ClinGen Ensembl
TCGA novel	387	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758465655 CA5865903	389	D>A		No	ClinGen ExAC gnomAD
CA5865904 rs780235177	390	P>A		No	ClinGen ExAC gnomAD
CA5865905 rs747412875	391	Y>C		No	ClinGen ExAC gnomAD
CA379832681 rs1422241979	394	V>L		No	ClinGen gnomAD
rs755510289 CA5865906	395	S>L		No	ClinGen ExAC TOPMed gnomAD
rs200513272 CA5865908	396	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1262443695 CA379832699	397	M>T		No	ClinGen gnomAD
rs1239629417 CA379832696	397	M>V		No	ClinGen gnomAD
CA379832707 rs1357254684	398	C>Y		No	ClinGen gnomAD
rs774114781 CA5865910	399	D>H		No	ClinGen ExAC TOPMed gnomAD
rs774114781 CA217267598	399	D>N		No	ClinGen ExAC TOPMed gnomAD
rs371612048 CA5865911 COSM129576	399	D>V	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1482294298 CA379832723	401	R>G		No	ClinGen gnomAD
CA5865912 rs543709489 COSM1356940	402	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA217267603 rs267603187 COSM1703541	402	R>Q	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	406	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	408	T>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5865914 rs760489763	409	S>F		No	ClinGen ExAC gnomAD
CA217267618 rs1032221906	414	T>A		No	ClinGen TOPMed
CA379832809 rs1032221906	414	T>P		No	ClinGen TOPMed
CA379832826 rs1443394060	416	N>I		No	ClinGen gnomAD
CA5865918 rs765080670	417	P>L		No	ClinGen ExAC gnomAD
CA379832835 rs1473390479	418	V>I		No	ClinGen TOPMed gnomAD
CA5865919 rs750627403	420	N>D		No	ClinGen ExAC gnomAD
CA5865921 rs766298721	421	E>K		No	ClinGen ExAC TOPMed gnomAD
rs751691304 CA5865922	423	I>V		No	ClinGen ExAC gnomAD
CA5865923 rs755389983	425	F>S		No	ClinGen ExAC gnomAD
rs1174966298 CA379832899	427	V>A		No	ClinGen TOPMed
TCGA novel	427	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5865924 rs781707436	428	P>R		No	ClinGen ExAC TOPMed gnomAD
CA5865926 rs756536333	430	E>K		No	ClinGen ExAC TOPMed gnomAD
rs369237179 CA5865927	434	Q>H		No	ClinGen ESP ExAC gnomAD
rs1251266730 CA379832949	435	I>F		No	ClinGen TOPMed
TCGA novel	437	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs113026269 CA217267642	439	I>M		No	ClinGen gnomAD
rs559868199 CA5865929	439	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779387285 CA5865930	440	A>V		No	ClinGen ExAC TOPMed gnomAD
rs540124821 CA217267647	441	V>I		No	ClinGen TOPMed gnomAD
rs540124821 CA379832987	441	V>L		No	ClinGen TOPMed gnomAD
rs746510096 CA5865931	442	M>K		No	ClinGen ExAC gnomAD
rs746510096 CA379832995	442	M>T		No	ClinGen ExAC gnomAD
CA379833000 rs1211110817	443	D>N		No	ClinGen TOPMed
CA379833012 rs1460325912	444	Y>C		No	ClinGen gnomAD
CA5865932 rs781298633 COSM323710	445	D>E	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
VAR_036390	445	D>N	a colorectal cancer sample; somatic mutation [UniProt]	No	UniProt
CA5865933 rs776629146	446	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761794324 CA379833026	446	R>H		No	ClinGen ExAC gnomAD
TCGA novel	446	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761794324 CA5865934	446	R>P		No	ClinGen ExAC gnomAD
CA5865955 rs571404172	447	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA217268529 rs933382556	450	N>S		No	ClinGen TOPMed gnomAD
CA5865958 rs772941356	451	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1321732086 CA379833087	454	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs201637128 TCGA novel CA379833093	455	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201637128 CA5865961	455	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759692497 CA5865962	458	V>I		No	ClinGen ExAC gnomAD
rs752856706 CA5865964	461	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5865963 rs766688772	461	E>K		No	ClinGen ExAC TOPMed gnomAD
CA217268556 rs140525588	462	A>P		No	ClinGen ESP TOPMed
TCGA novel	462	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379833182 rs1266303597	468	D>E		No	ClinGen TOPMed gnomAD
CA5865966 rs764679439	468	D>N		No	ClinGen ExAC gnomAD
CA379833186 rs1195011913	469	H>Y		No	ClinGen gnomAD
rs1590016504 CA379833203	471	S>G		No	ClinGen Ensembl
CA379833208 rs754440940	471	S>R		No	ClinGen ExAC TOPMed gnomAD
CA5865969 rs779205789	477	P>R		No	ClinGen ExAC gnomAD
rs553708062 CA5865971	478	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5865970 rs200921056	478	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	481	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1344631755 CA379833274	481	I>S		No	ClinGen gnomAD
rs144735588 CA5865972	482	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1300159321 CA379833283	483	H>Y		No	ClinGen gnomAD
CA379833302 rs1452088196	485	H>R		No	ClinGen TOPMed
CA379833315 rs1210064208	487	L>P		No	ClinGen TOPMed
CA217268577 rs796805386	488	V>L		No	ClinGen TOPMed gnomAD
rs147851702 CA5865990	491	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs765568180 COSM1703542 CA5865991	491	R>Q	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD

