AiPD: Autoinhibited Protein Database

Q9Y2X3

Gene name	NOP58
Protein name	Nucleolar protein 58
Names	Nucleolar protein 5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51602
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

467-529 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

467-529 (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 Q9Y2X3

Entry ID	Method	Resolution	Chain	Position	Source
7MQ8	EM	360 A	SB	1-529	PDB
7MQ9	EM	387 A	SB	1-529	PDB
7MQA	EM	270 A	SB	1-529	PDB
AF-Q9Y2X3-F1	Predicted				AlphaFoldDB

347 variants for Q9Y2X3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA350340152 rs1220640900	2	L>S		No	ClinGen gnomAD
CA2060358 rs756006471	3	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1015032964 CA64000074	9	V>L		No	ClinGen TOPMed
CA64000078 rs867641451	12	A>T		No	ClinGen Ensembl
rs779991794 CA350340293	13	I>M		No	ClinGen ExAC
rs370710550 CA64000107	15	K>N		No	ClinGen ESP TOPMed
CA2060360 rs753609540	15	K>R		No	ClinGen ExAC
CA64000094 rs753609540	15	K>T		No	ClinGen ExAC
CA350340937 rs1211796485	16	V>A		No	ClinGen gnomAD
rs1243811173 CA350340948	18	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	20	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2060389 rs757481909	20	K>R		No	ClinGen ExAC gnomAD
rs1210348959 CA350340976	22	L>V		No	ClinGen gnomAD
rs1218834327 CA350341006	26	D>G		No	ClinGen gnomAD
CA2060391 rs371448365	26	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1559260086 CA350341013	27	S>T		No	ClinGen Ensembl
CA350341021 rs1464725175	28	L>S		No	ClinGen gnomAD
CA2060392 rs770210825	29	W>G		No	ClinGen ExAC
rs1423409650 CA350341044	31	E>A		No	ClinGen gnomAD
rs1358155887 CA350341049	32	F>L		No	ClinGen TOPMed
rs1341040174 CA350341114	40	K>N		No	ClinGen TOPMed
rs149937193 CA2060395	41	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs988706680 CA64009478	44	L>V		No	ClinGen TOPMed gnomAD
rs1296355790 CA350341187	49	K>R		No	ClinGen gnomAD
CA2060459 rs753024202	52	D>H		No	ClinGen ExAC TOPMed gnomAD
CA350341207 rs753024202	52	D>N		No	ClinGen ExAC TOPMed gnomAD
rs753024202 CA350341208	52	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs375767116 CA2060460	54	A>T		No	ClinGen ESP ExAC TOPMed
CA350341629 rs1325554590	60	F>V		No	ClinGen TOPMed
rs1466287767 CA350341652	62	A>P		No	ClinGen TOPMed
CA350341654 rs1466287767	62	A>S		No	ClinGen TOPMed
rs1168011505 CA350341690	65	E>K		No	ClinGen TOPMed
CA350342023 rs1397841343	66	G>S		No	ClinGen gnomAD
CA350342064 rs1427873769	71	Q>R		No	ClinGen TOPMed
rs751851360 CA2060505	73	K>T		No	ClinGen ExAC gnomAD
rs1347591484 CA350342088	75	V>I		No	ClinGen gnomAD
rs766126376 CA2060507	78	K>N		No	ClinGen ExAC gnomAD
rs1425847253 CA350342114	79	I>L		No	ClinGen TOPMed
rs753604348 CA2060508	80	V>I		No	ClinGen ExAC gnomAD
CA2060510 rs778525161	82	E>A		No	ClinGen ExAC gnomAD
rs1216567894 CA350342134	82	E>Q		No	ClinGen gnomAD
CA350342150 rs1452091083	84	H>P		No	ClinGen TOPMed
CA350342155 rs1340052690	85	E>K		No	ClinGen gnomAD
CA64013422 rs758245380	86	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2060512 rs758245380	86	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA2060511 rs146248124	86	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs770766603 CA2060515	88	A>V		No	ClinGen ExAC TOPMed gnomAD
CA64013448 rs937406947	89	V>I		No	ClinGen Ensembl
CA2060517 rs746021508	92	A>T		No	ClinGen ExAC gnomAD
rs770036351 CA2060518	92	A>V		No	ClinGen ExAC gnomAD
rs775386759 CA2060519	95	G>R		No	ClinGen ExAC gnomAD
rs1161947556 CA350342221	96	G>V		No	ClinGen gnomAD
