AiPD: Autoinhibited Protein Database

Q15418

Gene name	RPS6KA1 (MAPKAPK1A, RSK1)
Protein name	Ribosomal protein S6 kinase alpha-1
Names	S6K-alpha-1, 90 kDa ribosomal protein S6 kinase 1, p90-RSK 1, p90RSK1, p90S6K, MAP kinase-activated protein kinase 1a, MAPK-activated protein kinase 1a, MAPKAP kinase 1a, MAPKAPK-1a, Ribosomal S6 kinase 1, RSK-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6195
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class	RIBOSOMAL PROTEIN S6 KINASE (PTHR24351)

Descriptions

RSK1 plays an important role in many cellular processes. RSK1 is expressed ubiquitously in almost all human tissues, predominantly in kidney, lung and pancreas.The crystal structure of human RSK1 C-terminal kinase domain (CTKD) has been reported. The structure indicates that the autoinhibition of the CTKD is caused by an α-helix occupying the substrate-binding groove.The structure shows autoinhibition of RSK1 CTKD by its αL helix, suggesting that ERK1/2 may activate RSK1 by phosphorylating RSK1 followed by the displacement of αL from its inhibitory position. A similar regulatory mechanism has been observed previously in MAPKAP kinase 2 and murine RSK2 CTKD. The atomic structure of human RSK1 CTKD is of great interest in order to understand the mechanism of RSK activation and for structure-based anticancer-drug development.

Autoinhibitory domains (AIDs)

Target domain	416-706 (Protein kinase domain)
Relief mechanism	PTM
Assay	Structural analysis, Deletion assay

AID

691-706 (αL helix)

Target domain

416-706 (Protein kinase domain)

Relief mechanism

PTM (Phosphorylation at Thr-573 by ERK1/2)

Assay

Structural analysis, Deletion assay

Accessory elements

204-227 (Activation loop from InterPro)

Target domain	66-382 (N-terminal catalytic domain of the Serine/Threonine Kinase, 90 kDa ribosomal protein S6 kinase)
Relief mechanism
Assay

556-579 (Activation loop from InterPro)

Target domain	418-675 (Protein kinase domain)
Relief mechanism
Assay

References

Li D et al. (2012) "Structural basis for the autoinhibition of the C-terminal kinase domain of human RSK1", Acta crystallographica. Section D, Biological crystallography, 68, 680-5

Autoinhibited structure

Activated structure

23 structures for Q15418

Entry ID	Method	Resolution	Chain	Position	Source
2WNT	X-ray	240 A	A/B	413-719	PDB
2Z7Q	X-ray	200 A	A	33-353	PDB
2Z7R	X-ray	200 A	A	33-353	PDB
2Z7S	X-ray	210 A	A	33-353	PDB
3RNY	X-ray	270 A	A/B	411-735	PDB
3TEI	X-ray	240 A	B	712-735	PDB
4H3P	X-ray	230 A	B/E	712-735	PDB
4NIF	X-ray	215 A	A/D	411-735	PDB
5CSF	X-ray	240 A	C	683-735	PDB
5CSI	X-ray	213 A	C	689-735	PDB
5CSJ	X-ray	270 A	C	696-735	PDB
5CSN	X-ray	295 A	C	683-720	PDB
5N7D	X-ray	230 A	C	688-735	PDB
5N7F	X-ray	230 A	C	688-735	PDB
5N7G	X-ray	295 A	C	729-735	PDB
5V61	X-ray	220 A	I	713-729	PDB
5V62	X-ray	190 A	I	713-729	PDB
6TWY	X-ray	230 A	C	725-735	PDB
7P74	X-ray	190 A	B	725-735	PDB
7PC8	X-ray	250 A	C/D	726-735	PDB
7QQL	X-ray	244 A	D/E/F	725-735	PDB
8WF4	X-ray	265 A	A/B	411-735	PDB
AF-Q15418-F1	Predicted				AlphaFoldDB

