AiPD: Autoinhibited Protein Database

Q9NZM5

Gene name	NOP53
Protein name	Ribosome biogenesis protein NOP53
Names	Glioma tumor suppressor candidate region gene 2 protein, Protein interacting with carboxyl terminus 1, PICT-1, p60
Species	Homo sapiens (Human)
KEGG Pathway	hsa:29997
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-478 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-478 (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

16 structures for Q9NZM5

Entry ID	Method	Resolution	Chain	Position	Source
8FKZ	EM	304 A	NL	1-478	PDB
8FL2	EM	267 A	NL	1-478	PDB
8FL3	EM	253 A	NL	1-478	PDB
8FL4	EM	289 A	NL	1-478	PDB
8FL6	EM	262 A	NL	1-478	PDB
8FL7	EM	255 A	NL	1-478	PDB
8FLA	EM	263 A	NL	1-478	PDB
8FLB	EM	255 A	NL	1-478	PDB
8FLD	EM	258 A	NL	1-478	PDB
8FLE	EM	248 A	NL	1-478	PDB
8INE	EM	320 A	w	1-478	PDB
8INF	EM	300 A	w	1-478	PDB
8IPX	EM	430 A	f	1-478	PDB
8IPY	EM	320 A	f	1-478	PDB
8IR3	EM	350 A	f	1-478	PDB
AF-Q9NZM5-F1	Predicted				AlphaFoldDB

540 variants for Q9NZM5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA406630626 rs1488574259	2	A>T		No	ClinGen gnomAD
rs1351809298 CA406630635	2	A>V		No	ClinGen TOPMed gnomAD
rs770656655 CA9542982	3	A>G		No	ClinGen ExAC TOPMed gnomAD
rs749408034 CA9542981	3	A>T		No	ClinGen ExAC TOPMed gnomAD
CA309236996 rs770656655	3	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9542983 rs774393641	4	G>A		No	ClinGen ExAC TOPMed gnomAD
CA309237012 rs774393641	4	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1223467869 CA406630651	4	G>R		No	ClinGen gnomAD
CA309237029 rs971089200	5	G>D		No	ClinGen TOPMed
CA9542985 rs768836011	5	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1025115901 CA309237035	6	S>G		No	ClinGen gnomAD
CA406630682 rs762122920	6	S>I		No	ClinGen ExAC TOPMed gnomAD
CA9542987 rs762122920	6	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1025115901 CA309237034	6	S>R		No	ClinGen gnomAD
rs10404034 CA309237038	6	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA406630697 rs1319197869	7	G>A		No	ClinGen Ensembl
CA309237045 rs941159861	7	G>C		No	ClinGen TOPMed gnomAD
CA406630689 rs941159861	7	G>S		No	ClinGen TOPMed gnomAD
rs763326567 CA9542990	8	V>I		No	ClinGen ExAC TOPMed gnomAD
rs557916840 CA9542991	9	G>C		No	ClinGen 1000Genomes ExAC gnomAD
CA9542994 rs376292602 CA9542996	11	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs867575407 CA309237066	12	R>C		No	ClinGen TOPMed
rs867575407 CA406630762	12	R>G		No	ClinGen TOPMed
rs534027053 CA9542997	13	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA9542998 VAR_024456 rs1042401	16	S>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9542999 rs770730864	17	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778901642 CA9543000	18	A>D		No	ClinGen ExAC gnomAD
CA406630854 rs1315408403	18	A>T		No	ClinGen TOPMed gnomAD
rs745789254 CA9543001	19	D>A		No	ClinGen ExAC gnomAD
CA9543002 rs149422566	20	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1438661712 CA406630897	21	G>R		No	ClinGen gnomAD
rs761894698 CA9543004	23	L>P		No	ClinGen ExAC gnomAD
rs761894698 CA406630932	23	L>R		No	ClinGen ExAC gnomAD
CA406630941 rs1184762070	24	G>E		No	ClinGen gnomAD
CA406630935 rs1484515479	24	G>R		No	ClinGen gnomAD
rs1161228270 CA406630958	26	R>Q		No	ClinGen gnomAD
CA9543005 rs369247634	26	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1470666847 CA406630966	27	P>S		No	ClinGen TOPMed
CA9543006 rs773442060	29	S>L		No	ClinGen ExAC TOPMed gnomAD
CA406630996 rs1352274736	30	V>A		No	ClinGen gnomAD
rs1169117889 CA406630992	30	V>L		No	ClinGen gnomAD
CA9543008 rs78530808	31	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1337347723 CA406631024	32	P>L		No	ClinGen gnomAD
rs576263200 CA9543010	33	A>E		No	ClinGen 1000Genomes ExAC gnomAD
rs939959610 CA406631033	33	A>P		No	ClinGen TOPMed
rs939959610 CA309237114	33	A>S		No	ClinGen TOPMed
rs576263200 CA9543009	33	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA309237120 rs1042439393	34	L>V		No	ClinGen TOPMed
CA9543013 rs753230193	35	R>K		No	ClinGen ExAC gnomAD
CA406631066 rs1231103939	36	R>Q		No	ClinGen TOPMed
CA9543014 rs755612274	36	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs144346550 CA309237148	37	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9543017 rs756919420	37	R>Q		No	ClinGen ExAC gnomAD
rs778846533 CA9543018	38	R>G		No	ClinGen ExAC TOPMed gnomAD
rs778846533 CA309237153	38	R>W		No	ClinGen ExAC TOPMed gnomAD
CA406631126 rs1285450181	41	P>R		No	ClinGen TOPMed
rs1349243122 CA406631135	42	R>K		No	ClinGen TOPMed
CA406631156 rs1475504785	43	N>K		No	ClinGen gnomAD
rs780090942 CA9543021	43	N>S		No	ClinGen ExAC gnomAD
rs746948849 CA9543022	44	K>E		No	ClinGen ExAC
rs769884573 CA9543024	44	K>N		No	ClinGen ExAC gnomAD
CA406631161 rs1286401525	44	K>R		No	ClinGen TOPMed
CA9543025 rs749510337	45	K>R		No	ClinGen ExAC TOPMed gnomAD
CA9543026 rs749510337	45	K>T		No	ClinGen ExAC TOPMed gnomAD
