AiPD: Autoinhibited Protein Database

Q08050

Gene name	FOXM1 (FKHL16, HFH11, MPP2, WIN)
Protein name	Forkhead box protein M1
Names	Forkhead-related protein FKHL16, Hepatocyte nuclear factor 3 forkhead homolog 11, HFH-11, HNF-3/fork-head homolog 11, M-phase phosphoprotein 2, MPM-2 reactive phosphoprotein 2, Transcription factor Trident, Winged-helix factor from INS-1 cells
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2305
EC number
Protein Class	FORKHEAD BOX PROTEIN M1 (PTHR46878)

Descriptions

Forkhead transcription factor FoxM1 is an important regulator of gene expression during the G2 phase. Truncated form of FoxM1 that is lacking the N-terminal autorepressor domain (negative regulatory domain) is active throughout the cell cycle and no longer depends on cyclin A for its activation. FoxM1 activity is kept low due to repression by its own N-terminal domain through direct binding to the C-terminal transactivation domain.

Autoinhibitory domains (AIDs)

Target domain	589-763 (C-terminal transactivation domain)
Relief mechanism	PTM
Assay	Deletion assay, Mutagenesis experiment

AID

1-189 (N-terminal autorepressor domain)

Target domain

589-763 (C-terminal transactivation domain)

Relief mechanism

PTM (Cyclin A/CDK2- or Cyclin E/CDK2-mediated phosphorylation on C-terminal transactivation domain during G2 phase)

Assay

Deletion assay, Mutagenesis experiment

Accessory elements

No accessory elements

References

Laoukili J et al. (2008) "Activation of FoxM1 during G2 requires cyclin A/Cdk-dependent relief of autorepression by the FoxM1 N-terminal domain", Molecular and cellular biology, 28, 3076-87

Lüscher-Firzlaff JM et al. (2006) "Regulation of the transcription factor FOXM1c by Cyclin E/CDK2", FEBS letters, 580, 1716-22

Autoinhibited structure

Activated structure

3 structures for Q08050

Entry ID	Method	Resolution	Chain	Position	Source
3G73	X-ray	221 A	A/B	222-360	PDB
7FJ2	X-ray	310 A	A/B/E/F	222-337	PDB
AF-Q08050-F1	Predicted				AlphaFoldDB

