AiPD: Autoinhibited Protein Database

Q9NV06

Gene name	DCAF13 (WDSOF1, HSPC064)
Protein name	DDB1- and CUL4-associated factor 13
Names	WD repeat and SOF domain-containing protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:25879
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

364-445 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

364-445 (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

4 structures for Q9NV06

Entry ID	Method	Resolution	Chain	Position	Source
7MQ8	EM	360 A	LU	1-445	PDB
7MQ9	EM	387 A	LU	1-445	PDB
7MQA	EM	270 A	LU	1-445	PDB
AF-Q9NV06-F1	Predicted				AlphaFoldDB

372 variants for Q9NV06

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs778509989 CA4835798	3	V>A		No	ClinGen ExAC TOPMed gnomAD
CA371633767 rs778509989	3	V>G		No	ClinGen ExAC TOPMed gnomAD
CA4835797 rs757088496	3	V>M		No	ClinGen ExAC gnomAD
COSM160337 rs1273723153 CA371633783	4	K>N	NS [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1202179705 CA371633769	4	K>Q		No	ClinGen TOPMed gnomAD
rs369798614 CA4835799	4	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs369798614 CA182566603	4	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs771804248 CA4835800	5	M>I		No	ClinGen ExAC TOPMed gnomAD
CA371633791 rs1469218384	5	M>V		No	ClinGen TOPMed
rs746483356 CA4835802	9	N>H		No	ClinGen ExAC gnomAD
rs770268158 CA4835803	9	N>K		No	ClinGen ExAC gnomAD
CA371633867 rs1463046788	9	N>S		No	ClinGen TOPMed
CA4835804 rs773752617	10	P>S		No	ClinGen ExAC gnomAD
CA4835805 rs763306761	11	D>H		No	ClinGen ExAC gnomAD
CA4835806 rs771331385	11	D>V		No	ClinGen ExAC gnomAD
CA371633922 rs1586122430	12	N>K		No	ClinGen Ensembl
CA4835807 rs531203653	12	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA371633979 rs1447888490	16	E>A		No	ClinGen TOPMed
CA371633993 rs1390102772	17	T>A		No	ClinGen gnomAD
TCGA novel	21	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371634078 rs1422266147	22	Q>*		No	ClinGen gnomAD
CA371634080 rs374540163	22	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4835810 rs374540163	22	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4835811 rs149094412	23	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA371634091 rs1319194772	24	V>I		No	ClinGen gnomAD
rs1190094138 CA371635120	25	P>R		No	ClinGen TOPMed gnomAD
rs1475593650 CA371635115	25	P>S		No	ClinGen gnomAD
CA182575134 rs773394170	28	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA182575143 rs910991799	29	D>G		No	ClinGen Ensembl
CA182575138 rs986486988	29	D>H		No	ClinGen TOPMed
rs373403840 CA4835827	30	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4835828 rs142400258	31	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1356658878 CA371635263	33	H>R		No	ClinGen gnomAD
CA182575167 rs963709767	36	E>A		No	ClinGen TOPMed
CA371635338 rs1327098942	37	V>A		No	ClinGen TOPMed
rs776528395 CA4835830	37	V>I		No	ClinGen ExAC gnomAD
CA182575191 rs991630748	39	R>*		No	ClinGen TOPMed
rs761862300 CA4835831	39	R>Q	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	40	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs3134253 CA4835833 VAR_037035	42	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs758251127 CA4835834	44	A>T		No	ClinGen ExAC gnomAD
CA371635387 rs1282696082	45	L>F		No	ClinGen TOPMed
rs766215478 CA4835835	46	N>S		No	ClinGen ExAC gnomAD
rs1586126169 CA371635401	47	A>V		No	ClinGen Ensembl
CA4835836 rs751224801	50	L>V		No	ClinGen ExAC gnomAD
rs1232205585 CA371635424	51	E>G		No	ClinGen gnomAD
rs774270409 CA4835838	52	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA371635428 rs774270409	52	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1320418334 CA371635442	54	F>S		No	ClinGen TOPMed
TCGA novel	59	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA182575255 rs938512752	59	L>R		No	ClinGen Ensembl
TCGA novel	60	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1421870829 CA371635490	61	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs543023582 CA182575298	63	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs543023582 CA4835844	63	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs775796517 CA4835845	64	G>D		No	ClinGen ExAC gnomAD
