AiPD: Autoinhibited Protein Database

Q96RU3

Gene name	FNBP1 (FBP17, KIAA0554)
Protein name	Formin-binding protein 1
Names	Formin-binding protein 17, hFBP17
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23048
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

120-209 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

120-209 (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 Q96RU3

Entry ID	Method	Resolution	Chain	Position	Source
2EFL	X-ray	261 A	A	1-300	PDB
AF-Q96RU3-F1	Predicted				AlphaFoldDB

415 variants for Q96RU3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA375212900 rs1589459677	2	S>R		No	ClinGen Ensembl
rs553871810 CA200569999	2	S>T		No	ClinGen 1000Genomes
CA375212882 rs1350672649	3	W>C		No	ClinGen gnomAD
rs907425574 CA375212873	4	G>D		No	ClinGen TOPMed gnomAD
CA5280901 rs534056881	4	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs907425574 CA200569984	4	G>V		No	ClinGen TOPMed gnomAD
CA375192031 rs1207930779	12	D>E		No	ClinGen gnomAD
CA375191969 rs1251744795	15	E>Q		No	ClinGen TOPMed
rs1451856214 CA375191947	16	K>E		No	ClinGen TOPMed
TCGA novel	16	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1564527789 CA375191866	18	T>S		No	ClinGen Ensembl
rs1564527749 CA375191842	19	Q>K		No	ClinGen Ensembl
COSM1661885 CA5280886 rs374613103 CA5280887	20	W>C	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1564527697 CA375191783	20	W>L		No	ClinGen Ensembl
CA5280888 rs757450447 CA375191807	20	W>R		No	ClinGen ExAC gnomAD
rs1564527640 CA375191758	21	G>*		No	ClinGen Ensembl
CA375191749 rs1564527620	21	G>A		No	ClinGen Ensembl
rs1564527603 CA375191716	22	I>T		No	ClinGen Ensembl
rs752669042 CA5280884	24	I>M		No	ClinGen ExAC gnomAD
CA375191669 rs1165737418	24	I>N		No	ClinGen TOPMed
rs758336640 CA5280885	24	I>V		No	ClinGen ExAC TOPMed gnomAD
CA375191646 rs1404481483	25	L>F		No	ClinGen gnomAD
rs200069723 CA200579377	26	E>V		No	ClinGen TOPMed
rs1461824634 CA375191545	28	Y>C		No	ClinGen TOPMed
rs879598619 CA200579358	29	I>S		No	ClinGen Ensembl
rs1430358137 CA375191479	30	K>R		No	ClinGen TOPMed gnomAD
rs965808995 CA200579351	40	L>F		No	ClinGen gnomAD
CA5280882 rs754417884	42	Y>C		No	ClinGen ExAC gnomAD
rs753352344 CA5280881	43	A>S		No	ClinGen ExAC gnomAD
CA5280861 rs779607974	48	N>Y		No	ClinGen ExAC
rs566805123 CA200565741	52	K>R		No	ClinGen Ensembl
TCGA novel	53	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	55	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755651293 CA5280860	56	K>R		No	ClinGen ExAC gnomAD
rs1257329992 CA375185712	59	S>L		No	ClinGen TOPMed gnomAD
rs753021869 CA5280854	65	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA5280855 rs761478038	65	Y>H		No	ClinGen ExAC gnomAD
rs374539988 CA5280837	68	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1564486932 CA375184927	70	C>R		No	ClinGen Ensembl
CA375184922 rs1358503894	70	C>Y		No	ClinGen gnomAD
rs754337917 CA5280833	71	K>N		No	ClinGen ExAC gnomAD
rs1022291851 CA200565158	74	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs761284720 CA5280831	75	S>A		No	ClinGen ExAC gnomAD
rs1011940955 CA200565149	75	S>C		No	ClinGen TOPMed gnomAD
rs1011940955 CA375184704	75	S>Y		No	ClinGen TOPMed gnomAD
CA5280828 rs762065602	76	N>I		No	ClinGen ExAC TOPMed gnomAD
CA5280829 rs762065602	76	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5280830 rs762065602	76	N>T		No	ClinGen ExAC TOPMed gnomAD
rs758858855 CA375184631	78	N>K		No	ClinGen ExAC TOPMed gnomAD
CA5280826 rs560501496	78	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5280823 rs369750822	79	E>A		No	ClinGen ESP ExAC gnomAD
CA5280824 rs775380196 COSM204105	79	E>K	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs745812048 CA5280822	81	N>S		No	ClinGen ExAC gnomAD
CA375184275 rs1354721642	89	V>I		No	ClinGen TOPMed
CA5280819 rs746669605	92	E>K		No	ClinGen ExAC gnomAD
rs1289591607 CA375184139	95	A>T		No	ClinGen gnomAD
