AiPD: Autoinhibited Protein Database

O00311

Gene name	CDC7
Protein name	Cell division cycle 7-related protein kinase
Names	CDC7-related kinase, HsCdc7, huCdc7
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8317
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-66 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-66 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

195-205 (Activation loop from InterPro)

Target domain	58-569 (Protein kinase domain)
Relief mechanism
Assay

366-378 (Activation loop from InterPro)

Target domain	58-569 (Protein kinase domain)
Relief mechanism
Assay

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

10 structures for O00311

Entry ID	Method	Resolution	Chain	Position	Source
4F99	X-ray	233 A	A	37-574	PDB
4F9A	X-ray	217 A	A/C	37-574	PDB
4F9B	X-ray	250 A	A/C	37-574	PDB
4F9C	X-ray	208 A	A	37-574	PDB
5UWQ	X-ray	228 A	D	456-473	PDB
5UWR	X-ray	224 A	D	456-478	PDB
6YA6	X-ray	144 A			PDB
6YA7	X-ray	167 A			PDB
6YA8	X-ray	179 A			PDB
AF-O00311-F1	Predicted				AlphaFoldDB

436 variants for O00311

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000624167 rs1298398066 CA341063879	254	A>G	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1571308046 COSM1731224 CA341058835	3	A>T	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	4	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA946648 rs149546312	6	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA341058880 rs1571308064	7	I>V		No	ClinGen Ensembl
CA946649 rs202245375	8	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1176579643 CA341058915	9	M>T		No	ClinGen gnomAD
CA946650 rs766493928	10	D>N		No	ClinGen ExAC gnomAD
rs753957745 CA946651	12	P>S		No	ClinGen ExAC gnomAD
CA26655845 rs376866996	13	M>V		No	ClinGen ESP TOPMed gnomAD
CA26655849 rs904467745	15	F>S		No	ClinGen TOPMed
CA341059025 rs1557583212	17	P>S		No	ClinGen Ensembl
rs1374425413 CA341059041	18	Q>*		No	ClinGen gnomAD
rs755260231 CA946652	18	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs868651111 CA26655853	20	D>N		No	ClinGen Ensembl
CA946653 rs370334275	21	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	22	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs13447459 CA26655858 VAR_019255	23	Q>P		No	ClinGen UniProt TOPMed dbSNP
rs1325571557 CA341059126	24	A>D		No	ClinGen gnomAD
CA946657 rs747527444	26	G>A		No	ClinGen ExAC TOPMed gnomAD
CA341059154 rs747527444	26	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778494560 CA946656	26	G>R		No	ClinGen ExAC TOPMed gnomAD
CA341059155 rs747527444	26	G>V		No	ClinGen ExAC TOPMed gnomAD
CA341059165 rs1483626776	27	S>A		No	ClinGen TOPMed
CA341059203 rs1208593361	29	K>*		No	ClinGen TOPMed
rs745476289 CA946662	31	N>H		No	ClinGen ExAC gnomAD
rs962018474 CA341059234	31	N>S		No	ClinGen TOPMed
rs762194001	31	N>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs962018474 CA26655880	31	N>T		No	ClinGen TOPMed
CA341059243 rs1199491885	32	E>K		No	ClinGen gnomAD
rs1199491885 CA341059248	32	E>Q		No	ClinGen gnomAD
CA26655884 rs920445073	33	Q>R		No	ClinGen TOPMed gnomAD
CA946665 rs762801514	37	L>F		No	ClinGen ExAC TOPMed gnomAD
CA341059327 rs762801514	37	L>V		No	ClinGen ExAC TOPMed gnomAD
rs148416354 CA946667	38	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142801533 CA946666	38	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1363983626 CA341061017	39	G>D		No	ClinGen TOPMed gnomAD
rs1571317377 CA341061020	40	V>I		No	ClinGen Ensembl
rs1404381890 CA341061030	41	K>R		No	ClinGen gnomAD
CA946682 rs769338114	44	I>T		No	ClinGen ExAC gnomAD
rs369562926 CA26657006	46	K>Q		No	ClinGen Ensembl
CA341061067 rs1191883500	46	K>R		No	ClinGen gnomAD
CA341061073 rs1216327046	47	L>F		No	ClinGen TOPMed gnomAD
rs1293358991 CA341061075	47	L>P		No	ClinGen gnomAD
CA341061072 rs1216327046	47	L>V		No	ClinGen TOPMed gnomAD
CA341061087 rs1553147722	49	E>*		No	ClinGen Ensembl
rs748926788 CA946684	50	A>V		No	ClinGen ExAC gnomAD
