AiPD: Autoinhibited Protein Database

O14730

Gene name	RIOK3 (SUDD)
Protein name	Serine/threonine-protein kinase RIO3
Names	RIO kinase 3, sudD homolog
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8780
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)

82-166 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

82-166 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for O14730

Entry ID	Method	Resolution	Chain	Position	Source
AF-O14730-F1	Predicted				AlphaFoldDB

376 variants for O14730

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1466149539 CA401780115	3	L>V		No	ClinGen TOPMed gnomAD
rs1288206472 CA401780123	4	V>A		No	ClinGen TOPMed
CA401780124 rs1288206472	4	V>G		No	ClinGen TOPMed
rs764877311 COSM1750468 CA8911413	8	S>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC
rs1193191789 CA401780159	9	P>S		No	ClinGen gnomAD
rs1406043094 CA401780174	10	E>D		No	ClinGen TOPMed gnomAD
CA401780187 rs1159851657	12	G>R		No	ClinGen gnomAD
CA8911415 rs758713188	14	A>V		No	ClinGen ExAC gnomAD
rs374202873 CA8911417	18	G>E		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs764481581 CA8911416	18	G>R		No	ClinGen ExAC gnomAD
CA8911418 rs757759355	19	P>S		No	ClinGen ExAC gnomAD
rs745938445 CA8911420	20	S>N		No	ClinGen ExAC TOPMed gnomAD
CA8911419 rs143310151	20	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756195351 CA8911421	21	K>M		No	ClinGen ExAC gnomAD
rs777499107 CA8911443	26	I>V		No	ClinGen ExAC TOPMed gnomAD
rs367644955 CA8911444	27	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA401781919 rs1274869735	31	I>M		No	ClinGen Ensembl
CA8911445 rs770658209	31	I>V		No	ClinGen ExAC gnomAD
CA401781930 rs1410856569	33	C>F		No	ClinGen TOPMed gnomAD
CA401781933 rs1168897069	33	C>W		No	ClinGen gnomAD
CA401781929 rs1410856569	33	C>Y		No	ClinGen TOPMed gnomAD
TCGA novel	34	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8911447 rs574279502	36	A>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	37	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401781960 rs769335281	38	V>I		No	ClinGen ExAC TOPMed gnomAD
rs769335281 CA8911448	38	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1341026242 CA401781971	39	M>I		No	ClinGen gnomAD
CA8911450 rs762569874	43	L>V		No	ClinGen ExAC TOPMed gnomAD
CA401782006 rs1343810875	44	A>G		No	ClinGen TOPMed gnomAD
rs927327534 CA297071667	46	E>K		No	ClinGen TOPMed
CA297071674 rs112166210	47	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	48	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1228868020 CA401782046	48	Q>R		No	ClinGen gnomAD
CA401782066 rs773807572	50	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8911453 rs773807572	50	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1382267147 CA401782090	51	E>G		No	ClinGen gnomAD
rs201383568 CA8911455	52	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8911454 rs762251854	52	E>Q		No	ClinGen ExAC gnomAD
rs1444168935 CA401782119	53	A>P		No	ClinGen gnomAD
rs1191726560 CA401782133	54	A>V		No	ClinGen TOPMed gnomAD
CA8911457 rs761229779	55	V>A		No	ClinGen ExAC gnomAD
CA8911456 rs138447722	55	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	57	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200387789 CA8911458 COSM987050	60	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA401782310 rs1377842465	61	V>F		No	ClinGen TOPMed gnomAD
