AiPD: Autoinhibited Protein Database

Q8IZL9

Gene name	CDK20 (CCRK, CDCH)
Protein name	Cyclin-dependent kinase 20
Names	CDK-activating kinase p42, CAK-kinase p42, Cell cycle-related kinase, Cell division protein kinase 20, Cyclin-dependent protein kinase H, Cyclin-kinase-activating kinase p42
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23552
EC number	2.7.11.22: Protein-serine/threonine kinases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

261-346 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

261-346 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

144-168 (Activation loop from InterPro)

Target domain	4-288 (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

1 structures for Q8IZL9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IZL9-F1	Predicted				AlphaFoldDB

394 variants for Q8IZL9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001812659 RCV000492039 RCV001849349 rs745561217 CA5114069	204	F>L	Global developmental delay Nephrotic syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA5114401 rs766135077	2	D>A		No	ClinGen ExAC gnomAD
rs373621335 CA195613131	2	D>Y		No	ClinGen Ensembl
CA5114400 rs758198659	3	Q>*		No	ClinGen ExAC gnomAD
CA373979668 rs758198659	3	Q>E		No	ClinGen ExAC gnomAD
rs750394238 CA5114399	3	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA373979666 rs1484187581	3	Q>R		No	ClinGen TOPMed gnomAD
rs202214490 CA373979657	4	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA588741820 rs1487041199	5	C>*		No	ClinGen gnomAD
rs775986857 CA5114397	6	I>T		No	ClinGen ExAC gnomAD
CA5114394 rs759791237	8	G>D		No	ClinGen ExAC gnomAD
COSM255981 rs767541571 CA5114395	8	G>S	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5114393 rs377279902	9	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1356584509 CA373979622	10	I>S		No	ClinGen TOPMed gnomAD
CA373979612 rs1398171654	12	E>*		No	ClinGen gnomAD
rs1362514521 CA373979604	13	G>S		No	ClinGen gnomAD
rs374349865 CA195613086	14	A>T		No	ClinGen TOPMed
CA5114391 rs138136908	15	H>Q		No	ClinGen ESP ExAC gnomAD
CA373979588 rs1273700494	16	G>S		No	ClinGen TOPMed
rs770438673 CA5114389	17	I>M		No	ClinGen ExAC gnomAD
CA373979576 rs1201831713	18	V>I		No	ClinGen TOPMed
rs1201831713 CA373979575	18	V>L		No	ClinGen TOPMed
rs1162362522 CA373979568	19	F>V		No	ClinGen gnomAD
rs576385275 CA5114388	20	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1222205239 CA373979551	21	A>D		No	ClinGen gnomAD
TCGA novel	21	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373979548 rs1476829866	22	K>E		No	ClinGen gnomAD
rs754508521 CA5114386	23	H>Q		No	ClinGen ExAC gnomAD
CA5114385 rs377600589	25	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA373979525 rs377600589	25	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA373979426 rs1314117680	26	T>A		No	ClinGen gnomAD
CA373979424 rs1434803675	26	T>I		No	ClinGen gnomAD
CA5114341 rs761038829	29	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1470987489 CA373979402	29	I>M		No	ClinGen gnomAD
rs1564161404 CA373979404	29	I>T		No	ClinGen Ensembl
CA373979407 rs761038829	29	I>V		No	ClinGen ExAC TOPMed gnomAD
CA373979397 rs1222822557	30	V>A		No	ClinGen TOPMed gnomAD
rs1222822557 CA373979396	30	V>G		No	ClinGen TOPMed gnomAD
rs956046565 CA195612673	31	A>V		No	ClinGen gnomAD
CA5114340 rs147786114	34	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA5114339 rs150114135	34	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs745580338 CA5114338	35	V>A		No	ClinGen ExAC TOPMed gnomAD
rs921913469 CA195612666	37	L>V		No	ClinGen TOPMed gnomAD
