AiPD: Autoinhibited Protein Database

Q96I24

Gene name	FUBP3 (FBP3)
Protein name	Far upstream element-binding protein 3
Names	FUSE-binding protein 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8939
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

11-93 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

11-93 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q96I24

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96I24-F1	Predicted				AlphaFoldDB

407 variants for Q96I24

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA375238029 rs1474488757	2	A>V		No	ClinGen gnomAD
rs1401240705 CA375238077	6	Q>*		No	ClinGen gnomAD
rs1254597993 CA375238095	7	G>E		No	ClinGen TOPMed
rs1472061608 CA375238085	7	G>R		No	ClinGen TOPMed
rs1482455230 CA375238126	9	S>N		No	ClinGen TOPMed
CA375238152 rs1223401872	11	P>L		No	ClinGen TOPMed
rs1433575624 CA375238150	11	P>S		No	ClinGen gnomAD
COSM1173457 rs1288806922 CA375238172	13	G>R	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
CA200614582 rs13302521	17	E>*		No	ClinGen gnomAD
rs751432229 CA5283733	17	E>G		No	ClinGen ExAC gnomAD
CA375238228 rs13302521	17	E>K		No	ClinGen gnomAD
CA375238248 rs1288930578	18	G>A		No	ClinGen TOPMed
CA375238263 rs1304103436	19	F>L		No	ClinGen gnomAD
CA5283734 rs761654908	20	V>M		No	ClinGen ExAC gnomAD
rs953432114 CA200614588	21	D>N		No	ClinGen TOPMed gnomAD
CA200614592 rs868038570	22	A>V		No	ClinGen Ensembl
rs13302540 CA200614598	25	R>L		No	ClinGen Ensembl
CA200614595 rs13302540	25	R>P		No	ClinGen Ensembl
COSM421932 rs1349999227 CA375238304	25	R>W	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1306404058 CA375238313	27	R>W		No	ClinGen TOPMed
rs13286266 CA200614618	28	Q>R		No	ClinGen Ensembl
CA5283755 rs750658354	29	I>S		No	ClinGen ExAC TOPMed gnomAD
CA375241063 rs1284759254	30	A>G		No	ClinGen gnomAD
CA5283756 rs372290024	34	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	35	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA200624128 rs931489672	36	I>T		No	ClinGen TOPMed gnomAD
rs148816776 CA5283757	36	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753933525 CA5283758	38	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs903000398 CA200624147	41	N>D		No	ClinGen Ensembl
CA5283759 rs754992820	41	N>S		No	ClinGen ExAC TOPMed gnomAD
CA375241194 rs1159839203	42	S>F		No	ClinGen gnomAD
CA375241200 rs1188054483	43	T>I		No	ClinGen TOPMed
rs1048515593 CA200624166	44	P>H		No	ClinGen TOPMed
CA200624162 rs999640536	44	P>T		No	ClinGen Ensembl
CA5283761 rs753195838	48	P>L		No	ClinGen ExAC gnomAD
CA375241228 rs753195838	48	P>R		No	ClinGen ExAC gnomAD
rs1564195062 CA375241239	50	V>I		No	ClinGen Ensembl
CA375241258 rs1282590997	51	Y>C		No	ClinGen TOPMed
rs1314606405 CA375241275	52	G>V		No	ClinGen gnomAD
rs1286601370 CA375241296	54	G>E		No	ClinGen gnomAD
rs200486785 CA5283764	54	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5283765 rs755822691	55	V>I		No	ClinGen ExAC TOPMed gnomAD
rs895473599 CA200624175	56	Q>R		No	ClinGen TOPMed
rs1483701485 CA375241338	57	K>R		No	ClinGen TOPMed gnomAD
rs768219076 CA200624185	58	R>P		No	ClinGen ExAC gnomAD
rs768219076 CA5283768	58	R>Q		No	ClinGen ExAC gnomAD
rs748825354 CA5283767	58	R>W		No	ClinGen ExAC gnomAD
CA5283769 rs774499750	59	P>L		No	ClinGen ExAC TOPMed gnomAD
CA200624193 rs1018538736	60	L>F		No	ClinGen Ensembl
CA5283770 rs748106600	61	D>N		No	ClinGen ExAC gnomAD
CA375241396 rs1382646096	62	D>G		No	ClinGen gnomAD
TCGA novel	64	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5283805 rs770346623	67	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	67	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs930468424 CA200618826	70	A>D		No	ClinGen TOPMed
