AiPD: Autoinhibited Protein Database

Q8N3Y1

Gene name	FBXW8 (FBW6, FBW8, FBX29, FBXO29, FBXW6)
Protein name	F-box/WD repeat-containing protein 8
Names	F-box and WD-40 domain-containing protein 8, F-box only protein 29
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26259
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-123 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-123 (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 Q8N3Y1

Entry ID	Method	Resolution	Chain	Position	Source
7Z8B	EM	280 A	F	1-598	PDB
AF-Q8N3Y1-F1	Predicted				AlphaFoldDB

556 variants for Q8N3Y1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs749465020 CA386932526	3	D>N		No	ClinGen ExAC TOPMed
CA6812830 rs749465020	3	D>Y		No	ClinGen ExAC TOPMed
rs1469114759 CA386932539	4	Y>*		No	ClinGen TOPMed gnomAD
rs1400862151 CA386932536	4	Y>C		No	ClinGen gnomAD
TCGA novel	5	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6812831 rs770664743	5	S>N		No	ClinGen ExAC TOPMed gnomAD
CA386932544 rs770664743	5	S>T		No	ClinGen ExAC TOPMed gnomAD
CA6812832 rs774166467	6	L>Q		No	ClinGen ExAC gnomAD
rs928599826 CA245026603	7	D>E		No	ClinGen Ensembl
rs1448359554 CA386932563	8	E>G		No	ClinGen TOPMed gnomAD
CA6812834 rs772032889	9	F>L		No	ClinGen ExAC TOPMed gnomAD
rs772032889 CA386932567	9	F>V		No	ClinGen ExAC TOPMed gnomAD
rs774930316 CA6812835	10	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1319138795 CA386932583	11	R>L		No	ClinGen gnomAD
CA386932586 rs1455664934	12	R>C		No	ClinGen TOPMed
rs1200370180 CA386932598	12	R>L		No	ClinGen gnomAD
rs1593024362 CA386932629	14	Q>K		No	ClinGen Ensembl
rs1444457441 CA386932663	16	E>*		No	ClinGen gnomAD
CA386932667 rs1211147401	16	E>A		No	ClinGen TOPMed gnomAD
CA386932672 rs1211147401	16	E>V		No	ClinGen TOPMed gnomAD
rs1412070292 CA386932751	20	A>V		No	ClinGen TOPMed
rs1195864519 CA386932758	21	Q>*		No	ClinGen gnomAD
CA386932776 rs1424412290	22	A>V		No	ClinGen gnomAD
rs1484037084 CA386932818	25	K>R		No	ClinGen TOPMed
rs776443595 CA6812838	26	R>G		No	ClinGen ExAC gnomAD
CA386932827 rs1593024425	26	R>P		No	ClinGen Ensembl
CA386932829 rs1207586946	27	R>G		No	ClinGen TOPMed
CA245026606 rs931462175	28	R>P		No	ClinGen TOPMed gnomAD
CA245026605 rs931462175	28	R>Q		No	ClinGen TOPMed gnomAD
CA386932900 rs1358158433	31	A>V		No	ClinGen gnomAD
rs1229766221 CA386932918	33	E>*		No	ClinGen TOPMed
rs1383834835 CA386932925	33	E>D		No	ClinGen TOPMed
CA386932929 rs1297092130	34	R>G		No	ClinGen TOPMed
rs1433039761 CA386932936	34	R>T		No	ClinGen TOPMed
rs887301358 CA245026608	36	A>G		No	ClinGen TOPMed gnomAD
CA386932979 rs1457845394	37	R>P		No	ClinGen TOPMed
CA6812841 rs766691499	37	R>W		No	ClinGen ExAC
rs535655795 CA245026610	38	R>L		No	ClinGen 1000Genomes
CA245026609 rs944257565	38	R>W		No	ClinGen TOPMed gnomAD
CA386933008 rs1331367845	39	P>L		No	ClinGen TOPMed gnomAD
CA386933037 rs1038239071	41	V>A		No	ClinGen Ensembl
rs1038239071 CA245026611	41	V>G		No	ClinGen Ensembl
CA386933045 rs1344312567	42	G>C		No	ClinGen gnomAD
rs768078394 CA6812844	45	R>C		No	ClinGen ExAC
rs17857139 CA245026614	46	G>S		No	ClinGen Ensembl
CA386933114 rs1205138813	47	E>*		No	ClinGen TOPMed
CA386933119 rs1347604586	47	E>D		No	ClinGen gnomAD
rs1488127232 CA386933127	48	Q>H		No	ClinGen TOPMed
CA245026615 rs948489963	49	A>S		No	ClinGen TOPMed
rs1264904680 CA386933130	49	A>V		No	ClinGen TOPMed gnomAD
rs1285597011 CA386933138	50	S>L		No	ClinGen TOPMed gnomAD
CA386933139 rs892914508	51	G>R		No	ClinGen TOPMed gnomAD
CA245026617 rs892914508	51	G>W		No	ClinGen TOPMed gnomAD
rs1197790803 CA386933148	52	D>G		No	ClinGen gnomAD
rs1011347996 CA245026618	53	P>L		No	ClinGen TOPMed
rs1487464875 CA386933166	54	A>S		No	ClinGen gnomAD
rs1271066069 CA386933176	54	A>V		No	ClinGen gnomAD
CA245026619 rs906843527	57	Q>E		No	ClinGen TOPMed
rs11068230 CA386933240	58	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs11068230 CA6812845	58	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1264046862 CA386933257	59	L>I		No	ClinGen gnomAD
CA386933259 rs1451091404	59	L>P		No	ClinGen gnomAD
CA386933278 rs1196698457	61	E>K		No	ClinGen gnomAD
CA245026623 rs1035615463	67	P>L		No	ClinGen TOPMed gnomAD
CA386933363 rs1035615463	67	P>Q		No	ClinGen TOPMed gnomAD
rs1593024815 CA386933381	68	A>V		No	ClinGen Ensembl
rs958694273 CA245026624	70	R>G		No	ClinGen TOPMed
CA386933432 rs1490469435	71	A>E		No	ClinGen TOPMed
rs1250796337 CA386933456	73	R>W		No	ClinGen TOPMed
TCGA novel	74	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1593024849 CA386933487	75	E>*		No	ClinGen Ensembl
TCGA novel	77	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386933583 rs919989584	78	D>E		No	ClinGen TOPMed gnomAD