CA5114333 rs200054133	39	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5114334 rs200054133	39	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373979347 rs1242540614	39	R>W		No	ClinGen gnomAD
rs367666714 CA195612653	40	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA373979341 rs1564161298	40	L>S		No	ClinGen Ensembl
rs75741905 CA195612652	41	E>G		No	ClinGen Ensembl
rs750721533 CA5114329	42	D>A		No	ClinGen ExAC gnomAD
CA373979332 rs1414815831	42	D>H		No	ClinGen gnomAD
rs762065664 CA5114327	43	G>R		No	ClinGen ExAC gnomAD
rs762065664 CA5114328	43	G>S		No	ClinGen ExAC gnomAD
CA373979309 rs1292559621	45	P>H		No	ClinGen TOPMed
rs1168708376 CA373979311	45	P>S		No	ClinGen gnomAD
CA5114324 rs531677791	46	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5114325 rs531677791	46	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531677791 CA195612632	46	N>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767111178 CA5114322	47	Q>E		No	ClinGen ExAC
rs758966390 CA5114321	48	A>T		No	ClinGen ExAC gnomAD
rs1420584337 CA373979291	48	A>V		No	ClinGen gnomAD
rs150927336 CA195612607	51	E>D		No	ClinGen ESP TOPMed gnomAD
CA5114319 rs770584509	51	E>G		No	ClinGen ExAC gnomAD
CA5114318 rs748890170	53	K>E		No	ClinGen ExAC gnomAD
rs773026901 CA5114317	54	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1354021079 CA373979253	55	L>P		No	ClinGen TOPMed gnomAD
CA373979252 rs1354021079	55	L>R		No	ClinGen TOPMed gnomAD
rs769448515 CA373979255	55	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	56	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5114315 rs748169751	57	E>Q		No	ClinGen ExAC gnomAD
CA5114312 rs375016648	58	M>I		No	ClinGen ESP ExAC gnomAD
CA5114313 rs754874964	58	M>T		No	ClinGen ExAC TOPMed gnomAD
rs562782648 CA195612582	60	D>N		No	ClinGen 1000Genomes gnomAD
CA5114310 rs757580504	61	N>H		No	ClinGen ExAC
CA5114309 rs754081326	62	Q>K		No	ClinGen ExAC gnomAD
rs1397098744 CA373979202	62	Q>P		No	ClinGen gnomAD
CA5114308 rs747457856	63	Y>*		No	ClinGen ESP ExAC TOPMed
rs973836002 CA195610616	64	V>A		No	ClinGen gnomAD
CA5114266 rs769932384	64	V>L		No	ClinGen ExAC TOPMed gnomAD
CA373979176 rs769932384	64	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5114264 rs781454036	65	V>A		No	ClinGen ExAC TOPMed gnomAD
rs748362044 CA5114265	65	V>I		No	ClinGen ExAC gnomAD
rs1486384814 CA373979166	66	Q>*		No	ClinGen gnomAD
rs1486384814 CA373979168	66	Q>K		No	ClinGen gnomAD
CA195610601 rs1015277903 COSM1674601 COSM1674602	67	L>R	ovary [Cosmic]	No	ClinGen cosmic curated Ensembl
CA373979145 rs1314822169	69	A>G		No	ClinGen gnomAD
CA5114263 rs755317703	69	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	69	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752120731 CA5114262	70	V>L		No	ClinGen ExAC gnomAD
rs758842628 CA5114260	71	F>L		No	ClinGen ExAC gnomAD
rs1416947232 CA373979126	72	P>L		No	ClinGen TOPMed
rs9410653 CA373979120	73	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373979122 rs1416652579	73	H>R		No	ClinGen gnomAD
CA5114259 rs749920703	73	H>Y		No	ClinGen ExAC gnomAD
CA5114256 rs764037601	74	G>A		No	ClinGen ExAC gnomAD
CA5114255 rs764037601	74	G>D		No	ClinGen ExAC gnomAD
rs761408768 CA5114257	74	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760540412 CA5114254	75	G>R		No	ClinGen ExAC gnomAD
rs775356611 CA373979106	76	G>A		No	ClinGen ExAC TOPMed gnomAD
rs775356611 CA5114253	76	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1160950011 CA373979110	76	G>S		No	ClinGen TOPMed gnomAD
CA195610549 rs896746701	77	F>L		No	ClinGen Ensembl
