AiPD: Autoinhibited Protein Database

Q8NI29

Gene name	FBXO27 (FBG5, FBX27)
Protein name	F-box only protein 27
Names	F-box/G-domain protein 5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:126433
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-136 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-136 (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 Q8NI29

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8NI29-F1	Predicted				AlphaFoldDB

301 variants for Q8NI29

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA9424192 rs748940205	2	G>R		No	ClinGen ExAC TOPMed gnomAD
rs945398955 CA308184252	3	A>G		No	ClinGen TOPMed
CA9424190 rs755913113	4	S>L		No	ClinGen ExAC gnomAD
CA405739963 rs1361536016	7	R>T		No	ClinGen TOPMed
CA308184234 rs953290876	8	G>D		No	ClinGen TOPMed
CA405739917 rs1465325096	11	A>T		No	ClinGen gnomAD
rs1028876470 CA405739912	12	R>G		No	ClinGen TOPMed gnomAD
rs767374933 CA9424188	12	R>P		No	ClinGen ExAC gnomAD
rs767374933 CA405739910	12	R>Q		No	ClinGen ExAC gnomAD
rs1028876470 CA308184229	12	R>W		No	ClinGen TOPMed gnomAD
CA308184219 rs1049319969	13	V>A		No	ClinGen Ensembl
CA405739882 rs1474873203	14	P>L		No	ClinGen gnomAD
rs1167992316 CA405739891	14	P>T		No	ClinGen gnomAD
rs1191448651 CA405739872	15	A>E		No	ClinGen gnomAD
rs1371041324 CA405739878	15	A>T		No	ClinGen TOPMed gnomAD
rs1225930428 CA405739856	16	P>L		No	ClinGen TOPMed
rs1246333117 CA405739863	16	P>S		No	ClinGen gnomAD
rs200735613 CA9424185	17	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1465780933 CA405739854	17	E>K		No	ClinGen gnomAD
rs1467266408 CA405739798	20	P>L		No	ClinGen TOPMed
rs974716301 CA308184210	20	P>S		No	ClinGen TOPMed
CA308184208 rs962963221	21	E>K		No	ClinGen TOPMed gnomAD
CA9424183 rs775668068	22	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9424182 rs568874703	26	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759836493 CA9424181	27	S>G		No	ClinGen ExAC gnomAD
rs999667583 CA308184204	27	S>N		No	ClinGen gnomAD
rs1345856806 CA405739649	30	P>T		No	ClinGen gnomAD
CA405739639 rs776796424	31	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1021964250 CA308184203	31	P>R		No	ClinGen gnomAD
CA9424180 rs776796424	31	P>T		No	ClinGen ExAC TOPMed gnomAD
CA308184199 rs1011952943	32	E>D		No	ClinGen Ensembl
CA405739619 rs1372402878	33	L>V		No	ClinGen gnomAD
CA405739610 rs1328931311	34	L>F		No	ClinGen gnomAD
CA308184187 rs866241766	35	L>M		No	ClinGen Ensembl
CA9424179 rs771343796	35	L>P		No	ClinGen ExAC gnomAD
CA405739599 rs747509291	36	V>L		No	ClinGen ExAC gnomAD
rs747509291 CA9424178	36	V>M		No	ClinGen ExAC gnomAD
CA308184176 rs950368719	37	V>M		No	ClinGen TOPMed
rs1459507209 CA405739580	38	L>P		No	ClinGen TOPMed
rs773919297 CA9424177	39	S>G		No	ClinGen ExAC gnomAD
rs1328159250 CA405739354	39	S>R		No	ClinGen gnomAD
CA405739342 rs1444868783	40	H>Q		No	ClinGen TOPMed
CA405739344 rs1332054883	40	H>R		No	ClinGen TOPMed gnomAD
CA308184166 rs867416088	41	V>A		No	ClinGen Ensembl
CA405739315 rs1479737378	43	P>Q		No	ClinGen gnomAD
rs1201047888 CA405739308	44	R>C		No	ClinGen Ensembl
rs1600229918 CA405739293	45	T>M		No	ClinGen Ensembl
rs557937230 CA9424175	47	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs557937230 CA9424174	47	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1324541866 CA405739275	48	G>R		No	ClinGen gnomAD
CA405739261 rs1221520499	49	R>P		No	ClinGen gnomAD
CA308184156 rs900315974	49	R>S		No	ClinGen TOPMed gnomAD
rs780792637 CA405739196	55	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9424171 rs780792637	55	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1258992497 CA405739178	57	W>*		No	ClinGen TOPMed
rs751469287 CA9424169	57	W>C		No	ClinGen ExAC gnomAD
