AiPD: Autoinhibited Protein Database

Q6PHR2

Gene name	ULK3
Protein name	Serine/threonine-protein kinase ULK3
Names	Unc-51-like kinase 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:25989
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)

299-368 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

299-368 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

156-178 (Activation loop from InterPro)

Target domain	14-270 (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

4 structures for Q6PHR2

Entry ID	Method	Resolution	Chain	Position	Source
4WZX	X-ray	139 A	A	359-449	PDB
6FDY	X-ray	170 A	U	2-277	PDB
6FDZ	X-ray	255 A	U	2-277	PDB
AF-Q6PHR2-F1	Predicted				AlphaFoldDB

455 variants for Q6PHR2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA393184632 rs1328694082	2	A>V		No	ClinGen gnomAD
CA272823305 rs775193627	3	G>R		No	ClinGen ExAC gnomAD
rs1006591456 CA272823300	3	G>V		No	ClinGen TOPMed gnomAD
CA7661897 rs775193627	3	G>W		No	ClinGen ExAC gnomAD
rs1189054695 CA393184618	4	P>L		No	ClinGen TOPMed gnomAD
rs1435549339 CA393184622	4	P>S		No	ClinGen gnomAD
rs1435549339 CA393184625	4	P>T		No	ClinGen gnomAD
rs1289505677 CA393184612	5	G>D		No	ClinGen TOPMed
CA272823293 rs1002540106	5	G>S		No	ClinGen TOPMed gnomAD
rs1166227637 CA393184596	6	W>C		No	ClinGen gnomAD
rs904230171 CA272823284	8	P>L		No	ClinGen TOPMed
rs904230171 CA272823287	8	P>R		No	ClinGen TOPMed
CA7661896 rs764806826	8	P>S		No	ClinGen ExAC TOPMed gnomAD
rs764806826 CA393184582	8	P>T		No	ClinGen ExAC TOPMed gnomAD
CA393184571 rs1179716185	9	P>L		No	ClinGen TOPMed gnomAD
CA393184572 rs1179716185	9	P>R		No	ClinGen TOPMed gnomAD
CA393184562 rs1243794262	10	R>H		No	ClinGen TOPMed gnomAD
rs1243794262 CA393184561	10	R>L		No	ClinGen TOPMed gnomAD
CA393184515 rs1463601394	15	I>F		No	ClinGen TOPMed
CA272823279 rs867999368	16	L>P		No	ClinGen Ensembl
rs1485789469 CA393184491	17	T>I		No	ClinGen TOPMed gnomAD
rs1485789469 CA393184494	17	T>S		No	ClinGen TOPMed gnomAD
rs1212624113 CA393184496	17	T>S		No	ClinGen gnomAD
rs1305383527 CA393184469	19	R>L		No	ClinGen TOPMed
rs1244639948 CA393184445	22	S>N		No	ClinGen gnomAD
CA393184425 rs1315141353	24	T>M		No	ClinGen gnomAD
rs1354011103 CA393184430	24	T>S		No	ClinGen gnomAD
rs1415700996 CA393184424	25	Y>H		No	ClinGen gnomAD
rs1338949418 CA393184404	26	A>G		No	ClinGen TOPMed
rs373520078 CA272823271	27	T>M		No	ClinGen gnomAD
rs748626370 CA7661892	28	V>M		No	ClinGen ExAC TOPMed gnomAD
CA393184341 rs1189778602	32	Y>F		No	ClinGen gnomAD
rs1415479558 CA393184348	32	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1231960202 CA393184321	34	K>T		No	ClinGen gnomAD
rs771279159 CA7661845	35	K>R		No	ClinGen ExAC gnomAD
TCGA novel	36	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1308737170 CA393183639	37	T>I		No	ClinGen gnomAD
rs1474789240 CA393183637	38	R>C		No	ClinGen TOPMed
CA7661843 rs747043150	39	E>K		No	ClinGen ExAC
CA393183603 rs1186653165	41	V>A		No	ClinGen TOPMed
CA7661842 rs778016678	41	V>L		No	ClinGen ExAC gnomAD
CA7661841 rs201366940	43	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7661840 rs201366940	43	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201933449 CA7661839	44	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs753638067 CA7661837	45	C>R		No	ClinGen ExAC gnomAD
TCGA novel	45	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	49	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA272822852 rs779643358	50	S>C		No	ClinGen ExAC TOPMed gnomAD
CA7661836 rs779643358	50	S>R		No	ClinGen ExAC TOPMed gnomAD
rs755787514 CA7661835	51	L>P		No	ClinGen ExAC
CA393183456 rs1324499763	54	A>T		No	ClinGen gnomAD
rs1391958563 CA393183424	57	E>G		No	ClinGen gnomAD
rs968494066 CA272822846	61	T>M		No	ClinGen Ensembl
CA393183364 rs1596405503	63	I>L		No	ClinGen Ensembl
rs1316487649 CA393183361	63	I>T		No	ClinGen TOPMed
CA393183327 rs1159430697	66	L>P		No	ClinGen gnomAD
rs376449701 CA272822843	66	L>V		No	ClinGen ESP
