AiPD: Autoinhibited Protein Database

Q9BV38

Gene name	WDR18
Protein name	WD repeat-containing protein 18
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57418
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

296-404 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

296-404 (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

5 structures for Q9BV38

Entry ID	Method	Resolution	Chain	Position	Source
7UWF	EM	270 A	A/B	1-432	PDB
8FL2	EM	267 A	NV/NW	1-432	PDB
8FL3	EM	253 A	NV/NW	1-432	PDB
8FL4	EM	289 A	NV/NW	1-432	PDB
AF-Q9BV38-F1	Predicted				AlphaFoldDB

432 variants for Q9BV38

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA402937441 rs767676623	3	A>P		No	ClinGen ExAC TOPMed gnomAD
CA9029501 rs767676623	3	A>T		No	ClinGen ExAC TOPMed gnomAD
CA402937452 rs1475794451	4	P>L		No	ClinGen gnomAD
rs376723627 CA9029502	4	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA9029504 rs756267474	5	M>L		No	ClinGen ExAC TOPMed gnomAD
CA402937457 rs1471359548	5	M>R		No	ClinGen gnomAD
rs756267474 CA9029503	5	M>V		No	ClinGen ExAC TOPMed gnomAD
CA9029506 rs531751106	6	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs201892004 CA9029505	6	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1300235749 CA402937979	7	V>A		No	ClinGen TOPMed
CA402937980 rs1300235749	7	V>G		No	ClinGen TOPMed
rs550149186 CA9029507	8	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs771884115 CA9029509	10	C>F		No	ClinGen ExAC TOPMed gnomAD
CA402938024 rs1250631352	11	T>M		No	ClinGen gnomAD
CA402938035 rs1292599917	12	D>Y		No	ClinGen gnomAD
CA402938046 rs1240900377	13	S>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402938066 rs1350179439	14	A>V		No	ClinGen TOPMed gnomAD
rs1282492984 CA402938077	15	A>D		No	ClinGen gnomAD
rs568734778 CA9029514	16	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402938120 rs1440108389	18	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA402938124 rs1440108389	18	W>C		No	ClinGen TOPMed gnomAD
CA9029516 rs774719221	19	S>G		No	ClinGen ExAC gnomAD
CA402938140 rs1363614073	20	C>Y		No	ClinGen gnomAD
CA402938161 rs1568383209	21	I>M		No	ClinGen Ensembl
rs767834523 CA9029518	21	I>T		No	ClinGen ExAC gnomAD
CA9029517 rs535799653	21	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA402938173 rs1269326501	22	V>A		No	ClinGen TOPMed
CA402938167 rs1396285333	22	V>L		No	ClinGen gnomAD
CA9029519 rs750704310	26	H>N		No	ClinGen ExAC gnomAD
rs750704310 CA402938246	26	H>Y		No	ClinGen ExAC gnomAD
CA9029520 rs756288183	28	G>A		No	ClinGen ExAC TOPMed gnomAD
rs753803817 CA9029523	31	L>M		No	ClinGen ExAC TOPMed gnomAD
CA402938359 rs1305900729	31	L>R		No	ClinGen gnomAD
CA402938383 rs1408675571	33	T>A		No	ClinGen TOPMed
CA9029526 rs758320517	34	Y>C		No	ClinGen ExAC gnomAD
CA9029525 rs748069476	34	Y>H		No	ClinGen ExAC TOPMed
rs773182059 CA402938418	35	R>C		No	ClinGen TOPMed
rs773182059 CA303964104	35	R>S		No	ClinGen TOPMed
CA9029528 rs746741070	38	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA9029527 rs777694620	38	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1007384406 CA303964117	41	P>S		No	ClinGen TOPMed
CA9029530 rs776215977	42	R>C		No	ClinGen ExAC gnomAD
rs565644753 CA9029531	42	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375733070 CA402938622	45	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1172438759 CA402938615	45	A>P		No	ClinGen gnomAD
CA9029533 rs375733070	45	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA303964155 rs908541346	48	N>S		No	ClinGen gnomAD
CA402938650 rs1319722879	48	N>Y		No	ClinGen TOPMed
CA402938686 rs1232869992	50	E>D		No	ClinGen TOPMed
CA402938677 rs1395769283	50	E>K		No	ClinGen TOPMed gnomAD