CA405739168 rs1335628265	58	R>Q		No	ClinGen TOPMed gnomAD
CA9424168 rs764069272	59	A>T		No	ClinGen ExAC TOPMed gnomAD
CA405739156 rs1404979921	60	L>V		No	ClinGen gnomAD
rs1176137350 CA405739149	61	V>M		No	ClinGen gnomAD
TCGA novel	62	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752735983 CA9424166	63	G>D		No	ClinGen ExAC gnomAD
CA308184126 rs201772247	63	G>S		No	ClinGen Ensembl
TCGA novel	65	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	65	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405739095 rs1178229448	66	L>P		No	ClinGen gnomAD
rs1600229872 CA405739086	67	W>L		No	ClinGen Ensembl
rs759623095 CA9424164	69	L>M		No	ClinGen ExAC
CA405739050 rs776973730	71	L>V		No	ClinGen ExAC gnomAD
CA9424162 rs766644679	72	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1242815388 CA405739043	72	A>T		No	ClinGen gnomAD
rs766644679 CA308184113	72	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1284710177 CA405739009	75	H>N		No	ClinGen TOPMed gnomAD
CA405738971 rs1388521897	78	T>I		No	ClinGen TOPMed gnomAD
CA9424158 rs772655162	79	G>A		No	ClinGen ExAC gnomAD
CA405738963 rs772655162	79	G>D		No	ClinGen ExAC gnomAD
CA405738966 rs1348541993	79	G>S		No	ClinGen gnomAD
rs762439507 CA9424157	80	R>L		No	ClinGen ExAC gnomAD
CA405738961 rs1452798456	80	R>S		No	ClinGen TOPMed gnomAD
rs1466968563 CA405738952	81	A>P		No	ClinGen TOPMed
rs1466968563 CA405738953	81	A>T		No	ClinGen TOPMed
CA9424155 rs769359931	81	A>V		No	ClinGen ExAC TOPMed gnomAD
CA308184095 rs1037226082	83	L>P		No	ClinGen Ensembl
CA308184089 rs996408877	84	H>P		No	ClinGen Ensembl
rs201987206 CA405738928	84	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1160289289 CA405738925	85	L>F		No	ClinGen gnomAD
rs780938353 CA405738920	86	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9424152 rs780938353	86	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1406496126 CA405738914	87	R>H		No	ClinGen gnomAD
rs770611381 CA9424151	87	R>S		No	ClinGen ExAC
rs777578401 CA9424149	88	S>R		No	ClinGen ExAC gnomAD
CA9424150 rs372776744	88	S>R		No	ClinGen ESP ExAC gnomAD
CA308184074 rs910004508	90	Q>*		No	ClinGen Ensembl
CA405738889 rs1279060763	91	S>P		No	ClinGen TOPMed
rs199702227 CA9424148	92	P>A		No	ClinGen ExAC TOPMed gnomAD
rs752647836 CA9424147	92	P>L		No	ClinGen ExAC gnomAD
rs778849319 CA9424146	94	R>C		No	ClinGen ExAC TOPMed gnomAD
rs755156097 CA9424145	94	R>H		No	ClinGen ExAC TOPMed gnomAD
CA405738854 rs1445190869	97	R>K		No	ClinGen TOPMed gnomAD
CA405738842 rs1293916015	99	C>R		No	ClinGen gnomAD
rs140307492 CA405738834	100	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140307492 CA9424144	100	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs557177068 CA9424143	101	L>Q		No	ClinGen 1000Genomes ExAC
CA405738826 rs1476153033	102	G>S		No	ClinGen TOPMed
CA405738821 rs1358042925	102	G>V		No	ClinGen gnomAD
CA405738818 rs1481897417	103	R>C		No	ClinGen gnomAD
CA405738807 rs1312291712	104	F>L		No	ClinGen gnomAD
CA9424142 rs760998404	105	C>R		No	ClinGen ExAC gnomAD
CA405738804 rs1600229751	105	C>Y		No	ClinGen Ensembl
CA308184057 rs976416138	106	A>G		No	ClinGen Ensembl
CA405738798 rs1289802789	106	A>T		No	ClinGen gnomAD
CA405738792 rs1430523967	107	R>C		No	ClinGen gnomAD
rs1419194841 CA405738775	110	I>F		No	ClinGen TOPMed
rs762351705 CA9424139	110	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1455010584 CA405738770	110	I>S		No	ClinGen TOPMed
rs774980896 CA9424138	111	G>E		No	ClinGen ExAC gnomAD
CA9424137 rs374354881	112	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA308184042 rs374354881	112	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1266929552 CA405738763	112	R>H		No	ClinGen Ensembl
CA405738748 rs1430512278	114	L>P		No	ClinGen gnomAD
