AiPD: Autoinhibited Protein Database

O43159

Gene name	RRP8 (KIAA0409, NML, hucep-1)
Protein name	Ribosomal RNA-processing protein 8
Names	Cerebral protein 1, Nucleomethylin
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23378
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

11-211 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

11-211 (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

2 structures for O43159

Entry ID	Method	Resolution	Chain	Position	Source
2ZFU	X-ray	200 A	A/B	242-456	PDB
AF-O43159-F1	Predicted				AlphaFoldDB

493 variants for O43159

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs759913983 RCV001291458 CA5857603	268	R>H	Autism spectrum disorder [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs761315233 CA5857889	4	E>A		No	ClinGen ExAC gnomAD
CA379450572 rs775967786	4	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1423172745 CA379450550	5	P>R		No	ClinGen gnomAD
rs1564839038 CA379450560	5	P>T		No	ClinGen Ensembl
CA379450475 rs1181802227	7	W>*		No	ClinGen TOPMed gnomAD
CA379450460 rs1459104429	8	A>S		No	ClinGen gnomAD
CA5857886 rs759821467	9	E>*		No	ClinGen ExAC TOPMed gnomAD
rs542041353 CA5857884	10	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5857885 rs774650029	10	A>T		No	ClinGen ExAC gnomAD
rs542041353 CA379450365	10	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379450336 rs1359310768	11	A>S		No	ClinGen gnomAD
CA217311268 rs990863254	12	P>A		No	ClinGen TOPMed
rs372093021 CA5857881	12	P>L		No	ClinGen ExAC gnomAD
CA379450299 rs990863254	12	P>S		No	ClinGen TOPMed
CA5857880 rs748147961	14	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5857878 rs754773299	17	L>P		No	ClinGen ExAC gnomAD
CA379450119 rs1293870449	18	G>W		No	ClinGen gnomAD
rs751156527 CA5857877	19	P>R		No	ClinGen ExAC gnomAD
CA379450092 rs1205755734	19	P>S		No	ClinGen TOPMed
CA217311244 rs995550924	20	V>L		No	ClinGen TOPMed gnomAD
rs150400506 CA5857875	21	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764700545 CA5857873	22	S>L		No	ClinGen ExAC gnomAD
rs749917411 CA5857874	22	S>P		No	ClinGen ExAC gnomAD
CA379449949 rs1269786365	23	R>*		No	ClinGen TOPMed gnomAD
rs988625707 CA217311232	24	P>S		No	ClinGen Ensembl
rs1490277553 CA379449905	25	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs2659860 RCV000953453 CA5857872	25	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA379449888 rs1219357981	26	P>L		No	ClinGen gnomAD
rs767924474 CA5857870	27	A>V		No	ClinGen ExAC gnomAD
CA5857867 rs151324847	29	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA5857868 rs151324847	29	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA5857866 rs375875643	30	S>*		No	ClinGen ESP ExAC gnomAD
CA379449802 rs1589919623	30	S>P		No	ClinGen Ensembl
rs375875643 CA379449785	30	S>W		No	ClinGen ESP ExAC gnomAD
rs1589919594 CA379449739	31	Q>P		No	ClinGen Ensembl
rs769930522 CA5857864	32	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1175861769 CA379449706	32	N>S		No	ClinGen gnomAD
CA5857863 rs748014901	33	K>R		No	ClinGen ExAC gnomAD
CA5857816 rs142424203	34	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs749009697 CA5857817	34	G>S		No	ClinGen ExAC TOPMed gnomAD
CA217310679 rs142424203	34	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1327236261 CA379448855	36	K>R		No	ClinGen gnomAD
CA5857813 rs769194976	37	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5857812 rs371531443	37	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5857811 rs146487650	38	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5857810 COSM930755 rs758749897	38	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA379448768 rs1483420741	41	L>V		No	ClinGen TOPMed
rs779298923 CA5857808	42	A>T		No	ClinGen ExAC gnomAD
rs375134578 CA5857807	42	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs572375783 CA5857805	43	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1472363052 CA379448713	43	T>I		No	ClinGen TOPMed
CA5857804 rs182558656	45	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5857802 rs752628806	45	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5857803 rs182558656	45	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5857800 rs759554854	46	A>S		No	ClinGen ExAC TOPMed gnomAD
CA379448673 rs759554854	46	A>T		No	ClinGen ExAC TOPMed gnomAD
CA379448654 rs1277955327	46	A>V		No	ClinGen TOPMed gnomAD
rs1023534416 CA217310656	47	L>P		No	ClinGen Ensembl
CA5857799 rs774278994	47	L>V		No	ClinGen ExAC TOPMed gnomAD
CA379448637 rs1589916942	48	E>G		No	ClinGen Ensembl
