AiPD: Autoinhibited Protein Database

Q5XUX0

Gene name	FBXO31 (FBX14, FBX31, PP2386)
Protein name	F-box only protein 31
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79791
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-78 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-78 (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

3 structures for Q5XUX0

Entry ID	Method	Resolution	Chain	Position	Source
5VZT	X-ray	270 A	B/D	66-539	PDB
5VZU	X-ray	270 A	B/D	66-539	PDB
AF-Q5XUX0-F1	Predicted				AlphaFoldDB

432 variants for Q5XUX0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001336659 CA397028868 rs1235563636	15	G>E	Intellectual disability, autosomal recessive 45 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001336658 rs1905261526	213	P>H	Intellectual disability, autosomal recessive 45 [ClinVar]	Yes	ClinVar dbSNP
rs587777703 RCV000144039	283	C>missing	Intellectual disability, autosomal recessive 45 [ClinVar]	Yes	ClinVar dbSNP
rs145589459 RCV001331338 CA8218931	450	V>M	Intellectual disability, autosomal recessive 45 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA397028949 rs1393141084	2	A>S		No	ClinGen gnomAD
CA397028946 rs1175458390	2	A>V		No	ClinGen gnomAD
rs1424559850 CA397028926	5	A>V		No	ClinGen Ensembl
CA397028923 rs1379531665	6	R>C		No	ClinGen gnomAD
rs1175692349 CA397028920	6	R>L		No	ClinGen gnomAD
rs1328926320 CA397028917	7	L>F		No	ClinGen TOPMed gnomAD
CA397028918 rs1328926320	7	L>V		No	ClinGen TOPMed gnomAD
CA397028907 rs1209453961	8	C>*		No	ClinGen TOPMed gnomAD
CA397028908 rs1233491598	8	C>F		No	ClinGen TOPMed gnomAD
CA397028910 rs1233491598	8	C>Y		No	ClinGen TOPMed gnomAD
CA397028900 rs1173941796	9	G>V		No	ClinGen TOPMed
CA397028882 rs1283016618	12	P>Q		No	ClinGen TOPMed gnomAD
rs1484742869 CA397028885	12	P>S		No	ClinGen gnomAD
CA286174987 rs945401057	14	R>G		No	ClinGen TOPMed
rs1045740488 CA397028872	14	R>H		No	ClinGen TOPMed gnomAD
CA286174985 rs1045740488	14	R>L		No	ClinGen TOPMed gnomAD
CA397028862 rs1221687070	16	C>Y		No	ClinGen gnomAD
rs913359928 CA397028854	17	R>L		No	ClinGen TOPMed gnomAD
CA286174979 rs913359928	17	R>P		No	ClinGen TOPMed gnomAD
rs1275657625 CA397028856	17	R>W		No	ClinGen TOPMed
CA286174976 rs1054611123	18	R>C		No	ClinGen Ensembl
rs1298416007 CA397028842	20	Q>K		No	ClinGen TOPMed gnomAD
CA286174971 rs926804516	20	Q>P		No	ClinGen TOPMed gnomAD
rs1158221106 CA397028820	23	R>P		No	ClinGen gnomAD
CA286174967 rs974228130	23	R>W		No	ClinGen TOPMed
rs1373104498 CA397028813	24	G>A		No	ClinGen gnomAD
rs1373104498 CA397028812	24	G>V		No	ClinGen gnomAD
rs1435332808 CA397028806	25	P>L		No	ClinGen TOPMed gnomAD
CA397028800 rs1156714525	26	A>V		No	ClinGen gnomAD
CA286174961 rs908814654	30	A>G		No	ClinGen TOPMed gnomAD
rs908814654 CA397028776	30	A>V		No	ClinGen TOPMed gnomAD
CA8219340 rs774306603	36	D>E		No	ClinGen ExAC gnomAD
rs570698468 CA8219339	37	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA397028720 rs1213474594	38	D>E		No	ClinGen gnomAD
CA8219338 rs749224996	39	P>A		No	ClinGen ExAC gnomAD
CA397028715 rs1212206809	39	P>R		No	ClinGen gnomAD
rs1030400365 CA286174949	40	E>D		No	ClinGen TOPMed
TCGA novel	42	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs997258161 CA286174946	44	I>M		No	ClinGen TOPMed
CA397028683 rs1388578300	44	I>V		No	ClinGen TOPMed
CA397028676 rs1218326094	45	E>Q		No	ClinGen gnomAD
rs1330599414 CA397028667	46	A>T		No	ClinGen TOPMed
rs746081878 CA8219335	48	A>S		No	ClinGen ExAC gnomAD
rs1307187418 CA397028651	48	A>V		No	ClinGen TOPMed gnomAD
rs1353010391 CA397028650	49	G>R		No	ClinGen gnomAD
CA397028639 rs1597382605	50	V>G		No	ClinGen Ensembl
CA397028643 rs1415286617	50	V>I		No	ClinGen gnomAD
CA8219333 rs757717394	51	G>V		No	ClinGen ExAC gnomAD
rs1287065770 CA397028614	52	G>D		No	ClinGen TOPMed gnomAD
rs1240694389 CA397028577	55	C>S		No	ClinGen TOPMed
