AiPD: Autoinhibited Protein Database

O43823

Gene name	AKAP8 (AKAP95)
Protein name	A-kinase anchor protein 8
Names	AKAP-8, A-kinase anchor protein 95 kDa, AKAP 95
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10270
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

75-263 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

75-263 (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

1 structures for O43823

Entry ID	Method	Resolution	Chain	Position	Source
AF-O43823-F1	Predicted				AlphaFoldDB

700 variants for O43823

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs754301101 CA204084 CA404507198 RCV000190141	263	G>R	Long QT syndrome [ClinVar]	Yes	ClinGen ExAC gnomAD ClinVar dbSNP
rs778290852 CA9266637	2	D>E		No	ClinGen ExAC gnomAD
rs1248928804 CA404516641	2	D>G		No	ClinGen Ensembl
CA404516664 rs747362693	2	D>N		No	ClinGen ExAC gnomAD
rs747362693 CA9266638	2	D>Y		No	ClinGen ExAC gnomAD
rs1410893474 CA404516633	3	Q>*		No	ClinGen gnomAD
COSM3959645 rs776280853 CA9266636	4	G>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1599579352 CA404516584	4	G>D		No	ClinGen Ensembl
rs1372740114 CA404516522	6	G>E		No	ClinGen TOPMed
rs1416686206 CA404516536	6	G>R		No	ClinGen gnomAD
rs780466979 CA9266613	10	A>T		No	ClinGen ExAC gnomAD
rs755984203 CA9266612	10	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1386887448 CA404515095	11	W>*		No	ClinGen Ensembl
CA9266611 rs568660290	12	S>N		No	ClinGen ExAC TOPMed gnomAD
rs781152033 CA9266610	15	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1349016263 CA404515031	15	P>T		No	ClinGen gnomAD
rs757010364 CA9266609	16	A>T		No	ClinGen ExAC gnomAD
CA404515002 rs1428348574	16	A>V		No	ClinGen TOPMed gnomAD
CA9266586 rs764727382	20	G>V		No	ClinGen ExAC gnomAD
rs766031371 CA9266583	21	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1180309872 CA404514138	22	Y>F		No	ClinGen gnomAD
CA404514143 rs1261722110	22	Y>H		No	ClinGen gnomAD
CA305814637 rs113147605	24	T>S		No	ClinGen Ensembl
rs1599572610 CA404514088	25	G>D		No	ClinGen Ensembl
rs1473740860 CA404514087	26	V>M		No	ClinGen gnomAD
CA9266582 rs762122355	27	A>D		No	ClinGen ExAC gnomAD
rs774811575 CA9266581	28	S>G		No	ClinGen ExAC gnomAD
CA404513872 rs1450311700	31	G>D		No	ClinGen TOPMed
rs747916260 CA9266546	34	N>K		No	ClinGen ExAC TOPMed gnomAD
CA9266544 rs200427700	36	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9266543 rs768609581	38	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs749177199 CA9266542	39	G>S		No	ClinGen ExAC TOPMed gnomAD
rs199886431 CA305814217	40	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs199886431 CA9266540 COSM1711949	40	A>T	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1211065572 CA404513690	41	Q>R		No	ClinGen TOPMed
CA9266538 rs780698925	43	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1599571935 CA404513660	43	T>P		No	ClinGen Ensembl
CA404513653 rs780698925	43	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1568254193 CA404513650	44	S>G		No	ClinGen Ensembl
rs900563839 CA305814213	46	T>I		No	ClinGen TOPMed
CA404513551 rs1293704113	49	A>S		No	ClinGen TOPMed gnomAD
rs1293704113 CA404513556	49	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA404513543 rs1246598925	49	A>V		No	ClinGen gnomAD
CA9266535 rs765659943	50	T>I		No	ClinGen ExAC gnomAD
CA305814202 rs1040875337	50	T>P		No	ClinGen TOPMed
CA404513440 rs1405025128	53	Y>F		No	ClinGen TOPMed
rs371961765 COSM1391107 CA9266533	54	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA305814186 rs369396055	56	A>V		No	ClinGen ESP TOPMed gnomAD
rs1385331172 CA404513338	57	S>L		No	ClinGen TOPMed gnomAD
TCGA novel	60	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773531995 CA9266530	61	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA305814179 rs375568292	62	K>R		No	ClinGen ESP TOPMed gnomAD
CA404513148 rs1568254149	64	N>D		No	ClinGen Ensembl
CA9266528 rs543107450	64	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1373184159 CA404513096	66	G>A		No	ClinGen TOPMed gnomAD
rs1373184159 CA404513098	66	G>D		No	ClinGen TOPMed gnomAD
CA9266526 rs372276967	67	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201040301 CA9266523 COSM144639	69	A>G	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs201040301 CA9266524	69	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9266519 rs757004459	71	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	71	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9266517 rs779421659	72	A>D		No	ClinGen ExAC TOPMed gnomAD
CA404512936 rs1316614194	73	P>R		No	ClinGen gnomAD
CA9266515 rs143110237	74	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs143110237 CA9266514	74	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1409530929 CA404512908 CA404512904	75	M>L		No	ClinGen gnomAD
CA9266513 rs760847556	75	M>T		No	ClinGen ExAC gnomAD
rs540992457 CA404512880	76	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs540992457 CA9266512	76	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404512857 rs182841537	77	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs182841537 CA9266511	77	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9266510 rs200946181	78	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1171532363 CA404512796	79	S>C		No	ClinGen TOPMed gnomAD
rs1171532363 CA404512794	79	S>F		No	ClinGen TOPMed gnomAD
CA9266507 rs138205008	81	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9266506 rs138205008	81	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs371717938 CA9266505	82	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA404512706 rs1206510197	85	C>W		No	ClinGen gnomAD
CA305814088 rs953618674	86	T>A		No	ClinGen Ensembl
CA404512698 rs1184116236	86	T>I		No	ClinGen TOPMed
CA305814082 rs1029152918	87	D>G		No	ClinGen Ensembl
CA9266503 rs776305733	87	D>N		No	ClinGen ExAC TOPMed gnomAD
rs746722423 CA9266501	90	D>N		No	ClinGen ExAC gnomAD
rs1020376129 CA305814071	91	S>F		No	ClinGen Ensembl
rs1263913817 CA404512595	92	L>H		No	ClinGen gnomAD
rs777549589 CA9266500	93	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1425445803 CA404512568	94	A>S		No	ClinGen TOPMed
CA305814070 rs145618483	95	K>R		No	ClinGen ESP
CA404512501 rs1340474154	97	N>K		No	ClinGen gnomAD
CA9266499 rs755415548	97	N>S		No	ClinGen ExAC gnomAD
CA404512479 rs1332921187	98	Q>H		No	ClinGen TOPMed gnomAD
CA9266498 rs749584259	99	R>C		No	ClinGen ExAC TOPMed gnomAD