CA341061112 rs1246466695	53	Q>*		No	ClinGen gnomAD
CA946685 rs768488522	57	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1571317506 CA341061148	58	F>Y		No	ClinGen Ensembl
rs150921591 CA946686	60	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA26657010 rs954303934	61	E>G		No	ClinGen Ensembl
CA946688 rs771995747	63	K>R		No	ClinGen ExAC gnomAD
TCGA novel	64	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201145139 CA946706	71	S>C		No	ClinGen ExAC TOPMed gnomAD
rs778701504 CA946705	71	S>T		No	ClinGen ExAC TOPMed gnomAD
rs371997416 CA946707	73	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA341061288 rs1221555171	77	A>P		No	ClinGen gnomAD
rs770039227 CA946710	78	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1057400859 CA26657061	80	Q>E		No	ClinGen Ensembl
CA26657064 rs1013588395	82	G>R		No	ClinGen gnomAD
CA26657068 rs1014754957	83	P>H		No	ClinGen TOPMed
CA946712 rs368821993	83	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1284608068 CA341061332	84	E>G		No	ClinGen TOPMed
rs1234785530 CA341061342	85	E>D		No	ClinGen TOPMed gnomAD
rs1571318089 CA341061339	85	E>V		No	ClinGen Ensembl
CA946714 rs774586939	88	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1571318115 CA341061366	89	L>P		No	ClinGen Ensembl
CA946715 rs762307339	89	L>V		No	ClinGen ExAC gnomAD
rs199693565 CA26657073	94	P>L		No	ClinGen 1000Genomes
CA341061406 rs1209019320	95	T>K		No	ClinGen Ensembl
CA341061412 rs1481460254	96	S>N		No	ClinGen gnomAD
rs750988691 CA946717	97	H>R		No	ClinGen ExAC gnomAD
CA946716 rs767761579	97	H>Y		No	ClinGen ExAC gnomAD
rs144536947 CA946719	99	I>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA946718 rs13447492	99	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs144536947 CA946720	99	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs13447492 VAR_019256 CA26657078	99	I>V		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA341061443 rs1439660951	101	I>S		No	ClinGen gnomAD
CA341061444 rs1439660951	101	I>T		No	ClinGen gnomAD
rs747749286 CA946723	102	A>G		No	ClinGen ExAC TOPMed gnomAD
rs778468703 CA946722	102	A>S		No	ClinGen ExAC TOPMed gnomAD
rs146823431 CA946724	106	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA341061478 rs1402831411	107	C>G		No	ClinGen TOPMed
CA946728 rs775728871	110	V>A		No	ClinGen ExAC TOPMed gnomAD
CA341061502 rs749316780	111	A>S		No	ClinGen ExAC TOPMed gnomAD
CA946729 rs749316780	111	A>T		No	ClinGen ExAC TOPMed gnomAD
CA946730 rs768854367	111	A>V		No	ClinGen ExAC TOPMed gnomAD
rs13447493 CA341061505	112	G>R		No	ClinGen TOPMed gnomAD
VAR_019257 rs13447493 CA26657092	112	G>W		No	ClinGen UniProt TOPMed dbSNP gnomAD
CA341062247 rs1209159310	113	G>R		No	ClinGen TOPMed
CA26657665 rs1046494803	116	N>D		No	ClinGen TOPMed gnomAD
CA341062307 rs1273865568	116	N>S		No	ClinGen TOPMed
rs1327198622 CA341062345	118	M>I		No	ClinGen TOPMed
rs1389303499 CA341062366	120	V>I		No	ClinGen gnomAD
CA946747 rs781348040	124	F>Y		No	ClinGen ExAC gnomAD
CA26657670 rs1053781837	125	R>G		No	ClinGen TOPMed gnomAD
CA946749 rs745789199	126	K>N		No	ClinGen ExAC TOPMed gnomAD
rs768907349 CA946750	127	N>S		No	ClinGen ExAC gnomAD
CA946751 rs570397909	128	D>A		No	ClinGen ExAC TOPMed gnomAD
CA341062525 rs1461962131	129	H>R		No	ClinGen Ensembl
rs1265099671 CA341062532	130	V>I		No	ClinGen gnomAD
CA341062569 rs1207008095	134	M>T		No	ClinGen gnomAD
rs1351437527 CA341062567	134	M>V		No	ClinGen gnomAD
CA946752 rs748433817	135	P>T		No	ClinGen ExAC gnomAD
rs1401709090 CA341062587	137	L>M		No	ClinGen gnomAD
CA26657678 rs941854527	138	E>K		No	ClinGen Ensembl
rs773638369 CA946754	140	E>G		No	ClinGen ExAC gnomAD
TCGA novel	140	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747885913 CA26657681	141	S>*		No	ClinGen Ensembl
rs549548896 CA946756	142	F>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1184884515 CA341062629	143	L>S		No	ClinGen gnomAD
rs1184884515 CA341062630	143	L>W		No	ClinGen gnomAD