CA9543027 rs541080070	46	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1468232634 CA406631237	49	R>L		No	ClinGen gnomAD
CA9543030 rs776036516	50	R>L		No	ClinGen ExAC TOPMed gnomAD
rs776036516 CA406631245	50	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9543031 rs377340728	51	L>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9543032 rs370941645	52	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA9543033 rs753358245	53	Q>*		No	ClinGen ExAC gnomAD
CA406631275 rs753358245	53	Q>E		No	ClinGen ExAC gnomAD
rs1159651795 CA406631285	53	Q>H		No	ClinGen TOPMed
rs373099551 CA309237249	54	E>V		No	ClinGen ESP TOPMed
rs756795856 CA9543034	55	P>L		No	ClinGen ExAC gnomAD
rs756795856 CA9543035	55	P>Q		No	ClinGen ExAC gnomAD
rs1013833316 CA309237250	55	P>S		No	ClinGen TOPMed gnomAD
CA406631322 rs1165340448	56	L>P		No	ClinGen TOPMed
rs1025252836 CA309237259	57	G>V		No	ClinGen TOPMed
rs758226662 CA406631338	58	L>V		No	ClinGen ExAC TOPMed gnomAD
CA309237265 rs1012513533	60	V>G		No	ClinGen Ensembl
rs754925914 CA9543040	61	D>E		No	ClinGen ExAC TOPMed gnomAD
CA406631392 rs1599910996	61	D>V		No	ClinGen Ensembl
rs746939560 CA9543039	61	D>Y		No	ClinGen ExAC gnomAD
CA309237270 rs999681608	63	F>L		No	ClinGen TOPMed
CA406631466 rs1479385008	65	E>A		No	ClinGen gnomAD
rs774520687 CA9543044	66	D>G		No	ClinGen ExAC gnomAD
rs894047871 CA309237285	67	V>M		No	ClinGen gnomAD
CA9543046 rs772407067	68	R>Q		No	ClinGen ExAC gnomAD
TCGA novel	68	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1363649887 CA406631538	70	Q>*		No	ClinGen TOPMed
CA406631576 rs775777313	72	R>L		No	ClinGen ExAC gnomAD
CA9543047 rs775777313	72	R>P		No	ClinGen ExAC gnomAD
rs1343723525 CA406631581	73	T>A		No	ClinGen TOPMed gnomAD
rs761356503 CA9543051	75	G>C		No	ClinGen ExAC TOPMed gnomAD
CA9543052 rs200592342	75	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs761356503 CA309237320	75	G>S		No	ClinGen ExAC TOPMed gnomAD
CA309238777 rs952417909	76	G>R		No	ClinGen Ensembl
rs1338215677 CA406632094	77	L>F		No	ClinGen gnomAD
CA406632077 rs1599912373	77	L>M		No	ClinGen Ensembl
CA9543085 rs747285418	78	L>F		No	ClinGen ExAC TOPMed gnomAD
rs768869974 CA9543086	79	S>L		No	ClinGen ExAC gnomAD
CA9543087 rs781657354	81	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9543088 rs138693122	82	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138693122 CA406632177	82	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773855881 CA309238797	83	N>D		No	ClinGen ExAC TOPMed gnomAD
rs773855881 CA9543090	83	N>H		No	ClinGen ExAC TOPMed gnomAD
rs376920355 CA309238809	86	L>V		No	ClinGen ESP TOPMed gnomAD
TCGA novel	89	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9543093 COSM1208356 rs377320767	89	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs980429337 CA406632286	90	D>E		No	ClinGen gnomAD
rs200949193 CA309238842	90	D>G		No	ClinGen 1000Genomes
rs759285088 CA9543094	91	T>A		No	ClinGen ExAC gnomAD
rs370670728 CA9543095	91	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370670728 CA9543096	91	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370153104 CA309238918	93	S>C		No	ClinGen ExAC gnomAD
CA406632318 rs370153104	93	S>F		No	ClinGen ExAC gnomAD
rs370153104 CA9543099	93	S>Y		No	ClinGen ExAC gnomAD
CA309238921 rs865876387	94	K>E		No	ClinGen TOPMed
CA406632321 rs865876387	94	K>Q		No	ClinGen TOPMed
rs200362405 CA9543100	94	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs747880706 CA9543130	99	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1408774159 CA406632770	99	T>I		No	ClinGen gnomAD
rs1248398632 CA406632773	100	K>E		No	ClinGen gnomAD
rs1292810354 CA406632780	101	K>Q		No	ClinGen TOPMed gnomAD
CA9543132 rs779295677	102	R>K		No	ClinGen ExAC TOPMed gnomAD
CA406632799 rs1568598504	103	T>N		No	ClinGen Ensembl
CA309245796 rs374126674	106	Q>R		No	ClinGen TOPMed
rs771504939 CA9543134	107	K>R		No	ClinGen ExAC gnomAD
rs556471247 CA9543135	110	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs746705150 CA9543136	111	L>P		No	ClinGen ExAC gnomAD
CA9543138 rs776466959	112	L>F		No	ClinGen ExAC gnomAD
rs990927285 CA309245831	112	L>P		No	ClinGen TOPMed gnomAD
rs769705489 CA309245834	117	R>P		No	ClinGen ExAC TOPMed gnomAD
rs769705489 CA9543140	117	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs761652099 COSM1751021 CA9543139	117	R>W	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA406632889 rs1289239748	118	V>A		No	ClinGen TOPMed
TCGA novel	119	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9543141 rs368854122	120	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA9543142 rs376945750	120	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs769508522 CA9543145	123	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9543146 rs769508522	123	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1315550566 CA406632937	126	S>P		No	ClinGen gnomAD
CA9543147 rs538970171	127	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1277173620 CA406632949	128	V>I		No	ClinGen TOPMed
CA406632959 rs1275121716	129	P>L		No	ClinGen gnomAD