CA397028565 rs1460125452	55	C>W		No	ClinGen gnomAD
CA397028573 rs1164470732	55	C>Y		No	ClinGen gnomAD
rs1597382589 CA397028557	56	A>E		No	ClinGen Ensembl
rs1567492483 CA397028563	56	A>T		No	ClinGen Ensembl
CA397028549 rs1284897727	57	G>S		No	ClinGen gnomAD
rs1188700175 CA397028530	58	P>L		No	ClinGen gnomAD
CA397028535 rs1484820128	58	P>S		No	ClinGen TOPMed
rs759034292 CA397028509	60	P>L		No	ClinGen ExAC TOPMed gnomAD
rs759034292 CA8219330	60	P>R		No	ClinGen ExAC TOPMed gnomAD
CA397028512 rs1188806353	60	P>S		No	ClinGen gnomAD
rs765812281 CA8219328	61	P>S		No	ClinGen ExAC TOPMed gnomAD
CA397028485 rs1233310295	62	P>L		No	ClinGen TOPMed gnomAD
CA286174931 rs1000666818	62	P>S		No	ClinGen TOPMed gnomAD
rs1000666818 CA397028491	62	P>T		No	ClinGen TOPMed gnomAD
rs1293270521 CA397028472	63	P>R		No	ClinGen gnomAD
rs1383917214	63	P>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs750069462 CA8219326	63	P>S		No	ClinGen ExAC gnomAD
CA397028456 rs1597382553	64	R>P		No	ClinGen Ensembl
rs1325030260 CA397028449	65	C>G		No	ClinGen TOPMed gnomAD
CA397028448 rs1325030260	65	C>R		No	ClinGen TOPMed gnomAD
CA8219324 rs761427724	65	C>S		No	ClinGen ExAC gnomAD
rs761427724 CA397028444	65	C>Y		No	ClinGen ExAC gnomAD
rs1396902514 CA397028423	66	S>L		No	ClinGen gnomAD
rs774177847 CA8219323	69	E>D		No	ClinGen ExAC TOPMed gnomAD
rs368231326 CA286174924	71	P>S		No	ClinGen ESP gnomAD
rs1429683739 CA397028359	72	P>L		No	ClinGen gnomAD
CA397028361 rs1173151206	72	P>S		No	ClinGen gnomAD
CA397028288 rs1305944645	79	F>L		No	ClinGen TOPMed
CA286174910 rs911512245	84	G>V		No	ClinGen Ensembl
CA397028218 rs1338175137	85	T>A		No	ClinGen gnomAD
rs771329779 CA8219316	86	D>E		No	ClinGen ExAC gnomAD
rs778351568 CA8219314	88	P>T		No	ClinGen ExAC gnomAD
CA397028166 rs1333487046	89	S>R		No	ClinGen TOPMed
rs1266013286 CA397028169	89	S>T		No	ClinGen TOPMed
rs566450363 CA286174901	90	L>F		No	ClinGen 1000Genomes
CA397028163 rs1438367846	90	L>V		No	ClinGen gnomAD
CA397028146 rs1372918692	91	A>G		No	ClinGen TOPMed gnomAD
CA397028145 rs1372918692	91	A>V		No	ClinGen TOPMed gnomAD
CA397028136 rs1239604071	92	Q>R		No	ClinGen TOPMed
rs1457888028 CA397028109	93	V>A		No	ClinGen TOPMed
rs867260409 CA286174898	94	C>F		No	ClinGen Ensembl
rs779430256 CA397028082	95	T>M		No	ClinGen ExAC gnomAD
rs779430256 CA8219311	95	T>R		No	ClinGen ExAC gnomAD
rs766987724 CA8219308	98	R>Q		No	ClinGen ExAC gnomAD
rs749993328 CA8219309	98	R>W		No	ClinGen ExAC
CA397028026 rs1394951136	99	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs756956767 CA8219307	101	L>F		No	ClinGen ExAC gnomAD
rs1436913339 CA397027987	102	H>Q		No	ClinGen TOPMed gnomAD
CA8219306 rs148689580	102	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs763878921 CA8219305	103	T>I		No	ClinGen ExAC gnomAD
rs1413420907 CA397027952	107	W>C		No	ClinGen Ensembl
TCGA novel	110	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM227130 CA8219282 rs764929099	116	G>D	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8219281 rs377700727	118	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA397026244 rs1271539395	119	E>K		No	ClinGen gnomAD
rs867692259 CA286155989	120	N>K		No	ClinGen Ensembl
CA397026226 rs1235160964	121	L>S		No	ClinGen gnomAD
rs376226613 CA8219279	122	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs376226613 CA8219278	122	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA397026212 rs1270126026	123	K>N		No	ClinGen gnomAD
CA8219276 rs772382132	125	E>A		No	ClinGen ExAC gnomAD
rs774833866 CA8219274	128	G>D		No	ClinGen ExAC gnomAD
rs984302848 CA286155965	132	R>Q		No	ClinGen TOPMed gnomAD
rs1294566807 COSM3691234 CA397026160	132	R>W	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8219271 rs778618544	134	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8219270 rs770449346	135	Y>*		No	ClinGen ExAC gnomAD