CA2060521 rs180787368	97	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350342224 rs1221427602	97	V>F		No	ClinGen TOPMed
TCGA novel	98	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762259529 CA2060523	99	K>R		No	ClinGen ExAC gnomAD
rs764788350 CA2060552	100	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	104	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs944135186 CA64015250	106	C>S		No	ClinGen Ensembl
TCGA novel	107	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762525171 CA2060554	107	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1267157317 CA350342314	108	H>R		No	ClinGen TOPMed
rs1241227726 CA350342326	110	P>T		No	ClinGen gnomAD
rs1344516212 CA350342348	113	N>S		No	ClinGen gnomAD
rs757140358 CA2060557	115	L>F		No	ClinGen ExAC gnomAD
rs767494240 CA2060558	116	M>T		No	ClinGen ExAC gnomAD
rs750188563 CA2060559	120	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs755969953 CA2060560 COSM1404565	120	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1236841351 CA350342400	121	S>L		No	ClinGen gnomAD
CA350342423 rs780129624	124	D>A		No	ClinGen ExAC gnomAD
rs780129624 CA2060561	124	D>G		No	ClinGen ExAC gnomAD
CA2060564 rs371228045	129	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA64015351 rs371228045	129	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs748284167 CA2060565	130	V>I		No	ClinGen ExAC gnomAD
rs147837954 CA2060566	132	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2060568 rs747360206	133	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1404566 CA2060569 rs771268418	133	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA350342484 rs1307714248	134	E>V		No	ClinGen gnomAD
CA350342496 rs1330796807	136	A>T		No	ClinGen gnomAD
rs776863966 CA2060570	136	A>V		No	ClinGen ExAC gnomAD
CA350342505 rs1574382138	137	A>G		No	ClinGen Ensembl
rs1265429798 CA350342503	137	A>T		No	ClinGen gnomAD
rs762624341 CA350342507	138	M>L		No	ClinGen ExAC TOPMed gnomAD
rs762624341 CA2060571	138	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1188098716 CA350342518	139	C>Y		No	ClinGen TOPMed
rs868850085 CA64015431	143	A>T		No	ClinGen Ensembl
rs1422043645 CA350342587	148	R>*		No	ClinGen TOPMed
CA2060589 rs768325613	148	R>P		No	ClinGen ExAC gnomAD
CA2060590 rs774057376	150	R>S		No	ClinGen ExAC gnomAD
CA350342617 rs761299636	152	K>N		No	ClinGen ExAC gnomAD
rs1574383780 CA350342629	154	S>G		No	ClinGen Ensembl
CA64017972 rs771800135	155	A>T		No	ClinGen TOPMed gnomAD
rs772717404 CA2060593	155	A>V		No	ClinGen ExAC gnomAD
CA350342662 rs1366500959	159	D>H		No	ClinGen gnomAD
rs1287537668 CA350342673	160	T>R		No	ClinGen gnomAD
CA350342680 rs1333533090	161	M>R		No	ClinGen Ensembl
CA350342676 rs1364485725	161	M>V		No	ClinGen gnomAD
TCGA novel	165	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350342717 rs1215484470	166	I>V		No	ClinGen gnomAD
CA2060619 rs752570636	171	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs764458432 CA2060621	173	D>G		No	ClinGen ExAC gnomAD
rs1164545810 CA350343114	175	E>Q		No	ClinGen TOPMed
CA350343126 rs1243638426	177	N>H		No	ClinGen gnomAD
rs1429446267 CA350343147	178	N>K		No	ClinGen TOPMed
rs751629825 CA2060622	178	N>S		No	ClinGen ExAC gnomAD
rs757348573 CA2060623	179	Y>C		No	ClinGen ExAC gnomAD
CA350343177 rs1175872067	180	I>M		No	ClinGen gnomAD
rs1401504495 CA350343165	180	I>V		No	ClinGen gnomAD
rs905619490 CA64019937	181	M>V		No	ClinGen TOPMed
CA64019941 rs866120577	182	R>*		No	ClinGen TOPMed
CA350343253 rs1471135448	186	W>G		No	ClinGen gnomAD
CA350343276 rs1195511921	187	Y>C		No	ClinGen TOPMed
rs930171677 CA64019942	189	W>*		No	ClinGen Ensembl