rs780425403 CA9266497	99	R>H		No	ClinGen ExAC gnomAD
rs1599571691 CA404512416	101	D>E		No	ClinGen Ensembl
CA404512433 rs756600778	101	D>H		No	ClinGen ExAC gnomAD
CA9266496 rs756600778	101	D>Y		No	ClinGen ExAC gnomAD
CA404512257 rs1456420803	108	G>C		No	ClinGen gnomAD
CA9266495 rs537386173	108	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537386173 CA404512251	108	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141962668 CA9266493	109	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9266492 rs751838083	110	G>S		No	ClinGen ExAC gnomAD
CA404512200 rs1236770565	110	G>V		No	ClinGen gnomAD
CA9266490 rs762851384	111	G>R		No	ClinGen ExAC TOPMed gnomAD
CA305814043 rs17855604	113	G>D		No	ClinGen Ensembl
CA9266488 rs138778621	113	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370984046 CA9266487	114	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs770618850 CA404512043	115	G>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	115	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770618850 CA9266485	115	G>S		No	ClinGen ExAC TOPMed gnomAD
CA404512033 rs1356111761	115	G>V		No	ClinGen gnomAD
CA9266483 rs773038027	116	G>R		No	ClinGen ExAC gnomAD
CA9266484 rs773038027	116	G>W		No	ClinGen ExAC gnomAD
rs200266612 CA305814026	117	E>G		No	ClinGen Ensembl
rs886563750 CA305814027	117	E>K		No	ClinGen TOPMed
CA9266482 rs771653952	118	G>A		No	ClinGen ExAC gnomAD
CA404511958 rs1384334246	118	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA404511927 rs1343127540	119	I>T		No	ClinGen gnomAD
CA9266481 rs747785344	119	I>V		No	ClinGen ExAC gnomAD
rs780294003 CA9266480	120	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs150227649 CA9266479 CA404511873	121	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140271912 CA404511866	122	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9266477 rs537526016	122	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA305814011 rs537526016	122	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404511861 rs537526016	122	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA9266478 rs140271912	122	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1489784994	123	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404511829 rs1293175258	124	S>G		No	ClinGen gnomAD
rs1281127140 CA404510601	126	F>L		No	ClinGen gnomAD
CA9266450 rs199596712	127	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9266449 rs753715966	127	R>L		No	ClinGen ExAC TOPMed gnomAD
CA404510597 rs199596712	127	R>S		No	ClinGen ExAC TOPMed gnomAD
rs557566826 CA9266448	129	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA9266447 rs543998894	130	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750317687 CA9266446	130	P>L		No	ClinGen ExAC TOPMed gnomAD
rs761375603 CA305810881	131	F>L		No	ClinGen ExAC gnomAD
rs117367631 CA9266442	132	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9266443 rs117367631	132	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762557069 CA9266441	134	Y>C		No	ClinGen ExAC gnomAD
CA404510338 rs1599571074	135	D>A		No	ClinGen Ensembl
CA9266440 rs777006737	135	D>Y		No	ClinGen ExAC gnomAD
CA9266439 rs771230436	136	S>Y		No	ClinGen ExAC
CA404510299 rs1599571070	137	R>G		No	ClinGen Ensembl
rs1224492328 CA404510281 CA404510282	137	R>S		No	ClinGen TOPMed
rs747522574 CA9266438	138	P>L		No	ClinGen ExAC gnomAD
CA404510268 rs1175966049	138	P>S		No	ClinGen TOPMed gnomAD
CA404510275 rs1175966049	138	P>T		No	ClinGen TOPMed gnomAD
rs1252549849 CA404510253	139	C>R		No	ClinGen gnomAD
CA9266437 rs778326770	141	P>L		No	ClinGen ExAC TOPMed gnomAD
CA404510195 rs1263163161	142	E>Q		No	ClinGen TOPMed
rs748223348 CA9266435	143	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA404510135 rs1599571032	144	N>T		No	ClinGen Ensembl
CA9266433 rs755272068	145	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9266434 rs778814765	145	P>S		No	ClinGen ExAC gnomAD
rs1389598762 CA404510081	146	Y>C		No	ClinGen gnomAD
CA404510089 rs1306087762	146	Y>N		No	ClinGen gnomAD
rs1389598762 CA404510076	146	Y>S		No	ClinGen gnomAD
CA9266431 rs779998462	147	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9266430 rs199551594 COSM992171	147	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9266429 rs750388000	148	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9266428 rs146125281	150	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404509957 rs1411652142	151	S>I		No	ClinGen gnomAD
rs1310980536 CA404509912	153	D>E		No	ClinGen TOPMed
rs763550420 CA9266425	153	D>N		No	ClinGen ExAC TOPMed gnomAD
CA404509915 rs1405977146	153	D>V		No	ClinGen TOPMed
rs762609413 CA9266424	155	E>K		No	ClinGen ExAC TOPMed gnomAD
rs775060199 CA9266423	155	E>V		No	ClinGen ExAC gnomAD
CA9266422 CA9266421 rs773627639	156	F>L		No	ClinGen ExAC TOPMed gnomAD
CA9266419 rs772661694	157	D>N		No	ClinGen ExAC gnomAD
rs774502753 CA9266417	161	D>N		No	ClinGen ExAC TOPMed gnomAD
rs375658740 CA9266416	162	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs558615660 CA9266415	162	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9266414 rs780411972	163	N>S		No	ClinGen ExAC TOPMed gnomAD
rs756024480 CA9266413	164	G>D		No	ClinGen ExAC TOPMed gnomAD
rs148526102 CA9266409	167	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148526102 RCV000882064 CA9266407	167	G>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs142229471 CA9266412 CA9266410	167	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9266408 rs148526102	167	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142229471 CA9266411	167	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs752767200	169	Q>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404509581 rs1384599376	169	Q>R		No	ClinGen gnomAD
rs768155611 CA305810705	171	S>G		No	ClinGen gnomAD
rs1410578177 CA404509519	172	E>D		No	ClinGen gnomAD
CA9266404 rs764834209	173	C>W		No	ClinGen ExAC TOPMed gnomAD
rs1163456064 CA404509475	174	R>*		No	ClinGen TOPMed gnomAD
rs1163456064 CA404509477	174	R>G		No	ClinGen TOPMed gnomAD
rs759068489 CA9266403	174	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA404509443 rs1599570881	175	D>A		No	ClinGen Ensembl
CA9266402 rs773646159	176	P>S		No	ClinGen ExAC TOPMed
rs12983369 CA9266399	178	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs201218309 CA9266400	178	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9266398 rs749357933	180	R>G		No	ClinGen ExAC gnomAD