CA946770 rs779072497	147	N>I		No	ClinGen ExAC gnomAD
CA341062676 rs375702482	148	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA946771 COSM173116 rs375702482	148	S>Y	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs772341414 CA946773	149	L>P		No	ClinGen ExAC gnomAD
rs1409044551 CA341062686	150	S>C		No	ClinGen gnomAD
CA946774 rs573122638	152	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573122638 CA341062696	152	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA26657712 rs770345842	155	R>Q		No	ClinGen TOPMed gnomAD
rs375886193 CA946775	155	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1302686335 CA341062722	156	E>*		No	ClinGen gnomAD
CA946778 rs776945490	156	E>D		No	ClinGen ExAC TOPMed gnomAD
CA341062720 rs1302686335	156	E>K		No	ClinGen gnomAD
TCGA novel	160	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770145582 CA946779	161	L>V		No	ClinGen ExAC gnomAD
CA946780 VAR_019258 rs13447503	162	F>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA26657718 rs369750539	163	K>R		No	ClinGen ESP TOPMed gnomAD
CA341062799 rs1224227390	167	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs763649740 CA946782 COSM913196	167	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs763649740 CA341062801	167	R>L		No	ClinGen ExAC gnomAD
rs1230761357 CA341062803	168	I>V		No	ClinGen gnomAD
CA26657721 rs60472082	170	Q>H		No	ClinGen Ensembl
rs751307469 CA946783	171	F>L		No	ClinGen ExAC gnomAD
rs373272987 CA946784	173	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs750195064 CA946786	180	P>T		No	ClinGen ExAC gnomAD
TCGA novel	181	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766161953 CA946788	183	F>V		No	ClinGen ExAC gnomAD
CA946789 rs753807413	183	F>Y		No	ClinGen ExAC gnomAD
rs1373926032 CA341062913	184	L>V		No	ClinGen gnomAD
rs1571324047 CA341062923	185	Y>C		No	ClinGen Ensembl
CA341062920 rs1463861884	185	Y>H		No	ClinGen gnomAD
CA946790 rs758464467	186	N>D		No	ClinGen ExAC gnomAD
rs1435045190 CA341062929	186	N>T		No	ClinGen TOPMed
CA946792 rs747270363	187	R>K		No	ClinGen ExAC TOPMed gnomAD
rs539320135 CA946793	188	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA946795 rs377519100	188	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA341062942 rs377519100	188	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs539320135 CA946794	188	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1384942188 CA341062944	189	L>V		No	ClinGen gnomAD
CA341063455 rs1192924679	191	K>N		No	ClinGen TOPMed
TCGA novel	191	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1246168978 CA341063465	193	A>T		No	ClinGen gnomAD
CA341063470 rs1291593463	193	A>V		No	ClinGen gnomAD
CA26657898 rs940947389	199	L>V		No	ClinGen Ensembl
CA946813 rs757479239	200	A>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	200	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA946814 rs781463904	201	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA341063532 rs1487164976	203	T>P		No	ClinGen gnomAD
rs373838426 CA946816	206	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA341063556 rs1445634808	206	T>M		No	ClinGen gnomAD
CA341063557 rs1411938221	207	K>Q		No	ClinGen TOPMed gnomAD
VAR_040403 CA946818 rs34979509	208	I>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1404808839 CA341063570	208	I>T		No	ClinGen gnomAD
TCGA novel	209	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	209	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs56327502 VAR_040404 CA946819	209	E>D		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA946820 rs146637092	212	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1458821943 CA341063605	214	V>I		No	ClinGen gnomAD
rs1387558933 CA341063614	215	Q>R		No	ClinGen gnomAD
rs368848484 CA26657914	216	S>Y		No	ClinGen Ensembl
CA946821 rs542351077	217	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA26657918 rs904925103	220	Q>R		No	ClinGen Ensembl