904 variants for Q15418

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1336231363 CA339139340	7	K>E		No	ClinGen TOPMed
rs1336231363	7	K>E		No	TOPMed
CA339139355 rs1278601658	7	K>N		No	ClinGen gnomAD
rs1278601658	7	K>N		No	gnomAD
rs540275445 CA339139377	8	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs540275445	8	E>D		No	1000Genomes ExAC gnomAD
rs1212321220 CA339139396	9	P>L		No	ClinGen gnomAD
rs1212321220	9	P>L		No	gnomAD
rs1357566028	9	P>S		No	TOPMed
CA339139387 rs1357566028	9	P>S		No	ClinGen TOPMed
rs1414365762 CA339139420	10	W>*		No	ClinGen TOPMed
rs1414365762	10	W>*		No	TOPMed
rs1283279035	10	W>R		No	gnomAD
rs1283279035 CA339139401	10	W>R		No	ClinGen gnomAD
CA705711 rs560501416	11	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560501416	11	P>A		No	1000Genomes ExAC TOPMed gnomAD
rs767179473	11	P>Q		No	ExAC gnomAD
CA339139434 rs767179473	11	P>Q		No	ClinGen ExAC gnomAD
rs767179473	11	P>R		No	ExAC gnomAD
CA705712 rs767179473	11	P>R		No	ClinGen ExAC gnomAD
rs560501416	11	P>S		No	1000Genomes ExAC TOPMed gnomAD
CA339139432 rs560501416	11	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560501416	11	P>T		No	1000Genomes ExAC TOPMed gnomAD
CA339139427 rs560501416	11	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA339139460 rs1476945578	13	M>L		No	ClinGen gnomAD
rs1476945578	13	M>L		No	gnomAD
rs1476945578 CA339139463	13	M>V		No	ClinGen gnomAD
rs1476945578	13	M>V		No	gnomAD
rs1395690586	14	E>*		No	gnomAD
CA339139484 rs1395690586	14	E>*		No	ClinGen gnomAD
rs1220267730	14	E>G		No	TOPMed
rs1220267730 CA339139500	14	E>G		No	ClinGen TOPMed
rs1175540739 CA339139506	15	L>I		No	ClinGen gnomAD
rs1175540739	15	L>I		No	gnomAD
rs1358727405 CA339139513	15	L>P		No	ClinGen gnomAD
rs1358727405	15	L>P		No	gnomAD
CA339139527 rs1419287386	16	V>A		No	ClinGen gnomAD
rs1419287386	16	V>A		No	gnomAD
CA339139518 rs1570412641	16	V>M		No	ClinGen Ensembl
rs1570412641	16	V>M		No	Ensembl
rs775183614	17	P>L		No	ExAC gnomAD
rs775183614 CA705713	17	P>L		No	ClinGen ExAC gnomAD
rs1347299002 CA339139535	17	P>S		No	ClinGen gnomAD
rs1347299002	17	P>S		No	gnomAD
rs1372287339	18	L>M		No	gnomAD
rs1372287339 CA339139547	18	L>M		No	ClinGen gnomAD
CA339139555 rs1237173357	18	L>P		No	ClinGen gnomAD
rs1237173357	18	L>P		No	gnomAD
rs1352385662	19	D>Y		No	gnomAD
CA339139564 rs1352385662	19	D>Y		No	ClinGen gnomAD
rs1223968815 CA339139582	20	P>A		No	ClinGen TOPMed gnomAD
rs1223968815	20	P>A		No	TOPMed gnomAD
rs1223968815 CA339139579	20	P>T		No	ClinGen TOPMed gnomAD
rs1223968815	20	P>T		No	TOPMed gnomAD
rs1449653618	21	E>*		No	gnomAD
rs1449653618 CA339139603	21	E>*		No	ClinGen gnomAD
rs1253410217 CA339139613	21	E>D		No	ClinGen TOPMed gnomAD
rs1253410217	21	E>D		No	TOPMed gnomAD
rs1220472585	21	E>G		No	gnomAD
rs1220472585 CA339139608	21	E>G		No	ClinGen gnomAD
rs765896711	23	G>R		No	ExAC gnomAD
rs765896711 CA705739	23	G>R		No	ClinGen ExAC gnomAD
rs750931090 CA705740	25	T>I		No	ClinGen ExAC gnomAD
rs750931090	25	T>I		No	ExAC gnomAD