rs753131200 CA7661831	67	K>E		No	ClinGen ExAC gnomAD
rs765787159 CA7661830	68	G>S		No	ClinGen ExAC gnomAD
CA7661828 rs777163154	70	R>P		No	ClinGen ExAC gnomAD
CA7661829 rs777163154	70	R>Q		No	ClinGen ExAC gnomAD
CA7661827 rs574590151	71	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1029869289 CA272822824	72	P>A		No	ClinGen TOPMed gnomAD
rs760955102 CA7661826	72	P>L		No	ClinGen ExAC gnomAD
rs1029869289 CA272822823	72	P>S		No	ClinGen TOPMed gnomAD
CA393183235 rs1262158060	74	I>T		No	ClinGen gnomAD
rs773606277 CA7661825	76	Q>R		No	ClinGen ExAC
rs748276010 CA7661823	80	F>L		No	ClinGen ExAC gnomAD
CA7661824 rs553191866	80	F>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	81	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	82	W>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1379152119 CA393183048	83	D>Y		No	ClinGen TOPMed gnomAD
rs761762586 CA7661806	84	S>G		No	ClinGen ExAC TOPMed gnomAD
CA7661805 rs200940651	86	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393182966 rs1401453917	88	Y>S		No	ClinGen TOPMed
rs374832625 CA7661804	89	L>F		No	ClinGen ESP ExAC gnomAD
CA393182853 rs775473939	95	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775473939 CA7661802	95	A>T		No	ClinGen ExAC TOPMed gnomAD
CA393182841 rs1373884728	96	G>R		No	ClinGen gnomAD
CA7661800 rs745675092	96	G>V		No	ClinGen ExAC TOPMed
rs1314928099 CA393182821	97	G>D		No	ClinGen gnomAD
CA7661798 rs756965149	98	D>N		No	ClinGen ExAC gnomAD
TCGA novel	98	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA272822733 rs762347020	101	R>C		No	ClinGen ExAC TOPMed gnomAD
rs762347020 CA7661795	101	R>G		No	ClinGen ExAC TOPMed gnomAD
RCV000957324 CA7661793 rs34945944 VAR_057113	101	R>H		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA272822732 rs34945944	101	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7661794 rs34945944	101	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393182774 rs762347020	101	R>S		No	ClinGen ExAC TOPMed gnomAD
CA7661792 rs756483238	103	I>V		No	ClinGen ExAC gnomAD
CA393182723 rs1202552122	104	H>R		No	ClinGen TOPMed
rs552363904 CA272822718	106	R>C		No	ClinGen gnomAD
rs767589876 CA7661790	106	R>H		No	ClinGen ExAC TOPMed
rs767589876 CA7661789	106	R>L		No	ClinGen ExAC TOPMed
CA393182685 rs1442540917	107	R>G		No	ClinGen gnomAD
rs762074573 CA7661787	108	I>F		No	ClinGen ExAC gnomAD
rs1179603540 CA393182640	110	P>S		No	ClinGen TOPMed
rs199761061 CA7661786	111	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1596404655 CA393182618	112	K>E		No	ClinGen Ensembl
CA7661785 rs764157420	112	K>N		No	ClinGen ExAC gnomAD
CA7661784 rs763079887	113	V>M		No	ClinGen ExAC gnomAD
TCGA novel	114	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7661783 rs775347115	114	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1449005838 COSM3377662 CA393182584	115	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA7661781 rs745610262	115	R>H		No	ClinGen ExAC TOPMed gnomAD
rs776506133 CA7661780	119	Q>*		No	ClinGen ExAC gnomAD
CA272822402 rs779997725	123	S>N		No	ClinGen Ensembl
CA7661754 rs186124058	124	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA272822390 rs975537673	126	Q>R		No	ClinGen TOPMed
rs757585661 CA7661752	127	F>Y		No	ClinGen ExAC
rs751874021 CA7661751	129	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs777930516 CA7661750	130	E>Q		No	ClinGen ExAC gnomAD
CA7661749 rs376891777	131	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA393182221 rs1440689355 COSM195784	131	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA7661747 rs373962190	132	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA393182204 rs115078393	132	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7661746 rs115078393	132	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7661745 rs753797237	133	I>L		No	ClinGen ExAC
TCGA novel	134	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760480569 CA393182172	134	S>C		No	ClinGen ExAC TOPMed gnomAD