CA9029534 rs557836888	53	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402938729 rs1327730540	54	A>V		No	ClinGen gnomAD
CA402938738 rs1440488689	55	A>E		No	ClinGen gnomAD
CA402938771 rs1354074677	58	G>S		No	ClinGen TOPMed
rs766466325 CA9029538	59	K>E		No	ClinGen ExAC
rs1228703101 CA402938807	60	N>S		No	ClinGen gnomAD
rs752736376 CA9029542	62	I>N		No	ClinGen ExAC
rs61732720 CA9029541	62	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777710863 CA9029544	64	A>S		No	ClinGen ExAC gnomAD
rs777710863 CA402938862	64	A>T		No	ClinGen ExAC gnomAD
rs751251734 CA9029545	65	W>*		No	ClinGen ExAC
rs1429770077 CA402938921	68	Q>*		No	ClinGen gnomAD
rs780668097 CA9029547	68	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA402938935 rs1464038279	69	R>Q		No	ClinGen gnomAD
rs745502549 CA9029548	69	R>W		No	ClinGen ExAC gnomAD
TCGA novel	73	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9029570 rs778186930	75	Q>E		No	ClinGen ExAC gnomAD
CA402939192 rs747532381	76	K>R		No	ClinGen ExAC TOPMed gnomAD
CA9029571 rs747532381	76	K>T		No	ClinGen ExAC TOPMed gnomAD
CA303965565 rs1043846698	78	M>L		No	ClinGen Ensembl
CA9029572 rs146394094	78	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1212478314 CA402939292	81	G>A		No	ClinGen gnomAD
rs1212478314 CA402939290	81	G>E		No	ClinGen gnomAD
CA9029573 CA402939283 rs777046847	81	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1258117699 CA402939314	82	P>R		No	ClinGen TOPMed gnomAD
CA303965571 rs867282628	82	P>T		No	ClinGen Ensembl
rs770081215 CA9029575	84	T>S		No	ClinGen ExAC TOPMed gnomAD
rs775730973 CA9029576	87	T>I		No	ClinGen ExAC gnomAD
CA402939425 rs1419842968	88	A>E		No	ClinGen gnomAD
CA303965599 rs1035012752	88	A>T		No	ClinGen Ensembl
CA402939432 rs1419842968	88	A>V		No	ClinGen gnomAD
rs1378773710 CA402939468	90	P>S		No	ClinGen gnomAD
CA402939488 rs1313613635	91	N>H		No	ClinGen gnomAD
CA9029578 rs372124665	91	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA402939527 rs1300215956	92	G>A		No	ClinGen gnomAD
CA402939515 rs1446508007	92	G>C		No	ClinGen gnomAD
CA402939522 rs1300215956	92	G>D		No	ClinGen gnomAD
rs1300215956 CA402939525	92	G>V		No	ClinGen gnomAD
CA9029579 rs376429473	94	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA402939548 rs1347834080	94	Y>H		No	ClinGen gnomAD
CA402939564 rs761796670	95	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9029580 rs761796670	95	V>L		No	ClinGen ExAC TOPMed gnomAD
CA402939578 rs1235818561	96	L>P		No	ClinGen TOPMed gnomAD
CA402939587 rs767222068	97	A>G		No	ClinGen ExAC gnomAD
CA9029581 rs767222068	97	A>V		No	ClinGen ExAC gnomAD
CA9029582 rs750161697	99	V>I		No	ClinGen ExAC gnomAD
CA402939676 rs1326482829	102	S>G		No	ClinGen gnomAD
CA402939720 rs1373188687	104	H>R		No	ClinGen gnomAD
rs755787490 CA9029583	106	W>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	108	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1599446091 CA402941937	109	S>F		No	ClinGen Ensembl
rs781748795 CA402941964	111	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs781748795 CA9029608	111	G>W		No	ClinGen ExAC gnomAD
CA9029609 rs565644795	113	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9029613 rs750563170	118	S>N		No	ClinGen ExAC gnomAD
CA402942075 rs1328363530	118	S>R		No	ClinGen TOPMed
rs774318099 CA9029614	119	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9029615 rs758643065	119	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9029616 rs772015758	121	Y>C		No	ClinGen ExAC gnomAD
CA9029618 rs760596218	123	D>E		No	ClinGen ExAC TOPMed gnomAD
rs776347906 CA303970076	124	V>F		No	ClinGen ExAC TOPMed gnomAD
CA9029620 rs776347906	124	V>I		No	ClinGen ExAC TOPMed gnomAD
CA9029621 rs776347906	124	V>L		No	ClinGen ExAC TOPMed gnomAD
CA402942182 rs1420389045	127	L>I		No	ClinGen gnomAD
