AiPD: Autoinhibited Protein Database

Q9UH65

Gene name	SWAP70 (KIAA0640, HSPC321)
Protein name	Switch-associated protein 70
Names	SWAP-70
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23075
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

474-566 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

474-566 (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 Q9UH65

Entry ID	Method	Resolution	Chain	Position	Source
2DN6	NMR	-	A	211-312	PDB
AF-Q9UH65-F1	Predicted				AlphaFoldDB

396 variants for Q9UH65

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs746454913 CA5880143	2	G>E		No	ClinGen ExAC TOPMed gnomAD
rs867141329 CA217755845	2	G>W		No	ClinGen gnomAD
CA379843080 rs1295778939	4	L>F		No	ClinGen gnomAD
TCGA novel	5	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379843120 rs1400484620	7	E>Q		No	ClinGen gnomAD
rs1218446836 CA379843153	10	K>E		No	ClinGen gnomAD
rs1301795289 CA379843169	11	A>T		No	ClinGen gnomAD
rs762488129 CA5880149	14	H>Y		No	ClinGen ExAC gnomAD
rs371975558 CA5880151	15	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5880152 rs759522197	16	F>V		No	ClinGen ExAC gnomAD
rs866196064 CA217755941	18	A>T		No	ClinGen Ensembl
CA5880153 rs767503218	18	A>V		No	ClinGen ExAC gnomAD
rs1268546148 CA379843263	19	L>I		No	ClinGen gnomAD
rs1178514404 CA379843268	19	L>R		No	ClinGen TOPMed
TCGA novel	19	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379843277 rs1156484251	20	D>G		No	ClinGen gnomAD
CA379843303 rs1379111191	22	D>N		No	ClinGen gnomAD
rs760503703 CA5880156	23	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA379843341 rs1348040216	24	S>G		No	ClinGen gnomAD
CA217755984 rs974887783	25	G>R		No	ClinGen TOPMed
CA379843393 rs1590001479	27	V>G		No	ClinGen Ensembl
CA379843410 rs1372972740	29	K>Q		No	ClinGen gnomAD
CA5880159 rs757417100	30	S>P		No	ClinGen ExAC gnomAD
rs896118115 CA379843438	31	Q>*		No	ClinGen gnomAD
rs896118115 CA217756000	31	Q>E		No	ClinGen gnomAD
CA217756002 rs1011917777	31	Q>H		No	ClinGen gnomAD
TCGA novel	32	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379843454 rs1255624294	32	L>P		No	ClinGen gnomAD
CA379843468 rs1224419873	33	K>R		No	ClinGen gnomAD
rs997027044 CA217772940	34	V>L		No	ClinGen Ensembl
rs1169689894 CA379848868	41	T>A		No	ClinGen TOPMed gnomAD
CA5880186 rs755469293	41	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1357435638 CA379848894	43	L>V		No	ClinGen gnomAD
CA379848942 rs1447414700	47	H>P		No	ClinGen gnomAD
rs778387589 CA5880190	48	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1357916873 CA379848982	50	V>L		No	ClinGen TOPMed gnomAD
rs1217385317 CA379848994	51	A>S		No	ClinGen gnomAD
CA379849026 rs1340523624	53	E>D		No	ClinGen gnomAD
rs998533062 CA217772961	60	D>N		No	ClinGen Ensembl
CA379849171 rs1338234246	64	V>L		No	ClinGen gnomAD
CA379849167 rs1338234246	64	V>M		No	ClinGen gnomAD
CA5880192 rs771767428	66	N>S		No	ClinGen ExAC gnomAD
CA217772971 rs1013221884	70	M>R		No	ClinGen TOPMed
TCGA novel	71	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379849284 rs1210961726	72	Y>C		No	ClinGen gnomAD
CA217772973 rs113738506	75	R>S		No	ClinGen TOPMed gnomAD
rs775137526 CA5880193	77	I>M		No	ClinGen ExAC gnomAD
TCGA novel	77	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379849373 rs1192884138	79	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs746947364 CA5880194	80	K>R		No	ClinGen ExAC gnomAD
rs759572416 CA5880220	82	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs753192517 CA5880222	84	N>D		No	ClinGen ExAC gnomAD
rs1382440024 CA379629194	85	F>L		No	ClinGen TOPMed gnomAD
CA5880224 rs764373566	88	I>M		No	ClinGen ExAC gnomAD