CA401782307 rs1377842465	61	V>I		No	ClinGen TOPMed gnomAD
CA8911474 rs773688065	62	A>S		No	ClinGen ExAC gnomAD
CA401782441 rs1568381767	68	T>S		No	ClinGen Ensembl
CA401782451 rs1322422159	69	G>E		No	ClinGen gnomAD
rs1317821277 CA401782491	72	I>V		No	ClinGen TOPMed
rs765792971 CA8911479	75	S>C		No	ClinGen ExAC TOPMed gnomAD
CA297072214 rs985657744	77	D>E		No	ClinGen TOPMed
rs1379023288 CA401782569	77	D>N		No	ClinGen TOPMed
CA8911480 rs765191485	79	M>V		No	ClinGen ExAC gnomAD
CA8911481 rs753005013	80	L>V		No	ClinGen ExAC gnomAD
rs758599271 CA8911482	82	Q>*		No	ClinGen ExAC gnomAD
rs781024819 CA8911483	82	Q>H		No	ClinGen ExAC gnomAD
rs753292006 CA297072231	86	M>I		No	ClinGen Ensembl
CA297072225 rs376031756	86	M>R		No	ClinGen ESP TOPMed
rs1801992 CA297072232	87	E>*		No	ClinGen Ensembl
rs1177152374 CA401782744	88	Y>N		No	ClinGen gnomAD
rs749130806 CA8911487	91	E>*		No	ClinGen ExAC gnomAD
rs912486061 CA297072237	91	E>G		No	ClinGen gnomAD
CA297072239 rs943948773	92	Y>C		No	ClinGen Ensembl
CA401782847 rs1410632170	94	A>T		No	ClinGen TOPMed gnomAD
CA401782866 rs1473798004	95	Q>R		No	ClinGen gnomAD
CA8911489 rs199843431	98	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1568381872 CA401782973	102	K>E		No	ClinGen Ensembl
TCGA novel	103	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1415574167 CA401783006	104	N>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1336328055 CA401783025	104	N>K		No	ClinGen gnomAD
COSM3773372 CA401783014 rs1460732073	104	N>S	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs747849881 CA8911491	105	G>R		No	ClinGen ExAC gnomAD
rs1393175653 CA401783050	106	D>G		No	ClinGen gnomAD
rs771834858 CA8911492	107	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs202142594 CA8911493 COSM1750470	109	V>I	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs771368177 CA8911513	110	S>A		No	ClinGen ExAC gnomAD
CA401783157 rs1315404995	111	I>V		No	ClinGen TOPMed gnomAD
rs776839395 CA8911515	114	E>Q		No	ClinGen ExAC gnomAD
rs1365760996 CA401783209	116	Y>F		No	ClinGen TOPMed
rs756927666 CA297072330	117	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs780828655 CA8911516	117	R>Q	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1206709367 CA401783227	119	V>A		No	ClinGen gnomAD
CA401783223 rs1455881700	119	V>M		No	ClinGen TOPMed
CA401783242 rs1367878924	121	P>L		No	ClinGen TOPMed
CA401783237 rs1182434156	121	P>S		No	ClinGen gnomAD
rs534065110 CA297072338	122	Y>H		No	ClinGen gnomAD
CA8911518 rs775907070	122	Y>S		No	ClinGen ExAC gnomAD
rs764111393 CA8911520	125	S>G		No	ClinGen ExAC gnomAD
CA401783301 rs1171980237	126	D>G		No	ClinGen gnomAD
CA401783294 rs745332289	126	D>H		No	ClinGen TOPMed
CA297072357 rs745332289	126	D>N		No	ClinGen TOPMed
CA8911522 rs761905748	128	S>C		No	ClinGen ExAC gnomAD
rs535903948 CA8911523	130	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1305178434 CA401783387	132	V>L		No	ClinGen gnomAD
CA8911524 rs753558981	133	D>N		No	ClinGen ExAC gnomAD
CA8911525 rs755008444	134	W>*		No	ClinGen ExAC gnomAD
CA401783422 rs755008444	134	W>C		No	ClinGen ExAC gnomAD
rs765103360 CA8911526	135	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs144117791 CA297072384	135	Q>R		No	ClinGen ESP TOPMed
rs1365513192 CA401783444	136	D>A		No	ClinGen gnomAD