rs764890884 CA9029622	128	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA402942227 rs1232675581	130	T>A		No	ClinGen TOPMed
CA303970106 rs866846057	130	T>I		No	ClinGen Ensembl
CA402942231 rs866846057	130	T>K		No	ClinGen Ensembl
CA9029626 rs551141167	132	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762562537 CA9029624	132	D>G		No	ClinGen ExAC gnomAD
CA402942267 rs1345289221	133	S>N		No	ClinGen TOPMed gnomAD
CA402942268 rs1345289221	133	S>T		No	ClinGen TOPMed gnomAD
CA402942278 rs1399251644	134	S>G		No	ClinGen gnomAD
rs756685556 CA9029627	134	S>N		No	ClinGen ExAC gnomAD
CA402942286 rs1273698029	134	S>R		No	ClinGen TOPMed
rs776372157 CA303970155	137	I>T		No	ClinGen TOPMed
TCGA novel	139	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA303970161 rs947129373	139	G>V		No	ClinGen Ensembl
rs1283417945 CA402942367	140	G>D		No	ClinGen gnomAD
rs1442707027 CA402942401	143	C>R		No	ClinGen TOPMed
rs1225705152 CA402942440	147	V>I		No	ClinGen gnomAD
CA303970165 rs868435666	149	S>I		No	ClinGen Ensembl
rs369953265 CA9029630	150	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs369953265 CA9029631	150	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs779237414 CA9029632	151	C>F		No	ClinGen ExAC
CA303970456 rs888630471	153	V>L		No	ClinGen TOPMed gnomAD
CA303970454 rs888630471	153	V>M		No	ClinGen TOPMed gnomAD
CA9029669 rs369218093	156	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs117300378 CA9029673	157	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757374909 CA9029671	157	D>N		No	ClinGen ExAC TOPMed gnomAD
CA402942793 rs757374909	157	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA303970471 rs865936937	160	R>K		No	ClinGen gnomAD
rs145378454 CA9029675	161	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs542090038 CA303970493	162	P>L		No	ClinGen 1000Genomes gnomAD
rs182683521 CA9029677	163	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402943068 CA402943071 rs774196977	166	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA9029679 rs530665937	167	V>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1277896604 CA402943083	167	V>I		No	ClinGen TOPMed gnomAD
CA9029680 rs771682931	168	W>C		No	ClinGen ExAC gnomAD
rs1274649120 CA402943160	169	S>C		No	ClinGen TOPMed gnomAD
rs1274649120 CA402943164	169	S>F		No	ClinGen TOPMed gnomAD
CA9029681 rs372638575	170	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA9029682 rs372638575	170	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1430176881 CA402943227	171	H>L		No	ClinGen gnomAD
rs775950378 CA9029684	171	H>Y		No	ClinGen ExAC gnomAD
CA402943239 rs2158367	172	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_031577 rs2158367 CA9029686	172	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1476713013 CA402943247	172	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs567097580 CA9029688	176	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1005889556 CA303970523	177	D>E		No	ClinGen TOPMed
CA402943362 rs1324632176	177	D>N		No	ClinGen TOPMed
CA402943426 rs1387246577	178	L>R		No	ClinGen gnomAD
rs1339168526 CA402943497	181	G>D		No	ClinGen gnomAD
rs756099558 CA9029691	181	G>S		No	ClinGen ExAC TOPMed gnomAD
rs749216553 CA9029693	185	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1321897505 CA402943591	185	P>T		No	ClinGen gnomAD
rs1235500487	186	L>W	Variant assessed as Somatic; 8.643e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA402943621 rs1216780836	187	A>G		No	ClinGen TOPMed gnomAD
CA303970525 rs375653259	187	A>T		No	ClinGen ESP TOPMed gnomAD
rs1487293090 CA402943637	188	R>Q		No	ClinGen gnomAD
CA9029694 rs754880204	188	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA402943666 rs1189748504	189	V>M		No	ClinGen gnomAD