CA375236685 rs1157074050	70	A>T		No	ClinGen TOPMed
CA5283807 rs778379084	71	L>M		No	ClinGen ExAC gnomAD
CA375236724 rs1378514272	72	V>G		No	ClinGen TOPMed
rs757777172 CA5283809	73	H>Q		No	ClinGen ExAC gnomAD
CA375236736 rs1244811452	73	H>R		No	ClinGen gnomAD
CA5283810 rs777833024	74	Q>H		No	ClinGen ExAC gnomAD
rs375559179 CA5283828	76	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5283830 rs757982354	77	V>I		No	ClinGen ExAC gnomAD
CA200620344 rs936734240	78	I>V		No	ClinGen TOPMed gnomAD
rs777125650 CA5283831	79	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781059302 CA5283834	81	E>A		No	ClinGen ExAC gnomAD
rs1243034105 CA375237291	83	K>E		No	ClinGen gnomAD
rs964827044 CA200620698	93	I>V		No	ClinGen Ensembl
rs958342847 CA200620715	94	G>S		No	ClinGen TOPMed
CA375237511 rs1467472429	97	G>S		No	ClinGen gnomAD
rs772270514 CA5283863	98	E>G		No	ClinGen ExAC gnomAD
CA375237525 rs1387928281	99	Q>E		No	ClinGen gnomAD
CA375237546 rs370976617	102	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5283864 rs370976617	102	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA200620725 rs368399810	102	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA375237549 rs1564208271	103	I>V		No	ClinGen Ensembl
rs1163408201 CA375237565	105	A>T		No	ClinGen Ensembl
CA5283865 rs747494748	110	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1470345818 CA375237637	115	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	117	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1215911888 CA375237674	119	G>E		No	ClinGen gnomAD
rs924112460 CA200621845	119	G>R		No	ClinGen TOPMed
CA375237698 rs1486964745	123	R>G		No	ClinGen gnomAD
rs1418200789 CA375237707	124	P>S		No	ClinGen Ensembl
CA5283889 rs774051133	128	T>A		No	ClinGen ExAC gnomAD
CA5283890 rs761435847	128	T>I		No	ClinGen ExAC TOPMed gnomAD
CA200621857 rs761435847	128	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1051352129 CA200621883	129	G>R		No	ClinGen TOPMed
CA5283891 rs771614602	131	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	132	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1378948001 CA375237777	134	I>V		No	ClinGen gnomAD
rs746375117 CA5283904	138	K>R		No	ClinGen ExAC TOPMed gnomAD
rs770196150 CA5283905	139	R>Q		No	ClinGen ExAC gnomAD
rs1420309396 CA375238386	139	R>W		No	ClinGen TOPMed gnomAD
rs1564210836 CA375238391	140	L>F		No	ClinGen Ensembl
CA375238427 rs1397907620	146	D>N		No	ClinGen gnomAD
CA200623224 rs1002967091	147	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5283909 COSM1674903 rs772851626	147	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1105979 rs760166472 CA5283910	149	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs770458925 CA5283911	149	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	152	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	154	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	155	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1023215304 CA200623251	155	H>R		No	ClinGen TOPMed
CA5283912 rs776479286	156	N>D		No	ClinGen ExAC gnomAD
CA5283914 rs200167629	158	I>V		No	ClinGen ESP ExAC
CA5283915 rs752562301	159	D>E		No	ClinGen ExAC TOPMed gnomAD
CA5283916 rs762778411	160	S>G		No	ClinGen ExAC gnomAD
rs1000173522 CA200623260	161	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5283917 rs764415792	162	S>N		No	ClinGen ExAC gnomAD
CA375238578 rs1564211004	168	L>V		No	ClinGen Ensembl
CA5283921 rs750936198	171	A>S		No	ClinGen ExAC gnomAD