CA406632957 rs1226834505	129	P>S		No	ClinGen gnomAD
CA9543148 rs757576784	130	A>S		No	ClinGen ExAC gnomAD
rs779428264 CA9543149	130	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9543151 rs757874550	131	P>R		No	ClinGen ExAC gnomAD
rs750926337 CA9543150	131	P>S		No	ClinGen ExAC gnomAD
CA406632965 rs750926337	131	P>T		No	ClinGen ExAC gnomAD
rs200507351 CA9543153	132	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1568598558 CA406632990	133	D>G		No	ClinGen Ensembl
CA9543154 rs768363610	133	D>N		No	ClinGen ExAC gnomAD
CA9543183 rs182778933	134	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA406633125 rs1343554548	135	L>F		No	ClinGen gnomAD
CA309246575 rs1045370811	136	A>G		No	ClinGen gnomAD
CA9543186 rs11538670	136	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9543185 rs11538670	136	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs752079527 CA9543189	137	H>L		No	ClinGen ExAC gnomAD
rs766813811 CA9543188	137	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA9543190 rs754441438	138	Q>R		No	ClinGen ExAC gnomAD
rs766972921 CA9543191	140	P>R		No	ClinGen ExAC gnomAD
CA406633206 rs376586593 COSM1129773	141	N>K	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs374284146 CA9543192	141	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA309246607 rs370551658	142	A>S		No	ClinGen ESP TOPMed gnomAD
CA309246606 rs370551658	142	A>T		No	ClinGen ESP TOPMed gnomAD
rs1419261509 CA406633220	143	K>E		No	ClinGen gnomAD
CA9543196 rs757145124	143	K>N		No	ClinGen ExAC gnomAD
CA9543195 rs749037982	143	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1031122041 CA309246663	144	K>E		No	ClinGen TOPMed
TCGA novel	144	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406633269 rs1405609108	146	R>S		No	ClinGen gnomAD
rs778954710 CA9543197	147	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA406633272 rs1451127380	147	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA406633285 rs1329841892	148	K>R		No	ClinGen gnomAD
rs1321760560 CA406633315	150	Q>K		No	ClinGen TOPMed
CA9543199 rs768761077	152	W>R		No	ClinGen ExAC TOPMed gnomAD
CA406633345 rs1221549016	153	E>D		No	ClinGen TOPMed gnomAD
rs776634751 CA9543200	154	K>N		No	ClinGen ExAC gnomAD
CA406633356 rs1361197848	155	L>P		No	ClinGen gnomAD
rs748396660 CA9543201	156	A>V		No	ClinGen ExAC gnomAD
CA406633369 rs1449742756	157	K>R		No	ClinGen gnomAD
rs769839944 CA9543202	158	Q>H		No	ClinGen ExAC gnomAD
CA406633387 rs1387280634	160	E>A		No	ClinGen gnomAD
CA9543204 rs142744872	160	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs541246368 CA309246699	162	P>T		No	ClinGen 1000Genomes gnomAD
TCGA novel	163	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9543207 rs760081568	163	R>Q		No	ClinGen ExAC gnomAD
rs561564168 COSM3106726 CA9543206	163	R>W	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1599916132 CA406633418	165	V>G		No	ClinGen Ensembl
CA9543208 rs755859075	166	R>C		No	ClinGen ExAC TOPMed gnomAD
rs752084705 CA9543209	166	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA406633422 rs752084705	166	R>L		No	ClinGen ExAC TOPMed gnomAD
CA309246737 rs986428663	167	R>G		No	ClinGen Ensembl
rs1599916147 CA406633428	167	R>S		No	ClinGen Ensembl
CA406633432 rs1317685709	168	A>D		No	ClinGen gnomAD
rs1444983819 CA406633429	168	A>T		No	ClinGen gnomAD
rs1317685709 CA406633434	168	A>V		No	ClinGen gnomAD
CA309246748 rs11538675	169	Q>E		No	ClinGen gnomAD
rs755667216 CA9543210	169	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA406633447 rs763608461	171	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9543212 rs753576026	171	R>Q		No	ClinGen ExAC gnomAD
CA9543211 rs763608461	171	R>W		No	ClinGen ExAC TOPMed gnomAD
CA406633452 rs1197436386	172	L>F		No	ClinGen gnomAD
rs1357288978 CA406633459	173	L>H		No	ClinGen TOPMed
rs1176542354 CA406633467	174	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA406633471 rs550344636	175	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs550344636 CA9543215	175	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1476417921 CA406633488	178	T>A		No	ClinGen gnomAD
rs1168604679 CA406633492	178	T>I		No	ClinGen gnomAD
rs976790858 CA309246810	180	A>G		No	ClinGen TOPMed gnomAD
rs1407307888 CA406633511	181	K>N		No	ClinGen gnomAD
rs146968654 CA9543217	181	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1338387081 CA406633522	183	G>E		No	ClinGen gnomAD
rs368183644 COSM998802 CA9543219	183	G>R	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1228935237 CA406633525	184	P>S		No	ClinGen gnomAD
TCGA novel	185	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1315590552 CA406633546	187	T>A		No	ClinGen TOPMed
rs1317212561 CA406633550	187	T>I		No	ClinGen gnomAD
rs749548679 CA9543221	188	V>I		No	ClinGen ExAC TOPMed gnomAD
rs771260845 CA9543222	189	E>Q		No	ClinGen ExAC gnomAD
rs150894017 CA9543225	190	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM4132206 rs34462252 CA9543223	190	R>W	thyroid [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs763738360 CA9543228	192	F>V		No	ClinGen ExAC gnomAD
