AiPD: Autoinhibited Protein Database

Q7L8C5

Gene name	SYT13 (KIAA1427)
Protein name	Synaptotagmin-13
Names	Synaptotagmin XIII, SytXIII
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57586
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

61-154 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

61-154 (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

2 structures for Q7L8C5

Entry ID	Method	Resolution	Chain	Position	Source
1WFM	NMR	-	A	155-279	PDB
AF-Q7L8C5-F1	Predicted				AlphaFoldDB

362 variants for Q7L8C5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA380198494 rs1590539106	2	V>M		No	ClinGen Ensembl
rs1158024346 CA380198486	3	L>P		No	ClinGen gnomAD
TCGA novel	10	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5957903 rs749859158	11	G>D		No	ClinGen ExAC gnomAD
CA380198425 rs1296535701	13	T>M		No	ClinGen TOPMed
rs1216564836 CA380198397	18	T>S		No	ClinGen gnomAD
CA221571505 rs1043411342	20	I>V		No	ClinGen TOPMed gnomAD
rs754365310 CA380198380	21	L>F		No	ClinGen ExAC gnomAD
CA5957900 rs754365310	21	L>V		No	ClinGen ExAC gnomAD
CA380198364 rs1234880690	23	L>F		No	ClinGen gnomAD
rs1321928496 CA380198357	24	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA380198338 rs1297460687	27	T>I		No	ClinGen gnomAD
rs1590539016 CA380198343	27	T>P		No	ClinGen Ensembl
TCGA novel	29	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1386416242 CA380198326	29	L>P		No	ClinGen gnomAD
CA221571492 rs545201438	31	R>W		No	ClinGen 1000Genomes
CA5957899 rs764765031	33	M>V		No	ClinGen ExAC gnomAD
CA5957898 rs761107176	34	H>P		No	ClinGen ExAC TOPMed gnomAD
CA5957897 rs572920887	34	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA380198290 rs1166698681	35	P>T		No	ClinGen gnomAD
CA380198268 rs1476370381	38	G>R		No	ClinGen gnomAD
rs1264564616 CA380198247	41	P>L		No	ClinGen gnomAD
rs1264564616 CA380198248	41	P>R		No	ClinGen gnomAD
rs147787174 CA5957895	42	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380198240 rs1215823108	43	D>N		No	ClinGen gnomAD
CA380198232 rs1277343328	44	Q>*		No	ClinGen gnomAD
CA380198217 rs770979083	46	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5957893 rs770979083	46	P>T		No	ClinGen ExAC TOPMed gnomAD
CA380198207 rs1480006490	47	D>E		No	ClinGen TOPMed
rs1328122156 CA380198211	47	D>Y		No	ClinGen gnomAD
CA5957891 rs776550312	48	L>M		No	ClinGen ExAC gnomAD
rs140502652 CA221571415	48	L>P		No	ClinGen ESP gnomAD
rs776550312 CA5957892	48	L>V		No	ClinGen ExAC gnomAD
CA5957890 rs768590874	49	E>*		No	ClinGen ExAC
rs1395655024 CA380198195	50	K>E		No	ClinGen gnomAD
rs535976950 CA5957889	50	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs779927544 CA5957888	51	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1463749717 CA380198188	51	A>T		No	ClinGen gnomAD
rs779927544 CA221571372	51	A>V		No	ClinGen ExAC TOPMed gnomAD
rs778746369 CA5957885	54	S>C		No	ClinGen ExAC TOPMed gnomAD
CA380198170 rs778746369	54	S>G		No	ClinGen ExAC TOPMed gnomAD
CA5957883 CA5957884 rs753457085	54	S>R		No	ClinGen ExAC gnomAD
CA380198160 rs1432626745	55	L>F		No	ClinGen gnomAD
CA380198159 rs1253728848	56	L>I		No	ClinGen gnomAD
CA380198151 rs1429659105	57	G>E		No	ClinGen TOPMed
CA5957882 rs139035860	57	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	58	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380198145 rs1240216100	58	S>Y		No	ClinGen gnomAD
rs1416124987 CA380198136	60	Q>K		No	ClinGen TOPMed
rs759317856 CA5957848	62	F>V		No	ClinGen ExAC gnomAD
rs150266038 CA5957847	63	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5957845 rs764898286	64	V>G		No	ClinGen ExAC TOPMed gnomAD
CA5957846 rs770667994	64	V>I		No	ClinGen ExAC gnomAD
rs1021530590 CA380196624	66	K>N		No	ClinGen TOPMed gnomAD