rs770921004 CA5857798	48	E>Q		No	ClinGen ExAC gnomAD
CA379448618 rs1589916917	49	A>P		No	ClinGen Ensembl
rs201919622 CA5857796	49	A>V		No	ClinGen ExAC TOPMed
rs1417948977 CA379448546	51	S>F		No	ClinGen gnomAD
rs1004823717 CA217310639	51	S>P		No	ClinGen TOPMed gnomAD
CA5857793 rs780795368	52	L>V		No	ClinGen ExAC gnomAD
CA5857792 rs772436414	53	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA379448525 rs1589916872	53	S>P		No	ClinGen Ensembl
CA379448520 rs772436414	53	S>Y		No	ClinGen ExAC gnomAD
rs746432837 CA5857791	54	Q>H		No	ClinGen ExAC gnomAD
rs1474365089 CA379448479	55	H>R		No	ClinGen gnomAD
CA379448470 rs575858025	56	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5857790 rs575858025	56	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1261294757 CA379448453	57	P>R		No	ClinGen gnomAD
CA5857789 rs201951445	57	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1564836940	58	S>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs753999999 CA5857788	58	S>G		No	ClinGen ExAC TOPMed
CA379448428 rs1316373292	58	S>R		No	ClinGen gnomAD
rs190461845 CA5857787	58	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1272507024 CA379448412	59	L>P		No	ClinGen TOPMed
CA5857786 rs756175506	60	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1403539099 CA379448349	63	D>N		No	ClinGen gnomAD
CA379448341 rs1488044295	63	D>V		No	ClinGen gnomAD
rs748218611 CA5857783	66	E>K		No	ClinGen ExAC gnomAD
CA5857782 rs759546107	67	E>K		No	ClinGen ExAC gnomAD
rs1564836862 CA379448257	69	E>G		No	ClinGen Ensembl
rs1342865558 CA379448262	69	E>K		No	ClinGen gnomAD
rs200610838 CA217310624	73	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs200096744 CA5857777	75	C>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5857778 rs766221737	75	C>R		No	ClinGen ExAC gnomAD
CA379448143 rs1481278620	76	P>S		No	ClinGen Ensembl
CA5857775 rs144325798	77	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761576252 CA5857774	78	K>N		No	ClinGen ExAC gnomAD
CA379448087 rs746306115	79	A>E		No	ClinGen ExAC gnomAD
rs768278894 CA5857772	79	A>P		No	ClinGen ExAC TOPMed gnomAD
rs768278894 CA5857773	79	A>S		No	ClinGen ExAC TOPMed gnomAD
rs768278894 CA217310610	79	A>T		No	ClinGen ExAC TOPMed gnomAD
rs746306115 CA5857771	79	A>V		No	ClinGen ExAC gnomAD
CA379448075 rs1324509743	80	S>*		No	ClinGen gnomAD
CA379448056 rs1221943546	82	A>P		No	ClinGen gnomAD
rs774851727 CA5857770	84	A>S		No	ClinGen ExAC gnomAD
CA5857769 rs375791527	85	S>P		No	ClinGen ESP ExAC gnomAD
rs749681682 CA5857768	86	A>G		No	ClinGen ExAC gnomAD
CA379448005 rs1304050749	87	E>*		No	ClinGen TOPMed gnomAD
CA217310601 rs1057051219	87	E>A		No	ClinGen gnomAD
CA379447987 rs1334243102	88	V>A		No	ClinGen gnomAD
CA379447995 rs1564836753	88	V>I		No	ClinGen Ensembl
rs1366403677 CA379447982	89	G>R		No	ClinGen TOPMed
rs1296051892 CA379447944	91	K>R		No	ClinGen TOPMed
rs1169563811 CA379447930	92	G>A		No	ClinGen gnomAD
TCGA novel	94	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748472636 CA5857763	95	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1461793532 CA379447880	96	C>R		No	ClinGen gnomAD
CA5857762 rs781070667	96	C>Y		No	ClinGen ExAC gnomAD
CA379447860 rs1201939025	97	Q>*		No	ClinGen gnomAD
CA5857760 rs140361064	99	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs755124703 CA5857761	99	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA379447791 rs1306250227	101	P>L		No	ClinGen gnomAD
CA379447779 rs1266596502	102	P>L		No	ClinGen Ensembl
CA379447789 rs1466099985	102	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA379447787 rs1466099985	102	P>T		No	ClinGen TOPMed
rs758451843 CA5857758	103	C>W		No	ClinGen ExAC TOPMed gnomAD
CA5857757 rs750163324	104	S>G		No	ClinGen ExAC gnomAD
rs765138753 CA5857756 CA217310581	105	D>E		No	ClinGen ExAC gnomAD
rs1334140149 CA379447743	105	D>G		No	ClinGen gnomAD
rs776350624 CA5857755	106	S>P		No	ClinGen ExAC gnomAD
CA5857754 rs776350624	106	S>T		No	ClinGen ExAC gnomAD
CA379447721 rs1460232961	107	E>K		No	ClinGen gnomAD
CA379447719 rs1460232961	107	E>Q		No	ClinGen gnomAD
rs1389556116 CA379447675	109	E>V		No	ClinGen TOPMed
rs867669642 CA379447659	110	V>A		No	ClinGen Ensembl
rs867669642 CA217310572	110	V>G		No	ClinGen Ensembl
rs774796677 CA5857751	110	V>L		No	ClinGen ExAC gnomAD
CA5857750 rs143875693	112	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1181899394 CA379447595	114	K>N		No	ClinGen gnomAD
CA5857749 rs749839727	114	K>Q		No	ClinGen ExAC gnomAD
rs369557794 CA5857748	116	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA379447546 rs1251580584	117	H>R		No	ClinGen gnomAD