rs1053890244 CA286155953 COSM197539	135	Y>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs746480158 CA8219269	136	A>V		No	ClinGen ExAC TOPMed gnomAD
CA397026132 rs1188921624	137	K>E		No	ClinGen gnomAD
CA397026130 rs1268257298	137	K>R		No	ClinGen gnomAD
CA397025185 rs1252699603	141	R>*		No	ClinGen gnomAD
rs886435643 CA286141585	141	R>L		No	ClinGen TOPMed gnomAD
rs886435643 CA397025184	141	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1051837697 CA286141582	142	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs751826177 CA8219238	143	R>T		No	ClinGen ExAC gnomAD
CA397025165 rs1242355948	144	H>R		No	ClinGen gnomAD
CA397025157 rs1408809617	145	I>T		No	ClinGen Ensembl
rs775882298 CA397025049	152	D>A		No	ClinGen ExAC TOPMed gnomAD
CA8219234 rs765571669 CA397025040	152	D>E		No	ClinGen ExAC gnomAD
rs775882298 CA8219235	152	D>G		No	ClinGen ExAC TOPMed gnomAD
CA397025026 rs1351774865	153	I>T		No	ClinGen gnomAD
CA397024910 rs1199302419	161	N>D		No	ClinGen TOPMed
CA8219230 rs8058981	161	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA286141552 rs769093772	162	V>M		No	ClinGen TOPMed gnomAD
CA397024867 rs1597365206	163	V>G		No	ClinGen Ensembl
CA8219228 rs768474633	163	V>M		No	ClinGen ExAC TOPMed gnomAD
CA397024357 rs752940051	165	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	165	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8219193 rs779067828	166	G>S		No	ClinGen ExAC
CA397024276 rs755198640	170	I>M		No	ClinGen ExAC TOPMed gnomAD
COSM1709491 rs754207207 CA8219191	173	M>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs754207207 CA397024234	173	M>V		No	ClinGen ExAC gnomAD
CA286137121 rs1003638505	174	Y>S		No	ClinGen Ensembl
rs1206598706 CA397024144	178	H>Y		No	ClinGen gnomAD
rs750898027 CA8219188	180	P>A		No	ClinGen ExAC gnomAD
CA8219187 rs763706020	180	P>H		No	ClinGen ExAC gnomAD
rs1274783207 CA397024086	181	H>Y		No	ClinGen TOPMed
rs775309853 CA8219184	183	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA286137070 rs775309853	183	D>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	184	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1342589854 CA397024008	185	P>R	Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397024004 rs769368972	186	M>L		No	ClinGen ExAC TOPMed gnomAD
CA8219183 rs769368972	186	M>V		No	ClinGen ExAC TOPMed gnomAD
rs759203274 CA397023982	187	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1302260436 CA397023945	188	F>L		No	ClinGen gnomAD
rs1390823680 CA397023941	189	K>Q		No	ClinGen gnomAD
rs1277740006 CA397023919	190	P>A		No	ClinGen gnomAD
rs1035628336 CA286137025	190	P>L		No	ClinGen TOPMed
CA397023921 rs1277740006	190	P>T		No	ClinGen gnomAD
rs777639624 CA8219178	197	M>I		No	ClinGen ExAC gnomAD
rs1479407003 CA397023848	197	M>T		No	ClinGen TOPMed
CA8219179 rs746924315	197	M>V		No	ClinGen ExAC gnomAD
rs199657647 CA8219176	200	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1417997071 CA397023825	200	K>R		No	ClinGen gnomAD
CA397023818 rs778944819	201	A>D		No	ClinGen ExAC gnomAD
CA8219175 rs778944819	201	A>G		No	ClinGen ExAC gnomAD
CA8219174 rs755216194	202	A>V		No	ClinGen ExAC gnomAD
rs138502574 CA286136948	203	T>I		No	ClinGen ESP
CA286136940 rs182224971	204	V>A		No	ClinGen 1000Genomes
CA397023783 rs1279547843	207	M>L		No	ClinGen gnomAD
COSM974594 rs756439061 CA8219171	209	G>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA286136924 rs80318958	210	H>Q		No	ClinGen Ensembl
CA8219169 rs768094387	210	H>R		No	ClinGen ExAC gnomAD
rs374995854 CA8219170	210	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	211	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397023742 rs1410552676	213	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1344241150 CA397023728	215	H>D		No	ClinGen TOPMed
CA286136846 rs201223856	215	H>P		No	ClinGen Ensembl
