AiPD: Autoinhibited Protein Database

Q96EB6

Gene name	SIRT1
Protein name	NAD-dependent protein deacetylase sirtuin-1
Names	hSIRT1, NAD-dependent protein deacylase sirtuin-1, Regulatory protein SIR2 homolog 1, SIR2-like protein 1, hSIR2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23411
EC number	2.3.1.286: Transferring groups other than amino-acyl groups
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-61 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-61 (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

10 structures for Q96EB6

Entry ID	Method	Resolution	Chain	Position	Source
4I5I	X-ray	250 A	A/B	241-516	PDB
4IF6	X-ray	225 A			PDB
4IG9	X-ray	264 A			PDB
4KXQ	X-ray	185 A			PDB
4ZZH	X-ray	310 A	A	183-505	PDB
4ZZI	X-ray	273 A	A	183-505	PDB
4ZZJ	X-ray	274 A	A	183-505	PDB
5BTR	X-ray	320 A	A/B/C	143-665	PDB
8ANB	X-ray	164 A	P	665-675	PDB
AF-Q96EB6-F1	Predicted				AlphaFoldDB

562 variants for Q96EB6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs587776957 RCV000041965 CA143680	107	L>P	Variant of unknown significance [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1165843217 CA377035040	2	A>V		No	ClinGen gnomAD
CA208364030 rs35671182 VAR_025148 CA377035047	3	D>E		No	ClinGen TOPMed UniProt dbSNP
CA377035051 rs1589064382	4	E>A		No	ClinGen Ensembl
rs955794368 CA208364034	5	A>V		No	ClinGen TOPMed gnomAD
CA377035069 rs1485737596	7	L>F		No	ClinGen TOPMed
CA377035081 rs1291063294	9	L>F		No	ClinGen TOPMed
rs966205195 CA208364062	11	P>A		No	ClinGen Ensembl
CA208364084 rs200005116	13	G>C		No	ClinGen TOPMed
CA5520972 rs201230502	14	S>P		No	ClinGen ExAC TOPMed gnomAD
CA377035119 rs1368006921	15	P>L		No	ClinGen TOPMed
CA377035114 rs1381917502	15	P>T		No	ClinGen TOPMed
CA208364101 rs995901311	16	S>L		No	ClinGen Ensembl
CA377035122 rs1422614899	16	S>T		No	ClinGen TOPMed
CA377035134 rs1431102999	18	A>V		No	ClinGen TOPMed
CA377035164 rs1323967226	23	E>K		No	ClinGen gnomAD
rs1268445241 CA377035176	24	A>G		No	ClinGen TOPMed
rs1489985293 CA377035189	26	S>L		No	ClinGen TOPMed
rs1202064844 CA377035184	26	S>T		No	ClinGen TOPMed
CA377035198 rs1589064466	27	S>F		No	ClinGen Ensembl
CA208364111 rs899362289	27	S>P		No	ClinGen Ensembl
rs920003355 CA208364124	28	P>R		No	ClinGen TOPMed
CA208364125 rs948757989	30	G>R		No	ClinGen TOPMed gnomAD
CA377035262 rs1589064475	32	P>R		No	ClinGen Ensembl
rs1344714636 CA377035326	37	P>A		No	ClinGen TOPMed
CA5520974 rs548590752	37	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377035387 rs1365874384	41	G>A		No	ClinGen gnomAD
CA377035395 rs1589064501	42	P>S		No	ClinGen Ensembl
CA208364133 rs1053224730	44	L>H		No	ClinGen TOPMed gnomAD
CA377035439 rs1466187737	45	E>D		No	ClinGen TOPMed
CA377035427 rs1166840400	45	E>Q		No	ClinGen TOPMed
rs1379015674 CA377035444	46	R>Q		No	ClinGen TOPMed
rs568432780 CA208364141	48	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs1011345346 CA208364137	48	P>S		No	ClinGen TOPMed gnomAD
CA377035482 rs1183497853	49	G>D		No	ClinGen TOPMed
rs1440092527 CA377035568	56	P>R		No	ClinGen TOPMed
CA377035575 rs1195315722	57	E>A		No	ClinGen TOPMed
rs1021816786 CA208364144	57	E>K		No	ClinGen TOPMed gnomAD
rs1483663888 CA377035588	58	R>C		No	ClinGen TOPMed
rs1227716359 CA377035612	59	E>D		No	ClinGen gnomAD
rs1265229401 CA377035609	59	E>V		No	ClinGen TOPMed
CA377035636 rs1446726608	61	P>L		No	ClinGen TOPMed gnomAD
rs1446726608 CA377035631	61	P>Q		No	ClinGen TOPMed gnomAD
CA208364157 rs964485281	63	A>V		No	ClinGen TOPMed
rs1333930827 CA377035668	64	A>T		No	ClinGen TOPMed
rs531048058 CA5520976	66	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531048058 CA377035699	66	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1450691401 CA377035737	68	P>L		No	ClinGen TOPMed gnomAD
rs1450691401 CA377035739	68	P>R		No	ClinGen TOPMed gnomAD
CA377035742 rs1159536580	69	G>S		No	ClinGen TOPMed
rs751564985 CA5520977	70	A>V		No	ClinGen ExAC TOPMed gnomAD
rs907725955 CA208364197	71	A>V		No	ClinGen TOPMed
CA377035790 rs1461061909	72	A>V		No	ClinGen TOPMed
CA377035855 rs1206687979	77	R>L		No	ClinGen TOPMed
CA377035848 rs1459511345	77	R>W		No	ClinGen gnomAD
rs864309601 RCV000202791 CA248985	78	E>G		No	ClinGen ClinVar dbSNP gnomAD
rs1278877193 CA377035860	78	E>K		No	ClinGen TOPMed
CA377035883 rs1564880865	79	A>G		No	ClinGen Ensembl
CA377035898 rs1451404296	80	E>D		No	ClinGen TOPMed
rs1388942211 CA377035907	81	A>S		No	ClinGen TOPMed
rs1383333215 CA377035935	83	A>G		No	ClinGen TOPMed
rs920039980 CA208364211	83	A>T		No	ClinGen TOPMed
rs1425887328 CA377035951	84	A>V		No	ClinGen TOPMed
rs1384549244 CA377035966	86	A>T		No	ClinGen gnomAD
rs1181845230 CA377036031	90	Q>P		No	ClinGen TOPMed
CA377036049 rs1378803687	91	E>D		No	ClinGen TOPMed gnomAD
rs1455404263 CA377036038	91	E>K		No	ClinGen TOPMed gnomAD
CA377036055 rs1478153249	92	A>P		No	ClinGen TOPMed gnomAD
rs1478153249 CA377036057	92	A>T		No	ClinGen TOPMed gnomAD
CA208364221 rs948830328	92	A>V		No	ClinGen TOPMed
rs1283355068 CA377036070	93	Q>H		No	ClinGen TOPMed
rs1171595277 CA377036074	94	A>S		No	ClinGen gnomAD
CA208364229 rs1044796885	95	T>I		No	ClinGen TOPMed
rs767360333 CA5520979	95	T>S		No	ClinGen ExAC gnomAD
rs550317521 CA5520980	97	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs990065260 CA208364234	100	E>D		No	ClinGen TOPMed gnomAD
rs199624804 CA208364230	100	E>G		No	ClinGen Ensembl
CA208364251 rs892030271	101	G>E		No	ClinGen TOPMed
rs913135320 CA208364245	101	G>R		No	ClinGen TOPMed gnomAD
CA377036166 rs1390008266	102	D>H		No	ClinGen gnomAD
rs978078516 CA208364257	103	N>S		No	ClinGen TOPMed gnomAD
CA377036216 rs1406033790	105	P>L		No	ClinGen TOPMed
CA208364261 rs927927572	106	G>V		No	ClinGen Ensembl
CA377036257 rs1437499917	108	Q>H		No	ClinGen gnomAD
rs1278542503 CA377036267	109	G>D		No	ClinGen gnomAD
rs1589064688 CA377036261	109	G>S		No	ClinGen Ensembl
rs868722110 CA208364268	110	P>A		No	ClinGen Ensembl
rs1326686646 CA377036281	110	P>L		No	ClinGen TOPMed gnomAD
rs1326686646 CA377036279	110	P>R		No	ClinGen TOPMed gnomAD
rs1282830986 CA377036294	111	S>F		No	ClinGen TOPMed gnomAD
rs1321218486 CA377036297	112	R>G		No	ClinGen TOPMed gnomAD
rs1321218486 CA377036299	112	R>W		No	ClinGen TOPMed gnomAD
rs1200315460 CA377036321	113	E>D		No	ClinGen TOPMed gnomAD
rs1465739818 CA377036308	113	E>K		No	ClinGen gnomAD
CA5520982 rs182199697 COSM3686825	114	P>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1254698465 CA377036328	114	P>S		No	ClinGen gnomAD
CA208364270 rs900251478	115	P>A		No	ClinGen TOPMed
rs930809097 CA208364275	115	P>L		No	ClinGen TOPMed
CA208364281 rs886702977	116	L>M		No	ClinGen TOPMed gnomAD
CA5520984 rs756786838	117	A>T		No	ClinGen ExAC gnomAD
CA208364286 rs865785083	119	N>S		No	ClinGen TOPMed gnomAD
CA377036393 rs865785083	119	N>T		No	ClinGen TOPMed gnomAD
rs779354477 CA5520985	120	L>F		No	ClinGen ExAC gnomAD
CA208364289 rs1030015286	120	L>S		No	ClinGen TOPMed gnomAD