rs1463017847 CA386933559	78	D>N		No	ClinGen TOPMed gnomAD
CA245026627 rs900553882	79	V>L		No	ClinGen TOPMed
CA386933636 rs1378234061	80	A>G		No	ClinGen TOPMed gnomAD
rs1310491913 CA386933625	80	A>T		No	ClinGen TOPMed
rs1350338199 CA386933650	81	S>N		No	ClinGen TOPMed
rs537978133 CA245026628	82	R>P		No	ClinGen 1000Genomes TOPMed gnomAD
CA386933694 rs1337775625	84	R>G		No	ClinGen TOPMed gnomAD
rs982899113 CA245026629	84	R>H		No	ClinGen TOPMed gnomAD
rs1337775625 CA386933692	84	R>S		No	ClinGen TOPMed gnomAD
CA386933729 rs1327108369	87	L>P		No	ClinGen gnomAD
rs944220735 CA245026631	88	A>G		No	ClinGen TOPMed gnomAD
CA245026632 rs1041689905	92	A>S		No	ClinGen Ensembl
rs1480729748 CA386933790	93	G>R		No	ClinGen TOPMed
rs1593024964 CA386933800	93	G>V		No	ClinGen Ensembl
CA245026634 rs931635203	96	E>G		No	ClinGen Ensembl
rs1384517939 CA386933859	97	Q>*		No	ClinGen gnomAD
CA245026635 rs978104903	99	V>A		No	ClinGen TOPMed
CA245026636 rs1050077671	100	D>G		No	ClinGen TOPMed gnomAD
rs1020042332 CA245026638	105	D>H		No	ClinGen TOPMed gnomAD
rs1020042332 CA386933933	105	D>N		No	ClinGen TOPMed gnomAD
CA386934777 rs1310272820	108	E>K		No	ClinGen gnomAD
CA6812865 rs768310872	111	D>G		No	ClinGen ExAC gnomAD
rs761417174 CA6812867	112	V>M		No	ClinGen ExAC TOPMed gnomAD
rs769470627 CA6812868	113	P>S		No	ClinGen ExAC gnomAD
CA6812869 rs772677072	114	F>Y		No	ClinGen ExAC gnomAD
rs1255063638 CA386934919	117	I>M		No	ClinGen TOPMed gnomAD
CA6812870 rs759963255	117	I>N		No	ClinGen ExAC gnomAD
CA6812871 rs759963255	117	I>S		No	ClinGen ExAC gnomAD
rs373731829 CA6812874	120	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6812876 rs753901060	121	Y>*		No	ClinGen ExAC gnomAD
rs750553205 CA6812879	122	E>A		No	ClinGen ExAC gnomAD
rs779200230 CA6812877	122	E>K		No	ClinGen ExAC gnomAD
rs750553205 CA6812878	122	E>V		No	ClinGen ExAC gnomAD
CA6812881 rs746979946	125	I>S		No	ClinGen ExAC TOPMed gnomAD
rs548541039 CA6812882	126	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs747685248 CA6812884	127	I>T		No	ClinGen ExAC gnomAD
CA6812883 rs780902755	127	I>V		No	ClinGen ExAC gnomAD
rs111466325 CA245028504	130	Y>C		No	ClinGen Ensembl
CA6812885 rs769131698	131	L>R		No	ClinGen ExAC gnomAD
CA386935145 rs1232201992	133	R>T		No	ClinGen TOPMed gnomAD
rs1319835455 CA386935159	134	K>R		No	ClinGen gnomAD
CA6812886 rs772944537	136	L>V		No	ClinGen ExAC gnomAD
rs756239272 CA6812887	138	R>G		No	ClinGen ExAC TOPMed gnomAD
CA386935231 rs1482140971	139	C>Y		No	ClinGen TOPMed gnomAD
rs747991127 CA6812904	142	V>M		No	ClinGen ExAC TOPMed gnomAD
rs755683763 CA6812905	144	K>R		No	ClinGen ExAC TOPMed gnomAD
rs777119668 CA6812906	145	T>M		No	ClinGen ExAC gnomAD
CA386929233 rs1157060207	146	W>*		No	ClinGen TOPMed gnomAD
rs144884698 CA6812908	148	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs747379157 CA6812910	149	I>F		No	ClinGen ExAC gnomAD
CA6812911 rs372502629	151	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1352668925 CA386929317	152	D>G		No	ClinGen gnomAD
rs377532127 CA6812913	153	E>K		No	ClinGen ESP ExAC
CA386929347 rs1237569243	154	V>E		No	ClinGen gnomAD
CA6812914 rs566862321	156	W>R		No	ClinGen 1000Genomes ExAC gnomAD
rs80338997 CA245030301	160	C>G		No	ClinGen Ensembl
CA6812916 rs763321869	160	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA386929474 rs1487824017	165	H>P		No	ClinGen gnomAD
CA6812918 rs751761724	165	H>Q		No	ClinGen ExAC gnomAD
rs1487824017 CA386929476	165	H>R		No	ClinGen gnomAD
CA6812919 rs754845865	167	P>A		No	ClinGen ExAC gnomAD
CA6812920 rs201854291	167	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1039210607 CA245030303	168	D>E		No	ClinGen gnomAD
rs199840349 CA6812922	168	D>G		No	ClinGen ExAC
CA6812921 rs752723013	168	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1401376436 CA386929521	169	S>C		No	ClinGen gnomAD
rs900295055 CA245030304	169	S>I		No	ClinGen Ensembl
rs1164245228 CA386929546	171	I>V		No	ClinGen gnomAD
CA6812925 rs748745398	174	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs756689499 CA6812926	175	S>C		No	ClinGen ExAC TOPMed gnomAD
CA6812927 rs200870596	176	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1311004695 CA386929633	177	W>*		No	ClinGen TOPMed gnomAD
rs745473873 CA245030306	178	K>N		No	ClinGen ExAC TOPMed gnomAD
rs144672119 CA245030308	181	F>L		No	ClinGen ESP
rs1293495275 CA386929681	181	F>S		No	ClinGen TOPMed
rs1360000419 CA386929694	182	Q>*		No	ClinGen gnomAD
CA6812930 rs776828825	183	E>K		No	ClinGen ExAC TOPMed gnomAD
rs200144890 CA6812931	185	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs200144890 CA386929735	185	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1032919047 CA245030309	185	R>Q		No	ClinGen TOPMed gnomAD