585 variants for Q08050

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1603502074 CA383399775	3	T>P		No	ClinGen Ensembl
RCV000879818 rs141301985 CA6392154	6	R>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs762515798 CA6392153	6	R>H		No	ClinGen ExAC TOPMed gnomAD
rs761715940 CA6392150	7	R>P		No	ClinGen ExAC gnomAD
CA6392151 rs761715940	7	R>Q		No	ClinGen ExAC gnomAD
CA6392152 rs368553008	7	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1312257131 CA383399706	10	I>V		No	ClinGen TOPMed
rs959050850 CA231662198	12	K>R		No	ClinGen TOPMed gnomAD
CA6392148 rs769031982	13	R>K		No	ClinGen ExAC TOPMed gnomAD
CA383399658 rs1482709398	14	R>Q		No	ClinGen TOPMed
rs747282501 CA6392147	14	R>W		No	ClinGen ExAC gnomAD
CA383399641 rs1287280980	15	R>S		No	ClinGen gnomAD
rs201026192 CA6392146	16	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs373526321 CA231662138	17	P>S		No	ClinGen ESP
CA383399612 rs1603502065	18	L>F		No	ClinGen Ensembl
rs772107957 CA6392145	20	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1448032723 CA383399562	22	N>S		No	ClinGen gnomAD
CA383399547 rs1320389700	24	P>L		No	ClinGen gnomAD
CA6392142 rs745892836	25	S>G		No	ClinGen ExAC gnomAD
CA6392141 rs779297675	26	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1476301375 CA383399531	27	T>A		No	ClinGen gnomAD
rs757710622 CA6392140	27	T>I		No	ClinGen ExAC TOPMed gnomAD
CA383399500 rs1565479797	31	E>D		No	ClinGen Ensembl
rs749681249 CA6392139	31	E>G		No	ClinGen ExAC TOPMed gnomAD
rs778147669 CA383399494	32	P>S		No	ClinGen ExAC gnomAD
CA6392138 rs778147669	32	P>T		No	ClinGen ExAC gnomAD
rs756452185 CA6392137	34	R>T		No	ClinGen ExAC gnomAD
rs751233214 CA6392136	36	P>S		No	ClinGen ExAC gnomAD
rs779755670 CA6392135	39	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1206501542 CA383399388	40	E>G		No	ClinGen gnomAD
CA6392134 rs757854703	40	E>K		No	ClinGen ExAC gnomAD
CA6392133 rs774339520	41	S>A		No	ClinGen ExAC gnomAD
CA383399350 rs1313939082	43	Q>R		No	ClinGen gnomAD
CA231662085 rs1003778135	45	E>D		No	ClinGen Ensembl
rs1242479607 CA383399324	45	E>Q		No	ClinGen gnomAD
CA383399289 rs1377658782	48	K>T		No	ClinGen TOPMed gnomAD
CA6392132 rs199692424	49	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA231662064 rs866336465	50	V>A		No	ClinGen Ensembl
CA231662051 rs982128071	54	N>T		No	ClinGen TOPMed
rs761802062 CA6392131	56	C>S		No	ClinGen ExAC gnomAD
CA383399187 rs1318615872	56	C>W		No	ClinGen gnomAD
rs764037616 CA6392129	57	K>N		No	ClinGen ExAC gnomAD
rs753796253 CA6392130	57	K>T		No	ClinGen ExAC gnomAD
rs1178376466 CA383399139	60	A>V		No	ClinGen TOPMed
rs1388814934 CA383399123	62	I>S		No	ClinGen TOPMed
CA383399078 rs1308957578	65	I>T		No	ClinGen TOPMed
rs760513381 CA6392128	67	H>N		No	ClinGen ExAC gnomAD
rs1603502045 CA383399055	67	H>P		No	ClinGen Ensembl
rs775577156 CA6392127	67	H>Q		No	ClinGen ExAC gnomAD
rs948350959 CA231662000	69	T>A		No	ClinGen Ensembl
rs948350959 CA231662006	69	T>P		No	ClinGen Ensembl
CA383398996 rs1434849229	71	P>R		No	ClinGen TOPMed
rs759553649 CA6392125	72	N>S		No	ClinGen ExAC gnomAD
rs774447889 CA6392124	73	T>M		No	ClinGen ExAC TOPMed gnomAD
CA383398968 rs1489288714	74	Q>K		No	ClinGen TOPMed gnomAD
CA6392123 rs770962742	75	V>I		No	ClinGen ExAC gnomAD
rs200595908 CA6392122	78	I>F		No	ClinGen 1000Genomes ExAC gnomAD
CA6392121 rs200595908	78	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs915682006 CA231661971	79	P>H		No	ClinGen gnomAD
CA383398916 rs915682006	79	P>L		No	ClinGen gnomAD
CA383398849 rs1341308632	85	H>Y		No	ClinGen TOPMed
rs1196473651 CA383398830	86	S>N		No	ClinGen Ensembl
CA383398813 rs1229869751	87	I>T		No	ClinGen gnomAD
rs572690460 CA231661915	89	T>I		No	ClinGen 1000Genomes
rs1276426959 CA383398776	90	A>G		No	ClinGen TOPMed
rs1365062563 CA383398752	93	A>T		No	ClinGen gnomAD
rs1443130756 CA383398692	97	E>D		No	ClinGen gnomAD
CA231661895 rs971652336	97	E>Q		No	ClinGen TOPMed
rs779590168 CA6392118	98	S>I		No	ClinGen ExAC TOPMed gnomAD
CA231661880 rs941484184	100	S>R		No	ClinGen Ensembl
rs908621487 CA231661870	101	S>G		No	ClinGen Ensembl
rs1246315977 CA383398632	102	G>A		No	ClinGen TOPMed
rs758020949 CA6392117	102	G>R		No	ClinGen ExAC gnomAD
CA6392115 rs778609028	103	P>S		No	ClinGen ExAC gnomAD
rs756812715 CA6392114	111	C>R		No	ClinGen ExAC gnomAD
rs753892063 CA6392113	111	C>Y		No	ClinGen ExAC gnomAD
CA6392112 rs764056083	112	G>W		No	ClinGen ExAC gnomAD
CA6392111 rs760399764	113	G>E		No	ClinGen ExAC gnomAD
rs1192945808 CA383398488	113	G>R		No	ClinGen TOPMed
rs143176882 CA6392110	115	P>L		No	ClinGen ESP ExAC TOPMed
CA6392109 rs767659718	116	T>I		No	ClinGen ExAC TOPMed gnomAD
CA383398458 rs1434325724	116	T>P		No	ClinGen gnomAD
rs1434325724 CA383398455	116	T>S		No	ClinGen gnomAD
CA6392107 rs774531049	117	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1254466376 CA383398434	118	P>S		No	ClinGen gnomAD
rs771060477 CA6392106	119	P>A		No	ClinGen ExAC gnomAD
rs763018680 CA6392105	119	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1235550561 CA383398399 COSM3811823	121	L>I	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6392103 rs770281136	121	L>P		No	ClinGen ExAC TOPMed gnomAD
CA231661735 rs145192590	122	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145192590 CA6392101	122	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6392102 rs149122661	122	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA383398328 rs1375790093	127	T>I		No	ClinGen gnomAD
rs1375790093 CA383398331	127	T>N		No	ClinGen gnomAD
CA6392100 rs768873988	129	Y>S		No	ClinGen ExAC gnomAD
rs778703035 CA6392099	130	D>E		No	ClinGen ExAC gnomAD
rs1369913975 CA383398286	131	A>T		No	ClinGen gnomAD
CA383398278 rs1317885443	131	A>V		No	ClinGen TOPMed
CA383398266 rs1435268890	132	K>N		No	ClinGen TOPMed
CA6392096 rs576516851	141	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs140520587 CA6392095	142	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1174742727 CA383398128	145	P>H		No	ClinGen gnomAD