CA341063661 rs1217482180	222	R>G		No	ClinGen TOPMed gnomAD
rs1227222070 CA341063695	226	N>K		No	ClinGen gnomAD
rs35652063 CA946823	226	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA341063693 rs35652063	226	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs780309556 RCV000766142	227	K>*		No	ClinVar dbSNP
CA946824 rs760351639	227	K>E		No	ClinGen ExAC gnomAD
rs766124784 CA946826	228	S>F		No	ClinGen ExAC gnomAD
CA946827 rs143814781	230	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA341063747 rs1462015365	234	N>S		No	ClinGen gnomAD
rs1206015296 CA341063751	235	K>E		No	ClinGen gnomAD
rs1235926456 CA341063753	235	K>R		No	ClinGen gnomAD
rs1472628196 CA341063764	236	I>M		No	ClinGen gnomAD
rs1260731124 CA341063766	237	P>A		No	ClinGen TOPMed gnomAD
CA341063775 rs1373375065	238	L>R		No	ClinGen TOPMed
rs1172829311 CA341063782	239	S>R		No	ClinGen TOPMed
CA26657928 rs768798366	241	P>A		No	ClinGen TOPMed
rs759410361 CA946828	244	K>R		No	ClinGen ExAC gnomAD
CA946829 rs765098640	247	D>H		No	ClinGen ExAC gnomAD
rs752629702 CA946831	248	Q>E		No	ClinGen ExAC gnomAD
CA341063849 rs781348943	249	Q>H		No	ClinGen TOPMed gnomAD
CA341063851 rs1474433939	250	S>P		No	ClinGen TOPMed
rs199901223 CA946832	253	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA341063875 rs1446919244	254	A>T		No	ClinGen gnomAD
rs1298398066 CA341063878	254	A>V		No	ClinGen TOPMed gnomAD
CA946835 rs767565802	255	S>F		No	ClinGen ExAC TOPMed gnomAD
CA341063893 rs1288237017	256	V>D		No	ClinGen gnomAD
CA946836 rs750654523	258	R>K		No	ClinGen ExAC gnomAD
rs202238183 CA946837	259	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA946838 rs780306364	262	N>D		No	ClinGen ExAC gnomAD
CA341063983 rs780306364	262	N>H		No	ClinGen ExAC gnomAD
CA26657940 rs1009902962	263	A>V		No	ClinGen TOPMed
CA946840 rs769450758	264	Q>*		No	ClinGen ExAC gnomAD
rs1425122525 CA341064061	266	Q>H		No	ClinGen TOPMed gnomAD
CA946841 rs151309281	267	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1411115138 CA341064091	270	G>R		No	ClinGen gnomAD
CA341064116 rs1175974595	271	K>N		No	ClinGen TOPMed gnomAD
CA26657946 rs201202165	271	K>T		No	ClinGen 1000Genomes
TCGA novel	272	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370301018 CA946844	273	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA946846 rs746668868	274	K>N		No	ClinGen ExAC TOPMed gnomAD
CA341064165 rs1445392727	274	K>R		No	ClinGen Ensembl
CA341064275 rs1300330922	275	E>D		No	ClinGen gnomAD
CA26658078 rs865935428	276	G>R		No	ClinGen Ensembl
CA946868 rs575596960	277	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA26658081 rs763589588	278	V>A		No	ClinGen Ensembl
CA26658080 rs559506095	278	V>I		No	ClinGen TOPMed gnomAD
CA341064361 rs1292797298	281	S>C		No	ClinGen gnomAD
CA341064366 rs1358511092	282	V>I		No	ClinGen gnomAD
rs371099029 CA26658083	283	Q>*		No	ClinGen ESP TOPMed
TCGA novel	283	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	283	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769620136 CA946869	284	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA341064403 rs769620136	284	R>G		No	ClinGen ExAC TOPMed gnomAD
rs775228172 CA946870	284	R>H		No	ClinGen ExAC gnomAD
rs768583317 CA946872	288	G>E		No	ClinGen ExAC gnomAD
TCGA novel	288	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	288	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341064636 rs1249595981	298	I>T		No	ClinGen gnomAD
CA946873 rs773171042	299	S>T		No	ClinGen ExAC gnomAD
CA946874 rs368391670	300	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA341064689 rs370367545 COSM1503918	301	E>D	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA341064702 rs1352721387	302	S>N		No	ClinGen gnomAD
rs759798939 CA946877	305	V>L		No	ClinGen ExAC gnomAD
rs1457025798 CA341064910	308	M>T		No	ClinGen gnomAD
CA341064926 rs1446024177	309	K>E		No	ClinGen TOPMed
rs113692705 CA26658213	310	Q>R		No	ClinGen Ensembl
CA341064968 rs1303853823	311	S>A		No	ClinGen gnomAD