CA386929751 rs1457605620	186	A>G		No	ClinGen TOPMed gnomAD
CA386929752 rs1457605620	186	A>V		No	ClinGen TOPMed gnomAD
rs889541304 CA245030310	188	E>*		No	ClinGen TOPMed gnomAD
CA6812932 rs138622771	189	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA245030311 rs1010633815	190	M>I		No	ClinGen gnomAD
rs773403377 CA6812933	190	M>V		No	ClinGen ExAC gnomAD
rs763125957 CA386929790	192	R>*		No	ClinGen ExAC gnomAD
rs4076700 CA386929791	192	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs4076700 CA6812935 VAR_060326	192	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1019739296 CA386929804	194	N>K		No	ClinGen TOPMed gnomAD
rs774749274 CA6812936	194	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6812960 rs753804526	198	R>C		No	ClinGen ExAC TOPMed gnomAD
rs575752045 CA6812962	198	R>H		No	ClinGen ExAC TOPMed gnomAD
rs575752045 CA6812961	198	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1170657125 CA386929854	199	K>R		No	ClinGen gnomAD
CA386929865 rs758133267	201	A>S		No	ClinGen ExAC TOPMed gnomAD
rs758133267 CA6812964	201	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1054013262 CA245030729	201	A>V		No	ClinGen TOPMed gnomAD
rs756646324 CA6812965	202	V>M		No	ClinGen ExAC TOPMed gnomAD
rs894072723 CA386929882	204	E>*		No	ClinGen TOPMed gnomAD
rs894072723 CA245030732	204	E>K		No	ClinGen TOPMed gnomAD
rs1174103033 CA386929899	206	E>D		No	ClinGen Ensembl
CA386929898 rs1329744090	206	E>V		No	ClinGen TOPMed
rs1273508037 CA386929907	207	H>Q		No	ClinGen gnomAD
CA386929902 rs1436369390	207	H>Y		No	ClinGen gnomAD
rs1045277600 CA245030733	209	P>T		No	ClinGen TOPMed
CA6812967 rs145405264	210	D>H		No	ClinGen ESP ExAC TOPMed
CA245030734 rs145405264	210	D>N		No	ClinGen ESP ExAC TOPMed
RCV000972861 rs36021180 CA6812968 VAR_057597	211	T>A		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1565909993 CA386929929	211	T>I		No	ClinGen Ensembl
rs1421195739 CA386929942	213	L>F		No	ClinGen gnomAD
CA6812969 rs749863935	215	D>G		No	ClinGen ExAC gnomAD
CA386929956 rs749863935	215	D>V		No	ClinGen ExAC gnomAD
CA386929968 rs1206916438	217	H>P		No	ClinGen gnomAD
CA386929972 rs1285030836	217	H>Q		No	ClinGen gnomAD
CA386929985 CA6812973 rs759548178	219	H>Q		No	ClinGen ExAC gnomAD
CA6812974 rs145823135	220	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA245030735 rs61748074	220	D>V		No	ClinGen TOPMed gnomAD
rs775599245 CA245030736	221	G>A		No	ClinGen ExAC TOPMed gnomAD
CA6812975 rs775599245	221	G>D		No	ClinGen ExAC TOPMed gnomAD
rs760910615 CA6812976	224	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6812977 rs368238777	225	A>T		No	ClinGen ESP ExAC gnomAD
CA245030738 rs887081027	225	A>V		No	ClinGen TOPMed gnomAD
rs371809248 CA6812978	226	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA386931896 rs1242609015	227	Y>C		No	ClinGen gnomAD
CA386931923 rs1335450077	228	T>I		No	ClinGen TOPMed gnomAD
rs373361925 CA6813004	230	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA245032317 rs867635391	231	D>N		No	ClinGen gnomAD
rs1196040033 CA386932040	234	V>A		No	ClinGen gnomAD
CA6813006 rs752339865 COSM167631	236	D>G	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6813007 rs757721439	237	T>A		No	ClinGen ExAC gnomAD
rs765658173 CA6813008	237	T>I		No	ClinGen ExAC gnomAD
CA6813009 rs202064358	238	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758915610 CA6813010	238	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6813011 rs780055001	240	W>C		No	ClinGen ExAC TOPMed gnomAD
CA386932158 rs1463818137	241	D>G		No	ClinGen gnomAD
CA6813012 rs747107370	242	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs781402288 CA6813014	243	V>I		No	ClinGen ExAC TOPMed gnomAD
rs748317810 CA6813015	245	P>L		No	ClinGen ExAC gnomAD
CA245032318 rs556252402	246	F>L		No	ClinGen Ensembl
rs749244257 CA245032319	251	D>N		No	ClinGen ExAC TOPMed gnomAD
rs749244257 CA6813018	251	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA6813020 rs774093429	252	E>K		No	ClinGen ExAC gnomAD
CA245032320 rs959023860	253	E>A		No	ClinGen TOPMed
rs141777878 CA6813021	253	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386932326 rs1212541733	254	D>N		No	ClinGen TOPMed gnomAD
CA386932328 rs1212541733	254	D>Y		No	ClinGen TOPMed gnomAD
CA6813022 rs747303532	256	P>A		No	ClinGen ExAC TOPMed gnomAD
CA6813025 rs150595593	258	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6813024 rs760374559	258	M>R		No	ClinGen ExAC gnomAD
rs750784821 CA6813026	261	N>D		No	ClinGen ExAC gnomAD
CA386932389 rs1194409713	263	S>P		No	ClinGen gnomAD
CA6813027 rs559416426	266	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6813029 rs200370746	270	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200370746 CA386932440	270	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1592896972 CA386932437	270	S>T		No	ClinGen Ensembl