rs777330159 CA5280817	96	S>L		No	ClinGen ExAC gnomAD
rs1286350284 CA375184081	98	I>N		No	ClinGen TOPMed
rs756620156 CA5280813	99	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1361638591 CA375184040	99	I>T		No	ClinGen gnomAD
CA5280814 rs766794593	99	I>V		No	ClinGen ExAC gnomAD
CA5280812 rs750976855	100	V>A		No	ClinGen ExAC gnomAD
CA5280811 rs767687205	101	D>Y		No	ClinGen ExAC gnomAD
CA5280810 rs762028793	103	A>T		No	ClinGen ExAC TOPMed gnomAD
rs774615028 CA5280809 COSM1105961	104	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs764177369 CA5280808 COSM1742084	104	R>H	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs774615028 CA375183970	104	R>S		No	ClinGen ExAC gnomAD
CA375183950 rs1172028999	105	Y>C		No	ClinGen gnomAD
rs1426387496 CA375183872	108	E>K		No	ClinGen gnomAD
rs372236726 CA5280793	117	F>L		No	ClinGen ESP ExAC gnomAD
CA375178837 rs1175557567	119	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA200556487 rs993834977	121	R>C		No	ClinGen TOPMed gnomAD
CA375178778 rs993834977	121	R>G		No	ClinGen TOPMed gnomAD
CA5280790 COSM1460463 rs750439648	121	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs764240434 CA5280789	122	K>I		No	ClinGen ExAC gnomAD
rs763028468 CA5280788	125	Q>H		No	ClinGen ExAC gnomAD
CA375178704 rs1238243900	125	Q>R		No	ClinGen gnomAD
COSM260972 CA375178549 rs1229484923	128	E>D	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA375178629 rs1262931561	128	E>K		No	ClinGen TOPMed gnomAD
CA5280786 rs765012836	131	W>*		No	ClinGen ExAC gnomAD
rs759776571 CA5280763	140	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs370647443 CA5280762	140	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370647443 CA5280761	140	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5280760 rs760469089 COSM1105957	143	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5280759 rs555352093	143	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761422735 CA5280757	144	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5280756 rs774024806	145	C>R		No	ClinGen ExAC gnomAD
rs1442921560 CA375177658	146	K>E		No	ClinGen gnomAD
rs888729663 CA200556362	146	K>N		No	ClinGen Ensembl
rs748956413 CA5280755	148	A>E		No	ClinGen ExAC gnomAD
TCGA novel	148	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5280754 rs748956413	148	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs771386836 CA5280752	149	D>E		No	ClinGen ExAC gnomAD
CA375177636 rs1430626231	149	D>G		No	ClinGen gnomAD
CA375177632 rs1261338563	150	R>G		No	ClinGen TOPMed
rs747467671 COSM1105955 CA5280751	151	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5280749 rs758384992	152	Q>R		No	ClinGen ExAC gnomAD
CA5280748 rs752725363	154	Y>F		No	ClinGen ExAC gnomAD
CA375177531 rs1190528522	157	K>I		No	ClinGen TOPMed
rs1313878503 CA375177504	158	M>I		No	ClinGen gnomAD
rs374689208 CA375177484	159	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200418146 CA375177479	160	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs200418146 CA5280745	160	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA5280743 rs766071956	163	N>S		No	ClinGen ExAC gnomAD
rs767444264 CA5280740	167	A>V		No	ClinGen ExAC gnomAD
CA375177376 rs1158574790	168	D>G		No	ClinGen TOPMed
CA200553302 rs765025967	173	R>*		No	ClinGen Ensembl
rs1221540594 CA375191974	173	R>Q		No	ClinGen TOPMed gnomAD
CA375191896 rs1280124317	177	Q>H		No	ClinGen gnomAD
TCGA novel	179	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1176252800 CA375191844	179	R>H		No	ClinGen TOPMed
rs754945482 CA200553301	185	D>G		No	ClinGen TOPMed
TCGA novel	187	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772334866 CA200553300	189	D>A		No	ClinGen ExAC TOPMed gnomAD
CA5280711 rs772334866	189	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1445060725 CA375191576	189	D>N		No	ClinGen TOPMed
rs748638320 CA5280710	193	I>T		No	ClinGen ExAC gnomAD