CA9424135 rs776028592	115	I>T		No	ClinGen ExAC gnomAD
rs1318982501 CA405738738	116	R>C		No	ClinGen TOPMed
rs923749815 CA308184033	117	N>D		No	ClinGen Ensembl
CA405738728 rs1347066714	117	N>K		No	ClinGen TOPMed
rs977988168 CA308184030	118	P>A		No	ClinGen Ensembl
CA405738721 rs1474282576	119	C>R		No	ClinGen TOPMed gnomAD
COSM566466 rs377322565 CA308184026	120	G>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
CA9424133 rs746672014	121	Q>*		No	ClinGen ExAC gnomAD
CA9424131 rs771915331	122	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1474027158 CA405738679	123	G>D		No	ClinGen TOPMed
rs749184816 CA9424108	124	L>P		No	ClinGen ExAC TOPMed gnomAD
rs780227318 CA9424107	125	R>Q		No	ClinGen ExAC gnomAD
CA9424106 rs756321805	126	K>N		No	ClinGen ExAC gnomAD
rs746083782 CA9424105	127	W>*		No	ClinGen ExAC gnomAD
rs1028475471 CA308183770	128	M>V		No	ClinGen Ensembl
rs201412395 CA9424104	129	V>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	130	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751910218 CA9424102	130	Q>E		No	ClinGen ExAC gnomAD
CA405738621 rs1297016941	132	G>D		No	ClinGen TOPMed
rs1369997227 CA405738614	133	G>E		No	ClinGen TOPMed
CA9424099 rs753198889	134	D>G		No	ClinGen ExAC gnomAD
CA405738612 rs1241716944	134	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA405738602 rs765866290	135	G>D		No	ClinGen ExAC gnomAD
rs765866290 CA9424098	135	G>V		No	ClinGen ExAC gnomAD
rs901294561 CA308183742	136	W>*		No	ClinGen Ensembl
CA9424097 rs760214234	137	V>G		No	ClinGen ExAC gnomAD
CA9424095 rs767112070	138	V>G		No	ClinGen ExAC gnomAD
CA405738587 rs772833753	138	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9424096 rs772833753	138	V>M		No	ClinGen ExAC TOPMed gnomAD
rs752994471 CA9424094	138	V>S*		No	ClinGen ExAC
rs71356832 CA308183734	139	E>K		No	ClinGen Ensembl
CA405738574 rs1290483675	140	E>K		No	ClinGen TOPMed gnomAD
CA405738547 rs1363206148	144	T>A		No	ClinGen TOPMed gnomAD
rs373360130 CA9424089	146	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1250631666 CA405738527	147	G>E		No	ClinGen TOPMed gnomAD
CA405738519 rs1182541239	148	A>V		No	ClinGen gnomAD
rs1041434110 CA308183719	149	P>A		No	ClinGen TOPMed
CA308183717 rs934686950	149	P>L		No	ClinGen Ensembl
CA9424087 rs745893570	151	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9424086 rs745893570	151	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA405738497 rs1430710553	152	T>M		No	ClinGen TOPMed
rs1207317244 CA405738487	154	F>L		No	ClinGen TOPMed gnomAD
rs553352586 CA9424085	155	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757431980 CA9424084	156	T>I		No	ClinGen ExAC gnomAD
rs758754066 CA9424081	158	F>S		No	ClinGen ExAC TOPMed gnomAD
CA9424080 rs560128340	159	S>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	160	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779284829 CA9424062	161	C>R		No	ClinGen ExAC TOPMed gnomAD
CA9424061 rs755414012	161	C>W		No	ClinGen ExAC TOPMed gnomAD
CA405738429 rs1347123075	161	C>Y		No	ClinGen TOPMed
CA405738419 rs372038018	162	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9424060 rs372038018	162	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1168086252 CA405738422	162	C>Y		No	ClinGen gnomAD
rs1039954348 CA308183649	164	K>N		No	ClinGen TOPMed gnomAD
rs142305195 CA9424059	165	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs756786324 CA405738401	165	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs756786324 CA9424058	165	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs147557604 CA9424055	168	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405738382 rs147557604	168	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9424056 rs147557604	168	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751194105 CA9424057	168	D>Y		No	ClinGen ExAC gnomAD