rs1479697482 CA377036447	122	D>E		No	ClinGen gnomAD
CA377036433 rs1266282487	122	D>N		No	ClinGen gnomAD
CA377036488 rs1184771827	124	D>E		No	ClinGen gnomAD
CA377036479 rs1412525648	124	D>N		No	ClinGen gnomAD
CA377036526 rs1413092045	126	D>G		No	ClinGen gnomAD
rs1453683523 CA377036530	127	D>N		No	ClinGen gnomAD
CA208364304 rs865826245	128	E>K		No	ClinGen Ensembl
rs746381892 CA5520989	129	G>S		No	ClinGen ExAC gnomAD
CA377036596 rs1406007212	131	E>G		No	ClinGen TOPMed gnomAD
rs868088559 CA208364310	131	E>K		No	ClinGen Ensembl
CA377036612 rs1427006382	132	E>K		No	ClinGen TOPMed
CA377036625 rs1198565310	133	E>K		No	ClinGen TOPMed
CA5520993 rs775978922	136	A>G		No	ClinGen ExAC TOPMed gnomAD
CA208364339 rs867689409	136	A>T		No	ClinGen Ensembl
rs775978922 CA377036683	136	A>V		No	ClinGen ExAC TOPMed gnomAD
CA377036714 rs1396067593	139	A>E		No	ClinGen gnomAD
rs1023430455 CA208364351	139	A>S		No	ClinGen TOPMed gnomAD
rs142378619 CA208366179	144	D>G		No	ClinGen ESP TOPMed
rs1024951677 CA208366182	145	N>H		No	ClinGen TOPMed
rs772106776 CA5521016	146	L>P		No	ClinGen ExAC gnomAD
rs748384143 CA5521017	147	L>V		No	ClinGen ExAC TOPMed gnomAD
CA377038529 rs773494159	148	F>L		No	ClinGen ExAC TOPMed gnomAD
CA208366210 rs978488168	149	G>D		No	ClinGen TOPMed
TCGA novel	149	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776925394 CA5521020	150	D>V		No	ClinGen ExAC gnomAD
TCGA novel	151	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377038608 rs1451869566	154	T>A		No	ClinGen TOPMed gnomAD
CA377038614 rs1173732078	154	T>S		No	ClinGen gnomAD
CA377038620 rs1441322674	155	N>D		No	ClinGen TOPMed
CA5521021 rs767540399	158	H>Y		No	ClinGen ExAC gnomAD
rs200660028 CA5521022	159	S>P		No	ClinGen ExAC gnomAD
CA5521023 rs760482544	159	S>Y		No	ClinGen ExAC
rs763883280 CA5521024	160	C>S		No	ClinGen ExAC gnomAD
rs753433479 CA5521025	160	C>W		No	ClinGen ExAC gnomAD
rs1466540364 CA377038697	160	C>Y		No	ClinGen TOPMed gnomAD
rs1323755686 CA377038724	162	S>G		No	ClinGen TOPMed
rs1460870553 CA377038735	162	S>R		No	ClinGen TOPMed
CA5521026 rs761508157	163	D>E		No	ClinGen ExAC
rs1305391134 CA377038787	166	D>N		No	ClinGen gnomAD
rs144124002 RCV000938820 CA5521028	170	H>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA208366276 rs989670245	171	A>T		No	ClinGen TOPMed
rs758805613 CA5521029	174	S>R		No	ClinGen ExAC gnomAD
CA5521030 rs565217830	177	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752035789 CA5521031	178	P>S		No	ClinGen ExAC gnomAD
CA5521033 rs200805107	179	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377038993 rs1426968560	181	R>G		No	ClinGen TOPMed gnomAD
CA5521035 rs547102478	181	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1426968560 CA377038995	181	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA377039019 rs1174240434	182	I>M		No	ClinGen gnomAD
rs749341245 CA5521037	182	I>R		No	ClinGen ExAC gnomAD
TCGA novel	183	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377039072 rs1223860015	183	G>D		No	ClinGen gnomAD
rs201841214 CA208367223	186	T>S		No	ClinGen TOPMed gnomAD
rs1253732619 CA377039113	189	Q>R		No	ClinGen gnomAD
CA5521067 rs772852024	192	L>V		No	ClinGen ExAC gnomAD
rs1391705142 CA377039142	193	M>I		No	ClinGen Ensembl
CA5521069 rs200994303	193	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs762526864 CA5521068	193	M>V		No	ClinGen ExAC gnomAD
TCGA novel	194	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1292146988 CA377039145	194	I>V		No	ClinGen TOPMed gnomAD
CA377039162 rs1364332887	196	T>I		No	ClinGen gnomAD
CA377039178 rs773774776	199	R>*		No	ClinGen ExAC gnomAD
CA377039202 rs1352430885	203	K>E		No	ClinGen TOPMed
rs375988661 CA208367300 COSM3723550	207	P>L	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
CA377039245 rs1387726935	209	T>A		No	ClinGen gnomAD
rs756483371 CA208367309	209	T>I		No	ClinGen ExAC gnomAD
CA5521074 rs756483371	209	T>R		No	ClinGen ExAC gnomAD
rs201862792 CA377039253	210	I>M		No	ClinGen TOPMed
rs369379188 CA5521076	210	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA208367329 rs201668639	211	P>L		No	ClinGen Ensembl
CA5521077 rs201007799	211	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	214	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377039295 rs1438249152	217	D>N		No	ClinGen gnomAD
rs201583175 CA208367341	218	M>T		No	ClinGen Ensembl
rs745979871 CA5521079	218	M>V		No	ClinGen ExAC gnomAD
rs199716245 CA208367344	219	T>R		No	ClinGen TOPMed gnomAD
CA377039327 rs1482498508	222	Q>K		No	ClinGen TOPMed
rs1442219001 CA377039336	223	I>L		No	ClinGen gnomAD
rs769519031 CA5521083	223	I>S		No	ClinGen ExAC gnomAD
CA377039350 rs1328620249	225	I>T		No	ClinGen TOPMed gnomAD
CA5521084 rs559057403	225	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1353054670 CA377039355	226	N>D		No	ClinGen gnomAD
rs1589068201 CA377039365	227	I>T		No	ClinGen Ensembl
rs1382176398 CA377039396	232	P>Q		No	ClinGen gnomAD
rs750787952 CA208367394	232	P>S		No	ClinGen gnomAD
rs750787952 CA377039394	232	P>T		No	ClinGen gnomAD
CA377039403 rs1450537164	233	K>R		No	ClinGen gnomAD
CA208367402 rs879180328	234	R>K		No	ClinGen gnomAD
CA377039420 rs1270657663	235	K>N		No	ClinGen TOPMed gnomAD
rs1564883215	237	R>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs879037598 CA208367418	237	R>K		No	ClinGen gnomAD
CA5521088 rs199618656	240	I>S		No	ClinGen ExAC TOPMed gnomAD
CA5521087 rs199618656	240	I>T		No	ClinGen ExAC TOPMed gnomAD
CA5521090 rs776084517	243	I>T		No	ClinGen ExAC gnomAD
CA5521089 rs200711525	243	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA5521092 rs201479376	245	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761327480 CA5521091	245	D>H		No	ClinGen ExAC gnomAD
rs1471141881 CA377039562	256	I>V		No	ClinGen TOPMed gnomAD
CA377039571 rs1405977818	257	I>T		No	ClinGen TOPMed gnomAD
CA5521095 rs765326045	257	I>V		No	ClinGen ExAC gnomAD
rs750671807 CA5521096	259	L>V		No	ClinGen ExAC gnomAD
CA377039586 rs1394031280	260	T>A		No	ClinGen TOPMed
TCGA novel	264	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1564884263 CA377039774	266	V>L		No	ClinGen Ensembl
rs865778460 CA208368698	267	S>L		No	ClinGen Ensembl
TCGA novel	270	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377039826 rs1479647397	270	I>V		No	ClinGen gnomAD
TCGA novel	273	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779685735 CA5521127	275	S>T		No	ClinGen ExAC gnomAD
rs776933716 CA5521130	277	D>G		No	ClinGen ExAC gnomAD
CA377039967 rs1589070016	279	I>V		No	ClinGen Ensembl
rs1367456169 CA377040013	282	R>C		No	ClinGen gnomAD
rs762393274 CA5521132 COSM919611	282	R>H	Variant assessed as Somatic; 9.24e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs762393274 CA5521131	282	R>L		No	ClinGen ExAC TOPMed gnomAD
rs773632625 CA5521133	283	L>R		No	ClinGen ExAC gnomAD
TCGA novel	284	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377040065 rs1315055590	286	D>G		No	ClinGen gnomAD