CA5957844 rs372445793	68	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs574067776 CA5957843	68	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141057431 CA5957841	70	P>R		No	ClinGen ESP ExAC
CA221552532 rs1033449705	70	P>T		No	ClinGen gnomAD
CA380196593 rs1438362779	72	Q>*		No	ClinGen TOPMed
CA221552528 rs559079794	72	Q>H		No	ClinGen Ensembl
CA380196583 rs1204866420	73	P>L		No	ClinGen gnomAD
rs1445624569 CA380196580	74	R>C		No	ClinGen TOPMed gnomAD
CA5957840 rs755457486	74	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5957839 rs747329697	78	K>N		No	ClinGen ExAC TOPMed gnomAD
rs780430161 CA5957838	80	P>L		No	ClinGen ExAC
rs768438009 CA221552494	84	G>R		No	ClinGen Ensembl
rs765437582 CA5957835	86	R>S		No	ClinGen ExAC gnomAD
CA380196502 rs1419308932	86	R>T		No	ClinGen gnomAD
rs1451213954 CA380196484	89	V>A		No	ClinGen TOPMed
rs201913474 CA5957834 COSM1237947	90	T>M	thyroid [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs759567054 CA5957831	91	A>D		No	ClinGen ExAC gnomAD
CA380196475 rs556474039	91	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5957832 rs556474039	91	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA380196472 rs1486663754	92	P>A		No	ClinGen gnomAD
rs766243972 CA5957829	93	E>A		No	ClinGen ExAC
rs762887393 CA380196461	93	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5957830 rs774246336	93	E>Q		No	ClinGen ExAC gnomAD
rs1590514523 CA380196457	94	V>G		No	ClinGen Ensembl
CA5957827 rs772982659	94	V>I		No	ClinGen ExAC gnomAD
CA380196451 rs1309490688	95	I>T		No	ClinGen gnomAD
TCGA novel	95	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5957826 rs769395556	96	N>S		No	ClinGen ExAC gnomAD
rs760340667 CA5957825	97	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1313361779 CA380196431	98	A>E		No	ClinGen gnomAD
TCGA novel	99	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1287774878 CA380196406	102	L>M		No	ClinGen gnomAD
CA5957821 rs780589479	104	S>C		No	ClinGen ExAC gnomAD
rs368306910 CA5957820	105	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs368306910 CA5957819	105	T>M	Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1230967400 CA380196369	108	P>T		No	ClinGen TOPMed gnomAD
rs1590514435 CA380196363	109	T>P		No	ClinGen Ensembl
rs376322699 CA5957816	110	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1260336132 CA380196350	111	P>S		No	ClinGen gnomAD
rs997969468 CA221552373	113	S>R		No	ClinGen gnomAD
rs1182814873 CA380196315	116	P>H		No	ClinGen Ensembl
TCGA novel	116	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756301285 CA5957814	117	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA380196309 rs756301285	117	P>Q		No	ClinGen ExAC gnomAD
CA380196305 rs1333809293	118	N>T		No	ClinGen TOPMed gnomAD
CA380196289 rs1293684019	120	S>N		No	ClinGen gnomAD
CA5957812 rs369992005	121	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5957811 rs369992005	121	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5957810 rs772883439	121	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	124	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380196265 rs145069333	124	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5957808 rs145069333	124	R>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5957806 rs768134799	125	Q>H		No	ClinGen ExAC gnomAD
rs776389390 CA5957807	125	Q>L		No	ClinGen ExAC gnomAD
rs1460604592 CA380196254	126	V>F		No	ClinGen TOPMed gnomAD
CA380196250 rs1590514323	126	V>G		No	ClinGen Ensembl
rs1460604592 CA380196253	126	V>I		No	ClinGen TOPMed gnomAD
CA380196212 rs1407639441	132	I>F		No	ClinGen TOPMed
rs1463391926 CA380196210	132	I>T		No	ClinGen gnomAD
rs772574163 CA5957803	133	L>P		No	ClinGen ExAC gnomAD
CA221552319 rs939403681	134	P>S		No	ClinGen TOPMed
rs771143622 CA5957800	136	N>K		No	ClinGen ExAC gnomAD
rs1191912283 CA380196180	137	G>C		No	ClinGen gnomAD
rs1305114849 CA380196010	137	G>V		No	ClinGen gnomAD