CA2060626 rs756621903	190	H>D		No	ClinGen ExAC gnomAD
rs1376733136 CA350343322	190	H>Q		No	ClinGen gnomAD
rs1048600368 CA64019954	192	P>L		No	ClinGen Ensembl
TCGA novel	192	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1265960667 CA350343374	195	G>E		No	ClinGen gnomAD
rs540613762 CA350343391	196	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA64019970 rs775991061	196	K>R		No	ClinGen Ensembl
rs777837460 CA2060632	204	Y>*		No	ClinGen ExAC gnomAD
rs201294363 CA2060633	206	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776205969 CA2060634	207	C>W		No	ClinGen ExAC gnomAD
rs745751519 CA2060635	208	L>S		No	ClinGen ExAC gnomAD
CA350343567 rs947801696	209	Q>H		No	ClinGen TOPMed gnomAD
CA350343564 rs1209210388	209	Q>R		No	ClinGen gnomAD
rs1190856867 CA350343582	210	K>N		No	ClinGen gnomAD
CA350343571 rs1305008177	210	K>Q		No	ClinGen TOPMed
rs575291968 CA350343934	213	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575291968 CA2060652	213	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2060653 rs575291968	213	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1057323565 CA64020455	216	N>S		No	ClinGen TOPMed
rs775636914 CA2060654	217	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA2060655 rs749084060	218	A>S		No	ClinGen ExAC TOPMed gnomAD
rs749084060 CA350343969	218	A>T		No	ClinGen ExAC TOPMed gnomAD
rs768513128 CA2060656	221	K>R		No	ClinGen ExAC TOPMed gnomAD
CA2060657 rs774201451	223	S>C		No	ClinGen ExAC gnomAD
rs1319543502 CA350344030	227	P>L		No	ClinGen gnomAD
CA2060660 rs147158311	228	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2060661 rs147158311	228	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767808004 CA2060659	228	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	229	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA64020501 rs910171236	230	V>A		No	ClinGen TOPMed gnomAD
rs910171236 CA64020494	230	V>D		No	ClinGen TOPMed gnomAD
CA350344044 rs1361916315	230	V>I		No	ClinGen gnomAD
CA350344059 rs1223475565	232	A>G		No	ClinGen gnomAD
CA64020507 rs969627061	232	A>T		No	ClinGen Ensembl
rs1261241572 CA350344110	240	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	241	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2060664 rs755475439	242	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1422533806 CA350344132	243	G>*		No	ClinGen TOPMed
CA2060666 rs753127514	245	E>D		No	ClinGen ExAC gnomAD
CA350344149 rs1162447302	246	V>I		No	ClinGen gnomAD
rs1426212263 CA350344160	247	S>L		No	ClinGen gnomAD
rs1383718336 CA350344181	250	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA350344195 rs1032540121	252	C>S		No	ClinGen TOPMed gnomAD
CA64020559 rs1032540121	252	C>Y		No	ClinGen TOPMed gnomAD
CA64020571 rs928122369	253	N>S		No	ClinGen gnomAD
CA350344214 rs1451789719	255	L>V		No	ClinGen gnomAD
CA2060668 rs780936221	256	H>Q		No	ClinGen ExAC gnomAD
CA350344222 rs1313072767	256	H>R		No	ClinGen gnomAD
CA64020602 rs199837599	259	T>N		No	ClinGen Ensembl
CA2060687 rs373052592	261	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2060689 rs763440974	268	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	268	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750039889 CA2060691	269	T>I		No	ClinGen ExAC TOPMed gnomAD
CA350344636 rs755833701 CA2060692	270	Q>H		No	ClinGen ExAC gnomAD
CA64021892 rs1004605013	271	L>P		No	ClinGen Ensembl
rs759136119 CA64021905	274	Y>D		No	ClinGen Ensembl
rs747894497 CA2060697	278	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA350344762 rs1297719450	279	M>I		No	ClinGen gnomAD