rs1013661646 CA208368722	286	D>H		No	ClinGen TOPMed
rs375090685 CA208368725	289	D>G		No	ClinGen ESP
rs1329525494 CA377040755	290	L>I		No	ClinGen gnomAD
CA377040862 rs1236710841	294	Q>*		No	ClinGen gnomAD
CA377040897 rs368002483	295	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5521136 rs751811485	295	A>T		No	ClinGen ExAC TOPMed gnomAD
rs368002483 CA5521137	295	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5521139 rs753708973	296	M>I		No	ClinGen ExAC gnomAD
CA377040928 rs1564884305	297	F>S		No	ClinGen Ensembl
rs199983221 CA208368736	299	I>T		No	ClinGen TOPMed gnomAD
rs780983084 CA208368740	305	D>E		No	ClinGen Ensembl
rs200902165 CA208368745	308	P>A		No	ClinGen TOPMed gnomAD
TCGA novel	315	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1235452860 CA377043976	316	I>V		No	ClinGen TOPMed
rs1589080784 CA377043990	317	Y>D		No	ClinGen Ensembl
TCGA novel	318	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5521175 rs772390347	320	Q>E		No	ClinGen ExAC gnomAD
CA5521177 rs532201569	322	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA208376169 rs200987359	326	C>S		No	ClinGen TOPMed gnomAD
rs1410067243 CA377044172	328	K>R		No	ClinGen gnomAD
CA208376173 rs552023236	330	I>V		No	ClinGen 1000Genomes
rs201340003 CA208376177	331	A>T		No	ClinGen Ensembl
CA377044223 rs1157736577	332	L>W		No	ClinGen TOPMed gnomAD
rs200610338 CA5521181	333	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs751410492 CA5521182	335	K>E		No	ClinGen ExAC TOPMed gnomAD
COSM1348653 rs201583982 CA208376193	341	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA5521183 rs147909071	341	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5521184 rs767148239	342	N>T		No	ClinGen ExAC gnomAD
CA377044393 rs1292350491	343	Y>C		No	ClinGen gnomAD
CA377044573 rs200058231	353	V>F		No	ClinGen TOPMed gnomAD
rs200058231 CA208376210	353	V>L		No	ClinGen TOPMed gnomAD
rs777323664 CA5521187	354	A>S		No	ClinGen ExAC gnomAD
CA208376216 rs141528984	354	A>V		No	ClinGen ESP TOPMed gnomAD
CA5521189 rs757804740	355	G>E		No	ClinGen ExAC gnomAD
rs1017283750 CA208376232	356	I>M		No	ClinGen TOPMed gnomAD
rs116374368 CA5521190	357	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1480935024 CA377044619	358	R>K		No	ClinGen gnomAD
rs1235876376 CA377044658	361	Q>H		No	ClinGen TOPMed gnomAD
rs1000020014 CA208382125 COSM194884	369	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA377045416 rs1471211487	372	L>V		No	ClinGen gnomAD
CA5521209 rs763566753	373	I>S		No	ClinGen ExAC gnomAD
rs753398498 CA5521210	375	K>E		No	ClinGen ExAC
rs756786753 CA5521211	379	D>A		No	ClinGen ExAC TOPMed
rs779440453 CA5521212	380	C>G		No	ClinGen ExAC gnomAD
rs779440453 CA377045471	380	C>R		No	ClinGen ExAC gnomAD
rs1305054381 CA377045473	380	C>S		No	ClinGen TOPMed
CA377045486 rs1446148922	382	A>P		No	ClinGen gnomAD
CA377045491 rs750895479	383	V>I		No	ClinGen ExAC gnomAD
rs750895479 CA5521213	383	V>L		No	ClinGen ExAC gnomAD
CA5521214 rs758727461	385	G>R		No	ClinGen ExAC gnomAD
rs17855430 CA208382150	386	D>A		No	ClinGen TOPMed
CA208382152 rs17855430	386	D>G		No	ClinGen TOPMed
TCGA novel	386	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs17855431 CA208382155	387	I>L		No	ClinGen ExAC gnomAD
rs17855431 CA5521215	387	I>V		No	ClinGen ExAC gnomAD
rs1255852295 CA377045526	389	N>D		No	ClinGen gnomAD
rs17855432 CA208382162	389	N>S		No	ClinGen Ensembl
CA208382166 rs989153228	390	Q>R		No	ClinGen TOPMed gnomAD
rs201152568 CA208382748	392	V>I		No	ClinGen TOPMed gnomAD
rs1051881207 CA208382756	394	R>*		No	ClinGen TOPMed
rs766737138 CA5521233	394	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	396	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA208382767 rs757269120	396	P>L		No	ClinGen Ensembl
rs752020872 CA5521234	396	P>S		No	ClinGen ExAC gnomAD
CA377045583 rs1200857950	397	R>G		No	ClinGen gnomAD
TCGA novel	397	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377045613 rs1477293278	399	P>Q		No	ClinGen gnomAD
CA208382770 rs1047393773	399	P>T		No	ClinGen Ensembl
rs755416990 CA5521235	400	A>G		No	ClinGen ExAC TOPMed gnomAD
rs748394475 COSM919612 CA5521237	403	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA377045653 rs748394475	403	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA377045659 rs1460011282	404	L>F		No	ClinGen TOPMed
CA208382775 rs757140711	406	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5521240 rs149206117	411	I>V		No	ClinGen ESP ExAC gnomAD
CA377045753 rs1340780587	412	V>M		No	ClinGen TOPMed gnomAD
CA5521241 rs771950281	416	E>D		No	ClinGen ExAC gnomAD
rs775426483 CA5521242	419	P>S		No	ClinGen ExAC TOPMed gnomAD
rs775426483 CA377045834	419	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5521243 rs746762337	421	Q>E		No	ClinGen ExAC gnomAD
CA5521245 rs776212608	421	Q>H		No	ClinGen ExAC gnomAD
rs371326132 CA5521244	421	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs201635394 CA5521247	425	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs200690371 CA377045902	425	A>P		No	ClinGen TOPMed
CA208382810 rs200690371	425	A>T		No	ClinGen TOPMed
CA377045942 rs1362106598	428	Y>C		No	ClinGen gnomAD
CA5521248 rs772640272	430	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1337495965 CA377045981	431	D>G		No	ClinGen TOPMed
rs763496433 CA5521249	432	E>K		No	ClinGen ExAC gnomAD
rs745364339 CA208382815	433	V>I		No	ClinGen gnomAD
rs745364339 CA377045996	433	V>L		No	ClinGen gnomAD
rs1184537805 CA377046010	434	D>G		No	ClinGen gnomAD
CA208382832 rs199593180	435	L>F		No	ClinGen gnomAD
CA5521250 rs766945174	435	L>H		No	ClinGen ExAC gnomAD
rs199593180 CA377046018	435	L>V		No	ClinGen gnomAD
rs755327185 CA5521252	436	L>F		No	ClinGen ExAC gnomAD
CA5521253 rs768051584	437	I>T		No	ClinGen ExAC gnomAD
CA377046036 rs1257460794	437	I>V		No	ClinGen TOPMed
TCGA novel	439	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1029118327 CA208382836	440	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs752958196 CA5521254	441	S>F		No	ClinGen ExAC gnomAD
rs756329197 CA5521255	444	K>R		No	ClinGen ExAC gnomAD
TCGA novel	446	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1483205269 CA377046143	447	P>L		No	ClinGen gnomAD
CA377046182 rs1325855305	451	I>M		No	ClinGen TOPMed
CA208382849 rs267602551	452	P>S		No	ClinGen Ensembl
CA377046194 rs1375598245	453	S>G		No	ClinGen gnomAD
rs1200157325 CA377047031	455	I>L		No	ClinGen gnomAD
rs200021101 CA208384424	455	I>M		No	ClinGen Ensembl
rs201348222 CA208384427	456	P>A		No	ClinGen Ensembl
CA208384434 rs146837595	457	H>R		No	ClinGen ESP
CA208384439 rs140677498	462	I>K		No	ClinGen ESP
rs1236259317 CA377047143	462	I>M		No	ClinGen Ensembl
CA5521274 rs761122062	463	L>F		No	ClinGen ExAC gnomAD
CA5521275 rs764179598	466	R>K		No	ClinGen ExAC gnomAD
CA377047213 rs1406225734	467	E>D		No	ClinGen TOPMed gnomAD