rs768332701 CA946891	312	K>E		No	ClinGen ExAC TOPMed gnomAD
CA341065003 rs1394448042	313	T>I		No	ClinGen gnomAD
rs1557595570 CA341065009	314	V>G		No	ClinGen Ensembl
rs1332177695 CA341065014	315	D>G		No	ClinGen TOPMed
CA341065021 rs1290100206	316	V>A		No	ClinGen gnomAD
rs774403248 CA946892	316	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1164369328 CA341065027	317	L>P		No	ClinGen TOPMed
rs943978565 CA26658217	320	K>Q		No	ClinGen Ensembl
rs748011530 CA946893	320	K>T		No	ClinGen ExAC gnomAD
rs1406246947 CA341065050	321	L>S		No	ClinGen TOPMed
CA341065060 rs1571328518	323	T>P		No	ClinGen Ensembl
rs528313824 CA946894	324	K>R		No	ClinGen ExAC gnomAD
rs554770938 CA946895	325	K>N		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	325	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1571328543 CA341065081	326	K>E		No	ClinGen Ensembl
TCGA novel	326	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA946897 rs765493427	328	I>V		No	ClinGen ExAC TOPMed gnomAD
CA341065101 rs1304332837	329	S>P		No	ClinGen Ensembl
CA26658222 rs749067121	330	T>A		No	ClinGen Ensembl
COSM913199 CA946898 rs775998744	330	T>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA341065109 rs775998744	330	T>R		No	ClinGen ExAC gnomAD
CA946900 rs764347144	331	K>E		No	ClinGen ExAC gnomAD
TCGA novel	331	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341065129 rs1179927273	333	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA946902 rs201201344	333	M>T		No	ClinGen ExAC TOPMed gnomAD
rs778964691 CA946901	333	M>V		No	ClinGen ExAC TOPMed gnomAD
CA946903 rs141732646	335	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341065144 rs1245701816	335	S>R		No	ClinGen TOPMed
CA341065151 rs1379677243	337	V>M		No	ClinGen gnomAD
CA946904 rs749879010	338	M>I		No	ClinGen ExAC gnomAD
rs1411713613 CA341065182	341	T>P		No	ClinGen gnomAD
rs1378939301 CA341065205	344	S>F		No	ClinGen gnomAD
rs779750765 CA341065221	347	A>S		No	ClinGen ExAC gnomAD
rs779750765 CA946907	347	A>T		No	ClinGen ExAC gnomAD
rs1453101216 CA341065239	350	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs576769110 CA26658232	350	T>I		No	ClinGen 1000Genomes
CA946911 rs748147532	354	Y>C		No	ClinGen ExAC gnomAD
CA341065279 rs1571328819	355	A>V		No	ClinGen Ensembl
TCGA novel	356	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341065285 rs1342507560	356	T>I		No	ClinGen gnomAD
rs931413910 CA26658236	357	D>V		No	ClinGen TOPMed
CA341065293 rs781431772	358	K>*		No	ClinGen ExAC gnomAD
rs781431772 CA946913	358	K>E		No	ClinGen ExAC gnomAD
rs745874823 CA946914	358	K>T		No	ClinGen ExAC gnomAD
TCGA novel	359	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341065316 rs1354275088	361	S>N		No	ClinGen TOPMed
CA26658242 rs966431314	362	I>V		No	ClinGen gnomAD
rs769986292 CA946915	364	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1403089257 CA341065364	366	R>S		No	ClinGen TOPMed
rs541052393 CA946931	367	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA946932 COSM913200 rs760091555	367	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA341065384 rs1423219906	369	Q>H		No	ClinGen TOPMed
rs367577234 CA946933	372	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	372	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780244352 CA946935	381	A>E		No	ClinGen ExAC gnomAD
CA341065461 rs1351544686	382	P>S		No	ClinGen gnomAD
rs1287854856 CA341065494	387	K>E		No	ClinGen TOPMed gnomAD
rs1456267873 CA341065509	389	P>T		No	ClinGen gnomAD
rs749551273 CA946936	390	N>S		No	ClinGen ExAC gnomAD
rs1437052024 CA341065533	392	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1437052024 CA341065535	392	T>N		No	ClinGen gnomAD
rs200803473 CA946937	393	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	394	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779064008 CA946957	395	I>V		No	ClinGen ExAC gnomAD
CA946958 rs748380730	397	M>V		No	ClinGen ExAC TOPMed gnomAD