CA380196006 rs1236447860	138	V>M		No	ClinGen TOPMed gnomAD
rs1194728024 CA380195997	139	V>M		No	ClinGen gnomAD
CA5957781 rs777850791	141	D>V		No	ClinGen ExAC gnomAD
CA221551563 rs372738990	142	V>A		No	ClinGen ESP TOPMed gnomAD
rs1400387072 CA380195965	143	C>S		No	ClinGen TOPMed
CA380195955 rs1434141524	144	V>A		No	ClinGen gnomAD
rs1395792866 CA380195949	145	M>T		No	ClinGen gnomAD
CA380195939 rs1468798187 CA380195938	146	E>D		No	ClinGen TOPMed gnomAD
rs770142217 CA5957780	146	E>K		No	ClinGen ExAC gnomAD
rs1272207578 CA380195904	151	E>G		No	ClinGen TOPMed gnomAD
rs1314970772 CA380195907	151	E>K		No	ClinGen TOPMed
TCGA novel	151	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748177510 CA5957779	155	S>G		No	ClinGen ExAC TOPMed gnomAD
CA380195860 rs1439388115	157	N>S		No	ClinGen TOPMed gnomAD
CA380195845 rs1210110449	159	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA221551539 rs917324727	160	P>A		No	ClinGen Ensembl
rs1281849129 CA380195833	161	K>T		No	ClinGen gnomAD
rs1349488915 CA380195820	163	H>R		No	ClinGen gnomAD
rs143240719 CA5957775	163	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1181620495 CA380195805	165	C>S		No	ClinGen TOPMed
TCGA novel	167	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201446387 CA5957774	167	D>N		No	ClinGen ExAC TOPMed gnomAD
CA380195774 rs1352747403	169	D>E		No	ClinGen gnomAD
TCGA novel	169	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1439835082 CA380195769	170	C>Y		No	ClinGen Ensembl
TCGA novel	172	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753673371 CA5957773	174	E>K		No	ClinGen ExAC TOPMed gnomAD
rs760342964 CA5957771	175	L>W		No	ClinGen ExAC gnomAD
rs752163179 CA5957770	176	F>S		No	ClinGen ExAC TOPMed gnomAD
CA221551512 rs1011170314	178	T>I		No	ClinGen TOPMed gnomAD
rs1011170314 CA380195712	178	T>S		No	ClinGen TOPMed gnomAD
COSM927037 rs771532112 CA5957766	179	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs763157249 CA5957765	179	R>H		No	ClinGen ExAC TOPMed gnomAD
rs771532112 CA5957767	179	R>S		No	ClinGen ExAC TOPMed gnomAD
rs551475019 CA5957740	183	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200476352 CA5957739	187	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA380195643 rs1351423803	188	D>N		No	ClinGen gnomAD
COSM3782626 CA5957736 rs755888154	189	G>R	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA380195630 rs748002772	190	G>R		No	ClinGen ExAC gnomAD
CA5957735 rs748002772	190	G>S		No	ClinGen ExAC gnomAD
rs780753026 CA5957734	191	C>R		No	ClinGen ExAC TOPMed gnomAD
CA5957733 rs755581804	192	D>E		No	ClinGen ExAC TOPMed gnomAD
rs146853860 CA5957731	195	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380195581 rs1469141974	197	G>R		No	ClinGen gnomAD
CA380195573 rs1008197037	198	S>N		No	ClinGen TOPMed
CA5957730 rs757898124 CA380195571	198	S>R		No	ClinGen ExAC TOPMed gnomAD
CA221550612 rs1008197037	198	S>T		No	ClinGen TOPMed
CA380195564 rs1590511683	200	A>T		No	ClinGen Ensembl
rs762204585 CA5957727	201	N>S		No	ClinGen ExAC gnomAD
rs149737973 CA5957726	202	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA380195540 rs1345861179	203	T>I		No	ClinGen gnomAD
rs1311932172 CA380195535	204	G>A		No	ClinGen TOPMed
CA380195539 rs1235313234	204	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs760989238 CA5957724	206	V>L		No	ClinGen ExAC gnomAD
rs775615785 CA5957723	207	E>K		No	ClinGen ExAC
CA221550561 rs888054571	208	A>V		No	ClinGen TOPMed
rs772169384 CA5957722	209	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs769726033 CA5957719	211	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1565379121 CA380195478	214	K>E		No	ClinGen Ensembl
CA5957715 rs768150450	215	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs781058992 CA5957716	215	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746655272 CA5957714	216	Q>E		No	ClinGen ExAC gnomAD