TCGA novel	468	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA208384451 rs777705431	468	P>R		No	ClinGen Ensembl
CA377047252 rs201948258	470	P>L		No	ClinGen ExAC TOPMed gnomAD
rs201948258 CA5521277	470	P>R		No	ClinGen ExAC TOPMed gnomAD
rs779026786 CA5521278	471	H>R		No	ClinGen ExAC gnomAD
CA5521279 rs751498023	473	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs754951946 CA5521280	479	L>F		No	ClinGen ExAC TOPMed gnomAD
rs145326137 CA5521281	483	D>N		No	ClinGen ESP ExAC gnomAD
CA208384470 rs1063111 VAR_051976	484	V>D		No	ClinGen UniProt Ensembl dbSNP
CA377047440 rs1312903591	484	V>I		No	ClinGen gnomAD
CA208384476 rs1063112	485	I>T		No	ClinGen Ensembl
TCGA novel	486	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA208384488 rs771126114	488	E>Q		No	ClinGen gnomAD
rs1063114 CA208384494	490	C>*		No	ClinGen Ensembl
rs369274325 CA5521285	495	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	497	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	498	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1173354902 CA377047662	499	K>N		No	ClinGen TOPMed gnomAD
CA5521287 rs549636735	499	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5521288 rs549636735	499	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	500	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5521289 rs772656917	501	C>R		No	ClinGen ExAC gnomAD
rs202116390 CA208384513	502	C>R		No	ClinGen gnomAD
rs150099719 CA5521290	502	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs201090108 CA5521291	503	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs116499760 CA5521292	504	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs909912033 CA208384542	505	V>I		No	ClinGen TOPMed gnomAD
CA377047809 rs1386664764	510	I>V		No	ClinGen gnomAD
rs750553699 CA5521296	511	T>I		No	ClinGen ExAC gnomAD
rs1285575541 CA377047864	514	P>R		No	ClinGen gnomAD
TCGA novel	515	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA208384560 rs201863201	515	P>L		No	ClinGen Ensembl
rs1224464761 CA377047882	516	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA377047885 COSM277278 rs1247003248	516	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs201058854 CA5521300	518	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA377047921 rs1397000657	519	K>E		No	ClinGen TOPMed
rs200415719 CA208384571	519	K>N		No	ClinGen 1000Genomes TOPMed
TCGA novel	520	E>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5521301 rs61754500	522	A>V		No	ClinGen TOPMed
rs1208799614 CA377047980	523	Y>C		No	ClinGen gnomAD
rs199649997 CA208384586	525	S>L		No	ClinGen Ensembl
rs748917510 CA5521304	527	L>W		No	ClinGen ExAC gnomAD
rs770755510 CA377048049	528	P>L		No	ClinGen ExAC gnomAD
CA5521305 rs770755510	528	P>Q		No	ClinGen ExAC gnomAD
rs1450189602 CA377048096	532	L>F		No	ClinGen gnomAD
rs1292260091 CA377048100	532	L>R		No	ClinGen gnomAD
CA377048119 rs1224283349	534	V>I		No	ClinGen gnomAD
TCGA novel	535	S>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5521308 rs116040871 RCV000948374	536	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA377048162 rs1308551562	537	D>N		No	ClinGen gnomAD
CA5521309 rs199497583	539	S>G		No	ClinGen ExAC TOPMed gnomAD
CA208384620 rs199497583	539	S>R		No	ClinGen ExAC TOPMed gnomAD
CA5521310 rs192990424	539	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5521311 rs768902657	541	P>R		No	ClinGen ExAC gnomAD
CA208384641 rs892821661	542	E>V		No	ClinGen TOPMed
CA377048247 rs1357873484	543	R>G		No	ClinGen TOPMed
CA377048253 rs1320870381	543	R>T		No	ClinGen gnomAD
rs777098039 CA5521312	544	T>S		No	ClinGen ExAC gnomAD
CA377048290 rs1475785988	546	P>A		No	ClinGen gnomAD
rs201723648 CA208384651	547	P>S		No	ClinGen Ensembl
rs1007238332 CA208384654	548	D>G		No	ClinGen TOPMed gnomAD
CA377048315 rs1307916842	548	D>H		No	ClinGen TOPMed
TCGA novel	548	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373331174 COSM377396 CA208384663	549	S>C	lung [Cosmic]	No	ClinGen cosmic curated ESP TOPMed
CA377048360 rs1235780462	551	V>A		No	ClinGen gnomAD
CA208384667 rs758444346	551	V>M		No	ClinGen Ensembl
CA377048364 rs1446102743	552	I>V		No	ClinGen gnomAD
CA5521315 rs773456695	553	V>F		No	ClinGen ExAC gnomAD
rs377735046 CA208384674	556	L>V		No	ClinGen ESP TOPMed gnomAD
rs919162147 CA377048422	557	D>H		No	ClinGen gnomAD
CA208384695 rs919162147	557	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1330804026 CA377048462	559	A>G		No	ClinGen gnomAD
TCGA novel	559	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1051041309 CA208384703	559	A>T		No	ClinGen Ensembl
CA5521316 rs762955289	560	A>G		No	ClinGen ExAC gnomAD
rs756116247 CA5521319	564	D>G		No	ClinGen ExAC gnomAD
TCGA novel	564	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763773932 CA5521320	565	D>G		No	ClinGen ExAC TOPMed gnomAD
CA208384716 rs942784892	566	L>S		No	ClinGen Ensembl
CA5521323 rs144625497	573	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs745527350 CA5521324	574	C>G		No	ClinGen ExAC gnomAD
rs1462243145 CA377048718	574	C>Y		No	ClinGen gnomAD
rs757828571 CA5521325	575	M>K		No	ClinGen ExAC gnomAD
rs779678154 CA5521326	576	E>K		No	ClinGen ExAC gnomAD
TCGA novel	577	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747447296 CA5521327	578	K>Q		No	ClinGen ExAC gnomAD
CA377048872 rs1589084920	580	Q>R		No	ClinGen Ensembl
TCGA novel	581	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377048928 rs769257926	583	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA377048939 rs777147954	583	Q>H		No	ClinGen ExAC gnomAD
CA5521329 rs769257926	583	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA208384756 rs201096600	583	Q>P		No	ClinGen Ensembl
rs748473217 CA5521332	585	S>C		No	ClinGen ExAC TOPMed gnomAD
rs202044007 CA208384771	586	R>G		No	ClinGen Ensembl
CA5521334 rs773365044	586	R>T		No	ClinGen ExAC gnomAD
rs763220339 CA5521335	587	N>D		No	ClinGen ExAC gnomAD
CA377049064 rs1199455034	589	E>G		No	ClinGen TOPMed
rs1387799393 CA377049080	590	S>R		No	ClinGen gnomAD
rs370128548 CA208384783	591	I>V		No	ClinGen ESP TOPMed
CA5521338 rs759555466	594	Q>H		No	ClinGen ExAC gnomAD
rs139635382 CA5521339	595	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA208384786 rs1039769206	595	M>V		No	ClinGen Ensembl
CA5521340 rs753828684	597	N>D		No	ClinGen ExAC gnomAD
CA5521342 rs765178020	601	K>R		No	ClinGen ExAC gnomAD
CA5521343 rs750092788	603	V>L		No	ClinGen ExAC TOPMed gnomAD
CA208384811 rs533321736	604	G>D		No	ClinGen TOPMed
CA5521344 rs200296961	604	G>S		No	ClinGen ExAC TOPMed gnomAD
CA377049402 rs533321736	604	G>V		No	ClinGen TOPMed
CA5521345 rs779413432	607	T>A		No	ClinGen ExAC TOPMed gnomAD
rs963095350 CA208384819	611	N>H		No	ClinGen TOPMed
CA377049551 rs1193665057	612	E>Q		No	ClinGen gnomAD
TCGA novel	614	T>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377049615 rs1414023245	615	S>A		No	ClinGen TOPMed
rs781614748 CA5521348	616	V>A		No	ClinGen ExAC gnomAD
rs991510115 CA208384822	620	V>A		No	ClinGen TOPMed