CA386932464 rs1275551546	274	A>E		No	ClinGen TOPMed
rs1196787770 CA386932476	276	Y>C		No	ClinGen TOPMed
CA386932489 rs1301824190	278	D>N		No	ClinGen TOPMed
CA386934336 rs766599677	279	G>A		No	ClinGen ExAC gnomAD
CA6813049 rs766599677	279	G>E		No	ClinGen ExAC gnomAD
CA386934345 rs1221709274	280	F>L		No	ClinGen TOPMed gnomAD
rs760001832 CA6813051	281	L>F		No	ClinGen ExAC gnomAD
rs377396777 CA6813052	282	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs752772480 CA6813053	283	I>S		No	ClinGen ExAC gnomAD
CA386934380 rs1254016180	285	D>E		No	ClinGen gnomAD
CA386934375 rs1215882234	285	D>Y		No	ClinGen gnomAD
rs138718240 CA386934402	289	G>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6813055 rs138718240	289	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386934424 rs1175677041	292	P>L		No	ClinGen TOPMed gnomAD
CA386934426 rs1175677041	292	P>R		No	ClinGen TOPMed gnomAD
rs376064436 CA245034465	292	P>S		No	ClinGen ESP TOPMed
rs1419704502 CA386934428	293	V>L		No	ClinGen gnomAD
rs1163993194 CA386934434	294	H>D		No	ClinGen gnomAD
rs757106982 CA6813057	295	R>C		No	ClinGen ExAC TOPMed gnomAD
rs576076851 CA6813058	295	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs576076851 CA6813059	295	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757106982 CA245034466	295	R>S		No	ClinGen ExAC TOPMed gnomAD
CA6813060 rs772121005	296	F>L		No	ClinGen ExAC gnomAD
rs1399241093 CA386934464	298	H>R		No	ClinGen gnomAD
CA6813062 rs746521814	301	R>K		No	ClinGen ExAC gnomAD
CA386934494 rs1373470407	302	I>M		No	ClinGen TOPMed gnomAD
rs1227182491 CA386934496	303	Q>E		No	ClinGen TOPMed gnomAD
CA245034467 rs147459619	303	Q>R		No	ClinGen ESP gnomAD
rs1333409929 CA386934513	305	L>R		No	ClinGen gnomAD
rs767993065 CA6813063	306	A>S		No	ClinGen ExAC TOPMed gnomAD
rs767993065 CA386934515	306	A>T		No	ClinGen ExAC TOPMed gnomAD
CA386934517 rs1348285721	306	A>V		No	ClinGen TOPMed
CA6813065 rs761329243	310	D>A		No	ClinGen ExAC gnomAD
CA6813064 rs776364760	310	D>H		No	ClinGen ExAC TOPMed gnomAD
rs774568782 CA6813067	311	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6813069 rs768020293	312	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1158584587 CA386934560	313	T>A		No	ClinGen TOPMed
CA6813071 rs760766306	314	V>M		No	ClinGen ExAC gnomAD
rs1422686352 CA386934578	316	T>A		No	ClinGen gnomAD
CA386934581 rs1236161668	316	T>I		No	ClinGen TOPMed gnomAD
CA386934583 rs1407965861	317	A>P		No	ClinGen TOPMed gnomAD
CA386934582 rs1407965861	317	A>T		No	ClinGen TOPMed gnomAD
rs764042041 CA6813072	318	S>A		No	ClinGen ExAC TOPMed gnomAD
CA6813074 rs757400706	319	A>G		No	ClinGen ExAC TOPMed gnomAD
CA6813073 rs572688206	319	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6813075 rs765136531	320	F>S		No	ClinGen ExAC TOPMed gnomAD
rs750237899 CA6813076	321	D>E		No	ClinGen ExAC gnomAD
CA386934613 rs1462638122	322	V>F		No	ClinGen TOPMed
CA6813077 rs758199870	322	V>G		No	ClinGen ExAC TOPMed gnomAD
rs372519246 CA386934617	323	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6813078 rs372519246	323	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6813079 rs746889988	324	M>I		No	ClinGen ExAC TOPMed gnomAD
rs780533305 CA6813082	327	P>A		No	ClinGen ExAC gnomAD
CA386934646 rs1308366888	327	P>L		No	ClinGen gnomAD
rs1239234869 CA386934647	328	N>H		No	ClinGen TOPMed
rs772788672 CA6813085	328	N>K		No	ClinGen ExAC gnomAD
CA6813084 rs374144630	328	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs368810654 CA245034468	330	E>*		No	ClinGen Ensembl
CA245034470 rs912652158	333	W>*		No	ClinGen Ensembl
rs772381775 CA6813087	333	W>*		No	ClinGen ExAC gnomAD
CA6813086 rs746248900	333	W>G		No	ClinGen ExAC gnomAD
CA6813088 rs373043679	334	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs761055530 CA245034471	336	A>G		No	ClinGen ExAC gnomAD
rs761055530 CA6813089	336	A>V		No	ClinGen ExAC gnomAD
CA386934710 rs1376778129	337	A>V		No	ClinGen TOPMed gnomAD
rs368144498 CA245034472	339	F>S		No	ClinGen ESP
rs776561341 CA6813092	342	P>A		No	ClinGen ExAC
rs561509304 CA6813093	342	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763233036 CA6813115	347	Y>H		No	ClinGen ExAC gnomAD
CA386935415 rs1284784122	349	E>D		No	ClinGen gnomAD
CA386935424 rs1277741868	351	V>L		No	ClinGen TOPMed
CA386935444 rs1592930184	354	T>P		No	ClinGen Ensembl
rs1211646103 CA386935458	356	R>W		No	ClinGen gnomAD
CA386935469 rs1254640811	357	Y>S		No	ClinGen gnomAD
CA386935481 rs1180624125	359	V>A		No	ClinGen gnomAD
CA6813116 rs766323509	359	V>L		No	ClinGen ExAC gnomAD
rs751296718 CA6813117	361	V>L		No	ClinGen ExAC gnomAD