rs759499348 CA5114251	78	V>A		No	ClinGen ExAC gnomAD
rs772151523 CA5114252	78	V>M		No	ClinGen ExAC gnomAD
CA5114249 rs769886503	79	L>M		No	ClinGen ExAC gnomAD
CA195610525 rs938184258	81	F>L		No	ClinGen TOPMed gnomAD
rs1348334911 CA373979079	81	F>L		No	ClinGen TOPMed
rs1321525635 CA373979071	82	E>D		No	ClinGen gnomAD
rs781467120 CA5114246	83	F>L		No	ClinGen ExAC gnomAD
rs758932557 CA5114242	84	M>K		No	ClinGen ExAC TOPMed gnomAD
CA5114243 rs758932557	84	M>T		No	ClinGen ExAC TOPMed gnomAD
rs143756400 CA5114244	84	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs746350961 CA5114241	85	L>P		No	ClinGen ExAC gnomAD
rs746350961 CA373979053	85	L>R		No	ClinGen ExAC gnomAD
rs28364953 CA5114240 VAR_024762	86	S>L		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1162597946 CA373979037	88	L>R		No	ClinGen gnomAD
rs376766367 CA5114234	89	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs376766367 CA5114235	89	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5114236 rs763841221	89	A>T		No	ClinGen ExAC gnomAD
rs759432942 CA5114232	90	E>K		No	ClinGen ExAC TOPMed gnomAD
rs564653137 CA373979023	91	V>L		No	ClinGen 1000Genomes
rs564653137 CA195610465	91	V>M		No	ClinGen 1000Genomes
CA373979018 rs200828251 CA5114230	92	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs761951896 CA5114229	93	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5114228 rs144310084	93	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5114227 rs768885451	95	A>V		No	ClinGen ExAC gnomAD
rs775868376 CA5114225	96	Q>E		No	ClinGen ExAC
rs772400848 CA5114224	98	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1395061297 CA373978965	101	Q>*		No	ClinGen gnomAD
rs1167291350 CA373978964	101	Q>P		No	ClinGen gnomAD
CA373978954 rs1587623691	102	A>V		No	ClinGen Ensembl
rs1460437228 CA373978949	103	Q>R		No	ClinGen gnomAD
rs892523635 CA195610420	104	V>I		No	ClinGen TOPMed gnomAD
CA373978934 COSM1569883 rs1207835904 COSM1569882	105	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1374267547 CA373978936	105	K>R		No	ClinGen TOPMed gnomAD
CA195610395 rs200737032	106	S>G		No	ClinGen 1000Genomes
VAR_041957 rs41286029 CA5114222	106	S>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5114221 rs757636291	108	L>R		No	ClinGen ExAC gnomAD
rs1250770459 CA373978910	109	Q>R		No	ClinGen gnomAD
CA5114220 rs748842542	110	M>I		No	ClinGen ExAC
rs965150299 CA195610391	110	M>L		No	ClinGen TOPMed
CA373978892 rs1336399418	112	L>F		No	ClinGen gnomAD
rs777370245 CA5114219	112	L>P		No	ClinGen ExAC gnomAD
rs755864917 CA373978883	113	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1394523485 CA373978888	113	K>Q		No	ClinGen TOPMed gnomAD
CA373978878 rs1194562233	114	G>D		No	ClinGen gnomAD
CA373978881 rs1455347024	114	G>S		No	ClinGen TOPMed
rs752366494 CA5114217	115	V>F		No	ClinGen ExAC gnomAD
CA5114215 rs754792892	116	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1305925018 CA373978838	120	A>D		No	ClinGen gnomAD
TCGA novel	120	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5114213 rs766346750	121	N>H		No	ClinGen ExAC gnomAD
CA5114212 rs762743425	122	N>I		No	ClinGen ExAC gnomAD
rs764125008 CA5114210	123	I>T		No	ClinGen ExAC
CA373978809 rs1326708024	125	H>N		No	ClinGen TOPMed
rs1298196228 CA373978805	125	H>R		No	ClinGen gnomAD
rs1326708024 CA373978807	125	H>Y		No	ClinGen TOPMed
CA5114208 rs200880555	126	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs760931795 CA5114209	126	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773843473 CA5114185	127	D>N		No	ClinGen ExAC gnomAD
CA373978764 rs1353560932	130	P>S		No	ClinGen gnomAD