CA350344781 rs1559265571	280	M>I		No	ClinGen Ensembl
CA350344767 rs1394392551	280	M>V		No	ClinGen gnomAD
rs201365480 CA2060698	281	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1356290592 CA350344796	282	I>V		No	ClinGen TOPMed
rs767160033 CA2060700	285	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1227314954 CA350344860	287	T>A		No	ClinGen gnomAD
CA350344875 rs1409599265	288	V>A		No	ClinGen TOPMed
CA2060702 rs776669063	289	M>I		No	ClinGen ExAC gnomAD
CA350344903 rs1429800673	290	V>A		No	ClinGen TOPMed
rs1479390319 CA350344911	291	G>A		No	ClinGen gnomAD
rs1479390319 CA350344910	291	G>E		No	ClinGen gnomAD
CA350344945 rs1178288721	294	V>I		No	ClinGen TOPMed
CA350344985 rs1252104330	297	R>Q		No	ClinGen gnomAD
CA2060703 rs759701994	297	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2060705 rs776122040	301	H>Y		No	ClinGen ExAC gnomAD
rs1437345752 CA350345097	303	G>V		No	ClinGen gnomAD
CA350345105 rs761744999	305	L>F		No	ClinGen ExAC TOPMed
CA2060756 rs761744999	305	L>V		No	ClinGen ExAC TOPMed
rs767303512 CA2060757	306	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1254257004 CA350345139	310	K>R		No	ClinGen gnomAD
rs1483495698 CA350345146	311	H>Y		No	ClinGen gnomAD
CA2060758 rs377061185	313	A>S		No	ClinGen ESP ExAC gnomAD
CA2060759 rs150533873	316	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350345192 rs1440758372	318	I>T		No	ClinGen TOPMed
CA350345197 rs1173708850	319	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	320	G>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350345229 rs1167690713	324	A>T		No	ClinGen gnomAD
CA2060762 rs753950904	327	R>T		No	ClinGen ExAC gnomAD
CA2060763 rs755171576	328	A>V		No	ClinGen ExAC gnomAD
CA2060764 rs779151003	329	L>V		No	ClinGen ExAC TOPMed gnomAD
CA64023853 rs890880086	331	S>P		No	ClinGen TOPMed
rs748623051 CA2060765	333	R>G		No	ClinGen ExAC TOPMed gnomAD
CA350345286 rs1275369981	333	R>P		No	ClinGen TOPMed gnomAD
rs1275369981 CA350345285	333	R>Q		No	ClinGen TOPMed gnomAD
rs748623051 CA64023861	333	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2060767 rs778175222	334	D>A		No	ClinGen ExAC gnomAD
CA350345316 rs1343204520	338	Y>H		No	ClinGen gnomAD
TCGA novel	343	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2060771 rs775061251	344	A>V		No	ClinGen ExAC TOPMed gnomAD
CA64023897 rs888372036	346	L>F		No	ClinGen Ensembl
CA64023908 rs766805972	347	V>L		No	ClinGen ExAC TOPMed gnomAD
rs766805972 CA2060773	347	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1474712071 CA350345379	348	G>C		No	ClinGen gnomAD
CA2060774 rs773883767	349	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA2060775 rs761690055	350	T>A		No	ClinGen ExAC gnomAD
CA2060776 rs767406013	352	P>A		No	ClinGen ExAC gnomAD
rs961017934 CA64023931	353	K>R		No	ClinGen TOPMed
rs1162570410 CA350345422	354	H>Q		No	ClinGen gnomAD
rs1216145927 CA350346012	358	I>M		No	ClinGen gnomAD
rs1254137276 CA350346030	360	R>G		No	ClinGen gnomAD
CA350346035 rs1258406714	360	R>L		No	ClinGen TOPMed
CA2060793 TCGA novel rs781622971	361	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA2060794 rs748900199	363	A>T		No	ClinGen ExAC gnomAD
rs551442697 CA2060797	367	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2060799 rs773083380	369	A>G		No	ClinGen ExAC gnomAD
rs760678826 CA2060800	370	I>L		No	ClinGen ExAC TOPMed gnomAD
rs760678826 CA350346151	370	I>V		No	ClinGen ExAC TOPMed gnomAD
rs143734003 CA2060802	375	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA64024953 rs765128288	380	S>G		No	ClinGen gnomAD
rs765128288 CA350346276	380	S>R		No	ClinGen gnomAD