CA383398117 rs1431153104	146	A>G		No	ClinGen gnomAD
CA231661670 rs911762663	147	A>D		No	ClinGen TOPMed
rs1413640687 CA383398114	147	A>S		No	ClinGen TOPMed gnomAD
rs530573298 CA231661656	148	R>G		No	ClinGen Ensembl
CA383398088 rs756035595	149	D>G		No	ClinGen ExAC TOPMed gnomAD
rs756035595 CA6392094	149	D>V		No	ClinGen ExAC TOPMed gnomAD
rs982768057 CA231661636	150	V>M		No	ClinGen Ensembl
rs1482910488 CA383398071	151	N>H		No	ClinGen gnomAD
rs370033515 CA6392093	155	P>S		No	ClinGen ESP ExAC gnomAD
rs1202754116 CA383398010	158	A>S		No	ClinGen gnomAD
CA231661633 rs34712310	158	A>V		No	ClinGen TOPMed gnomAD
CA383398005 rs1382743736	159	L>F		No	ClinGen TOPMed gnomAD
rs754712516 CA383397994	160	C>W		No	ClinGen ExAC TOPMed gnomAD
rs201000406 CA6392090	161	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6392089 rs766523724	162	Q>H		No	ClinGen ExAC gnomAD
rs763038867 CA6392088	163	K>E		No	ClinGen ExAC TOPMed gnomAD
rs765695581 CA6392086	164	R>Q		No	ClinGen ExAC gnomAD
COSM1476487 rs143720765 CA6392087	164	R>W	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs371297304 CA6392084	166	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs371297304 CA6392085	166	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6392072 rs751301875	170	G>A		No	ClinGen ExAC gnomAD
rs980732367 CA231659920	171	E>K		No	ClinGen TOPMed
CA231659894 rs921595507	173	A>T		No	ClinGen TOPMed gnomAD
CA6392070 rs771059271	173	A>V		No	ClinGen ExAC gnomAD
CA6392069 rs750613038	175	C>Y		No	ClinGen ExAC gnomAD
CA383397591 rs1249659361	178	N>H		No	ClinGen gnomAD
CA6392068 rs765408731	178	N>S		No	ClinGen ExAC gnomAD
rs199924724 CA6392067	179	N>S		No	ClinGen 1000Genomes ExAC
rs116425032 CA6392066 RCV000965877	180	S>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA383397543 rs1186115009	182	S>F		No	ClinGen gnomAD
rs1204865570 CA383397520	184	I>V		No	ClinGen Ensembl
CA6392063 rs775957382	186	W>C		No	ClinGen ExAC gnomAD
rs772530435 CA383397450	188	R>L		No	ClinGen ExAC TOPMed gnomAD
rs772530435 CA6392062	188	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs747166060 CA231659848	189	K>N		No	ClinGen Ensembl
CA6392061 rs551996961	192	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs551996961 CA383397367	192	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs978350434 CA231659834	195	L>P		No	ClinGen gnomAD
rs978350434 CA383397335	195	L>R		No	ClinGen gnomAD
CA383397330 rs1211449949	196	G>C		No	ClinGen gnomAD
CA383397328 rs1356726612	196	G>D		No	ClinGen gnomAD
CA6392060 rs772724067	198	R>C		No	ClinGen ExAC TOPMed gnomAD
rs769409425 CA6392059	198	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6392057 rs781204794	199	S>N		No	ClinGen ExAC gnomAD
rs1182246756 CA383397252	201	K>N		No	ClinGen Ensembl
CA6392055 rs746841790	201	K>R		No	ClinGen ExAC gnomAD
CA6392054 rs150676642	202	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs142971862 CA6392053	204	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA383397168 rs1316418710	206	E>K		No	ClinGen gnomAD
rs1326198528 CA383397128	208	E>K		No	ClinGen Ensembl
rs779000560 CA6392051	211	H>D		No	ClinGen ExAC gnomAD
CA231659805 rs778018704	212	L>P		No	ClinGen TOPMed
rs778018704 CA231659804	212	L>R		No	ClinGen TOPMed
CA6392050 rs757370268	215	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6392049 rs753811875	216	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1447691383 CA383396967	217	V>I		No	ClinGen gnomAD
CA383396249 rs1423598742	220	E>D		No	ClinGen TOPMed
CA383396255 rs1383834789	220	E>K		No	ClinGen TOPMed
CA6392030 rs756246082	221	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1204401834 CA383396239	222	P>A		No	ClinGen gnomAD
rs1204401834 CA383396240	222	P>T		No	ClinGen gnomAD
rs148573089 CA6392029	223	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs148573089 CA231651006	223	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1200476575 CA383396219	225	P>Q		No	ClinGen gnomAD
CA383396223 rs1317477087	225	P>T		No	ClinGen TOPMed
rs1176724254 CA383396211	227	A>T		No	ClinGen TOPMed gnomAD
rs144843550 CA6392027 COSM1361129	227	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1261680701 CA383396185	230	Q>H		No	ClinGen Ensembl
rs751824568 CA6392026	230	Q>K		No	ClinGen ExAC gnomAD
CA231650992 rs942113269	231	N>I		No	ClinGen TOPMed gnomAD
rs184039061 CA6392025	232	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6392022 rs143382475	235	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs776324631 CA6392023	235	E>Q		No	ClinGen ExAC gnomAD
rs760175330 CA6392021	236	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1404221608 CA383396125	240	S>F		No	ClinGen gnomAD
CA6392020 rs775412444	242	M>V		No	ClinGen ExAC gnomAD
rs771945841 CA6392019	244	M>L		No	ClinGen ExAC gnomAD
CA383396068 rs1176399807	248	A>V		No	ClinGen gnomAD
CA6392014 rs137928577	256	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs756264779 CA6392013	256	R>P		No	ClinGen ExAC gnomAD
rs1329420938 CA383395960	263	Y>C		No	ClinGen gnomAD
CA6392012 rs373633160	264	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6392011 rs781771036	272	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA6392007 rs758778186	276	I>V		No	ClinGen ExAC gnomAD
rs1603501145 CA383395817	278	K>R		No	ClinGen Ensembl
rs1388111310 CA383395797	280	G>A		No	ClinGen gnomAD
rs748271869 CA6391995	286	R>C		No	ClinGen ExAC TOPMed gnomAD
rs781464913 CA6391994	286	R>H		No	ClinGen ExAC gnomAD
CA6391991 rs780607249	293	D>E		No	ClinGen ExAC TOPMed gnomAD
CA6391988 rs750730928	294	M>T		No	ClinGen ExAC gnomAD
rs758695261 CA6391990	294	M>V		No	ClinGen ExAC TOPMed gnomAD
CA6391986 rs755801968	297	R>Q		No	ClinGen ExAC gnomAD
CA6391984 rs369008241	299	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA231649917 rs747566493	305	V>A		No	ClinGen gnomAD
rs1356715142 CA383394919	311	H>Q		No	ClinGen TOPMed
rs774157004 CA6391982	312	P>S		No	ClinGen ExAC gnomAD
rs774157004 CA383394917	312	P>T		No	ClinGen ExAC gnomAD