CA379629220 rs1448131835	88	I>T		No	ClinGen TOPMed
rs139909932 CA5880223	88	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA379629225 rs1461124978	89	E>V		No	ClinGen gnomAD
CA5880226 rs758146962	90	F>L		No	ClinGen ExAC gnomAD
CA5880227 rs779816655	91	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5880228 rs751229828	92	R>S		No	ClinGen ExAC gnomAD
CA5880229 rs754586223	93	M>T		No	ClinGen ExAC TOPMed gnomAD
CA5880230 rs780743937	96	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1210416436 CA379629321	97	L>V		No	ClinGen TOPMed
rs199642807 CA5880232	98	C>Y		No	ClinGen 1000Genomes ExAC
CA379629372 rs1483538419	100	K>R		No	ClinGen TOPMed
TCGA novel	101	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1276044959 CA379629392	101	K>N		No	ClinGen gnomAD
rs1306729276 CA379629398	102	N>D		No	ClinGen gnomAD
rs749995893	102	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs749995893	102	N>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	103	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379629427 rs1252123750	104	T>A		No	ClinGen gnomAD
rs1481774092 CA379629436	104	T>R		No	ClinGen gnomAD
CA379629449 rs1256947831	105	K>R		No	ClinGen gnomAD
CA379629462 rs1590033271	106	N>S		No	ClinGen Ensembl
rs1203122209 CA379629478	107	P>H		No	ClinGen TOPMed
CA217578477 rs368837103	108	L>V		No	ClinGen ESP TOPMed
rs1338217889 CA379629498	110	I>V		No	ClinGen TOPMed gnomAD
CA217578494 rs996392104	114	D>G		No	ClinGen TOPMed
CA379629571 rs996392104	114	D>V		No	ClinGen TOPMed
CA5880236 rs536296423	118	I>M		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	122	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771173128 CA5880237	123	N>S		No	ClinGen ExAC gnomAD
CA5880238 rs752785142	127	E>G		No	ClinGen ExAC TOPMed gnomAD
CA5880239 rs759730001	128	D>N		No	ClinGen ExAC gnomAD
rs1361324542 CA379629844	129	K>R		No	ClinGen gnomAD
CA379629861 rs1309255449	130	Y>*		No	ClinGen TOPMed
rs1172442820 CA379629856	130	Y>C		No	ClinGen gnomAD
CA5880240 rs371953127	134	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1565124122 CA379629897	135	V>L		No	ClinGen Ensembl
TCGA novel	137	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379631854 rs1212606764	139	I>T		No	ClinGen gnomAD
rs1426449903 CA379631869	141	Y>C		No	ClinGen TOPMed
CA379631881 rs1253224638	143	L>F		No	ClinGen gnomAD
rs755689754 CA5880274	144	K>N		No	ClinGen ExAC TOPMed gnomAD
CA379631952 rs1406669347	149	A>V		No	ClinGen gnomAD
rs377411928 CA5880276	153	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs377411928 CA379632002	153	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs757181382 CA5880277	154	W>C		No	ClinGen ExAC gnomAD
CA5880278 rs778695374	155	Q>*		No	ClinGen ExAC gnomAD
CA379632066 rs1326403887	157	E>Q		No	ClinGen gnomAD
rs745629320 CA5880279	158	Q>E		No	ClinGen ExAC gnomAD
CA217586084 rs578090647	159	F>L		No	ClinGen 1000Genomes
rs1277834338 CA379632105	159	F>Y		No	ClinGen gnomAD
rs758580512 CA5880280	161	H>N		No	ClinGen ExAC TOPMed gnomAD
CA5880281 rs780364212	161	H>R		No	ClinGen ExAC gnomAD
rs1213455037 CA379632287	168	D>H		No	ClinGen gnomAD
CA379632322 rs1590039279	169	S>N		No	ClinGen Ensembl
TCGA novel CA379632368 rs1590039309	171	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA379632409 rs1202030328	173	L>F		No	ClinGen gnomAD
rs540471759 CA5880285	179	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs773729372 CA5880287	180	E>G		No	ClinGen ExAC gnomAD
CA379632552 rs1415569563	180	E>K		No	ClinGen gnomAD
rs1279214072 CA379632614	182	I>S		No	ClinGen TOPMed
CA217586190 rs1052161854	182	I>V		No	ClinGen Ensembl