CA375191503 rs1299077954	193	I>V		No	ClinGen TOPMed
CA375191398 rs1322656360	198	N>S		No	ClinGen gnomAD
rs1409331544 CA375191374	199	H>R		No	ClinGen gnomAD
CA375191380 rs1588628569	199	H>Y		No	ClinGen Ensembl
rs1564358667 CA375191294	202	H>R		No	ClinGen Ensembl
TCGA novel	204	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA200553298 rs897195823	206	H>R		No	ClinGen TOPMed gnomAD
CA375191160 rs1268695898	207	T>I		No	ClinGen gnomAD
rs1470858407 CA375191143	208	H>R		No	ClinGen gnomAD
CA375191051 rs1361585048	211	N>S		No	ClinGen gnomAD
rs139863276 CA5280697	216	I>M		No	ClinGen 1000Genomes ExAC gnomAD
CA375190428 rs1223295821	216	I>T		No	ClinGen gnomAD
CA5280696 rs752210178	217	Q>*		No	ClinGen ExAC gnomAD
CA5280695 rs41279170	218	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA5280693 rs753490934	222	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5280691 rs762203452	224	I>T		No	ClinGen ExAC gnomAD
rs774813133 CA5280690	225	V>A		No	ClinGen ExAC gnomAD
rs368874283 CA200552891	227	M>I		No	ClinGen ESP
rs1366931076 CA375190239	236	E>A		No	ClinGen gnomAD
rs775586594 CA5280687	239	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA375190219 rs745873678	239	R>W		No	ClinGen ExAC TOPMed gnomAD
rs769825547 CA5280686	240	Q>H		No	ClinGen ExAC gnomAD
CA375190205 rs746100786	241	V>A		No	ClinGen ExAC gnomAD
rs746100786 CA5280685	241	V>G		No	ClinGen ExAC gnomAD
CA5280684 rs781310995	242	I>T		No	ClinGen ExAC
rs1474335704 CA375190203	242	I>V		No	ClinGen gnomAD
rs770827291 CA5280683	243	P>A		No	ClinGen ExAC gnomAD
rs770827291 CA200552881	243	P>S		No	ClinGen ExAC gnomAD
rs977733875 CA200552878	246	G>A		No	ClinGen TOPMed
rs777741397 CA375190180 CA5280681	246	G>R		No	ClinGen ExAC gnomAD
CA375190175 rs1289704803	247	K>E		No	ClinGen gnomAD
rs1308296090 CA375190119	255	A>P		No	ClinGen gnomAD
CA5280678 COSM3432913 rs778471637	257	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA375190096 rs1284441885	258	S>L		No	ClinGen gnomAD
rs1485778781 CA375190094	259	I>V		No	ClinGen TOPMed
CA5280676 rs753495723	260	D>V		No	ClinGen ExAC gnomAD
rs991955698 CA200552869	260	D>Y		No	ClinGen Ensembl
rs1346783174 CA375190075	261	Q>H		No	ClinGen gnomAD
rs376783521 CA5280675	263	N>K		No	ClinGen ExAC gnomAD
rs1322024739 CA375189363	274	S>L		No	ClinGen gnomAD
CA375189356 rs1283269826	275	G>V		No	ClinGen gnomAD
CA5280662 rs777651562	276	F>L		No	ClinGen ExAC gnomAD
rs199820551 CA5280661	278	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778751502 CA5280659	281	D>E		No	ClinGen ExAC gnomAD
rs1337144343 CA375189291	281	D>N		No	ClinGen gnomAD
rs200780992 CA5280657	282	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754484865 CA5280658	282	I>T		No	ClinGen ExAC gnomAD
rs755707936 CA5280655	286	D>N		No	ClinGen ExAC gnomAD
TCGA novel	287	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375189154 rs1331891024	288	T>A		No	ClinGen Ensembl
rs1331891024 CA375189155	288	T>P		No	ClinGen Ensembl
CA375189137 rs1175642570	290	P>R		No	ClinGen TOPMed gnomAD
rs764441806 CA5280653	291	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM204087 CA5280652 rs758733709	293	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5280651 rs191141789	293	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5280650 rs191141789	293	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1255884910 CA375189109 CA375189108	295	V>L		No	ClinGen TOPMed gnomAD
rs776784384 CA5280648	296	S>A		No	ClinGen ExAC gnomAD
CA200552395 rs966573281	296	S>L		No	ClinGen TOPMed
rs766578268 CA5280647	299	S>N		No	ClinGen ExAC gnomAD
rs1484489174 CA375189029	302	N>K		No	ClinGen TOPMed
TCGA novel	304	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368423881 CA5280646	305	G>E		No	ClinGen ESP ExAC gnomAD
rs777423514 CA5280645	306	E>K		No	ClinGen ExAC TOPMed gnomAD
rs777423514 CA375188991	306	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1454350135 CA375188965	307	G>A		No	ClinGen gnomAD