CA375238595 rs750936198	171	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	171	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756648598 CA5283922	172	S>C		No	ClinGen ExAC gnomAD
rs780493517 CA5283923	174	V>M		No	ClinGen ExAC
TCGA novel	175	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375238671 rs1588146762	183	E>G		No	ClinGen Ensembl
rs903333957 COSM1460498 CA200624116	191	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs761470228 CA5283959	191	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1169006244 CA375238910	192	T>I		No	ClinGen TOPMed
rs1476365413 CA375238917	193	G>E		No	ClinGen TOPMed
CA5283960 rs767798012	193	G>R		No	ClinGen ExAC gnomAD
CA375238935 rs1588148259	194	V>G		No	ClinGen Ensembl
rs1187513547 CA375238957	196	M>L		No	ClinGen TOPMed
CA375239014 rs1227823653	200	Q>P		No	ClinGen gnomAD
rs760798791 CA375239025	201	D>G		No	ClinGen ExAC gnomAD
CA5283962 rs760798791	201	D>V		No	ClinGen ExAC gnomAD
TCGA novel	203	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1357665710 CA375239050	203	P>S		No	ClinGen gnomAD
CA375239457 rs1283851337	204	L>F		No	ClinGen TOPMed gnomAD
rs1447684398 CA375239487	206	T>M		No	ClinGen gnomAD
rs755538900 CA5283965	208	A>E		No	ClinGen ExAC TOPMed gnomAD
CA5283964 rs754380179	208	A>T		No	ClinGen ExAC gnomAD
rs765611828 CA5283966	209	D>E		No	ClinGen ExAC gnomAD
CA375239553 rs1349376717	211	P>A		No	ClinGen gnomAD
rs753117587 CA5283967	213	R>C		No	ClinGen ExAC TOPMed gnomAD
CA375239576 rs1564212412	213	R>H		No	ClinGen Ensembl
rs1019400368 CA200624131	218	A>S		No	ClinGen TOPMed
rs1292672208 CA375239685	221	V>I		No	ClinGen gnomAD
rs1409179454 CA375239780	225	R>G		No	ClinGen TOPMed
CA200625502 rs929781882	229	L>Q		No	ClinGen TOPMed gnomAD
CA375239813 rs929781882	229	L>R		No	ClinGen TOPMed gnomAD
rs779806628 CA5283991	232	I>T		No	ClinGen ExAC gnomAD
CA375239836 rs1330297079	233	R>*		No	ClinGen gnomAD
CA375239837 rs1328900913	233	R>Q		No	ClinGen gnomAD
rs753405586 CA5283992	234	E>K		No	ClinGen ExAC gnomAD
TCGA novel	236	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380286107 CA375239875	238	A>G		No	ClinGen gnomAD
CA5283993 rs754383251	238	A>P		No	ClinGen ExAC gnomAD
CA375239901 rs1216497647	240	F>C		No	ClinGen gnomAD
rs1347022383 CA375239892	240	F>I		No	ClinGen gnomAD
CA375239905 TCGA novel rs923661020	240	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
CA5283994 rs371045388	241	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1339975663 CA375239908	241	R>W		No	ClinGen TOPMed gnomAD
rs748009507 CA5283995	243	V>E		No	ClinGen ExAC gnomAD
CA200625527 rs956372283	243	V>I		No	ClinGen gnomAD
CA375239945 rs1427206147	244	R>C		No	ClinGen Ensembl
rs1271251654 CA375239947	244	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs535759409 CA5283997	245	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1169915421 CA375239969	246	D>N		No	ClinGen Ensembl
rs1162021306 CA375239993	247	F>C		No	ClinGen TOPMed gnomAD
CA5284000 rs776766939	247	F>I		No	ClinGen ExAC TOPMed gnomAD
rs1365107393 CA375239995	247	F>L		No	ClinGen TOPMed
rs1162021306 CA375239991	247	F>S		No	ClinGen TOPMed gnomAD
CA5284001 rs759728153	248	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1236916749 CA375240023	249	S>A		No	ClinGen gnomAD
rs776114225 CA5284003	250	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5284004 rs763339444	251	M>V		No	ClinGen ExAC gnomAD
TCGA novel	252	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs894138399 CA200625582	254	G>S		No	ClinGen TOPMed gnomAD
CA375240099 rs1294555514	255	S>N		No	ClinGen gnomAD