CA339140222 rs1383774305	27	G>E		No	ClinGen gnomAD
rs1383774305	27	G>E		No	gnomAD
CA705742 rs763195631	28	E>K		No	ClinGen ExAC TOPMed gnomAD
rs763195631	28	E>K		No	ExAC TOPMed gnomAD
rs766472243 CA705743	29	E>G		No	ClinGen ExAC TOPMed gnomAD
rs766472243	29	E>G		No	ExAC TOPMed gnomAD
rs1557489027	29	E>K		No	Ensembl
rs1557489027 CA339140237	29	E>K		No	ClinGen Ensembl
CA339140256 rs1487624158	30	A>G		No	ClinGen TOPMed
rs1487624158	30	A>G		No	TOPMed
rs751531860	33	Q>*		No	ExAC gnomAD
CA705744 rs751531860	33	Q>*		No	ClinGen ExAC gnomAD
CA705745 rs755231237	33	Q>H		No	ClinGen ExAC gnomAD
rs755231237	33	Q>H		No	ExAC gnomAD
rs1304207065 CA339140285	33	Q>R		No	ClinGen gnomAD
rs1304207065	33	Q>R		No	gnomAD
rs201278235	34	P>L		No	ESP ExAC TOPMed gnomAD
COSM3689552 CA705746 rs201278235	34	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1372944132 CA339150763	37	D>V		No	ClinGen gnomAD
rs1372944132	37	D>V		No	gnomAD
rs1425120261	39	G>D		No	gnomAD
CA339150777 rs1425120261	39	G>D		No	ClinGen gnomAD
CA705831 COSM1341369 rs778579909 COSM907676	40	V>I	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs778579909	40	V>I		No	ExAC TOPMed gnomAD
CA339150785 rs1433686280	41	L>I		No	ClinGen gnomAD
rs1433686280	41	L>I		No	gnomAD
COSM3667508 COSM3667509 rs1379524768 CA339150792	42	K>E	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1379524768	42	K>E		No	TOPMed
rs534936061 CA705832	43	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534936061	43	E>D		No	1000Genomes ExAC TOPMed gnomAD
rs999522455 CA19778874	44	I>L		No	ClinGen Ensembl
rs999522455	44	I>L		No	Ensembl
CA19778881 rs113539136	46	I>V		No	ClinGen Ensembl
rs113539136	46	I>V		No	Ensembl
rs1326899311 CA339150828	47	T>M		No	ClinGen TOPMed gnomAD
rs1326899311	47	T>M		No	TOPMed gnomAD
rs1271274385 CA339150832	48	H>Y		No	ClinGen TOPMed
rs1271274385	48	H>Y		No	TOPMed
rs139078872	50	V>I		No	ESP ExAC TOPMed gnomAD
rs139078872 CA705836	50	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA19778888 rs1023681612	52	A>S		No	ClinGen TOPMed gnomAD
rs1023681612	52	A>S		No	TOPMed gnomAD
rs1456649612	53	G>V		No	TOPMed
rs1456649612 CA339150869	53	G>V		No	ClinGen TOPMed
rs1281398606	60	S>T		No	gnomAD
CA339150912 rs1281398606	60	S>T		No	ClinGen gnomAD
rs1557496091	63	E>K		No	Ensembl
CA339150934 rs1557496091	63	E>K		No	ClinGen Ensembl
rs748223130	68	L>V		No	ExAC gnomAD
rs748223130 CA705838	68	L>V		No	ClinGen ExAC gnomAD
rs1261501328	70	Q>*		No	gnomAD
CA339150980 rs1261501328	70	Q>*		No	ClinGen gnomAD
CA339150994 rs1448044472	72	S>A		No	ClinGen gnomAD
rs1448044472	72	S>A		No	gnomAD
rs769925976 CA705839	75	K>R		No	ClinGen ExAC gnomAD
rs769925976	75	K>R		No	ExAC gnomAD
rs781685878 CA705859	80	R>Q		No	ClinGen ExAC gnomAD
rs781685878	80	R>Q		No	ExAC gnomAD
rs1436266133	80	R>W		No	TOPMed
CA339151057 rs1436266133	80	R>W		No	ClinGen TOPMed
rs1393569081	84	R>Q		No	TOPMed gnomAD
CA339151081 rs1393569081	84	R>Q		No	ClinGen TOPMed gnomAD