CA379447519 rs867255416	119	Q>E		No	ClinGen Ensembl
rs867255416 CA217310562	119	Q>K		No	ClinGen Ensembl
CA5857746 rs748263013	120	A>P		No	ClinGen ExAC gnomAD
CA5857745 rs781502115	120	A>V		No	ClinGen ExAC gnomAD
CA379447459 rs1589916307	123	G>V		No	ClinGen Ensembl
CA379447426 rs1366320434	126	S>C		No	ClinGen TOPMed
rs1383686073 CA379447419	127	A>P		No	ClinGen gnomAD
rs1383686073 CA379447417	127	A>T		No	ClinGen gnomAD
rs1365161946 CA379447362	130	E>D		No	ClinGen TOPMed
TCGA novel	132	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	132	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5857740 rs758398478	133	K>Q		No	ClinGen ExAC gnomAD
rs753382551 CA5857736	139	H>L		No	ClinGen ExAC TOPMed gnomAD
rs753382551 CA379447230	139	H>P		No	ClinGen ExAC TOPMed gnomAD
CA217310552 rs868243905	139	H>Q		No	ClinGen Ensembl
CA379447216 rs1161727894	140	A>D		No	ClinGen gnomAD
rs1161727894 CA379447214	140	A>G		No	ClinGen gnomAD
CA5857734 rs760357523	141	P>S		No	ClinGen ExAC gnomAD
rs1181277615 CA379447195	142	I>V		No	ClinGen gnomAD
CA379447186 rs1320020136	143	N>Y		No	ClinGen TOPMed
CA5857731 RCV000962108 VAR_051034 rs11040934	145	A>P		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5857732 rs11040934	145	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1200686120 CA379447151	145	A>V		No	ClinGen gnomAD
rs773787308 CA379447042	150	N>I		No	ClinGen ExAC TOPMed gnomAD
CA5857730 rs773787308	150	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1290157078 CA379447036	151	V>I		No	ClinGen gnomAD
CA379446992 rs1207440743	153	Q>*		No	ClinGen TOPMed gnomAD
rs1207440743 CA379446997	153	Q>K		No	ClinGen TOPMed gnomAD
TCGA novel	156	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5857695 rs755920680	158	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1243227630 CA379446706	159	W>R		No	ClinGen gnomAD
rs1459748149 CA379446637	161	G>D		No	ClinGen gnomAD
rs752302248 CA5857694	161	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5857692 rs754630383	162	S>G		No	ClinGen ExAC TOPMed gnomAD
CA379446603 rs1338530901	162	S>R		No	ClinGen gnomAD
CA379446611 rs1363005758	162	S>T		No	ClinGen TOPMed
rs969349975 CA379446576	163	T>I		No	ClinGen TOPMed gnomAD
CA217310340 rs969349975	163	T>S		No	ClinGen TOPMed gnomAD
rs1460195449 CA379446569	164	T>A		No	ClinGen gnomAD
rs1248083884 CA379446543	165	N>D		No	ClinGen TOPMed gnomAD
CA5857691 rs751059308	165	N>S		No	ClinGen ExAC TOPMed gnomAD
rs142207265 CA5857690	166	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142207265 CA5857689	166	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379446507 rs1452181550	167	P>A		No	ClinGen gnomAD
rs754402097 CA5857688	167	P>L		No	ClinGen ExAC gnomAD
CA379446509 rs1452181550	167	P>T		No	ClinGen gnomAD
rs1331262189 CA379446493	168	P>S		No	ClinGen gnomAD
rs775812660 CA5857685	169	K>Q		No	ClinGen ExAC gnomAD
CA379446458 rs1334594022	170	Q>*		No	ClinGen TOPMed
rs377234642 CA217310324	170	Q>R		No	ClinGen gnomAD
rs138694575 CA5857683	173	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA5857684 rs767746973	173	G>W		No	ClinGen ExAC gnomAD
CA5857682 rs145989544	174	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379446346 rs1234304469	175	T>I		No	ClinGen gnomAD
rs1030889862 CA217310322	176	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
COSM689899 rs749154427 CA5857680	177	P>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA379446284 rs1193126153	178	K>E		No	ClinGen TOPMed
CA379446266 rs1224610239 CA379446268	178	K>N		No	ClinGen gnomAD
CA5857679 rs377406869	179	P>S		No	ClinGen ExAC TOPMed gnomAD
CA379446263 rs377406869	179	P>T		No	ClinGen ExAC TOPMed gnomAD
CA379446246 rs1292545865	180	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5857678 rs769541265	182	T>I		No	ClinGen ExAC gnomAD
CA5857676 rs200715606	185	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374541016 CA5857674	185	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs374541016 CA5857675	185	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1427107209 CA379446139	186	K>E		No	ClinGen gnomAD
rs1417486534 CA379446119	187	Q>*		No	ClinGen TOPMed
rs779551074 CA5857673	187	Q>P		No	ClinGen ExAC gnomAD
rs967428770 CA217310285	188	W>*		No	ClinGen Ensembl
rs192078857 CA5857671	189	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1638936 rs199542011 CA5857672	189	R>W	stomach [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs148100776 CA5857669	191	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs142862258 CA5857670	191	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1469361564 CA379446061	192	Q>E		No	ClinGen gnomAD