rs1289116460 CA397023723	216	G>S		No	ClinGen TOPMed
rs1398086214 CA397023717	217	H>D		No	ClinGen gnomAD
rs150450652 CA8219164	219	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA8219146 rs753464531	221	V>A		No	ClinGen ExAC gnomAD
CA8219145 rs201921022	223	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397023342 rs1357611457	223	K>T		No	ClinGen gnomAD
CA397023296 rs1299337672	229	K>N		No	ClinGen gnomAD
rs1435420668 CA397023291	230	C>F		No	ClinGen gnomAD
rs1393052179 CA397023286	231	N>H		No	ClinGen gnomAD
CA8219143 rs773051532	231	N>S		No	ClinGen ExAC gnomAD
rs1406627069 CA397023266	233	T>M		No	ClinGen gnomAD
rs1189433171 CA397023216	240	G>D		No	ClinGen gnomAD
rs1245223336 CA397023205	242	R>K		No	ClinGen gnomAD
rs1357271615 CA397021501	248	T>M		No	ClinGen TOPMed gnomAD
CA8219112 rs772692220	251	R>G		No	ClinGen ExAC gnomAD
CA397021449 rs1597358575	251	R>K		No	ClinGen Ensembl
TCGA novel	251	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748596217 CA8219111	252	E>G		No	ClinGen ExAC gnomAD
CA397021436 rs1284169303	252	E>Q		No	ClinGen TOPMed
rs1597358552 CA397021392	253	E>G		No	ClinGen Ensembl
CA8219109 rs570754267	255	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs780787584 CA8219107	256	R>C		No	ClinGen ExAC TOPMed gnomAD
CA397021309 rs780787584	256	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1219241531 CA397021306	256	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8219106 rs756876706	257	T>M		No	ClinGen ExAC gnomAD
CA8219104 rs373407826	261	I>V		No	ClinGen ESP ExAC TOPMed
rs375884594 CA8219103	263	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	266	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1225968931 CA397021071	266	M>L		No	ClinGen gnomAD
TCGA novel	266	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397021007 rs1330683196	269	L>H		No	ClinGen gnomAD
CA397021001 rs1288893775	270	I>V		No	ClinGen gnomAD
rs901937905 CA286128350	273	K>Q		No	ClinGen TOPMed
CA8219100 rs759640375	274	F>L		No	ClinGen ExAC gnomAD
rs868367338 CA286128347	276	Y>H		No	ClinGen Ensembl
CA397020925 rs1448505342	278	S>C		No	ClinGen gnomAD
CA397020751 RCV000596185 rs1555547576	283	C>Y		No	ClinGen ClinVar Ensembl dbSNP
CA397020727 rs1170815508	285	T>I		No	ClinGen gnomAD
rs1597358086 CA397020734	285	T>P		No	ClinGen Ensembl
CA397020717 rs1597358083	286	Y>S		No	ClinGen Ensembl
rs1430816336 CA397020705	287	R>C		No	ClinGen gnomAD
CA397020702 rs1373218571	287	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1232052486 CA397020693	288	R>P		No	ClinGen gnomAD
rs1597358074 CA397020671	290	Y>C		No	ClinGen Ensembl
rs1197811390 CA397020659	291	L>P		No	ClinGen gnomAD
CA8219066 rs755030834	292	P>L	Variant assessed as Somatic; 4.864e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA286127450 rs1009259843	293	P>L		No	ClinGen Ensembl
CA397020626 rs750686501	294	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1482665825 CA397020631	294	S>R		No	ClinGen gnomAD
CA397020621 rs1567613548	294	S>R		No	ClinGen Ensembl
rs750686501 CA8219062	294	S>T		No	ClinGen ExAC TOPMed gnomAD
rs371643355 COSM349266 CA8219061	295	R>C	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1342616722 CA397020611	295	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs762004786 CA8219060	296	P>A		No	ClinGen ExAC gnomAD
CA8219058 rs189971356	297	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8219056 COSM974588 rs775921137	298	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1381815869 CA397020540	300	I>M		No	ClinGen TOPMed
TCGA novel	300	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA286127380 rs866072662	303	G>C		No	ClinGen Ensembl
rs1158474873 CA397020380	308	T>S		No	ClinGen TOPMed
CA397020364 rs1310391231	309	Y>C		No	ClinGen gnomAD
rs746462345 CA8219054	310	G>D		No	ClinGen ExAC gnomAD
rs1378821511 CA397020298	312	H>R		No	ClinGen TOPMed