TCGA novel	190	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402943724 rs1256617648	191	T>S		No	ClinGen gnomAD
rs371577977 CA9029696	197	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA402943849 rs371577977	197	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs777369456 CA303970531	198	V>L		No	ClinGen ExAC TOPMed gnomAD
rs777369456 CA9029698	198	V>M		No	ClinGen ExAC TOPMed gnomAD
CA402943867 rs969723527	199	K>E		No	ClinGen TOPMed
CA402943886 rs1359152532	199	K>N		No	ClinGen gnomAD
CA303970533 rs969723527	199	K>Q		No	ClinGen TOPMed
rs777608087 CA9029733	200	L>P		No	ClinGen ExAC gnomAD
CA9029735 rs756869301	202	E>D		No	ClinGen ExAC gnomAD
CA402945177 rs751239701	202	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9029734 rs751239701	202	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs911345389 CA402945191	203	V>F		No	ClinGen TOPMed
CA303970835 rs911345389	203	V>I		No	ClinGen TOPMed
CA9029738 rs371153319	204	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA9029739 rs371153319	204	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1256377388 CA402945217	205	S>L		No	ClinGen gnomAD
rs1398950665 CA402945232	207	E>K		No	ClinGen TOPMed
CA402945234 rs1398950665	207	E>Q		No	ClinGen TOPMed
TCGA novel	207	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772384123 CA9029742	210	L>F		No	ClinGen ExAC gnomAD
CA402945266 rs772384123	210	L>V		No	ClinGen ExAC gnomAD
rs771225849 CA9029745	212	V>I		No	ClinGen ExAC TOPMed gnomAD
VAR_031578 CA9029747 rs35068100	213	L>F		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1323590520 CA402945333	216	V>M		No	ClinGen gnomAD
rs1433761355 CA402945351	217	S>C		No	ClinGen gnomAD
rs1299948472 CA402945357	218	I>V		No	ClinGen gnomAD
CA303970909 rs757477821	219	M>V		No	ClinGen Ensembl
CA303970912 rs920938156	221	V>L		No	ClinGen TOPMed gnomAD
rs762945774 CA9029750	222	T>I		No	ClinGen ExAC gnomAD
CA402945422 rs1358681585	223	M>I		No	ClinGen TOPMed gnomAD
rs1276109544 CA402945416	223	M>T		No	ClinGen gnomAD
rs763804343 CA9029751	223	M>V		No	ClinGen ExAC gnomAD
CA402945454 rs1229111135	226	A>S		No	ClinGen gnomAD
CA303970916 rs905665896	228	H>Q		No	ClinGen TOPMed
rs756926202 CA9029753	229	H>Q		No	ClinGen ExAC
rs751312640 CA9029752	229	H>R		No	ClinGen ExAC TOPMed gnomAD
CA303970917 rs1051472146	229	H>Y		No	ClinGen TOPMed
rs1218960068 CA402945563	234	G>C		No	ClinGen gnomAD
CA9029756 rs570003378	234	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs570003378 CA9029757	234	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA9029758 rs779533775	235	S>N		No	ClinGen ExAC gnomAD
CA402945592 rs1191903726	235	S>R		No	ClinGen gnomAD
rs1599447046 CA402945595	236	E>K		No	ClinGen Ensembl
rs150140459 CA9029759	239	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402945674 rs1473536831	241	Q>E		No	ClinGen gnomAD
rs138607077 CA9029761	243	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs138607077 CA9029760	243	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs113727633 CA303970948	244	L>P		No	ClinGen Ensembl
CA402945741 rs113727633	244	L>R		No	ClinGen Ensembl
CA402945771 rs1599447066	246	T>A		No	ClinGen Ensembl
CA9029763 rs771387325	247	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1412698002 CA402945784	247	W>G		No	ClinGen gnomAD
rs747355133 CA402945790	247	W>L		No	ClinGen ExAC gnomAD
CA9029762 rs747355133	247	W>S		No	ClinGen ExAC gnomAD
rs771858007	248	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs760340953 CA9029795	249	G>R		No	ClinGen ExAC TOPMed gnomAD
CA402945931 rs1438531416	250	Q>R		No	ClinGen gnomAD
rs950003010 CA303970996	252	E>K		No	ClinGen gnomAD
CA402945953 rs950003010	252	E>Q		No	ClinGen gnomAD
CA9029796 rs143299760	253	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402946000 rs1472013804	255	F>Y		No	ClinGen gnomAD