rs771866859 CA5280644	309	P>S		No	ClinGen ExAC gnomAD
CA375188922 rs1343706806	310	D>A		No	ClinGen Ensembl
CA375188905 rs1256141387	311	L>V		No	ClinGen TOPMed
CA375188806 rs199797411	316	K>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199797411 CA5280641	316	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1439222873 CA375188778	317	S>F		No	ClinGen gnomAD
CA200552378 rs906559860	319	G>E		No	ClinGen gnomAD
rs1588586691 CA375188745	319	G>R		No	ClinGen Ensembl
rs1157487457 CA375188673	322	W>R		No	ClinGen TOPMed
CA375188621 rs1255922469	323	P>L		No	ClinGen gnomAD
CA5280636 rs780873303	328	N>D		No	ClinGen ExAC gnomAD
rs771301424	328	N>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	328	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1264547333 CA375188250	330	L>F		No	ClinGen gnomAD
rs1337620955 CA375188202	331	M>T		No	ClinGen TOPMed
CA200552111 rs947038235	332	S>Y		No	ClinGen gnomAD
CA200552109 rs914268970	333	L>V		No	ClinGen Ensembl
CA200552106 rs973765033	336	S>P		No	ClinGen Ensembl
rs562591194 CA5280617	336	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375188053 rs1190424378	338	H>P		No	ClinGen TOPMed gnomAD
rs1588579519 CA375188031	338	H>Q		No	ClinGen Ensembl
CA375187988 rs1484884093	340	P>L		No	ClinGen gnomAD
CA375187994 rs1346160548	340	P>S		No	ClinGen TOPMed gnomAD
CA5280613 rs780787179	344	P>H		No	ClinGen ExAC TOPMed gnomAD
CA375187876 rs780787179	344	P>L		No	ClinGen ExAC TOPMed gnomAD
CA375187878 rs780787179	344	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1168754798 CA375187882	344	P>S		No	ClinGen TOPMed gnomAD
rs1168754798 CA375187895	344	P>T		No	ClinGen TOPMed gnomAD
rs200818836 CA5280609	346	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5280610 rs373514992	346	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5280611 rs373514992	346	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs776605549 CA200552085	348	A>T		No	ClinGen Ensembl
CA375187793 rs1588578996	349	S>P		No	ClinGen Ensembl
CA200552081 rs377419359	350	P>S		No	ClinGen Ensembl
rs754365231 CA5280608	351	S>P		No	ClinGen ExAC gnomAD
CA375187704 rs868516855	352	A>S		No	ClinGen Ensembl
rs868516855 CA200552077	352	A>T		No	ClinGen Ensembl
rs1400542899 CA375187654	355	N>H		No	ClinGen TOPMed
rs1266185134 CA375187621	356	G>D		No	ClinGen gnomAD
rs1324456465 CA375187578	358	Q>P		No	ClinGen TOPMed
rs750487484 CA5280604	361	K>R		No	ClinGen ExAC gnomAD
CA5280603 rs767636435	362	Q>E		No	ClinGen ExAC gnomAD
rs1231121213 CA375187322	367	L>F		No	ClinGen gnomAD
CA375187312 rs1588578410	367	L>P		No	ClinGen Ensembl
rs928419156 CA200552065	368	S>P		No	ClinGen gnomAD
CA375187255 rs4836680 CA375187253	369	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5280600 rs578112983	370	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs578112983 CA375187252	370	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5280597 rs368984808	373	E>G		No	ClinGen ESP ExAC gnomAD
rs775287536 CA5280598	373	E>K		No	ClinGen ExAC TOPMed gnomAD
CA375187177 rs1260345175	374	F>L		No	ClinGen TOPMed
TCGA novel	374	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1171375880 CA375187124	378	K>E		No	ClinGen gnomAD
rs1171375880 CA375187125	378	K>Q		No	ClinGen gnomAD
rs201006816 CA5280596	382	H>R		No	ClinGen ExAC TOPMed gnomAD
rs770530521 CA5280594	384	F>L		No	ClinGen ExAC gnomAD
CA375187015 rs1236048050	385	R>S		No	ClinGen gnomAD
rs375770700 CA5280593	386	S>T		No	ClinGen ESP ExAC gnomAD
CA375186968 rs1264884350	389	R>C	Variant assessed as Somatic; 4.972e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs769119862 CA5280591	389	R>H		No	ClinGen ExAC TOPMed gnomAD
CA200552048 rs769119862	389	R>L		No	ClinGen ExAC TOPMed gnomAD
rs368231369 CA375184938	391	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs368231369 CA5280567	391	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs747804961 CA5280565	393	L>P		No	ClinGen ExAC gnomAD