CA217586198 rs867999385	183	G>R		No	ClinGen Ensembl
CA379632760 rs1444485184	188	S>N		No	ClinGen gnomAD
rs1327142489 CA379632783	189	K>*		No	ClinGen gnomAD
CA379632793 rs1353943498	189	K>R		No	ClinGen TOPMed gnomAD
rs1400451298 CA379632813	190	G>D		No	ClinGen TOPMed
rs1341986783 CA379632893	192	D>E		No	ClinGen TOPMed
CA5880290 rs560808312	193	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760230317 CA5880291	193	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs560808312 CA5880289	193	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	194	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379633012 rs1590039365	198	M>T		No	ClinGen Ensembl
rs753287807 CA5880293	198	M>V		No	ClinGen ExAC gnomAD
rs757208252 CA5880294	199	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5880295 rs765121383	200	I>T		No	ClinGen ExAC gnomAD
rs949120621 CA217586217	201	N>S		No	ClinGen Ensembl
CA5880297 rs758266146	203	V>A		No	ClinGen ExAC gnomAD
rs1046038771 CA217586224	203	V>I		No	ClinGen Ensembl
CA5880298 rs779703255	205	N>D		No	ClinGen ExAC gnomAD
rs747326513 CA5880299	207	L>F		No	ClinGen ExAC gnomAD
rs529631592 CA379633201	208	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1474307410 CA379633216	208	I>M		No	ClinGen gnomAD
rs1259307604 CA379633207	208	I>T		No	ClinGen TOPMed gnomAD
CA5880300 rs529631592	208	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5880301 rs781431832	210	D>A		No	ClinGen ExAC gnomAD
CA5880303 rs543379513	211	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1203051046 CA379633287	214	Q>P		No	ClinGen gnomAD
rs1333509471 CA379634197	215	G>V		No	ClinGen gnomAD
CA5880328 rs781521964	216	Y>*		No	ClinGen ExAC gnomAD
CA379634238 rs1352819680	217	M>I		No	ClinGen gnomAD
COSM1510447 CA5880329 rs376455558	217	M>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1231218695 CA379634250	218	M>I		No	ClinGen gnomAD
CA379634243 rs1490073659	218	M>V		No	ClinGen TOPMed gnomAD
rs1272358807 CA379634293	220	K>N		No	ClinGen gnomAD
CA379634321 rs1345020856	223	R>G		No	ClinGen TOPMed
rs777699732 CA5880331	224	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5880330 COSM1358048 rs756309764	224	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs749872747 CA5880332	225	K>E		No	ClinGen ExAC gnomAD
CA5880333 rs771275746	228	T>I		No	ClinGen ExAC gnomAD
CA379634399 rs771275746	228	T>N		No	ClinGen ExAC gnomAD
CA217588441 rs397686	230	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_059548 rs397686 CA217588434	230	R>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA379634524 rs1410359502	237	N>D		No	ClinGen TOPMed
CA5880338 rs761444449	237	N>K		No	ClinGen ExAC TOPMed gnomAD
rs776316716 CA5880337	237	N>S		No	ClinGen ExAC gnomAD
rs1166461418 CA379634542	238	I>L		No	ClinGen TOPMed
rs1409106600 CA379634546	238	I>T		No	ClinGen TOPMed
TCGA novel	239	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA217588472 rs948947863	242	Y>C		No	ClinGen Ensembl
TCGA novel	245	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5880340 rs772534151	245	E>K		No	ClinGen ExAC
rs1393616471 CA379634615	246	D>G		No	ClinGen gnomAD
rs762964112 CA5880341	246	D>Y		No	ClinGen ExAC gnomAD
CA217588495 rs1038261899	248	K>Q		No	ClinGen Ensembl
CA5880342 rs766174159	249	D>G		No	ClinGen ExAC gnomAD
CA379634633 rs1471639188	249	D>Y		No	ClinGen TOPMed
TCGA novel	251	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379634676 rs1292397385	255	L>V		No	ClinGen gnomAD
CA379634709 rs1182314652	259	N>I		No	ClinGen TOPMed
rs899269458 CA217588507	262	V>A		No	ClinGen gnomAD
TCGA novel	263	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767394976 CA5880345	263	E>D		No	ClinGen ExAC gnomAD