CA946959 rs376716700	399	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA946960 rs773524110	400	A>S		No	ClinGen ExAC TOPMed gnomAD
CA341065657 rs773524110	400	A>T		No	ClinGen ExAC TOPMed gnomAD
rs747536787 CA946961	400	A>V		No	ClinGen ExAC gnomAD
rs771369297 CA946963	406	S>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	410	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1406898199 CA341065833	411	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA26659118 rs973834750	411	R>Q		No	ClinGen TOPMed gnomAD
rs767477465 CA946965	412	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs775051163 CA946967	415	Y>C		No	ClinGen ExAC gnomAD
rs1328994289 CA341065916	416	K>E		No	ClinGen TOPMed
CA946968 rs368754822	416	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA946969 rs201266789	417	A>E		No	ClinGen ExAC TOPMed gnomAD
CA341065937 rs1387115199	417	A>S		No	ClinGen TOPMed
TCGA novel	421	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1351804093 CA341066038	423	A>P		No	ClinGen gnomAD
CA341066067 rs1279513212	425	A>T		No	ClinGen gnomAD
rs1329350084 CA341066085	426	Q>E		No	ClinGen gnomAD
CA946971 rs757269619	427	I>N		No	ClinGen ExAC TOPMed gnomAD
rs750361266 CA946973	428	M>T		No	ClinGen ExAC gnomAD
rs527296877 CA946972	428	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341066147 rs1205956750	429	T>R		No	ClinGen gnomAD
CA946974 rs372389855	430	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1482120634 CA341066193	432	G>A		No	ClinGen gnomAD
rs1482120634 CA341066192	432	G>E		No	ClinGen gnomAD
rs988123568 CA26659128	433	S>Y		No	ClinGen TOPMed
CA946975 rs779021530	435	E>K		No	ClinGen ExAC gnomAD
CA341066252 rs1232262774	436	T>A		No	ClinGen gnomAD
rs141555013 CA26659131	436	T>I		No	ClinGen ESP TOPMed gnomAD
rs141555013 CA26659132	436	T>S		No	ClinGen ESP TOPMed gnomAD
CA341066275 rs1433787635	437	I>M		No	ClinGen gnomAD
CA341066270 rs1422604348	437	I>T		No	ClinGen TOPMed gnomAD
CA26659134 rs200579936	440	A>P		No	ClinGen 1000Genomes
CA946976 rs748399435	441	K>E		No	ClinGen ExAC gnomAD
rs13447539 VAR_019259 CA946977	441	K>R		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA26660085 rs868320922	447	I>V		No	ClinGen Ensembl
CA946992 rs761759005	449	C>F		No	ClinGen ExAC TOPMed gnomAD
CA341066897 rs1271231210	449	C>R		No	ClinGen gnomAD
rs761759005 CA946993	449	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA26660094 rs911477809	452	E>K		No	ClinGen Ensembl
CA341066929 rs1249494270	453	V>A		No	ClinGen gnomAD
CA26660097 rs959377004	454	P>L		No	ClinGen TOPMed gnomAD
rs750369792 CA946994	455	A>T		No	ClinGen ExAC gnomAD
CA946995 rs756037595	455	A>V		No	ClinGen ExAC gnomAD
CA946996 rs139079015	456	Q>H		No	ClinGen ESP ExAC gnomAD
CA341066963 rs1239997045	459	R>*		No	ClinGen TOPMed
rs1417828698 CA341066989	462	C>*		No	ClinGen TOPMed gnomAD
CA341066984 rs1163357733	462	C>R		No	ClinGen TOPMed gnomAD
CA26660110 rs778396481	463	E>G		No	ClinGen Ensembl
CA341067013 rs1490917679	466	R>K		No	ClinGen TOPMed
CA341067016 CA341067017 rs1161900052	466	R>S		No	ClinGen gnomAD
rs183452304 CA341067022	467	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA947001 rs183452304	467	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs751764174 CA947002	468	M>I		No	ClinGen ExAC gnomAD
TCGA novel	470	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1299822057 CA341067045	471	S>C		No	ClinGen gnomAD
CA26660121 rs56381770 VAR_040405	472	T>I		No	ClinGen UniProt Ensembl dbSNP
CA341067069 rs1399910289	474	K>N		No	ClinGen gnomAD
CA26660126 rs964267282	474	K>R		No	ClinGen Ensembl
rs746386584 CA947005	478	D>N		No	ClinGen ExAC TOPMed gnomAD
rs770280949 CA947006	479	I>T		No	ClinGen ExAC gnomAD
rs1228772332 CA341067105	480	Q>K		No	ClinGen gnomAD
rs1269708902 CA341067108	480	Q>P		No	ClinGen TOPMed gnomAD
rs748878547 CA947008	481	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1366209756 CA341067122	482	H>R		No	ClinGen TOPMed
rs1357024258 CA341067120	482	H>Y		No	ClinGen gnomAD