rs748925558 CA9543229	193	Y>C		No	ClinGen ExAC gnomAD
CA309246846 rs1045026502	194	D>N		No	ClinGen TOPMed
CA406633595 rs1430363723	195	L>F		No	ClinGen gnomAD
rs374750859 CA9543232	196	W>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9543233 rs758225393	197	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1383621974 CA406633611	197	A>V		No	ClinGen gnomAD
rs1003555620 CA309246878	199	D>N		No	ClinGen gnomAD
CA406633642 rs1180469137	200	N>I		No	ClinGen TOPMed gnomAD
rs1349961247 CA406633643	200	N>K		No	ClinGen gnomAD
TCGA novel	203	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149555718 CA9543260	205	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149555718 CA9543259	205	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747469849 CA9543262	206	L>F		No	ClinGen ExAC gnomAD
rs140040455 CA9543264	208	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs906527074 CA309247435	209	Q>*		No	ClinGen TOPMed
CA9543265 rs747609478	210	D>E		No	ClinGen ExAC gnomAD
rs927759368 CA309247445	212	F>V		No	ClinGen Ensembl
rs772705450 CA9543267	213	F>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	215	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA309247453 rs1036406955	215	E>K		No	ClinGen TOPMed
CA9543270 rs548451384	219	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759329135 CA9543271	220	K>R		No	ClinGen ExAC gnomAD
CA406633777 CA9543272 rs767396110	221	G>R		No	ClinGen ExAC gnomAD
rs1568599130 CA406633784	222	V>M		No	ClinGen Ensembl
rs570192319 CA9543273	223	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs142374779 CA406633793	223	K>N		No	ClinGen 1000Genomes TOPMed
CA9543274 rs200973335	223	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs748772854 CA406633908	224	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9543303 rs143683088	224	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748772854 COSM998803 CA9543302	224	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA406633915 rs1192346651	225	P>L		No	ClinGen gnomAD
rs114474247 CA9543304	225	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9543305 rs745569085	226	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs139256610 CA9543306	227	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs375753664 CA9543307	227	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs375753664 CA309248499	227	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA406633921 rs139256610	227	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA406633929 rs1329842173	229	H>Y		No	ClinGen TOPMed
rs1399446817 CA406633938	230	T>A		No	ClinGen gnomAD
CA406633940 rs1296498032	230	T>N		No	ClinGen gnomAD
CA406633937 rs1399446817	230	T>P		No	ClinGen gnomAD
rs1443944103 CA406633952	232	P>A		No	ClinGen TOPMed
CA406633956 rs1437830247	232	P>L		No	ClinGen TOPMed gnomAD
rs751804883 CA9543314	233	S>F		No	ClinGen ExAC gnomAD
rs1287676983 CA406633965	234	Q>P		No	ClinGen gnomAD
CA9543315 rs759894596	235	A>V		No	ClinGen ExAC TOPMed gnomAD
CA406633981 rs1453187852	237	A>T		No	ClinGen gnomAD
rs756770937 CA406633988	238	V>L		No	ClinGen ExAC TOPMed gnomAD
rs756770937 CA9543321	238	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA406633994 rs1180322145	239	E>*		No	ClinGen gnomAD
CA406634005 rs1599917942	240	V>G		No	ClinGen Ensembl
rs202204556 CA9543323	241	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1156872548 CA406634015	242	P>L		No	ClinGen gnomAD
CA9543326 rs779697713	244	G>R		No	ClinGen ExAC gnomAD
rs896255998 CA309248584	245	A>T		No	ClinGen TOPMed
rs1599917978 CA406634035	246	S>A		No	ClinGen Ensembl
rs758354470 CA9543327	247	Y>*		No	ClinGen ExAC
rs1568599496 CA406634042	247	Y>C		No	ClinGen Ensembl
CA406634047 rs1329896788	248	N>D		No	ClinGen gnomAD
rs768365200 CA9543329	248	N>S		No	ClinGen ExAC TOPMed gnomAD
CA309248621 rs900359255	250	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs776596607 CA9543330	250	S>P		No	ClinGen ExAC TOPMed gnomAD
CA9543331 rs761701440	252	E>G		No	ClinGen ExAC gnomAD
CA9543332 rs771026757	253	D>E		No	ClinGen ExAC gnomAD
rs774638960 CA9543333	254	H>R		No	ClinGen ExAC gnomAD
CA406634095 rs1209964045	255	Q>*		No	ClinGen gnomAD
CA406634094 rs1209964045	255	Q>E		No	ClinGen gnomAD
CA406634098 rs1289025792	255	Q>R		No	ClinGen gnomAD
rs1568600038 CA406634115	256	T>S		No	ClinGen Ensembl
CA309250825 rs972911855	256	T>S		No	ClinGen Ensembl
rs1403889825 CA406634119	257	L>V		No	ClinGen gnomAD
CA309250826 rs954327260	258	L>P		No	ClinGen TOPMed
CA406634132 rs1396264051	259	S>L		No	ClinGen gnomAD
CA406634134 rs1332856770	260	A>T		No	ClinGen gnomAD
rs375058176 CA9543349	260	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1470191506 CA406634141	261	A>S		No	ClinGen gnomAD
CA309250833 rs912756913	262	H>Y		No	ClinGen TOPMed
CA406634448 rs192330726	263	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA309250835 rs991127914	263	E>K		No	ClinGen TOPMed gnomAD