rs757034072 CA5284016	258	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1464822409 CA375240792	261	P>L		No	ClinGen TOPMed
CA375240801 rs1385244746	262	R>T		No	ClinGen gnomAD
rs201114029 CA5284019	264	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375240954 rs1317228167	273	G>R		No	ClinGen gnomAD
rs769287763 CA5284022	275	M>V		No	ClinGen ExAC gnomAD
rs1255064044 CA375240976	276	I>V		No	ClinGen TOPMed
rs1261482932 CA375240984	277	K>E		No	ClinGen gnomAD
CA5284023 rs549556975	277	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA375241003 rs1199089275	279	I>S		No	ClinGen gnomAD
CA5284024 rs762322895	284	G>C		No	ClinGen ExAC TOPMed gnomAD
rs762322895 CA375241041	284	G>R		No	ClinGen ExAC TOPMed gnomAD
rs762322895 CA375241043	284	G>S		No	ClinGen ExAC TOPMed gnomAD
rs575563176 CA5284025	286	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375241140 rs1434334245	291	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs773484155 CA5284050	293	D>G		No	ClinGen ExAC TOPMed gnomAD
CA375241278 rs1385187486	294	G>A		No	ClinGen gnomAD
TCGA novel	294	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1346397406 CA375241286	295	I>V		No	ClinGen gnomAD
rs764812675 CA5284052	300	A>T		No	ClinGen ExAC gnomAD
rs984888230 CA200627372	303	V>I		No	ClinGen TOPMed
CA5284055 rs763564658	304	M>I		No	ClinGen ExAC gnomAD
CA5284054 rs762518172	304	M>T		No	ClinGen ExAC gnomAD
CA5284053 rs377086123	304	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5284056 rs200047797	306	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs528138061 CA5284057	307	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA5284059 rs750187901	308	D>V		No	ClinGen ExAC gnomAD
rs755878728 CA5284060	309	R>G		No	ClinGen ExAC TOPMed gnomAD
rs754103885 CA5284063	309	R>L		No	ClinGen ExAC TOPMed gnomAD
rs754103885 CA5284062	309	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs755878728 CA5284061	309	R>W		No	ClinGen ExAC TOPMed gnomAD
CA375241454 rs1395159021	311	Q>E		No	ClinGen TOPMed
CA5284064 rs779160859	314	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1326130271 CA375241505	318	S>N		No	ClinGen TOPMed gnomAD
CA5284068 rs747392214	319	E>K		No	ClinGen ExAC gnomAD
CA5284069 rs771323314	322	L>V		No	ClinGen ExAC gnomAD
rs1588155244 CA375241538	323	T>I		No	ClinGen Ensembl
rs1347022288 CA375242287	327	R>G		No	ClinGen gnomAD
rs771527231 CA5284110	327	R>K		No	ClinGen ExAC gnomAD
rs373000812 CA200628661	328	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1438418483 CA375242294	328	D>Y		No	ClinGen gnomAD
CA5284112 rs547113458	329	G>S		No	ClinGen ExAC gnomAD
CA5284114 rs776700378	333	L>P		No	ClinGen ExAC TOPMed gnomAD
rs199503537 CA5284115	334	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs201193874 CA5284116	335	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201193874 CA5284117	335	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5284118 rs763260086	335	A>V		No	ClinGen ExAC gnomAD
rs1202012713 CA375242340	336	A>D		No	ClinGen gnomAD
COSM1105983 CA375242371 rs1334819849	341	R>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs750329577 CA200628694	341	R>H		No	ClinGen TOPMed gnomAD
rs751662823 CA5284120	342	G>S		No	ClinGen ExAC gnomAD
rs757223977 CA5284121	343	R>C		No	ClinGen ExAC TOPMed gnomAD
rs768069231 CA5284122	343	R>H		No	ClinGen ExAC TOPMed gnomAD
CA375242385 rs1269465783	344	G>S		No	ClinGen gnomAD
CA5284127 rs370351004	345	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376932493 CA5284126	345	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5284125 rs376932493	345	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758078397 CA5284128	346	W>R		No	ClinGen ExAC gnomAD