CA217588513 rs900942550	263	E>G		No	ClinGen TOPMed
CA5880368 rs200861884	267	D>N		No	ClinGen ExAC gnomAD
rs1375988689 CA379634814	272	K>N		No	ClinGen gnomAD
CA379634825 rs1257380668	274	L>F		No	ClinGen TOPMed
CA379634841 rs1206500194	276	L>P		No	ClinGen TOPMed
TCGA novel	276	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745775796 CA5880371	277	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5880372 rs758838602	283	T>S		No	ClinGen ExAC TOPMed gnomAD
CA379634912 rs1295179580	286	I>V		No	ClinGen TOPMed
rs1231478761 CA379634948	288	A>V		No	ClinGen TOPMed
rs1367692834 CA379634993	292	K>R		No	ClinGen gnomAD
rs1212883450 CA379635072	297	W>*		No	ClinGen gnomAD
CA379635094 rs1259294368	298	I>S		No	ClinGen gnomAD
CA379635086 rs1312128823	298	I>V		No	ClinGen TOPMed
rs771677612 CA5880407	301	I>F		No	ClinGen ExAC TOPMed gnomAD
rs370228099 CA217591724	302	H>R		No	ClinGen ESP
rs544769819 CA5880408	303	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA379635654 rs1479446384	305	I>T		No	ClinGen TOPMed
CA379635651 rs1350485714	305	I>V		No	ClinGen gnomAD
CA5880409 rs746954278	306	H>R		No	ClinGen ExAC gnomAD
CA379635660 rs1438692253	306	H>Y		No	ClinGen gnomAD
CA5880412 rs761958548	307	L>P		No	ClinGen ExAC gnomAD
rs1333190443 CA379635692	308	L>F		No	ClinGen gnomAD
CA5880413 rs769958518	310	L>P		No	ClinGen ExAC gnomAD
rs372544640 CA5880415	311	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA379635713 rs372544640	311	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1489164732 CA379635729	312	S>I		No	ClinGen TOPMed
rs377069354 CA379635740	313	P>L		No	ClinGen ESP ExAC gnomAD
rs377069354 CA5880416	313	P>R		No	ClinGen ESP ExAC gnomAD
rs775413156 CA217591783	314	P>A		No	ClinGen Ensembl
CA379635752 rs1239983739	315	P>S		No	ClinGen TOPMed
CA379635766 rs1428898526	316	H>L		No	ClinGen gnomAD
CA5880418 CA379635769 rs760081714	316	H>Q		No	ClinGen ExAC gnomAD
rs1483312319 CA379635764	316	H>Y		No	ClinGen gnomAD
rs889811931 CA217591803	319	A>T		No	ClinGen TOPMed gnomAD
CA5880419 rs767775947	319	A>V		No	ClinGen ExAC gnomAD
CA5880420 rs753046053	320	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5880421 COSM933679 rs756992212	320	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5880423 rs369193403	322	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5880424 rs758040551	322	R>H		No	ClinGen ExAC TOPMed gnomAD
CA379635835 rs1430912409	323	R>W		No	ClinGen gnomAD
CA379635843 rs1310400007	324	K>E		No	ClinGen gnomAD
rs763528333 CA5880426 COSM3772120	327	R>Q	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA379635877 rs1414545802	327	R>W		No	ClinGen TOPMed gnomAD
rs769322511 CA217591890	330	Q>E		No	ClinGen Ensembl
CA5880427 rs373881926	331	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1212461536 CA379635928	332	A>P		No	ClinGen gnomAD
CA379635927 rs1212461536	332	A>T		No	ClinGen gnomAD
TCGA novel	332	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379635951 rs1360952045	334	Q>K		No	ClinGen TOPMed
CA379636008 rs565003458	338	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379636012 rs1207143041	339	R>*		No	ClinGen gnomAD
rs747938921 CA5880429	339	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA379636018 rs1564832152	340	Q>E		No	ClinGen Ensembl
CA5880430 rs769550588	341	M>I		No	ClinGen ExAC gnomAD
CA379636028 rs1590043818	341	M>V		No	ClinGen Ensembl
CA379636038 rs1187966951	342	K>T		No	ClinGen gnomAD
rs773468816 CA5880431	345	Q>H		No	ClinGen ExAC gnomAD
CA5880433 rs771062864	346	A>D		No	ClinGen ExAC TOPMed
rs763145848 CA379636065	346	A>P		No	ClinGen ExAC gnomAD