CA397020287 rs1407640986	313	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1379043192 CA397020223	315	E>D		No	ClinGen gnomAD
rs747797113 CA8219051	318	M>I		No	ClinGen ExAC gnomAD
rs1334277002 CA397020173	318	M>L		No	ClinGen Ensembl
rs778854518 CA8219050	319	L>F		No	ClinGen ExAC
CA397020140 rs1249450116	320	S>R		No	ClinGen gnomAD
TCGA novel	322	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1290215609 CA397020060	323	G>C		No	ClinGen gnomAD
rs374638223 CA8219047	324	R>Q		No	ClinGen ESP ExAC gnomAD
rs534059001 CA8219048	324	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8219046 COSM3402533 rs202184616	325	R>C	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs200233151 CA8219045	325	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8219044 rs781322189	327	R>K		No	ClinGen ExAC gnomAD
CA397019958 rs1327239690	329	T>I		No	ClinGen gnomAD
rs371036788	332	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8219041 rs764457989	332	T>M		No	ClinGen ExAC gnomAD
CA397019886 rs1239652966	332	T>S		No	ClinGen TOPMed
rs1597357455 CA397018826	334	D>A		No	ClinGen Ensembl
rs1219414717 CA397018811	335	P>S		No	ClinGen TOPMed
CA286126088 rs151315129	336	N>S		No	ClinGen ESP TOPMed
CA397018795 rs151315129	336	N>T		No	ClinGen ESP TOPMed
CA397018788 rs1597357440	337	I>T		No	ClinGen Ensembl
rs1212213897 CA397018755	342	Q>P		No	ClinGen gnomAD
CA8219013 rs773964446	344	V>M		No	ClinGen ExAC gnomAD
rs768468557 CA8219012	346	I>V		No	ClinGen ExAC gnomAD
rs775220527 CA8219010	347	D>N		No	ClinGen ExAC gnomAD
rs745810495 CA8219008	350	H>Y		No	ClinGen ExAC gnomAD
CA8219007 rs781136689	351	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772688100 COSM197535 CA286126052	351	R>W	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs867698059 CA286126047	353	Q>*		No	ClinGen gnomAD
CA397018689 rs867698059	353	Q>E		No	ClinGen gnomAD
rs1597357400 CA397018668	356	D>A		No	ClinGen Ensembl
rs777809475 CA8219004	356	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779156693 CA8219001	358	E>K		No	ClinGen ExAC TOPMed gnomAD
CA397018629 rs1052769414	359	N>K		No	ClinGen TOPMed gnomAD
CA397018637 rs1245109811	359	N>Y		No	ClinGen gnomAD
rs146458278 CA8219000	361	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs187880966 COSM244472 CA8218998	361	R>H	Variant assessed as Somatic; 0.0 impact. endometrium prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs187880966 CA8218999	361	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1242685043 CA397018600	362	N>H		No	ClinGen TOPMed
rs756663247 CA8218997	362	N>S		No	ClinGen ExAC gnomAD
TCGA novel	362	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397018596 rs1242685043	362	N>Y		No	ClinGen TOPMed
CA286126017 rs201985742	363	F>L		No	ClinGen TOPMed gnomAD
CA8218996 rs567334491	364	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1343638238 CA397018549	365	E>G		No	ClinGen gnomAD
rs763695860 CA8218995	366	L>F		No	ClinGen ExAC TOPMed gnomAD
rs763695860 CA397018538	366	L>V		No	ClinGen ExAC TOPMed gnomAD
CA286125996 rs948498432	367	S>Y		No	ClinGen TOPMed gnomAD
CA397018510 rs1251298416	368	R>H		No	ClinGen TOPMed
CA397018508 rs1251298416	368	R>L		No	ClinGen TOPMed
rs762521039 CA8218994	369	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8218991 rs759336487	370	V>I		No	ClinGen ExAC TOPMed gnomAD
rs776380834 CA8218990	373	V>M		No	ClinGen ExAC gnomAD
CA8218989 COSM704491 rs369461567	374	R>C	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
COSM1380301 CA397018432 rs1174331035	374	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA397018425 rs1480807095	375	E>K		No	ClinGen TOPMed gnomAD
rs971356094 CA286125942	377	V>M		No	ClinGen TOPMed gnomAD
rs372619408 CA8218988	378	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8218987 rs773284363	378	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8218985 rs748338613	380	E>Q		No	ClinGen ExAC gnomAD