CA350346307 rs1202556893	382	A>S		No	ClinGen gnomAD
rs1406847675 CA350346313	382	A>V		No	ClinGen TOPMed gnomAD
CA2060805 rs752817833	383	M>I		No	ClinGen ExAC
COSM3720435 rs765593697 CA2060804	383	M>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1187855495 CA350346342	385	V>I		No	ClinGen gnomAD
TCGA novel	386	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA64024963 VAR_059461 rs34748654	387	N>T		No	ClinGen UniProt Ensembl dbSNP
VAR_059462 CA64024967 rs34458926	389	A>P		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs34458926 CA2060807	389	A>S		No	ClinGen ExAC TOPMed gnomAD
CA350346459 rs1326291221	394	R>G		No	ClinGen gnomAD
CA350346474 rs757812649	395	L>V		No	ClinGen ExAC gnomAD
CA2060810 rs201308876	396	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1301222182 CA350346505	397	T>S		No	ClinGen gnomAD
CA2060812 rs746281592	399	E>D		No	ClinGen ExAC gnomAD
rs35900977 CA64024988 VAR_059463	400	D>A		No	ClinGen UniProt Ensembl dbSNP
rs78469356 CA64024987	400	D>Y		No	ClinGen Ensembl
CA350346642 rs1304048428	403	I>T		No	ClinGen TOPMed
CA350346684 rs1206882254	406	I>T		No	ClinGen gnomAD
CA64025197 rs182171068	407	S>N		No	ClinGen 1000Genomes gnomAD
rs1490126140 CA350346706	408	G>R		No	ClinGen gnomAD
CA350346752 rs1574389401	411	K>N		No	ClinGen Ensembl
CA2060835 rs375922698	412	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1014050226 CA64025230	417	E>G		No	ClinGen TOPMed
rs768783326	417	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs777121611 CA2060839	417	E>K		No	ClinGen ExAC gnomAD
rs141356456 CA2060840	418	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA2060841 rs770766813	421	H>P		No	ClinGen ExAC TOPMed gnomAD
CA350346904 rs1173841573	422	K>T		No	ClinGen TOPMed
rs745811674 CA2060844	423	S>N		No	ClinGen ExAC gnomAD
CA350347899 rs1227497868	427	T>I		No	ClinGen gnomAD
CA2060866 rs138554847	428	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775967901 CA64026534	428	Y>*		No	ClinGen gnomAD
CA350347933 rs1214957066	429	D>G		No	ClinGen TOPMed
CA2060867 rs773119179	429	D>N		No	ClinGen ExAC TOPMed gnomAD
CA350347928 rs773119179	429	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA350347975 rs774262804	432	G>A		No	ClinGen ExAC gnomAD
rs774262804 CA2060869	432	G>D		No	ClinGen ExAC gnomAD
rs1418874121 CA350348019	436	L>F		No	ClinGen TOPMed gnomAD
rs1414920378 CA350348039	437	P>R		No	ClinGen TOPMed gnomAD
rs1157377155 CA350348030	437	P>T		No	ClinGen gnomAD
CA350348057 rs1225378533	439	C>R		No	ClinGen TOPMed
CA2060871 rs773315669	440	S>C		No	ClinGen ExAC TOPMed gnomAD
rs773315669 CA2060870	440	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA64026571 rs759580885	443	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2060872 rs541358227 COSM1015007	443	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	443	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	444	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350348144 rs1304243832	445	I>M		No	ClinGen gnomAD
CA350348141 rs1322454521	445	I>T		No	ClinGen gnomAD
CA350348154 rs1379432389	446	E>G		No	ClinGen gnomAD
CA2060873 rs754145906	448	V>A		No	ClinGen ExAC gnomAD
rs1365995089 CA350348193	449	D>G		No	ClinGen TOPMed
rs372739080 CA2060874	449	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
COSM331297 CA2060875 rs765531603	451	E>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1228952644 CA350348226	451	E>V		No	ClinGen TOPMed gnomAD
CA350348232 rs1277782035	452	D>N		No	ClinGen gnomAD
rs1032043493 CA64026592	453	E>G		No	ClinGen Ensembl
rs1160495412 CA350348262	454	I>L		No	ClinGen Ensembl