rs763145848 CA5880432	346	A>S		No	ClinGen ExAC gnomAD
CA379636064 rs763145848	346	A>T		No	ClinGen ExAC gnomAD
rs759972644 CA5880435	347	A>S		No	ClinGen ExAC TOPMed gnomAD
rs759972644 COSM933681 CA217591943	347	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA379636085 rs1170634853	347	A>V		No	ClinGen gnomAD
CA379636098 rs360157	348	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753035074 CA5880437	348	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1335211320 CA379636099	349	E>K		No	ClinGen TOPMed gnomAD
rs1003264651 CA217591957	350	S>N		No	ClinGen Ensembl
CA379636125 rs1361289694	350	S>R		No	ClinGen gnomAD
CA379636151 rs1260777243	352	Q>H		No	ClinGen gnomAD
rs377611356 CA5880439	352	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs750168553 CA5880440	355	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	356	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1055207838 CA217591961	358	V>M		No	ClinGen TOPMed gnomAD
CA379636237 rs1229263213	359	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	359	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	360	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5880457 rs550260792	361	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs777079521 CA5880458	363	E>K		No	ClinGen ExAC TOPMed gnomAD
rs766017333 CA5880460	367	S>P		No	ClinGen ExAC gnomAD
rs751145309 CA5880461	368	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5880462 rs754570139	368	R>H		No	ClinGen ExAC TOPMed gnomAD
rs748008841 CA217595880	370	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	371	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752694843 CA5880464	372	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1590046570 CA379637253	373	E>G		No	ClinGen Ensembl
rs755976084 CA5880465	374	K>E		No	ClinGen ExAC TOPMed gnomAD
CA5880466 rs777556056 COSM933682	374	K>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs749032877 CA5880467	375	K>R		No	ClinGen ExAC gnomAD
CA5880468 rs757451565	376	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5880469 rs200743817	376	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA
CA379637301 rs1210479901	378	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA217595908 rs371567638	379	T>A		No	ClinGen ESP TOPMed
CA379637324 rs1292183844	381	V>E		No	ClinGen TOPMed gnomAD
CA379637326 rs1292183844	381	V>G		No	ClinGen TOPMed gnomAD
TCGA novel	382	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5880470 rs375914980	384	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA217595915 rs375914980	384	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA379637344 rs1252908613	384	Q>L		No	ClinGen gnomAD
rs772261605 CA5880471	385	A>P		No	ClinGen ExAC gnomAD
CA379637348 rs772261605	385	A>T		No	ClinGen ExAC gnomAD
CA5880472 rs775366538	385	A>V		No	ClinGen ExAC gnomAD
CA379637353 rs1458139021	386	R>K		No	ClinGen gnomAD
rs777169442 CA5880475	387	F>Y		No	ClinGen ExAC gnomAD
CA5880476 rs762312694	388	S>R		No	ClinGen ExAC gnomAD
CA379637401 rs774107184	391	L>M		No	ClinGen ExAC gnomAD
CA5880478 rs774107184	391	L>V		No	ClinGen ExAC gnomAD
COSM3810735 rs1590046631 CA379637407	392	E>K	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
CA5880479 rs376945906	396	L>P		No	ClinGen ESP ExAC gnomAD
rs567793877 CA379637981	398	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	399	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	399	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5880503 rs369952707	404	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5880502 rs373343224	404	Q>K		No	ClinGen ESP ExAC gnomAD