CA402946023 rs1435422239	256	H>P		No	ClinGen TOPMed
CA402946036 rs1171731934	257	P>S		No	ClinGen gnomAD
rs1403653810 CA402946059	259	Q>E		No	ClinGen gnomAD
CA402946092 rs1332281507	261	A>D		No	ClinGen gnomAD
rs753398889 CA9029797	261	A>T		No	ClinGen ExAC TOPMed gnomAD
CA402946102 rs1263403341	262	G>E		No	ClinGen TOPMed
CA9029798 rs759131506	262	G>R		No	ClinGen ExAC TOPMed gnomAD
CA402946123 rs372763762	263	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA402946116 rs1218364474	263	K>R		No	ClinGen TOPMed
CA9029800 rs11538683 VAR_031579	264	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA303971016 rs11538683	264	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402946164 rs1273368383	267	G>R		No	ClinGen gnomAD
rs1258281916 CA402946203	269	R>K		No	ClinGen gnomAD
rs1242414979 CA402946345	270	N>D		No	ClinGen TOPMed
rs1340035618 CA402946357	270	N>K		No	ClinGen TOPMed
rs1398225813 CA402946373	271	Q>R		No	ClinGen gnomAD
rs1314407562 CA402946385	272	V>M		No	ClinGen TOPMed gnomAD
rs778985723 CA9029840	276	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1217248861 CA402946483	278	S>A		No	ClinGen gnomAD
TCGA novel	278	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1330818903 CA402946489	278	S>F		No	ClinGen TOPMed
TCGA novel	280	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402946518 rs1484761171	281	G>R		No	ClinGen gnomAD
CA9029842 rs758439112	281	G>V		No	ClinGen ExAC gnomAD
rs746903821 CA9029844	283	V>M		No	ClinGen ExAC gnomAD
CA402946595 rs1426489278	287	G>S		No	ClinGen TOPMed
rs776227306 CA9029846	288	S>F		No	ClinGen ExAC TOPMed gnomAD
rs867319301 CA303971198	289	H>N		No	ClinGen Ensembl
rs1016900924 CA303971210	290	D>E		No	ClinGen TOPMed gnomAD
CA9029850 rs775172395	290	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1312193262 CA402946656	291	E>A		No	ClinGen gnomAD
rs139755702 CA9029851	292	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9029853 rs773915100	294	R>G		No	ClinGen ExAC gnomAD
CA9029854 rs567748339	294	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA303971220 rs563026050	297	D>E		No	ClinGen TOPMed gnomAD
CA9029856 rs754101003	297	D>G		No	ClinGen ExAC TOPMed gnomAD
rs766780040 CA9029855	297	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs142023318 CA402946747	298	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9029857 rs142023318	298	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402946758 rs868734921	299	Q>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA303971235 rs868734921	299	Q>K		No	ClinGen gnomAD
rs1178149704 CA402946777	300	S>N		No	ClinGen TOPMed gnomAD
CA9029858 rs765481402	300	S>R		No	ClinGen ExAC gnomAD
CA402946795 rs1177165408	301	K>N		No	ClinGen TOPMed gnomAD
COSM1326049 rs374262222 CA9029859	302	Q>E	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1334265451 CA402946812	303	C>G		No	ClinGen gnomAD
rs777821951 CA9029861	303	C>Y		No	ClinGen ExAC gnomAD
rs1447683010 CA402946842	305	R>Q		No	ClinGen TOPMed
CA9029863 rs571766621	306	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781065170 CA9029864	309	L>I		No	ClinGen ExAC TOPMed gnomAD
CA9029865 rs745612585	309	L>R		No	ClinGen ExAC TOPMed gnomAD
rs769682488 CA9029866	310	K>N		No	ClinGen ExAC
CA402946903 rs1165404891	311	G>R		No	ClinGen TOPMed
rs1161953193 CA402946947	312	P>S		No	ClinGen gnomAD
CA402946957 rs1287449261	313	V>I		No	ClinGen gnomAD
CA402946958 rs1287449261	313	V>L		No	ClinGen gnomAD
CA402946976 rs1599448521	314	T>I		No	ClinGen Ensembl
CA9029900 rs767624129	314	T>P		No	ClinGen ExAC TOPMed gnomAD
rs756049306 CA9029902	316	A>V		No	ClinGen ExAC TOPMed gnomAD