rs1249339205 CA379446030	193	K>N		No	ClinGen gnomAD
CA379446025 rs1201364840	194	N>D		No	ClinGen TOPMed gnomAD
CA379446014 rs2288283	194	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753085836 CA5857668	194	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1201364840 CA379446024	194	N>Y		No	ClinGen TOPMed gnomAD
CA379445990 rs1319936369	196	R>K		No	ClinGen gnomAD
TCGA novel	197	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379445978 rs1198839705	197	R>K		No	ClinGen gnomAD
CA5857666 rs759797658	198	C>R		No	ClinGen ExAC gnomAD
CA5857665 rs567830524	198	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	199	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379445937 rs1589915614	200	N>D		No	ClinGen Ensembl
TCGA novel	201	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5857663 rs763055185	201	K>E		No	ClinGen ExAC TOPMed gnomAD
CA379445882 CA217310268 rs1047332693	203	Q>H		No	ClinGen TOPMed gnomAD
rs773324145 CA5857662	204	P>L		No	ClinGen ExAC gnomAD
CA379445878 rs773324145	204	P>Q		No	ClinGen ExAC gnomAD
rs1280031844 CA379445868	205	P>R		No	ClinGen TOPMed
rs769700128 CA5857661	206	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1312329604 CA379444789	206	Q>H		No	ClinGen gnomAD
CA379444772 rs748141989	207	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5857660 rs748141989	207	V>M		No	ClinGen ExAC TOPMed gnomAD
rs757940157 CA5857654	212	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs923047720 CA217308744	212	P>R		No	ClinGen TOPMed
CA5857655 rs757940157	212	P>S		No	ClinGen ExAC gnomAD
rs527779708 CA217308736	213	A>P		No	ClinGen 1000Genomes
CA379444614 rs1486842993	215	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1216641054	217	T>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA379444567 rs1379526344	217	T>I		No	ClinGen TOPMed gnomAD
rs1379526344 CA379444571	217	T>K		No	ClinGen TOPMed gnomAD
COSM1293113 rs974485281 CA217308714	223	S>P	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs943067620 CA217308710	224	P>L		No	ClinGen TOPMed gnomAD
rs138964113 CA5857648	225	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5857650 rs781550979	225	V>I		No	ClinGen ExAC gnomAD
CA5857649 rs781550979	225	V>L		No	ClinGen ExAC gnomAD
rs766481289 CA5857646	226	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5857645 rs763214810	228	T>S		No	ClinGen ExAC gnomAD
rs750490267 CA5857644 COSM1194168	229	D>G	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1334346088 CA379444283	230	S>R		No	ClinGen TOPMed
rs1338223993 CA379444263	231	H>D		No	ClinGen gnomAD
CA5857642 rs146897402	232	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	232	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5857641 rs146897402	232	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs527676627 CA5857639 COSM171404	234	R>Q	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs776447418 CA5857640	234	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1209395459 CA379444170	235	A>E		No	ClinGen TOPMed
TCGA novel	235	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201406950 CA5857637	237	A>D		No	ClinGen 1000Genomes ExAC gnomAD
CA379444138 rs1185884241	237	A>S		No	ClinGen gnomAD
rs1185884241 CA379444140	237	A>T		No	ClinGen gnomAD
rs201406950 CA5857638	237	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA5857636 rs745570524	239	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5857635 rs745570524	239	R>G		No	ClinGen ExAC TOPMed gnomAD
rs531571871 CA5857634	239	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5857633 rs770567575 COSM168148	240	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5857632 rs748627889	241	R>C		No	ClinGen ExAC gnomAD
rs142606127 COSM930751 CA5857631	241	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs142606127 CA5857630	241	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758615932 CA5857627	242	M>T		No	ClinGen ExAC gnomAD
CA5857628 rs573529126	242	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA5857624 rs199533609	245	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5857625 rs368330293	245	R>W	Variant assessed as Somatic; 0.0001874 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5857623 rs145507676	247	D>V		No	ClinGen ESP ExAC gnomAD
CA5857621 rs760716079	250	R>*		No	ClinGen ExAC TOPMed gnomAD
rs760716079 CA379443893	250	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5857620 rs775133121	250	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA379443835 rs1388396484	252	R>C		No	ClinGen gnomAD