rs144996992 CA404509359	180	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs144996992 COSM1524545 CA9266396	180	R>Q	lung oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs749357933 CA9266397	180	R>W		No	ClinGen ExAC gnomAD
rs770173155 CA9266395	181	G>D		No	ClinGen ExAC gnomAD
CA9266393 rs781056958	184	D>V		No	ClinGen ExAC TOPMed gnomAD
rs747038257 CA9266391	187	M>K		No	ClinGen ExAC gnomAD
CA9266389 rs757939809	188	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9266390 rs569588266	188	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404509204 rs1290571958	189	G>C		No	ClinGen TOPMed
rs919960025 CA305810644	189	G>D		No	ClinGen TOPMed gnomAD
CA404509202 rs1290571958	189	G>S		No	ClinGen TOPMed
rs919960025 CA404509194	189	G>V		No	ClinGen TOPMed gnomAD
rs199550070 CA404509192	190	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773929361 CA9266387	190	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs199550070 CA9266388	190	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767992491 CA9266384	191	G>D		No	ClinGen ExAC TOPMed gnomAD
CA9266386 rs148406708	191	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9266385 rs148406708	191	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9266382 rs762070995	192	Q>E		No	ClinGen ExAC gnomAD
rs1396458339 CA404509153	192	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs567290517 CA305810607	193	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs374092087 CA9266380	194	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs61757556 CA9266379	194	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1489803018 CA404509024	197	D>G		No	ClinGen gnomAD
rs954721453 CA305810572	197	D>N		No	ClinGen gnomAD
CA9266377 rs775735026	198	R>G		No	ClinGen ExAC TOPMed gnomAD
rs547463044 CA9266375	198	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547463044 CA9266374	198	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA9266376 rs775735026	198	R>W		No	ClinGen ExAC TOPMed gnomAD
CA305810560 rs995910484	201	P>T		No	ClinGen TOPMed gnomAD
rs1229848551 CA404508902	203	T>I		No	ClinGen gnomAD
CA404508882 rs1282895129 CA404508880	204	F>L		No	ClinGen gnomAD
CA404508854 rs1403417073	205	M>T		No	ClinGen gnomAD
CA404508876 rs1251624887	205	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs370861200 COSM1182386 CA9266373	206	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs111389458 RCV000879918 CA9266372	206	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9266371 rs746746325	207	S>G		No	ClinGen ExAC gnomAD
CA305810552 rs942141241	208	D>N		No	ClinGen TOPMed gnomAD
TCGA novel	210	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9266369 rs532876878	211	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1270812806 CA404508661	212	P>L		No	ClinGen gnomAD
CA404508651 rs1568253547	213	P>A		No	ClinGen Ensembl
rs1199467640 CA404508636	213	P>L		No	ClinGen TOPMed gnomAD
rs1199467640 CA404508642	213	P>R		No	ClinGen TOPMed gnomAD
rs1326927523 CA404508618	214	A>T		No	ClinGen gnomAD
rs528469952 CA305810540	215	A>S		No	ClinGen Ensembl
CA9266364 rs563931587	215	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757681607 CA9266362	216	S>F		No	ClinGen ExAC TOPMed gnomAD
rs764505670 CA9266360	217	S>C		No	ClinGen ExAC gnomAD
CA404508491 rs1347751505	218	E>D		No	ClinGen gnomAD
rs1284371995 CA404508457	220	L>P		No	ClinGen gnomAD
CA404508456 rs1284371995	220	L>R		No	ClinGen gnomAD
CA305810510 rs938921665	221	S>C		No	ClinGen Ensembl
CA9266356 rs759524859	222	T>M		No	ClinGen ExAC TOPMed gnomAD
rs765428584 CA9266357	222	T>P		No	ClinGen ExAC gnomAD
CA305810485 rs907400561	223	P>A		No	ClinGen Ensembl
CA404508323 rs1296033178	225	N>Y		No	ClinGen TOPMed
CA9266351 RCV000971962 rs200383217	226	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1431120498 CA404508253	227	L>V		No	ClinGen gnomAD
rs1173015735 CA404508214	228	N>K		No	ClinGen gnomAD
CA305810459 rs1010782035	228	N>S		No	ClinGen TOPMed gnomAD
CA404508178 rs1231034890	230	V>M		No	ClinGen gnomAD
CA9266349 rs561267299	231	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1183940094 CA404508168	231	G>S		No	ClinGen gnomAD
rs1242658070 CA404508147	232	G>R		No	ClinGen gnomAD
CA9266348 rs768260540	232	G>V		No	ClinGen ExAC gnomAD
rs779577362 CA9266345	233	R>Q		No	ClinGen ExAC TOPMed
CA9266347 rs748716805	233	R>W		No	ClinGen ExAC TOPMed gnomAD
CA404508093 rs1261277688	234	G>D		No	ClinGen TOPMed
CA404508075 rs1178992484	235	L>P		No	ClinGen TOPMed
TCGA novel	236	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9266343 rs778290315 CA9266342	237	G>R		No	ClinGen ExAC gnomAD
CA404507954 rs1356868314	238	P>L		No	ClinGen TOPMed
CA404507962 rs1174761564	238	P>T		No	ClinGen TOPMed
rs1037916527 CA305810412	239	S>P		No	ClinGen TOPMed
RCV000891067 CA9266337 rs374389542	240	P>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA404507847 rs1202600832	240	P>S		No	ClinGen gnomAD
CA305810391 rs1055952904	241	S>I		No	ClinGen TOPMed gnomAD
rs766422224 CA9266334	242	R>L		No	ClinGen ExAC TOPMed gnomAD
rs766422224 COSM1182383 CA404507749	242	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9266335 rs538615949	242	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1181886340 CA404507700	243	P>L		No	ClinGen TOPMed gnomAD
CA9266331 rs761573604	244	P>A		No	ClinGen ExAC gnomAD
CA404507678 rs1238201909	244	P>L		No	ClinGen gnomAD
CA9266330 rs761573604	244	P>S		No	ClinGen ExAC gnomAD
rs774386640 COSM1680765 CA9266329	245	P>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA404507674 rs1215374622	245	P>T		No	ClinGen gnomAD
CA404507606 rs375504255	247	L>F		No	ClinGen ESP TOPMed gnomAD
rs1477990727 CA404507588	247	L>R		No	ClinGen TOPMed
CA305810377 rs375504255	247	L>V		No	ClinGen ESP TOPMed gnomAD
rs1241470823 CA404507565	249	S>F		No	ClinGen gnomAD
rs774877555 CA9266326	250	Q>*		No	ClinGen ExAC
TCGA novel	251	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404507495 rs1313724494	252	M>V		No	ClinGen gnomAD
CA404507457 rs1243066328	253	A>P		No	ClinGen TOPMed gnomAD
CA404507467 rs1243066328	253	A>S		No	ClinGen TOPMed gnomAD
rs745584936 CA404507389	255	D>H		No	ClinGen ExAC TOPMed gnomAD
rs745584936 CA9266324	255	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1304748437 CA404507349	256	Y>C		No	ClinGen TOPMed
rs1417431780 CA404507364	256	Y>H		No	ClinGen TOPMed
CA404507340 rs1320118342	257	G>S		No	ClinGen gnomAD