rs368807410 CA402947005	317	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs368807410 CA9029903	317	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs754788186 CA9029905	318	I>T		No	ClinGen ExAC gnomAD
TCGA novel	319	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA303971610 rs572456565	321	A>E		No	ClinGen 1000Genomes TOPMed gnomAD
CA402947049 rs1314393478	321	A>T		No	ClinGen gnomAD
rs572456565 CA402947053	321	A>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs746384097 CA9029910	322	P>T		No	ClinGen ExAC gnomAD
CA402947070 rs1223907584	323	V>L		No	ClinGen TOPMed
CA402947106 rs1203899171	325	M>I		No	ClinGen TOPMed gnomAD
CA402947095 rs1443718996	325	M>L		No	ClinGen gnomAD
rs769043484 CA9029914	326	L>M		No	ClinGen ExAC gnomAD
rs774497105 CA303971632	327	S>R		No	ClinGen ExAC TOPMed gnomAD
rs762090674 CA9029916	328	S>*		No	ClinGen ExAC gnomAD
CA402947134 rs1368130503	328	S>T		No	ClinGen gnomAD
CA303971633 rs999228396	329	D>E		No	ClinGen TOPMed gnomAD
CA402947167 CA9029917 rs767500029	330	F>L		No	ClinGen ExAC TOPMed gnomAD
CA402947163 rs1469580633	330	F>S		No	ClinGen TOPMed gnomAD
rs773375669 CA9029918	331	R>K		No	ClinGen ExAC TOPMed gnomAD
CA402947176 rs773375669	331	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1349660230 CA402947193	332	P>L		No	ClinGen gnomAD
rs1470189787 CA402947185	332	P>T		No	ClinGen gnomAD
rs753802378 CA9029921	335	P>L		No	ClinGen ExAC TOPMed gnomAD
CA402947228 rs753802378	335	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1332167522 CA402947223	335	P>S		No	ClinGen gnomAD
CA9029924 rs752293037	337	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9029926 rs777174602	338	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA303971715 rs558609019	339	F>L		No	ClinGen 1000Genomes
CA402947288 rs1321005987	340	N>S		No	ClinGen gnomAD
CA402947297 rs1250634432	341	K>Q		No	ClinGen gnomAD
rs752995371 CA303971721	342	H>Q		No	ClinGen TOPMed
CA9029928 rs756731690	346	A>T		No	ClinGen ExAC gnomAD
rs780591136 CA9029929	347	E>*		No	ClinGen ExAC
CA402947386 rs1194419775	348	H>Q		No	ClinGen TOPMed gnomAD
CA402947392 rs1249445990	349	G>R		No	ClinGen TOPMed
rs749783693 CA9029931	349	G>V		No	ClinGen ExAC gnomAD
rs1427413444 CA402947414	350	D>E		No	ClinGen gnomAD
TCGA novel	350	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9029932 rs768970328	351	E>K		No	ClinGen ExAC gnomAD
CA402947434 rs748332581	352	P>A		No	ClinGen ExAC TOPMed gnomAD
rs772296441 CA9029935	352	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9029934 rs748332581	352	P>S		No	ClinGen ExAC TOPMed gnomAD
CA402947446 rs1326083067	353	R>H		No	ClinGen gnomAD
CA402947469 CA9029937 rs760885483	355	G>R		No	ClinGen ExAC gnomAD
rs1281794066 CA402947483	356	G>D		No	ClinGen gnomAD
CA9029939 rs776774058	360	R>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	360	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1338171708 CA402947525	360	R>P		No	ClinGen gnomAD
CA303971760 rs772725002	361	L>M		No	ClinGen Ensembl
CA402947550 rs1490502317	363	L>F		No	ClinGen gnomAD
CA402947567 rs1198364088	364	H>R		No	ClinGen gnomAD
CA402948943 rs201195680	367	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201195680 CA9029956	367	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9029957 rs759410596	368	S>L		No	ClinGen ExAC TOPMed gnomAD
CA9029958 rs759410596	368	S>W		No	ClinGen ExAC TOPMed gnomAD
rs942952716 CA303973251	369	E>A		No	ClinGen TOPMed gnomAD
CA402949000 rs1599450049	370	P>A		No	ClinGen Ensembl
rs1220793420 CA402949062	372	Y>C		No	ClinGen TOPMed
rs868046777 CA303973253	373	L>M		No	ClinGen Ensembl
CA402949079 rs1239434560	373	L>P		No	ClinGen gnomAD
rs762859652 CA9029960	375	R>C		No	ClinGen ExAC gnomAD
rs762859652 CA402949104	375	R>G		No	ClinGen ExAC gnomAD
rs374385418 CA9029961	375	R>H		No	ClinGen ESP ExAC TOPMed
