AiPD: Autoinhibited Protein Database

O43818

Gene name	RRP9
Protein name	U3 small nucleolar RNA-interacting protein 2
Names	RRP9 homolog, U3 small nucleolar ribonucleoprotein-associated 55 kDa protein, U3 snoRNP-associated 55 kDa protein, U3-55K
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9136
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-87 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-87 (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

6 structures for O43818

Entry ID	Method	Resolution	Chain	Position	Source
4J0W	X-ray	170 A	A	137-475	PDB
4JXM	X-ray	192 A	A	118-470	PDB
7MQ8	EM	360 A	SG	1-475	PDB
7MQ9	EM	387 A	SG	1-475	PDB
7MQA	EM	270 A	SG	1-475	PDB
AF-O43818-F1	Predicted				AlphaFoldDB

396 variants for O43818

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1193190091 CA353042255	2	S>*		No	ClinGen TOPMed gnomAD
rs1193190091 CA353042256	2	S>L		No	ClinGen TOPMed gnomAD
rs1368669243 CA353042262	2	S>P		No	ClinGen TOPMed
rs1193190091 CA353042258	2	S>W		No	ClinGen TOPMed gnomAD
rs1253586989 CA353042245	3	A>V		No	ClinGen TOPMed gnomAD
CA353042238 rs955845978	4	T>K		No	ClinGen TOPMed
rs1199556715 CA353042243	4	T>P		No	ClinGen gnomAD
rs955845978 CA74679981	4	T>R		No	ClinGen TOPMed
CA353042229 rs1225981129	5	A>G		No	ClinGen gnomAD
CA353042233 rs763250333	5	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2426581 rs763250333	5	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	6	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353042210 rs1229637817	7	A>G		No	ClinGen gnomAD
CA2426580 rs556392866	7	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353042215 rs556392866	7	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353042216 rs556392866	7	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1333637065 CA353042204	8	R>C		No	ClinGen gnomAD
VAR_035887 CA353042207 COSM32570 rs1333637065	8	R>G	breast a breast cancer sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt dbSNP gnomAD
rs373215221 CA2426578	8	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373215221 CA353042203	8	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA74679966 rs373215221	8	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2426577 rs776761900	9	K>R		No	ClinGen ExAC gnomAD
CA2426574 rs111654088	10	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2426575 rs111654088	10	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770873553 CA2426576	10	R>W		No	ClinGen ExAC TOPMed gnomAD
CA353042173 rs1409307413	11	G>E		No	ClinGen TOPMed
CA353042177 rs1170172847 CA353042181	11	G>R		No	ClinGen TOPMed gnomAD
rs747899468 CA353042161	12	K>M		No	ClinGen ExAC TOPMed gnomAD
rs747899468 CA2426572	12	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1366172707 CA353042154	13	P>A		No	ClinGen gnomAD
CA74679933 rs4687604	13	P>L		No	ClinGen ExAC gnomAD
CA2426571 rs4687604	13	P>Q		No	ClinGen ExAC gnomAD
CA353042150 rs4687604	13	P>R		No	ClinGen ExAC gnomAD
rs1366172707 CA353042156	13	P>S		No	ClinGen gnomAD
CA74679928 rs1023379376	14	A>T		No	ClinGen TOPMed gnomAD
CA353042139 rs1259268382	14	A>V		No	ClinGen TOPMed gnomAD
rs748763265 CA2426569	15	S>F		No	ClinGen ExAC TOPMed gnomAD
CA353042122 rs1273578574	16	G>A		No	ClinGen gnomAD
rs1354221549 CA353042115	17	A>S		No	ClinGen gnomAD
rs1247653007 CA353042113	17	A>V		No	ClinGen TOPMed
rs757804299 CA2426567	19	A>T		No	ClinGen ExAC gnomAD
CA2426566 rs751953885	20	G>D		No	ClinGen ExAC gnomAD
rs1409548620 CA353042089	20	G>S		No	ClinGen gnomAD
CA353042084 rs751953885	20	G>V		No	ClinGen ExAC gnomAD