rs1309718896 CA383394904	314	A>T		No	ClinGen gnomAD
rs374671659 CA6391980	316	R>C		No	ClinGen ESP ExAC gnomAD
rs781264755 CA231649901	316	R>H		No	ClinGen Ensembl
CA6391978 COSM415895 rs769684541	318	L>F	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA383394875 rs1425360029	318	L>S		No	ClinGen gnomAD
rs1479633788 CA383394849	322	Q>*		No	ClinGen gnomAD
CA231649880 rs920268372	325	K>Q		No	ClinGen TOPMed
CA6391963 rs763027795	327	L>M		No	ClinGen ExAC gnomAD
CA6391962 rs561971377	328	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150152924 CA231649391	329	P>Q		No	ClinGen ESP TOPMed
CA6391961 rs765186258	330	G>V		No	ClinGen ExAC TOPMed gnomAD
rs761695860 CA6391960	331	S>A		No	ClinGen ExAC gnomAD
rs368240600 CA6391959	333	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA383394771 rs1239419720	333	Q>P		No	ClinGen gnomAD
CA6391958 rs768867271	334	L>F		No	ClinGen ExAC gnomAD
CA383394758 rs1565469843	335	P>S		No	ClinGen Ensembl
CA6391955 rs148049927	336	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383394754 rs148049927	336	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383394683 rs1192802207	342	Q>H		No	ClinGen gnomAD
rs752962627 CA6391931	344	R>*		No	ClinGen ExAC gnomAD
rs752962627 CA6391930	344	R>G		No	ClinGen ExAC gnomAD
rs746734860 CA6391929	344	R>Q		No	ClinGen ExAC gnomAD
CA231649089 rs900046597	345	P>L		No	ClinGen TOPMed gnomAD
rs1233048288 CA383394669	345	P>S		No	ClinGen TOPMed
rs1221742113 CA383394657	347	P>A		No	ClinGen TOPMed
CA383394648 rs1290893169	348	E>G		No	ClinGen gnomAD
CA231649075 rs974218815	349	L>R		No	ClinGen TOPMed
rs146299415 CA6391926 COSM1717044	350	R>C	NS [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs577007302 CA6391925	350	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6391922 rs143532828	351	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6391923 rs143532828	351	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6391924 rs200486055	351	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs80022864 CA231649064	353	M>L		No	ClinGen gnomAD
rs1365535865 CA383394620	353	M>T		No	ClinGen gnomAD
rs80022864 CA383394625	353	M>V		No	ClinGen gnomAD
rs1211277689 CA383394599	355	I>V		No	ClinGen Ensembl
CA6391919 rs767668214	358	E>D		No	ClinGen ExAC gnomAD
CA6391920 rs376160082	358	E>K		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA6391918 rs759633706	359	L>F		No	ClinGen ExAC gnomAD
rs552495230 CA231649050	360	P>T		No	ClinGen gnomAD
CA383394523 rs1473875348	362	G>D		No	ClinGen TOPMed
CA6391916 rs774372195	363	A>T		No	ClinGen ExAC TOPMed gnomAD
rs140482241 CA231649034	364	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6391890 rs759317474	365	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs896203050 CA231648887	365	R>W		No	ClinGen Ensembl
rs1342381771 CA383394453	366	K>R		No	ClinGen gnomAD
CA383394390 rs1404103036	372	P>S		No	ClinGen gnomAD
CA6391886 rs769577617	373	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6391885 rs769577617	373	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA383394378 rs1173991172	373	R>W		No	ClinGen TOPMed gnomAD
rs992229214 CA231648855	374	V>D		No	ClinGen TOPMed
CA6391884 rs748086049	377	Y>C		No	ClinGen ExAC gnomAD
CA231648849 rs368844245	378	L>V		No	ClinGen gnomAD
CA383394316 rs1240841577	379	V>E		No	ClinGen gnomAD
CA383394322 rs141320223	379	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs141320223 CA6391881	379	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA383394312 rs1440993770	380	P>A		No	ClinGen TOPMed
CA6391879 rs758522391	381	I>F		No	ClinGen ExAC gnomAD
rs758522391 CA231648839	381	I>V		No	ClinGen ExAC gnomAD
rs150024483 CA6391878	384	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1315833021 CA383394222	388	S>T		No	ClinGen gnomAD
rs1226629281 CA383394203	390	V>L		No	ClinGen TOPMed
rs1245249155 CA383394173	392	Q>H		No	ClinGen TOPMed gnomAD
rs754381527 CA6391875	393	P>H		No	ClinGen ExAC TOPMed gnomAD
CA6391876 rs762269481	393	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6391874 rs552947229	394	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1317362780 CA383394143	396	K>E		No	ClinGen gnomAD
CA383394136 rs1398895279	396	K>R		No	ClinGen gnomAD
rs762554665 CA6391870	397	V>A		No	ClinGen ExAC gnomAD
VAR_025239 rs28990715 CA6391865	402	A>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6391866 rs28990715	402	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383394057 rs1214014267	404	S>P		No	ClinGen gnomAD
rs750630091 CA6391861	406	M>I		No	ClinGen ExAC gnomAD
rs530641866 CA6391862	406	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA6391860 rs199742628	409	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6391859 rs757351977	410	L>F		No	ClinGen ExAC
CA383393979 rs1603500311	411	A>P		No	ClinGen Ensembl
rs139435894 CA6391857	412	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6391858 rs139435894	412	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs147362692 CA6391856	412	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA383393935 rs1367397849	415	K>E		No	ClinGen gnomAD
CA383393929 rs1325881700	415	K>R		No	ClinGen Ensembl
rs1303736566 CA383393921	416	R>*		No	ClinGen gnomAD
CA231648740 rs1020586027	416	R>Q		No	ClinGen Ensembl
CA231648739 rs142750039	417	V>L		No	ClinGen ESP TOPMed
rs1171887999 CA383393902	418	R>C		No	ClinGen TOPMed gnomAD
COSM1746917 rs369843426 CA231648718	418	R>H	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
CA383393891 rs1231222576	419	I>T		No	ClinGen TOPMed
rs745456647 CA6391854	419	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1603500291 CA383393858	422	K>R		No	ClinGen Ensembl
CA383392135 rs758750879	423	V>L		No	ClinGen ExAC TOPMed gnomAD
rs758750879 CA6391786	423	V>L		No	ClinGen ExAC TOPMed gnomAD
rs921890135 CA231646244	424	L>P		No	ClinGen gnomAD
rs1285576061 CA383392024	429	G>E		No	ClinGen gnomAD
CA6391784 rs777346057	429	G>R		No	ClinGen ExAC gnomAD
rs1442833161 CA383392006	430	I>T		No	ClinGen TOPMed