CA5284130 rs367871511	348	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5284131 rs367871511	348	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	349	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1192942231 CA375242424	350	A>V		No	ClinGen gnomAD
rs745778981 CA375242427	351	P>A		No	ClinGen ExAC gnomAD
rs745778981 CA5284133	351	P>S		No	ClinGen ExAC gnomAD
CA375242432 rs1224768467	352	G>R		No	ClinGen TOPMed
CA5284135 rs372128032	354	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA375242458 rs1382907990	356	E>*		No	ClinGen gnomAD
rs762587984 CA5284136	356	E>D		No	ClinGen ExAC TOPMed gnomAD
rs768934896 CA5284137	357	I>K		No	ClinGen ExAC gnomAD
CA200628789 rs751773806	358	T>I		No	ClinGen Ensembl
rs777858358 CA5284138	360	T>A		No	ClinGen ExAC TOPMed gnomAD
CA200628793 rs761945381	360	T>K		No	ClinGen ExAC TOPMed gnomAD
rs761945381 CA5284139	360	T>M		No	ClinGen ExAC TOPMed gnomAD
rs777858358 CA375242482	360	T>P		No	ClinGen ExAC TOPMed gnomAD
rs777858358 CA375242483	360	T>S		No	ClinGen ExAC TOPMed gnomAD
rs750974184 CA5284141	361	V>L		No	ClinGen ExAC gnomAD
rs750974184 CA375242485	361	V>M		No	ClinGen ExAC gnomAD
rs1426456486 CA375242494	362	P>L		No	ClinGen gnomAD
rs1047045177 CA200628797	362	P>S		No	ClinGen TOPMed
rs754247625 CA5284144	364	D>E		No	ClinGen ExAC gnomAD
TCGA novel	364	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355294135 CA375242506	364	D>V		No	ClinGen gnomAD
rs1588159424 CA375242511	365	K>T		No	ClinGen Ensembl
CA5284146 rs777551153	368	L>F		No	ClinGen ExAC TOPMed gnomAD
rs144677041 CA5284147	369	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372710837 CA5284148	370	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1466622581 CA375242549	371	G>D		No	ClinGen gnomAD
rs757066522 CA5284173	373	G>A		No	ClinGen ExAC TOPMed gnomAD
rs757066522 CA375242770	373	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	374	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375242784 rs1307902735	375	E>D		No	ClinGen gnomAD
CA375242782 rs1390927438	375	E>G		No	ClinGen gnomAD
CA375242794 rs1252676821	377	I>V		No	ClinGen TOPMed
rs1588165492 CA375242802	378	K>E		No	ClinGen Ensembl
rs772299152 CA5284174	381	N>I		No	ClinGen ExAC gnomAD
CA200630909 rs781173959	382	Q>R		No	ClinGen Ensembl
TCGA novel	386	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5284177 rs770887643	388	V>M		No	ClinGen ExAC gnomAD
rs1479342123 CA375242911	393	N>K		No	ClinGen gnomAD
rs1588165541 CA375242908	393	N>T		No	ClinGen Ensembl
CA5284179 rs777245502	394	P>L		No	ClinGen ExAC gnomAD
CA200630929 rs964477314	395	P>H		No	ClinGen Ensembl
CA200630928 rs886648631	395	P>S		No	ClinGen TOPMed
CA5284180 rs202143770	396	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5284181 rs765736028 CA5284182	397	N>K		No	ClinGen ExAC gnomAD
rs1428399459 CA375242936	398	S>N		No	ClinGen gnomAD
CA5284184 rs763967187 COSM1193497	399	D>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	400	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376235347 CA5284185	401	N>S		No	ClinGen ExAC TOPMed gnomAD
rs376235347 CA200630937	401	N>T		No	ClinGen ExAC TOPMed gnomAD
CA375242966 rs1403389562	403	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5284188 rs753338109 COSM1105984	403	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA375242983 rs1302888108	405	F>L		No	ClinGen gnomAD
CA375242991 rs1300149402	407	I>V		No	ClinGen TOPMed
TCGA novel	408	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375243000 rs1346495159	408	R>T		No	ClinGen gnomAD