rs375136418 CA2426564	21	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA353042077 rs1404076668	21	A>S		No	ClinGen gnomAD
CA353042080 rs1404076668	21	A>T		No	ClinGen gnomAD
CA2426565 rs375136418	21	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2426562 rs765536515	23	A>S		No	ClinGen ExAC gnomAD
TCGA novel	23	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2426559 rs766325193	24	G>A		No	ClinGen ExAC gnomAD
CA2426560 rs754007394	24	G>S		No	ClinGen ExAC gnomAD
CA353042026 rs1449788665	27	R>G		No	ClinGen gnomAD
CA353042023 rs1289064605	27	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA353042021 rs1214337882	28	R>G		No	ClinGen gnomAD
rs760662261 CA2426558	28	R>P		No	ClinGen ExAC gnomAD
rs1266431954 CA353042013	29	K>R		No	ClinGen gnomAD
CA2426539 rs767324378	30	A>V		No	ClinGen ExAC gnomAD
CA2426538 rs761698054	31	D>H		No	ClinGen ExAC gnomAD
CA353041667 rs1253761982	34	G>R		No	ClinGen TOPMed
CA353041657 rs1244034236	35	D>N		No	ClinGen gnomAD
CA2426536 rs763818006	36	R>G		No	ClinGen ExAC gnomAD
rs371755390 CA2426535	36	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2426534 rs143239259	37	G>D		No	ClinGen ESP ExAC gnomAD
rs1052839276 CA74679486	38	K>E		No	ClinGen Ensembl
CA2426533 rs769405224	39	S>A		No	ClinGen ExAC gnomAD
CA353041597 rs1244516177	39	S>C		No	ClinGen TOPMed
CA353041579 rs1577653611	41	G>S		No	ClinGen Ensembl
rs1297588041 CA353041569	41	G>V		No	ClinGen gnomAD
CA353041568 rs1213455687	42	G>S		No	ClinGen gnomAD
rs1211023269 COSM1424315 CA353041537	44	K>R	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM1176870 CA2426531 rs773811987	45	M>I	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs774248694	48	E>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs772740789 CA2426530	48	E>D		No	ClinGen ExAC TOPMed gnomAD
CA353041462 rs1559745225	49	I>F		No	ClinGen Ensembl
rs748621090 CA2426528	50	S>C		No	ClinGen ExAC gnomAD
TCGA novel	54	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2426525 rs749576558	56	E>V		No	ClinGen ExAC gnomAD
rs1418236833 CA353041343	57	S>N		No	ClinGen Ensembl
CA353041299 rs1471750949	60	P>L		No	ClinGen gnomAD
rs1190380592 CA353041301	60	P>S		No	ClinGen TOPMed gnomAD
CA2426508 rs142998158	63	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs370715673 CA2426507	66	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA353041231 rs1465744956	67	E>D		No	ClinGen Ensembl
rs1164339515 CA353041240	67	E>K		No	ClinGen gnomAD
CA74677307 rs1033671988	68	E>G		No	ClinGen TOPMed gnomAD
CA74677278 rs982220672	71	L>P		No	ClinGen gnomAD
CA353041190 rs1273305781	73	E>A		No	ClinGen gnomAD
rs1234696512 CA353041177	75	A>S		No	ClinGen gnomAD
rs749582379 CA2426501	76	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs749582379 CA353041173	76	Q>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	77	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1224325 rs1375426378 CA353041108	81	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM1046768 rs769929770 CA2426499	81	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1395258674 CA353041069	84	K>R		No	ClinGen gnomAD
CA353041005 rs1383552527	89	Q>K		No	ClinGen TOPMed
TCGA novel	89	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1016079988 CA74677229	90	L>F		No	ClinGen TOPMed
CA74677227 rs1026377994	91	R>C		No	ClinGen gnomAD
CA2426496 COSM259083 rs374405922	91	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA353040955 rs1421307887	93	Q>E		No	ClinGen gnomAD
rs781379799 CA2426479	94	E>G		No	ClinGen ExAC TOPMed gnomAD
CA2426478 rs771048637	95	E>K		No	ClinGen ExAC gnomAD
CA2426476 rs777793041	98	A>D		No	ClinGen ExAC gnomAD
CA2426477 rs747062056	98	A>T		No	ClinGen ExAC TOPMed gnomAD