rs759311689 CA386935495	362	A>S		No	ClinGen ExAC TOPMed gnomAD
rs759311689 CA6813119	362	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6813123 rs755615235	363	A>S		No	ClinGen ExAC TOPMed gnomAD
rs755615235 CA6813122	363	A>T		No	ClinGen ExAC TOPMed gnomAD
rs756891269 CA6813125	364	A>G		No	ClinGen ExAC gnomAD
rs753539482 CA6813124	364	A>P		No	ClinGen ExAC TOPMed gnomAD
CA6813126 rs780466464	368	M>K		No	ClinGen ExAC TOPMed gnomAD
rs374795754 CA6813128	371	L>F		No	ClinGen ESP ExAC gnomAD
rs1231342944 CA386935551	371	L>R		No	ClinGen gnomAD
rs1265413156 CA386935573	374	E>D		No	ClinGen gnomAD
rs781570701 CA6813131	374	E>K		No	ClinGen ExAC TOPMed gnomAD
CA386935589 rs151338590	377	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6813133 rs151338590	377	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs774812881 CA6813134	378	R>K		No	ClinGen ExAC gnomAD
rs763321710 CA6813135	379	T>A		No	ClinGen ExAC gnomAD
rs1420514257 CA386935601	379	T>N		No	ClinGen gnomAD
rs763321710 CA386935599	379	T>P		No	ClinGen ExAC gnomAD
CA245034815 rs17853730	380	L>I		No	ClinGen Ensembl
rs759275514 CA6813139	382	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs763429979	382	Y>*		No	ExAC
CA6813138 rs774578340	382	Y>F		No	ClinGen ExAC gnomAD
rs771285128 CA6813137	382	Y>H		No	ClinGen ExAC
rs199846352 CA6813140	383	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1592930484 CA386935628	384	H>P		No	ClinGen Ensembl
rs752616383 CA386935632	384	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA386935627 rs1423736617	384	H>Y		No	ClinGen Ensembl
rs140698430 CA6813143	385	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs760584211 CA6813142	385	G>S		No	ClinGen ExAC gnomAD
CA6813144 rs547950465	386	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6813146 rs778548510	390	C>R		No	ClinGen ExAC gnomAD
CA6813148 rs755328748	393	V>I		No	ClinGen ExAC gnomAD
rs781585590 CA6813149	394	S>L		No	ClinGen ExAC TOPMed gnomAD
rs781585590 CA386935689	394	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1186430012 CA386935695	395	A>V		No	ClinGen gnomAD
rs1260155784 CA386935697	396	N>D		No	ClinGen gnomAD
rs748649049 CA6813150	396	N>I		No	ClinGen ExAC gnomAD
rs1592930596 CA386935705	397	Q>E		No	ClinGen Ensembl
CA386935707 rs1192999072	397	Q>R		No	ClinGen TOPMed gnomAD
CA6813151 rs369751629	398	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6813153 rs749394927	403	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA386935743 rs749394927	403	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1592930630 CA386935752	404	G>D		No	ClinGen Ensembl
CA386935762 rs1374962238	406	G>*		No	ClinGen gnomAD
CA386935765 rs1432875292	406	G>A		No	ClinGen gnomAD
rs887698200 CA245034817	407	W>*		No	ClinGen Ensembl
rs1314664728 CA386935772	407	W>C		No	ClinGen gnomAD
CA245034818 rs372916639	408	V>M		No	ClinGen ESP
rs1379884273 CA386935784	409	Y>F		No	ClinGen gnomAD
rs376730495 CA6813155	410	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA386935797 rs1201733192	411	G>E		No	ClinGen TOPMed
CA6813156 rs746076298	412	S>G		No	ClinGen ExAC gnomAD
rs561452724 CA6813157	412	S>N		No	ClinGen 1000Genomes ExAC
rs775343346 CA6813158	413	K>N		No	ClinGen ExAC gnomAD
rs1469294710 CA386935811	413	K>R		No	ClinGen TOPMed
rs1195712254 CA386873785	414	I>M		No	ClinGen gnomAD
rs959160740 CA244195885	415	L>P		No	ClinGen Ensembl
rs201464590 CA244195890	419	L>P		No	ClinGen TOPMed
CA386873865 rs762577736	421	A>G		No	ClinGen ExAC gnomAD
CA386873862 rs1352613873	421	A>T		No	ClinGen TOPMed
CA6813184 rs762577736	421	A>V		No	ClinGen ExAC gnomAD
rs766057999 CA6813185	423	R>C		No	ClinGen ExAC gnomAD
rs372814319 CA6813186	423	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs143124570 CA6813188	424	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6813189 rs754445219	424	R>H		No	ClinGen ExAC gnomAD
rs1565940242 CA386873990	428	L>P		No	ClinGen Ensembl
rs1389121297 CA386874000	429	G>D		No	ClinGen TOPMed gnomAD
CA6813191 rs778930940	430	N>D		No	ClinGen ExAC gnomAD
rs370355248 CA6813194	431	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370355248 CA6813193	431	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747189414 CA6813195	432	L>R		No	ClinGen ExAC gnomAD
CA6813196 rs768476081	433	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6813197 rs780938860	433	R>H		No	ClinGen ExAC TOPMed gnomAD
CA386874071 rs1565940287	436	T>M		No	ClinGen Ensembl
CA6813201 rs772954599	438	V>A		No	ClinGen ExAC gnomAD
CA386874106 rs1175622967	439	N>D		No	ClinGen gnomAD
CA386874119 rs1206157766	439	N>K		No	ClinGen TOPMed
rs375530922 CA6813202	439	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA386874112 rs375530922	439	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA386874122 rs1330891782	440	L>F		No	ClinGen TOPMed gnomAD