rs991510115 CA377049718	620	V>G		No	ClinGen TOPMed
TCGA novel	621	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377049751 rs1160645506	623	C>S		No	ClinGen gnomAD
TCGA novel	624	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377049824 rs567829185	628	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs567829185 CA5521350	628	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs199770148 CA5521351	630	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1296052737 CA377049872	631	E>D		No	ClinGen gnomAD
rs1451930340 CA377049901	633	I>M		No	ClinGen TOPMed
rs1332764907 CA377049909	634	S>N		No	ClinGen gnomAD
CA377049932 rs1410882240	635	R>S		No	ClinGen TOPMed
rs771135356 CA5521353	636	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5521352 rs201647881	636	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1342236378 CA377049942	637	L>I		No	ClinGen gnomAD
rs1255389662 CA377049960	638	D>G		No	ClinGen TOPMed
rs1238826257 CA377051762	640	N>S		No	ClinGen gnomAD
rs766102594 CA5521379	641	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	645	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA208386494 rs918503045	646	P>L		No	ClinGen TOPMed
CA377051891 rs1351830584	646	P>T		No	ClinGen TOPMed
rs1246391112 COSM215429 CA377051955	649	R>C	Variant assessed as Somatic; impact. endometrium central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1162652974 CA594255386	650	Y>*		No	ClinGen gnomAD
rs752153256 CA5521383	650	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA377051986 rs1332048288	651	I>V		No	ClinGen TOPMed
rs1410863068 CA377052101	656	E>K		No	ClinGen gnomAD
CA208386500 rs199502996	657	V>L		No	ClinGen Ensembl
CA208386502 rs984395300	658	Y>H		No	ClinGen TOPMed
rs778184510 CA5521385	660	D>A		No	ClinGen ExAC gnomAD
CA5521387 rs757624637	661	S>F		No	ClinGen ExAC gnomAD
CA5521386 rs754313614	661	S>P		No	ClinGen ExAC gnomAD
TCGA novel	661	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	662	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	663	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1246002188 CA377052309	665	V>D		No	ClinGen gnomAD
CA5521389 rs201730062	665	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA377052324 rs1379252260	666	L>S		No	ClinGen TOPMed
rs772469360 CA5521390	667	S>A		No	ClinGen ExAC TOPMed gnomAD
rs780449017 CA5521391	667	S>F		No	ClinGen ExAC gnomAD
rs772469360 CA208386515	667	S>P		No	ClinGen ExAC TOPMed gnomAD
CA377052342 rs1258853759	668	S>P		No	ClinGen gnomAD
rs768864413 CA5521394	670	S>F		No	ClinGen ExAC gnomAD
CA5521393 rs768864413	670	S>Y		No	ClinGen ExAC gnomAD
rs114575266 CA5521396	671	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377449611 CA5521397	673	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA377052432 rs1589087439	673	S>R		No	ClinGen Ensembl
CA377052430 rs1186590766	673	S>T		No	ClinGen gnomAD
rs759347614 CA5521398	675	S>C		No	ClinGen ExAC gnomAD
CA5521399 rs759347614	675	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1312104590 CA377052483	676	D>G		No	ClinGen Ensembl
rs1589087464 CA377052585	681	Q>*		No	ClinGen Ensembl
COSM1474709 CA377052594 rs1422369208	681	Q>H	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA377052587 rs1171276858	681	Q>P		No	ClinGen gnomAD
rs1055202028 CA208386544	683	P>L		No	ClinGen TOPMed gnomAD
CA5521402 rs114572830	684	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs114572830 CA208386547	684	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754362414 CA5521403	685	L>*		No	ClinGen ExAC TOPMed gnomAD
rs754362414 CA377052650	685	L>S		No	ClinGen ExAC TOPMed gnomAD
CA5521405 rs765609303	688	P>H		No	ClinGen ExAC gnomAD
CA5521404 rs757740493	688	P>S		No	ClinGen ExAC gnomAD
CA377052704 rs1223523187	689	M>L		No	ClinGen TOPMed
CA5521406 rs750707792	689	M>R		No	ClinGen ExAC gnomAD
rs1223523187 CA377052701	689	M>V		No	ClinGen TOPMed
CA377052759 rs1279371482	693	S>N		No	ClinGen gnomAD
rs140030776 CA5521407	695	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1287332193 CA377052783	696	E>G		No	ClinGen gnomAD
TCGA novel	697	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377052787 rs1225337110	697	E>Q		No	ClinGen gnomAD
CA377052795 rs1282280106	698	F>L		No	ClinGen TOPMed
rs1243937141 CA377052815	699	Y>C		No	ClinGen TOPMed
CA5521409 rs747251569	700	N>H		No	ClinGen ExAC TOPMed gnomAD
CA208386555 rs116459300	700	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5521410 rs116459300	700	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377052842 rs1255205628	701	G>D		No	ClinGen gnomAD
CA5521411 rs201327262 CA377052876	703	E>D		No	ClinGen ExAC TOPMed gnomAD
rs151026272 CA208386559	704	D>A		No	ClinGen ESP TOPMed gnomAD
rs778261267 CA208386562	705	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs749218988 CA5521412	706	P>R		No	ClinGen ExAC gnomAD
CA208386572 rs868057033	707	D>E		No	ClinGen Ensembl
rs1007564772 CA208386567	707	D>H		No	ClinGen Ensembl
rs1476767773 CA377052939	708	V>A		No	ClinGen gnomAD
CA377052950 rs1377658006	709	P>R		No	ClinGen gnomAD
rs770824011 CA377052945	709	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs770824011 CA5521413	709	P>T		No	ClinGen ExAC gnomAD
CA377052955 rs1465268496	710	E>Q		No	ClinGen gnomAD
CA5521414 rs774376548	711	R>T		No	ClinGen ExAC TOPMed gnomAD
CA5521415 rs114182972	712	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377052999 rs771866041	713	G>*		No	ClinGen ExAC gnomAD
rs771866041 CA5521416	713	G>R		No	ClinGen ExAC gnomAD
CA377053008 rs1374102040	714	G>R		No	ClinGen TOPMed
CA5521417 rs775109357	723	D>E		No	ClinGen ExAC gnomAD
CA377053123 rs1299110584	723	D>H		No	ClinGen gnomAD
rs201854199 CA5521418	724	Q>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA377053141 rs1195962687	724	Q>P		No	ClinGen TOPMed
rs201112743 CA208386590	725	E>K		No	ClinGen TOPMed
CA5521420 rs776051187	726	A>S		No	ClinGen ExAC TOPMed gnomAD
rs781343147 CA5521421	727	I>SVN*		No	ClinGen ExAC
rs202021325 CA208386596	727	I>T		No	ClinGen Ensembl
CA5521423 rs761406151	728	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5521422 rs761406151	728	N>T		No	ClinGen ExAC TOPMed gnomAD
rs977473225 CA208386600	729	E>D		No	ClinGen gnomAD
rs35224060 CA377053235	731	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5521425 rs758781892	731	I>T		No	ClinGen ExAC gnomAD
CA5521424 rs35224060	731	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377053257 rs1486696314	732	S>F		No	ClinGen TOPMed gnomAD
rs766908589 CA5521426	733	V>M		No	ClinGen ExAC gnomAD
rs1564896279 CA377053305	736	E>K		No	ClinGen Ensembl
CA377053347 rs1252932360	739	D>Y		No	ClinGen TOPMed
rs1188847251 CA377053384	742	Y>*		No	ClinGen gnomAD
TCGA novel	745	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756220511 CA5521431	745	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA377053453 rs1471466430	747	S>*		No	ClinGen gnomAD