rs1406107190 CA383392017	430	I>V		No	ClinGen gnomAD
CA231646237 rs201705172	432	P>R		No	ClinGen TOPMed gnomAD
rs1345361849 CA383391976	433	L>F		No	ClinGen gnomAD
CA383391972 rs1321704713	433	L>P		No	ClinGen gnomAD
CA6391783 rs763608696	437	G>E		No	ClinGen ExAC TOPMed gnomAD
rs569199069 CA231646229	438	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6391782 rs569199069	438	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555339805 CA231646219	441	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555339805 CA6391780	441	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6391779 rs535412629	442	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383391836 rs1459300681	445	L>Q		No	ClinGen TOPMed
rs766342084 CA383391826	446	F>C		No	ClinGen ExAC TOPMed gnomAD
CA6391777 rs762768266	446	F>L		No	ClinGen ExAC TOPMed gnomAD
CA6391778 rs766342084	446	F>S		No	ClinGen ExAC TOPMed gnomAD
CA383391820 rs1268043382	447	G>A		No	ClinGen gnomAD
rs1157284265 CA383391822	447	G>R		No	ClinGen TOPMed gnomAD
CA383391811 rs1348248458	448	E>D		No	ClinGen TOPMed
CA383391814 rs1335763734	448	E>G		No	ClinGen TOPMed
rs773583974 CA231646209	449	G>A		No	ClinGen ExAC TOPMed gnomAD
CA6391776 rs773583974	449	G>E		No	ClinGen ExAC TOPMed gnomAD
VAR_025240 COSM938598 CA6391775 rs28919868	450	F>L	endometrium [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs761830266 CA6391774	451	S>F		No	ClinGen ExAC gnomAD
rs1194938006 CA383391794	452	P>T		No	ClinGen TOPMed gnomAD
rs1230941134 CA383391780	454	L>V		No	ClinGen TOPMed
CA383391743 rs1315667351	459	I>M		No	ClinGen TOPMed gnomAD
rs776815658 CA6391773	460	K>M		No	ClinGen ExAC gnomAD
rs768600295 CA6391772	467	G>E		No	ClinGen ExAC gnomAD
CA6391771 rs145537744	469	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA383391666 rs1444956489	470	M>T		No	ClinGen TOPMed gnomAD
rs1336504689 CA383391659	471	P>S		No	ClinGen gnomAD
rs1444862763 CA383391636	474	A>G		No	ClinGen TOPMed gnomAD
rs1444862763 CA383391635	474	A>V		No	ClinGen TOPMed gnomAD
CA6391769 rs375005500	476	P>H		No	ClinGen ESP ExAC gnomAD
rs546655855 CA6391768	478	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6391767 rs777430277	479	V>A		No	ClinGen ExAC gnomAD
rs1170788329 CA383391595	481	S>G		No	ClinGen gnomAD
CA231646146 rs141889160	483	P>L		No	ClinGen ESP TOPMed gnomAD
CA383391557 rs1456195403	486	E>G		No	ClinGen gnomAD
CA383391561 rs1297238308	486	E>K		No	ClinGen TOPMed
CA231646129 rs556126385	487	W>*		No	ClinGen gnomAD
rs1565461828 CA383391523	489	S>F		No	ClinGen Ensembl
CA6391764 rs138809142	490	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1466818757 CA383391511	490	P>S		No	ClinGen TOPMed
CA6391762 rs751546437	491	A>V		No	ClinGen ExAC gnomAD
CA231646115 rs867759051	496	E>K		No	ClinGen gnomAD
CA383391378 rs1385286074	497	E>D		No	ClinGen gnomAD
CA383391383 rs1237999587	497	E>G		No	ClinGen gnomAD
rs1343911355 CA383391350	499	S>F		No	ClinGen gnomAD
CA6391758 rs764910896	502	W>G		No	ClinGen ExAC gnomAD
CA6391759 rs764910896	502	W>R		No	ClinGen ExAC gnomAD
CA383391274 rs1402388456	504	D>H		No	ClinGen gnomAD
CA383391276 rs1402388456	504	D>N		No	ClinGen gnomAD
rs149215740 CA6391757	505	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6391755 rs530829501	506	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs912668409 CA231646083	507	Q>K		No	ClinGen TOPMed
rs1183895222 CA383391225	507	Q>P		No	ClinGen gnomAD
CA383391203 rs1236101560	508	S>C		No	ClinGen gnomAD
rs1236101560 CA383391201	508	S>F		No	ClinGen gnomAD
rs759395296 CA231646027 COSM1739924	510	T>N	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs775996793 CA6391753	512	R>G		No	ClinGen ExAC gnomAD
rs181525652 CA231646017	514	K>R		No	ClinGen 1000Genomes
rs951401448 CA231646010	516	S>F		No	ClinGen TOPMed
CA231646006 rs777063139	517	Y>C		No	ClinGen gnomAD
rs367557692 CA6391750	518	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA383391024 rs1272232364	520	L>V		No	ClinGen TOPMed
rs780641311 CA6391747	525	R>L		No	ClinGen ExAC TOPMed gnomAD
CA231645987 rs780641311	525	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6391748 rs151053319	525	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1481650098 CA383390917	527	V>L		No	ClinGen TOPMed
rs969310120 CA231645977	528	S>L		No	ClinGen TOPMed gnomAD
CA383390900 rs1417787013	528	S>P		No	ClinGen gnomAD
rs1411125594 CA383390872	530	M>I		No	ClinGen gnomAD
rs1404404320 CA383390875	530	M>T		No	ClinGen gnomAD
rs780171058 CA6391743	531	L>F		No	ClinGen ExAC gnomAD
CA383390867 rs1388676179	531	L>P		No	ClinGen TOPMed
CA383390845 rs1475971498	533	I>N		No	ClinGen gnomAD
CA6391742 rs758449989	536	R>G		No	ClinGen ExAC gnomAD
rs1565461227 CA383390772	537	E>G		No	ClinGen Ensembl
CA383390767 rs1192207416	538	R>G		No	ClinGen gnomAD
CA6391739 rs757000931	540	E>K		No	ClinGen ExAC gnomAD
rs764171176 CA6391737	541	R>G		No	ClinGen ExAC gnomAD
COSM23409 rs760772362 CA6391736	541	R>K	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs148974985 CA6391735	543	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA383390670 rs1277323216	543	R>W		No	ClinGen TOPMed gnomAD
CA6391732 rs774714024	545	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs145831539 COSM3688161 CA6391733	545	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA383390642 rs2215292	546	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369638730 CA231645920	548	Q>E		No	ClinGen ESP gnomAD
CA383390598 rs1603499050	548	Q>H		No	ClinGen Ensembl
rs1364187816 CA383390576	549	H>L		No	ClinGen TOPMed
CA6391728 rs545895205	552	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA383390524 rs1228943957	553	P>S		No	ClinGen TOPMed
CA6391727 rs746630510	554	C>F		No	ClinGen ExAC TOPMed gnomAD
CA383390503 rs779761386	554	C>W		No	ClinGen ExAC gnomAD
CA231645907 rs746630510	554	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA231645903 rs903578380	555	V>G		No	ClinGen TOPMed
rs1487569743 CA383390484	556	D>G		No	ClinGen gnomAD