rs144582281 CA9266322	258	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144582281 CA9266321 RCV000971316	258	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1161598305 CA404507262	259	M>I		No	ClinGen gnomAD
CA9266320 rs779284132	259	M>T		No	ClinGen ExAC gnomAD
rs1375398880 CA404507222	261	M>I		No	ClinGen TOPMed
CA404507230 rs1446478436	261	M>L		No	ClinGen TOPMed gnomAD
CA9266319 rs755451146	262	Q>R		No	ClinGen ExAC gnomAD
rs754301101 CA9266318	263	G>W		No	ClinGen ExAC gnomAD
TCGA novel	264	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1474574714 CA404507177	264	A>P		No	ClinGen gnomAD
CA9266317 rs766433853	264	A>V		No	ClinGen ExAC TOPMed gnomAD
CA404507154 rs1490293541	265	G>D		No	ClinGen gnomAD
CA9266314 rs567114306	266	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA9266315 rs201942739	266	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA305810286 rs761984246	267	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1290014113 CA404507127	267	Y>H		No	ClinGen gnomAD
CA9266313 rs761984246	267	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1359501907 CA404507101	268	D>N		No	ClinGen gnomAD
CA9266311 rs763893708	270	T>I		No	ClinGen ExAC gnomAD
CA404506960 rs1178742400	271	M>I		No	ClinGen TOPMed
rs1470776913 CA404506968	271	M>T		No	ClinGen TOPMed
CA305810271 rs879171993	272	P>R		No	ClinGen Ensembl
CA404506888 rs1350511945	274	G>E		No	ClinGen gnomAD
rs775496511 CA9266309	274	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1165142541 CA404506867	275	C>S		No	ClinGen TOPMed
rs772828195 CA9266307	277	R>C		No	ClinGen ExAC gnomAD
CA9266306 rs776467913 COSM3378580	277	R>H	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs533862171 CA9266305	278	S>L		No	ClinGen 1000Genomes ExAC gnomAD
CA404506737 rs1482067092	280	P>A		No	ClinGen gnomAD
rs769057727 CA9266302	281	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs779146472 CA404506699	281	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1203134365 CA404506679	282	M>I		No	ClinGen gnomAD
CA404506686 rs1265500562	282	M>T		No	ClinGen gnomAD
rs1305262102 CA404506671	283	R>G		No	ClinGen TOPMed gnomAD
rs201087231 CA9266301	283	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA305810228 rs201087231	283	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9266300 rs201087231	283	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1305262102 CA404506668	283	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs750533192 CA9266298	284	D>V		No	ClinGen ExAC gnomAD
rs369628844 CA9266299	284	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA9266295 rs757485353	285	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9266296 rs377047890	285	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	286	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9266292 rs146135700	287	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763864182 CA9266293	287	R>W		No	ClinGen ExAC gnomAD
CA9266256 rs747084890	289	K>R		No	ClinGen ExAC gnomAD
RCV000954771 CA9266254 rs45479794	295	R>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs45479794 CA404506087	295	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9266253 rs374011971	295	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA404506077 rs374011971	295	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs778915734 CA9266251	296	F>C		No	ClinGen ExAC TOPMed
CA404506074 rs1315048906	296	F>I		No	ClinGen gnomAD
CA9266252 rs757688688	296	F>W		No	ClinGen ExAC
CA305809640 rs981491959	297	G>R		No	ClinGen TOPMed gnomAD
rs199931184 CA9266249	298	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9266248 rs199931184	298	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA305809626 rs867870812	299	D>N		No	ClinGen Ensembl
CA9266246 rs778223401	301	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1433315191 CA404505855	304	K>E		No	ClinGen TOPMed
rs1189149472 CA404505846	304	K>R		No	ClinGen gnomAD
rs752673284 CA9266242	305	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs562521789 CA9266243	305	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1298596067 CA404505755	308	F>L		No	ClinGen TOPMed
rs141922967 CA9266238	310	L>V		No	ClinGen ESP ExAC gnomAD
rs199867696 CA9266236	312	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs199867696 CA305809580	312	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs371432747 CA404505638	313	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9266235 rs371432747	313	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA305809575 rs564210492	314	P>S		No	ClinGen Ensembl
rs148305720 CA9266234	315	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	315	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9266233 rs779252959	316	T>A		No	ClinGen ExAC gnomAD
rs779252959 CA404505543	316	T>P		No	ClinGen ExAC gnomAD
CA404505508 rs1341559858	317	K>R		No	ClinGen gnomAD
CA404505482 rs1568252967	319	A>T		No	ClinGen Ensembl
CA9266231 rs749125058	319	A>V		No	ClinGen ExAC gnomAD
rs115439396 CA9266229	320	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000904928 CA9266228 rs115439396	320	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs779664437 CA9266230	320	R>W		No	ClinGen ExAC TOPMed gnomAD
rs567716912 CA9266225	321	V>A		No	ClinGen ExAC TOPMed gnomAD
rs567716912 CA9266226	321	V>D		No	ClinGen ExAC TOPMed gnomAD
rs767123360 CA9266227	321	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1478651763 CA404505431	322	D>H		No	ClinGen gnomAD
CA404505427 rs1478651763	322	D>Y		No	ClinGen gnomAD
CA9266222 rs553738230	323	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA9266221 rs766581299	323	S>N		No	ClinGen ExAC gnomAD
CA9266220 rs367556124	325	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1338832066 CA404505318	326	D>H		No	ClinGen gnomAD
rs1010872048 CA305809511	328	S>F		No	ClinGen Ensembl
rs761951154 CA9266217	329	E>G		No	ClinGen ExAC gnomAD
rs201405913 COSM1244752 CA404505255	329	E>K	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
CA305809498 rs201405913	329	E>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA305809284 rs200305270	332	D>G		No	ClinGen 1000Genomes
rs1280443678 CA404504989	332	D>Y		No	ClinGen TOPMed
CA404504934 rs1256714813	334	A>G		No	ClinGen TOPMed
CA404504943 rs1218628167	334	A>T		No	ClinGen TOPMed
rs1378532416 CA404504928	335	G>C		No	ClinGen gnomAD
rs770882953 CA9266191	337	F>S		No	ClinGen ExAC TOPMed gnomAD
rs770882953 CA305809281	337	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs1242715297 CA404504860	338	R>C		No	ClinGen TOPMed gnomAD