rs760480569 CA7661743	134	S>F		No	ClinGen ExAC TOPMed gnomAD
CA393182140 rs1370903476	136	L>Q		No	ClinGen TOPMed
rs773166781 CA7661742	137	D>H		No	ClinGen ExAC gnomAD
rs773166781 CA393182135	137	D>Y		No	ClinGen ExAC gnomAD
rs772045354 CA7661741	138	L>P		No	ClinGen ExAC gnomAD
rs761527775 CA7661740	140	P>S		No	ClinGen ExAC gnomAD
rs768201145 CA7661738	141	Q>E		No	ClinGen ExAC gnomAD
CA393182031 rs1485771915	143	I>V		No	ClinGen gnomAD
CA7661736 rs375222238	147	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA272822316 rs934516418	148	L>V		No	ClinGen gnomAD
CA393181956 rs1208821638	150	K>R		No	ClinGen gnomAD
CA272822312 rs372826454	152	H>Q		No	ClinGen ESP
CA393181936 rs1313984667	152	H>Y		No	ClinGen TOPMed gnomAD
CA7661735 rs771371851	153	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7661734 rs747324005	156	A>V		No	ClinGen ExAC TOPMed gnomAD
CA393181540 rs1425767859	157	D>E		No	ClinGen gnomAD
rs748522198 CA7661714	159	G>S		No	ClinGen ExAC gnomAD
CA393181520 rs1277034245	160	F>C		No	ClinGen gnomAD
COSM1374574 CA393181517 rs1479664335	161	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA393181513 rs1236308155	161	A>V		No	ClinGen gnomAD
CA393181503 rs1200408817	163	H>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA393181492 rs1360560604	164	M>T		No	ClinGen TOPMed gnomAD
rs755181235 CA7661712	164	M>V		No	ClinGen ExAC TOPMed gnomAD
CA393181482 rs1323588802	165	S>F		No	ClinGen TOPMed
rs368307518 CA7661710	166	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1242244775 CA393181479	166	P>S		No	ClinGen gnomAD
TCGA novel	167	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	167	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	172	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7661706 rs370621400	173	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751430028 CA7661705	174	R>C		No	ClinGen ExAC gnomAD
rs1394280106 CA393181422	174	R>H		No	ClinGen TOPMed gnomAD
rs763752023 CA7661704	176	S>F		No	ClinGen ExAC gnomAD
CA393181407 rs1269487902	177	P>A		No	ClinGen TOPMed
rs1369281509 CA393181405	177	P>H		No	ClinGen gnomAD
CA393181401 rs759102107	178	L>F		No	ClinGen ExAC TOPMed gnomAD
rs759102107 CA7661700	178	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1180499843 COSM964923 CA393181393	179	Y>C	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA393181396 rs1382211641	179	Y>H		No	ClinGen gnomAD
CA7661699 rs772570257	180	M>L		No	ClinGen ExAC TOPMed gnomAD
CA7661698 rs772570257	180	M>V		No	ClinGen ExAC TOPMed gnomAD
rs748465026 CA7661697	182	P>L		No	ClinGen ExAC gnomAD
CA393181345 rs1237842053	186	C>Y		No	ClinGen gnomAD
CA7661695 rs201787599	187	Q>P		No	ClinGen 1000Genomes ExAC
rs780382155 CA7661693	188	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs375326807 CA7661694	188	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7661692 rs769937204	189	Q>E		No	ClinGen ExAC gnomAD
CA393181325 rs1370912755	189	Q>H		No	ClinGen gnomAD
CA7661691 rs745948603	190	Y>F		No	ClinGen ExAC gnomAD
CA7661689 rs757280306	192	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7661687 rs377064776	193	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs377064776 CA7661688	193	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA272821886 rs932862997	193	R>H		No	ClinGen TOPMed gnomAD
CA393181301 rs932862997	193	R>L		No	ClinGen TOPMed gnomAD
CA7661685 rs752274773	194	V>L		No	ClinGen ExAC TOPMed gnomAD
rs752274773 CA393181300	194	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1238322219 CA393181295	195	D>N		No	ClinGen gnomAD
rs764879223 CA7661684	199	M>V		No	ClinGen ExAC gnomAD
rs373362531 CA393181240	202	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA393181231 rs1215517316	204	Y>C		No	ClinGen gnomAD
CA272821860 rs1031730365	204	Y>N		No	ClinGen Ensembl
rs1197270071 CA393181207	206	A>S		No	ClinGen TOPMed gnomAD
CA393181206 rs1197270071	206	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA393181202 rs1466334872	206	A>V		No	ClinGen TOPMed