CA6391723 rs778653164	557	E>D		No	ClinGen ExAC gnomAD
rs112974593 CA6391724	557	E>K		No	ClinGen ExAC gnomAD
CA6391722 rs757092453	558	P>L		No	ClinGen ExAC TOPMed gnomAD
CA383390470 rs757092453	558	P>R		No	ClinGen ExAC TOPMed gnomAD
CA383390472 rs1317464970	558	P>S		No	ClinGen gnomAD
rs200635586 CA6391719	559	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200635586 CA6391720	559	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6391716 rs759543718	561	L>P		No	ClinGen ExAC gnomAD
CA6391714 rs766746704	562	F>C		No	ClinGen ExAC gnomAD
rs752120067 CA6391715	562	F>L		No	ClinGen ExAC gnomAD
rs766746704 CA383390338	562	F>S		No	ClinGen ExAC gnomAD
CA383390313 rs1442499197	563	S>L		No	ClinGen gnomAD
CA6391713 rs201149076	565	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1399012190 CA383390290	565	G>R		No	ClinGen gnomAD
CA383390268 rs1327534507	566	P>R		No	ClinGen gnomAD
CA383390276 rs1421708052	566	P>S		No	ClinGen TOPMed
CA6391710 rs760464820	569	S>Y		No	ClinGen ExAC
rs374013446 CA6391709	570	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs912730887 CA231645828	570	R>H		No	ClinGen TOPMed gnomAD
rs1431933082 CA383390175	572	A>V		No	ClinGen gnomAD
COSM269195 rs375821639 CA231645801	573	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs778937651 CA6391706	574	E>G		No	ClinGen ExAC TOPMed gnomAD
CA383390123 rs1236534922	575	L>R		No	ClinGen gnomAD
rs770809844 CA6391705	576	P>L		No	ClinGen ExAC TOPMed gnomAD
rs770809844 CA383390116	576	P>R		No	ClinGen ExAC TOPMed gnomAD
CA383390053 rs919982920	583	D>A		No	ClinGen TOPMed
CA231645770 rs919982920	583	D>G		No	ClinGen TOPMed
CA6391701 rs144159370	584	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6391700 rs144159370	584	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6391699 rs555600796	586	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA383389994 rs1240191166	587	Q>H		No	ClinGen gnomAD
CA383389974 rs1375493702	589	S>N		No	ClinGen gnomAD
CA383389962 rs1306682766	590	Y>H		No	ClinGen gnomAD
rs751554328 CA6391698	591	S>P		No	ClinGen ExAC TOPMed gnomAD
CA6391697 rs766451213	592	Q>R		No	ClinGen ExAC gnomAD
rs763421291 CA6391696	593	E>G		No	ClinGen ExAC
CA231645757 rs535471991	594	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs535471991 CA6391695	594	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA231645754 rs983561029	595	G>R		No	ClinGen Ensembl
CA383389861 rs1464991002	596	G>R		No	ClinGen gnomAD
rs1347427535 CA383389847	597	P>S		No	ClinGen gnomAD
rs765766328 CA6391694	599	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1235234863 CA383389810	599	K>T		No	ClinGen TOPMed
rs369897716 CA6391693	600	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759192397 CA6391690	601	P>H		No	ClinGen ExAC gnomAD
rs767233350 CA6391692	601	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6391691 rs767233350	601	P>T		No	ClinGen ExAC TOPMed gnomAD
rs770458870 CA383389769	602	I>F		No	ClinGen ExAC TOPMed gnomAD
CA6391688 rs770458870	602	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6391687 rs749248133	603	K>T		No	ClinGen ExAC gnomAD
CA383389736 rs1482253727	604	E>Q		No	ClinGen gnomAD
CA6391686 rs199632659 COSM938596	605	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1156319557 CA383389686	606	L>P		No	ClinGen TOPMed
rs1352428719 CA383389693	606	L>V		No	ClinGen TOPMed gnomAD
rs747889767 CA6391684	607	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1457685108 CA383389643	608	I>M		No	ClinGen TOPMed
CA231645724 rs999276165	609	S>F		No	ClinGen TOPMed
CA383389586 rs1312502969	612	P>L		No	ClinGen TOPMed gnomAD
CA383389588 rs1312502969	612	P>R		No	ClinGen TOPMed gnomAD
CA383389539 rs1415400485	616	V>I		No	ClinGen Ensembl
rs1017404133 CA231645703	617	L>I		No	ClinGen gnomAD
rs1419618839 CA383389522	617	L>P		No	ClinGen gnomAD
CA383389513 rs1358763345	618	P>S		No	ClinGen gnomAD
rs1425537952 CA383389481	620	T>I		No	ClinGen TOPMed gnomAD
CA383389487 rs1603498962	620	T>P		No	ClinGen Ensembl
rs750901706 CA6391678	621	P>H		No	ClinGen ExAC gnomAD
rs750901706 CA383389470 COSM3811820	621	P>L	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs758503889 CA6391679	621	P>T		No	ClinGen ExAC gnomAD
CA383389448 rs1229513350	623	S>A		No	ClinGen TOPMed
rs1421879335 CA383389434	624	W>*		No	ClinGen gnomAD
rs765784897 CA6391677	625	R>K		No	ClinGen ExAC TOPMed gnomAD
rs765784897 CA383389416	625	R>M		No	ClinGen ExAC TOPMed gnomAD
CA6391676 rs757721801	625	R>S		No	ClinGen ExAC gnomAD
CA383389411 rs1487889563	626	L>I		No	ClinGen gnomAD
rs201504517 CA6391675	627	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA383389354 rs1302850909	631	K>Q		No	ClinGen Ensembl
CA383389308 rs1264546189	634	G>A		No	ClinGen gnomAD
rs1486465497 CA383389252	638	S>C		No	ClinGen TOPMed
rs139471742 CA6391669	639	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA383389233 rs1279217207	639	P>L		No	ClinGen TOPMed gnomAD
CA383389234 rs1279217207	639	P>R		No	ClinGen TOPMed gnomAD
rs139471742 CA6391670	639	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1422995567 CA383389225	640	V>L		No	ClinGen TOPMed
rs1339002928 CA383389219	641	Q>E		No	ClinGen gnomAD
rs3742076 CA383389206	643	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6391665 rs768487105	643	S>F		No	ClinGen ExAC TOPMed gnomAD
VAR_020024 rs3742076 CA6391666	643	S>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs3742076 CA6391667	643	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762144757 CA6391664	644	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs926667225 CA231645592	647	S>C		No	ClinGen Ensembl
CA6391663 rs780259609	649	P>L		No	ClinGen ExAC gnomAD
rs758423768 CA6391662	650	L>W		No	ClinGen ExAC gnomAD
rs941533989 CA231645564	651	P>L		No	ClinGen TOPMed
rs745897759 CA6391661	652	D>G		No	ClinGen ExAC TOPMed gnomAD
rs757884959 CA6391659	653	P>H		No	ClinGen ExAC TOPMed gnomAD
CA383389147 rs779597736	653	P>S		No	ClinGen ExAC TOPMed gnomAD
rs779597736 CA6391660	653	P>T		No	ClinGen ExAC TOPMed gnomAD