CA386874121 rs1330891782	440	L>I		No	ClinGen TOPMed gnomAD
CA386874161 rs1352928939	442	D>E		No	ClinGen TOPMed
CA6813203 rs529437056	442	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1462755588 CA386874165	443	S>G		No	ClinGen gnomAD
rs1163363578 CA386874172	443	S>R		No	ClinGen Ensembl
rs774188489 CA6813204	445	P>S		No	ClinGen ExAC gnomAD
CA244195973 rs936213412	446	N>K		No	ClinGen gnomAD
rs759241928 CA6813205	448	M>V		No	ClinGen ExAC gnomAD
rs202244572 CA244195986	453	M>T		No	ClinGen Ensembl
CA6813208 rs201482214	455	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6813210 rs765789388	456	R>K		No	ClinGen ExAC gnomAD
CA244205125 rs1007445040	457	V>G		No	ClinGen Ensembl
rs140275022 CA6813231	457	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6813235 rs752812167	461	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6813236 rs755978794	462	L>F		No	ClinGen ExAC gnomAD
CA6813237 rs777410294	463	R>C		No	ClinGen ExAC TOPMed gnomAD
rs186364302 CA6813238	463	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA386876913 rs186364302	463	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1317095166 CA386876938	465	G>D		No	ClinGen TOPMed
rs757259768 CA6813239	465	G>S		No	ClinGen ExAC gnomAD
rs201980011 CA244205154	466	N>K		No	ClinGen Ensembl
CA6813240 rs562344927	466	N>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs745387186 CA6813241	467	I>V		No	ClinGen ExAC gnomAD
rs1322958593 CA386876975	468	A>T		No	ClinGen gnomAD
rs775236710 CA6813243	468	A>V		No	ClinGen ExAC gnomAD
CA6813245 rs770239908	470	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1032198825 CA244205192	471	L>P		No	ClinGen TOPMed
CA6813247 rs763584146	472	S>A		No	ClinGen ExAC gnomAD
CA244205213 rs751418793	472	S>F		No	ClinGen gnomAD
rs774780381 CA6813249	473	A>T		No	ClinGen ExAC
rs1210429131 CA386877036	473	A>V		No	ClinGen gnomAD
CA6813251 rs778584640	474	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs753013450 CA6813252	475	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA386877057 rs1340293025	475	Q>H		No	ClinGen gnomAD
rs1247977946 CA386877056	475	Q>R		No	ClinGen gnomAD
rs756278002 CA6813253	476	L>R		No	ClinGen ExAC gnomAD
CA6813254 rs371323948	477	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA386877088 rs1349468775	478	V>I		No	ClinGen TOPMed
rs866731001 CA244205238	479	S>F		No	ClinGen gnomAD
rs1389819265 CA386877132	481	V>A		No	ClinGen gnomAD
CA6813257 rs753583688	481	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6813256 rs753583688	481	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1164104186 CA386877164	483	M>I		No	ClinGen TOPMed
CA386877156 rs1440478310	483	M>L		No	ClinGen gnomAD
rs1324090582 CA386877160	483	M>T		No	ClinGen gnomAD
CA6813258 rs779019930	484	D>N		No	ClinGen ExAC gnomAD
rs1279021504 CA386877209	486	W>*		No	ClinGen TOPMed gnomAD
CA6813260 rs551801664	486	W>*		No	ClinGen 1000Genomes ExAC gnomAD
rs138020987 CA6813262	489	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs746728965 CA6813263	490	S>N		No	ClinGen ExAC gnomAD
rs1211439379 CA386877274	491	G>R		No	ClinGen gnomAD
rs556933871 CA244205282	493	E>K		No	ClinGen TOPMed gnomAD
CA386877353 rs1592972776	497	V>G		No	ClinGen Ensembl
rs1471926960 CA386877348	497	V>M		No	ClinGen gnomAD
rs943936320 CA244205309	499	V>E		No	ClinGen TOPMed
CA244205293 rs374653714	499	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374653714 CA6813268	499	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA244205317 rs1040946192	500	W>G		No	ClinGen TOPMed
CA6813269 rs760015810	501	D>H		No	ClinGen ExAC TOPMed gnomAD
CA6813271 rs775427815	503	R>G		No	ClinGen ExAC gnomAD
rs760745222 CA6813272	503	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs143179786 CA6813273	504	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6813274 rs754045446	506	Q>*		No	ClinGen ExAC gnomAD
rs536352665 CA6813276	508	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA244205354 rs771851435	509	W>C		No	ClinGen Ensembl
CA386877489 rs1434087991	509	W>R		No	ClinGen TOPMed
CA6813279 rs765090300	510	E>K		No	ClinGen ExAC TOPMed
rs1592972887 CA386877524	511	V>G		No	ClinGen Ensembl
CA6813281 rs758392607	512	Y>*		No	ClinGen ExAC gnomAD
rs779678271 CA6813282	513	S>Y		No	ClinGen ExAC gnomAD
CA6813284 CA6813283 rs142010584	514	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1592976568 CA386878414	515	H>P		No	ClinGen Ensembl
rs142895219 CA6813311	516	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1228645338 CA386878495	519	H>Q		No	ClinGen gnomAD
CA386878513 rs1302089288	520	I>N		No	ClinGen TOPMed gnomAD