rs1259095248 CA393181197	207	L>P		No	ClinGen gnomAD
rs1018512142 CA272821770	209	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA272821769 rs374894669	211	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374894669 CA7661657	211	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374894669 CA7661656	211	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770330314 CA272821761	212	P>H		No	ClinGen ExAC TOPMed gnomAD
rs770330314 CA7661655	212	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	212	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	213	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7661653 rs200910015	213	F>L		No	ClinGen ExAC TOPMed
rs1402261743 CA393181136	217	S>L		No	ClinGen TOPMed gnomAD
CA7661650 rs772952582	219	S>L		No	ClinGen ExAC TOPMed gnomAD
rs775377308 CA272821749	222	E>Q		No	ClinGen Ensembl
CA272821746 CA7661648 rs373403457	223	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA393181102 rs1164602431	223	E>K		No	ClinGen gnomAD
rs754838324 CA7661646	226	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA393181081 rs754838324	226	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7661645 rs368958635	226	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA393181078 rs368958635	226	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1239249792 CA393181074	227	S>N		No	ClinGen gnomAD
CA393181060 rs779695455	229	R>G		No	ClinGen ExAC TOPMed gnomAD
CA393181054 rs1292327761	229	R>L		No	ClinGen TOPMed gnomAD
rs1292327761 CA393181057	229	R>Q		No	ClinGen TOPMed gnomAD
COSM964922 rs779695455 CA7661644	229	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7661642 rs749981080	230	V>F		No	ClinGen ExAC TOPMed gnomAD
rs749981080 CA7661643	230	V>I		No	ClinGen ExAC TOPMed gnomAD
CA393181051 rs749981080	230	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1414625848 CA393181043	231	I>V		No	ClinGen gnomAD
rs936156115 CA272821732	232	E>A		No	ClinGen Ensembl
rs758913901 CA7661640	232	E>K		No	ClinGen ExAC gnomAD
CA272821514 rs867235058	233	L>F		No	ClinGen Ensembl
CA393180963 rs1209417557	234	P>A		No	ClinGen TOPMed gnomAD
rs1310372230 CA393180960	234	P>L		No	ClinGen gnomAD
CA393180961 rs1209417557	234	P>S		No	ClinGen TOPMed gnomAD
CA7661620 rs540997889	236	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA272821501 rs1031994903	236	R>Q		No	ClinGen TOPMed gnomAD
rs540997889 CA272821505	236	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393180918 rs372291115	239	L>F		No	ClinGen ESP TOPMed gnomAD
CA272821497 rs372291115	239	L>I		No	ClinGen ESP TOPMed gnomAD
rs1301747011 CA393180911	240	S>P		No	ClinGen gnomAD
CA393180907 rs1445084392	240	S>Y		No	ClinGen gnomAD
CA393180903 rs755326988	241	R>*		No	ClinGen ExAC gnomAD
CA7661618 rs755326988	241	R>G		No	ClinGen ExAC gnomAD
CA7661617 rs754285452	241	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA393180880 rs1173171255	243	C>Y		No	ClinGen gnomAD
rs201900987 CA393180873	244	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377255351 CA7661615	244	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs201900987 CA7661616	244	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA272821480 rs1014434014	245	D>E		No	ClinGen Ensembl
CA393180866 rs1383757819	245	D>Y		No	ClinGen TOPMed
rs773375905 CA7661614	246	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1295145606 CA393180848	247	L>Q		No	ClinGen TOPMed
CA7661613 rs767622357	249	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA272821478 rs1033295403	249	R>W		No	ClinGen TOPMed gnomAD
rs543549739 CA272821475	253	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA7661611 rs774212360	253	R>W		No	ClinGen ExAC gnomAD
CA393180781 rs1596397295	254	D>A		No	ClinGen Ensembl
CA393180769 rs1226151975	255	P>S		No	ClinGen gnomAD
CA393180752 rs1380671815	256	S>R		No	ClinGen gnomAD
CA7661610 rs200157375	257	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM1189067 CA7661609 rs762690955	257	R>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1333795238 CA393180739	258	R>G		No	ClinGen gnomAD