rs752626674 CA2426474	101	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2426473 rs778581448	101	R>H		No	ClinGen ExAC gnomAD
CA353040780 rs1205314546	102	A>V		No	ClinGen gnomAD
rs754803018 CA2426472	104	E>K		No	ClinGen ExAC gnomAD
rs926538567 CA74676972	108	V>M		No	ClinGen Ensembl
rs1046308991 CA74676970	109	A>S		No	ClinGen TOPMed
CA2426471 rs753478738	109	A>V		No	ClinGen ExAC TOPMed gnomAD
CA353040566 rs1225302644	111	R>C		No	ClinGen gnomAD
CA2426469 rs377033098	111	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1420970454 CA353040521	115	D>Y		No	ClinGen TOPMed
CA353062579 rs1397841110	117	L>F		No	ClinGen gnomAD
CA2426452 rs140696554	119	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs755835747 CA2426451	120	R>K		No	ClinGen ExAC gnomAD
rs750039812 CA2426450	121	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1475346497 CA353062413	122	R>S		No	ClinGen gnomAD
rs766995079 CA353062288	126	L>V		No	ClinGen ExAC gnomAD
CA353062065 rs201771575	133	A>P		No	ClinGen ESP gnomAD
rs201771575 CA74718679	133	A>S		No	ClinGen ESP gnomAD
CA353062066 rs201771575	133	A>T		No	ClinGen ESP gnomAD
CA2426431 rs756765944	134	P>A		No	ClinGen ExAC gnomAD
CA2426432 rs756765944	134	P>T		No	ClinGen ExAC gnomAD
CA2426430 rs751101934	139	I>V		No	ClinGen ExAC gnomAD
rs41292346 CA2426429	140	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2426428 rs113804016	140	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	141	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376449777 CA2426426	141	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM4135367 rs767806343 CA2426423	143	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs145537768 CA2426424	143	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1349640327 CA353061855	144	G>E		No	ClinGen TOPMed
CA353061757 rs1559744037	149	I>T		No	ClinGen Ensembl
CA353061769 rs1449462352	149	I>V		No	ClinGen TOPMed
CA353061730 rs1212532348	150	T>I		No	ClinGen TOPMed
rs1399786680 CA353061734	150	T>S		No	ClinGen gnomAD
rs780800694 CA2426415	154	V>I		No	ClinGen ExAC TOPMed gnomAD
rs770646767 CA2426414	155	T>I		No	ClinGen ExAC gnomAD
rs147544555 CA2426411	157	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1215277376 CA353061593	157	D>G		No	ClinGen gnomAD
rs866643692 CA74718596	157	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2426408 rs370031327	161	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs370031327 CA74718561	161	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2426406 rs750834054 COSM1538123	167	D>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	168	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1369050344 CA353061326	168	C>S		No	ClinGen gnomAD
CA353061259 rs1461114926	170	I>S		No	ClinGen TOPMed
TCGA novel	170	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2426381 rs752854851	174	S>N		No	ClinGen ExAC gnomAD
rs1262347018 CA353061036	175	V>A		No	ClinGen TOPMed gnomAD
rs759528694 CA2426379	175	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2426380 rs759528694	175	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1258587539 CA353061007	177	S>N		No	ClinGen gnomAD
CA353060994 rs1433261257	178	G>E		No	ClinGen TOPMed
CA353060988 rs1479942267	179	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2426378 rs372092049	179	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1559743733 CA353060951	182	H>Q		No	ClinGen Ensembl
CA2426377 rs146452464 COSM731151	185	P>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA353060918 rs1203179549	185	P>S		No	ClinGen gnomAD