rs376899001 CA6813313	521	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA244208018 rs991571765	522	F>L		No	ClinGen TOPMed gnomAD
rs1026687271 CA244208019	522	F>L		No	ClinGen Ensembl
CA386878548 rs991571765	522	F>V		No	ClinGen TOPMed gnomAD
CA6813314 RCV000947496 rs147449897	523	S>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1418308449 CA386878589	524	S>G		No	ClinGen TOPMed
rs770142203 CA6813316	528	I>V		No	ClinGen ExAC gnomAD
rs80100705 CA6813317	529	T>K		No	ClinGen ExAC TOPMed gnomAD
rs80100705 CA386878722	529	T>M		No	ClinGen ExAC TOPMed gnomAD
rs80100705 CA244208050	529	T>R		No	ClinGen ExAC TOPMed gnomAD
rs868211841 CA244208085	530	A>T		No	ClinGen Ensembl
rs766156067 CA6813320	531	N>D		No	ClinGen ExAC TOPMed gnomAD
rs369031440 CA6813322	532	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752208312 CA6813324	534	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs752208312 CA386878774	534	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs3741466 RCV000879325 VAR_057598 CA6813326	536	T>M		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA244208111 rs373283900	537	V>I		No	ClinGen ESP TOPMed
rs758732006 CA6813328	539	R>*		No	ClinGen ExAC gnomAD
rs555248947 CA386878808	539	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6813329 rs555248947	539	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6813331 rs755502394	541	A>T		No	ClinGen ExAC gnomAD
CA6813336 rs773598560	542	D>E		No	ClinGen ExAC TOPMed gnomAD
rs769945210 CA6813334	542	D>N		No	ClinGen ExAC TOPMed gnomAD
CA386878863 rs1331622908	544	D>H		No	ClinGen gnomAD
rs770679139 CA6813337	545	S>G		No	ClinGen ExAC gnomAD
rs774193211 CA6813338	547	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6813339 rs376159680	547	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs376159680 CA6813340	547	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1418484284 CA386878961	551	R>G		No	ClinGen gnomAD
CA386878966 rs1179872790	551	R>K		No	ClinGen gnomAD
CA6813360 rs139880165	553	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6813359 rs199668216	553	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386879113 rs1370211141	554	G>E		No	ClinGen Ensembl
CA386879109 CA386879108 rs1313634482	554	G>R		No	ClinGen TOPMed gnomAD
rs1592977687 CA386879124	555	L>R		No	ClinGen Ensembl
CA6813361 rs760588207	556	I>M		No	ClinGen ExAC gnomAD
rs1341703106 CA386879137	556	I>T		No	ClinGen gnomAD
rs569559960 CA6813363	557	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368052577 CA6813364	557	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6813366 rs139429411	558	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1484074672 CA386879171	559	Y>C		No	ClinGen TOPMed gnomAD
rs767961305 CA6813368	560	E>K		No	ClinGen ExAC gnomAD
rs753304747 CA6813369	561	F>L		No	ClinGen ExAC gnomAD
CA6813371 rs536148392	562	A>G		No	ClinGen ExAC TOPMed gnomAD
rs536148392 CA6813370	562	A>V		No	ClinGen ExAC TOPMed gnomAD
VAR_062096 CA6813374 rs56350562	563	V>M		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA386879237 rs746049377	564	D>A		No	ClinGen ExAC TOPMed gnomAD
CA6813376 rs771906729	564	D>E		No	ClinGen ExAC
rs1458588439 CA386879233	564	D>H		No	ClinGen gnomAD
rs746049377 CA6813375	564	D>V		No	ClinGen ExAC TOPMed gnomAD
CA6813377 rs779815951	565	Q>P		No	ClinGen ExAC gnomAD
CA386879290 rs1296319044	568	F>S		No	ClinGen TOPMed
rs202073605 CA6813378	569	Q>*		No	ClinGen ExAC gnomAD
CA386879306 rs1295453258	569	Q>H		No	ClinGen gnomAD
rs148574295 CA244208990	571	P>A		No	ClinGen ESP TOPMed
CA386879339 rs1364784842	571	P>L		No	ClinGen TOPMed gnomAD
rs148574295 CA386879332	571	P>S		No	ClinGen ESP TOPMed
rs1299944030 CA386879348	572	L>P		No	ClinGen gnomAD
CA386879343 rs1433141584	572	L>V		No	ClinGen gnomAD
rs865975946 CA244208995	573	P>L		No	ClinGen Ensembl
CA6813379 rs768580987	573	P>S		No	ClinGen ExAC TOPMed gnomAD
rs144534729 CA244209000	574	V>I		No	ClinGen ESP TOPMed gnomAD
CA6813380 rs573936488	575	C>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536679658 CA6813381	575	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs191628514 CA6813383	576	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6813384 rs762672210	576	R>H		No	ClinGen ExAC TOPMed gnomAD
CA244209037 rs191628514	576	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6813385 rs768051529	578	S>P		No	ClinGen ExAC gnomAD
CA6813388 rs145176998	579	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139120742 CA6813390	581	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6813389 rs139120742	581	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA386879468 rs1177311757	582	M>K		No	ClinGen gnomAD
CA386879459 rs778839147	582	M>L		No	ClinGen ExAC gnomAD
rs778839147 CA6813391	582	M>V		No	ClinGen ExAC gnomAD