CA7661608 rs775335399	258	R>H		No	ClinGen ExAC TOPMed gnomAD
CA393180734 rs775335399	258	R>L		No	ClinGen ExAC TOPMed gnomAD
CA393180729 rs1368139347	259	I>F		No	ClinGen gnomAD
rs1368139347 CA393180731	259	I>V		No	ClinGen gnomAD
CA393180703 rs769514050 CA7661607	261	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1385917428 CA393180698	262	Q>*		No	ClinGen gnomAD
CA7661604 rs770413594	266	A>P		No	ClinGen ExAC gnomAD
CA393180648 rs770413594	266	A>T		No	ClinGen ExAC gnomAD
CA7661603 rs572752026	266	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755563147 CA393180628	267	H>Q		No	ClinGen ExAC gnomAD
CA393180637 rs1264536152	267	H>Y		No	ClinGen gnomAD
CA393180622 rs1323064071	268	P>R		No	ClinGen gnomAD
CA7661600 rs754444795	268	P>T		No	ClinGen ExAC
CA393180605 rs1238708409	269	W>C		No	ClinGen gnomAD
CA393180597 rs1375345381	270	V>A		No	ClinGen TOPMed gnomAD
rs1392364841 CA393180584	271	D>E		No	ClinGen gnomAD
CA272821456 rs940656695	271	D>Y		No	ClinGen TOPMed gnomAD
rs1596396973 CA393180561	273	E>D		No	ClinGen Ensembl
rs1390424380 CA393180573	273	E>K		No	ClinGen gnomAD
CA393180554 rs1319198571	274	H>R		No	ClinGen TOPMed
CA393180536 rs1292052716	276	P>S		No	ClinGen gnomAD
rs1567236355 CA393180527	277	S>N		No	ClinGen Ensembl
rs1366341458 CA393180531	277	S>R		No	ClinGen gnomAD
CA393180523 rs1158123848	278	G>R		No	ClinGen gnomAD
rs987312092 CA272821455	279	E>D		No	ClinGen TOPMed gnomAD
CA393180502 rs1183866814	281	L>V		No	ClinGen gnomAD
rs186759889 CA7661598	282	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs868379855 CA272821453	282	G>W		No	ClinGen Ensembl
rs1049069646 COSM964921 CA272821449	283	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA393180493 rs538673270	283	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs538673270 CA272821440	283	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7661597 rs538673270	283	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393180490 rs1291978804	284	A>S		No	ClinGen gnomAD
CA393180469 rs1485454421	285	T>I		No	ClinGen TOPMed
CA393180468 rs1441283025	286	A>T		No	ClinGen gnomAD
rs1254719633 CA393180463	286	A>V		No	ClinGen gnomAD
rs1462093161 CA393180451	289	V>M		No	ClinGen gnomAD
rs933227482 CA272821356	291	A>S		No	ClinGen TOPMed gnomAD
rs933227482 CA393180437	291	A>T		No	ClinGen TOPMed gnomAD
rs866164840 TCGA novel CA272821354	293	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
TCGA novel	294	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393180411 rs1270941325	295	D>N		No	ClinGen gnomAD
CA393180402 rs921792792	296	Q>*		No	ClinGen TOPMed gnomAD
CA272821353 rs921792792	296	Q>E		No	ClinGen TOPMed gnomAD
CA272821351 rs994805300	298	G>R		No	ClinGen TOPMed
CA393180385 rs1332171460	298	G>V		No	ClinGen gnomAD
CA272821348 rs994805300	298	G>W		No	ClinGen TOPMed
rs1038886442 CA272821345	299	D>Y		No	ClinGen TOPMed gnomAD
CA7661585 rs746468718	300	S>L		No	ClinGen ExAC gnomAD
CA393180368 rs1463809930	301	A>E		No	ClinGen gnomAD
rs1330430277 CA393180371	301	A>T		No	ClinGen gnomAD
rs868240433 CA272821340	302	A>S		No	ClinGen Ensembl
CA7661583 rs532419385	303	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393180353 rs1567235629	304	L>S		No	ClinGen Ensembl
CA393180346 CA7661582 rs749802390	305	S>*		No	ClinGen ExAC gnomAD
rs1004061279 CA272821334	307	Y>S		No	ClinGen TOPMed
rs370648728 CA7661578	311	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA272821329 rs867924884	313	F>L		No	ClinGen Ensembl
CA393180225 rs1274028653	315	V>L		No	ClinGen gnomAD
CA393180218 rs1209446252	316	P>S		No	ClinGen gnomAD
CA393180198 rs1317248459	317	A>V		No	ClinGen gnomAD
CA393180073 rs1375632528	321	E>D		No	ClinGen TOPMed
CA393180072 rs1284811832	322	V>M		No	ClinGen gnomAD
CA7661561 rs781508639	323	D>G		No	ClinGen ExAC TOPMed gnomAD
CA393180054 rs1321112872	323	D>N		No	ClinGen gnomAD
rs1405166146 CA393180035	324	A>G		No	ClinGen gnomAD