rs1406380971 CA341067126	483	A>T		No	ClinGen TOPMed
rs768268142 CA947009	483	A>V		No	ClinGen ExAC gnomAD
TCGA novel	484	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs575030666 CA947010	484	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA341067135 rs575030666	484	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs761527953 CA947011	485	H>Y		No	ClinGen ExAC gnomAD
CA341067152 rs773009951	487	P>A		No	ClinGen ExAC gnomAD
rs1362363889 CA341067155	487	P>L		No	ClinGen gnomAD
CA947013 rs773009951	487	P>S		No	ClinGen ExAC gnomAD
rs1297331025 CA341067159	488	A>S		No	ClinGen TOPMed
CA947014 rs200149584	493	T>I		No	ClinGen 1000Genomes ExAC TOPMed
CA341067221 rs200149584	493	T>N		No	ClinGen 1000Genomes ExAC TOPMed
CA947015 rs1173784010	494	D>G		No	ClinGen TOPMed
rs1453534372 CA341067245	495	H>R		No	ClinGen gnomAD
VAR_040406 rs35055915 CA947017	498	S>A		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA341067291 rs1404679242	499	C>F		No	ClinGen gnomAD
rs1432927561 CA341067298	500	L>V		No	ClinGen gnomAD
CA947018 rs753770103	501	V>I		No	ClinGen ExAC TOPMed gnomAD
CA341067321 rs1410293156	502	Q>K		No	ClinGen gnomAD
CA341067348 rs764133284	504	P>L		No	ClinGen ExAC TOPMed gnomAD
rs764133284 CA947020	504	P>R		No	ClinGen ExAC TOPMed gnomAD
CA947019 rs763073932	504	P>S		No	ClinGen ExAC gnomAD
CA341067370 rs1256204740	507	Q>K		No	ClinGen gnomAD
rs1208097204 CA341067423	511	N>Y		No	ClinGen gnomAD
rs757454355 CA947022	516	G>R		No	ClinGen ExAC TOPMed gnomAD
CA341067502 rs1483105223	517	D>G		No	ClinGen gnomAD
rs781427222 CA947023	519	N>D		No	ClinGen ExAC TOPMed gnomAD
CA341067553 rs1488800421	521	C>R		No	ClinGen TOPMed
rs750735926 CA947024	522	E>K		No	ClinGen ExAC gnomAD
CA947025 rs77990651	523	H>D		No	ClinGen ExAC TOPMed gnomAD
CA341067595 rs1200092980	524	C>Y		No	ClinGen gnomAD
CA947027 rs749792169	527	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	528	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1173260152 CA341067632	528	Y>H		No	ClinGen gnomAD
rs79748782 CA947028	529	N>S		No	ClinGen ExAC TOPMed gnomAD
CA26660183 rs867006253	530	T>N		No	ClinGen TOPMed
CA947029 rs778529266	531	N>S		No	ClinGen ExAC TOPMed gnomAD
CA341067691 rs1386790440	536	N>I		No	ClinGen TOPMed
TCGA novel	537	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs943433778 CA26660188	538	V>I		No	ClinGen TOPMed
rs1390594382 CA341067709	539	P>A		No	ClinGen gnomAD
rs772887412 CA947032	540	D>H		No	ClinGen ExAC gnomAD
CA947033 rs377000211	547	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA26660199 rs894413602	549	L>I		No	ClinGen gnomAD
CA947034 rs369644570	551	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA341067787 rs1200279690	551	D>N		No	ClinGen TOPMed gnomAD
rs1481433948 CA341067795	552	L>V		No	ClinGen TOPMed
CA947035 rs776595366	554	P>S		No	ClinGen ExAC gnomAD
TCGA novel	559	T>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759435491 CA947036	561	E>A		No	ClinGen ExAC TOPMed gnomAD
rs561497242 CA26660207	561	E>D		No	ClinGen Ensembl
CA947037 rs764188150	562	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1467430760 CA341067865	563	A>T		No	ClinGen gnomAD
rs761948735 CA947039	564	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1047684803 CA341067884	566	H>P		No	ClinGen TOPMed
rs1047684803 CA26660219	566	H>R		No	ClinGen TOPMed
CA947041 rs750602155	566	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA947044 rs531153642	569	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA524696032 rs1371263828	571	D>*		No	ClinGen gnomAD
CA341067923 rs1375892114	571	D>E		No	ClinGen TOPMed gnomAD
rs201568006 CA947045	571	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs142401032 CA947048	572	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs142401032 CA947046	572	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs142401032 CA947047	572	M>T		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with O00311