TCGA novel	410	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA200630948 rs1030017023	410	V>F		No	ClinGen TOPMed gnomAD
rs1030017023 CA375243011	410	V>L		No	ClinGen TOPMed gnomAD
TCGA novel	413	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1307434087 CA375243037	414	I>L		No	ClinGen gnomAD
TCGA novel	415	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA200630955 rs377058050	416	V>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs377058050 CA5284192	416	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA375243057 rs1186661045	417	A>S		No	ClinGen TOPMed
rs1161898125 CA375243064	418	R>K		No	ClinGen gnomAD
rs909091823 CA200630961	421	I>M		No	ClinGen Ensembl
rs1588165692 CA375243087	421	I>T		No	ClinGen Ensembl
CA375243084 rs1387165264	421	I>V		No	ClinGen gnomAD
TCGA novel	427	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5284212 rs370919592	428	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs200998997 CA5284214	429	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1588166740 CA375243156	430	L>P		No	ClinGen Ensembl
CA5284215 rs745991961	430	L>V		No	ClinGen ExAC gnomAD
TCGA novel	431	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5284216 rs549143328	431	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375243168 rs1564226855	432	A>V		No	ClinGen Ensembl
CA375243180 rs1564226866	434	G>V		No	ClinGen Ensembl
CA5284217 rs368512612	435	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375243194 rs1379411250	437	G>R		No	ClinGen TOPMed gnomAD
CA375243202 rs1405857362	438	Q>E		No	ClinGen gnomAD
rs769232497 CA5284219	440	P>A		No	ClinGen ExAC TOPMed gnomAD
CA375243216 rs769232497	440	P>T		No	ClinGen ExAC TOPMed gnomAD
rs762168253 CA5284221	444	P>L		No	ClinGen ExAC gnomAD
rs776344598 CA5284224	446	A>D		No	ClinGen ExAC TOPMed gnomAD
rs770499375 CA5284222	446	A>P		No	ClinGen ExAC
rs776344598 CA5284223	446	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1030806926 CA200631245	448	P>S		No	ClinGen TOPMed
CA375243320 rs1427683598	454	P>S		No	ClinGen gnomAD
CA5284242 rs776200713	456	R>G		No	ClinGen ExAC TOPMed gnomAD
CA375243333 rs1173621835	456	R>K		No	ClinGen gnomAD
CA375243335 rs1173621835	456	R>M		No	ClinGen gnomAD
CA200631380 rs954668739	458	S>P		No	ClinGen Ensembl
CA5284244 rs759258767 CA5284243	459	G>R		No	ClinGen ExAC gnomAD
CA5284246 rs529162258	461	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1364989248 CA375243373	462	P>Q		No	ClinGen TOPMed
rs1158879035 CA375243377	463	N>D		No	ClinGen TOPMed
CA375243376 rs1158879035	463	N>H		No	ClinGen TOPMed
CA375243391 rs1195229597	464	M>I		No	ClinGen TOPMed
CA5284248 rs201741461	464	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761551822 CA5284249	465	A>T		No	ClinGen ExAC gnomAD
CA375243416 rs1588167410	468	V>G		No	ClinGen Ensembl
rs767321671 CA5284250	469	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750134999 CA5284251	471	N>D		No	ClinGen ExAC gnomAD
CA375243452 rs1207943638	474	S>G		No	ClinGen TOPMed
rs1354336576 CA375243465	476	P>T		No	ClinGen TOPMed
CA200631524 rs868761221	480	P>F		No	ClinGen Ensembl
CA375243514 rs1188441955	481	P>L		No	ClinGen gnomAD
CA5284277 rs758949511	481	P>T		No	ClinGen ExAC gnomAD
CA375243516 rs1564227758	482	A>P		No	ClinGen Ensembl
rs747434057 CA375243528	483	F>L		No	ClinGen ExAC gnomAD
CA5284281 rs779720242	494	A>S		No	ClinGen ExAC gnomAD
CA375243698 rs1588167865	502	V>G		No	ClinGen Ensembl
rs1319736262 CA375243690	502	V>I		No	ClinGen gnomAD
rs370747087 CA5284284	503	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5284322 rs746456608	504	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA375243975 rs1240372207	508	Q>R		No	ClinGen TOPMed