CA401783456 rs1230223993	137	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8911528 rs200463683	138	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8911527 rs200463683	138	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs147314004 CA8911529	138	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs147314004 CA297072392	138	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1210129462 CA401783505	141	P>A		No	ClinGen gnomAD
rs746708166 CA8911530	144	P>A		No	ClinGen ExAC gnomAD
CA8911551 rs750042177	145	A>V		No	ClinGen ExAC gnomAD
CA8911552 rs756465939	147	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1460219305 CA401783602	147	P>S		No	ClinGen TOPMed gnomAD
CA401783610 rs1436808142	148	V>A		No	ClinGen TOPMed gnomAD
TCGA novel	148	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	149	P>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	149	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1465751944 CA401783619	150	T>A		No	ClinGen TOPMed
rs570800417 CA297072501	150	T>I		No	ClinGen gnomAD
CA297072503 rs768512995	152	K>T		No	ClinGen Ensembl
rs1172639235 CA401783655	155	F>C		No	ClinGen TOPMed
CA401783658 rs1447718169	156	I>V		No	ClinGen TOPMed
rs1288919155 CA401783665 CA401783666	157	G>R		No	ClinGen gnomAD
CA401783697 rs749839748	161	D>G		No	ClinGen ExAC gnomAD
CA8911554 rs749839748	161	D>V		No	ClinGen ExAC gnomAD
rs201388220 CA8911555	162	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1226423164 CA401783701	162	I>V		No	ClinGen gnomAD
rs965940445 CA297072513	163	T>A		No	ClinGen TOPMed
rs149243053 CA8911556	165	K>I		No	ClinGen ESP ExAC TOPMed
CA297072517 rs149243053	165	K>R		No	ClinGen ESP ExAC TOPMed
CA401783737 CA401783738 rs1322070159	167	D>E		No	ClinGen TOPMed gnomAD
CA401783731 rs1251472468	167	D>N		No	ClinGen TOPMed
rs183225282 CA8911557	168	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA401783743 rs1339446128	168	E>V		No	ClinGen TOPMed
rs772144872 CA8911558	169	V>A		No	ClinGen ExAC TOPMed gnomAD
CA297072526 rs972609795	175	N>Y		No	ClinGen TOPMed
CA297072527 rs914297459	176	T>I		No	ClinGen TOPMed gnomAD
rs1474488480 CA401783799	177	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA401784112 rs1412249307	183	A>T		No	ClinGen gnomAD
CA401784150 rs1438292386	188	V>I		No	ClinGen TOPMed gnomAD
rs1333435087 CA401784157	189	G>E		No	ClinGen gnomAD
rs1333435087 CA401784159	189	G>V		No	ClinGen gnomAD
TCGA novel	193	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401784198 rs1449979720	195	D>Y		No	ClinGen TOPMed gnomAD
rs1005213257 CA297073037	199	S>L		No	ClinGen TOPMed
CA401784289 rs1364153098	200	N>S		No	ClinGen gnomAD
CA401784308 rs1229473313	201	H>R		No	ClinGen gnomAD
CA297073039 rs1015697128	201	H>Y		No	ClinGen TOPMed
CA401784324 rs1338314641	202	V>I		No	ClinGen TOPMed gnomAD
CA8911580 rs747257341	203	F>V		No	ClinGen ExAC gnomAD
CA297073043 rs922829288	204	N>S		No	ClinGen TOPMed gnomAD
CA8911581 rs771278691	205	A>V		No	ClinGen ExAC gnomAD
CA401784423 rs1444589644	208	Q>R		No	ClinGen gnomAD
rs35068677 CA297073051	209	H>R		No	ClinGen TOPMed
rs1373116335 CA401784467	210	A>S		No	ClinGen TOPMed
rs749110932 CA8911585	210	A>V		No	ClinGen ExAC TOPMed gnomAD
CA401784543 rs1188871402	214	E>*		No	ClinGen gnomAD
rs774183551 CA8911587	215	R>C		No	ClinGen ExAC TOPMed gnomAD
rs769981922 CA8911588	215	R>H		No	ClinGen ExAC gnomAD