rs1294520351 CA373978760	131	A>T		No	ClinGen gnomAD
CA373978748 rs1564157732	132	N>K		No	ClinGen Ensembl
rs1414881460 CA373978746	133	L>M		No	ClinGen gnomAD
CA5114181 rs28364955 VAR_024763	137	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs187262831 CA5114180	138	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs758110676 CA5114178	139	G>D		No	ClinGen ExAC gnomAD
CA5114179 rs779946018	139	G>S		No	ClinGen ExAC gnomAD
rs778826223 CA5114176	140	Q>E		No	ClinGen ExAC gnomAD
CA373978706 rs778826223	140	Q>K		No	ClinGen ExAC gnomAD
rs563239873 CA5114175 CA373978687	142	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5114174 rs752794930	143	I>V		No	ClinGen ExAC gnomAD
CA5114172 rs759844599	144	A>E		No	ClinGen ExAC TOPMed gnomAD
rs759844599 CA5114173	144	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	145	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs991888180 CA195610104	146	F>S		No	ClinGen Ensembl
CA373978657 rs1275000049	147	G>A		No	ClinGen gnomAD
CA373978659 rs1332515110	147	G>S		No	ClinGen gnomAD
rs1233318712 CA373978654	148	L>V		No	ClinGen gnomAD
rs773649314 CA5114168	150	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5114167 rs770440691	150	R>P		No	ClinGen ExAC TOPMed gnomAD
rs770440691 CA373978643	150	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA373978639 rs1587622296	151	V>F		No	ClinGen Ensembl
CA373978636 rs1587622281	151	V>G		No	ClinGen Ensembl
TCGA novel	152	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA195610097 rs62576798	152	F>L		No	ClinGen Ensembl
rs1325567742 CA373978626	153	S>A		No	ClinGen gnomAD
rs533645713 CA5114165	153	S>F		No	ClinGen 1000Genomes ExAC
TCGA novel	153	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5114164 rs768026111	154	P>S		No	ClinGen ExAC gnomAD
rs371154514 CA5114161 CA5114160	155	D>E		No	ClinGen ExAC TOPMed gnomAD
CA5114163 rs746728938	155	D>G		No	ClinGen ExAC TOPMed gnomAD
CA373978616 rs1397276988	155	D>H		No	ClinGen TOPMed gnomAD
TCGA novel	156	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5114159 rs141798102	156	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5114157 rs749193605	157	S>G		No	ClinGen ExAC TOPMed gnomAD
CA5114156 rs781383546	157	S>N		No	ClinGen ExAC gnomAD
CA373978607 rs749193605	157	S>R		No	ClinGen ExAC TOPMed gnomAD
rs138173042 CA5114155	158	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751877021 CA5114154	158	R>H		No	ClinGen ExAC gnomAD
CA373978594 rs1195717652	159	L>P		No	ClinGen TOPMed
CA373978598 rs1254699946	159	L>V		No	ClinGen gnomAD
CA373978580 rs1437223296	161	T>I		No	ClinGen TOPMed gnomAD
rs1437223296 CA373978581	161	T>R		No	ClinGen TOPMed gnomAD
CA373978578 rs1270263001	162	H>N		No	ClinGen gnomAD
CA5114152 rs376251813	162	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA373978574 rs1215815520	162	H>R		No	ClinGen gnomAD
CA373978565 rs1302278108	163	Q>H		No	ClinGen gnomAD
CA373978558 rs1587622042	164	V>G		No	ClinGen Ensembl
rs150335552 CA195610047	165	A>V		No	ClinGen Ensembl
rs750842971 CA5114150	167	R>T		No	ClinGen ExAC gnomAD
CA5114121 rs759237083	168	W>*		No	ClinGen ExAC gnomAD
CA373978520 rs1587621482	169	Y>S		No	ClinGen Ensembl
CA5114120 rs773980056	170	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5114119 rs777935532	170	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1587621462 CA373978511	171	A>P		No	ClinGen Ensembl
rs748082212 CA5114115	173	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5114114 rs780324274	173	E>V		No	ClinGen ExAC gnomAD
rs746155488 CA5114112	176	Y>F		No	ClinGen ExAC gnomAD