CA380195465 rs1413887929	216	Q>R		No	ClinGen TOPMed
rs1405415160 CA380195457	217	L>R		No	ClinGen gnomAD
CA380195460 rs1434540106	217	L>V		No	ClinGen gnomAD
CA5957713 rs779635219	218	H>P		No	ClinGen ExAC gnomAD
CA380195453 rs779635219	218	H>R		No	ClinGen ExAC gnomAD
CA221550494 rs1044307836	220	T>I		No	ClinGen Ensembl
CA5957711 rs749961830	221	W>R		No	ClinGen ExAC gnomAD
CA5957710 rs139576162	222	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	223	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5957709 rs757864410	226	V>M		No	ClinGen ExAC gnomAD
CA5957708 rs754215998	228	P>L		No	ClinGen ExAC gnomAD
rs868559206 CA221550468	228	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1314150808 CA380195384	230	A>T		No	ClinGen gnomAD
rs764489678 CA5957707	230	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs376857130 CA5957702	235	P>L		No	ClinGen ESP ExAC gnomAD
rs200102270 CA5957703	235	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5957701 rs374063005	237	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5957700 rs761765824	238	T>I		No	ClinGen ExAC gnomAD
CA380195334 rs1590511390	238	T>P		No	ClinGen Ensembl
TCGA novel	239	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5957699 rs776469745	240	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1565378960 CA599370694	241	L>*		No	ClinGen Ensembl
CA221550419 rs374500433	244	R>K		No	ClinGen ESP
CA380195296 rs1396602601	244	R>S		No	ClinGen TOPMed
rs779692698 CA380195283	246	C>W		No	ClinGen ExAC TOPMed gnomAD
CA5957695 rs771867688	247	D>N		No	ClinGen ExAC gnomAD
CA221550398 rs771867688	247	D>Y		No	ClinGen ExAC gnomAD
CA5957694 rs745323746	248	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5957693 rs778599168	248	R>H		No	ClinGen ExAC gnomAD
rs745323746 CA221550392	248	R>S		No	ClinGen ExAC TOPMed gnomAD
CA5957690 rs778201279	251	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5957689 rs141892837	251	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1231287614 CA380195250	252	H>R		No	ClinGen gnomAD
TCGA novel	252	H>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1565378847 CA380195236	254	V>A		No	ClinGen Ensembl
rs767668042 CA221550361	254	V>L		No	ClinGen ExAC TOPMed gnomAD
rs767668042 CA5957687	254	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5957686 rs759772969	255	A>S		No	ClinGen ExAC gnomAD
CA221550348 rs547784718	256	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA380195225 rs1287864074	256	G>V		No	ClinGen gnomAD
CA380195228 rs547784718	256	G>W		No	ClinGen gnomAD
CA5957683 rs370946917	259	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5957682 rs565058937	259	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380195208 rs565058937	259	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1590511260 CA380195204	260	L>Q		No	ClinGen Ensembl
CA5957680 rs200496973	263	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5957678 rs771812316	264	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1186074397 CA380195177	265	T>A		No	ClinGen TOPMed gnomAD
CA5957677 rs745485588	267	V>A		No	ClinGen ExAC gnomAD
rs770551203 CA5957675	271	A>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	271	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA221550271 rs377685463	271	A>V		No	ClinGen ESP TOPMed gnomAD
CA380195138 rs1273688258	272	A>S		No	ClinGen gnomAD
CA380195128 rs748816693 CA5957674	273	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA380195113 rs1406048001	275	G>V		No	ClinGen TOPMed
CA380195107 rs1321638548	276	E>D		No	ClinGen TOPMed
rs1043954457 CA221550227	276	E>G		No	ClinGen TOPMed
rs559653118 COSM3747874 CA5957671	276	E>K	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA380195077 rs368796267	281	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA380195080 rs1323526809	281	A>T		No	ClinGen gnomAD