rs1437197171 CA371635509	65	H>N		No	ClinGen TOPMed gnomAD
CA4835846 rs149431013	66	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA371635515 rs149431013	66	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs768741309 CA4835848	66	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4835847 rs768741309	66	R>L		No	ClinGen ExAC gnomAD
rs940010734 CA182575322	69	V>I		No	ClinGen TOPMed gnomAD
VAR_037036 rs13272825 CA4835850	70	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs898727661 CA182575351	71	C>R		No	ClinGen TOPMed
rs773291851 CA4835852	72	L>*		No	ClinGen ExAC gnomAD
rs762913618 CA4835853	73	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4835854 rs766307601	74	K>E		No	ClinGen ExAC gnomAD
rs1262489537 CA371635565	74	K>R		No	ClinGen TOPMed
rs1243900525 CA371635584	77	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA371635595 rs1487652776	78	K>R		No	ClinGen gnomAD
CA371635600 rs1321239865	79	L>V		No	ClinGen TOPMed
rs143025416 CA4835856	80	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1254085932 CA371635616	82	V>L		No	ClinGen gnomAD
CA4835857 rs759281100	83	L>V		No	ClinGen ExAC TOPMed gnomAD
CA182575390 rs955517671	84	S>C		No	ClinGen gnomAD
CA182575395 rs955517671	84	S>F		No	ClinGen gnomAD
rs201707246 CA182575399	86	A>V		No	ClinGen 1000Genomes
CA371635654 rs1367963355	88	D>V		No	ClinGen TOPMed
rs755636177 CA4835860	89	G>A		No	ClinGen ExAC gnomAD
CA371635665 rs1290017881	90	E>A		No	ClinGen TOPMed
rs753328868 CA4835880	92	R>S		No	ClinGen ExAC gnomAD
CA371635691 rs1294159659	92	R>T		No	ClinGen TOPMed gnomAD
CA371635713 rs758946959	95	N>S		No	ClinGen ExAC gnomAD
CA4835881 rs758946959	95	N>T		No	ClinGen ExAC gnomAD
CA4835882 rs780424597	96	L>V		No	ClinGen ExAC TOPMed gnomAD
rs920026512 CA182575752	97	T>A		No	ClinGen gnomAD
rs752015905 CA4835883	98	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA4835885 rs781549097	99	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs755309968 CA4835884	99	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1188111947 CA371635740	100	N>S		No	ClinGen TOPMed gnomAD
rs748408774 CA4835886	101	C>R		No	ClinGen ExAC TOPMed gnomAD
rs770091405 CA4835887	102	I>M		No	ClinGen ExAC gnomAD
rs1166949567 CA371635752	102	I>V		No	ClinGen gnomAD
rs778048907 CA4835888	103	R>C		No	ClinGen ExAC TOPMed gnomAD
rs778048907 CA371635758	103	R>G		No	ClinGen ExAC TOPMed gnomAD
rs372518680 CA4835889	103	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4835890 rs771058066	104	T>I		No	ClinGen ExAC gnomAD
rs1246411075 CA371635766	105	I>L		No	ClinGen TOPMed
CA4835892 rs745753981	106	Q>K		No	ClinGen ExAC gnomAD
CA4835893 rs373378051	106	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA371635778 rs373378051	106	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA182575855 rs144660563	108	H>Y		No	ClinGen ESP
CA4835895 rs183706608	109	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA4835896 rs763709416	110	G>A		No	ClinGen ExAC gnomAD
CA182575876 rs954159923	110	G>C		No	ClinGen TOPMed
TCGA novel	112	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761301834 CA4835898	113	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4835899 rs536797299	113	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1472223517 CA371635833	114	G>V		No	ClinGen gnomAD
CA371635843 rs1259078062	116	C>G		No	ClinGen gnomAD
rs755468577 CA4835901	117	T>I		No	ClinGen ExAC TOPMed
rs376638763 CA4835903	118	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374390026 CA4835904	118	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs199708023 CA182575926	119	F>L		No	ClinGen 1000Genomes gnomAD
CA182575934 rs201585324	121	G>R		No	ClinGen 1000Genomes
TCGA novel	122	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs61744470 CA182575940	123	S>F		No	ClinGen Ensembl
rs749435725 CA4835906	125	F>L		No	ClinGen ExAC TOPMed gnomAD