rs1301102176 CA375243981	509	P>L		No	ClinGen gnomAD
CA5284323 rs771009295	509	P>S		No	ClinGen ExAC gnomAD
CA5284325 rs745743668	513	Q>P		No	ClinGen ExAC gnomAD
CA375244017 rs1257296146	514	P>S		No	ClinGen gnomAD
rs923283927 CA200632457	516	Y>H		No	ClinGen TOPMed
CA5284326 rs769446618	517	S>G		No	ClinGen ExAC gnomAD
rs1406444076 CA375244096	524	Y>*		No	ClinGen TOPMed
CA375244094 rs1588171251	524	Y>C		No	ClinGen Ensembl
rs1203951364 CA375244102	525	K>R		No	ClinGen gnomAD
CA375244112 rs1252117408	526	K>N		No	ClinGen gnomAD
rs1483881032 CA375244115	527	Q>E		No	ClinGen gnomAD
rs909629553 CA200632464	527	Q>R		No	ClinGen Ensembl
CA5284347 rs774539023	528	S>N		No	ClinGen ExAC gnomAD
rs570039250 CA200632942 COSM3745852	530	A>T	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs773816008 CA375244154	531	A>S		No	ClinGen ExAC TOPMed gnomAD
rs773816008 CA5284350	531	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA375244157 rs1564231782	531	A>V		No	ClinGen Ensembl
rs1229391103 CA375244168	533	A>D		No	ClinGen gnomAD
CA5284352 rs147559810 COSM1197391	533	A>T	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1223498726 CA375244173	534	A>P		No	ClinGen gnomAD
rs1223498726 CA375244172	534	A>T		No	ClinGen gnomAD
rs1464430569 CA375244180	535	P>R		No	ClinGen gnomAD
rs577064826 CA5284353	535	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5284354 rs376352946	536	Q>P		No	ClinGen ESP ExAC gnomAD
CA375244191 rs1250024081	537	A>S		No	ClinGen gnomAD
CA5284356 rs751227575	540	P>L		No	ClinGen ExAC gnomAD
rs1414817859 CA375244211	540	P>S		No	ClinGen TOPMed gnomAD
CA5284357 rs756877913	541	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5284359 rs202110626	543	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1231465485 CA375244243	545	M>K		No	ClinGen TOPMed
CA375244241 rs1346418231	545	M>V		No	ClinGen gnomAD
rs374968551 CA5284360	546	A>S		No	ClinGen ESP ExAC
rs1375118881 CA375244253	546	A>V		No	ClinGen TOPMed gnomAD
CA200632986 rs865873541	548	A>E		No	ClinGen gnomAD
CA375244264 rs745634824	548	A>S		No	ClinGen gnomAD
CA200632983 rs745634824	548	A>T		No	ClinGen gnomAD
CA375244284 rs1308819667	551	Y>H		No	ClinGen TOPMed
CA200632996 rs1056918439	553	Q>K		No	ClinGen TOPMed
CA375244313 rs1234887600	555	V>F		No	ClinGen gnomAD
rs1588172918 CA375244317	555	V>G		No	ClinGen Ensembl
CA5284362 rs749091594	556	A>T		No	ClinGen ExAC gnomAD
COSM1460503 rs372245867 CA5284365	559	G>R	Variant assessed as Somatic; 0.0001856 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5284366 rs377081991	561	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs773173082 CA5284367	561	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs377081991 CA375244354	561	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs777190400 CA5284370	562	L>S		No	ClinGen ExAC gnomAD
CA375244386 rs760019163	564	Q>L		No	ClinGen ExAC gnomAD
CA5284371 rs760019163	564	Q>R		No	ClinGen ExAC gnomAD
CA375244394 rs541871053	565	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5284372 rs541871053	565	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775949639 CA5284373	565	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5284376 rs749914453	566	Q>R		No	ClinGen ExAC gnomAD
rs1174811935 CA375244418	568	H>N		No	ClinGen gnomAD
CA375244424 rs1359354812	568	H>P		No	ClinGen gnomAD
CA375244426 rs1359354812	568	H>R		No	ClinGen gnomAD
rs1305829596 CA375244443	569	S>R		No	ClinGen gnomAD
rs757507667 CA5284420	572	Q>*		No	ClinGen ExAC gnomAD
CA200633441 rs757507667	572	Q>K		No	ClinGen ExAC gnomAD