CA2426376 rs368177262	186	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA74718066 rs917676765	186	R>Q		No	ClinGen TOPMed
rs1335254274 CA353060900	187	A>G		No	ClinGen gnomAD
rs1361323360 CA353060886	188	K>R		No	ClinGen TOPMed
rs772897107 CA2426375	189	K>R		No	ClinGen ExAC gnomAD
rs539222838 CA353060869	190	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2426374 rs539222838	190	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2426372 rs773867680	192	E>K		No	ClinGen ExAC TOPMed gnomAD
rs978342371 CA74718030	194	K>N		No	ClinGen TOPMed
CA353060773 rs1485821404	195	P>S		No	ClinGen TOPMed
rs1297582768 CA353060752	196	P>L		No	ClinGen gnomAD
CA74718019 rs1015157214	196	P>S		No	ClinGen Ensembl
rs1015157214 CA74718026	196	P>T		No	ClinGen Ensembl
rs1211756632 CA353060724	198	H>L		No	ClinGen TOPMed
rs1162894086 CA353060631	202	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2426368 rs375102491	203	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA353060613 rs375102491	203	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1167334046 CA353060587	204	C>F		No	ClinGen gnomAD
rs1454832023 CA353060593	204	C>R		No	ClinGen gnomAD
rs768365555 CA2426366	208	S>C		No	ClinGen ExAC gnomAD
rs768365555 CA74717998	208	S>F		No	ClinGen ExAC gnomAD
rs1559743679	209	S>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA74717990 rs1028838536	209	S>F		No	ClinGen Ensembl
CA2426363 rs765463558	210	D>N		No	ClinGen ExAC TOPMed
TCGA novel	211	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2426361 rs528635363	211	G>S		No	ClinGen ExAC TOPMed gnomAD
CA353060449 rs1333696273	211	G>V		No	ClinGen gnomAD
CA2426360 rs766200753	213	Y>C		No	ClinGen ExAC gnomAD
rs753881654 CA2426343	215	A>V		No	ClinGen ExAC gnomAD
CA2426342 COSM191159 rs143989805	219	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA353060246 rs1331711911	219	R>H		No	ClinGen gnomAD
rs1331711911 CA353060252	219	R>P		No	ClinGen gnomAD
rs756023802 CA2426341	222	L>F		No	ClinGen ExAC gnomAD
CA2426340 rs750349812	224	L>F		No	ClinGen ExAC gnomAD
rs1384527956 CA353060136	225	I>T		No	ClinGen gnomAD
CA353060094 rs1289809512	226	W>C		No	ClinGen gnomAD
rs1421964190 CA353060021	229	Q>R		No	ClinGen gnomAD
rs767369804 CA2426339	230	S>R		No	ClinGen ExAC gnomAD
rs1455105478 CA353059944	231	C>F		No	ClinGen gnomAD
rs1173522078 CA353059979	231	C>R		No	ClinGen gnomAD
CA74717900 rs907591099	233	H>Q		No	ClinGen TOPMed gnomAD
CA353059911 rs1466115397	233	H>Y		No	ClinGen gnomAD
CA2426337 rs751262871	236	T>A		No	ClinGen ExAC gnomAD
CA353059818 rs1161540283	236	T>I		No	ClinGen TOPMed
CA2426333 rs115426717	238	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761321519 CA2426332	240	H>L		No	ClinGen ExAC TOPMed gnomAD
CA2426331 rs773847916	241	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2426330 rs376861276	241	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2426329 COSM267365 rs376861276	241	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA74717886 rs773847916	241	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2426328 rs779284362	242	D>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	244	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1248405392 CA353059474	244	V>L		No	ClinGen gnomAD
CA2426326 rs140213630	245	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1476239071 CA353059202	246	G>D		No	ClinGen gnomAD
COSM3408777 CA2426305 rs769912031	248	A>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs745972445 CA2426304	250	R>C		No	ClinGen ExAC TOPMed gnomAD