3 regional properties for O00311

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	58 - 569	IPR000719
active_site	Serine/threonine-protein kinase, active site	173 - 185	IPR008271
binding_site	Protein kinase, ATP binding site	64 - 90	IPR017441

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
intercellular bridge	A direct connection between the cytoplasm of two cells that is formed following the completion of cleavage furrow ingression during cell division. They are usually present only briefly prior to completion of cytokinesis. However, in some cases, such as the bridges between germ cells during their development, they become stabilised.
mitotic spindle	A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules.
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
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
kinase activity	Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
metal ion binding	Binding to a metal ion.
protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.

9 GO annotations of biological process

Name	Definition
cell cycle phase transition	The cell cycle process by which a cell commits to entering the next cell cycle phase.
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
double-strand break repair via break-induced replication	The error-free repair of a double-strand break in DNA in which the centromere-proximal end of a broken chromosome searches for a homologous region in an intact chromosome. DNA synthesis initiates from the 3' end of the invading DNA strand, using the intact chromosome as the template, and progresses to the end of the chromosome.
G1/S transition of mitotic cell cycle	The mitotic cell cycle transition by which a cell in G1 commits to S phase. The process begins with the build up of G1 cyclin-dependent kinase (G1 CDK), resulting in the activation of transcription of G1 cyclins. The process ends with the positive feedback of the G1 cyclins on the G1 CDK which commits the cell to S phase, in which DNA replication is initiated.
peptidyl-serine phosphorylation	The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of G2/M transition of mitotic cell cycle	Any signalling pathway that activates or increases the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G2 phase to M phase of the mitotic cell cycle.
positive regulation of nuclear cell cycle DNA replication	Any process that activates or increases the frequency, rate or extent of the DNA-dependent DNA replication that occurs in the nucleus of eukaryotic organisms as part of the cell cycle.
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
P48730	CSNK1D	Casein kinase I isoform delta	Homo sapiens (Human)	SS
P49674	CSNK1E	Casein kinase I isoform epsilon	Homo sapiens (Human)	EV
Q86Y07	VRK2	Serine/threonine-protein kinase VRK2	Homo sapiens (Human)	PR

10	20	30	40	50	60
MEASLGIQMD	EPMAFSPQRD	RFQAEGSLKK	NEQNFKLAGV	KKDIEKLYEA	VPQLSNVFKI
70	80	90	100	110	120
EDKIGEGTFS	SVYLATAQLQ	VGPEEKIALK	HLIPTSHPIR	IAAELQCLTV	AGGQDNVMGV
130	140	150	160	170	180
KYCFRKNDHV	VIAMPYLEHE	SFLDILNSLS	FQEVREYMLN	LFKALKRIHQ	FGIVHRDVKP
190	200	210	220	230	240
SNFLYNRRLK	KYALVDFGLA	QGTHDTKIEL	LKFVQSEAQQ	ERCSQNKSHI	ITGNKIPLSG
250	260	270	280	290	300
PVPKELDQQS	TTKASVKRPY	TNAQIQIKQG	KDGKEGSVGL	SVQRSVFGER	NFNIHSSISH
310	320	330	340	350	360
ESPAVKLMKQ	SKTVDVLSRK	LATKKKAIST	KVMNSAVMRK	TASSCPASLT	CDCYATDKVC
370	380	390	400	410	420
SICLSRRQQV	APRAGTPGFR	APEVLTKCPN	QTTAIDMWSA	GVIFLSLLSG	RYPFYKASDD
430	440	450	460	470	480
LTALAQIMTI	RGSRETIQAA	KTFGKSILCS	KEVPAQDLRK	LCERLRGMDS	STPKLTSDIQ
490	500	510	520	530	540
GHASHQPAIS	EKTDHKASCL	VQTPPGQYSG	NSFKKGDSNS	CEHCFDEYNT	NLEGWNEVPD
550	560	570
EAYDLLDKLL	DLNPASRITA	EEALLHPFFK	DMSL