CA393180026 rs1339362924	325	Q>*		No	ClinGen gnomAD
rs747217232 CA7661559	326	R>Q		No	ClinGen ExAC gnomAD
CA7661560 rs757688310	326	R>W		No	ClinGen ExAC TOPMed gnomAD
rs936557943 CA272821209	328	E>D		No	ClinGen Ensembl
CA393179923 rs1281272071	330	I>V		No	ClinGen TOPMed
TCGA novel	333	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747374818 CA7661537	336	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA393178858 rs1311382619	337	Y>H		No	ClinGen gnomAD
rs372870106 CA7661536	338	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA393178808 rs1446562926	340	R>G		No	ClinGen gnomAD
rs748451860 CA7661534	340	R>Q		No	ClinGen ExAC gnomAD
rs1446562926 CA393178805	340	R>W		No	ClinGen gnomAD
CA393178793 rs1462686539	341	A>T		No	ClinGen gnomAD
CA393178786 rs1349452738	342	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1161761293 CA393178715	345	K>N		No	ClinGen gnomAD
CA393178690 rs1348946280	346	A>V		No	ClinGen TOPMed
CA393178657 rs1418334557	348	V>A		No	ClinGen TOPMed gnomAD
CA393178664 rs755151716	348	V>F		No	ClinGen ExAC TOPMed gnomAD
CA7661532 rs755151716	348	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1248132934 CA393178645	349	S>F		No	ClinGen gnomAD
CA393178630 rs1262504708	350	S>F		No	ClinGen gnomAD
rs1195407382 CA393178618	351	S>C		No	ClinGen TOPMed
CA7661531 COSM1478352 rs753772870	352	N>S	Variant assessed as Somatic; 4.749e-05 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs780146425 CA7661530	353	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA272821064 rs920860165	354	A>S		No	ClinGen TOPMed gnomAD
CA272821054 rs780377315	356	L>R		No	ClinGen TOPMed
rs1219659725 CA393178553	357	R>G		No	ClinGen gnomAD
rs1056185078 CA272821039	358	Q>*		No	ClinGen Ensembl
rs755932782 CA7661529	358	Q>R		No	ClinGen ExAC gnomAD
CA393178506 rs1293204723	359	G>E		No	ClinGen gnomAD
rs1596393383 TCGA novel CA393178503	360	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs369507004 CA7661527	361	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs369507004 CA7661528	361	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA393178463 rs1334430400	363	R>*		No	ClinGen gnomAD
rs1334430400 CA393178464	363	R>G		No	ClinGen gnomAD
rs761345444 CA7661526	363	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1191877844	368	E>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1444735697 CA393178302	369	M>I		No	ClinGen gnomAD
TCGA novel	370	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA272820924 rs1022064109	371	R>Q		No	ClinGen TOPMed gnomAD
CA393178275 rs1264526429	371	R>W		No	ClinGen TOPMed gnomAD
rs1010815077 CA393178250	372	D>A		No	ClinGen TOPMed gnomAD
CA7661506 rs751112647	372	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1010815077 CA272820923	372	D>G		No	ClinGen TOPMed gnomAD
rs1461188629 CA393178261	372	D>N		No	ClinGen gnomAD
CA7661505 rs371226370	375	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7661504 rs762326528	375	R>H		No	ClinGen ExAC gnomAD
CA393178139 rs1297709096	379	A>S		No	ClinGen gnomAD
CA393178131 rs1382710494	379	A>V		No	ClinGen TOPMed gnomAD
CA393178122 rs1334463507	380	L>P		No	ClinGen gnomAD
CA393178119 rs1470806703	381	E>K		No	ClinGen gnomAD
rs549882797 CA272820919	382	V>M		No	ClinGen 1000Genomes
rs1406397522 CA393178081	383	A>T		No	ClinGen gnomAD
CA393178069 rs1166924677	384	S>A		No	ClinGen gnomAD
rs1474166676 CA393178062	385	A>T		No	ClinGen gnomAD
CA393178053 rs1374275563	385	A>V		No	ClinGen gnomAD
rs773773590 CA7661500	387	M>I		No	ClinGen ExAC TOPMed gnomAD
rs761140019 CA7661501	387	M>T		No	ClinGen ExAC TOPMed gnomAD
CA393178006 rs1205990154	388	A>G		No	ClinGen gnomAD
CA393178002 rs1205990154	388	A>V		No	ClinGen gnomAD
rs1020832728 CA272820907	389	K>N		No	ClinGen gnomAD
CA393177898 rs1363156813	390	E>G		No	ClinGen TOPMed gnomAD
CA7661483 rs375353064	390	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1166091575 CA393177890	391	E>K		No	ClinGen gnomAD
rs941009587 CA393177850	393	A>S		No	ClinGen gnomAD