CA397018330 rs1209899263	381	Q>K		No	ClinGen gnomAD
rs1276087262 CA397018285	383	E>A		No	ClinGen gnomAD
CA397018267 rs1170863861	384	G>D		No	ClinGen TOPMed gnomAD
rs368876482 CA8218982	385	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8218980 rs756755313	387	E>K		No	ClinGen ExAC gnomAD
rs763713838 CA8218978	389	G>C		No	ClinGen ExAC
CA397018175 rs1178769101	391	G>S		No	ClinGen TOPMed
CA8218976 rs752324138	391	G>V		No	ClinGen ExAC TOPMed gnomAD
rs764983253 CA8218975 COSM144424	392	R>C	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8218973 rs569627106	392	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs569627106 CA8218974	392	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA286125785 rs966028467	393	G>R		No	ClinGen TOPMed
rs34412175 CA8218970	394	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs34412175 CA8218969 RCV000434786	394	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8218971 rs202150557	394	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397018112 rs1181584872	396	G>V		No	ClinGen gnomAD
CA397018098 rs774271082	397	P>L		No	ClinGen ExAC TOPMed gnomAD
rs774271082 CA8218967	397	P>R		No	ClinGen ExAC TOPMed gnomAD
CA8218965 rs749513403	398	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs768975944 CA8218966	398	R>W		No	ClinGen ExAC TOPMed gnomAD
CA397018058 rs1206305686	400	S>F		No	ClinGen gnomAD
CA397018042 rs1318592442	401	Q>H		No	ClinGen gnomAD
TCGA novel	402	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs549627604 CA8218962	403	S>N		No	ClinGen ExAC gnomAD
CA8218961 rs781752001	404	P>S		No	ClinGen ExAC gnomAD
CA8218960 rs757675283	405	A>G		No	ClinGen ExAC gnomAD
CA397017962 rs1295685103	406	Q>H		No	ClinGen TOPMed
CA8218959 rs546757815	407	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA397017959 rs1338009009	407	P>T		No	ClinGen gnomAD
CA397017947 rs1364771754	408	R>G		No	ClinGen gnomAD
CA397017923 rs368532031	411	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs368532031 CA8218958	411	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1346243127 CA397017917	412	P>H		No	ClinGen TOPMed gnomAD
rs1346243127 CA397017918	412	P>L		No	ClinGen TOPMed gnomAD
rs753431072 CA8218956	414	K>Q		No	ClinGen ExAC gnomAD
CA8218955 rs766183753	415	G>D		No	ClinGen ExAC gnomAD
TCGA novel	416	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760420701 CA8218954	418	G>E		No	ClinGen ExAC gnomAD
rs1053293314 CA286125657	418	G>R		No	ClinGen TOPMed
CA397017872 rs1259561068	419	T>I		No	ClinGen TOPMed
rs1247044408 CA397017866	420	P>L		No	ClinGen gnomAD
CA397017860 rs1485945649	421	G>A		No	ClinGen TOPMed
rs750186501 CA8218953	424	G>V		No	ClinGen ExAC TOPMed gnomAD
CA8218952 rs767536444	425	G>C		No	ClinGen ExAC TOPMed gnomAD
CA397017838 rs767536444	425	G>S		No	ClinGen ExAC TOPMed gnomAD
rs768549020 CA8218949	426	E>D		No	ClinGen ExAC gnomAD
CA8218950 rs561351899	426	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397017824 rs1331222426	427	P>H		No	ClinGen TOPMed gnomAD
rs763286218 CA8218948	429	D>N		No	ClinGen ExAC gnomAD
CA397017780 rs1364658185	431	V>I		No	ClinGen gnomAD
CA397017778 rs1364658185	431	V>L		No	ClinGen gnomAD
rs746276587 CA8218946	433	A>E		No	ClinGen ExAC TOPMed gnomAD
rs746276587 CA8218945	433	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	434	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs530948759 CA8218942	435	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs979970325 CA286125560	437	P>H		No	ClinGen Ensembl
rs927010377 CA286125566	437	P>T		No	ClinGen Ensembl
rs778498261 CA8218941	438	A>V		No	ClinGen ExAC TOPMed gnomAD
CA397017625 rs1597357157	442	Q>R		No	ClinGen Ensembl