rs1175281616 CA379638068	404	Q>R		No	ClinGen TOPMed gnomAD
rs765091986 CA5880504	407	Q>E		No	ClinGen ExAC gnomAD
rs750134802 CA5880505	407	Q>R		No	ClinGen ExAC
CA379638106 rs1564834464	409	S>C		No	ClinGen Ensembl
CA5880506 rs758676027	413	E>K		No	ClinGen ExAC
rs780461006 CA5880507	414	Q>R		No	ClinGen ExAC gnomAD
CA5880509 rs372544545	418	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5880510 rs781421731	418	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA217597149 rs927050094	420	R>Q		No	ClinGen TOPMed gnomAD
CA5880511 rs199611519	420	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1313364013 CA379638245	424	D>N		No	ClinGen gnomAD
CA379638263 rs1329031140	425	M>T		No	ClinGen TOPMed
CA5880512 rs770145458	425	M>V		No	ClinGen ExAC gnomAD
CA379638297 rs1470575753	428	K>*		No	ClinGen gnomAD
CA5880514 rs749578135	430	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	431	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379638342 rs1249274791	432	A>P		No	ClinGen gnomAD
CA379638344 rs1249274791	432	A>S		No	ClinGen gnomAD
TCGA novel	435	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA217597225 rs962713705	440	R>Q		No	ClinGen Ensembl
CA5880517 rs377094519	440	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA5880519 rs768159143	442	D>E		No	ClinGen ExAC TOPMed gnomAD
CA5880518 rs760308079	442	D>H		No	ClinGen ExAC gnomAD
CA5880520 rs199561311	445	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5880521 rs761831452	445	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1160193025 CA379638504	447	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	451	A>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	451	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs924346667 CA217602735	461	R>T		No	ClinGen TOPMed
CA5880567 rs775633953	462	A>V		No	ClinGen ExAC gnomAD
CA379639488 rs1170160218	463	E>D		No	ClinGen gnomAD
rs1423748481 CA379639490	464	L>V		No	ClinGen gnomAD
CA5880568 rs760947467	465	E>K		No	ClinGen ExAC gnomAD
rs753905335 CA5880570	466	K>E		No	ClinGen ExAC TOPMed gnomAD
rs935699401 CA217602750	467	W>R		No	ClinGen TOPMed
rs762338219 CA5880571	468	H>Q		No	ClinGen ExAC gnomAD
rs765771750 CA5880572	469	L>S		No	ClinGen ExAC gnomAD
CA379639607 rs1365302619	470	E>K		No	ClinGen gnomAD
rs1169483663 CA379639659	474	A>T		No	ClinGen TOPMed
rs758817960 CA5880574	476	Q>*		No	ClinGen ExAC gnomAD
rs1344309987 CA379639695	476	Q>L		No	ClinGen gnomAD
rs1344309987 CA379639694	476	Q>R		No	ClinGen gnomAD
rs202018948 CA5880575	477	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA217602786 rs960064307	478	T>S		No	ClinGen TOPMed gnomAD
rs1267896775 CA379639729	479	E>K		No	ClinGen TOPMed gnomAD
CA217602801 rs147789282	480	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
COSM76645 rs147789282 CA5880577	480	A>V	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs764208019 CA217602816	483	Q>E		No	ClinGen TOPMed
rs1338620044 CA379639819	483	Q>H		No	ClinGen gnomAD
CA217602820 rs919687684	484	E>*		No	ClinGen Ensembl
CA5880580 rs770536877	484	E>D		No	ClinGen ExAC gnomAD
rs1195499031 CA379639832	484	E>G		No	ClinGen gnomAD
CA5880581 rs146669900	486	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA379639913 rs1431941416	489	R>C		No	ClinGen TOPMed gnomAD
CA5880583 rs753123282	489	R>H	Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1388997301 CA379639942	491	L>M		No	ClinGen gnomAD
rs760829863 CA5880585	495	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5880586 rs768881989	495	A>V		No	ClinGen ExAC
CA379640055 rs1377672527	497	Q>P		No	ClinGen TOPMed
rs761928917 CA5880588	498	E>K		No	ClinGen ExAC gnomAD