CA5957668 rs368796267	281	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs758440772 CA5957666	282	K>M		No	ClinGen ExAC gnomAD
rs750485722 CA5957665	282	K>N		No	ClinGen ExAC TOPMed gnomAD
CA380195049 rs1302162474	283	E>A		No	ClinGen TOPMed
CA380195052 rs1222688042	283	E>K		No	ClinGen TOPMed
CA5957638 rs762541247	284	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs772953190 CA5957637	285	S>C		No	ClinGen ExAC gnomAD
rs530321611 CA5957635	286	A>P		No	ClinGen 1000Genomes ExAC gnomAD
CA5957636 rs530321611	286	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1235834297 CA380195024	288	A>T		No	ClinGen gnomAD
rs1334380394 CA380195004	291	V>I		No	ClinGen gnomAD
rs1373023332 CA380194976	295	I>M		No	ClinGen gnomAD
rs367963993 CA5957633	296	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1434232153 CA380194973	296	S>T		No	ClinGen gnomAD
rs567477466 CA5957632	299	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5957631 rs567477466	299	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5957629 rs746055509	300	A>T		No	ClinGen ExAC gnomAD
rs779255449 CA221546748	302	N>K		No	ClinGen ExAC gnomAD
CA380194936 rs1590506421	302	N>T		No	ClinGen Ensembl
CA5957627 rs757281112	303	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1979539 CA5957626 rs753970325	303	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5957625 rs781215893	306	V>M		No	ClinGen ExAC gnomAD
rs754987811 CA5957624	312	K>E		No	ClinGen ExAC gnomAD
CA5957623 rs751358737	312	K>R		No	ClinGen ExAC gnomAD
rs993561788 CA221546705	313	N>S		No	ClinGen TOPMed
rs993561788 CA380194870	313	N>T		No	ClinGen TOPMed
CA380194865 rs1348906164	314	L>F		No	ClinGen gnomAD
CA5957621 rs762851457	315	H>R		No	ClinGen ExAC gnomAD
rs750028794 CA5957620	317	N>K		No	ClinGen ExAC gnomAD
rs1352842397 CA380194832	319	S>P		No	ClinGen gnomAD
CA5957619 rs765003883	320	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5957618 rs761258548	321	E>V		No	ClinGen ExAC gnomAD
rs769116133 CA5957616	322	L>F		No	ClinGen ExAC TOPMed gnomAD
rs778935002 CA5957611	324	G>A		No	ClinGen ExAC TOPMed gnomAD
CA5957610 rs778935002	324	G>E		No	ClinGen ExAC TOPMed gnomAD
rs772312306 CA5957612	324	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1221380838 CA380194759	329	V>D		No	ClinGen gnomAD
CA5957586 rs773614571	329	V>I		No	ClinGen ExAC gnomAD
rs773614571 CA380194761	329	V>L		No	ClinGen ExAC gnomAD
rs1292692267 CA380194720	335	H>D		No	ClinGen gnomAD
rs1341574925 CA380194705	337	A>T		No	ClinGen TOPMed gnomAD
CA380194700 rs1298536167	337	A>V		No	ClinGen gnomAD
rs377635830 CA380194697	338	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377635830 CA380194698	338	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1739754 rs377635830 CA5957583	338	R>Q	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5957584 rs138274269	338	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs758385601 CA5957582	344	Q>H		No	ClinGen ExAC gnomAD
rs150469000 CA380194651	345	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5957581 rs150469000	345	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs200690817 CA5957580	347	R>*		No	ClinGen ExAC gnomAD
CA5957579 rs757093573	347	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753476125 CA5957578	348	A>V		No	ClinGen ExAC gnomAD
CA5957577 rs763805318	350	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	351	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5957576 rs755556359	353	N>S		No	ClinGen ExAC gnomAD
rs752263225 CA5957575	354	P>T		No	ClinGen ExAC gnomAD
rs1248914978 CA380194587	355	V>A		No	ClinGen TOPMed gnomAD
CA380194588 rs1014628126	355	V>L		No	ClinGen TOPMed gnomAD
CA221545343 rs1014628126	355	V>M		No	ClinGen TOPMed gnomAD
CA5957572 rs774759057	358	E>D		No	ClinGen ExAC gnomAD