No associated diseases with Q96EB6

1 regional properties for Q96EB6

Type	Name	Position	InterPro Accession
domain	Sirtuin family, catalytic core domain	236 - 496	IPR026590

Functions

		Description
EC Number	2.3.1.286	Transferring groups other than amino-acyl groups
Subcellular Localization	Nucleus, PML body Cytoplasm Nucleus	Recruited to the nuclear bodies via its interaction with PML (PubMed:12006491) Colocalized with APEX1 in the nucleus (PubMed:19934257) May be found in nucleolus, nuclear euchromatin, heterochromatin and inner membrane (PubMed:15469825) Shuttles between nucleus and cytoplasm (By similarity) Colocalizes in the nucleus with XBP1 isoform 2 (PubMed:20955178)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

16 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
chromatin silencing complex	Any protein complex that mediates changes in chromatin structure that result in transcriptional silencing.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
euchromatin	A dispersed and relatively uncompacted form of chromatin that is in a transcription-competent conformation.
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.
heterochromatin	A compact and highly condensed form of chromatin that is refractory to transcription.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nuclear envelope	The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).
nuclear inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope.
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.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
PML body	A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection.
rDNA heterochromatin	A region of heterochromatin located at the rDNA repeats in a chromosome.

25 GO annotations of molecular function

Name	Definition
bHLH transcription factor binding	Binding to a basic Helix-Loop-Helix (bHLH) superfamily of transcription factors, important regulatory components in transcriptional networks of many developmental pathways.
deacetylase activity	Catalysis of the hydrolysis of an acetyl group or groups from a substrate molecule.
DNA-binding transcription factor binding	Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
histone binding	Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription.
histone deacetylase activity	Catalysis of the reaction: histone N6-acetyl-L-lysine + H2O = histone L-lysine + acetate. This reaction represents the removal of an acetyl group from a histone, a class of proteins complexed to DNA in chromatin and chromosomes.
HLH domain binding	Binding to a Helix Loop Helix domain, a domain of 40-50 residues that occurs in specific DNA-binding proteins that act as transcription factors. The domain is formed of two amphipathic helices joined by a variable length linker region that can form a loop and it mediates protein dimerization.
identical protein binding	Binding to an identical protein or proteins.
keratin filament binding	Binding to a keratin filament, an intermediate filament composed of acidic and basic keratins (types I and II), typically expressed in epithelial cells.
metal ion binding	Binding to a metal ion.
mitogen-activated protein kinase binding	Binding to a mitogen-activated protein kinase.
NAD+ binding	Binding to the oxidized form, NAD, of nicotinamide adenine dinucleotide, a coenzyme involved in many redox and biosynthetic reactions.
NAD-dependent histone deacetylase activity	Catalysis of the reaction: histone N6-acetyl-L-lysine + H2O = histone L-lysine + acetate. This reaction requires the presence of NAD, and represents the removal of an acetyl group from a histone.
NAD-dependent histone deacetylase activity (H3-K9 specific)	Catalysis of the reaction: histone H3 N6-acetyl-L-lysine (position 9) + H2O = histone H3 L-lysine (position 9) + acetate. This reaction requires the presence of NAD, and represents the removal of an acetyl group from lysine at position 9 of the histone H3 protein.
NAD-dependent histone decrotonylase activity	Catalysis of the reaction: H2O + N6-(2E)-butenoyl-L-lysyl- + NAD+ = 2''-O-(2E)-but-2-enoyl-ADP-D-ribose + L-lysyl-
NAD-dependent protein deacetylase activity	Catalysis of the removal of one or more acetyl groups from a protein, requiring NAD.
nuclear receptor binding	Binding to a nuclear receptor protein. Nuclear receptor proteins are DNA-binding transcription factors which are regulated by binding to a ligand.
p53 binding	Binding to one of the p53 family of proteins.
promoter-specific chromatin binding	Binding to a section of chromatin that is associated with gene promoter sequences of DNA.
protein C-terminus binding	Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
protein lysine deacetylase activity	Catalysis of the reaction: H2O + N6-acetyl-L-lysyl-
protein-propionyllysine depropionylase activity	Catalysis of the reaction:H2O + N(6)-propanoyl-L-lysyl- + NAD(+) = 3''-O-propanoyl-ADP-D-ribose + L-lysyl-
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
transcription coactivator activity	A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.
transcription corepressor activity	A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