CA405738355 rs1275229083	172	E>A		No	ClinGen gnomAD
TCGA novel	173	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759531862 CA9424052	173	G>S		No	ClinGen ExAC gnomAD
CA308183624 rs1016232677	173	G>V		No	ClinGen Ensembl
rs776774177 CA9424051	175	W>*		No	ClinGen ExAC TOPMed gnomAD
CA308183618 rs984326093	175	W>C		No	ClinGen Ensembl
rs1247770151 CA405738332	176	P>S		No	ClinGen TOPMed
CA405738321 rs1225165851	177	E>D		No	ClinGen gnomAD
rs1469221384 CA405738320	178	L>V		No	ClinGen TOPMed
CA308183615 rs952987504	179	L>P		No	ClinGen TOPMed gnomAD
CA9424049 rs760713666	180	D>A		No	ClinGen ExAC gnomAD
rs750675525 CA405738306	180	D>E		No	ClinGen gnomAD
CA9424047 rs375020908	183	R>G		No	ClinGen ESP ExAC gnomAD
rs1600229164 CA405738280	184	I>S		No	ClinGen Ensembl
rs772148808 CA9424046	184	I>V		No	ClinGen ExAC gnomAD
rs748377164 CA9424045	185	E>*		No	ClinGen ExAC
rs779194592 CA9424044	185	E>G		No	ClinGen ExAC
rs769069394 CA9424043	186	I>F		No	ClinGen ExAC gnomAD
TCGA novel	186	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769069394 CA405738271	186	I>V		No	ClinGen ExAC gnomAD
CA9424041 rs780467479	187	C>*		No	ClinGen ExAC gnomAD
CA9424042 rs749792128	187	C>F		No	ClinGen ExAC
rs1177784179 CA405738249	189	S>F		No	ClinGen TOPMed
TCGA novel	190	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA308183582 rs111281031	190	D>G		No	ClinGen Ensembl
CA405738238 rs1477330257	191	W>*		No	ClinGen TOPMed gnomAD
CA9424020 rs145041815	191	W>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9424019 rs758046659	192	W>*		No	ClinGen ExAC TOPMed gnomAD
CA405737831 rs1600227824	192	W>G		No	ClinGen Ensembl
rs747770133 CA9424018	194	A>V		No	ClinGen ExAC gnomAD
CA9424017 rs148842661	195	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA308181543 rs375668074	195	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375668074 CA9424016	195	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1284817892 CA405737784	196	H>Y		No	ClinGen gnomAD
CA9424014 rs145513352	197	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1316543674 CA405737754	198	S>G		No	ClinGen gnomAD
CA308181518 rs923431957	199	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA405737719 rs1600227790	200	C>R		No	ClinGen Ensembl
CA9424012 rs750436603	200	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs767582463 CA9424011	201	M>I		No	ClinGen ExAC gnomAD
rs1446329924 CA405737701	201	M>R		No	ClinGen TOPMed gnomAD
CA405737704 rs1446329924	201	M>T		No	ClinGen TOPMed gnomAD
rs1206673695 CA405737709	201	M>V		No	ClinGen gnomAD
rs1319499602 CA405737679	202	Y>*		No	ClinGen gnomAD
CA9424008 rs764253515	206	V>A		No	ClinGen ExAC gnomAD
rs377599554 CA9424009	206	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs770250225 CA308181479	211	A>P		No	ClinGen ExAC TOPMed gnomAD
CA9424005 rs770250225	211	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746355794 CA9424004	211	A>V		No	ClinGen ExAC gnomAD
CA9424003 rs777232845	212	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	213	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA405737491 rs1215727397	214	T>I		No	ClinGen gnomAD
rs771683753 CA9424002	215	V>D		No	ClinGen ExAC gnomAD
TCGA novel	216	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375252138 CA9424001	216	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1600227750 CA405737466	217	D>E		No	ClinGen Ensembl
rs978336508 CA308181437	217	D>Y		No	ClinGen TOPMed
rs1320704648 CA405737413	223	P>S		No	ClinGen TOPMed gnomAD
CA405737415 rs1320704648	223	P>T		No	ClinGen TOPMed gnomAD
CA9423998 rs748987624	226	I>V		No	ClinGen ExAC gnomAD