CA182575965 rs1011747605	126	T>I		No	ClinGen TOPMed
TCGA novel	126	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747774061 CA4835934	127	V>A		No	ClinGen ExAC TOPMed gnomAD
CA371636231 rs1335125791	128	G>A		No	ClinGen gnomAD
CA4835935 rs769462302	129	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1410292888 CA371636248	130	D>G		No	ClinGen TOPMed gnomAD
rs772637995 CA4835936	131	K>T		No	ClinGen ExAC gnomAD
rs1252528565 CA371636268	133	V>M		No	ClinGen gnomAD
rs776153682 CA4835940	136	W>G		No	ClinGen ExAC gnomAD
CA182579987 rs866897207	137	K>R		No	ClinGen Ensembl
TCGA novel	138	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1475695161 CA371636312	138	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA182580002 rs902490860	139	D>G		No	ClinGen Ensembl
CA371636333 rs1431515917	141	P>L		No	ClinGen TOPMed
rs764577285 CA4835942	141	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1371713259 CA371636337	142	G>D		No	ClinGen gnomAD
CA4835944 rs185916745	143	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA182580016 rs185916745	143	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4835945 rs765496368	144	G>R		No	ClinGen ExAC gnomAD
rs1311821083 CA371636352	145	D>H		No	ClinGen gnomAD
rs1311821083 CA371636351	145	D>N		No	ClinGen gnomAD
rs374721908 CA4835947	146	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1340762253 CA371636378	148	E>A		No	ClinGen TOPMed gnomAD
CA4835949 rs751526681	148	E>K		No	ClinGen ExAC gnomAD
rs1216675675 CA371636382	149	P>T		No	ClinGen gnomAD
CA4835951 rs781010399	150	L>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1017084556 CA182580077	151	H>R		No	ClinGen TOPMed
rs747943082 CA4835952	151	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	152	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371636407 rs1210068101	153	I>V		No	ClinGen gnomAD
CA182580114 rs200175003	154	L>*		No	ClinGen 1000Genomes gnomAD
CA182580088 rs200175003	154	L>S		No	ClinGen 1000Genomes gnomAD
CA371636428 rs1272949135	156	K>R		No	ClinGen gnomAD
rs1388275583 CA371636442	157	T>S		No	ClinGen TOPMed
CA371636449 rs1396160432	158	V>L		No	ClinGen gnomAD
CA371636448 rs1396160432	158	V>M		No	ClinGen gnomAD
rs755950053 CA4835971	159	Y>C		No	ClinGen ExAC gnomAD
CA371636455 rs1563503957	159	Y>H		No	ClinGen Ensembl
rs777363133 CA4835972	160	T>A		No	ClinGen ExAC gnomAD
CA371636483 rs1344089273	163	D>G		No	ClinGen gnomAD
rs748993515 CA4835973	165	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	168	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371636545 rs756947557 CA4835974	171	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	174	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778609059 CA4835975	176	Q>E		No	ClinGen ExAC gnomAD
CA4835976 rs145609503	177	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA371636584 rs1373160050	177	Q>H		No	ClinGen gnomAD
rs769347024 CA4835977	177	Q>P		No	ClinGen ExAC gnomAD
rs748540892 CA4835979	178	V>A		No	ClinGen ExAC TOPMed gnomAD
CA4835978 rs568236562	178	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs148884091 CA4835980	179	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773396420 CA4835981	179	D>V		No	ClinGen ExAC gnomAD
rs763209111 CA4835982	183	E>A		No	ClinGen ExAC TOPMed gnomAD
rs763209111 CA4835983	183	E>G		No	ClinGen ExAC TOPMed gnomAD
CA182580974 rs763209111	183	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1269885376 CA371636626	184	Q>*		No	ClinGen TOPMed
CA371636635 rs1210830995	185	R>T		No	ClinGen TOPMed
CA371636651 rs1480568442	187	N>K		No	ClinGen TOPMed
CA4835985 rs759596988	189	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA371636660 rs1303957114	189	I>V		No	ClinGen TOPMed gnomAD
rs143548999 CA4835986	190	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs143548999 CA182581002	190	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA371636673 rs1175974439	191	S>A		No	ClinGen gnomAD
rs763998434 CA4835989	192	M>V		No	ClinGen ExAC TOPMed gnomAD
CA4835990 rs753548168	194	W>S		No	ClinGen ExAC TOPMed gnomAD