CA401784581 rs1171431858 COSM987058	216	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs766980939 CA8911589	216	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs558017469 CA8911590	219	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8911591 rs370007403	219	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs370007403 CA401784627	219	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs766023685 CA8911592	224	K>E		No	ClinGen ExAC gnomAD
CA297073083 rs961606763	226	H>Y		No	ClinGen TOPMed
CA401785041 rs1417394248	231	K>E		No	ClinGen TOPMed
CA401785096 rs1330366732	235	P>A		No	ClinGen gnomAD
rs189141225 CA8911617	238	R>H		No	ClinGen 1000Genomes ExAC
rs759167749 CA8911619	241	M>T		No	ClinGen ExAC gnomAD
CA401785248 rs1177150586	244	M>I		No	ClinGen TOPMed
rs1406500195 CA401785244	244	M>T		No	ClinGen TOPMed
rs144520683 CA8911621	246	N>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA8911620 rs144520683	246	N>T		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1490697284 CA401785308	248	G>A		No	ClinGen gnomAD
TCGA novel	250	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8911623 rs764678694	251	E>G		No	ClinGen ExAC gnomAD
rs1598809029 CA401785400	253	I>V		No	ClinGen Ensembl
CA297073664 rs199598272	256	C>W		No	ClinGen Ensembl
rs75997373 CA297073667	257	I>V		No	ClinGen Ensembl
CA8911624 rs752066006	260	G>R		No	ClinGen ExAC gnomAD
CA401785539 CA401785541 rs1366551175	261	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
rs1466897280 CA401785583	263	S>F		No	ClinGen TOPMed
CA401785569 rs1212158187	263	S>T		No	ClinGen TOPMed
CA8911625 rs757441208	266	F>L		No	ClinGen ExAC gnomAD
rs781387004 CA8911626	266	F>S		No	ClinGen ExAC gnomAD
rs1393066392 CA401785674	267	H>R		No	ClinGen gnomAD
rs898785875 CA297073686	269	Y>*		No	ClinGen gnomAD
rs756342756 CA8911628	269	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA8911627 rs377395475	269	Y>H		No	ClinGen ESP ExAC gnomAD
CA401785738 rs1311188649	270	G>R		No	ClinGen TOPMed gnomAD
CA401785765 rs1340313198	271	G>R		No	ClinGen TOPMed gnomAD
rs1598809105 CA401785784	272	S>G		No	ClinGen Ensembl
rs1482862843 CA401786519	273	M>I		No	ClinGen TOPMed gnomAD
CA8911642 rs764328780	273	M>T		No	ClinGen ExAC TOPMed gnomAD
CA297076744 rs926599121	276	E>D		No	ClinGen Ensembl
CA401786557 rs1200931755	276	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	277	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1463364906 CA401786584	278	E>G		No	ClinGen TOPMed gnomAD
rs752149674 CA8911643	279	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1430391680 CA401786605	280	S>C		No	ClinGen TOPMed gnomAD
rs376972912 CA8911645	280	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8911646 rs750522221	281	K>E		No	ClinGen ExAC gnomAD
rs375000019 CA297076762	283	I>T		No	ClinGen ESP
rs756080387 CA8911647	287	C>R		No	ClinGen ExAC
rs978614634 CA297076767	287	C>Y		No	ClinGen TOPMed
rs780335558 CA401786702	289	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1339242298 CA401786712	291	V>I		No	ClinGen gnomAD
CA8911649 rs753957315	294	T>A		No	ClinGen ExAC gnomAD
rs1365400375 CA401786740	295	T>S		No	ClinGen gnomAD
CA8911650 rs758241947	297	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1311080080 CA401786759	298	E>K		No	ClinGen gnomAD
TCGA novel	300	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777523508 CA8911651	302	R>C		No	ClinGen ExAC TOPMed gnomAD