No associated diseases with Q86SS6

6 regional properties for Q86SS6

Type	Name	Position	InterPro Accession
domain	C2 domain	220 - 341	IPR000008-1
domain	C2 domain	352 - 485	IPR000008-2
domain	Synaptotagmin	224 - 239	IPR001565-1
domain	Synaptotagmin	239 - 252	IPR001565-2
domain	Synaptotagmin	294 - 309	IPR001565-3
domain	Synaptotagmin	314 - 324	IPR001565-4

Functions

		Description
EC Number
Subcellular Localization	Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
clathrin-coated endocytic vesicle membrane	The lipid bilayer surrounding a clathrin-coated endocytic vesicle.
dense core granule	Electron-dense organelle with a granular internal matrix; contains proteins destined to be secreted.
exocytic vesicle	A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis.
hippocampal mossy fiber to CA3 synapse	One of the giant synapses that form between the mossy fiber axons of dentate gyrus granule cells and the large complex spines of CA3 pyramidal cells. It consists of a giant bouton known as the mossy fiber expansion, synapsed to the complex, multiheaded spine (thorny excresence) of a CA3 pyramidal cell.
integral component of synaptic vesicle membrane	The component of the synaptic vesicle membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
secretory granule membrane	The lipid bilayer surrounding a secretory granule.

8 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
calcium-dependent phospholipid binding	Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester, in the presence of calcium.
clathrin binding	Binding to a clathrin heavy or light chain, the main components of the coat of coated vesicles and coated pits, and which also occurs in synaptic vesicles.
identical protein binding	Binding to an identical protein or proteins.
phosphatidylinositol-4,5-bisphosphate binding	Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions.
phosphatidylserine binding	Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine.
SNARE binding	Binding to a SNARE (soluble N-ethylmaleimide-sensitive factor attached protein receptor) protein.
syntaxin binding	Binding to a syntaxin, a SNAP receptor involved in the docking of synaptic vesicles at the presynaptic zone of a synapse.

8 GO annotations of biological process

Name	Definition
calcium-dependent activation of synaptic vesicle fusion	The regulatory process by which increased cytosolic calcium levels lead to the the fusion of synaptic vesicles with the presynaptic active zone membrane by bringing primed synaptic vesicle membrane into contact with membrane presynaptic active zone membrane.
calcium-ion regulated exocytosis	The release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle by fusion of the vesicle with the plasma membrane of a cell, induced by a rise in cytosolic calcium-ion levels.
cellular response to calcium ion	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus.
positive regulation of calcium ion-dependent exocytosis	Any process that activates or increases the frequency, rate or extent of calcium ion-dependent exocytosis.
regulation of calcium ion-dependent exocytosis	Any process that modulates the frequency, rate or extent of calcium ion-dependent exocytosis.
regulation of dopamine secretion	Any process that modulates the frequency, rate or extent of the regulated release of dopamine.
regulation of insulin secretion	Any process that modulates the frequency, rate or extent of the regulated release of insulin.
vesicle-mediated transport	A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane.