CA182581013 rs553648361	195	G>R		No	ClinGen 1000Genomes TOPMed
rs1391763127 CA371636713	197	D>H		No	ClinGen gnomAD
rs914273621 CA182581018	198	S>N		No	ClinGen TOPMed gnomAD
rs539676623 CA4835991	199	I>V		No	ClinGen ExAC TOPMed gnomAD
CA371636736 rs1396400280	200	S>N		No	ClinGen gnomAD
CA371636749 rs1369814068	202	V>I		No	ClinGen TOPMed
CA371636758 COSM1094481 rs1306092286	203	K>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA371636764 rs1278817898	204	F>L		No	ClinGen TOPMed gnomAD
rs778698939 CA4835992	207	I>V		No	ClinGen ExAC gnomAD
CA371636895 rs1373712970	209	T>A		No	ClinGen gnomAD
CA4836021 rs750999874	210	F>L		No	ClinGen ExAC gnomAD
TCGA novel	210	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756707427 CA4836022	211	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA371636941 rs1245914555	216	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1428849144 CA371636951	217	S>C		No	ClinGen gnomAD
rs1231265462 CA371636963	219	R>K		No	ClinGen gnomAD
CA371636977 rs1278769779	221	I>V		No	ClinGen gnomAD
rs201771178 CA182583601	222	V>A		No	ClinGen 1000Genomes
CA182583600 rs898405494	222	V>I		No	ClinGen TOPMed
CA371636990 rs1346558796	223	L>R		No	ClinGen gnomAD
rs374654375 CA4836028	225	D>G		No	ClinGen ESP ExAC gnomAD
CA4836027 rs746138680	225	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA182583641 rs200980273	228	Q>*		No	ClinGen 1000Genomes
rs906379696 CA182583646	229	A>G		No	ClinGen gnomAD
rs775707351 CA4836029	230	T>A		No	ClinGen ExAC gnomAD
CA182583651 rs749835638	231	P>S		No	ClinGen TOPMed gnomAD
CA182583656 rs1002889739	233	K>E		No	ClinGen gnomAD
CA182584880 rs915234538	235	V>F		No	ClinGen TOPMed
CA371637102 rs1272377833	238	D>G		No	ClinGen gnomAD
rs1468705618 CA371637108	239	M>V		No	ClinGen TOPMed gnomAD
CA371637126 rs1317680154	241	T>R		No	ClinGen gnomAD
rs1563505380 CA371637128	242	N>H		No	ClinGen Ensembl
rs946950356 CA182584887	243	T>I		No	ClinGen Ensembl
rs372714335 CA371637143	244	I>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs372714335 CA182584927	244	I>T		No	ClinGen ESP TOPMed gnomAD
rs999376459 CA182584921	244	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs746228451 CA4836049	246	W>R		No	ClinGen ExAC gnomAD
rs772398473 CA4836050	247	N>T		No	ClinGen ExAC gnomAD
rs137959121 CA4836052	248	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4836053 COSM1496760 rs768651600	249	M>V	kidney Variant assessed as Somatic; 0.0002369 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA371637200 rs776808717	252	F>C		No	ClinGen ExAC TOPMed gnomAD
CA4836054 rs776808717	252	F>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	254	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761894129 CA4836055	255	T>A		No	ClinGen ExAC TOPMed gnomAD
rs200340920 CA4836056	255	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA371637228 rs1391290973	257	A>T		No	ClinGen gnomAD
CA371637239 rs1308177043	258	N>S		No	ClinGen gnomAD
rs1351785577 CA371637254	260	D>G		No	ClinGen gnomAD
CA371637270 rs566111711	262	N>I		No	ClinGen 1000Genomes gnomAD
CA182584970 rs566111711	262	N>T		No	ClinGen 1000Genomes gnomAD
rs1020624562 CA182586914	264	Y>C		No	ClinGen TOPMed
rs748230776 CA4836073	264	Y>H		No	ClinGen ExAC gnomAD
rs769906575 CA4836074	266	F>S		No	ClinGen ExAC TOPMed gnomAD
rs773293726 CA4836075	267	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1376764377 CA371637324	268	M>I		No	ClinGen Ensembl
rs1364647691 CA371637319	268	M>V		No	ClinGen gnomAD
rs749180359 CA4836076	269	R>C		No	ClinGen ExAC TOPMed gnomAD
rs142463527 CA4836077	269	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs868133848 CA182586930	270	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA371637349 rs1230391514	273	T>A		No	ClinGen TOPMed
CA4836078 rs774146109	274	P>A		No	ClinGen ExAC TOPMed gnomAD
CA182586956 rs144632227 COSM1755492	276	M>I	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP TOPMed
CA371637383 rs767153044	278	H>P		No	ClinGen ExAC TOPMed gnomAD