rs560438541 CA9266190	338	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA305809276 rs560438541	338	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs149598752 CA305809266	340	G>E		No	ClinGen ESP TOPMed gnomAD
rs375676951 CA9266189	340	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA404504801 rs1568252792	341	D>N		No	ClinGen Ensembl
TCGA novel	343	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1192939395 CA404504718	344	F>L		No	ClinGen TOPMed
rs1371236566 CA404504665	346	G>D		No	ClinGen TOPMed
CA9266173 rs138223241	347	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs747019407 CA9266170	348	D>G		No	ClinGen ExAC TOPMed
CA9266171 rs770651728	348	D>N		No	ClinGen ExAC gnomAD
RCV000964055 CA9266169 rs34063092	350	L>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs778447463 CA9266166	351	C>R		No	ClinGen ExAC gnomAD
rs754591935 CA305808087	351	C>W		No	ClinGen ExAC TOPMed gnomAD
CA9266164 rs748913936	352	D>N		No	ClinGen ExAC gnomAD
CA305808083 rs749344859	353	S>T		No	ClinGen TOPMed gnomAD
CA305808079 rs932022124	355	R>K		No	ClinGen TOPMed gnomAD
CA9266161 rs752151622	357	R>S		No	ClinGen ExAC gnomAD
CA9266127 rs138174418	360	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	360	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404502293 rs1239564420	361	E>D		No	ClinGen gnomAD
CA305807022 rs916514675	361	E>K		No	ClinGen Ensembl
rs772466008 CA9266123	363	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1254075328 CA404502247	364	D>G		No	ClinGen gnomAD
CA305807005 rs867833489	365	E>*		No	ClinGen TOPMed gnomAD
CA305807007 rs867833489	365	E>K		No	ClinGen TOPMed gnomAD
CA404502225 rs779457121	366	D>N		No	ClinGen ExAC gnomAD
COSM709700 CA9266121 rs779457121	366	D>Y	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA9266118 rs755393923	367	V>A		No	ClinGen ExAC gnomAD
rs1237995595 CA404502199	367	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	369	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9266115 rs756343813	370	R>S		No	ClinGen ExAC gnomAD
rs368973978 CA9266114	371	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA404502079 rs1262136071	373	K>T		No	ClinGen TOPMed
rs767283404 CA9266113	374	Q>E		No	ClinGen ExAC gnomAD
rs767283404 CA404502065	374	Q>K		No	ClinGen ExAC gnomAD
CA9266111 rs751500989	378	D>E		No	ClinGen ExAC TOPMed gnomAD
rs140071691 CA305806953	380	T>M		No	ClinGen ESP TOPMed gnomAD
CA305806956 rs954460996	380	T>P		No	ClinGen Ensembl
rs1422935061 CA404501950	381	R>Q		No	ClinGen gnomAD
rs974441300 CA305806948	381	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs762942536 CA9266108	383	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1182385 CA9266106 rs933036638	383	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA404501916 rs1483460306	384	A>P		No	ClinGen TOPMed gnomAD
CA9266105 rs775141589	384	A>V		No	ClinGen ExAC gnomAD
rs1286906975 CA404501891	386	D>A		No	ClinGen gnomAD
rs1355924852 CA404501894	386	D>N		No	ClinGen TOPMed gnomAD
CA404499653 rs1319058001	388	I>V		No	ClinGen gnomAD
CA9266061 rs374745328	392	C>S		No	ClinGen ESP ExAC gnomAD
rs1302862019 CA404499546	393	S>C		No	ClinGen gnomAD
rs1599559109 CA404499510	395	C>S		No	ClinGen Ensembl
CA404499480 rs1328901813	397	F>L		No	ClinGen TOPMed gnomAD
CA9266058 rs764482753 COSM3822167	398	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA404499476 rs764482753	398	R>G		No	ClinGen ExAC gnomAD
CA9266057 rs763283589	398	R>H		No	ClinGen ExAC gnomAD
TCGA novel	398	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9266056 rs775782451 COSM3937910	401	D>H	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs775782451 CA404499436	401	D>N		No	ClinGen ExAC gnomAD
CA9266054 rs746292506	402	D>E		No	ClinGen ExAC TOPMed gnomAD
CA9266053 rs776784836	403	E>K		No	ClinGen ExAC TOPMed gnomAD
CA404499393 rs1399970440	404	E>K		No	ClinGen TOPMed
rs1276850016 CA404499389	404	E>V		No	ClinGen TOPMed
CA404499379 rs1234707645	406	Q>K		No	ClinGen TOPMed
rs142110198 CA9266052	406	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs61755985 CA9266050	407	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61755985 CA9266051	407	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772037464 CA9266049	410	Q>L		No	ClinGen ExAC gnomAD
rs747991542 CA9266048	412	K>R		No	ClinGen ExAC TOPMed gnomAD
CA404499279 rs1287957262	415	K>E		No	ClinGen TOPMed
CA305803671 rs758881073	416	E>D		No	ClinGen Ensembl
rs754959616 CA9266046	416	E>G		No	ClinGen ExAC gnomAD
rs1215099372 CA404499263	416	E>Q		No	ClinGen gnomAD
rs753707156 CA9266045	418	L>V		No	ClinGen ExAC TOPMed gnomAD
CA9266043 rs755547911	419	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs200109371 CA9266044	419	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA404499195 rs1568424426	422	S>N		No	ClinGen Ensembl
CA9266042 CA305803654 rs750125258	422	S>R		No	ClinGen ExAC TOPMed gnomAD
rs767177827 COSM438777 CA9266041	423	T>S	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs956723912 CA305803643	424	K>R		No	ClinGen Ensembl
CA9266040 rs761415408	426	P>H		No	ClinGen ExAC
CA404499148 rs61757660	427	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9266038 rs61757660	427	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9266036 rs776997042	430	V>L		No	ClinGen ExAC TOPMed gnomAD
rs776997042 CA9266037	430	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	442	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	445	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201453989 CA9266001 COSM1182384	447	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9266002 rs536847592	447	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs758017011 CA9266000	448	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754160659 CA9265999 COSM992166	448	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA404498968 rs1254665162	450	E>D		No	ClinGen TOPMed
CA404498974 rs1312940124	450	E>K		No	ClinGen TOPMed
CA404498964 rs1218925466	451	L>S		No	ClinGen gnomAD
CA9265997 rs139715279	453	E>Q		No	ClinGen ESP ExAC gnomAD
CA404498936 rs1191921591	455	E>K		No	ClinGen gnomAD
rs1263020783 CA404498923	456	T>I		No	ClinGen TOPMed
rs767746415 CA9265995	457	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA305803233 rs761963157	458	K>E		No	ClinGen ExAC TOPMed gnomAD
rs761963157 CA9265994	458	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA305803203 rs374602063	459	P>L		No	ClinGen ESP TOPMed gnomAD