rs1164540929 CA397017616	443	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	445	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	446	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200331468 CA8218937	447	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8218935 rs767209794	449	P>A		No	ClinGen ExAC gnomAD
CA8218932 rs145589459	450	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775683876 CA8218930	451	G>A		No	ClinGen ExAC gnomAD
rs759819249 CA397017496	452	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8218928 rs759819249	452	V>M		No	ClinGen ExAC TOPMed gnomAD
CA397017410 rs1597357125	457	E>D		No	ClinGen Ensembl
CA286125433 rs373616708	457	E>K		No	ClinGen ESP TOPMed gnomAD
CA397017395 rs1308123880	458	D>V		No	ClinGen gnomAD
rs771135021 CA8218926	461	R>Q		No	ClinGen ExAC gnomAD
rs747572916 CA8218925	462	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1347863752 CA397017314	463	C>Y		No	ClinGen gnomAD
CA397017248 rs1409583207	465	M>I		No	ClinGen gnomAD
rs1263020198 CA397016165	469	G>C		No	ClinGen gnomAD
rs1340308398 CA397016152	471	G>D		No	ClinGen gnomAD
CA397016148 rs1311542826	472	L>V		No	ClinGen TOPMed gnomAD
CA397016131 rs1384589437	474	A>V		No	ClinGen gnomAD
CA397016126 rs1382685792	475	G>A		No	ClinGen gnomAD
CA397016130 rs1456264695	475	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397016097 rs1454098610	479	T>I		No	ClinGen gnomAD
CA397016093 rs1181557853	480	S>N		No	ClinGen gnomAD
rs1413972280 CA397016078	482	E>G		No	ClinGen gnomAD
rs758476442 CA8218892	483	R>C		No	ClinGen ExAC TOPMed gnomAD
rs765422663 CA8218890	483	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8218891 rs765422663	483	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1445421225 CA397016066	484	T>I		No	ClinGen gnomAD
CA397016062 rs1206292266	485	P>H		No	ClinGen gnomAD
rs1351937561 CA397016054	486	G>A		No	ClinGen TOPMed
CA397016048 rs1597355842	487	V>G		No	ClinGen Ensembl
TCGA novel	487	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766558763 CA8218887	489	I>L		No	ClinGen ExAC gnomAD
rs1597355817 CA397015893	494	D>A		No	ClinGen Ensembl
CA397015905 rs1490218973	494	D>N		No	ClinGen TOPMed
CA8218882 rs774788388	495	R>C		No	ClinGen ExAC gnomAD
CA8218881 rs769328750	495	R>H		No	ClinGen ExAC gnomAD
rs1473038404 CA397015835	497	G>R		No	ClinGen TOPMed
rs562737163 CA8218878	499	V>I		No	ClinGen ExAC TOPMed gnomAD
rs746669697 CA8218877	500	W>*		No	ClinGen ExAC gnomAD
CA397015691 rs1243958041	503	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397015635 rs1194036228	506	F>L		No	ClinGen TOPMed gnomAD
rs780809575 CA286123115	506	F>L		No	ClinGen Ensembl
CA397015471 rs1166864372	515	T>N		No	ClinGen TOPMed
rs1597355786 CA397015480	515	T>P		No	ClinGen Ensembl
rs1166864372 CA397015473	515	T>S		No	ClinGen TOPMed
CA8218873 rs562622781	517	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1423518686 CA397015442	517	R>W		No	ClinGen TOPMed
rs753922291 CA8218872	518	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1213461822 CA397015385	520	D>G		No	ClinGen gnomAD
CA8218870 rs780173944	521	A>V		No	ClinGen ExAC gnomAD
CA8218867 rs767887503	524	P>L		No	ClinGen ExAC TOPMed gnomAD
CA397015341 rs1301288589	524	P>S		No	ClinGen gnomAD
rs762128060 CA8218866	525	Q>E		No	ClinGen ExAC gnomAD
CA8218864 rs764638057	525	Q>H		No	ClinGen ExAC gnomAD
rs140680975 CA8218865	525	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1359330120 CA397015333	526	A>T		No	ClinGen TOPMed
CA397015319 rs1477743798	528	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1597355712 CA397015307	529	E>G		No	ClinGen Ensembl
rs1427813735 CA397015299	530	M>T		No	ClinGen TOPMed gnomAD
rs941214511 CA286123041	532	K>N		No	ClinGen TOPMed
rs1480948669 CA397015276	533	N>I		No	ClinGen gnomAD
CA397015259 rs1251490884	535	Q>H		No	ClinGen gnomAD
rs547491489 CA8218861	536	S>F		No	ClinGen ExAC gnomAD
CA8218860 rs760260728	538	T>N		No	ClinGen ExAC gnomAD
rs1597355692 CA397015247	538	T>P		No	ClinGen Ensembl