CA5280564 rs780505862	394	K>R		No	ClinGen ExAC gnomAD
CA200549893 rs568818574	395	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5280563 rs568818574	395	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375182783 rs1238053810	396	G>S		No	ClinGen TOPMed
rs1311852441 CA375182762	397	A>P		No	ClinGen gnomAD
rs1311852441 CA375182766	397	A>T		No	ClinGen gnomAD
rs755926087 CA5280503	398	T>A		No	ClinGen ExAC gnomAD
CA5280500 rs757294604	399	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs371128214 CA5280501	399	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA375182692 rs1564294730	401	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs763525610 CA5280498	404	N>H		No	ClinGen ExAC gnomAD
CA200547842 rs771396958	404	N>K		No	ClinGen Ensembl
rs1256433705 CA375182592	406	P>A		No	ClinGen gnomAD
rs762654715 CA5280497	406	P>L		No	ClinGen ExAC gnomAD
CA375182578 rs1175260019	407	P>S		No	ClinGen TOPMed
rs752360630 CA5280496	408	E>A		No	ClinGen ExAC
CA375182491 rs1368268030	410	R>G		No	ClinGen gnomAD
rs199744723 CA5280495	411	R>K		No	ClinGen ExAC TOPMed gnomAD
rs761074963 CA5280494	414	L>Q		No	ClinGen ExAC gnomAD
CA200547833 rs1000865537	415	Q>H		No	ClinGen Ensembl
CA375182294 rs1353813733	419	D>A		No	ClinGen TOPMed
rs1190854882 CA375182311	419	D>N		No	ClinGen gnomAD
rs772527451 CA5280492	422	N>D		No	ClinGen ExAC gnomAD
rs1439891376 CA375182258	422	N>S		No	ClinGen TOPMed
CA200547825 rs903469566	423	K>R		No	ClinGen Ensembl
rs762307885 CA5280491	426	Q>R		No	ClinGen ExAC gnomAD
CA5280488 rs749518648	429	M>I		No	ClinGen ExAC gnomAD
CA5280489 rs77988508	429	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1487348079 CA375182204	429	M>V		No	ClinGen gnomAD
rs1222738332 CA375182191	430	D>E		No	ClinGen TOPMed
rs1319894127 CA375182190	431	Q>E		No	ClinGen gnomAD
rs768747121 CA5280468	435	I>L		No	ClinGen ExAC TOPMed gnomAD
rs768747121 CA200546216	435	I>V		No	ClinGen ExAC TOPMed gnomAD
CA200546214 rs1049059845	436	T>I		No	ClinGen Ensembl
TCGA novel	438	M>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375181489 rs1310320527	440	D>Y		No	ClinGen gnomAD
rs540509107 CA5280464	443	L>V		No	ClinGen ExAC TOPMed gnomAD
CA375181364 rs1405065063	446	P>R		No	ClinGen gnomAD
rs1588405480 CA375181322	448	M>R		No	ClinGen Ensembl
CA375181287 rs1588405418	450	D>A		No	ClinGen Ensembl
CA5280462 rs776554206	450	D>N		No	ClinGen ExAC gnomAD
CA375181274 rs1464146334	451	P>A		No	ClinGen gnomAD
rs770917261 CA5280461	452	A>D		No	ClinGen ExAC TOPMed gnomAD
rs769453905 CA200546202	453	S>C		No	ClinGen Ensembl
rs1298294311 CA375181226	454	L>V		No	ClinGen TOPMed
CA5280460 rs746914280	455	D>N		No	ClinGen ExAC gnomAD
rs758381289 CA5280458	457	K>R		No	ClinGen ExAC TOPMed gnomAD
CA200546196 rs368491519	458	L>F		No	ClinGen Ensembl
rs1177851443 CA375181096	460	E>K		No	ClinGen gnomAD
CA200546194 rs972182336	463	Q>K		No	ClinGen Ensembl
CA200546192 rs867411933	464	N>S		No	ClinGen Ensembl
rs556090035 CA5280456	465	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767860797 CA5280453	466	E>G		No	ClinGen ExAC TOPMed gnomAD
CA5280455 rs753543492	466	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5280454 rs753543492	466	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	468	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375180907 rs1242601997	469	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5280452 rs751979219	469	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5280451 rs751979219	469	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1356150603 CA375180859	472	T>P		No	ClinGen TOPMed
TCGA novel	474	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763524831 CA5280449	475	F>S		No	ClinGen ExAC
TCGA novel	475	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5280436 rs111319812	477	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000956756 rs111319812 CA5280435	477	A>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA375180449 rs1358204497	477	A>T		No	ClinGen gnomAD