rs151070017 CA2426303	250	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA353059118 rs151070017	250	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs151070017 CA74717487	250	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA74717484 rs956271491	251	R>I		No	ClinGen Ensembl
rs757189817 CA2426302	252	G>D		No	ClinGen ExAC TOPMed gnomAD
CA353059050 rs1371799819	252	G>S		No	ClinGen TOPMed
CA353058990 rs1577650159	253	T>I		No	ClinGen Ensembl
rs1372700504 CA353058967	255	Q>E		No	ClinGen TOPMed
CA353058850 rs1312394050	258	S>R		No	ClinGen TOPMed
CA2426301 rs746906692	259	T>I		No	ClinGen ExAC gnomAD
rs1380019042 CA353058789	259	T>P		No	ClinGen TOPMed
rs367929424 CA353058637	261	H>Q		No	ClinGen ESP ExAC gnomAD
rs148932643 CA2426299	262	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs140029162 CA2426298	263	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1229219426 CA353058592	263	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1358865427 CA353058581	264	S>F		No	ClinGen gnomAD
CA2426296 rs147742914	265	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs147742914 CA2426295	265	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs967504043 CA74717427	266	K>R		No	ClinGen TOPMed gnomAD
CA74717430 rs967504043	266	K>T		No	ClinGen TOPMed gnomAD
rs765933325 CA2426294	269	N>S		No	ClinGen ExAC gnomAD
CA353057453 rs1577650132	272	E>Q		No	ClinGen Ensembl
rs762472272 CA2426293	273	N>K		No	ClinGen ExAC gnomAD
CA353057361 rs1236498187	275	Y>N		No	ClinGen TOPMed
rs531540504 CA2426291	276	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	277	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2426290 rs763355397	278	T>M		No	ClinGen ExAC TOPMed gnomAD
rs763355397 CA353057278	278	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1288640186 CA353057099	281	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1367205046 CA353057078	282	H>Y		No	ClinGen TOPMed
CA2426263 rs771038342	285	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1219364846 CA353056837	289	L>P		No	ClinGen gnomAD
rs1220563548 CA353056825	290	D>H		No	ClinGen TOPMed
CA2426261 rs552091771	291	A>G		No	ClinGen ExAC gnomAD
rs534249993 CA2426260	292	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747966492 CA2426259	293	S>N		No	ClinGen ExAC gnomAD
CA353056715 rs192550426	294	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353056698 rs1432707788	294	R>Q		No	ClinGen gnomAD
rs192550426 CA2426258	294	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200913668 CA2426257	298	V>A		No	ClinGen ExAC TOPMed gnomAD
CA353056563 rs1208744790	298	V>M		No	ClinGen TOPMed
rs748993165 CA2426256	299	T>M		No	ClinGen ExAC TOPMed gnomAD
rs755674100 CA353056493	300	A>P		No	ClinGen ExAC gnomAD
CA2426254 rs755674100	300	A>T		No	ClinGen ExAC gnomAD
rs749980840 CA2426253	302	G>V		No	ClinGen ExAC TOPMed gnomAD
rs758959658 CA2426251	303	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs138782179 CA2426252	303	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs753187638 CA2426250	306	T>A		No	ClinGen ExAC gnomAD
CA2426246 rs766607265	308	R>C		No	ClinGen ExAC TOPMed gnomAD
rs760764528 CA2426245	308	R>H		No	ClinGen ExAC TOPMed gnomAD
rs766607265 CA2426247	308	R>S		No	ClinGen ExAC TOPMed gnomAD
CA2426244 CA353056081 rs143172684	311	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA353056067 rs1577649940	312	I>L		No	ClinGen Ensembl
CA353056011 rs1217575791	313	P>R		No	ClinGen gnomAD
CA353055953 rs1350282752	314	E>D		No	ClinGen TOPMed
rs1279850042 CA353055990	314	E>K		No	ClinGen TOPMed gnomAD
CA353055929 rs1305811193	315	E>K		No	ClinGen TOPMed
CA353055922 rs1305811193	315	E>Q		No	ClinGen TOPMed
CA2426242 rs761880404	316	S>F		No	ClinGen ExAC gnomAD
CA74717274 rs915998759	317	Q>H		No	ClinGen TOPMed gnomAD