rs747008828 COSM987060 CA8911652	302	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs770852144 CA401786800	303	D>E		No	ClinGen ExAC TOPMed gnomAD
rs112975024 CA297076788	311	R>K		No	ClinGen TOPMed gnomAD
rs1250085093 CA401786861	311	R>S		No	ClinGen TOPMed gnomAD
rs112975024 CA401786858	311	R>T		No	ClinGen TOPMed gnomAD
CA401786872 rs1189667103	312	F>L		No	ClinGen gnomAD
rs769139969 CA8911656	314	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8911657 rs367683674	315	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8911658 rs762479878	315	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1205511468 CA401786907	316	F>L		No	ClinGen TOPMed
rs1160301746 CA401786922	317	S>N		No	ClinGen gnomAD
CA401786951 rs1347287953	320	N>H		No	ClinGen gnomAD
rs924585349 CA297076794	321	P>S		No	ClinGen TOPMed
rs1450206449 CA401786976	322	R>C		No	ClinGen gnomAD
CA8911659 rs370750384	322	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774839160 CA8911660	326	R>C		No	ClinGen ExAC gnomAD
COSM1223816 CA8911661 rs756485853	326	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1354629739 CA401787009	327	M>I		No	ClinGen TOPMed
CA297076805 rs992696606	327	M>T		No	ClinGen TOPMed
rs768141621 CA8911662	327	M>V		No	ClinGen ExAC gnomAD
CA401787025 rs1163700058	329	A>G		No	ClinGen gnomAD
rs1459374349 CA401787021	329	A>T		No	ClinGen gnomAD
rs1326926184 CA401787032	330	E>V		No	ClinGen gnomAD
rs760829161 CA8911664	333	M>I		No	ClinGen ExAC TOPMed gnomAD
CA297076812 rs575456446	334	H>P		No	ClinGen Ensembl
CA401787072 rs1297778744	335	N>K		No	ClinGen TOPMed
rs1394626906 CA401787071	335	N>S		No	ClinGen TOPMed
rs35401850 CA297076816 VAR_042355	336	L>V		No	ClinGen UniProt dbSNP gnomAD
rs199977739 CA297076823	337	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs199977739 CA8911666	337	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs148423683 CA297077191	339	M>I		No	ClinGen ESP
rs1272632409 CA401787165	341	R>K		No	ClinGen gnomAD
rs748537203 CA8911680	343	G>R		No	ClinGen ExAC TOPMed gnomAD
rs773886348 CA8911682	345	P>A		No	ClinGen ExAC gnomAD
CA401787251 rs1181586025	349	V>A		No	ClinGen TOPMed gnomAD
CA401787253 rs1181586025	349	V>G		No	ClinGen TOPMed gnomAD
rs1444903595 CA401787273	352	L>M		No	ClinGen gnomAD
rs1165065053 CA401787276	352	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1368232089 CA401787284	353	K>T		No	ClinGen gnomAD
rs761053507 CA8911683	357	L>F		No	ClinGen ExAC gnomAD
CA8911684 rs566708736	358	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs566708736 CA8911685	358	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759593902 CA8911686	359	M>L		No	ClinGen ExAC TOPMed gnomAD
rs765458779 CA8911687	362	I>V		No	ClinGen ExAC gnomAD
CA401787379 rs1159466703	363	G>S		No	ClinGen TOPMed
CA8911688 rs752870756	368	P>S		No	ClinGen ExAC TOPMed gnomAD
rs757077367 CA8911689	369	A>P		No	ClinGen ExAC gnomAD
CA8911691 rs750420591	375	V>I		No	ClinGen ExAC
rs1247910474 CA401787474	376	K>N		No	ClinGen TOPMed
rs1341550375 CA401787475	377	L>F		No	ClinGen gnomAD
CA401787479 rs1215174213	377	L>P		No	ClinGen gnomAD
rs779678121 CA8911693	378	N>T		No	ClinGen ExAC gnomAD
rs902375595 CA297077238	379	S>N		No	ClinGen gnomAD
rs1176129455 CA401787516	382	M>R		No	ClinGen TOPMed
rs1000617898 CA297077245	383	K>Q		No	ClinGen Ensembl
CA401787540 rs1462927208	385	A>V		No	ClinGen gnomAD