rs1200121775 CA406634468	265	E>A		No	ClinGen TOPMed gnomAD
CA9543354 rs375712695	268	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA309250863 rs948392042	268	R>W		No	ClinGen gnomAD
rs1599919845 CA406634537	271	E>K		No	ClinGen Ensembl
rs764516263 CA9543355	272	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1178616270 CA406634586	274	K>N		No	ClinGen gnomAD
CA9543357 rs762256139	275	L>P		No	ClinGen ExAC gnomAD
rs1373291967 CA406634603	277	R>L		No	ClinGen TOPMed gnomAD
CA406634602 rs1373291967	277	R>P		No	ClinGen TOPMed gnomAD
rs1373291967 CA406634601	277	R>Q		No	ClinGen TOPMed gnomAD
CA9543359 rs750962220	277	R>W		No	ClinGen ExAC TOPMed gnomAD
rs576309511 CA9543360	278	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
CA406634616 rs1380458346	279	L>R		No	ClinGen gnomAD
CA406634613 rs1339688238	279	L>V		No	ClinGen gnomAD
rs1303080845 CA406634617	280	A>T		No	ClinGen gnomAD
CA9543362 rs751206384	283	A>T		No	ClinGen ExAC TOPMed gnomAD
CA406634638 rs1278419290	283	A>V		No	ClinGen gnomAD
CA9543363 rs200463741	284	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1015468840 CA309250950	286	Q>R		No	ClinGen TOPMed gnomAD
rs747839472 CA9543365	287	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9543368 rs749288203	288	A>G		No	ClinGen ExAC gnomAD
CA9543367 rs201282982	288	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs904083317 CA406634669	289	T>A		No	ClinGen gnomAD
rs904083317 CA309250991	289	T>P		No	ClinGen gnomAD
rs1402430946 CA406634680	290	Q>H		No	ClinGen TOPMed
CA406634704 rs1599920113	292	S>A		No	ClinGen Ensembl
CA406634705 rs1178885991	292	S>F		No	ClinGen gnomAD
rs1406855798 CA406634721	294	F>L		No	ClinGen gnomAD
CA309251118 rs1054113663	295	Q>H		No	ClinGen TOPMed gnomAD
CA406634725 rs1429483451	295	Q>P		No	ClinGen TOPMed
CA406634731 rs1166375316	296	E>*		No	ClinGen gnomAD
CA309251122 rs531826853	297	L>M		No	ClinGen 1000Genomes gnomAD
CA406634741 rs1457358911	298	C>R		No	ClinGen gnomAD
CA406634749 rs1402232526	299	E>K		No	ClinGen TOPMed gnomAD
rs755952857 CA9543384	300	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1430013275 CA406634769	302	L>Q		No	ClinGen TOPMed
CA9543385 rs777770272	303	E>K		No	ClinGen ExAC
rs1230100395 CA406634792	305	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs753822684 CA9543386	306	D>V		No	ClinGen ExAC gnomAD
rs928326685 CA309251160 CA406634812	308	E>D		No	ClinGen TOPMed gnomAD
rs934324641 CA309251170	309	G>A		No	ClinGen Ensembl
CA406634818 rs1260337069	310	E>K		No	ClinGen gnomAD
rs867458080 CA406634827	311	P>A		No	ClinGen TOPMed gnomAD
rs867458080 CA309251173	311	P>S		No	ClinGen TOPMed gnomAD
rs1198458868 CA406634832	312	G>C		No	ClinGen gnomAD
CA406634844 rs1479486704	313	Q>H		No	ClinGen gnomAD
TCGA novel	313	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs551821723 CA9543388	314	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs907006566 CA406634850	315	E>K		No	ClinGen TOPMed gnomAD
CA309251184 rs907006566	315	E>Q		No	ClinGen TOPMed gnomAD
rs768814462 CA9543390	317	P>L		No	ClinGen ExAC TOPMed gnomAD
CA309251296 rs571625521	318	E>G		No	ClinGen 1000Genomes gnomAD
CA9543391 rs781243046	319	A>G		No	ClinGen ExAC gnomAD
CA406634885 rs1450467111	320	G>E		No	ClinGen gnomAD
rs947244806 CA309251313	322	A>T		No	ClinGen gnomAD
rs898400959 CA309251321	323	E>K		No	ClinGen TOPMed gnomAD
rs770128574 CA9543393	324	V>F		No	ClinGen ExAC TOPMed gnomAD
rs1305022354 CA406634908	324	V>G		No	ClinGen TOPMed
rs11538671 CA309251338	325	C>F		No	ClinGen Ensembl
CA9543394 rs773628746	326	P>A		No	ClinGen ExAC gnomAD
rs1293760998 CA406634925	327	T>A		No	ClinGen gnomAD
rs201876600 CA9543395	327	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771284064 CA406634932	328	P>L		No	ClinGen ExAC gnomAD
CA9543396 rs771284064	328	P>R		No	ClinGen ExAC gnomAD
CA9543398 COSM1394955 rs758927975	329	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs767092980 CA9543399	330	R>C		No	ClinGen ExAC TOPMed
rs767092980 CA406634938	330	R>G		No	ClinGen ExAC TOPMed
rs897201935 CA309251377	330	R>L		No	ClinGen TOPMed gnomAD
rs1265245877 CA406634945	331	L>P		No	ClinGen gnomAD
rs752280755 CA406634943	331	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1478141964 CA406634947	332	A>T		No	ClinGen gnomAD
rs994568783 CA309251399	333	T>A		No	ClinGen TOPMed
CA406634957 rs1185661319	333	T>I		No	ClinGen gnomAD
rs760472906 CA9543401	334	T>A		No	ClinGen ExAC gnomAD
CA406634962 rs1416331078	334	T>I		No	ClinGen gnomAD
CA9543405 rs753630824	337	K>T		No	ClinGen ExAC TOPMed gnomAD
rs757144946 CA9543406	338	T>M		No	ClinGen ExAC TOPMed gnomAD
rs778677836 CA9543407	340	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs991513152 CA309251463	342	R>Q		No	ClinGen TOPMed gnomAD
CA9543408 rs750418232	342	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9543410 rs781387703	343	R>Q		No	ClinGen ExAC gnomAD