CA2426241 rs774401798	317	Q>R		No	ClinGen ExAC gnomAD
rs749121006 CA2426239	321	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA353055744 rs1330776673	322	G>V		No	ClinGen TOPMed gnomAD
rs1466335724 CA353055738	323	H>D		No	ClinGen gnomAD
rs779955723 CA353055728	323	H>P		No	ClinGen ExAC gnomAD
rs779955723 CA2426238	323	H>R		No	ClinGen ExAC gnomAD
rs1481677968 CA353055566	325	G>C		No	ClinGen TOPMed gnomAD
CA353055538 rs1577649768	327	I>V		No	ClinGen Ensembl
COSM1046764 CA2426218 rs374259830	328	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1359003782 CA353055477	329	C>Y		No	ClinGen TOPMed
CA353055458 rs1233602279	330	I>S		No	ClinGen gnomAD
CA2426216 rs369858885	332	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA353055400 rs1487961263	333	I>V		No	ClinGen TOPMed gnomAD
rs1265740084 CA353055369	334	N>S		No	ClinGen gnomAD
rs1351389431 CA353055349	335	E>G		No	ClinGen gnomAD
rs776114603 CA353055358	335	E>K		No	ClinGen ExAC gnomAD
CA2426215 rs776114603	335	E>Q		No	ClinGen ExAC gnomAD
CA353055332 rs1441927942	336	E>K		No	ClinGen TOPMed
rs1238047034 CA353055270	338	M>I		No	ClinGen TOPMed
CA353055275 rs1204112682	338	M>T		No	ClinGen gnomAD
CA2426214 rs770524015	338	M>V		No	ClinGen ExAC TOPMed gnomAD
CA74717173 rs138014839	341	G>S		No	ClinGen ESP
VAR_035888	342	A>E	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
COSM1046763 rs144222078 CA2426211	342	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs758330430 CA2426210	342	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2426208 rs41291742	343	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2426206 rs767659576	344	D>N		No	ClinGen ExAC gnomAD
rs758519439 CA2426185	347	V>L		No	ClinGen ExAC gnomAD
CA353055023 rs1372582218	348	A>V		No	ClinGen TOPMed
CA353054983 rs200319255	351	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2426181 rs200319255	351	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	352	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353054953 rs1345754024	354	K>R		No	ClinGen gnomAD
rs1403765094 CA353054937	355	K>M		No	ClinGen gnomAD
CA2426180 rs766101303	356	R>*		No	ClinGen ExAC TOPMed gnomAD
rs766101303 CA74716898	356	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2426179 rs760375775	356	R>Q		No	ClinGen ExAC gnomAD
rs772844106 CA2426178	357	P>L		No	ClinGen ExAC gnomAD
rs1317523862 CA353054923	357	P>T		No	ClinGen gnomAD
rs771622828 CA2426177	358	L>F		No	ClinGen ExAC gnomAD
rs760273754 CA2426176	359	A>S		No	ClinGen ExAC TOPMed
CA2426173 rs746328571	362	R>C		No	ClinGen ExAC gnomAD
rs200679569 CA2426172	362	R>H		No	ClinGen ExAC gnomAD
rs200679569 CA353054885	362	R>P		No	ClinGen ExAC gnomAD
rs1422552574 CA353054881	363	E>K		No	ClinGen gnomAD
rs1254870023 CA353054867	365	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2426169 rs778116714 CA353054861	366	G>R		No	ClinGen ExAC TOPMed gnomAD
rs557872868 CA2426165	368	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2426164 rs557872868	368	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2426166 rs142340392	368	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1196899412 CA353054846	369	G>E		No	ClinGen gnomAD
CA353054833 rs1258992864	371	P>A		No	ClinGen TOPMed gnomAD
CA353054830 rs1438113448	371	P>L		No	ClinGen TOPMed gnomAD
rs1359839369 CA353054826	372	G>D		No	ClinGen TOPMed
rs1342854247 CA353054798	376	P>R		No	ClinGen gnomAD
CA2426160 rs774886247	379	I>M		No	ClinGen ExAC gnomAD
CA353054774 rs1316523511	379	I>T		No	ClinGen gnomAD
CA2426158 rs773747952	380	S>L		No	ClinGen ExAC TOPMed gnomAD
CA2426159 rs773747952	380	S>W		No	ClinGen ExAC TOPMed gnomAD