rs113475650 RCV000887772 CA9265993	459	P>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9265992 rs184278305	461	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA305803186 rs201801143	462	D>G		No	ClinGen 1000Genomes
TCGA novel	462	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1450546468 CA404498887	463	P>A		No	ClinGen TOPMed gnomAD
rs1443202876 CA404498884	463	P>H		No	ClinGen gnomAD
rs1443202876 CA404498882	463	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA305803183 rs963109568	464	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs533062877 CA9265950	466	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA404498866 rs1295320581	466	G>R		No	ClinGen TOPMed
rs1189963170 CA404498326	467	I>T		No	ClinGen gnomAD
CA9265948 rs761408669	469	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	470	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs962665377 CA305802561	471	H>L		No	ClinGen TOPMed
CA9265945 CA404498181 rs748890822	473	F>L		No	ClinGen ExAC TOPMed gnomAD
rs758600630	473	F>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA9265946 rs768429460	473	F>L		No	ClinGen ExAC gnomAD
rs201828341 CA9265941	476	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA404498091 rs1340390312	480	H>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1599557815 CA404498081	480	H>P		No	ClinGen Ensembl
CA9265939 rs758778668	482	L>V		No	ClinGen ExAC TOPMed gnomAD
CA404497974 rs1281399736	485	D>N		No	ClinGen gnomAD
rs768804796 CA305802506	486	M>L		No	ClinGen Ensembl
rs377455281 CA9265936	486	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1166758130 CA404497913	487	L>V		No	ClinGen TOPMed gnomAD
CA404497849 rs754057316	491	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA9265935 rs754057316	491	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA9265934 rs766206242	491	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA9265933 rs762573325	492	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9265931 rs767522013	493	Q>H		No	ClinGen ExAC gnomAD
CA9265929 rs774012866	495	L>F		No	ClinGen ExAC TOPMed gnomAD
rs775251991 CA9265926	497	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs762759792 COSM181580 CA404497750	497	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA9265925 rs369955411	500	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9265923 rs773404765	502	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9265922 rs150603939	505	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748593622 CA9265921	505	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1399340934 CA404497601	506	H>Q		No	ClinGen gnomAD
CA9265920 rs779034859	506	H>R		No	ClinGen ExAC gnomAD
CA9265919 rs755021697	507	N>S		No	ClinGen ExAC gnomAD
CA305802459 rs917011855	508	R>C		No	ClinGen TOPMed gnomAD
rs1272082169 CA404497557	508	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs779932239 CA9265900 COSM213154	510	L>F	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs756373724 CA9265898	512	A>T		No	ClinGen ExAC gnomAD
CA9265897 rs746067463	513	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA305801295 rs531108041	514	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs757085860 CA9265895	518	T>I		No	ClinGen ExAC gnomAD
CA9265894 rs751596065	519	S>T		No	ClinGen ExAC gnomAD
rs1369399185 CA404496539	520	L>F		No	ClinGen TOPMed
CA404496530 rs1369399185	520	L>V		No	ClinGen TOPMed
CA404496510 rs1407622749	521	H>R		No	ClinGen TOPMed
CA9265893 rs764149757	522	V>M		No	ClinGen ExAC gnomAD
TCGA novel	523	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9265892 rs758367334	524	K>R		No	ClinGen ExAC gnomAD
rs1406016403 CA404496439	527	L>V		No	ClinGen gnomAD
CA305801242 rs76501168	528	N>K		No	ClinGen ExAC gnomAD
CA9265890 rs764590480	531	H>N		No	ClinGen ExAC TOPMed
CA404496365 rs1227485832	532	I>T		No	ClinGen TOPMed
CA9265889 rs141841312	533	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1186425037 CA404496303	537	E>Q		No	ClinGen gnomAD
rs1486903911 CA404496289	538	K>Q		No	ClinGen gnomAD
CA9265887 rs113780353	539	Y>C		No	ClinGen ExAC
rs1395733803 CA404495983	543	E>K		No	ClinGen gnomAD
rs1446120256 CA404495954	544	D>A		No	ClinGen gnomAD
CA404495873 rs1180884860	547	T>I		No	ClinGen gnomAD
CA404495814 rs1187703234	551	V>I		No	ClinGen gnomAD
CA9265855 rs748168148	553	P>R		No	ClinGen ExAC TOPMed
CA305796039 rs950117605	555	M>V		No	ClinGen Ensembl
CA9265852 rs753296829	557	G>E		No	ClinGen ExAC gnomAD
CA9265853 rs138139780	557	G>R		No	ClinGen ESP ExAC
TCGA novel	557	G>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	558	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404495674 rs1203564968	559	D>N		No	ClinGen gnomAD
CA404495651 rs1198090630	560	N>S		No	ClinGen TOPMed
TCGA novel	561	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1215201215 CA404495552	564	E>D		No	ClinGen gnomAD
CA404495567 rs1243576266	564	E>K		No	ClinGen gnomAD
rs1347298709 CA404495542	565	D>Y		No	ClinGen gnomAD
CA305796033 rs147009364	567	K>R		No	ClinGen ESP TOPMed
rs1555752602 CA9265848	568	E>D		No	ClinGen Ensembl
rs1301495550 CA404495464	568	E>G		No	ClinGen gnomAD
rs755822440 CA9265847	569	T>P		No	ClinGen ExAC gnomAD
CA9265845 rs764484665	570	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9265846 rs764484665	570	P>T		No	ClinGen ExAC TOPMed gnomAD
rs915900145 CA305796022	572	E>K		No	ClinGen Ensembl
CA404495389 rs1297892805	573	V>A		No	ClinGen gnomAD
CA404495377 rs1440484198	574	A>D		No	ClinGen gnomAD
CA9265843 rs765693748	575	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1472042670 CA404495374	575	A>T		No	ClinGen TOPMed
rs765693748 CA9265842	575	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1394013997 CA404495349	576	D>V		No	ClinGen gnomAD
CA404495340 rs1159356472	577	V>G		No	ClinGen Ensembl
CA9265838 rs138652097	577	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA305796013 rs909104923	578	L>V		No	ClinGen TOPMed
CA9265837 rs773549065	580	E>G		No	ClinGen ExAC gnomAD
rs200241726 CA9265836	581	V>A		No	ClinGen ExAC TOPMed gnomAD
CA404495310 rs200241726	581	V>G		No	ClinGen ExAC TOPMed gnomAD
CA9265835 rs747928960	582	I>M		No	ClinGen ExAC TOPMed gnomAD
rs774133689 CA9265834	583	T>I		No	ClinGen ExAC gnomAD
CA404495295 rs1278366290	584	A>E		No	ClinGen gnomAD
CA404495297 rs1485376392	584	A>P		No	ClinGen TOPMed gnomAD
rs375385159 CA9265831	586	V>E		No	ClinGen ESP ExAC gnomAD
rs749235652 CA9265832	586	V>L		No	ClinGen ExAC gnomAD