rs138822378 CA5114111	179	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs565837414 CA5114110	179	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA373978427 rs1338441988	184	G>S		No	ClinGen TOPMed gnomAD
TCGA novel	185	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377248921 CA5114107	185	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1475919525 CA373978415	186	D>N		No	ClinGen TOPMed gnomAD
CA16044227 rs1057519438	188	W>*		No	ClinGen gnomAD
rs753179373 CA5114105	188	W>*		No	ClinGen ExAC gnomAD
CA373978386 rs1057519438	188	W>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1256294519 CA373978402	188	W>R		No	ClinGen gnomAD
CA373978399 rs753179373	188	W>S		No	ClinGen ExAC gnomAD
TCGA novel	190	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs527972382 CA5114077	191	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA373978364 rs1436726154	192	C>Y		No	ClinGen TOPMed
rs1295719575 CA373978358	193	I>V		No	ClinGen TOPMed
rs764146080 CA5114075	194	M>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	194	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs572683683 CA5114074	195	G>E		No	ClinGen ExAC TOPMed gnomAD
CA373978338 rs774612021	196	E>K		No	ClinGen ExAC gnomAD
rs774612021 CA5114073	196	E>Q		No	ClinGen ExAC gnomAD
CA5114071 rs749529423	200	G>A		No	ClinGen ExAC gnomAD
rs1194111795 CA373978305	201	S>P		No	ClinGen gnomAD
CA373978299 rs568591129	202	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5114070 rs568591129	202	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373978293 rs1210421623	203	L>F		No	ClinGen gnomAD
rs748528097 CA5114068	205	P>L		No	ClinGen ExAC TOPMed gnomAD
rs755513549 CA5114066	206	G>C		No	ClinGen ExAC gnomAD
rs1351788453 CA373978266	207	K>N		No	ClinGen gnomAD
rs531734804 CA5114065	207	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5114064 rs149053570	208	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5114061 rs764954066	209	D>G		No	ClinGen ExAC gnomAD
rs749832611 CA5114062	209	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1466904395 CA373978251	210	I>V		No	ClinGen gnomAD
CA5114060 rs756918547	211	E>*		No	ClinGen ExAC TOPMed gnomAD
rs753715827 CA5114059	212	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1187315434 CA373978217	215	Y>H		No	ClinGen gnomAD
rs1187315434 CA373978215	215	Y>N		No	ClinGen gnomAD
rs760742770 CA5114057	216	V>M		No	ClinGen ExAC TOPMed gnomAD
rs137929831 CA5114055	218	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs150288403 CA5114054	218	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA373978194 rs1299372843	219	I>L		No	ClinGen TOPMed
rs1439227493 CA373978188	219	I>M		No	ClinGen gnomAD
CA373978175 rs1331145578	221	G>D		No	ClinGen gnomAD
rs1398668804 CA373978167	223	P>A		No	ClinGen TOPMed
CA5114053 rs773109910	223	P>L		No	ClinGen ExAC gnomAD
CA5114051 rs748332147	225	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1052187098 CA195609466	227	V>G		No	ClinGen Ensembl
rs893580258 CA195609472	227	V>I		No	ClinGen gnomAD
CA373978136 rs1384681039	228	W>R		No	ClinGen TOPMed gnomAD
rs545862742 CA5114047	229	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs545862742 CA5114048	229	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA195609458 rs868807578	229	P>S		No	ClinGen Ensembl
CA5114019 rs201816662	230	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1243307343 CA373978112	230	E>K		No	ClinGen TOPMed
CA373978093 rs1409489670	232	T>N		No	ClinGen gnomAD
rs186722916 CA5114015	235	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1248406478 CA373978057	236	D>E		No	ClinGen gnomAD