rs536507041 CA9543409	343	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9543412 rs756258172	344	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9543411 rs748360714	344	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1287564890 CA406635025	345	E>K		No	ClinGen gnomAD
rs1488551236 CA406635033	346	K>E		No	ClinGen gnomAD
rs1364260973 CA406635045	348	V>M		No	ClinGen TOPMed gnomAD
CA406635057 rs1250015792	349	H>Q		No	ClinGen TOPMed
rs550111809 CA9543413 COSM439879	349	H>R	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA406635058 rs1175857487	350	R>G		No	ClinGen TOPMed
CA9543414 rs749605779	350	R>T		No	ClinGen ExAC
CA406635067 rs1191624285	351	L>P		No	ClinGen TOPMed gnomAD
CA406635083 rs1251691044	352	R>L		No	ClinGen TOPMed gnomAD
rs1251691044 CA406635084	352	R>Q		No	ClinGen TOPMed gnomAD
CA406635081 rs556948515	352	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA406635085 rs1338910621	353	V>I		No	ClinGen gnomAD
CA406635087 rs1338910621	353	V>L		No	ClinGen gnomAD
rs1194329339 CA406635093	354	Q>*		No	ClinGen gnomAD
rs1187392356 CA406635106	355	Q>H		No	ClinGen gnomAD
CA406635099 rs1443039339	355	Q>K		No	ClinGen gnomAD
rs761581969 CA406635116	357	A>E		No	ClinGen ExAC TOPMed gnomAD
CA406635114 rs892666849	357	A>S		No	ClinGen TOPMed gnomAD
CA309252279 rs892666849	357	A>T		No	ClinGen TOPMed gnomAD
CA9543443 rs761581969 COSM1559541	357	A>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA309252301 rs1044379938	359	R>Q		No	ClinGen Ensembl
rs772991567 CA9543445	359	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9543446 rs762667382	360	A>T		No	ClinGen ExAC gnomAD
rs1411612954 CA406635131	360	A>V		No	ClinGen TOPMed
rs1434796894 CA406635132	361	A>T		No	ClinGen TOPMed gnomAD
CA9543450 rs200208997	362	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756155775 CA9543449	362	R>W		No	ClinGen ExAC TOPMed gnomAD
rs779018964 CA9543453	364	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs757433960 CA9543452	364	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1210176623 CA406635189	369	F>L		No	ClinGen TOPMed gnomAD
CA9543454 rs370561439	370	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA406635193 rs1278288257	370	R>W		No	ClinGen gnomAD
CA309252386 rs1025381847	372	R>C		No	ClinGen gnomAD
CA309252405 rs951296972	372	R>H		No	ClinGen gnomAD
rs747572588 CA9543457	373	G>E		No	ClinGen ExAC TOPMed gnomAD
CA9543456 rs780677965	373	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1172403709 CA406635242	375	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1421391634 CA406635294	379	A>V		No	ClinGen gnomAD
CA309252438 rs939353251	380	L>M		No	ClinGen TOPMed gnomAD
rs768272071 CA309252448	381	R>K		No	ClinGen ExAC gnomAD
rs768272071 CA9543458	381	R>M		No	ClinGen ExAC gnomAD
rs768272071 CA406635309	381	R>T		No	ClinGen ExAC gnomAD
rs11538665 CA309252457	383	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA406635328 rs1233882310	383	A>S		No	ClinGen gnomAD
CA9543460 rs11538665 COSM1559542	383	A>V	large_intestine central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA406635348 rs1239912288	385	L>M		No	ClinGen gnomAD
rs1043879508 CA9543462	386	A>V		No	ClinGen TOPMed
CA309252514 rs769427571	387	R>L		No	ClinGen ExAC TOPMed gnomAD
rs769427571 CA9543464	387	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs889268395 CA309252496	387	R>W		No	ClinGen TOPMed gnomAD
CA309252526 rs772758737	388	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9543467 rs770751827	388	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9543466 rs772758737	388	R>W		No	ClinGen ExAC TOPMed gnomAD
CA309252556 rs995122534	389	Q>*		No	ClinGen TOPMed
rs1363096269 CA406635389	389	Q>H		No	ClinGen gnomAD
rs1804994 CA406635385	389	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1804994 CA9543468 VAR_011486	389	Q>R		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs759527308 CA9543469	390	R>G		No	ClinGen ExAC
CA309252616 rs1025817591	391	R>Q		No	ClinGen TOPMed
rs767447564 CA9543470 COSM1208355	391	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1379479561 CA406635416	392	R>L		No	ClinGen TOPMed gnomAD
rs1379479561 CA406635412	392	R>Q		No	ClinGen TOPMed gnomAD
CA9543472 rs753897378	392	R>W		No	ClinGen ExAC TOPMed gnomAD
rs761823703 CA9543473	393	Q>H		No	ClinGen ExAC gnomAD
rs1315585474 CA406635440	394	A>V		No	ClinGen TOPMed gnomAD
CA309252641 rs1016797477	395	R>L		No	ClinGen TOPMed gnomAD
rs1016797477 CA406635447	395	R>Q		No	ClinGen TOPMed gnomAD
rs1005811039 CA309252638	395	R>W		No	ClinGen TOPMed gnomAD
rs1250736001 CA406635456	396	R>Q		No	ClinGen TOPMed gnomAD
CA406635454 rs1212258570	396	R>W		No	ClinGen TOPMed gnomAD
CA406635467 rs1177208616	397	E>G		No	ClinGen gnomAD
CA406635479 rs1249244599	398	A>S		No	ClinGen gnomAD
CA9543475 rs8634	401	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA309252650 rs530245888	401	D>E		No	ClinGen 1000Genomes
CA9543474 rs765461126	401	D>N		No	ClinGen ExAC gnomAD
CA309252651 rs976569797	402	K>E		No	ClinGen TOPMed gnomAD
rs1402657981 CA406635528	402	K>R		No	ClinGen TOPMed gnomAD