CA272820828 rs941009587	393	A>T		No	ClinGen gnomAD
rs754538215 CA7661480	394	G>S		No	ClinGen ExAC TOPMed gnomAD
CA7661478 rs768101238	395	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1489896221 CA393177801	395	G>V		No	ClinGen gnomAD
rs1223226650 CA393177795	396	E>K		No	ClinGen gnomAD
rs1022116235 CA272820796	397	Q>H		No	ClinGen TOPMed
rs1359371798 CA393177719	399	A>S		No	ClinGen TOPMed
CA7661476 rs774756261	399	A>V		No	ClinGen ExAC gnomAD
CA393177706 rs1221889151	400	L>V		No	ClinGen gnomAD
CA393177672 rs1288655508	402	L>Q		No	ClinGen gnomAD
CA272820787 rs868701671	404	Q>K		No	ClinGen Ensembl
CA7661475 rs764406695	404	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs763267807 CA7661474	405	H>D		No	ClinGen ExAC TOPMed gnomAD
CA393177615 rs763267807	405	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1409154600 CA393177547	408	G>E		No	ClinGen gnomAD
CA7661473 rs377101758	408	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA393177521 rs1431646247	409	E>D		No	ClinGen gnomAD
rs1008991958 CA272820778	409	E>Q		No	ClinGen TOPMed gnomAD
TCGA novel	415	A>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867776757 CA272820771	415	A>S		No	ClinGen gnomAD
CA393177411 rs1448589491	415	A>V		No	ClinGen gnomAD
rs374453145 CA7661454	416	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA272820705 rs940847143	417	E>*		No	ClinGen TOPMed
rs1385407531 CA393177325	417	E>D		No	ClinGen gnomAD
CA7661452 rs776746082	418	P>S		No	ClinGen ExAC gnomAD
CA393177322 rs776746082	418	P>T		No	ClinGen ExAC gnomAD
rs746960562 CA7661450	419	P>L		No	ClinGen ExAC TOPMed gnomAD
rs746960562 CA7661451	419	P>R		No	ClinGen ExAC TOPMed gnomAD
CA272820704 rs908135077	419	P>S		No	ClinGen TOPMed gnomAD
rs191974669 CA7661447	421	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7661448 rs773081225	421	R>W		No	ClinGen ExAC TOPMed gnomAD
rs868578087 CA272820699	422	R>M		No	ClinGen Ensembl
rs370060398 CA7661446	423	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1390757564 CA393177249	423	R>W		No	ClinGen TOPMed gnomAD
CA393177241 rs1242098481	424	E>K		No	ClinGen gnomAD
rs796941074 CA393177194	426	L>F		No	ClinGen gnomAD
rs796941074 CA272820692	426	L>I		No	ClinGen gnomAD
CA393177153 rs1244737339	428	T>A		No	ClinGen gnomAD
CA7661445 rs778489335	428	T>I		No	ClinGen ExAC TOPMed gnomAD
CA393177142 rs778489335	428	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1244737339 CA393177150	428	T>S		No	ClinGen gnomAD
CA393177015 rs1596389849	430	V>G		No	ClinGen Ensembl
rs1485137670 CA393177022	430	V>I		No	ClinGen gnomAD
rs769286309 CA7661420	432	N>D		No	ClinGen ExAC gnomAD
rs1281565453 CA393176973	433	L>H		No	ClinGen gnomAD
rs539745300 CA7661418	433	L>I		No	ClinGen 1000Genomes ExAC gnomAD
CA393176966 rs1225471171	434	M>T		No	ClinGen gnomAD
rs1301966184 CA393176957	435	A>D		No	ClinGen gnomAD
rs1331730029 CA393176961	435	A>T		No	ClinGen gnomAD
CA393176951 rs758946690	436	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1382621921 CA393176950	436	R>Q		No	ClinGen TOPMed gnomAD
rs1457539603 CA393176920	439	Y>N		No	ClinGen gnomAD
rs1457352970 CA393176895	440	L>V		No	ClinGen TOPMed
rs779412677 CA393176831 CA7661415	443	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1173790280 CA393176829	444	V>I		No	ClinGen gnomAD
rs773968655 CA7661414	445	K>E		No	ClinGen ExAC TOPMed gnomAD
VAR_059771 rs12898397 CA7661413	445	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	446	M>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393176573 rs1383866865	449	S>F		No	ClinGen gnomAD
TCGA novel	449	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA272820363 rs963290671	450	R>C		No	ClinGen TOPMed gnomAD
CA393176558 rs757346294	450	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7661391 rs757346294	450	R>L		No	ClinGen ExAC TOPMed gnomAD
CA393176562 rs757346294	450	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1363491191 CA393176549	451	W>*		No	ClinGen gnomAD