rs749505421	84	R>W		No	ExAC gnomAD
rs749505421 CA705863	84	R>W		No	ClinGen ExAC gnomAD
rs771217810	87	S>G		No	ExAC gnomAD
rs771217810 CA705864	87	S>G		No	ClinGen ExAC gnomAD
rs775428408	87	S>I		No	ExAC gnomAD
CA705865 rs775428408	87	S>I		No	ClinGen ExAC gnomAD
rs1215594139 CA339151130	91	Y>*		No	ClinGen gnomAD
rs1215594139	91	Y>*		No	gnomAD
CA339151138 rs1306636477	93	M>V		No	ClinGen gnomAD
rs1306636477	93	M>V		No	gnomAD
rs776600594 CA705868	95	V>L		No	ClinGen ExAC gnomAD
rs776600594	95	V>L		No	ExAC gnomAD
rs761298409	100	T>M		No	ExAC gnomAD
rs761298409 CA705869	100	T>M		No	ClinGen ExAC gnomAD
rs1222994940	103	V>I		No	gnomAD
CA339151204 rs1222994940	103	V>I		No	ClinGen gnomAD
rs762405662	104	R>C		No	ExAC TOPMed gnomAD
CA705889 rs762405662	104	R>C		No	ClinGen ExAC TOPMed gnomAD
CA705890 rs373103051	104	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs373103051	104	R>H		No	ESP ExAC TOPMed gnomAD
CA339151222 rs762405662	104	R>S		No	ClinGen ExAC TOPMed gnomAD
rs762405662	104	R>S		No	ExAC TOPMed gnomAD
rs773957686 CA705891	106	R>C		No	ClinGen ExAC TOPMed gnomAD
rs773957686	106	R>C		No	ExAC TOPMed gnomAD
rs759880800	106	R>H		No	ExAC gnomAD
CA705892 rs759880800	106	R>H		No	ClinGen ExAC gnomAD
rs752945119 CA705894	107	V>F		No	ClinGen ExAC TOPMed gnomAD
rs752945119	107	V>F		No	ExAC TOPMed gnomAD
CA705895 rs752945119	107	V>I		No	ClinGen ExAC TOPMed gnomAD
rs752945119	107	V>I		No	ExAC TOPMed gnomAD
rs757381704	108	R>Q		No	ExAC gnomAD
rs757381704 CA705898	108	R>Q		No	ClinGen ExAC gnomAD
rs764655017	108	R>W		No	ExAC gnomAD
rs764655017 CA705897	108	R>W		No	ClinGen ExAC gnomAD
rs1276592270	109	T>A		No	TOPMed gnomAD
rs1276592270 CA339151246	109	T>A		No	ClinGen TOPMed gnomAD
rs576730887 CA19780147	114	D>N		No	ClinGen 1000Genomes
rs576730887	114	D>N		No	1000Genomes
rs1337752173	118	D>N		No	TOPMed
rs1337752173 CA339151310	118	D>N		No	ClinGen TOPMed
CA19780150 rs894307957	120	N>K		No	ClinGen TOPMed gnomAD
rs894307957	120	N>K		No	TOPMed gnomAD
rs758493321 CA705901	124	V>M		No	ClinGen ExAC gnomAD
rs758493321	124	V>M		No	ExAC gnomAD
rs1189194027	128	H>R		No	gnomAD
CA339151379 rs1189194027	128	H>R		No	ClinGen gnomAD
rs781048606 CA705902	129	Y>C		No	ClinGen ExAC gnomAD
rs781048606	129	Y>C		No	ExAC gnomAD
rs1171851215 CA339151390	130	A>T		No	ClinGen gnomAD
rs1171851215	130	A>T		No	gnomAD
rs1402848844	132	Q>H		No	TOPMed
rs1402848844 CA339151422	132	Q>H		No	ClinGen TOPMed
rs761167430	134	E>K		No	ExAC gnomAD
rs761167430 CA705930	134	E>K		No	ClinGen ExAC gnomAD
rs761167430	134	E>Q		No	ExAC gnomAD
rs761167430 CA705929	134	E>Q		No	ClinGen ExAC gnomAD
rs777077105	138	Y>C		No	ExAC gnomAD
CA705931 rs777077105	138	Y>C		No	ClinGen ExAC gnomAD
rs1570438578	141	L>Q		No	Ensembl
rs1570438578 CA339151478	141	L>Q		No	ClinGen Ensembl
rs1557500160 CA339151504	145	R>C		No	ClinGen Ensembl
rs1557500160	145	R>C		No	Ensembl
rs759436200 CA705934	145	R>H		No	ClinGen ExAC TOPMed gnomAD
rs759436200	145	R>H		No	ExAC TOPMed gnomAD
rs762915479	146	G>D		No	ExAC gnomAD