CA5857619 rs758710501	252	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5857618 rs370491178	253	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA379443785 rs1483274971	254	L>P		No	ClinGen gnomAD
rs774157861 CA5857617	255	N>D		No	ClinGen ExAC gnomAD
rs770514260 CA5857616	255	N>S		No	ClinGen ExAC gnomAD
rs1340753867 CA379443730	257	Q>L		No	ClinGen gnomAD
CA5857614 rs772829540	258	L>F		No	ClinGen ExAC TOPMed gnomAD
CA379443704 rs1293289586	258	L>S		No	ClinGen gnomAD
CA217308528 rs964135130	259	Y>*		No	ClinGen Ensembl
rs1048096744 CA217308533	259	Y>C		No	ClinGen TOPMed
rs1339389037 CA379443680	259	Y>N		No	ClinGen gnomAD
CA379443631 rs1310087883	260	S>L		No	ClinGen gnomAD
CA379443641 rs1232673434	260	S>P		No	ClinGen TOPMed
rs747622196 CA5857611	261	G>A		No	ClinGen ExAC
CA5857612 rs747622196	261	G>E		No	ClinGen ExAC
rs769033822 CA5857613	261	G>R		No	ClinGen ExAC gnomAD
rs539994234 CA5857608	262	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA379443562 rs1427707965	263	S>R		No	ClinGen TOPMed gnomAD
CA217308485 rs1018398046	264	S>G		No	ClinGen Ensembl
rs1230783061 COSM1561653 CA379443549	264	S>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs746042286 CA379443528	265	A>S		No	ClinGen ExAC gnomAD
rs746042286 CA5857607	265	A>T		No	ClinGen ExAC gnomAD
rs1164153259 CA379443517	265	A>V		No	ClinGen gnomAD
rs765563514 CA5857606	266	A>S		No	ClinGen ExAC TOPMed gnomAD
rs765563514 CA379443512	266	A>T		No	ClinGen ExAC TOPMed gnomAD
CA379443499 rs1367967710	266	A>V		No	ClinGen gnomAD
rs757536825 CA5857605	267	Q>*		No	ClinGen ExAC gnomAD
CA379443479 rs1480405747	267	Q>R		No	ClinGen TOPMed
rs748113796 CA5857604	268	R>C		No	ClinGen ExAC TOPMed gnomAD
CA379443290 rs1354959260	275	E>K		No	ClinGen gnomAD
rs375883769 CA5857599	276	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs766110083 CA5857597	278	L>I		No	ClinGen ExAC gnomAD
CA5857596 rs140802276	279	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs769351985 CA5857594	280	Y>*		No	ClinGen ExAC gnomAD
CA379443203 rs1347192247	280	Y>H		No	ClinGen gnomAD
CA379443173 rs1386151963	281	H>Y		No	ClinGen gnomAD
CA5857593 rs747416881	282	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5857592 rs150955423	282	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel CA379443125 rs1589915328	283	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs746198269 CA5857590	283	G>S		No	ClinGen ExAC gnomAD
rs1372034367 CA379443083	286	S>G		No	ClinGen TOPMed
rs772880785 CA217308379	288	V>L		No	ClinGen Ensembl
CA379442964 rs1200710600	289	K>N		No	ClinGen gnomAD
CA217308368 rs898704199	289	K>R		No	ClinGen TOPMed gnomAD
rs1311164409 CA379442916	291	W>*		No	ClinGen gnomAD
CA5857587 rs749590193	291	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1264614737 CA379442890	292	P>L		No	ClinGen gnomAD
CA379442860 rs1267049639	294	Q>*		No	ClinGen gnomAD
rs756228255 CA5857585	294	Q>R		No	ClinGen ExAC gnomAD
rs752630159 CA5857584	295	P>L		No	ClinGen ExAC
TCGA novel	297	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5857582 rs557521273	298	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142528867 CA5857581	298	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142528867 CA379442763	298	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142528867 CA5857580	298	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1329315058 CA379442743	299	I>T		No	ClinGen gnomAD
CA5857579 rs201349992	299	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379442718 rs1389509194	300	A>G		No	ClinGen gnomAD
CA5857577 rs200483016	300	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM241477 rs200483016 CA5857576	300	A>T	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs148726260 CA5857573	301	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5857574 rs377558186	301	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs144427389 CA5857571	304	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5857570 COSM1509638 rs373412100	304	R>H	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1260364550 CA379442612	305	Q>R		No	ClinGen TOPMed
rs202166500 CA379442589	306	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202166500 CA5857568	306	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778075365 CA5857569	306	R>W		No	ClinGen ExAC TOPMed gnomAD
CA217308193 rs1026106675	308	A>P		No	ClinGen TOPMed gnomAD