rs749235652 CA9265833	586	V>M		No	ClinGen ExAC gnomAD
CA9265830 rs755591473	588	A>S		No	ClinGen ExAC gnomAD
CA305796007 rs978900886	588	A>V		No	ClinGen TOPMed gnomAD
rs756893665 CA9265827	589	V>A		No	ClinGen ExAC gnomAD
rs150076099 CA9265828	589	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9265826 rs576285040	591	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs868558866 CA305795975	592	E>K		No	ClinGen Ensembl
CA404495239 rs765576072	594	A>E		No	ClinGen ExAC TOPMed gnomAD
rs765576072 CA404495238	594	A>G		No	ClinGen ExAC TOPMed gnomAD
CA9265825 rs765576072	594	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA305795970 rs921338802	595	P>A		No	ClinGen TOPMed
rs61757661 CA9265822	596	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1599553467 CA404495227	597	P>T		No	ClinGen Ensembl
CA305795951 rs1017698390	599	S>N		No	ClinGen Ensembl
CA9265820 rs773387673	599	S>R		No	ClinGen ExAC gnomAD
CA9265819 rs767857353	600	S>T		No	ClinGen ExAC gnomAD
rs1260330774 CA404495196	601	G>E		No	ClinGen gnomAD
CA9265817 CA404495200 COSM355656 rs774075327	601	G>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs370347087 CA305795920	602	E>D		No	ClinGen ESP gnomAD
rs768497457 CA9265816	602	E>Q		No	ClinGen ExAC gnomAD
rs375669146 CA9265815	603	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1271119677 CA404495187	603	P>S		No	ClinGen gnomAD
rs745410158 CA404495073 CA305795916	606	D>E		No	ClinGen ExAC TOPMed gnomAD
CA305795911 rs146444610	607	E>A		No	ClinGen ESP gnomAD
CA9265811 rs374086322	607	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs777574889 CA305795908	609	P>L		No	ClinGen Ensembl
rs376050255 CA9265809	609	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs950616458 CA305795894	610	T>A		No	ClinGen TOPMed gnomAD
CA9265808 rs144064099 COSM144641	610	T>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs950616458 CA404495025	610	T>S		No	ClinGen TOPMed gnomAD
CA404495005 rs1349891526	611	D>E		No	ClinGen TOPMed gnomAD
CA9265807 rs755337627	611	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	613	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375883591 CA9265806	613	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA305795860 rs1045858384	615	A>V		No	ClinGen Ensembl
CA9265802 rs767626174	616	G>D		No	ClinGen ExAC TOPMed gnomAD
CA9265803 rs200385214	616	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1213418255 CA404494926	617	S>N		No	ClinGen gnomAD
CA404494909 rs1234503786	618	D>G		No	ClinGen gnomAD
rs751777249 CA9265800	618	D>N		No	ClinGen ExAC gnomAD
CA404494878 rs1294151965	620	Q>*		No	ClinGen gnomAD
rs1599553338 CA404494865	621	A>T		No	ClinGen Ensembl
rs1599553334 CA404494857	621	A>V		No	ClinGen Ensembl
CA9265798 COSM709701 rs571638097	622	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA404494852 rs571638097	622	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775222031 CA9265797	623	Q>*		No	ClinGen ExAC gnomAD
rs1044518760 CA305795815	630	P>L		No	ClinGen TOPMed
rs1471310048 CA404494708	630	P>S		No	ClinGen Ensembl
CA404494696 rs1568422044	631	C>R		No	ClinGen Ensembl
CA404494683 rs1409813268	632	G>R		No	ClinGen Ensembl
CA9265792 rs148784064	633	T>M		No	ClinGen ESP ExAC gnomAD
rs148784064 CA404494668	633	T>R		No	ClinGen ESP ExAC gnomAD
rs770469145 CA9265790	635	H>P		No	ClinGen ExAC gnomAD
rs1160119484 CA404494634	636	E>K		No	ClinGen TOPMed
TCGA novel	639	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9265788 rs777457097	639	V>I		No	ClinGen ExAC TOPMed gnomAD
CA404494552 rs1392876105	641	K>Q		No	ClinGen TOPMed
rs1193297378 CA404494526	643	R>T		No	ClinGen gnomAD
rs1467408566 CA404494487	646	A>V		No	ClinGen TOPMed gnomAD
rs1568422012 CA404494484	647	A>T		No	ClinGen Ensembl
CA404494474 rs1599553265	647	A>V		No	ClinGen Ensembl
CA9265787 rs771586432	648	E>G		No	ClinGen ExAC gnomAD
rs1214709424 CA404494450	649	A>G		No	ClinGen gnomAD
rs1368833958 CA404494456	649	A>T		No	ClinGen TOPMed
rs780508322 CA9265785	651	N>K		No	ClinGen ExAC gnomAD
CA305795778 rs866119603	652	G>V		No	ClinGen Ensembl
CA9265783 rs569129129	653	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA9265781 rs145418809	654	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA404494349 rs764405941	658	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9265779 rs764405941	658	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1387158337 CA404494345	659	E>Q		No	ClinGen TOPMed gnomAD
rs763092973 CA9265778	660	A>T		No	ClinGen ExAC gnomAD
CA305795765 rs947540357	661	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs752498693 CA9265777	662	S>G		No	ClinGen ExAC gnomAD
rs752498693 CA404494304	662	S>R		No	ClinGen ExAC gnomAD
CA404494276 rs1390931974	664	Q>E		No	ClinGen gnomAD
VAR_036534	664	Q>H	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs1173249581 CA404494272	664	Q>P		No	ClinGen gnomAD
CA404494261 rs1599553205	665	T>P		No	ClinGen Ensembl
rs1397131057 CA404494247	666	R>G		No	ClinGen gnomAD
CA9265775 rs369631726	666	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA404494225 rs1259154452	667	V>G		No	ClinGen gnomAD
rs776598548 CA9265774	667	V>I		No	ClinGen ExAC gnomAD
rs985785885 CA305795719	671	P>A		No	ClinGen Ensembl
rs760265810 CA9265771	671	P>L		No	ClinGen ExAC
rs1481319848 CA404494170	672	A>V		No	ClinGen gnomAD
rs139907510 CA404494151	674	A>S		No	ClinGen ESP TOPMed gnomAD
rs139907510 CA9265767	674	A>T		No	ClinGen ESP TOPMed gnomAD
CA9265766 rs560315178	674	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404494144 rs1369954322	675	D>N		No	ClinGen TOPMed
CA404494091 rs1599553137	678	V>G		No	ClinGen Ensembl
rs1305220315 CA404494100	678	V>L		No	ClinGen gnomAD
CA404494055 rs1285760515	680	Q>P		No	ClinGen gnomAD
rs201831883 CA9265764	682	D>E		No	ClinGen ExAC TOPMed gnomAD
CA404494010 rs1233669054	682	D>V		No	ClinGen gnomAD
rs768511127 CA9265763	683	A>G		No	ClinGen ExAC TOPMed gnomAD
CA404493962 rs781734939	685	S>C		No	ClinGen ExAC TOPMed gnomAD
rs781734939 CA9265762	685	S>F		No	ClinGen ExAC TOPMed gnomAD
CA404493964 rs781734939	685	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1599553099 CA404493948	686	K>I		No	ClinGen Ensembl
CA9265758 rs758673111	688	A>G		No	ClinGen ExAC gnomAD
rs749222352 CA9265759	688	A>T		No	ClinGen ExAC gnomAD
CA9265757 rs145842466	689	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9265756 rs765056046	690	P>L		No	ClinGen ExAC gnomAD
CA404493859 rs1315326512	691	T>R		No	ClinGen TOPMed