rs1034893375 CA309252652	403	P>A		No	ClinGen gnomAD
CA9543476 rs758816567	403	P>L		No	ClinGen ExAC TOPMed gnomAD
rs988121746 CA309252655	404	R>*		No	ClinGen gnomAD
rs988121746 CA406635545	404	R>G		No	ClinGen gnomAD
rs913993366 CA309252664	404	R>Q		No	ClinGen gnomAD
CA9543478 rs780626837	405	R>K		No	ClinGen ExAC gnomAD
CA9543477 rs780626837	405	R>M		No	ClinGen ExAC gnomAD
rs1294416229 CA406635554	405	R>W		No	ClinGen gnomAD
rs1260399469 CA406635558	406	L>M		No	ClinGen gnomAD
rs1308849979 CA406635566	407	G>W		No	ClinGen gnomAD
rs979904476 CA309252675	408	R>Q		No	ClinGen gnomAD
rs563743000 CA9543480	408	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA309253042 rs1038093853	414	P>L		No	ClinGen TOPMed
CA309253028 rs980724483	414	P>S		No	ClinGen TOPMed gnomAD
rs980724483 CA406635693	414	P>T		No	ClinGen TOPMed gnomAD
CA406635712 rs1223181907	415	D>E		No	ClinGen TOPMed gnomAD
rs1351255215 CA406635701	415	D>N		No	ClinGen gnomAD
rs1336651003 CA406635720	416	I>T		No	ClinGen gnomAD
rs775478523 CA9543506	416	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1289391080 CA406635726	417	D>N		No	ClinGen TOPMed
CA406635741 rs1467314500	418	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	421	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	421	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9543510 rs763134152	422	S>L		No	ClinGen ExAC TOPMed gnomAD
rs774742805 CA9543512	425	T>A		No	ClinGen ExAC gnomAD
TCGA novel	426	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs115908259 CA9543513	427	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA309253090 rs1049750063	429	R>G		No	ClinGen TOPMed gnomAD
rs1390298888 CA406635910	429	R>S		No	ClinGen TOPMed
rs764675003 CA9543517	431	L>R		No	ClinGen ExAC TOPMed gnomAD
CA406635949 rs1440903637	432	K>E		No	ClinGen gnomAD
CA406636088 rs1264677647	433	P>T		No	ClinGen gnomAD
CA9543563 rs377217052	434	E>K	Variant assessed as Somatic; 4.657e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA406636102 rs377217052	434	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1455443350 CA406636131	436	N>S		No	ClinGen gnomAD
rs199555316 CA9543564	437	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1568601267 CA406636153	438	L>F		No	ClinGen Ensembl
COSM998805 rs929206959 CA309254127	439	R>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA9543566 rs752675164	439	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9543565 rs752675164	439	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs772234891 CA9543569	441	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9543567 rs777866172 COSM3787737	441	R>W	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs780118982 CA9543570	442	F>V		No	ClinGen ExAC gnomAD
CA9543571 rs747316019	443	K>E		No	ClinGen ExAC gnomAD
rs1235448557 CA406636206	443	K>R		No	ClinGen gnomAD
rs1274209575 CA406636240	445	F>L		No	ClinGen gnomAD
rs1289498588 CA406636292	449	N>S		No	ClinGen TOPMed
CA309254166 rs138025379	451	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367817798 CA9543573	452	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs141718194 COSM2150923 CA9543574	454	R>*	Variant assessed as Somatic; 4.646e-05 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs141718194 CA406636349	454	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1195946495 CA406636352 COSM1208358	454	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs770241150 CA9543575	456	R>S		No	ClinGen ExAC gnomAD
TCGA novel	457	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779344338 CA9543576	457	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9543601 rs143776777	460	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs764039740 CA9543602 COSM42838	461	R>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9543604 rs148148148	461	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9543605 rs148148148	461	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9543603 rs764039740	461	R>S		No	ClinGen ExAC TOPMed gnomAD
CA9543607 rs751613426	468	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9543606 rs751613426	468	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	469	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406636558 rs1182012736	469	E>G		No	ClinGen TOPMed
CA406636548 rs1464682801	469	E>Q		No	ClinGen gnomAD
CA406636571 rs1311536912	470	K>R		No	ClinGen gnomAD
rs371370344 CA9543609	471	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs781357299 CA9543608	471	R>W		No	ClinGen ExAC gnomAD
rs756454322 COSM1190099 CA9543610	472	A>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1455641575 CA406636609	473	F>L		No	ClinGen TOPMed gnomAD
rs749617639 CA9543612	474	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs771411047 CA9543613	474	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA406636736 rs1472558875	478	L>S		No	ClinGen TOPMed gnomAD
TCGA novel	479	L>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q9NZM5