TCGA novel	308	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5857543 rs781358266	308	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5857542 rs768874713	311	V>A		No	ClinGen ExAC gnomAD
CA379442420 rs1413069349	311	V>M		No	ClinGen TOPMed
CA379442372 rs1564835469	314	D>N		No	ClinGen Ensembl
CA379442278 rs780072733	316	G>R		No	ClinGen ExAC gnomAD
CA5857540 rs780072733	316	G>S		No	ClinGen ExAC gnomAD
rs1589915127 CA379442197	317	C>W		No	ClinGen Ensembl
CA379442117 rs750208056	319	D>G		No	ClinGen ExAC gnomAD
CA5857538 rs750208056	319	D>V		No	ClinGen ExAC gnomAD
CA5857539 rs758310541	319	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA217308150 rs143499349	320	C>R		No	ClinGen ESP
rs139950161 CA5857537	321	R>C	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5857536 rs146000679	321	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379442023 rs146000679	321	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5857535 rs753492747	323	A>S		No	ClinGen ExAC gnomAD
rs112294029 CA5857534	325	S>G		No	ClinGen ExAC gnomAD
rs760197634 CA5857533	325	S>T		No	ClinGen ExAC gnomAD
rs751968118 CA5857532	326	I>V		No	ClinGen ExAC gnomAD
CA217308119 rs766876049	327	R>G		No	ClinGen ExAC gnomAD
rs200201140 CA5857530 COSM3383741	327	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs766876049 CA5857531	327	R>W	Variant assessed as Somatic; 0.000231 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1290750796 CA379441761	328	N>S		No	ClinGen gnomAD
rs17834692 CA5857529	329	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs17834692 VAR_051035 CA5857528 COSM3687547	329	P>S	large_intestine [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA217308108 rs138239906	330	V>M		No	ClinGen ESP TOPMed gnomAD
CA217308106 rs945107161	331	H>R		No	ClinGen TOPMed gnomAD
CA379441674 rs1410770318	332	C>*		No	ClinGen TOPMed gnomAD
rs762073638 CA5857527	333	F>S		No	ClinGen ExAC gnomAD
CA5857526 rs777015819	337	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1322384334 CA379441486	338	L>R		No	ClinGen gnomAD
rs1349947979 CA379441515	338	L>V		No	ClinGen gnomAD
rs150846415 CA5857523	340	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745859491 CA5857522	341	R>G		No	ClinGen ExAC gnomAD
rs34685148 CA217308061	341	R>K		No	ClinGen Ensembl
CA5857521 rs745859491	341	R>W		No	ClinGen ExAC gnomAD
CA379441412 rs1306178662	342	V>I		No	ClinGen TOPMed
rs768525155 CA217308041	345	C>Y		No	ClinGen Ensembl
CA5857517 rs141428510	347	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA379441200 rs1488804255	347	M>V		No	ClinGen gnomAD
rs1185424100 CA379441121	348	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5857516 rs777430541	349	Q>H		No	ClinGen ExAC gnomAD
CA5857498 rs764823666	350	V>F		No	ClinGen ExAC gnomAD
CA379440866 rs1466326165	351	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA379440857 rs1170010654	352	L>M		No	ClinGen TOPMed
CA5857497 rs755761102	352	L>P		No	ClinGen ExAC gnomAD
CA379440846 rs1173796450	353	E>K		No	ClinGen gnomAD
rs1442900532 CA379440783	354	D>E		No	ClinGen TOPMed
rs747763666 CA5857496	354	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1324623612 CA379440778	355	E>K		No	ClinGen gnomAD
rs1392101586 CA379440737	357	V>A		No	ClinGen TOPMed gnomAD
rs1392101586 CA379440733	357	V>G		No	ClinGen TOPMed gnomAD
rs780699136 CA5857495	359	V>M		No	ClinGen ExAC TOPMed gnomAD
rs750903148 CA5857493	361	V>G		No	ClinGen ExAC gnomAD
CA5857494 rs754473108	361	V>L		No	ClinGen ExAC gnomAD
rs1255827500 CA379440523	363	C>S		No	ClinGen gnomAD
rs764618052 CA5857490	368	G>A		No	ClinGen ExAC TOPMed gnomAD
rs764618052 CA5857489 COSM689901	368	G>E	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs760883930 CA5857488	369	T>A		No	ClinGen ExAC TOPMed gnomAD
CA379440271 rs1335895683	369	T>I		No	ClinGen TOPMed
rs760883930 CA217307830	369	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1589914801 CA379440260	370	N>D		No	ClinGen Ensembl
rs767585275 CA5857486	370	N>K		No	ClinGen ExAC gnomAD
CA379440233 rs1339494446	372	R>K		No	ClinGen TOPMed gnomAD
rs1339494446 CA379440232	372	R>M		No	ClinGen TOPMed gnomAD
rs1314352729 CA379440229	372	R>S		No	ClinGen gnomAD
CA5857484 rs774453777	373	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1468400759 CA379440106	376	E>K		No	ClinGen TOPMed
CA379439874 rs11603397	379	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1300937035 CA379439888	379	N>S		No	ClinGen gnomAD
CA5857481 rs555396368	381	V>I		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	385	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1009742968 CA217307804	385	G>R		No	ClinGen TOPMed gnomAD