rs760120526 CA5957573	358	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5957571 rs766824644	359	M>I		No	ClinGen ExAC gnomAD
rs985538167 CA221545330	359	M>T		No	ClinGen Ensembl
rs763465094 CA5957570	360	I>F		No	ClinGen ExAC gnomAD
rs1475590024 CA380194549	360	I>M		No	ClinGen gnomAD
rs1219544092 CA380194541	361	M>I		No	ClinGen gnomAD
CA5957569 rs753032040	361	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	362	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380194514 rs1373325591	365	P>L		No	ClinGen TOPMed
CA5957565 rs767258507 COSM927035	367	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5957566 rs767258507	367	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1020825047 CA221545315	368	L>M		No	ClinGen Ensembl
CA380194496 rs1207148087	368	L>R		No	ClinGen TOPMed
CA380194488 rs1253927917	370	Q>*		No	ClinGen gnomAD
CA380194482 rs1309301439	371	A>T		No	ClinGen gnomAD
rs1358178704 COSM688110 CA380194466	373	S>T	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs749089005 CA5957561	375	E>V		No	ClinGen ExAC TOPMed gnomAD
CA5957559 rs777350878	378	V>M		No	ClinGen ExAC gnomAD
CA380194431 rs1590504632	379	L>M		No	ClinGen Ensembl
rs781660259 CA221545242	380	G>D		No	ClinGen gnomAD
TCGA novel	381	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1472545503 CA380194417	381	Q>R		No	ClinGen gnomAD
rs752107147 COSM927034 CA5957557	383	D>N	endometrium Variant assessed as Somatic; 4.626e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1211102264 CA380194368	388	C>G		No	ClinGen gnomAD
CA5957555 rs755428724	388	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs116352829 CA5957554	389	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1348331005 CA380194356	390	L>F		No	ClinGen TOPMed
rs373387138 CA5957552	391	G>D		No	ClinGen ESP ExAC gnomAD
CA380194342 rs1290172069	392	H>R		No	ClinGen gnomAD
CA221545233 rs141146129	394	S>R		No	ClinGen ESP TOPMed gnomAD
rs750828628 CA5957551	396	G>D		No	ClinGen ExAC gnomAD
CA380194305 rs1343134035	398	H>L		No	ClinGen gnomAD
rs375820624 CA5957550	398	H>Y		No	ClinGen ESP ExAC gnomAD
CA380194302 rs1590504528	399	T>P		No	ClinGen Ensembl
CA5957549 rs762066763	400	S>L		No	ClinGen ExAC TOPMed gnomAD
CA380194284 rs1432994952	402	S>P		No	ClinGen TOPMed
TCGA novel	402	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380194275 rs1297503915	403	E>G		No	ClinGen TOPMed
CA5957547 rs768769150	404	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5957546 rs369729181 COSM1734609	404	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1422069596 CA380194263	405	S>N		No	ClinGen TOPMed gnomAD
CA5957545 rs151134010	405	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380194262 rs1422069596	405	S>T		No	ClinGen TOPMed gnomAD
rs1182587013 CA380194257	406	H>Y		No	ClinGen gnomAD
rs1484351337 CA380194237	408	E>V		No	ClinGen gnomAD
rs1035362217 CA221545138	411	L>F		No	ClinGen TOPMed gnomAD
CA380194206 rs1469418564	412	K>N		No	ClinGen TOPMed
CA380194208 rs1465201208	412	K>R		No	ClinGen gnomAD
rs777574512 CA380194198	413	N>K		No	ClinGen ExAC gnomAD
CA380194201 rs1590504444	413	N>T		No	ClinGen Ensembl
CA5957541 rs769516065	415	R>C		No	ClinGen ExAC gnomAD
rs142224925 CA5957540 COSM1353849	415	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5957537 rs572557625	416	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754503239 CA5957538	416	R>W		No	ClinGen ExAC TOPMed gnomAD
CA380194169 rs1319512863	418	I>M		No	ClinGen gnomAD
CA380194148 rs1434757066	421	W>*		No	ClinGen gnomAD
rs1389854678 CA380194134	423	Q>K		No	ClinGen gnomAD
rs780647221 CA5957536	423	Q>R		No	ClinGen ExAC gnomAD
rs757924138 CA380194118	425	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA5957535 rs759007799	425	H>Y		No	ClinGen ExAC gnomAD
CA380194116 rs1411296133	426	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA380194107 rs1590504363	427	L>Y		No	ClinGen Ensembl