CA2060876 rs751155094	454	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2060877 rs757000307	455	T>I		No	ClinGen ExAC gnomAD
CA350348338 rs1180520285	459	A>D		No	ClinGen gnomAD
rs1480427112 CA350348332	459	A>T		No	ClinGen gnomAD
CA2060878 rs780800129	460	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	461	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	464	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1192528387 CA350348439	466	V>F		No	ClinGen TOPMed
CA350333598 rs1559268932	468	V>A		No	ClinGen Ensembl
CA2060895 rs771325061	469	E>K		No	ClinGen ExAC gnomAD
rs777135049 CA350333619	470	E>*		No	ClinGen ExAC TOPMed gnomAD
rs1430229216 CA350333625	470	E>G		No	ClinGen gnomAD
rs777135049 CA2060896	470	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA2060904 rs775738579	478	E>K		No	ClinGen ExAC gnomAD
rs1471477134 CA350333793	479	E>D		No	ClinGen gnomAD
CA2060905 rs761534327	480	E>D		No	ClinGen ExAC gnomAD
TCGA novel	482	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201609699 CA2060906	482	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201609699 CA350333814	482	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2060909 rs765822521	484	V>M		No	ClinGen ExAC gnomAD
rs778723374 CA2060914	486	K>E		No	ClinGen ExAC gnomAD
CA2060915 rs747990514	486	K>N		No	ClinGen ExAC gnomAD
rs939221013 CA64000038	487	K>E		No	ClinGen Ensembl
CA2060916 rs758611507	488	K>*		No	ClinGen ExAC gnomAD
rs150900848 CA2060918	490	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs987984345 CA64000051	490	R>K		No	ClinGen gnomAD
CA2060919 rs770973936	491	G>R		No	ClinGen ExAC gnomAD
CA2060921 rs746336360	495	H>R		No	ClinGen ExAC TOPMed gnomAD
CA2060920 rs776603846	495	H>Y		No	ClinGen ExAC gnomAD
rs770251906 CA2060922	496	I>S		No	ClinGen ExAC
rs763479299 CA2060924	498	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1358918171 CA350334684	499	E>A		No	ClinGen gnomAD
rs772943647 CA2060926	500	P>R		No	ClinGen ExAC TOPMed gnomAD
CA64000113 rs750739890	503	E>G		No	ClinGen Ensembl
rs200748681 CA350334706	503	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs200748681 CA2060927	503	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA350334713 rs1206322198	504	E>Q		No	ClinGen gnomAD
rs1249316977 CA350334730	506	P>A		No	ClinGen gnomAD
rs143957037 CA2060928	506	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1043137726 CA64000121	507	C>R		No	ClinGen Ensembl
CA2060929 rs34523815 COSM1015009	508	T>A	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
VAR_059464 CA64000124 rs34523815	508	T>P		No	ClinGen UniProt ExAC dbSNP gnomAD
CA64000128 rs537363977	510	T>I		No	ClinGen 1000Genomes
CA2060931 rs147411928	512	I>T		No	ClinGen ESP ExAC
CA350334772 rs1473662632	513	A>G		No	ClinGen gnomAD
rs750511449 CA2060959	514	S>N		No	ClinGen ExAC TOPMed gnomAD
CA350334793 rs1207023530	514	S>R		No	ClinGen gnomAD
CA350334800 rs1349406081	516	E>K		No	ClinGen TOPMed gnomAD
rs780293403 CA2060962	517	K>*		No	ClinGen ExAC TOPMed gnomAD
CA2060966 rs769316003	523	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1005636366 CA64000452	524	K>E		No	ClinGen TOPMed
rs769985110	525	R>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	526	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1299095439 CA350334877	526	E>Q		No	ClinGen gnomAD
CA350334892 rs770599887	528	E>*		No	ClinGen ExAC TOPMed gnomAD
rs770599887 CA2060971	528	E>K		No	ClinGen ExAC TOPMed gnomAD
rs776085683 CA2060972	529	D>N		No	ClinGen ExAC TOPMed gnomAD
CA350334900 rs776085683	529	D>Y		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9Y2X3