CA383389130 rs1266045156	656	L>P		No	ClinGen gnomAD
CA383389131 rs1266045156	656	L>Q		No	ClinGen gnomAD
CA383389124 rs1481376270	657	M>I		No	ClinGen TOPMed gnomAD
rs1481376270 CA383389122	657	M>I		No	ClinGen TOPMed gnomAD
CA231645504 rs754379620	657	M>K		No	ClinGen ExAC TOPMed gnomAD
CA6391657 rs754379620	657	M>R		No	ClinGen ExAC TOPMed gnomAD
rs764617916 CA383389107	658	D>A		No	ClinGen ExAC gnomAD
rs764617916 CA6391656	658	D>G		No	ClinGen ExAC gnomAD
rs1202581103 CA383389117	658	D>H		No	ClinGen TOPMed
CA6391655 rs374220211	659	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1234564165 CA383389012	664	L>W		No	ClinGen gnomAD
rs779453012 CA6391652	666	S>G		No	ClinGen ExAC TOPMed gnomAD
CA6391651 rs568377566	666	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs764705130 CA6391649	668	P>H		No	ClinGen ExAC TOPMed gnomAD
rs764705130 CA383388947	668	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6391650 rs189481330 RCV000879315	668	P>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1396625511 CA383388939	669	P>A		No	ClinGen TOPMed
CA6391646 rs28919869	669	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6391647 rs28919869	669	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs28919869 VAR_025241 CA6391645 RCV000882764	669	P>R		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA383388924 rs1478305288	670	L>F		No	ClinGen TOPMed gnomAD
CA383388918 rs563190488	670	L>H		No	ClinGen 1000Genomes ExAC gnomAD
rs563190488 COSM1638033 CA6391641	670	L>P	bone [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1478305288 CA383388926	670	L>V		No	ClinGen TOPMed gnomAD
rs903678903 CA231645457	671	E>A		No	ClinGen TOPMed
rs376414243 CA231645456	672	S>P		No	ClinGen ESP
RCV000953295 CA6391639 VAR_025242 rs28919870	673	P>L		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA383388831 rs1373633989	674	Q>H		No	ClinGen TOPMed
CA231645453 rs995881166	675	R>S		No	ClinGen TOPMed gnomAD
CA383388819 rs1226668923	675	R>T		No	ClinGen TOPMed
CA231645448 rs751169233	678	S>T		No	ClinGen Ensembl
CA6391636 rs138730141	679	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753064494 CA383388694	681	P>L		No	ClinGen ExAC gnomAD
CA6391635 rs753064494	681	P>R		No	ClinGen ExAC gnomAD
rs781380281 CA6391634	683	D>N		No	ClinGen ExAC gnomAD
CA6391633 rs758119183	685	I>F		No	ClinGen ExAC gnomAD
rs1344844305 CA383388620	685	I>S		No	ClinGen gnomAD
CA6391629 rs753788611	687	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1254874016 CA383388540	689	F>S		No	ClinGen TOPMed
CA6391627 rs760422215	691	N>K		No	ClinGen ExAC gnomAD
rs1401357208 CA383388467	692	S>F		No	ClinGen TOPMed gnomAD
CA6391626 rs775398816	692	S>P		No	ClinGen ExAC gnomAD
rs771746117 CA6391625	694	P>L		No	ClinGen ExAC gnomAD
rs759900571 CA6391624	697	I>M		No	ClinGen ExAC gnomAD
CA6391622 rs369158837	699	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6391620 rs778172822	700	P>H		No	ClinGen ExAC gnomAD
CA6391619 rs770372738	701	K>R		No	ClinGen ExAC TOPMed gnomAD
CA231645353 rs548147648	703	G>D		No	ClinGen Ensembl
CA6391617 rs781663757	704	S>A		No	ClinGen ExAC gnomAD
rs1411714091 CA383388250	704	S>F		No	ClinGen TOPMed
CA383388261 rs781663757	704	S>P		No	ClinGen ExAC gnomAD
CA6391616 rs200806960	705	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778481065 CA6391614	706	E>K		No	ClinGen ExAC gnomAD
CA383388228 rs778481065	706	E>Q		No	ClinGen ExAC gnomAD
rs941405297 CA231645337	708	Q>H		No	ClinGen Ensembl
CA383388096 rs1448418903	712	L>F		No	ClinGen TOPMed gnomAD
rs753352536 CA6391612	712	L>P		No	ClinGen ExAC gnomAD
rs1332158429 CA383388072	713	A>T		No	ClinGen gnomAD
rs1421437384 CA383388066	713	A>V		No	ClinGen gnomAD
CA6391611 rs763484794	715	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6391610 rs138164446	716	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6391609 rs146806643	716	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1472699611 CA383387966	718	L>R		No	ClinGen gnomAD
CA6391605 rs145011914	720	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA383387928 rs1228406144	720	E>Q		No	ClinGen TOPMed
CA6391603 rs773390706	723	V>A		No	ClinGen ExAC gnomAD
CA6391604 rs763235392	723	V>I		No	ClinGen ExAC TOPMed gnomAD
rs140519202 CA231645254	728	N>H		No	ClinGen ESP
rs759483249 CA6391600	729	D>E		No	ClinGen ExAC TOPMed gnomAD
CA383387702 rs1448587877	729	D>G		No	ClinGen TOPMed
rs964344748 CA231645243	732	S>R		No	ClinGen gnomAD
CA383387570 rs1235961914	734	I>N		No	ClinGen TOPMed
rs778570959 CA6391597	737	D>G		No	ClinGen ExAC gnomAD
CA383387442 rs756946538	738	I>M		No	ClinGen ExAC TOPMed gnomAD
CA383387417 rs1351087498	739	S>N		No	ClinGen gnomAD
rs1165128826 CA383387402	739	S>R		No	ClinGen gnomAD
CA6391595 rs748874141	740	F>S		No	ClinGen ExAC gnomAD
rs755508868 CA6391593	742	G>S		No	ClinGen ExAC TOPMed gnomAD
rs538863688 CA383387318	743	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA383387296 rs1565458738	744	D>H		No	ClinGen Ensembl
rs754849672 CA6391590	745	E>K		No	ClinGen ExAC gnomAD
rs1489528280 CA383387184	747	P>S		No	ClinGen gnomAD
rs753701595 CA6391589	750	P>L		No	ClinGen ExAC gnomAD
rs1159130429 CA383387076 COSM415897	751	D>N	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
CA6391586 rs773302517	753	I>F		No	ClinGen ExAC TOPMed gnomAD
CA6391585 rs773302517	753	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6391584 rs766229966	754	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6391583 rs147929093	756	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1216720660 CA383386900	756	S>P		No	ClinGen gnomAD
CA383386851 rs1405846251	757	Q>P		No	ClinGen gnomAD
rs777218935 CA6391582	758	F>L		No	ClinGen ExAC TOPMed gnomAD
CA383386789 rs1435308555	759	I>T		No	ClinGen gnomAD
rs769114303 CA6391581	760	P>L		No	ClinGen ExAC gnomAD
CA383386753 rs1176884834	761	E>D		No	ClinGen TOPMed gnomAD
rs1466511452 CA383386683	763	Q>H		No	ClinGen TOPMed gnomAD
CA231645116 rs1020806472	764	Q>Q		No	ClinGen Ensembl