1 associated diseases with Q5XUX0

[MIM: 615979]: Intellectual developmental disorder, autosomal recessive 45 (MRT45)

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT45 manifestations include mild to moderate intellectual disability and dysmorphic features, including coarse facies, broad nasal bridge, fleshy nares, and thick, prominent lips. {ECO:0000269|PubMed:24623383}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT45 manifestations include mild to moderate intellectual disability and dysmorphic features, including coarse facies, broad nasal bridge, fleshy nares, and thick, prominent lips. {ECO:0000269|PubMed:24623383}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q5XUX0

Type	Name	Position	InterPro Accession
domain	F-box domain	64 - 112	IPR001810

Functions

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

4 GO annotations of cellular component

Name	Definition
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
SCF ubiquitin ligase complex	A ubiquitin ligase complex in which a cullin from the Cul1 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by a Skp1 adaptor and an F-box protein. SCF complexes are involved in targeting proteins for degradation by the proteasome. The best characterized complexes are those from yeast and mammals (with core subunits named Cdc53/Cul1, Rbx1/Hrt1/Roc1).

1 GO annotations of molecular function

Name	Definition
cyclin binding	Binding to cyclins, proteins whose levels in a cell varies markedly during the cell cycle, rising steadily until mitosis, then falling abruptly to zero. As cyclins reach a threshold level, they are thought to drive cells into G2 phase and thus to mitosis.

7 GO annotations of biological process

Name	Definition
anaphase-promoting complex-dependent catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, with ubiquitin-protein ligation catalyzed by the anaphase-promoting complex, and mediated by the proteasome.
cellular response to DNA damage stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
mitotic G1 DNA damage checkpoint signaling	A signal transduction process that contributes to a mitotic cell cycle G1/S transition DNA damage checkpoint.
positive regulation of dendrite morphogenesis	Any process that activates or increases the frequency, rate or extent of dendrite morphogenesis.
positive regulation of neuron migration	Any process that activates or increases the frequency, rate or extent of neuron migration.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, with ubiquitin-protein ligation catalyzed by an SCF (Skp1/Cul1/F-box protein) complex, and mediated by the proteasome.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8N4B4	FBXO39	F-box only protein 39	Homo sapiens (Human)	PR
Q3TQF0	Fbxo31	F-box only protein 31	Mus musculus (Mouse)	PR
B2RYN2	Fbxo31	F-box only protein 31	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAVCARLCGV	GPSRGCRRRQ	QRRGPAETAA	ADSEPDTDPE	EERIEASAGV	GGGLCAGPSP
70	80	90	100	110	120
PPPRCSLLEL	PPELLVEIFA	SLPGTDLPSL	AQVCTKFRRI	LHTDTIWRRR	CREEYGVCEN
130	140	150	160	170	180
LRKLEITGVS	CRDVYAKLLH	RYRHILGLWQ	PDIGPYGGLL	NVVVDGLFII	GWMYLPPHDP
190	200	210	220	230	240
HVDDPMRFKP	LFRIHLMERK	AATVECMYGH	KGPHHGHIQI	VKKDEFSTKC	NQTDHHRMSG
250	260	270	280	290	300
GRQEEFRTWL	REEWGRTLED	IFHEHMQELI	LMKFIYTSQY	DNCLTYRRIY	LPPSRPDDLI
310	320	330	340	350	360
KPGLFKGTYG	SHGLEIVMLS	FHGRRARGTK	ITGDPNIPAG	QQTVEIDLRH	RIQLPDLENQ
370	380	390	400	410	420
RNFNELSRIV	LEVRERVRQE	QQEGGHEAGE	GRGRQGPRES	QPSPAQPRAE	APSKGPDGTP
430	440	450	460	470	480
GEDGGEPGDA	VAAAEQPAQC	GQGQPFVLPV	GVSSRNEDYP	RTCRMCFYGT	GLIAGHGFTS
490	500	510	520	530
PERTPGVFIL	FDEDRFGFVW	LELKSFSLYS	RVQATFRNAD	APSPQAFDEM	LKNIQSLTS