rs762915479 CA705935	146	G>D		No	ClinGen ExAC gnomAD
rs958394368	147	G>E		No	Ensembl
rs958394368 CA19780227	147	G>E		No	ClinGen Ensembl
rs1557500190 CA339151512	147	G>R		No	ClinGen Ensembl
rs1557500190	147	G>R		No	Ensembl
rs751730501	149	L>V		No	ExAC TOPMed gnomAD
CA705938 rs751730501	149	L>V		No	ClinGen ExAC TOPMed gnomAD
rs753566435 CA705941	151	T>N		No	ClinGen ExAC gnomAD
rs753566435	151	T>N		No	ExAC gnomAD
CA339151538 rs1570438647	151	T>P		No	ClinGen Ensembl
rs1570438647	151	T>P		No	Ensembl
rs547546931 CA705944	152	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547546931	152	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs375857541	152	R>W		No	ESP ExAC TOPMed gnomAD
rs375857541 CA705942	152	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA339151557 rs1353611914	154	S>L		No	ClinGen gnomAD
rs1353611914	154	S>L		No	gnomAD
rs757842544	156	E>G		No	ExAC
CA705945 rs757842544	156	E>G		No	ClinGen ExAC
rs775659702 CA705975	157	V>M		No	ClinGen ExAC TOPMed gnomAD
rs775659702	157	V>M		No	ExAC TOPMed gnomAD
rs1268121145 CA339151612	160	T>M		No	ClinGen gnomAD
rs1268121145	160	T>M		No	gnomAD
rs1189992168	162	E>K		No	gnomAD
CA339151621 rs1189992168	162	E>K		No	ClinGen gnomAD
rs750164804 CA705978	162	E>V		No	ClinGen ExAC TOPMed gnomAD
rs750164804	162	E>V		No	ExAC TOPMed gnomAD
rs754502526	170	E>K		No	ExAC TOPMed gnomAD
CA705982 rs754502526	170	E>K		No	ClinGen ExAC TOPMed gnomAD
CA19780598 rs1003764429	174	G>V		No	ClinGen Ensembl
rs1003764429	174	G>V		No	Ensembl
rs752388723	178	L>P		No	ExAC gnomAD
CA705985 rs752388723	178	L>P		No	ClinGen ExAC gnomAD
CA339151755 rs1275768349	182	G>D		No	ClinGen gnomAD
rs1275768349	182	G>D		No	gnomAD
rs1488358283	186	R>K		No	TOPMed
rs1488358283 CA339151782	186	R>K		No	ClinGen TOPMed
rs1570441244 CA339151789	187	D>A		No	ClinGen Ensembl
rs1570441244	187	D>A		No	Ensembl
rs749627318 CA705988	187	D>H		No	ClinGen ExAC gnomAD
rs749627318	187	D>H		No	ExAC gnomAD
rs919812834	203	L>F		No	TOPMed
CA19780776 rs919812834	203	L>F		No	ClinGen TOPMed
rs750745569 CA706026	207	G>S		No	ClinGen ExAC gnomAD
rs750745569	207	G>S		No	ExAC gnomAD
rs1424911588	213	I>V		No	gnomAD
CA339152995 rs1424911588	213	I>V		No	ClinGen gnomAD
rs575955054 CA706029	216	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs575955054	216	E>D		No	1000Genomes ExAC gnomAD
rs952329099 CA19780886	216	E>K		No	ClinGen gnomAD
rs952329099	216	E>K		No	gnomAD
rs1557503034 CA339153124	218	K>E		No	ClinGen Ensembl
rs1557503034	218	K>E		No	Ensembl
rs873152 CA19780891	221	S>F		No	ClinGen Ensembl
rs873152	221	S>F		No	Ensembl
rs1390137040	224	G>E		No	gnomAD
CA339153272 rs1390137040	224	G>E		No	ClinGen gnomAD
rs1273807884	231	P>S		No	gnomAD
CA339153447 rs1273807884	231	P>S		No	ClinGen gnomAD
rs1367857266	233	V>F		No	gnomAD
CA339153485 rs1367857266	233	V>F		No	ClinGen gnomAD
rs1328434215 CA339153514	234	V>A		No	ClinGen gnomAD
rs1328434215	234	V>A		No	gnomAD