CA2426157 rs768199372	381	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1577649341 CA353054759	382	V>G		No	ClinGen Ensembl
rs1388235903 CA353054742	385	L>P		No	ClinGen gnomAD
rs1162437582 CA353054725	388	T>A		No	ClinGen gnomAD
rs777248874 CA353054713	389	D>E		No	ClinGen ExAC gnomAD
rs771469242 CA2426154	390	L>F		No	ClinGen ExAC gnomAD
rs1439123488 CA353054703	391	V>A		No	ClinGen gnomAD
rs1439123488 CA353054702	391	V>G		No	ClinGen gnomAD
CA2426131 rs768714666	398	S>A		No	ClinGen ExAC gnomAD
rs749403757 CA2426130	399	C>S		No	ClinGen ExAC gnomAD
TCGA novel	400	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1577649244 CA353054633	400	V>L		No	ClinGen Ensembl
CA2426129 rs780045263	401	R>Q		No	ClinGen ExAC gnomAD
rs1347098187 CA353054629	401	R>W		No	ClinGen gnomAD
rs1361156434 CA353054606	404	Q>R		No	ClinGen gnomAD
rs756063793 CA2426128	406	G>V		No	ClinGen ExAC
rs1380328220 CA353054586	407	E>A		No	ClinGen gnomAD
CA353054567 rs745791944	410	R>G		No	ClinGen ExAC TOPMed gnomAD
rs781032974 CA2426126	410	R>P		No	ClinGen ExAC TOPMed gnomAD
rs781032974 CA74716638	410	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2426127 rs745791944	410	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1433951982 CA353054561	411	Q>R		No	ClinGen TOPMed
CA353054551 rs1292600805	413	D>H		No	ClinGen TOPMed
CA74716626 rs937210917	414	L>F		No	ClinGen TOPMed
CA2426124 rs544218859	416	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1728576 rs757946787 CA2426122	418	I>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA74716606 rs927117982	419	P>A		No	ClinGen TOPMed
rs1217270220 CA353054502	420	L>R		No	ClinGen TOPMed gnomAD
rs752258178 CA353054505	420	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1213777142 CA353054487	421	V>M		No	ClinGen gnomAD
rs1163201741 CA353054451	426	S>N		No	ClinGen TOPMed gnomAD
CA2426081 rs778682899	428	K>E		No	ClinGen ExAC gnomAD
CA2426078 rs779377171	434	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA353054356 rs1577648795	440	V>G		No	ClinGen Ensembl
rs757845025 CA2426077	441	G>R		No	ClinGen ExAC gnomAD
rs964331394 CA353054346	442	Q>L		No	ClinGen TOPMed gnomAD
rs964331394 CA74716156	442	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	443	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1386448727 CA353054307	446	L>V		No	ClinGen gnomAD
rs747603929 CA2426057	448	R>*		No	ClinGen ExAC TOPMed gnomAD
rs778278452 CA2426056	448	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1360507398 CA353054253	451	R>S		No	ClinGen gnomAD
CA353053582 rs1464551976	455	A>P		No	ClinGen TOPMed
rs145312939 CA2426053	456	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145312939 CA2426054	456	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1014160238 CA74716048	456	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2426052 rs765524674	459	V>I		No	ClinGen ExAC gnomAD
rs755282500 CA2426051	460	C>S		No	ClinGen ExAC TOPMed gnomAD
rs891682895 CA74716029	461	I>T		No	ClinGen TOPMed
CA353053452 rs1052953220	462	I>M		No	ClinGen TOPMed gnomAD
rs1487256316 CA353053449	463	P>A		No	ClinGen gnomAD
CA2426048 rs760648950	465	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA353053403 rs773293076	465	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA74716017 rs773293076	465	R>L		No	ClinGen ExAC TOPMed gnomAD
rs773293076 CA2426047	465	R>P		No	ClinGen ExAC TOPMed gnomAD
CA353053317 rs1324619155	471	P>T		No	ClinGen gnomAD
rs761785735 CA2426045	472	A>P		No	ClinGen ExAC gnomAD
CA353053253 rs1217236130	474	G>D		No	ClinGen gnomAD
CA353053229 rs1340415695	475	S>C		No	ClinGen gnomAD