rs1185126579 CA401787545	386	Y>C		No	ClinGen TOPMed gnomAD
rs1185126579 CA401787546	386	Y>F		No	ClinGen TOPMed gnomAD
CA297077250 rs867495626	387	Y>C		No	ClinGen Ensembl
CA401787557 rs1465499251	388	Q>E		No	ClinGen gnomAD
rs142635228 CA8911695	390	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	392	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401787610 rs560105020	394	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs111330062 COSM473680 CA8911710	394	R>Q	kidney Variant assessed as Somatic; 9.243e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs560105020 CA8911709	394	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766237296 CA8911711	395	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA297077944 rs76225547	396	L>V		No	ClinGen gnomAD
CA297077948 rs200218496	397	Y>C		No	ClinGen Ensembl
CA401787636 rs1183115832	398	H>R		No	ClinGen TOPMed
rs753759254 CA8911712	398	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	399	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401787650 rs1387593800	400	C>G		No	ClinGen gnomAD
rs949681301 COSM3692088 CA297077952	401	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA401787663 rs1329487662	402	L>F		No	ClinGen gnomAD
rs1236887820 CA401787666	402	L>R		No	ClinGen TOPMed
CA8911714 rs778533483	406	D>H		No	ClinGen ExAC gnomAD
CA8911715 rs143494181	407	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8911716 rs758120300	408	S>G		No	ClinGen ExAC gnomAD
rs777419593 CA8911717	409	E>A		No	ClinGen ExAC gnomAD
TCGA novel	410	Y>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401787756 rs1255924190	415	H>R		No	ClinGen TOPMed
rs965238437 CA297038375	416	A>T		No	ClinGen TOPMed gnomAD
rs771278526 CA8911719	417	G>E		No	ClinGen ExAC gnomAD
rs747347439 CA8911718	417	G>R		No	ClinGen ExAC gnomAD
rs935541189 CA297038400	418	K>E		No	ClinGen Ensembl
rs1336729561 CA401770522	419	V>A		No	ClinGen gnomAD
CA401770520 rs1336729561	419	V>D		No	ClinGen gnomAD
rs766158061 CA8911728	419	V>I		No	ClinGen ExAC gnomAD
rs753865391 CA8911729	422	I>S		No	ClinGen ExAC TOPMed gnomAD
rs752261947 CA8911732	423	D>H		No	ClinGen ExAC TOPMed gnomAD
COSM987064 rs752261947 CA401770545	423	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs757923946 CA8911733	424	V>I		No	ClinGen ExAC gnomAD
CA8911734 rs777313842	429	E>K		No	ClinGen ExAC gnomAD
CA401770596 rs1249653058	430	P>L		No	ClinGen gnomAD
rs751187836 CA8911736	430	P>T		No	ClinGen ExAC gnomAD
rs757605830 CA8911737	431	T>A		No	ClinGen ExAC gnomAD
rs1598815940 CA401770601	431	T>I		No	ClinGen Ensembl
rs146753472 CA8911740	433	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8911739 rs746435158	433	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1164429575 CA401770617	434	H>R		No	ClinGen gnomAD
rs749379172 CA8911742	435	G>S		No	ClinGen ExAC TOPMed gnomAD
CA401770631 rs1307974558	436	L>P		No	ClinGen gnomAD
rs768730352 CA8911743	437	E>D		No	ClinGen ExAC gnomAD
rs1393531961 CA401770641	438	F>V		No	ClinGen gnomAD
rs33969048 CA8911745 VAR_042356	441	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8911744 rs141264189	441	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1482025759 CA401770706 CA401770708	442	D>E		No	ClinGen TOPMed gnomAD
CA8911746 rs770679026 COSM3959073	442	D>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8911747 rs776552183	444	R>G		No	ClinGen ExAC gnomAD