rs765284993 CA5880589	500	M>V		No	ClinGen ExAC gnomAD
TCGA novel	504	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA217602868 rs943703249	504	E>Q		No	ClinGen TOPMed gnomAD
CA379640196 rs415895	505	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_026717 rs415895 CA5880590	505	Q>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs415895 CA379640192	505	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5880591 rs763447096	507	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	508	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA217602876 rs75546077	509	E>K		No	ClinGen Ensembl
CA5880593 rs766662979	510	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5880594 rs755757769	510	R>Q		No	ClinGen ExAC gnomAD
CA5880592 rs766662979	510	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	512	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379640381 rs200767479	518	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200767479 CA5880598	518	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1352427429 CA379640460	520	V>A		No	ClinGen TOPMed
CA379640467 rs1169240440	521	K>R		No	ClinGen TOPMed
rs1164972775 CA379640508	527	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1388221489 CA379640524	529	N>S		No	ClinGen gnomAD
rs749430381 CA5880625	530	K>E		No	ClinGen ExAC gnomAD
TCGA novel	530	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379640555 rs140598962 CA217603603	533	S>R		No	ClinGen ESP TOPMed gnomAD
CA5880626 rs770895694	535	K>E		No	ClinGen ExAC gnomAD
rs774983267 CA5880627	540	H>Y		No	ClinGen ExAC gnomAD
CA217603623 rs930646437	542	E>*		No	ClinGen Ensembl
CA5880628 rs759958103	544	L>I		No	ClinGen ExAC gnomAD
TCGA novel	546	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379640652 rs1332420870	548	I>V		No	ClinGen gnomAD
CA5880647 rs746399941	551	G>D		No	ClinGen ExAC gnomAD
CA5880648 rs772659015	554	N>K		No	ClinGen ExAC gnomAD
TCGA novel	555	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5880649 rs776108924	556	H>N		No	ClinGen ExAC gnomAD
CA5880650 rs761170355	556	H>Q		No	ClinGen ExAC gnomAD
CA5880651 rs769127933	557	L>P		No	ClinGen ExAC TOPMed gnomAD
CA379641462 rs1443328506	564	A>V		No	ClinGen gnomAD
rs1406625517 CA379641473	565	A>G		No	ClinGen TOPMed
CA379641464 rs1456510140	565	A>T		No	ClinGen TOPMed
CA5880653 rs138131700	571	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	571	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774436139 CA217604183	574	R>T		No	ClinGen TOPMed gnomAD
rs765924802 CA379642005	582	K>N		No	ClinGen ExAC gnomAD
rs750981393 CA5880657	583	T>A		No	ClinGen ExAC gnomAD
rs373832108 CA379642009	583	T>I		No	ClinGen ESP TOPMed
CA217604211 rs373832108	583	T>S		No	ClinGen ESP TOPMed
rs759496998 CA5880658	584	T>M		No	ClinGen ExAC gnomAD

No associated diseases with Q9UH65

2 regional properties for Q9UH65

Type	Name	Position	InterPro Accession
domain	Pleckstrin homology domain	210 - 308	IPR001849
domain	EF-hand domain	7 - 42	IPR002048

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cell membrane Nucleus Cell projection, lamellipodium Cytoplasm, cytoskeleton	In resting B-cells it is localized mainly in the cytoplasm and upon cell activation it is recruited to the plasma membrane and then translocates to the nucleus (PubMed:10681448) In activated, class-switching B-cells it is associated with membrane IgG but not IgM (PubMed:10681448) Localized to loose actin filament arrays located behind actively extending lamellipodia (PubMed:12925760)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
calcium ion binding	Binding to a calcium ion (Ca2+).