CA7661390 rs751434583	451	W>*		No	ClinGen ExAC gnomAD
CA393176518 rs1405068087	453	A>T		No	ClinGen gnomAD
CA7661389 rs575375397	454	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs759255958 CA7661385	459	E>G		No	ClinGen ExAC gnomAD
CA7661386 rs765116366	459	E>K		No	ClinGen ExAC gnomAD
CA7661384 rs769848635	462	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	462	S>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs45558033 CA272820342	464	S>F		No	ClinGen Ensembl
rs371058363 CA7661381	466	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs375161483 CA7661380	466	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs371058363 CA7661382	466	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1343164074 CA393176312	468	S>F		No	ClinGen TOPMed
CA393176352 rs1403753704	468	S>P		No	ClinGen gnomAD

No associated diseases with Q6PHR2

5 regional properties for Q6PHR2

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	14 - 270	IPR000719
domain	MIT domain	277 - 354	IPR007330-1
domain	MIT domain	372 - 450	IPR007330-2
active_site	Serine/threonine-protein kinase, active site	133 - 145	IPR008271
binding_site	Protein kinase, ATP binding site	20 - 49	IPR017441

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Cytoplasm	Localizes to pre-autophagosomal structure during cellular senescence
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
autophagosome	A double-membrane-bounded compartment that engulfs endogenous cellular material as well as invading microorganisms to target them to the lytic vacuole/lysosome for degradation as part of macroautophagy.
ciliary tip	Part of the cilium where the axoneme ends. The ciliary tip has been implicated in ciliary assembly and disassembly, as well as signal transduction.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
phagophore assembly site	Punctate structures proximal to the endoplasmic reticulum which are the sites where the Atg machinery assembles upon autophagy induction.

3 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
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
autophagosome organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an autophagosome.
autophagy	The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation.
cellular senescence	A cell aging process stimulated in response to cellular stress, whereby normal cells lose the ability to divide through irreversible cell cycle arrest.
fibroblast activation	A change in the morphology or behavior of a fibroblast resulting from exposure to an activating factor such as a cellular or soluble ligand.
negative regulation of smoothened signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of smoothened signaling.
peptidyl-serine phosphorylation	The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
positive regulation of smoothened signaling pathway	Any process that activates or increases the frequency, rate or extent of smoothened signaling.
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
smoothened signaling pathway	The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9QY01	Ulk2	Serine/threonine-protein kinase ULK2	Mus musculus (Mouse)	PR
Q3U3Q1	Ulk3	Serine/threonine-protein kinase ULK3	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAGPGWGPPR	LDGFILTERL	GSGTYATVYK	AYAKKDTREV	VAIKCVAKKS	LNKASVENLL
70	80	90	100	110	120
TEIEILKGIR	HPHIVQLKDF	QWDSDNIYLI	MEFCAGGDLS	RFIHTRRILP	EKVARVFMQQ
130	140	150	160	170	180
LASALQFLHE	RNISHLDLKP	QNILLSSLEK	PHLKLADFGF	AQHMSPWDEK	HVLRGSPLYM
190	200	210	220	230	240
APEMVCQRQY	DARVDLWSMG	VILYEALFGQ	PPFASRSFSE	LEEKIRSNRV	IELPLRPLLS
250	260	270	280	290	300
RDCRDLLQRL	LERDPSRRIS	FQDFFAHPWV	DLEHMPSGES	LGRATALVVQ	AVKKDQEGDS
310	320	330	340	350	360
AAALSLYCKA	LDFFVPALHY	EVDAQRKEAI	KAKVGQYVSR	AEELKAIVSS	SNQALLRQGT
370	380	390	400	410	420
SARDLLREMA	RDKPRLLAAL	EVASAAMAKE	EAAGGEQDAL	DLYQHSLGEL	LLLLAAEPPG
430	440	450	460	470
RRRELLHTEV	QNLMARAEYL	KEQVKMRESR	WEADTLDKEG	LSESVRSSCT	LQ