CA5857453 rs756684661	386	G>C		No	ClinGen ExAC TOPMed gnomAD
rs756684661 CA5857454	386	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1476281829 CA379439450	387	L>F		No	ClinGen TOPMed
TCGA novel	390	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379439283 rs1332809065	391	A>G		No	ClinGen gnomAD
rs568953297 CA217307709	391	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA379439280 rs1332809065	391	A>V		No	ClinGen gnomAD
CA5857451 rs781662830	392	E>G		No	ClinGen ExAC gnomAD
CA5857450 rs755148704	393	V>G		No	ClinGen ExAC
CA5857449 rs751795082	394	S>N		No	ClinGen ExAC gnomAD
rs1324069072 CA379439150	396	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs146302834 CA5857448	396	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA379439133 rs146302834	396	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5857447 rs758504661	397	F>L		No	ClinGen ExAC gnomAD
rs1158947743 CA379439086	398	E>K		No	ClinGen gnomAD
CA5857446 rs750541715	399	D>H		No	ClinGen ExAC gnomAD
rs142644288 CA5857445	401	R>*		No	ClinGen ESP ExAC gnomAD
rs142644288 CA379438972	401	R>G		No	ClinGen ESP ExAC gnomAD
CA379438963 rs761872259	401	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5857444 COSM1224324 rs761872259	401	R>Q	large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5857441 rs760343940	405	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1561654 CA5857442 rs763957188	405	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA379438854 rs1311959652	406	A>S		No	ClinGen TOPMed
rs1212877067 CA379438816	408	T>A		No	ClinGen gnomAD
CA379438774 rs1267234180	409	K>E		No	ClinGen gnomAD
CA5857439 rs771663410	409	K>N		No	ClinGen ExAC gnomAD
CA379438721 rs188978085	410	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379438667 rs200309492	411	G>A		No	ClinGen ExAC TOPMed gnomAD
rs200309492 CA5857436	411	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1349110286 CA379438683	411	G>S		No	ClinGen TOPMed
rs138539459 CA5857434 CA217307665	413	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs375596324 CA5857433	414	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1320174799 CA379438519	415	V>D		No	ClinGen gnomAD
rs747192913 CA5857432	415	V>I		No	ClinGen ExAC gnomAD
rs1404809755 CA379438443	416	S>F		No	ClinGen gnomAD
CA379438496 rs1257153655	416	S>P		No	ClinGen TOPMed
rs1183776772 CA379438397	417	K>R		No	ClinGen TOPMed
CA379438404 rs1183776772	417	K>T		No	ClinGen TOPMed
CA5857403 rs370637540	418	D>G		No	ClinGen ESP ExAC gnomAD
rs767484866 CA5857402	420	T>S		No	ClinGen ExAC gnomAD
CA379438098 rs1353958191	421	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1353958191 CA379438096	421	N>T		No	ClinGen gnomAD
rs1589914406 CA379438099	421	N>Y		No	ClinGen Ensembl
CA5857401 rs759041939	422	S>N		No	ClinGen ExAC gnomAD
rs751249144 CA5857400	423	H>R		No	ClinGen ExAC TOPMed gnomAD
CA379438029 rs1411037729	423	H>Y		No	ClinGen gnomAD
CA5857397 rs772646511	427	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	427	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769142846 CA5857396	429	F>I		No	ClinGen ExAC gnomAD
CA379437663 rs1182801684	432	T>A		No	ClinGen TOPMed gnomAD
rs1182801684 CA379437641	432	T>S		No	ClinGen TOPMed gnomAD
CA217307432 rs966815822	433	G>R		No	ClinGen Ensembl
CA5857393 rs772441971	434	P>S		No	ClinGen ExAC TOPMed
CA5857391 rs746026587	435	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1202462843 CA379437492	435	P>S		No	ClinGen gnomAD
rs779224731 CA5857390	436	L>V		No	ClinGen ExAC gnomAD
TCGA novel	440	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749361170 CA5857388	441	A>G		No	ClinGen ExAC gnomAD
CA379437273 rs1229517975	442	Q>E		No	ClinGen gnomAD
CA5857386 rs756115664	443	L>F		No	ClinGen ExAC gnomAD
rs1049558726 CA217307375	445	G>D		No	ClinGen TOPMed gnomAD
rs781074439 CA5857384	448	L>F		No	ClinGen ExAC gnomAD
rs1281167440 CA379437091	448	L>P		No	ClinGen gnomAD
rs188659976 CA217307365	451	C>R		No	ClinGen 1000Genomes
CA5857381 rs371291547	452	L>F		No	ClinGen ESP ExAC gnomAD
CA5857380 rs762571453	452	L>P		No	ClinGen ExAC gnomAD
rs749934418 CA5857379	453	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs749934418 CA379436914	453	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs554486854 CA5857377	455	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776002877 CA5857376	455	R>H	Variant assessed as Somatic; 4.869e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA379436840 rs776002877	455	R>P		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with O43159