No associated diseases with Q08050

4 regional properties for Q08050

Type	Name	Position	InterPro Accession
domain	Fork head domain	234 - 329	IPR001766
conserved_site	Fork head domain conserved site1	236 - 249	IPR018122
conserved_site	Fork head domain conserved site 2	281 - 287	IPR030456
domain	Forkhead box protein M1, forkhead domain	236 - 312	IPR047516

Functions

		Description
EC Number
Subcellular Localization	Nucleus
PANTHER Family	PTHR46878	FORKHEAD BOX PROTEIN M1
PANTHER Subfamily	PTHR46878:SF1	FORKHEAD BOX PROTEIN M1
PANTHER Protein Class	helix-turn-helix transcription factor winged helix/forkhead transcription factor
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
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.

5 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA-binding transcription factor activity	A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
RNA polymerase II transcription regulatory region sequence-specific DNA binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.

17 GO annotations of biological process

Name	Definition
DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	A cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, resulting in the induction of the transcription of p21 (also known as WAF1, CIP1 and SDI1) or any equivalent protein, in response to the detection of DNA damage.
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
G2/M transition of mitotic cell cycle	The mitotic cell cycle transition by which a cell in G2 commits to M phase. The process begins when the kinase activity of M cyclin/CDK complex reaches a threshold high enough for the cell cycle to proceed. This is accomplished by activating a positive feedback loop that results in the accumulation of unphosphorylated and active M cyclin/CDK complex.
negative regulation of cell aging	OBSOLETE. Any process that decreases the rate, frequency, or extent of cell aging. Cell aging is the progression of the cell from its inception to the end of its lifespan.
negative regulation of stress-activated MAPK cascade	Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the stress-activated MAPK cascade.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
negative regulation of transcription, DNA-templated	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of double-strand break repair	Any process that activates or increases the frequency, rate or extent of double-strand break repair.
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.
positive regulation of transcription, DNA-templated	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of cell growth	Any process that modulates the frequency, rate, extent or direction of cell growth.
regulation of cell population proliferation	Any process that modulates the frequency, rate or extent of cell proliferation.
regulation of Ras protein signal transduction	Any process that modulates the frequency, rate or extent of Ras protein signal transduction.
regulation of reactive oxygen species metabolic process	Any process that modulates the frequency, rate or extent of reactive oxygen species metabolic process.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

10 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P32031	slp2	Fork head domain transcription factor slp2	Drosophila melanogaster (Fruit fly)	PR
O15353	FOXN1	Forkhead box protein N1	Homo sapiens (Human)	PR
Q96NZ1	FOXN4	Forkhead box protein N4	Homo sapiens (Human)	PR
Q12948	FOXC1	Forkhead box protein C1	Homo sapiens (Human)	PR
Q8K3Q3	Foxn4	Forkhead box protein N4	Mus musculus (Mouse)	PR
Q61572	Foxc1	Forkhead box protein C1	Mus musculus (Mouse)	PR
O08696	Foxm1	Forkhead box protein M1	Mus musculus (Mouse)	PR
P97691	Foxm1	Forkhead box protein M1	Rattus norvegicus (Rat)	PR
Q28H65	foxn5	Forkhead box protein N5	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
A2BGM5	foxn4	Forkhead box protein N4	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MKTSPRRPLI	LKRRRLPLPV	QNAPSETSEE	EPKRSPAQQE	SNQAEASKEV	AESNSCKFPA
70	80	90	100	110	120
GIKIINHPTM	PNTQVVAIPN	NANIHSIITA	LTAKGKESGS	SGPNKFILIS	CGGAPTQPPG
130	140	150	160	170	180
LRPQTQTSYD	AKRTEVTLET	LGPKPAARDV	NLPRPPGALC	EQKRETCADG	EAAGCTINNS
190	200	210	220	230	240
LSNIQWLRKM	SSDGLGSRSI	KQEMEEKENC	HLEQRQVKVE	EPSRPSASWQ	NSVSERPPYS
250	260	270	280	290	300
YMAMIQFAIN	STERKRMTLK	DIYTWIEDHF	PYFKHIAKPG	WKNSIRHNLS	LHDMFVRETS
310	320	330	340	350	360
ANGKVSFWTI	HPSANRYLTL	DQVFKPLDPG	SPQLPEHLES	QQKRPNPELR	RNMTIKTELP
370	380	390	400	410	420
LGARRKMKPL	LPRVSSYLVP	IQFPVNQSLV	LQPSVKVPLP	LAASLMSSEL	ARHSKRVRIA
430	440	450	460	470	480
PKVLLAEEGI	APLSSAGPGK	EEKLLFGEGF	SPLLPVQTIK	EEEIQPGEEM	PHLARPIKVE
490	500	510	520	530	540
SPPLEEWPSP	APSFKEESSH	SWEDSSQSPT	PRPKKSYSGL	RSPTRCVSEM	LVIQHRERRE
550	560	570	580	590	600
RSRSRRKQHL	LPPCVDEPEL	LFSEGPSTSR	WAAELPFPAD	SSDPASQLSY	SQEVGGPFKT
610	620	630	640	650	660
PIKETLPISS	TPSKSVLPRT	PESWRLTPPA	KVGGLDFSPV	QTSQGASDPL	PDPLGLMDLS
670	680	690	700	710	720
TTPLQSAPPL	ESPQRLLSSE	PLDLISVPFG	NSSPSDIDVP	KPGSPEPQVS	GLAANRSLTE
730	740	750	760
GLVLDTMNDS	LSKILLDISF	PGLDEDPLGP	DNINWSQFIP	ELQ