No associated diseases with Q96I24

8 regional properties for Q96I24

Type	Name	Position	InterPro Accession
domain	K Homology domain	76 - 146	IPR004087-1
domain	K Homology domain	161 - 233	IPR004087-2
domain	K Homology domain	252 - 322	IPR004087-3
domain	K Homology domain	353 - 426	IPR004087-4
domain	K Homology domain, type 1	79 - 141	IPR004088-1
domain	K Homology domain, type 1	165 - 230	IPR004088-2
domain	K Homology domain, type 1	256 - 319	IPR004088-3
domain	K Homology domain, type 1	358 - 423	IPR004088-4

Functions

		Description
EC Number
Subcellular Localization	Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
dendritic shaft	Cylindric portion of the dendrite, directly stemming from the perikaryon, and carrying the dendritic spines.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
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.
polysome	A multiribosomal structure representing a linear array of ribosomes held together by messenger RNA. They represent the active complexes in cellular protein synthesis and are able to incorporate amino acids into polypeptides both in vivo and in vitro.
ribosome	An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins.

3 GO annotations of molecular function

Name	Definition
mRNA binding	Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
RNA binding	Binding to an RNA molecule or a portion thereof.
single-stranded DNA binding	Binding to single-stranded DNA.

6 GO annotations of biological process

Name	Definition
DNA-templated transcription	The synthesis of an RNA transcript from a DNA template.
intracellular mRNA localization	Any process in which mRNA is transported to, or maintained in, a specific location within the cell.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9NZI8	IGF2BP1	Insulin-like growth factor 2 mRNA-binding protein 1	Homo sapiens (Human)	PR
O00425	IGF2BP3	Insulin-like growth factor 2 mRNA-binding protein 3	Homo sapiens (Human)	PR
Q9Y6M1	IGF2BP2	Insulin-like growth factor 2 mRNA-binding protein 2	Homo sapiens (Human)	PR
Q15365	PCBP1	Poly(rC)-binding protein 1	Homo sapiens (Human)	PR

10	20	30	40	50	60
MAELVQGQSA	PVGMKAEGFV	DALHRVRQIA	AKIDSIPHLN	NSTPLVDPSV	YGYGVQKRPL
70	80	90	100	110	120
DDGVGNQLGA	LVHQRTVITE	EFKVPDKMVG	FIIGRGGEQI	SRIQAESGCK	IQIASESSGI
130	140	150	160	170	180
PERPCVLTGT	PESIEQAKRL	LGQIVDRCRN	GPGFHNDIDS	NSTIQEILIP	ASKVGLVIGR
190	200	210	220	230	240
GGETIKQLQE	RTGVKMVMIQ	DGPLPTGADK	PLRITGDAFK	VQQAREMVLE	IIREKDQADF
250	260	270	280	290	300
RGVRGDFNSR	MGGGSIEVSV	PRFAVGIVIG	RNGEMIKKIQ	NDAGVRIQFK	PDDGISPERA
310	320	330	340	350	360
AQVMGPPDRC	QHAAHIISEL	ILTAQERDGF	GGLAAARGRG	RGRGDWSVGA	PGGVQEITYT
370	380	390	400	410	420
VPADKCGLVI	GKGGENIKSI	NQQSGAHVEL	QRNPPPNSDP	NLRRFTIRGV	PQQIEVARQL
430	440	450	460	470	480
IDEKVGGTNL	GAPGAFGQSP	FSQPPAPPHQ	NTFPPRSSGC	FPNMAAKVNG	NPHSTPVSGP
490	500	510	520	530	540
PAFLTQGWGS	TYQAWQQPTQ	QVPSQQSQPQ	SSQPNYSKAW	EDYYKKQSHA	ASAAPQASSP
550	560	570
PDYTMAWAEY	YRQQVAFYGQ	TLGQAQAHSQ	EQ