rs750706575 CA6813392	583	A>P		No	ClinGen ExAC
CA6813393 rs144038917	584	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs780179599 CA6813394	585	H>N		No	ClinGen ExAC gnomAD
rs746815419 CA6813395	585	H>P		No	ClinGen ExAC gnomAD
rs113291277 CA244209093	585	H>Q		No	ClinGen TOPMed
rs780179599 CA386879500	585	H>Y		No	ClinGen ExAC gnomAD
rs1366040448 CA386879530	587	Y>C		No	ClinGen gnomAD
CA386879553 rs1369691779	588	D>E		No	ClinGen TOPMed gnomAD
CA6813397 rs781217066	588	D>N		No	ClinGen ExAC gnomAD
rs201176652 CA6813398	589	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs199926759 CA6813400	590	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150967720 CA6813402	591	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1450678167 CA386879587	592	A>P		No	ClinGen gnomAD
CA386879593 rs1196174977	592	A>V		No	ClinGen gnomAD
rs1247925001 CA386879597	593	F>L		No	ClinGen gnomAD
rs1411692959 CA386879640	595	Y>*		No	ClinGen gnomAD
CA386879630 rs1200729193	595	Y>D		No	ClinGen gnomAD
CA386879629 rs1200729193	595	Y>H		No	ClinGen gnomAD
CA6813403 rs778279893	597	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1455925615 CA386879657	597	H>Y		No	ClinGen gnomAD
rs1168031572 CA386879683	598	V>A		No	ClinGen TOPMed
rs202144648 CA6813405	599	V>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD

No associated diseases with Q8N3Y1

6 regional properties for Q8N3Y1

Type	Name	Position	InterPro Accession
repeat	WD40 repeat	198 - 236	IPR001680-1
repeat	WD40 repeat	239 - 285	IPR001680-2
repeat	WD40 repeat	289 - 326	IPR001680-3
repeat	WD40 repeat	425 - 461	IPR001680-4
repeat	WD40 repeat	464 - 510	IPR001680-5
domain	F-box domain	113 - 161	IPR001810

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, perinuclear region Golgi apparatus	Colocalizes with CUL7 at the Golgi apparatus in neurons
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
Cul7-RING ubiquitin ligase complex	A ubiquitin ligase complex in which a cullin from the Cul7 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by a Skp1 linker and an F-box protein.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
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

7 GO annotations of biological process

Name	Definition
cell population proliferation	The multiplication or reproduction of cells, resulting in the expansion of a cell population.
Golgi organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus.
labyrinthine layer blood vessel development	The process whose specific outcome is the progression of a blood vessel of the labyrinthine layer of the placenta over time, from its formation to the mature structure. The embryonic vessels grow through the layer to come in close contact with the maternal blood supply.
positive regulation of dendrite morphogenesis	Any process that activates or increases the frequency, rate or extent of dendrite morphogenesis.
positive regulation of transcription factor catabolic process	Any process that activates or increases the frequency, rate or extent of transcription factor catabolic process.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.
spongiotrophoblast layer development	The process in which the spongiotrophoblast layer of the placenta progresses from its formation to its mature state.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q969H0	FBXW7	F-box/WD repeat-containing protein 7	Homo sapiens (Human)	PR
Q008S8	ECT2L	Epithelial cell-transforming sequence 2 oncogene-like	Homo sapiens (Human)	PR
Q9QZM9	Fbxo16	F-box only protein 16	Mus musculus (Mouse)	PR
Q8BIA4	Fbxw8	F-box/WD repeat-containing protein 8	Mus musculus (Mouse)	PR
P0DL28	Fbxw8	F-box/WD repeat-containing protein 8	Rattus norvegicus (Rat)	PR
A2CEH0	poc1b	POC1 centriolar protein homolog B	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MDDYSLDEFR	RRWQEELAQA	QAPKKRRRPE	AAERRARRPE	VGSGRGEQAS	GDPALAQRLL
70	80	90	100	110	120
EGAGRPPAAR	ATRAEGQDVA	SRSRSPLARE	GAGGGEQLVD	QLIRDLNEMN	DVPFFDIQLP
130	140	150	160	170	180
YELAINIFQY	LDRKELGRCA	QVSKTWKVIA	EDEVLWYRLC	QQEGHLPDSS	ISDYSCWKLI
190	200	210	220	230	240
FQECRAKEHM	LRTNWKNRKG	AVSELEHVPD	TVLCDVHSHD	GVVIAGYTSG	DVRVWDTRTW
250	260	270	280	290	300
DYVAPFLESE	DEEDEPGMQP	NVSFVRINSS	LAVAAYEDGF	LNIWDLRTGK	YPVHRFEHDA
310	320	330	340	350	360
RIQALALSQD	DATVATASAF	DVVMLSPNEE	GYWQIAAEFE	VPKLVQYLEI	VPETRRYPVA
370	380	390	400	410	420
VAAAGDLMYL	LKAEDSARTL	LYAHGPPVTC	LDVSANQVAF	GVQGLGWVYE	GSKILVYSLE
430	440	450	460	470	480
AGRRLLKLGN	VLRDFTCVNL	SDSPPNLMVS	GNMDGRVRIH	DLRSGNIALS	LSAHQLRVSA
490	500	510	520	530	540
VQMDDWKIVS	GGEEGLVSVW	DYRMNQKLWE	VYSGHPVQHI	SFSSHSLITA	NVPYQTVMRN
550	560	570	580	590
ADLDSFTTHR	RHRGLIRAYE	FAVDQLAFQS	PLPVCRSSCD	AMATHYYDLA	LAFPYNHV