rs141533618 CA706033	234	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141533618	234	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs770078934	235	N>S		No	ExAC TOPMed
CA706034 rs770078934	235	N>S		No	ClinGen ExAC TOPMed
rs774322176 CA706035	236	R>C		No	ClinGen ExAC TOPMed gnomAD
rs774322176	236	R>C		No	ExAC TOPMed gnomAD
rs745611576 CA706036	236	R>H		No	ClinGen ExAC TOPMed gnomAD
rs745611576	236	R>H		No	ExAC TOPMed gnomAD
CA339153540 rs774322176	236	R>S		No	ClinGen ExAC TOPMed gnomAD
rs774322176	236	R>S		No	ExAC TOPMed gnomAD
rs1226017016	241	H>P		No	TOPMed
rs1226017016 CA339153604	241	H>P		No	ClinGen TOPMed
rs1488917029	242	S>C		No	TOPMed gnomAD
CA339153619 rs1488917029	242	S>C		No	ClinGen TOPMed gnomAD
rs1488917029	242	S>G		No	TOPMed gnomAD
CA339153618 rs1488917029	242	S>G		No	ClinGen TOPMed gnomAD
rs775468162 CA706038	243	A>V		No	ClinGen ExAC gnomAD
rs775468162	243	A>V		No	ExAC gnomAD
rs1160479274	248	Y>C		No	gnomAD
CA339153733 rs1160479274	248	Y>C		No	ClinGen gnomAD
rs775946881	249	G>R		No	ExAC gnomAD
CA706041 rs775946881	249	G>R		No	ClinGen ExAC gnomAD
rs1257085466 CA339153795	252	M>T		No	ClinGen gnomAD
rs1257085466	252	M>T		No	gnomAD
CA339153956 rs1484560979	256	L>V		No	ClinGen TOPMed
rs1484560979	256	L>V		No	TOPMed
rs766775987 CA706064	257	T>M		No	ClinGen ExAC TOPMed gnomAD
rs766775987	257	T>M		No	ExAC TOPMed gnomAD
rs1557503682 CA339153988	258	G>D		No	ClinGen Ensembl
rs1557503682	258	G>D		No	Ensembl
rs760124678	266	D>A		No	ExAC gnomAD
CA706066 rs760124678	266	D>A		No	ClinGen ExAC gnomAD
rs767866622 CA706067	267	R>W		No	ClinGen ExAC
rs767866622	267	R>W		No	ExAC
rs1237554716 CA339154161	269	E>D		No	ClinGen gnomAD
rs1237554716	269	E>D		No	gnomAD
CA19781089 rs993524068	271	M>V		No	ClinGen TOPMed gnomAD
rs993524068	271	M>V		No	TOPMed gnomAD
CA339154316 rs768113135	276	K>N		No	ClinGen ExAC TOPMed gnomAD
rs768113135	276	K>N		No	ExAC TOPMed gnomAD
rs760897855 CA339154324	277	A>G		No	ClinGen ExAC TOPMed gnomAD
rs760897855	277	A>G		No	ExAC TOPMed gnomAD
rs753253338	277	A>T		No	ExAC gnomAD
CA706085 rs753253338	277	A>T		No	ClinGen ExAC gnomAD
rs760897855	277	A>V		No	ExAC TOPMed gnomAD
rs760897855 CA706086	277	A>V		No	ClinGen ExAC TOPMed gnomAD
CA339154385 rs1326318098	282	P>L		No	ClinGen gnomAD
rs1326318098	282	P>L		No	gnomAD
rs753904216	282	P>S		No	ExAC gnomAD
CA706088 rs753904216	282	P>S		No	ClinGen ExAC gnomAD
rs1455504810 CA339154391	283	Q>*		No	ClinGen gnomAD
rs1455504810	283	Q>*		No	gnomAD
CA19781191 rs929290974	283	Q>R		No	ClinGen TOPMed gnomAD
rs929290974	283	Q>R		No	TOPMed gnomAD
rs1048155641 CA19781194	284	F>S		No	ClinGen TOPMed
rs1048155641	284	F>S		No	TOPMed
rs1435677331 CA339154427	286	S>C		No	ClinGen TOPMed
rs1435677331	286	S>C		No	TOPMed
CA339154445 rs1264898138	287	T>I		No	ClinGen gnomAD
rs1264898138	287	T>I		No	gnomAD
rs1264898138 CA339154444	287	T>N		No	ClinGen gnomAD
rs1264898138	287	T>N		No	gnomAD
rs138247663	289	A>D		No	1000Genomes ExAC TOPMed gnomAD