CA373978048 rs1198899030	237	Y>*		No	ClinGen TOPMed gnomAD
rs907323696 CA195609027	238	N>K		No	ClinGen Ensembl
rs536801172 CA195609030	238	N>S		No	ClinGen gnomAD
CA373978032 rs753853722	239	K>N		No	ClinGen ExAC
rs1240327568 CA373978038	239	K>Q		No	ClinGen gnomAD
CA373977994 rs1587617772	244	E>K		No	ClinGen Ensembl
rs1044478896 CA195609021	245	Q>*		No	ClinGen Ensembl
rs948756677 CA195609020	245	Q>R		No	ClinGen Ensembl
rs1279989830 CA373977959	248	M>T		No	ClinGen gnomAD
rs775960700 CA5114009	248	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs774994161 CA5114006	251	E>A		No	ClinGen ExAC TOPMed
CA373977937 rs1275933824	251	E>Q		No	ClinGen gnomAD
rs777370060 CA5114003	252	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5114004 rs748821346	252	E>V		No	ClinGen ExAC TOPMed gnomAD
CA373977920 rs1430565408	253	V>E		No	ClinGen gnomAD
rs1403719210 CA373977923	253	V>M		No	ClinGen TOPMed
CA373977912 rs1412573237	254	L>R		No	ClinGen TOPMed gnomAD
CA373977913 rs1172727847	254	L>V		No	ClinGen gnomAD
CA373977886 rs1469615212	257	V>A		No	ClinGen TOPMed gnomAD
rs140721514 CA5114000	257	V>I		No	ClinGen ESP ExAC gnomAD
CA195608972 rs371639597	259	P>L		No	ClinGen ESP TOPMed
CA195608975 rs947488512	259	P>S		No	ClinGen TOPMed
CA373977855 rs779975575	261	A>G		No	ClinGen ExAC gnomAD
rs182185602 CA373977856	261	A>S		No	ClinGen 1000Genomes gnomAD
rs182185602 CA195608966	261	A>T		No	ClinGen 1000Genomes gnomAD
CA5113997 rs779975575 COSM1200557 COSM1200556	261	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1314290992 CA373977846	262	L>W		No	ClinGen gnomAD
rs1279856968 CA373977841	263	D>H		No	ClinGen TOPMed gnomAD
CA373977833 rs1223713527	264	L>M		No	ClinGen gnomAD
rs758278980 CA5113996	267	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs561972246 CA195608930	267	Q>P		No	ClinGen 1000Genomes
rs1290224899 CA373977799	268	F>L		No	ClinGen gnomAD
rs1410536674 CA373977795	268	F>L		No	ClinGen gnomAD
CA5113994 rs764125059	270	L>I		No	ClinGen ExAC gnomAD
CA5113993 rs756406227	271	Y>H		No	ClinGen ExAC gnomAD
CA373977774 rs1587617475	271	Y>S		No	ClinGen Ensembl
CA373977745 rs1358019762	274	H>Q		No	ClinGen TOPMed gnomAD
rs923818970 CA195608891	275	Q>H		No	ClinGen gnomAD
CA5113991 rs767990766	276	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5113990 rs369652911	276	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5113988 rs146863842	277	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs542111446 CA5113987	278	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1179745276 CA373977698	280	S>F		No	ClinGen TOPMed gnomAD
CA5113986 rs372790696	281	K>E		No	ClinGen ESP ExAC gnomAD
rs562649016 CA5113983	281	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs28364963 VAR_024764 CA5113985	281	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA373977674 rs1468477682	282	A>D		No	ClinGen gnomAD
rs1468477682 CA373977673	282	A>G		No	ClinGen gnomAD
CA195607593 rs918641074	282	A>T		No	ClinGen Ensembl
CA373977646 rs1564153953	285	H>R		No	ClinGen Ensembl
CA373977628 rs1263687427	287	Y>C		No	ClinGen TOPMed gnomAD
rs1263687427 CA373977629	287	Y>S		No	ClinGen TOPMed gnomAD
rs1187037434 CA373977622	288	F>L		No	ClinGen TOPMed
CA373977603 rs1587613135	290	T>A		No	ClinGen Ensembl
rs1322515496 CA373977599	290	T>R		No	ClinGen gnomAD
CA373977595 rs1295088084	291	A>T		No	ClinGen gnomAD
rs1226530747 CA373977590	291	A>V		No	ClinGen gnomAD
rs967065854 CA195607591	292	P>L		No	ClinGen TOPMed gnomAD
rs972763345 CA195607592	292	P>S		No	ClinGen Ensembl
CA373977576 rs1165551222	293	L>P		No	ClinGen TOPMed