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.

10 GO annotations of biological process

Name	Definition
actin filament bundle assembly	The assembly of actin filament bundles; actin filaments are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness.
isotype switching	The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus.
negative regulation of actin filament depolymerization	Any process that stops, prevents, or reduces the frequency, rate or extent of actin depolymerization.
negative regulation of cell-cell adhesion mediated by integrin	Any process that stops, prevents, or reduces the frequency, rate, or extent of cell-cell adhesion mediated by integrin.
negative regulation of peptidyl-serine dephosphorylation	Any process that stops, prevents or reduces the frequency, rate or extent of peptidyl-serine dephosphorylation.
positive regulation of actin filament bundle assembly	Any process that activates or increases the frequency, rate or extent of the assembly of actin filament bundles.
positive regulation of cytosolic calcium ion concentration	Any process that increases the concentration of calcium ions in the cytosol.
positive regulation of mast cell chemotaxis	Any process that increases the rate, frequency or extent of mast cell chemotaxis. Mast cell chemotaxis is the movement of a mast cell in response to an external stimulus.
regulation of protein localization	Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P0C1G6	SWAP70	Switch-associated protein 70	Bos taurus (Bovine)	PR

10	20	30	40	50	60
MGSLKEELLK	AIWHAFTALD	QDHSGKVSKS	QLKVLSHNLC	TVLKVPHDPV	ALEEHFRDDD
70	80	90	100	110	120
EGPVSNQGYM	PYLNRFILEK	VQDNFDKIEF	NRMCWTLCVK	KNLTKNPLLI	TEEDAFKIWV
130	140	150	160	170	180
IFNFLSEDKY	PLIIVSEEIE	YLLKKLTEAM	GGGWQQEQFE	HYKINFDDSK	NGLSAWELIE
190	200	210	220	230	240
LIGNGQFSKG	MDRQTVSMAI	NEVFNELILD	VLKQGYMMKK	GHRRKNWTER	WFVLKPNIIS
250	260	270	280	290	300
YYVSEDLKDK	KGDILLDENC	CVESLPDKDG	KKCLFLVKCF	DKTFEISASD	KKKKQEWIQA
310	320	330	340	350	360
IHSTIHLLKL	GSPPPHKEAR	QRRKELRKKQ	LAEQEELERQ	MKELQAANES	KQQELEAVRK
370	380	390	400	410	420
KLEEAASRAA	EEEKKRLQTQ	VELQARFSTE	LEREKLIRQQ	MEEQVAQKSS	ELEQYLQRVR
430	440	450	460	470	480
ELEDMYLKLQ	EALEDERQAR	QDEETVRKLQ	ARLLEEESSK	RAELEKWHLE	QQQAIQTTEA
490	500	510	520	530	540
EKQELENQRV	LKEQALQEAM	EQLEQLELER	KQALEQYEEV	KKKLEMATNK	TKSWKDKVAH
550	560	570	580
HEGLIRLIEP	GSKNPHLITN	WGPAAFTEAE	LEEREKNWKE	KKTTE