3 regional properties for Q9NZM5

Type	Name	Position	InterPro Accession
domain	FKBP-type peptidyl-prolyl cis-trans isomerase domain	157 - 215	IPR001179
domain	Trigger factor, C-terminal	258 - 416	IPR008880
domain	Trigger factor, ribosome-binding, bacterial	1 - 145	IPR008881

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleolus Nucleus, nucleoplasm	In the nucleolus may be more specifically localized to the fibrillar center (PubMed:27729611) Mainly nucleolar it relocalizes to the nucleoplasm under specific conditions including ribosomal stress enabling it to interact and regulate nucleoplasmic proteins like p53/TP53 (PubMed:22522597, PubMed:24923447, PubMed:26903295, PubMed:27323397) Also detected in the cytosol (PubMed:24923447, PubMed:27824081)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
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.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
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.

4 GO annotations of molecular function

Name	Definition
5S rRNA binding	Binding to a 5S ribosomal RNA, the smallest RNA constituent of a ribosome.
identical protein binding	Binding to an identical protein or proteins.
p53 binding	Binding to one of the p53 family of proteins.
RNA binding	Binding to an RNA molecule or a portion thereof.

24 GO annotations of biological process

Name	Definition
cellular response to DNA damage stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
cellular response to hypoxia	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
mitotic G2 DNA damage checkpoint signaling	A mitotic cell cycle checkpoint that detects and negatively regulates progression through the G2/M transition of the cell cycle in response to DNA damage.
negative regulation of phosphatidylinositol 3-kinase signaling	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
negative regulation of proteasomal ubiquitin-dependent protein catabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
negative regulation of protein kinase B signaling	Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
negative regulation of protein-containing complex assembly	Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly.
negative regulation of signal transduction by p53 class mediator	Any process that stops, prevents or reduces the frequency, rate or extent of signal transduction by p53 class mediator.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
negative regulation of transcription of nucleolar large rRNA by RNA polymerase I	Any process that stops, prevents or reduces the frequency, rate or extent of transcription of nuclear large rRNA transcript mediated by RNA polymerase I.
positive regulation of proteasomal ubiquitin-dependent protein catabolic process	Any process that activates or increases the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
positive regulation of protein K63-linked deubiquitination	Any process that activates or increases the frequency, rate or extent of protein K63-linked deubiquitination.
protein localization to nucleolus	A process in which a protein is transported to, or maintained in, a location within a nucleolus.
protein localization to nucleoplasm	A process in which a protein is transported to, or maintained in, a location within the nucleoplasm.
protein stabilization	Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.
regulation of aerobic respiration	Any process that modulates the frequency, rate or extent of aerobic respiration.
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of protein phosphorylation	Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein.
regulation of RIG-I signaling pathway	Any process that modulates the frequency, rate or extent of the RIG-I signaling pathway.
regulation of signal transduction by p53 class mediator	Any process that modulates the frequency, rate or extent of signal transduction by p53 class mediator.
ribosomal large subunit assembly	The aggregation, arrangement and bonding together of constituent RNAs and proteins to form the large ribosomal subunit.
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
Q9W3C2	CG1785	Ribosome biogenesis protein NOP53	Drosophila melanogaster (Fruit fly)	PR

10	20	30	40	50	60
MAAGGSGVGG	KRSSKSDADS	GFLGLRPTSV	DPALRRRRRG	PRNKKRGWRR	LAQEPLGLEV
70	80	90	100	110	120
DQFLEDVRLQ	ERTSGGLLSE	APNEKLFFVD	TGSKEKGLTK	KRTKVQKKSL	LLKKPLRVDL
130	140	150	160	170	180
ILENTSKVPA	PKDVLAHQVP	NAKKLRRKEQ	LWEKLAKQGE	LPREVRRAQA	RLLNPSATRA
190	200	210	220	230	240
KPGPQDTVER	PFYDLWASDN	PLDRPLVGQD	EFFLEQTKKK	GVKRPARLHT	KPSQAPAVEV
250	260	270	280	290	300
APAGASYNPS	FEDHQTLLSA	AHEVELQRQK	EAEKLERQLA	LPATEQAATQ	ESTFQELCEG
310	320	330	340	350	360
LLEESDGEGE	PGQGEGPEAG	DAEVCPTPAR	LATTEKKTEQ	QRRREKAVHR	LRVQQAALRA
370	380	390	400	410	420
ARLRHQELFR	LRGIKAQVAL	RLAELARRQR	RRQARREAEA	DKPRRLGRLK	YQAPDIDVQL
430	440	450	460	470
SSELTDSLRT	LKPEGNILRD	RFKSFQRRNM	IEPRERAKFK	RKYKVKLVEK	RAFREIQL