45 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P48018	SYT1	Synaptotagmin-1	Bos taurus (Bovine)	PR
P21521	Syt1	Synaptotagmin 1	Drosophila melanogaster (Fruit fly)	PR
Q86XP0	PLA2G4D	Cytosolic phospholipase A2 delta	Homo sapiens (Human)	PR
Q9HCH5	SYTL2	Synaptotagmin-like protein 2	Homo sapiens (Human)	PR
Q96C24	SYTL4	Synaptotagmin-like protein 4	Homo sapiens (Human)	PR
Q8N9U0	TC2N	Tandem C2 domains nuclear protein	Homo sapiens (Human)	PR
Q8TDW5	SYTL5	Synaptotagmin-like protein 5	Homo sapiens (Human)	PR
Q8IYJ3	SYTL1	Synaptotagmin-like protein 1	Homo sapiens (Human)	PR
P21579	SYT1	Synaptotagmin-1	Homo sapiens (Human)	PR
Q6XYQ8	SYT10	Synaptotagmin-10	Homo sapiens (Human)	PR
Q7L8C5	SYT13	Synaptotagmin-13	Homo sapiens (Human)	PR
Q9BQG1	SYT3	Synaptotagmin-3	Homo sapiens (Human)	PR
Q9BT88	SYT11	Synaptotagmin-11	Homo sapiens (Human)	PR
O00445	SYT5	Synaptotagmin-5	Homo sapiens (Human)	PR
Q9H2B2	SYT4	Synaptotagmin-4	Homo sapiens (Human)	PR
O43581	SYT7	Synaptotagmin-7	Homo sapiens (Human)	PR
Q9BQS2	SYT15	Synaptotagmin-15	Homo sapiens (Human)	PR
Q5T7P8	SYT6	Synaptotagmin-6	Homo sapiens (Human)	PR
P40749	Syt4	Synaptotagmin-4	Mus musculus (Mouse)	PR
Q9EQT6	Syt13	Synaptotagmin-13	Mus musculus (Mouse)	PR
Q9R0N4	Syt10	Synaptotagmin-10	Mus musculus (Mouse)	PR
Q99N80	Sytl1	Synaptotagmin-like protein 1	Mus musculus (Mouse)	PR
Q9R0Q1	Sytl4	Synaptotagmin-like protein 4	Mus musculus (Mouse)	PR
Q8C6N3	Syt15	Synaptotagmin-15	Mus musculus (Mouse)	PR
Q920N7	Syt12	Synaptotagmin-12	Mus musculus (Mouse)	PR
Q80T23	Sytl5	Synaptotagmin-like protein 5	Mus musculus (Mouse)	PR
Q9R0N5	Syt5	Synaptotagmin-5	Mus musculus (Mouse)	PR
Q9R0N8	Syt6	Synaptotagmin-6	Mus musculus (Mouse)	PR
Q50L43	Pla2g4d	Cytosolic phospholipase A2 delta	Mus musculus (Mouse)	PR
P46096	Syt1	Synaptotagmin-1	Mus musculus (Mouse)	PR
Q9R0N3	Syt11	Synaptotagmin-11	Mus musculus (Mouse)	PR
O35681	Syt3	Synaptotagmin-3	Mus musculus (Mouse)	PR
P46097	Syt2	Synaptotagmin-2	Mus musculus (Mouse)	PR
Q91XT6	Tc2n	Tandem C2 domains nuclear protein	Mus musculus (Mouse)	PR
Q9R0N9	Syt9	Synaptotagmin-9	Mus musculus (Mouse)	PR
Q812E4	Sytl5	Synaptotagmin-like protein 5	Rattus norvegicus (Rat)	PR
Q925B5	Syt13	Synaptotagmin-13	Rattus norvegicus (Rat)	PR
O08625	Syt10	Synaptotagmin-10	Rattus norvegicus (Rat)	PR
P47861	Syt5	Synaptotagmin-5	Rattus norvegicus (Rat)	PR
Q62746	Syt6	Synaptotagmin-6	Rattus norvegicus (Rat)	PR
P97610	Syt12	Synaptotagmin-12	Rattus norvegicus (Rat)	PR
P40748	Syt3	Synaptotagmin-3	Rattus norvegicus (Rat)	PR
P59926	Syt15	Synaptotagmin-15	Rattus norvegicus (Rat)	PR
P21707	Syt1	Synaptotagmin-1	Rattus norvegicus (Rat)	PR
Q925C0	Syt9	Synaptotagmin-9	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MPGARDALCH	QALQLLAELC	ARGALEHDSC	QDFIYHLRDR	ARPRLRDPDI	SVSLLTLVVT
70	80	90	100	110	120
ACGLALFGVS	LFVSWKLCWV	PWRERGLPSG	SKDNNQEPLN	YMDTETNEQE	NSEDFLDPPT
130	140	150	160	170	180
PCPDSSMKIS	HTSPDIPLST	QTGIQENCAH	GVRVQRQVTE	PTSSARHNSI	RRQLNLSNPD
190	200	210	220	230	240
FNIQQLQKQE	QLTGIGRIKP	ELYKQRSLDN	DDGRRSNSKA	CGKLNFILKY	DCDLEQLIVK
250	260	270	280	290	300
IHKAVNLPAK	DFSGTSDPYV	KIYLLPDRKT	KHQTKVHRKT	LNPVFDEVFL	FPVPYNDLEA
310	320	330	340	350	360
RKLHFSVYDF	DRFSRHDLIG	QVVVDHFLDL	ADFPRECILW	KDIEYVTNDN	VDLGELMFSL
370	380	390	400	410	420
CYLPTAGRLT	ITIIKARNLK	AMDITGASDP	YVKVSLMCDG	RRLKKRKTST	KRNTLNPVYN
430	440	450	460	470	480
EAIVFDVPPE	NIDQIHLSIA	VMDYDRVGHN	EIIGVCQVGN	EAERLGRDHW	SEMLSYPRKP
490
IAHWHSLVEK	R