rs1405693568 CA375180430	478	W>C		No	ClinGen TOPMed gnomAD
rs1161319259 CA375180422	480	A>T		No	ClinGen TOPMed gnomAD
rs1474836026 CA375180400	482	V>I		No	ClinGen TOPMed gnomAD
CA5280433 rs764532868	483	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1201297939 CA375180377	484	G>D		No	ClinGen TOPMed
rs574719725 CA5280431	485	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5280430 rs765380408	485	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs574719725 CA5280432	485	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5280429 rs759741577	487	P>T		No	ClinGen ExAC gnomAD
rs367878072 CA200545671	489	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA5280428 rs753995539	489	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA375180352 rs753995539	489	R>L		No	ClinGen ExAC TOPMed gnomAD
VAR_029388 rs1023000 CA5280426	490	S>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA375180345 rs892285187 CA375180346	490	S>R		No	ClinGen gnomAD
rs1023000 CA375180348	490	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5280425 rs541597740	491	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371932612 CA5280424	493	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs774310830 CA5280422	494	R>C		No	ClinGen ExAC TOPMed gnomAD
rs768130616 CA5280421	494	R>H		No	ClinGen ExAC gnomAD
CA375180317 rs1400900691	495	R>Q		No	ClinGen gnomAD
rs779545854 CA5280419	495	R>W		No	ClinGen ExAC gnomAD
rs374564198 CA5280417	497	S>N		No	ClinGen ESP ExAC gnomAD
CA375180300 rs778000510	498	G>*		No	ClinGen ExAC TOPMed gnomAD
rs1479122854 CA375180299	498	G>E		No	ClinGen gnomAD
rs778000510 CA5280416	498	G>R		No	ClinGen ExAC TOPMed gnomAD
rs552645500 CA5280413	501	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs552645500 CA375180283	501	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs552645500 CA5280414	501	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs755571290 CA5280412	502	S>G		No	ClinGen ExAC gnomAD
CA5280411 rs753900226	502	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1564266401 CA375180267	503	Q>P		No	ClinGen Ensembl
CA375180253 rs1364590080	505	P>S		No	ClinGen TOPMed gnomAD
CA5280408 rs750723554	508	V>I		No	ClinGen ExAC gnomAD
rs1271670841 CA375180224	509	N>D		No	ClinGen gnomAD
rs1273362327 CA375180192	511	C>R		No	ClinGen TOPMed
CA5280407 rs767185137	511	C>S		No	ClinGen ExAC gnomAD
CA5280405 rs200153012	512	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5280404 rs200153012	512	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1439839279 CA375180138	514	D>E		No	ClinGen gnomAD
CA375180132 rs1377393553	515	R>C		No	ClinGen gnomAD
rs1333217322 CA375180129	515	R>H		No	ClinGen gnomAD
CA200545642 rs1050381060	516	E>K		No	ClinGen TOPMed
CA200545640 rs751833858	517	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs757427206 CA5280389	519	D>E		No	ClinGen ExAC gnomAD
TCGA novel	520	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1184132946 CA375180033	521	S>G		No	ClinGen gnomAD
rs763936220 CA5280387	523	T>K		No	ClinGen ExAC gnomAD
CA375179950 rs1483053679	526	Q>K		No	ClinGen TOPMed
CA5280386 rs201789489	529	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA375179847 rs1287770292	532	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	533	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375179829 rs1481195144	533	K>R		No	ClinGen TOPMed
rs775451050 CA5280385	535	L>V		No	ClinGen ExAC gnomAD
CA5280383 rs759041250	537	T>M		No	ClinGen ExAC TOPMed gnomAD
rs760390975 CA5280381	538	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1312332912 CA375179762	539	F>I		No	ClinGen gnomAD
rs746669309 CA5280380 CA200545557	539	F>L		No	ClinGen ExAC gnomAD
rs138991769 CA375179743	540	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA200545551 rs975623235	541	D>G		No	ClinGen Ensembl