TCGA novel	444	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765280538 CA8911749	446	V>F		No	ClinGen ExAC gnomAD
rs56282762 CA8911750 VAR_042357	447	S>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs572590558 CA297039592	453	G>A		No	ClinGen ExAC gnomAD
rs572590558 CA8911769	453	G>E		No	ClinGen ExAC gnomAD
CA297039597 rs946099259	456	K>E		No	ClinGen TOPMed
CA8911770 rs769672486	457	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1386876419 CA401771031	458	A>T		No	ClinGen gnomAD
CA401771039 rs1351509898	459	L>F		No	ClinGen gnomAD
COSM987066 rs1174527802 CA401771060	462	R>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs148958408 CA401771061	462	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8911771 rs148958408	462	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762929367 CA8911772	463	E>A		No	ClinGen ExAC TOPMed gnomAD
rs762929367 CA8911773	463	E>V		No	ClinGen ExAC TOPMed gnomAD
rs202186486 CA297039639	466	N>S		No	ClinGen TOPMed gnomAD
CA8911774 rs773910241	467	A>T		No	ClinGen ExAC gnomAD
rs761159341 CA8911775	468	V>L		No	ClinGen ExAC gnomAD
CA401771104 rs1234128756	469	S>L		No	ClinGen gnomAD
CA8911776 rs767167541	471	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA401771137 rs1215415724	474	T>R		No	ClinGen gnomAD
rs754350265 CA8911780	476	D>Y		No	ClinGen ExAC gnomAD
rs755497119 CA8911781	477	N>D		No	ClinGen ExAC gnomAD
rs778925236 CA401771159	478	E>K		No	ClinGen ExAC TOPMed gnomAD
rs778925236 CA8911782	478	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA8911783 rs539160044	481	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1418859413 CA401771190	482	L>S		No	ClinGen gnomAD
CA401771196 rs1462922774	483	A>S		No	ClinGen TOPMed
rs758361687 CA8911784	483	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1207229628 CA401771202	484	E>A		No	ClinGen gnomAD
CA8911802 rs758592012	485	I>T		No	ClinGen ExAC gnomAD
rs777980760 CA8911803	486	E>A		No	ClinGen ExAC gnomAD
rs1396754360 CA401771890	486	E>D		No	ClinGen TOPMed
rs1598819326 CA401771895	487	A>V		No	ClinGen Ensembl
rs1567902189 CA401771927	491	M>I		No	ClinGen Ensembl
rs1434679825 CA401771936	492	N>K		No	ClinGen TOPMed
rs760080932 CA297040351	493	E>K		No	ClinGen TOPMed
CA401771938 rs760080932	493	E>Q		No	ClinGen TOPMed
CA401771962 rs374569673	496	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8911808 rs374569673	496	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8911809 rs749119170	497	Q>P		No	ClinGen ExAC gnomAD
CA401771969 rs749119170	497	Q>R		No	ClinGen ExAC gnomAD
CA8911810 rs768283222	500	G>R		No	ClinGen ExAC gnomAD
rs1273141459 CA401771996	501	R>K		No	ClinGen gnomAD
rs1273141459 CA401771997	501	R>T		No	ClinGen gnomAD
CA297040369 rs562961852	503	A>P		No	ClinGen ExAC gnomAD
CA8911811 rs562961852	503	A>T		No	ClinGen ExAC gnomAD
CA401772072 rs1235016002	512	D>A		No	ClinGen gnomAD
CA8911812 rs748001369	512	D>N		No	ClinGen ExAC gnomAD
rs1179576364 CA401772082	513	P>L		No	ClinGen TOPMed
rs772694647 CA8911814	514	P>L		No	ClinGen ExAC gnomAD
rs772694647 CA8911815	514	P>R		No	ClinGen ExAC gnomAD
CA8911816 rs193204666	515	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1164894124 CA401772092	516	L>V		No	ClinGen gnomAD
rs765490579 CA8911819	517	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1567902294 CA401772116	519	E>A		No	ClinGen Ensembl