rs199923366 CA9423997	227	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199923366 CA9423996	227	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757208196 CA9423993	228	Q>R		No	ClinGen ExAC gnomAD
CA9423992 rs751598989	229	W>*		No	ClinGen ExAC gnomAD
TCGA novel	230	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1425337024 CA405737317	231	N>K		No	ClinGen gnomAD
CA308181413 rs376116058	232	N>K		No	ClinGen ESP TOPMed gnomAD
CA405737309 rs1349393688	232	N>S		No	ClinGen gnomAD
rs1411872866 CA405737275	236	H>D		No	ClinGen gnomAD
CA9423990 rs763073051	236	H>Q		No	ClinGen ExAC gnomAD
rs1419962459 CA405737271	236	H>R		No	ClinGen gnomAD
rs766867465 CA9423965	240	V>M		No	ClinGen ExAC gnomAD
CA405737212 rs1330871779	241	F>C		No	ClinGen TOPMed gnomAD
CA405737213 rs1330871779	241	F>S		No	ClinGen TOPMed gnomAD
CA9423964 rs761254347	242	S>F		No	ClinGen ExAC gnomAD
CA405737189 COSM1304533 rs151102214	244	I>M	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs768023711 CA9423962	245	K>E		No	ClinGen ExAC gnomAD
CA405737184 rs1222059770	245	K>M		No	ClinGen TOPMed
rs1248348865 CA405737173	246	M>I		No	ClinGen TOPMed
rs528287295 CA9423960	248	V>F		No	ClinGen ExAC TOPMed gnomAD
rs528287295 CA9423959	248	V>I		No	ClinGen ExAC TOPMed gnomAD
CA9423957 rs780951197	249	R>C		No	ClinGen ExAC TOPMed gnomAD
CA308180594 rs961417634	249	R>H		No	ClinGen TOPMed
rs1600227208 CA405737154	250	F>S		No	ClinGen Ensembl
CA9423954 CA9423955 rs139767377	253	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9423952 rs370891116	254	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9423950 rs201679838	255	H>P		No	ClinGen 1000Genomes ExAC TOPMed
CA9423951 rs778859564	255	H>Y		No	ClinGen ExAC gnomAD
rs766850878 CA9423948	256	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs369513367 CA9423949	256	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA9423947 rs756589663	257	G>V		No	ClinGen ExAC TOPMed gnomAD
CA405737098 rs1308628122	259	D>V		No	ClinGen TOPMed gnomAD
CA308180546 rs910417292	261	Q>*		No	ClinGen TOPMed
TCGA novel rs768021249 CA9423945	262	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
CA405737069 rs1291822747	263	W>C		No	ClinGen TOPMed
rs1600227167 CA405737061	264	A>V		No	ClinGen Ensembl
rs762261066 CA9423944	266	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1399836340 CA405737042	267	Y>*		No	ClinGen gnomAD
rs774999328 CA9423943	267	Y>C		No	ClinGen ExAC gnomAD
CA405737046 rs1313131954	267	Y>H		No	ClinGen gnomAD
rs1568459907 CA405737034	269	A>T		No	ClinGen Ensembl
rs1290500823 CA405737026	270	R>C		No	ClinGen TOPMed gnomAD
CA9423942 COSM144811 rs764710611	270	R>H	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9423941 rs759184088	271	V>G		No	ClinGen ExAC gnomAD
TCGA novel	272	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1385525052 CA405737007	273	N>K		No	ClinGen gnomAD
CA308180537 rs112158067	273	N>S		No	ClinGen TOPMed gnomAD
rs112158067 CA405737008	273	N>T		No	ClinGen TOPMed gnomAD
TCGA novel	274	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1231910868 CA405736997	275	S>C		No	ClinGen TOPMed
CA405736996 rs1600227144	275	S>N		No	ClinGen Ensembl
CA9423939 rs770688848	277	I>V		No	ClinGen ExAC gnomAD
rs746754083 CA9423938	278	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9423937 rs371562321	279	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM188934 CA9423936 rs771973559	279	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1488939822 CA405736971	280	V>I		No	ClinGen gnomAD
rs1488939822 CA405736970	280	V>L		No	ClinGen gnomAD
CA9423935 rs369267515	281	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA9423934 rs141960657 COSM188933	281	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1568459876 CA405736944	284	S>Y		No	ClinGen Ensembl