1 regional properties for O43159

Type	Name	Position	InterPro Accession
conserved_site	UbiE/COQ5 methyltransferase, conserved site	380 - 394	IPR023576

Functions

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

7 GO annotations of cellular component

Name	Definition
chromatin silencing complex	Any protein complex that mediates changes in chromatin structure that result in transcriptional silencing.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
eNoSc complex	A chromatin silencing complex that recruits histone-modifying enzymes and upregulates silencing of rDNA in response to glucose starvation.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
rDNA heterochromatin	A region of heterochromatin located at the rDNA repeats in a chromosome.

3 GO annotations of molecular function

Name	Definition
methylated histone binding	Binding to a histone in which a residue has been modified by methylation.
RNA binding	Binding to an RNA molecule or a portion thereof.
S-adenosylmethionine-dependent methyltransferase activity	Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to a substrate.

12 GO annotations of biological process

Name	Definition
cellular response to glucose starvation	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 deprivation of glucose.
energy homeostasis	Any process involved in the balance between food intake (energy input) and energy expenditure.
intrinsic apoptotic signaling pathway by p53 class mediator	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, and ends when the execution phase of apoptosis is triggered.
methylation	The process in which a methyl group is covalently attached to a molecule.
negative regulation of cell cycle	Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of histone deacetylation	Any process that activates or increases the frequency, rate or extent of the removal of acetyl groups from histones.
positive regulation of histone methylation	Any process that activates or increases the frequency, rate or extent of the covalent addition of methyl groups to histones.
rDNA heterochromatin assembly	The formation of heterochromatin at ribosomal DNA, characterized by the modified histone H3K9me3.
regulation of G1 to G0 transition	Any process that modulates the frequency, rate or extent of G1 to G0 transition.
regulation of transcription by glucose	Any process involving glucose that modulates the frequency, rate or extent or transcription.
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
P38961	RRP8	25S rRNA (adenine(645)-N(1))-methyltransferase	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR

10	20	30	40	50	60
MFEEPEWAEA	APVAAGLGPV	ISRPPPAASS	QNKGSKRRQL	LATLRALEAA	SLSQHPPSLC
70	80	90	100	110	120
ISDSEEEEEE	RKKKCPKKAS	FASASAEVGK	KGKKKCQKQG	PPCSDSEEEV	ERKKKCHKQA
130	140	150	160	170	180
LVGSDSAEDE	KRKRKCQKHA	PINSAQHLDN	VDQTGPKAWK	GSTTNDPPKQ	SPGSTSPKPP
190	200	210	220	230	240
HTLSRKQWRN	RQKNKRRCKN	KFQPPQVPDQ	APAEAPTEKT	EVSPVPRTDS	HEARAGALRA
250	260	270	280	290	300
RMAQRLDGAR	FRYLNEQLYS	GPSSAAQRLF	QEDPEAFLLY	HRGFQSQVKK	WPLQPVDRIA
310	320	330	340	350	360
RDLRQRPASL	VVADFGCGDC	RLASSIRNPV	HCFDLASLDP	RVTVCDMAQV	PLEDESVDVA
370	380	390	400	410	420
VFCLSLMGTN	IRDFLEEANR	VLKPGGLLKV	AEVSSRFEDV	RTFLRAVTKL	GFKIVSKDLT
430	440	450
NSHFFLFDFQ	KTGPPLVGPK	AQLSGLQLQP	CLYKRR