rs374385418 CA402949112	375	R>L		No	ClinGen ESP ExAC TOPMed
rs374385418 CA402949109	375	R>P		No	ClinGen ESP ExAC TOPMed
rs762859652 CA303973256	375	R>S		No	ClinGen ExAC gnomAD
rs751281256 CA402949120	376	T>A		No	ClinGen ExAC gnomAD
CA402949127 rs200473226	376	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200473226 CA9029965	376	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200473226 CA9029964	376	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751281256 CA9029963	376	T>S		No	ClinGen ExAC gnomAD
TCGA novel	379	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402949191 rs1318978745	379	L>P		No	ClinGen TOPMed
CA9029967 rs201670654	381	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758863930 CA9029970	382	V>A		No	ClinGen ExAC TOPMed gnomAD
rs758863930 CA303973339	382	V>D		No	ClinGen ExAC TOPMed gnomAD
CA9029968 rs779520543	382	V>I		No	ClinGen ExAC TOPMed gnomAD
CA9029969 rs779520543	382	V>L		No	ClinGen ExAC TOPMed gnomAD
rs778212697 CA9029971	383	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1338266942 CA402949262	383	L>P		No	ClinGen gnomAD
CA303973352 rs867620915	384	C>F		No	ClinGen gnomAD
CA402949272 rs1406412987	384	C>G		No	ClinGen gnomAD
rs1406412987 CA402949268	384	C>S		No	ClinGen gnomAD
CA402949274 rs867620915	384	C>Y		No	ClinGen gnomAD
rs139898299 CA9029972	385	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1391897750 CA402949311	386	T>A		No	ClinGen gnomAD
rs867565587 CA303973353	386	T>N		No	ClinGen Ensembl
CA402949329 rs781450245	387	M>L		No	ClinGen ExAC TOPMed gnomAD
CA402949340 rs1234389079	387	M>T		No	ClinGen gnomAD
CA9029974 rs781450245	387	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	388	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	388	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	388	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402949515 rs1223730737	391	V>E		No	ClinGen gnomAD
rs544068612 CA9030004	391	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA402949551 rs1218435774	393	G>S		No	ClinGen gnomAD
rs373779863 CA9030008	394	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402949607 rs1243093620	395	Q>H		No	ClinGen TOPMed
CA402949601 rs1185371893	395	Q>R		No	ClinGen gnomAD
CA402949610 rs1387789208	396	D>N		No	ClinGen gnomAD
rs376924638 CA303973518	399	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA402949684 rs756233263	399	R>H		No	ClinGen ExAC gnomAD
rs756233263 CA9030011	399	R>L		No	ClinGen ExAC gnomAD
CA9030012 rs780206349	400	V>I		No	ClinGen ExAC TOPMed gnomAD
rs147799042 CA9030013	401	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030014 rs139413493	401	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9030015 rs200235925	402	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1287401958 CA402949764	403	T>M		No	ClinGen gnomAD
CA9030018 rs772821975	407	D>G		No	ClinGen ExAC TOPMed gnomAD
rs771857922 CA9030017	407	D>N		No	ClinGen ExAC TOPMed gnomAD
CA9030020 rs372604451	408	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1214628671 CA402949889	409	V>M		No	ClinGen gnomAD
rs776312449 CA9030021	410	R>C		No	ClinGen ExAC TOPMed gnomAD
rs145021245 CA9030022	410	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA402949947 rs888424166 CA402949949	411	N>K		No	ClinGen TOPMed gnomAD
CA402949966 rs764828776	413	R>C		No	ClinGen ExAC TOPMed gnomAD
CA303973566 rs1006580076	413	R>H		No	ClinGen TOPMed gnomAD
CA9030023 rs764828776	413	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1233460325 CA402950011	415	I>V		No	ClinGen TOPMed
rs775069805 CA402950033	416	N>I		No	ClinGen ExAC TOPMed gnomAD
rs775069805 CA9030024	416	N>S		No	ClinGen ExAC TOPMed gnomAD
CA9030028 rs756391986	417	R>Q		No	ClinGen ExAC