CA4836080 rs767153044	278	H>R		No	ClinGen ExAC TOPMed gnomAD
CA371637392 rs1586133565	279	M>I		No	ClinGen Ensembl
CA4836081 rs775039881	279	M>V		No	ClinGen ExAC TOPMed gnomAD
CA371637408 rs1467276182	281	H>L		No	ClinGen gnomAD
rs1384016341 CA371637413	282	V>I		No	ClinGen gnomAD
CA182586965 rs927142210	283	S>T		No	ClinGen TOPMed
rs1299516737 CA371637448	288	V>M		No	ClinGen gnomAD
CA4836084 rs750926513	289	D>V		No	ClinGen ExAC gnomAD
rs138536020 CA182586980	291	S>A		No	ClinGen ESP TOPMed
rs758893088 CA4836085	293	T>I		No	ClinGen ExAC gnomAD
CA371637498 rs1388532573	295	K>N		No	ClinGen gnomAD
TCGA novel	297	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371637517 rs1229785925	298	V>L		No	ClinGen Ensembl
CA4836086 rs766706100	299	S>A		No	ClinGen ExAC gnomAD
rs751926148 CA4836087	300	A>P		No	ClinGen ExAC TOPMed gnomAD
rs751926148 CA371637526	300	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	301	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141131174 CA4836089	303	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371637547 rs1209794872	303	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1209794872 CA371637549	303	D>Y		No	ClinGen gnomAD
CA371637569 rs1453180772	306	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs201949129 CA4836091	307	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA371637576 COSM1203058 rs1425272025	307	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs150914726 CA4836092	308	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA182587034 rs753542545	308	I>V		No	ClinGen TOPMed gnomAD
rs770879623 CA4836094	311	V>A		No	ClinGen ExAC gnomAD
CA371637600 rs1362913570	311	V>I		No	ClinGen gnomAD
rs774081250 CA4836095	315	R>*		No	ClinGen ExAC gnomAD
rs542850604 CA4836096	315	R>Q		No	ClinGen ExAC gnomAD
rs1290407925 CA371637656	318	E>Q		No	ClinGen gnomAD
rs757199454 CA4836113	319	V>I		No	ClinGen ExAC gnomAD
TCGA novel	323	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	324	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4836116 rs374177027	327	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs779779163 CA4836117	329	I>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	330	C>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4836121 rs768327742	334	T>P		No	ClinGen ExAC
CA371637800 rs1183937028	338	K>E		No	ClinGen TOPMed gnomAD
CA371637803 rs1448531151	338	K>R		No	ClinGen TOPMed
rs776075764 CA4836122	339	Y>C		No	ClinGen ExAC gnomAD
rs761369421 CA4836123	340	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4836124 CA371637827 rs200528280	341	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	342	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371637871 rs774923967 CA4836126	347	M>I		No	ClinGen ExAC gnomAD
rs1370069107 CA371637882	349	I>F		No	ClinGen gnomAD
rs978385936 CA182589879 COSM3412622	350	R>C	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA182589882 COSM200293 rs761547809	350	R>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA371637894 rs1309912889	351	L>P		No	ClinGen gnomAD
CA371637901 rs1419065893	352	W>*		No	ClinGen TOPMed
CA371637938 rs1378545665	357	S>F		No	ClinGen TOPMed
rs1586135565 CA371637942	358	E>A		No	ClinGen Ensembl
rs1411281601 CA371637958	360	L>S		No	ClinGen gnomAD
CA4836130 rs753088008	361	G>V		No	ClinGen ExAC gnomAD
rs375018347 CA4836151	366	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4836152 rs764300108	366	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	369	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1206523817 CA371638024	369	A>S		No	ClinGen TOPMed
CA4836155 rs765410014	371	K>E		No	ClinGen ExAC gnomAD
TCGA novel	371	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs924457710 CA182590918	372	D>H		No	ClinGen TOPMed
rs373812134 CA182590928	373	Y>C		No	ClinGen ESP TOPMed gnomAD
rs1057329310 CA182590997	378	K>*		No	ClinGen TOPMed gnomAD
CA182590999 rs895886402	378	K>N		No	ClinGen TOPMed gnomAD
CA371638099 rs1427586995	379	E>D		No	ClinGen gnomAD
CA182591000 rs377242970	380	K>T		No	ClinGen Ensembl