116 GO annotations of biological process

Name	Definition
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
behavioral response to starvation	Any process that results in a change in the behavior of an organism as a result of deprivation of nourishment.
cellular glucose homeostasis	A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment.
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 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.
cellular response to hydrogen peroxide	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 hydrogen peroxide (H2O2) stimulus.
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.
cellular response to ionizing radiation	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 ionizing radiation stimulus. Ionizing radiation is radiation with sufficient energy to remove electrons from atoms and may arise from spontaneous decay of unstable isotopes, resulting in alpha and beta particles and gamma rays. Ionizing radiation also includes X-rays.
cellular response to leukemia inhibitory factor	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 leukemia inhibitory factor stimulus.
cellular response to 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 nourishment.
cellular response to tumor necrosis factor	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 tumor necrosis factor stimulus.
cellular triglyceride homeostasis	Any process involved in the maintenance of an internal steady state of triglyceride within a cell or between a cell and its external environment.
cholesterol homeostasis	Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell.
chromatin organization	The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA.
circadian regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression such that an expression pattern recurs with a regularity of approximately 24 hours.
DNA methylation-dependent heterochromatin assembly	Repression of transcription by methylation of DNA, leading to the formation of heterochromatin.
DNA synthesis involved in DNA repair	Synthesis of DNA that proceeds from the broken 3' single-strand DNA end and uses the homologous intact duplex as the template.
energy homeostasis	Any process involved in the balance between food intake (energy input) and energy expenditure.
fatty acid homeostasis	Any process involved in the maintenance of an internal steady state of fatty acid within an organism or cell.
heterochromatin assembly	An epigenetic gene silencing mechanism in which chromatin is compacted into heterochromatin, resulting in a chromatin conformation refractory to transcription. This process starts with heterochromatin nucleation, its spreading, and ends with heterochromatin boundary formation.
histone deacetylation	The modification of histones by removal of acetyl groups.
histone H3 deacetylation	The modification of histone H3 by the removal of one or more acetyl groups.
intrinsic apoptotic signaling pathway in response to DNA damage 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, in response to the detection of DNA damage, and ends when the execution phase of apoptosis is triggered.
leptin-mediated signaling pathway	The series of molecular signals initiated by leptin binding to its receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Leptin is a hormone manufactured primarily in the adipocytes of white adipose tissue, and the level of circulating leptin is directly proportional to the total amount of fat in the body.
macrophage differentiation	The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage.
muscle organ development	The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work.
negative regulation of androgen receptor signaling pathway	Any process that decreases the rate, frequency, or extent of the androgen receptor signaling pathway.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of cAMP-dependent protein kinase activity	Any process that stops, prevents or reduces the frequency, rate or extent of cAMP-dependent protein kinase activity.
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 cell growth	Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth.
negative regulation of cellular response to testosterone stimulus	Any process that stops, prevents or reduces the frequency, rate or extent of cellular response to testosterone stimulus.
negative regulation of cellular senescence	Any process that stops, prevents or reduces the frequency, rate or extent of cellular senescence.
negative regulation of DNA damage response, signal transduction by p53 class mediator	Any process that stops, prevents, or reduces the frequency, rate or extent of the cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage.
negative regulation of DNA-binding transcription factor activity	Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of fat cell differentiation	Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation.
negative regulation of gene expression	Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
negative regulation of helicase activity	Any process that stops or reduces the activity of a helicase.
negative regulation of histone H3-K14 acetylation	Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of an acetyl group to histone H3 at position 14 of the histone.
negative regulation of histone H3-K9 trimethylation	Any process that stops, prevents or reduces the frequency, rate or extent of histone H3-K9 trimethylation.
negative regulation of histone H4-K16 acetylation	Any process that stops, prevents or reduces the frequency, rate or extent of histone H4-K16 acetylation.
negative regulation of I-kappaB kinase/NF-kappaB signaling	Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling.
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	Any process that stops, prevents or reduces the frequency, rate or extent of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator.
negative regulation of neuron death	Any process that stops, prevents or reduces the frequency, rate or extent of neuron death.
negative regulation of NF-kappaB transcription factor activity	Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB.
negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of an oxidative stress-induced intrinsic apoptotic signaling pathway.
negative regulation of peptidyl-lysine acetylation	Any process that stops, prevents or reduces the frequency, rate or extent of peptidyl-lysine acetylation.
negative regulation of phosphorylation	Any process that stops, prevents or decreases the rate of addition of phosphate groups to a molecule.
negative regulation of prostaglandin biosynthetic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of prostaglandin.
negative regulation of protein acetylation	Any process that stops, prevents or reduces the frequency, rate or extent of protein acetylation.
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 TOR signaling	Any process that stops, prevents, or reduces the frequency, rate or extent of TOR signaling.
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 transforming growth factor beta receptor signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of any TGF-beta receptor signaling pathway.
ovulation from ovarian follicle	The process leading to the rupture of the follicle, releasing the centrally located oocyte into the oviduct. An example of this is found in Mus musculus.
peptidyl-lysine acetylation	The acetylation of peptidyl-lysine.
peptidyl-lysine deacetylation	The removal of an acetyl group from an acetylated lysine residue in a peptide or protein.
positive regulation of adaptive immune response	Any process that activates or increases the frequency, rate, or extent of an adaptive immune response.
positive regulation of adipose tissue development	Any process that activates or increases the frequency, rate or extent of adipose tissue development.
positive regulation of angiogenesis	Any process that activates or increases angiogenesis.
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of blood vessel endothelial cell migration	Any process that activates or increases the frequency, rate or extent of the migration of the endothelial cells of blood vessels.
positive regulation of cAMP-dependent protein kinase activity	Any process that activates or increases the frequency, rate or extent of cAMP-dependent protein kinase activity.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of cellular senescence	Any process that activates or increases the frequency, rate or extent of cellular senescence.
positive regulation of cholesterol efflux	Any process that increases the frequency, rate or extent of cholesterol efflux. Cholesterol efflux is the directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle.
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	Any process that activates or increases the activity of a cysteine-type endopeptidase involved in the apoptotic process.