CA9030026 rs767939373	417	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1381155340 CA402950084	420	F>Y		No	ClinGen gnomAD
CA9030030 rs146879042	421	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778897782 CA9030032	423	S>A		No	ClinGen ExAC gnomAD
rs752643839 CA9030033	423	S>F		No	ClinGen ExAC gnomAD
CA402950140 rs1325268393	424	T>M		No	ClinGen gnomAD
CA303973638 rs375540536	425	R>C		No	ClinGen gnomAD
rs147575145 CA9030034	425	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	426	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	427	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9030035 rs545042099	428	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402950176 rs371794912	429	R>L		No	ClinGen ESP TOPMed gnomAD
rs371794912 CA303973653	429	R>Q		No	ClinGen ESP TOPMed gnomAD
rs1469407612 CA402950174	429	R>W		No	ClinGen TOPMed gnomAD
rs746817635 CA9030036	430	P>L		No	ClinGen ExAC gnomAD
CA402950201 rs1400158731	432	K>R		No	ClinGen gnomAD

No associated diseases with Q9BV38

9 regional properties for Q9BV38

Type	Name	Position	InterPro Accession
repeat	WD40 repeat	70 - 107	IPR001680-1
repeat	WD40 repeat	110 - 150	IPR001680-2
repeat	WD40 repeat	161 - 211	IPR001680-3
repeat	WD40 repeat	258 - 306	IPR001680-4
conserved_site	WD40 repeat, conserved site	284 - 298	IPR019775
repeat	G-protein beta WD-40 repeat	136 - 150	IPR020472-1
repeat	G-protein beta WD-40 repeat	189 - 203	IPR020472-2
repeat	G-protein beta WD-40 repeat	284 - 298	IPR020472-3
domain	WD repeat-containing protein 18, C-terminal domain	383 - 430	IPR026987

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleolus Nucleus, nucleoplasm Cytoplasm Dynein axonemal particle	Mainly found in the nucleoplasm, with low levels detected in the cytoplasmic and chromatin fractions
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
dynein axonemal particle	An aggregation of axonemal dyneins, their specific assembly factors, and broadly-acting chaperones that is located in the cytoplasm.
nuclear pre-replicative complex	A protein-DNA complex assembled at eukaryotic DNA replication origins during late mitosis and G1, allowing the origin to become competent, or 'licensed', for replication. The complex normally includes the origin recognition complex (ORC), Cdc6, Cdt1 and the MiniChromosome Maintenance (Mcm2-7) proteins.
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.
Rix1 complex	A protein complex that comprises Rix1p, Ipi1p and Ipi3p, and is required for processing of ITS2 sequences from 35S pre-rRNA. The Rix1 complex has been identified in budding yeast and fission yeast, and members of this complex are conserved in higher eukaryotes.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

2 GO annotations of biological process

Name	Definition
DNA-templated DNA replication	A DNA replication process that uses parental DNA as a template for the DNA-dependent DNA polymerases that synthesize the new strands.
rRNA processing	Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q4VBE8	Wdr18	WD repeat-containing protein 18	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAAPMEVAVC	TDSAAPMWSC	IVWELHSGAN	LLTYRGGQAG	PRGLALLNGE	YLLAAQLGKN
70	80	90	100	110	120
YISAWELQRK	DQLQQKIMCP	GPVTCLTASP	NGLYVLAGVA	ESIHLWEVST	GNLLVILSRH
130	140	150	160	170	180
YQDVSCLQFT	GDSSHFISGG	KDCLVLVWSL	CSVLQADPSR	IPAPRHVWSH	HALPITDLHC
190	200	210	220	230	240
GFGGPLARVA	TSSLDQTVKL	WEVSSGELLL	SVLFDVSIMA	VTMDLAEHHM	FCGGSEGSIF
250	260	270	280	290	300
QVDLFTWPGQ	RERSFHPEQD	AGKVFKGHRN	QVTCLSVSTD	GSVLLSGSHD	ETVRLWDVQS
310	320	330	340	350	360
KQCIRTVALK	GPVTNAAILL	APVSMLSSDF	RPSLPLPHFN	KHLLGAEHGD	EPRHGGLTLR
370	380	390	400	410	420
LGLHQQGSEP	SYLDRTEQLQ	AVLCSTMEKS	VLGGQDQLRV	RVTELEDEVR	NLRKINRDLF
430
DFSTRFITRP	AK