CA182591012 rs917905128	381	F>C		No	ClinGen TOPMed
rs1455811003 CA371638108	381	F>L		No	ClinGen gnomAD
rs758400351 CA4836158	381	F>L		No	ClinGen ExAC gnomAD
rs766294351 CA4836159	384	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1437910394 CA371638141	385	P>L		No	ClinGen gnomAD
rs754803356 CA4836161	386	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1476405602 CA371638149	387	I>L		No	ClinGen TOPMed
rs888457873 CA182591069	387	I>T		No	ClinGen TOPMed
CA371638151 rs1476405602	387	I>V		No	ClinGen TOPMed
rs560959426 CA182591071	389	R>C		No	ClinGen TOPMed
CA4836163 rs147296877	389	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4836164 rs755698556	390	I>T		No	ClinGen ExAC TOPMed gnomAD
rs777465353 CA4836165	392	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs759718195 CA4836166	392	R>H		No	ClinGen ExAC TOPMed gnomAD
rs759718195 CA371638181	392	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1466033297 CA371638192	394	R>*	Variant assessed as Somatic; 9.276e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA371638195 rs1431199702	394	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs770508219 CA4836167	395	H>R		No	ClinGen ExAC gnomAD
TCGA novel	398	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747433025 CA182591139	400	I>M		No	ClinGen ExAC TOPMed gnomAD
CA4836168 rs369578505	400	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4836172 rs144723655	401	Y>C		No	ClinGen ESP ExAC gnomAD
rs776835973 CA4836171	401	Y>H		No	ClinGen ExAC gnomAD
rs374265201 CA182591162	402	S>N		No	ClinGen ESP TOPMed
CA371638258 rs887288006	404	I>S		No	ClinGen TOPMed gnomAD
rs887288006 CA182591164	404	I>T		No	ClinGen TOPMed gnomAD
CA4836173 rs765438024	405	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs763038882 CA4836175	408	R>C		No	ClinGen ExAC TOPMed gnomAD
CA182591190 rs763038882	408	R>G		No	ClinGen ExAC TOPMed gnomAD
rs766382243 CA4836176	408	R>H	Variant assessed as Somatic; 4.629e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1586136317 CA371638298	410	M>I		No	ClinGen Ensembl
CA4836177 rs751532727	410	M>T		No	ClinGen ExAC TOPMed gnomAD
CA4836178 rs765503657	412	E>K		No	ClinGen ExAC TOPMed gnomAD
rs202190823 CA371638320	413	A>D		No	ClinGen gnomAD
CA182591214 rs202190823	413	A>V		No	ClinGen gnomAD
rs1954 CA4836179	414	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754852689 CA182591222	414	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA4836180 rs752405404	415	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4836181 rs139907413 COSM290449	416	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs760550577 CA4836201	419	V>M		No	ClinGen ExAC gnomAD
CA4836203 rs763941283	421	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1094484 rs756945539 CA4836204	421	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs756945539 CA4836205	421	R>L		No	ClinGen ExAC gnomAD
rs763941283 CA4836202	421	R>S		No	ClinGen ExAC TOPMed gnomAD
CA371638385 rs1488415983	423	K>Q		No	ClinGen gnomAD
CA4836207 rs755563560	425	S>C		No	ClinGen ExAC TOPMed gnomAD
CA4836209 rs748625915	428	G>R		No	ClinGen ExAC
CA4836210 rs770179674	428	G>V		No	ClinGen ExAC gnomAD
CA4836211 rs371185840	429	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs749564756 CA4836212	430	V>A		No	ClinGen ExAC gnomAD
CA4836215 rs774558109	436	K>M		No	ClinGen ExAC gnomAD
CA4836216 rs759522627	436	K>N		No	ClinGen ExAC TOPMed gnomAD
rs894317169 CA182592387	438	K>R		No	ClinGen TOPMed gnomAD
CA371638491 rs1468499833	439	H>R		No	ClinGen TOPMed
rs144319160 CA4836218 COSM1094485	440	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1563508181 CA371638504	441	V>A		No	ClinGen Ensembl
CA371638506 rs760640368	442	A>P		No	ClinGen ExAC TOPMed gnomAD
rs760640368 CA4836219	442	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4836221 rs76530805	443	V>G		No	ClinGen ExAC gnomAD
CA371638511 rs1255573541	443	V>I		No	ClinGen gnomAD
rs763601552	446	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q9NV06