rs1389943445 CA373977566	294	P>L		No	ClinGen gnomAD
CA195607590 rs949364041	295	A>T		No	ClinGen TOPMed gnomAD
rs1014017495 CA195607587	298	S>C		No	ClinGen TOPMed
CA373977535 rs1350000332	298	S>P		No	ClinGen gnomAD
CA195607579 rs894292510	300	L>P		No	ClinGen TOPMed
rs761237402 CA5113965	301	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1246540845 CA373977501	302	I>T		No	ClinGen TOPMed
rs917196946 CA195607555	303	P>S		No	ClinGen Ensembl
CA195607535 rs992747412	305	R>C		No	ClinGen TOPMed gnomAD
CA195607538 rs992747412	305	R>G		No	ClinGen TOPMed gnomAD
CA5113964 COSM1569885 rs376253655 COSM1569884	305	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5113963 rs768220194	306	L>P		No	ClinGen ExAC gnomAD
CA5113962 rs546834228	307	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA373977456 rs536058766	308	G>E		No	ClinGen 1000Genomes TOPMed
rs536058766 CA195607505	308	G>V		No	ClinGen 1000Genomes TOPMed
rs1203283437 CA373977455	309	P>T		No	ClinGen TOPMed gnomAD
rs1344592835 CA373977449	310	A>S		No	ClinGen gnomAD
CA373977448 rs1344592835	310	A>T		No	ClinGen gnomAD
rs1276442620 CA373977441	311	P>S		No	ClinGen gnomAD
CA373977429 rs1330406038	313	A>T		No	ClinGen gnomAD
rs771839370 CA5113960	313	A>V		No	ClinGen ExAC gnomAD
CA373977423 rs1367679044	314	H>D		No	ClinGen gnomAD
CA373977400 rs1587612815	317	P>H		No	ClinGen Ensembl
rs1411967033 CA373977404	317	P>T		No	ClinGen gnomAD
rs1047026908 CA195607474	318	P>R		No	ClinGen TOPMed
CA5113955 rs151084868	319	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373977393 rs151084868	319	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749463697	319	H>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs749463697	319	H>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs151084868 CA5113956	319	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA195607444 rs867372602	321	H>Y		No	ClinGen Ensembl
CA373977368 rs1465830604	322	D>V		No	ClinGen gnomAD
CA5113953 rs755195947	323	F>L		No	ClinGen ExAC gnomAD
rs751810960 CA5113952	324	H>L		No	ClinGen ExAC gnomAD
rs911387002 CA195607435	324	H>Y		No	ClinGen TOPMed gnomAD
rs56736734 CA195607401	325	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5113950 rs56736734	325	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1192063245 CA373977344	326	D>G		No	ClinGen gnomAD
rs1252848084 CA373977347	326	D>H		No	ClinGen gnomAD
CA373977339 rs1254082419	327	R>Q		No	ClinGen gnomAD
CA5113949 rs750753248	327	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA373977331 rs1206372928	328	P>L		No	ClinGen TOPMed
rs1235319450 CA373977330	329	L>I		No	ClinGen gnomAD
rs765679617 CA5113948	330	E>Q		No	ClinGen ExAC
CA5113947 rs762337811	331	E>*		No	ClinGen ExAC TOPMed gnomAD
CA5113946 rs753325373	331	E>A		No	ClinGen ExAC TOPMed gnomAD
CA373977317 rs762337811	331	E>K		No	ClinGen ExAC TOPMed gnomAD
rs148526196 CA5113945	332	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs774986947 CA5113943	335	N>S		No	ClinGen ExAC gnomAD
TCGA novel	336	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753328488 CA195607368	340	R>Q		No	ClinGen TOPMed gnomAD
COSM1463485 COSM1463486 CA5113941 rs759457795	340	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs200199265 CA5113939	341	P>S		No	ClinGen ExAC TOPMed gnomAD
CA373977243 rs1412854696	343	I>L		No	ClinGen gnomAD
rs931462301 CA195607358	343	I>S		No	ClinGen Ensembl
CA5113938 rs749137955	345	E>A		No	ClinGen ExAC gnomAD
CA195607352 rs370501448	346	G>E		No	ClinGen ESP TOPMed gnomAD
TCGA novel	347	G>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q8IZL9