No associated diseases with O43818

5 regional properties for O43818

Type	Name	Position	InterPro Accession
repeat	WD40 repeat	135 - 404	IPR001680
conserved_site	WD40 repeat, conserved site	256 - 270	IPR019775
repeat	G-protein beta WD-40 repeat	256 - 270	IPR020472-1
repeat	G-protein beta WD-40 repeat	298 - 312	IPR020472-2
repeat	G-protein beta WD-40 repeat	338 - 352	IPR020472-3

Functions

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

4 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.
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.

3 GO annotations of molecular function

Name	Definition
RNA binding	Binding to an RNA molecule or a portion thereof.
snoRNA binding	Binding to a small nucleolar RNA.
U3 snoRNA binding	Binding to a U3 small nucleolar RNA.

1 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.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q75LV5	Os03g0625900	U3 snoRNP-associated protein-like YAOH	Oryza sativa subsp japonica (Rice)	PR

10	20	30	40	50	60
MSATAAARKR	GKPASGAGAG	AGAGKRRRKA	DSAGDRGKSK	GGGKMNEEIS	SDSESESLAP
70	80	90	100	110	120
RKPEEEEEEE	LEETAQEKKL	RLAKLYLEQL	RQQEEEKAEA	RAFEEDQVAG	RLKEDVLEQR
130	140	150	160	170	180
GRLQKLVAKE	IQAPASADIR	VLRGHQLSIT	CLVVTPDDSA	IFSAAKDCSI	IKWSVESGRK
190	200	210	220	230	240
LHVIPRAKKG	AEGKPPGHSS	HVLCMAISSD	GKYLASGDRS	KLILIWEAQS	CQHLYTFTGH
250	260	270	280	290	300
RDAVSGLAFR	RGTHQLYSTS	HDRSVKVWNV	AENSYVETLF	GHQDAVAALD	ALSRECCVTA
310	320	330	340	350	360
GGRDGTVRVW	KIPEESQLVF	YGHQGSIDCI	HLINEEHMVS	GADDGSVALW	GLSKKRPLAL
370	380	390	400	410	420
QREAHGLRGE	PGLEQPFWIS	SVAALLNTDL	VATGSHSSCV	RLWQCGEGFR	QLDLLCDIPL
430	440	450	460	470
VGFINSLKFS	SSGDFLVAGV	GQEHRLGRWW	RIKEARNSVC	IIPLRRVPVP	PAAGS