6 regional properties for Q9NV06

Type	Name	Position	InterPro Accession
repeat	WD40 repeat	55 - 137	IPR001680-1
repeat	WD40 repeat	185 - 225	IPR001680-2
repeat	WD40 repeat	271 - 362	IPR001680-3
domain	Sof1-like protein	354 - 440	IPR007287
domain	Translation initiation factor, beta propellor-like domain	199 - 307	IPR013979
conserved_site	WD40 repeat, conserved site	82 - 96	IPR019775

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleolus	In the nucleolus, localizes predominantly in the granular component, but also detected in the fibrillar center and dense fibrillar component
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
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.
Cul4-RING E3 ubiquitin ligase complex	A ubiquitin ligase complex in which a cullin from the Cul4 family and a RING domain protein form the catalytic core; substrate specificity is conferred by an adaptor protein.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
small-subunit processome	A large ribonucleoprotein complex that is an early preribosomal complex. In S. cerevisiae, it has a size of 80S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins.

2 GO annotations of molecular function

Name	Definition
nuclear estrogen receptor binding	Binding to a nuclear estrogen receptor.
RNA binding	Binding to an RNA molecule or a portion thereof.

2 GO annotations of biological process

Name	Definition
maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Any process involved in the maturation of a precursor Small SubUnit (SSU) ribosomal RNA (rRNA) molecule into a mature SSU-rRNA molecule from the pre-rRNA molecule originally produced as a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, 5.8S rRNA, and the Large Subunit (LSU) in that order from 5' to 3' along the primary transcript.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P33750	SOF1	Protein SOF1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q5ZLK1	DCAF13	DDB1- and CUL4-associated factor 13	Gallus gallus (Chicken)	PR

10	20	30	40	50	60
MKVKMLSRNP	DNYVRETKLD	LQRVPRNYDP	ALHPFEVPRE	YIRALNATKL	ERVFAKPFLA
70	80	90	100	110	120
SLDGHRDGVN	CLAKHPEKLA	TVLSGACDGE	VRIWNLTQRN	CIRTIQAHEG	FVRGICTRFC
130	140	150	160	170	180
GTSFFTVGDD	KTVKQWKMDG	PGYGDEEEPL	HTILGKTVYT	GIDHHWKEAV	FATCGQQVDI
190	200	210	220	230	240
WDEQRTNPIC	SMTWGFDSIS	SVKFNPIETF	LLGSCASDRN	IVLYDMRQAT	PLKKVILDMR
250	260	270	280	290	300
TNTICWNPME	AFIFTAANED	YNLYTFDMRA	LDTPVMVHMD	HVSAVLDVDY	SPTGKEFVSA
310	320	330	340	350	360
SFDKSIRIFP	VDKSRSREVY	HTKRMQHVIC	VKWTSDSKYI	MCGSDEMNIR	LWKANASEKL
370	380	390	400	410	420
GVLTSREKAA	KDYNQKLKEK	FQHYPHIKRI	ARHRHLPKSI	YSQIQEQRIM	KEARRRKEVN
430	440
RIKHSKPGSV	PLVSEKKKHV	VAVVK