No associated diseases with O43823

3 regional properties for O43823

Type	Name	Position	InterPro Accession
conserved_site	Aldo/keto reductase, conserved site	143 - 160	IPR018170-1
conserved_site	Aldo/keto reductase, conserved site	254 - 269	IPR018170-2
domain	NADP-dependent oxidoreductase domain	20 - 286	IPR023210

Functions

		Description
EC Number
Subcellular Localization	Nucleus Nucleus matrix Nucleus, nucleolus Cytoplasm	Associated with the nuclear matrix in interphase and redistributes mostly to chromatin at mitosis However, mitotic chromatin localization has been questioned Upon nuclear reassembly at the end of mitosis, is sequestered into the daughter nuclei where it re-acquires an interphase distribution Exhibits partial localization to the nucleolus in interphase, where it colocalizes with UBTF/UBF, suggesting localization to the fibrillary center and/or to the dense fibrillary component Colocalizes with GJA1 at the nuclear membrane specifically during cell cycle G1/S phase
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
condensed chromosome	A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct structure.
female pronucleus	The pronucleus originating from the ovum that is being fertilized.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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 matrix	The dense fibrillar network lying on the inner side of the nuclear membrane.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
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.

6 GO annotations of molecular function

Name	Definition
double-stranded DNA binding	Binding to double-stranded DNA.
histone deacetylase binding	Binding to histone deacetylase.
NF-kappaB binding	Binding to NF-kappaB, a transcription factor for eukaryotic RNA polymerase II promoters.
protein kinase A regulatory subunit binding	Binding to one or both of the regulatory subunits of protein kinase A.
RNA binding	Binding to an RNA molecule or a portion thereof.
zinc ion binding	Binding to a zinc ion (Zn).

10 GO annotations of biological process

Name	Definition
cell cycle G2/M phase transition	The cell cycle process by which a cell in G2 phase commits to M phase.
cellular response to lipopolysaccharide	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 lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
cellular response to prostaglandin E 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 prostagladin E stimulus.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
mitotic cell cycle	Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent.
mitotic chromosome condensation	The cell cycle process in which chromatin structure is compacted prior to and during mitosis in eukaryotic cells.
negative regulation of tumor necrosis factor production	Any process that stops, prevents, or reduces the frequency, rate, or extent of tumor necrosis factor production.
positive regulation of histone deacetylation	Any process that activates or increases the frequency, rate or extent of the removal of acetyl groups from histones.
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5BKZ1	ZNF326	DBIRD complex subunit ZNF326	Homo sapiens (Human)	PR
Q9DBR0	Akap8	A-kinase anchor protein 8	Mus musculus (Mouse)	PR
Q63014	Akap8	A-kinase anchor protein 8	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MDQGYGGYGA	WSAGPANTQG	AYGTGVASWQ	GYENYNYYGA	QNTSVTTGAT	YSYGPASWEA
70	80	90	100	110	120
AKANDGGLAA	GAPAMHMASY	GPEPCTDNSD	SLIAKINQRL	DMMSKEGGRG	GSGGGGEGIQ
130	140	150	160	170	180
DRESSFRFQP	FESYDSRPCL	PEHNPYRPSY	SYDYEFDLGS	DRNGSFGGQY	SECRDPARER
190	200	210	220	230	240
GSLDGFMRGR	GQGRFQDRSN	PGTFMRSDPF	VPPAASSEPL	STPWNELNYV	GGRGLGGPSP
250	260	270	280	290	300
SRPPPSLFSQ	SMAPDYGVMG	MQGAGGYDST	MPYGCGRSQP	RMRDRDRPKR	RGFDRFGPDG
310	320	330	340	350	360
TGRKRKQFQL	YEEPDTKLAR	VDSEGDFSEN	DDAAGDFRSG	DEEFKGEDEL	CDSGRQRGEK
370	380	390	400	410	420
EDEDEDVKKR	REKQRRRDRT	RDRAADRIQF	ACSVCKFRSF	DDEEIQKHLQ	SKFHKETLRF
430	440	450	460	470	480
ISTKLPDKTV	EFLQEYIVNR	NKKIEKRRQE	LMEKETAKPK	PDPFKGIGQE	HFFKKIEAAH
490	500	510	520	530	540
CLACDMLIPA	QPQLLQRHLH	SVDHNHNRRL	AAEQFKKTSL	HVAKSVLNNR	HIVKMLEKYL
550	560	570	580	590	600
KGEDPFTSET	VDPEMEGDDN	LGGEDKKETP	EEVAADVLAE	VITAAVRAVD	GEGAPAPESS
610	620	630	640	650	660
GEPAEDEGPT	DTAEAGSDPQ	AEQLLEEQVP	CGTAHEKGVP	KARSEAAEAG	NGAETMAAEA
670	680	690
ESAQTRVAPA	PAAADAEVEQ	TDAESKDAVP	TE