No associated diseases with O14730

2 regional properties for O14730

Type	Name	Position	InterPro Accession
domain	RIO kinase	222 - 470	IPR000687
conserved_site	RIO kinase, conserved site	402 - 413	IPR018935

Functions

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

2 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
preribosome, small subunit precursor	A preribosomal complex consisting of 20S pre-rRNA, ribosomal proteins including late-associating small subunit proteins, and associated proteins; a precursor of the eukaryotic cytoplasmic small ribosomal subunit.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
caspase binding	Binding to a caspase family protein.
metal ion binding	Binding to a metal ion.
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.

13 GO annotations of biological process

Name	Definition
cellular response to dsDNA	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a double-stranded DNA stimulus.
cellular response to dsRNA	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a double-stranded RNA stimulus.
cellular response to virus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus.
chromosome segregation	The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles.
defense response to virus	Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
maturation of SSU-rRNA	Any process involved in the maturation of a precursor Small SubUnit (SSU) ribosomal RNA (rRNA) molecule into a mature SSU-rRNA molecule.
negative regulation of I-kappaB kinase/NF-kappaB signaling	Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling.
negative regulation of MDA-5 signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the series of the MDA-5 signaling pathway.
negative regulation of protein-containing complex assembly	Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly.
positive regulation of innate immune response	Any process that activates or increases the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection.
positive regulation of interferon-beta production	Any process that activates or increases the frequency, rate, or extent of interferon-beta production.
protein phosphorylation	The process of introducing a phosphate group on to a protein.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9BRS2	RIOK1	Serine/threonine-protein kinase RIO1	Homo sapiens (Human)	PR

10	20	30	40	50	60
MDLVGVASPE	PGTAAAWGPS	KCPWAIPQNT	ISCSLADVMS	EQLAKELQLE	EEAAVFPEVA
70	80	90	100	110	120
VAEGPFITGE	NIDTSSDLML	AQMLQMEYDR	EYDAQLRREE	KKFNGDSKVS	ISFENYRKVH
130	140	150	160	170	180
PYEDSDSSED	EVDWQDTRDD	PYRPAKPVPT	PKKGFIGKGK	DITTKHDEVV	CGRKNTARME
190	200	210	220	230	240
NFAPEFQVGD	GIGMDLKLSN	HVFNALKQHA	YSEERRSARL	HEKKEHSTAE	KAVDPKTRLL
250	260	270	280	290	300
MYKMVNSGML	ETITGCISTG	KESVVFHAYG	GSMEDEKEDS	KVIPTECAIK	VFKTTLNEFK
310	320	330	340	350	360
NRDKYIKDDF	RFKDRFSKLN	PRKIIRMWAE	KEMHNLARMQ	RAGIPCPTVV	LLKKHILVMS
370	380	390	400	410	420
FIGHDQVPAP	KLKEVKLNSE	EMKEAYYQTL	HLMRQLYHEC	TLVHADLSEY	NMLWHAGKVW
430	440	450	460	470	480
LIDVSQSVEP	THPHGLEFLF	RDCRNVSQFF	QKGGVKEALS	ERELFNAVSG	LNITADNEAD
490	500	510
FLAEIEALEK	MNEDHVQKNG	RKAASFLKDD	GDPPLLYDE