No associated diseases with Q8NI29

2 regional properties for Q8NI29

Type	Name	Position	InterPro Accession
domain	F-box domain	23 - 70	IPR001810
domain	F-box associated (FBA) domain	98 - 280	IPR007397

Functions

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

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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).

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

4 GO annotations of biological process

Name	Definition
glycoprotein catabolic process	The chemical reactions and pathways resulting in the breakdown of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide.
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.
ubiquitin-dependent ERAD pathway	The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9UK22	FBXO2	F-box only protein 2	Homo sapiens (Human)	PR
Q80UW2	Fbxo2	F-box only protein 2	Mus musculus (Mouse)	PR
Q6DIA9	Fbxo27	F-box only protein 27	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MGASVSRGRA	ARVPAPEPEP	EEALDLSQLP	PELLLVVLSH	VPPRTLLGRC	RQVCRGWRAL
70	80	90	100	110	120
VDGQALWLLI	LARDHGATGR	ALLHLARSCQ	SPARNARPCP	LGRFCARRPI	GRNLIRNPCG
130	140	150	160	170	180
QEGLRKWMVQ	HGGDGWVVEE	NRTTVPGAPS	QTCFVTSFSW	CCKKQVLDLE	EEGLWPELLD
190	200	210	220	230	240
SGRIEICVSD	WWGARHDSGC	MYRLLVQLLD	ANQTVLDKFS	AVPDPIPQWN	NNACLHVTHV
250	260	270	280
FSNIKMGVRF	VSFEHRGQDT	QFWAGHYGAR	VTNSSVIVRV	RLS