4 regional properties for Q8IZL9

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	4 - 288	IPR000719
active_site	Serine/threonine-protein kinase, active site	123 - 135	IPR008271
binding_site	Protein kinase, ATP binding site	10 - 33	IPR017441
domain	Cyclin-dependent kinase 20-like, catalytic domain	3 - 289	IPR048002

Functions

		Description
EC Number	2.7.11.22	Protein-serine/threonine kinases
Subcellular Localization	Nucleus Cytoplasm Cell projection, cilium
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cilium	A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.

3 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cyclin-dependent protein serine/threonine kinase activity	Cyclin-dependent catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.

12 GO annotations of biological process

Name	Definition
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
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.
embryonic brain development	The process occurring during the embryonic phase whose specific outcome is the progression of the brain over time, from its formation to the mature structure.
embryonic camera-type eye development	The process occurring during the embryonic phase whose specific outcome is the progression of the eye over time, from its formation to the mature structure.
embryonic skeletal system development	The process, occurring during the embryonic phase, whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure.
floor plate formation	The formation of a ventral region of glial cells in the neural tube that provides inductive signals for the specification of neuronal cell types. The floor plate is evident at the ventral midline by the neural fold stage.
negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning	Any process that stops, prevents or reduces the frequency, rate or extent of smoothened signaling pathway involved in dorsal/ventral neural tube patterning.
neural tube closure	The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline.
protein localization to cilium	A process in which a protein is transported to, or maintained in, a location within a cilium.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of protein maturation	Any process that modulates the frequency, rate or extent of protein maturation.
roof of mouth development	The biological process whose specific outcome is the progression of the roof of the mouth from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure. The roof of the mouth is the partition that separates the nasal and oral cavities.

20 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q15131	CDK10	Cyclin-dependent kinase 10	Homo sapiens (Human)	PR
Q9UQ88	CDK11A	Cyclin-dependent kinase 11A	Homo sapiens (Human)	PR
Q00526	CDK3	Cyclin-dependent kinase 3	Homo sapiens (Human)	PR
Q96Q40	CDK15	Cyclin-dependent kinase 15	Homo sapiens (Human)	PR
O94921	CDK14	Cyclin-dependent kinase 14	Homo sapiens (Human)	PR
Q00537	CDK17	Cyclin-dependent kinase 17	Homo sapiens (Human)	PR
P49336	CDK8	Cyclin-dependent kinase 8	Homo sapiens (Human)	PR
Q9BWU1	CDK19	Cyclin-dependent kinase 19	Homo sapiens (Human)	PR
P50750	CDK9	Cyclin-dependent kinase 9	Homo sapiens (Human)	PR
Q5MAI5	CDKL4	Cyclin-dependent kinase-like 4	Homo sapiens (Human)	PR
Q00532	CDKL1	Cyclin-dependent kinase-like 1	Homo sapiens (Human)	PR
Q92772	CDKL2	Cyclin-dependent kinase-like 2	Homo sapiens (Human)	PR
P21127	CDK11B	Cyclin-dependent kinase 11B	Homo sapiens (Human)	PR
Q9JHU3	Cdk20	Cyclin-dependent kinase 20	Mus musculus (Mouse)	PR
Q4KM34	Cdk20	Cyclin-dependent kinase 20	Rattus norvegicus (Rat)	PR
P29620	CDKD-1	Cyclin-dependent kinase D-1	Oryza sativa subsp japonica (Rice)	PR
Q5Z754	CDKF-1	Cyclin-dependent kinase F-1	Oryza sativa subsp japonica (Rice)	PR
Q9LMT0	CDKD-3	Cyclin-dependent kinase D-3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9C9U2	CDKD-1	Cyclin-dependent kinase D-1	Arabidopsis thaliana (Mouse-ear cress)	PR
A8WIP6	cdk20	Cyclin-dependent kinase 20	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MDQYCILGRI	GEGAHGIVFK	AKHVETGEIV	ALKKVALRRL	EDGFPNQALR	EIKALQEMED
70	80	90	100	110	120
NQYVVQLKAV	FPHGGGFVLA	FEFMLSDLAE	VVRHAQRPLA	QAQVKSYLQM	LLKGVAFCHA
130	140	150	160	170	180
NNIVHRDLKP	ANLLISASGQ	LKIADFGLAR	VFSPDGSRLY	THQVATRWYR	APELLYGARQ
190	200	210	220	230	240
YDQGVDLWSV	GCIMGELLNG	SPLFPGKNDI	EQLCYVLRIL	GTPNPQVWPE	LTELPDYNKI
250	260	270	280	290	300
SFKEQVPMPL	EEVLPDVSPQ	ALDLLGQFLL	YPPHQRIAAS	KALLHQYFFT	APLPAHPSEL
310	320	330	340
PIPQRLGGPA	PKAHPGPPHI	HDFHVDRPLE	ESLLNPELIR	PFILEG