positive regulation of DNA repair	Any process that activates or increases the frequency, rate or extent of DNA repair.
positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	Any process that activates or increases the frequency, rate or extent of an endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway.
positive regulation of endothelial cell proliferation	Any process that activates or increases the rate or extent of endothelial cell proliferation.
positive regulation of gluconeogenesis	Any process that activates or increases the frequency, rate or extent of gluconeogenesis.
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 H3-K9 methylation	Any process that activates or increases the frequency, rate or extent of the covalent addition of a methyl group to the lysine at position 9 of histone H3.
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.
positive regulation of insulin receptor signaling pathway	Any process that increases the frequency, rate or extent of insulin receptor signaling.
positive regulation of macroautophagy	Any process, such as recognition of nutrient depletion, that activates or increases the rate of macroautophagy to bring cytosolic macromolecules to the vacuole/lysosome for degradation.
positive regulation of macrophage apoptotic process	Any process that activates or increases the frequency, rate or extent of macrophage apoptotic process.
positive regulation of macrophage cytokine production	Any process that increases the rate, frequency or extent of macrophage cytokine production. Macrophage cytokine production is the appearance of a chemokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels.
positive regulation of MHC class II biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of MHC class II.
positive regulation of phosphatidylinositol 3-kinase signaling	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
positive regulation of protein phosphorylation	Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of smooth muscle cell differentiation	Any process that activates or increases the frequency, rate or extent of smooth muscle cell differentiation.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
proteasome-mediated ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in 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.
protein deacetylation	The removal of an acetyl group from a protein amino acid. An acetyl group is CH3CO-, derived from acetic
protein depropionylation	The removal of a propionyl group from a residue in a peptide or protein.
protein destabilization	Any process that decreases the stability of a protein, making it more vulnerable to degradative processes or aggregation.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.
pyrimidine dimer repair by nucleotide-excision repair	The repair of UV-induced T-T, C-T, and C-C dimers by the recognition and removal of the damaged DNA strand from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase.
rDNA heterochromatin assembly	The formation of heterochromatin at ribosomal DNA, characterized by the modified histone H3K9me3.
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of bile acid biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids.
regulation of brown fat cell differentiation	Any process that modulates the rate, frequency, or extent of brown fat cell differentiation. Brown fat cell differentiation is the process in which a relatively unspecialized cell acquires specialized features of a brown adipocyte, an animal connective tissue cell involved in adaptive thermogenesis. Brown adipocytes contain multiple small droplets of triglycerides and a high number of mitochondria.
regulation of cell population proliferation	Any process that modulates the frequency, rate or extent of cell proliferation.
regulation of cellular response to heat	Any process that modulates the frequency, rate or extent of cellular response to heat.
regulation of centrosome duplication	Any process that modulates the frequency, rate or extent of centrosome duplication. Centrosome duplication is the replication of a centrosome, a structure comprised of a pair of centrioles and peri-centriolar material from which a microtubule spindle apparatus is organized.
regulation of endodeoxyribonuclease activity	Any process that modulates the frequency, rate or extent of endodeoxyribonuclease activity, the hydrolysis of ester linkages within deoxyribonucleic acid by creating internal breaks.
regulation of glucose metabolic process	Any process that modulates the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose.
regulation of lipid storage	Any process that modulates the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development.
regulation of mitotic cell cycle	Any process that modulates the rate or extent of progress through the mitotic cell cycle.
regulation of peroxisome proliferator activated receptor signaling pathway	Any process that modulates the frequency, rate or extent of the peroxisome proliferator activated receptor signaling pathway.
regulation of protein serine/threonine kinase activity	Any process that modulates the rate, frequency, or extent of protein serine/threonine kinase activity.
regulation of smooth muscle cell apoptotic process	Any process that modulates the frequency, rate, or extent of smooth muscle cell apoptotic process.
regulation of transcription by glucose	Any process involving glucose that modulates the frequency, rate or extent or transcription.
response to hydrogen peroxide	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydrogen peroxide (H2O2) stimulus.
response to insulin	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.
response to leptin	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a leptin stimulus. Leptin is a hormone manufactured primarily in the adipocytes of white adipose tissue, and the level of circulating leptin is directly proportional to the total amount of fat in the body. It plays a key role in regulating energy intake and energy expenditure, including appetite and metabolism].
response to oxidative stress	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals.
single strand break repair	The repair of single strand breaks in DNA. Repair of such breaks is mediated by the same enzyme systems as are used in base excision repair.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.
stress-induced premature senescence	A cellular senescence process associated with the dismantling of a cell as a response to environmental factors such as hydrogen peroxide or X-rays.
transforming growth factor beta receptor signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
triglyceride mobilization	The release of triglycerides, any triester of glycerol, from storage within cells or tissues, making them available for metabolism.
UV-damage excision repair	A DNA repair process that is initiated by an endonuclease that introduces a single-strand incision immediately 5' of a UV-induced damage site. UV-damage excision repair acts on both cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone 6-4 photoproducts (6-4PPs).
white fat cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a white adipocyte, an animal connective tissue cell involved in energy storage. White adipocytes have cytoplasmic lipids arranged in a unique vacuole.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9VK34	Sirt1	NAD-dependent histone deacetylase sirtuin-1	Drosophila melanogaster (Fruit fly)	PR
Q8IXJ6	SIRT2	NAD-dependent protein deacetylase sirtuin-2	Homo sapiens (Human)	EV
Q8N6T7	SIRT6	NAD-dependent protein deacylase sirtuin-6	Homo sapiens (Human)	PR
Q9NTG7	SIRT3	NAD-dependent protein deacetylase sirtuin-3, mitochondrial	Homo sapiens (Human)	SS
Q923E4	Sirt1	NAD-dependent protein deacetylase sirtuin-1	Mus musculus (Mouse)	PR
Q68FX9	Sirt5	NAD-dependent protein deacylase sirtuin-5, mitochondrial	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MADEAALALQ	PGGSPSAAGA	DREAASSPAG	EPLRKRPRRD	GPGLERSPGE	PGGAAPEREV
70	80	90	100	110	120
PAAARGCPGA	AAAALWREAE	AEAAAAGGEQ	EAQATAAAGE	GDNGPGLQGP	SREPPLADNL
130	140	150	160	170	180
YDEDDDDEGE	EEEEAAAAAI	GYRDNLLFGD	EIITNGFHSC	ESDEEDRASH	ASSSDWTPRP
190	200	210	220	230	240
RIGPYTFVQQ	HLMIGTDPRT	ILKDLLPETI	PPPELDDMTL	WQIVINILSE	PPKRKKRKDI
250	260	270	280	290	300
NTIEDAVKLL	QECKKIIVLT	GAGVSVSCGI	PDFRSRDGIY	ARLAVDFPDL	PDPQAMFDIE
310	320	330	340	350	360
YFRKDPRPFF	KFAKEIYPGQ	FQPSLCHKFI	ALSDKEGKLL	RNYTQNIDTL	EQVAGIQRII
370	380	390	400	410	420
QCHGSFATAS	CLICKYKVDC	EAVRGDIFNQ	VVPRCPRCPA	DEPLAIMKPE	IVFFGENLPE
430	440	450	460	470	480
QFHRAMKYDK	DEVDLLIVIG	SSLKVRPVAL	IPSSIPHEVP	QILINREPLP	HLHFDVELLG
490	500	510	520	530	540
DCDVIINELC	HRLGGEYAKL	CCNPVKLSEI	TEKPPRTQKE	LAYLSELPPT	PLHVSEDSSS
550	560	570	580	590	600
PERTSPPDSS	VIVTLLDQAA	KSNDDLDVSE	SKGCMEEKPQ	EVQTSRNVES	IAEQMENPDL
610	620	630	640	650	660
KNVGSSTGEK	NERTSVAGTV	RKCWPNRVAK	EQISRRLDGN	QYLFLPPNRY	IFHGAEVYSD
670	680	690	700	710	720
SEDDVLSSSS	CGSNSDSGTC	QSPSLEEPME	DESEIEEFYN	GLEDEPDVPE	RAGGAGFGTD
730	740
GDDQEAINEA	ISVKQEVTDM	NYPSNKS