rs370514877 CA5280378	541	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs780658536 CA5280376	546	E>D		No	ClinGen ExAC gnomAD
CA375179655 rs1305922520	547	E>A		No	ClinGen TOPMed
CA5280375 rs756600753	547	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1422570514 CA375179634	549	L>F		No	ClinGen gnomAD
rs201093142 CA5280374	549	L>P		No	ClinGen ExAC gnomAD
CA5280373 rs781146545	551	A>S		No	ClinGen ExAC gnomAD
CA375179606 rs781146545 COSM268394	551	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA375179561 rs757458862	554	T>K		No	ClinGen ExAC TOPMed gnomAD
CA5280372 rs757458862	554	T>M		No	ClinGen ExAC TOPMed gnomAD
rs758242445 CA5280370	557	A>S		No	ClinGen ExAC TOPMed gnomAD
rs758242445 CA5280369	557	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1229696705 CA375179525	558	L>V		No	ClinGen TOPMed
rs770279108 CA5280358	564	Q>H		No	ClinGen ExAC gnomAD
CA5280359 rs775746582	564	Q>R		No	ClinGen ExAC gnomAD
CA375178604 rs1320009584	565	N>S		No	ClinGen gnomAD
CA375178547 rs1249683865	568	T>M		No	ClinGen TOPMed gnomAD
CA5280355 rs747213580	571	V>I		No	ClinGen ExAC TOPMed gnomAD
rs747213580 CA5280354	571	V>L		No	ClinGen ExAC TOPMed gnomAD
rs777926723 CA5280353	573	E>A		No	ClinGen ExAC gnomAD
CA5280352 rs533472716	574	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA375178396 rs1395043443	576	T>A		No	ClinGen TOPMed gnomAD
rs756715509 CA200544641	579	V>I		No	ClinGen Ensembl
rs778583569 CA5280350	580	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	581	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375178149 rs1564249806	586	D>N		No	ClinGen Ensembl
CA375178074 rs1177816497	590	R>C		No	ClinGen TOPMed gnomAD
rs753782222 CA5280348	590	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5280347 rs369400982	591	I>V		No	ClinGen ExAC TOPMed gnomAD
rs374562503 COSM3699468 CA5280345	592	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5280346 rs760309443	592	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1195025233 CA375177987	595	E>D		No	ClinGen TOPMed gnomAD
CA5280343 rs544636539	596	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202110448 CA200544626	598	E>G		No	ClinGen Ensembl
rs775911608 CA5280342	600	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	603	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375177855 rs1310438349	604	S>L		No	ClinGen gnomAD
rs1328808474 CA375177840 COSM1105941	607	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA375177807 rs1380697721	611	D>G		No	ClinGen TOPMed
rs771453358 CA5280338	612	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA375177796 rs1311889594	613	N>D		No	ClinGen TOPMed
CA375177778 rs1432472948	615	K>R		No	ClinGen TOPMed gnomAD
rs771363403 CA5280310	617	S>C		No	ClinGen ExAC gnomAD

No associated diseases with Q96RU3

2 regional properties for Q96RU3

Type	Name	Position	InterPro Accession
domain	Far11/STRP, N-terminal	65 - 363	IPR012486
domain	Far11/STRP, C-terminal	437 - 817	IPR021819

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cytoplasm, cytoskeleton Cytoplasm, cell cortex Lysosome Cytoplasmic vesicle Cell membrane; Peripheral membrane protein; Cytoplasmic side Membrane, clathrin-coated pit	Enriched in cortical regions coincident with F-actin Also localizes to endocytic vesicles and lysosomes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
cell cortex	The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
clathrin-coated pit	A part of the endomembrane system in the form of an invagination of a membrane upon which a clathrin coat forms, and that can be converted by vesicle budding into a clathrin-coated vesicle. Coated pits form on the plasma membrane, where they are involved in receptor-mediated selective transport of many proteins and other macromolecules across the cell membrane, in the trans-Golgi network, and on some endosomes.