No associated diseases with Q7L8C5

3 regional properties for Q7L8C5

Type	Name	Position	InterPro Accession
domain	C2 domain	158 - 275	IPR000008-1
domain	C2 domain	287 - 422	IPR000008-2
domain	Synaptotagmin-13, C2B domain	288 - 425	IPR028692

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
axon	The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
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.
integral component of plasma membrane	The component of the plasma 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.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma 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.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.
transport vesicle	Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell.

5 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.
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.

6 GO annotations of biological process

Name	Definition
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.
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.
vesicle fusion	Fusion of the membrane of a transport vesicle with its target membrane.
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
Q86SS6	SYT9	Synaptotagmin-9	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
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
Q9R0N9	Syt9	Synaptotagmin-9	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
Q9EQT6	Syt13	Synaptotagmin-13	Mus musculus (Mouse)	PR
Q812E4	Sytl5	Synaptotagmin-like protein 5	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
Q925C0	Syt9	Synaptotagmin-9	Rattus norvegicus (Rat)	PR
P59926	Syt15	Synaptotagmin-15	Rattus norvegicus (Rat)	PR
P21707	Syt1	Synaptotagmin-1	Rattus norvegicus (Rat)	PR
Q925B5	Syt13	Synaptotagmin-13	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MVLSVPVIAL	GATLGTATSI	LALCGVTCLC	RHMHPKKGLL	PRDQDPDLEK	AKPSLLGSAQ
70	80	90	100	110	120
QFNVKKSTEP	VQPRALLKFP	DIYGPRPAVT	APEVINYADY	SLRSTEEPTA	PASPQPPNDS
130	140	150	160	170	180
RLKRQVTEEL	FILPQNGVVE	DVCVMETWNP	EKAASWNQAP	KLHYCLDYDC	QKAELFVTRL
190	200	210	220	230	240
EAVTSNHDGG	CDCYVQGSVA	NRTGSVEAQT	ALKKRQLHTT	WEEGLVLPLA	EEELPTATLT
250	260	270	280	290	300
LTLRTCDRFS	RHSVAGELRL	GLDGTSVPLG	AAQWGELKTS	AKEPSAGAGE	VLLSISYLPA
310	320	330	340	350	360
ANRLLVVLIK	AKNLHSNQSK	ELLGKDVSVK	VTLKHQARKL	KKKQTKRAKH	KINPVWNEMI
370	380	390	400	410	420
MFELPDDLLQ	ASSVELEVLG	QDDSGQSCAL	GHCSLGLHTS	GSERSHWEEM	LKNPRRQIAM

WHQLHL