3 regional properties for Q9Y2X3

Type	Name	Position	InterPro Accession
domain	Nop domain	168 - 400	IPR002687
domain	Nucleolar protein 58/56, N-terminal	2 - 66	IPR012974
domain	NOSIC	161 - 213	IPR012976

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleolus Nucleus, nucleoplasm	Localizes to the nucleolus with a minor part present in the nucleoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
box C/D RNP complex	A ribonucleoprotein complex containing a box C/D type RNA that can carry out ribose-2'-O-methylation of target RNAs. Box C/D type RNAs are widespread in eukaryotes and in Archaea, suggesting that an RNA-based guide mechanism for directing specific RNA 2'-O-ribose methylations was present in the common ancestor of Archaea and Eukarya.
Cajal body	A class of nuclear body, first seen after silver staining by Ramon y Cajal in 1903, enriched in small nuclear ribonucleoproteins, and certain general RNA polymerase II transcription factors; ultrastructurally, they appear as a tangle of coiled, electron-dense threads roughly 0.5 micrometers in diameter; involved in aspects of snRNP biogenesis; the protein coilin serves as a marker for Cajal bodies. Some argue that Cajal bodies are the sites for preassembly of transcriptosomes, unitary particles involved in transcription and processing of RNA.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
fibrillar center	A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.
pre-snoRNP complex	A ribonucleoprotein complex that contains a precursor small nucleolar RNA (pre-snoRNA) and associated proteins, and forms during small nucleolar ribonucleoprotein complex (snoRNP) assembly. Pre-snoRNP complexes may contain proteins not found in the corresponding mature snoRNP complexes.
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.
sno(s)RNA-containing ribonucleoprotein complex	A ribonucleoprotein complex that contains an RNA molecule of the snoRNA family and associated proteins. Many are involved in a step of processing of rRNA molecules: cleavage, 2'-O-methylation, or pseudouridylation, but other RNA types can be targets as well. The majority fall into one of two classes, box C/D type or box H/ACA type, which are conserved across eukaryotes and archaea. Other members include the telomerase RNA and the ribonuclease MRP RNA.

4 GO annotations of molecular function

Name	Definition
ATPase binding	Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP.
RNA binding	Binding to an RNA molecule or a portion thereof.
snoRNA binding	Binding to a small nucleolar RNA.
TFIID-class transcription factor complex binding	Binding to a general RNA polymerase II transcription factor belonging to the TFIID complex, one of the factors involved in formation of the preinitiation complex (PIC) by RNA polymerase II.

2 GO annotations of biological process

Name	Definition
rRNA processing	Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules.
snoRNA localization	Any process in which small nucleolar RNA is transported to, or maintained in, a specific location.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O00567	NOP56	Nucleolar protein 56	Homo sapiens (Human)	PR
Q6DFW4	Nop58	Nucleolar protein 58	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MLVLFETSVG	YAIFKVLNEK	KLQEVDSLWK	EFETPEKANK	IVKLKHFEKF	QDTAEALAAF
70	80	90	100	110	120
TALMEGKINK	QLKKVLKKIV	KEAHEPLAVA	DAKLGGVIKE	KLNLSCIHSP	VVNELMRGIR
130	140	150	160	170	180
SQMDGLIPGV	EPREMAAMCL	GLAHSLSRYR	LKFSADKVDT	MIVQAISLLD	DLDKELNNYI
190	200	210	220	230	240
MRCREWYGWH	FPELGKIISD	NLTYCKCLQK	VGDRKNYASA	KLSELLPEEV	EAEVKAAAEI
250	260	270	280	290	300
SMGTEVSEED	ICNILHLCTQ	VIEISEYRTQ	LYEYLQNRMM	AIAPNVTVMV	GELVGARLIA
310	320	330	340	350	360
HAGSLLNLAK	HAASTVQILG	AEKALFRALK	SRRDTPKYGL	IYHASLVGQT	SPKHKGKISR
370	380	390	400	410	420
MLAAKTVLAI	RYDAFGEDSS	SAMGVENRAK	LEARLRTLED	RGIRKISGTG	KALAKTEKYE
430	440	450	460	470	480
HKSEVKTYDP	SGDSTLPTCS	KKRKIEQVDK	EDEITEKKAK	KAKIKVKVEE	EEEEKVAEEE
490	500	510	520
ETSVKKKKKR	GKKKHIKEEP	LSEEEPCTST	AIASPEKKKK	KKKKRENED