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
lysosome	A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.
lipid binding	Binding to a lipid.

2 GO annotations of biological process

Name	Definition
endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q7Z6B7	SRGAP1	SLIT-ROBO Rho GTPase-activating protein 1	Homo sapiens (Human)	PR
O75044	SRGAP2	SLIT-ROBO Rho GTPase-activating protein 2	Homo sapiens (Human)	PR
Q5T0N5	FNBP1L	Formin-binding protein 1-like	Homo sapiens (Human)	PR
O94868	FCHSD2	F-BAR and double SH3 domains protein 2	Homo sapiens (Human)	PR
Q91Z69	Srgap1	SLIT-ROBO Rho GTPase-activating protein 1	Mus musculus (Mouse)	PR
Q3USJ8	Fchsd2	F-BAR and double SH3 domains protein 2	Mus musculus (Mouse)	PR
Q6PFY1	Fchsd1	F-BAR and double SH3 domains protein 1	Mus musculus (Mouse)	PR
Q812A2	Srgap3	SLIT-ROBO Rho GTPase-activating protein 3	Mus musculus (Mouse)	PR
Q91Z67	Srgap2	SLIT-ROBO Rho GTPase-activating protein 2	Mus musculus (Mouse)	PR
Q8K012	Fnbp1l	Formin-binding protein 1-like	Mus musculus (Mouse)	PR
Q8CJ53	Trip10	Cdc42-interacting protein 4	Mus musculus (Mouse)	PR
Q80TY0	Fnbp1	Formin-binding protein 1	Mus musculus (Mouse)	PR
D4A208	Srgap2	SLIT-ROBO Rho GTPase-activating protein 2	Rattus norvegicus (Rat)	PR
Q2HWF0	Fnbp1l	Formin-binding protein 1-like	Rattus norvegicus (Rat)	PR
Q8R511	Fnbp1	Formin-binding protein 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MSWGTELWDQ	FDNLEKHTQW	GIDILEKYIK	FVKERTEIEL	SYAKQLRNLS	KKYQPKKNSK
70	80	90	100	110	120
EEEEYKYTSC	KAFISNLNEM	NDYAGQHEVI	SENMASQIIV	DLARYVQELK	QERKSNFHDG
130	140	150	160	170	180
RKAQQHIETC	WKQLESSKRR	FERDCKEADR	AQQYFEKMDA	DINVTKADVE	KARQQAQIRH
190	200	210	220	230	240
QMAEDSKADY	SSILQKFNHE	QHEYYHTHIP	NIFQKIQEME	ERRIVRMGES	MKTYAEVDRQ
250	260	270	280	290	300
VIPIIGKCLD	GIVKAAESID	QKNDSQLVIE	AYKSGFEPPG	DIEFEDYTQP	MKRTVSDNSL
310	320	330	340	350	360
SNSRGEGKPD	LKFGGKSKGK	LWPFIKKNKL	MSLLTSPHQP	PPPPPASASP	SAVPNGPQSP
370	380	390	400	410	420
KQQKEPLSHR	FNEFMTSKPK	IHCFRSLKRG	LSLKLGATPE	DFSNLPPEQR	RKKLQQKVDE
430	440	450	460	470	480
LNKEIQKEMD	QRDAITKMKD	VYLKNPQMGD	PASLDHKLAE	VSQNIEKLRV	ETQKFEAWLA
490	500	510	520	530	540
EVEGRLPARS	EQARRQSGLY	DSQNPPTVNN	CAQDRESPDG	SYTEEQSQES	EMKVLATDFD
550	560	570	580	590	600
DEFDDEEPLP	AIGTCKALYT	FEGQNEGTIS	VVEGETLYVI	EEDKGDGWTR	IRRNEDEEGY
610
VPTSYVEVCL	DKNAKDS