rs138247663 CA19781197	289	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs138247663	289	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs138247663 CA706090	289	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1476392435	291	S>G		No	TOPMed
CA339154493 rs1476392435	291	S>G		No	ClinGen TOPMed
rs1199349582	291	S>N		No	gnomAD
CA339154497 rs1199349582	291	S>N		No	ClinGen gnomAD
rs1163395530 CA339154508	292	L>F		No	ClinGen TOPMed
rs1163395530	292	L>F		No	TOPMed
rs1431096559	293	L>S		No	gnomAD
rs1431096559 COSM1341373 CA339154525 COSM1341372	293	L>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs748150049	294	R>W		No	TOPMed gnomAD
CA19781200 rs748150049	294	R>W		No	ClinGen TOPMed gnomAD
rs1471579304 CA339154540	295	A>T		No	ClinGen gnomAD
rs1471579304	295	A>T		No	gnomAD
rs989287324 CA19781203	295	A>V		No	ClinGen TOPMed
rs989287324	295	A>V		No	TOPMed
CA339154562 rs1454425687	297	F>L		No	ClinGen TOPMed gnomAD
rs1454425687	297	F>L		No	TOPMed gnomAD
CA339154578 rs1160351715	298	K>*		No	ClinGen gnomAD
rs1160351715	298	K>*		No	gnomAD
CA339154585 rs1388896895	298	K>N		No	ClinGen gnomAD
rs1388896895	298	K>N		No	gnomAD
rs1304154255 CA339154590	299	R>Q		No	ClinGen gnomAD
rs1304154255	299	R>Q		No	gnomAD
rs1386386265	299	R>W		No	gnomAD
rs1386386265 CA339154587	299	R>W		No	ClinGen gnomAD
CA339154592 rs1347711226	300	N>D		No	ClinGen gnomAD
rs1347711226	300	N>D		No	gnomAD
rs1408541142 CA339154597	300	N>K		No	ClinGen gnomAD
rs1408541142	300	N>K		No	gnomAD
CA19781207 rs1022117679	302	A>P		No	ClinGen TOPMed
rs1022117679	302	A>P		No	TOPMed
rs969236565	302	A>V		No	TOPMed
CA19781210 rs969236565	302	A>V		No	ClinGen TOPMed
rs1288339288	303	N>S		No	gnomAD
CA339154613 rs1288339288	303	N>S		No	ClinGen gnomAD
rs1240617844	304	R>Q		No	gnomAD
rs1240617844 CA339154618	304	R>Q		No	ClinGen gnomAD
rs887794699	304	R>W		No	gnomAD
CA19781212 COSM1224246 rs887794699	304	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1355237114	306	G>C		No	TOPMed gnomAD
CA339154629 rs1355237114	306	G>C		No	ClinGen TOPMed gnomAD
rs1355237114	306	G>R		No	TOPMed gnomAD
CA339154628 rs1355237114	306	G>R		No	ClinGen TOPMed gnomAD
rs1355237114	306	G>S		No	TOPMed gnomAD
CA339154627 rs1355237114	306	G>S		No	ClinGen TOPMed gnomAD
rs750594126	308	G>S		No	ExAC TOPMed gnomAD
CA706108 rs750594126	308	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1390132575	309	P>L		No	TOPMed
rs1390132575 CA339155275	309	P>L		No	ClinGen TOPMed
rs1469778897	310	D>N		No	gnomAD
CA339155281 rs1469778897	310	D>N		No	ClinGen gnomAD
CA339155330 rs1355423491	314	E>K		No	ClinGen TOPMed gnomAD
rs1355423491	314	E>K		No	TOPMed gnomAD
rs752447300 CA706111	317	R>Q		No	ClinGen ExAC gnomAD
rs752447300	317	R>Q		No	ExAC gnomAD
rs767302257 CA706110	317	R>W		No	ClinGen ExAC gnomAD
rs767302257	317	R>W		No	ExAC gnomAD
CA339155397 rs1331131755	319	V>I		No	ClinGen TOPMed
rs1331131755	319	V>I		No	TOPMed
rs1316497356 CA339155429	321	Y>C		No	ClinGen gnomAD
rs1316497356	321	Y>C		No	gnomAD
rs879121946	323	T>A		No	Ensembl
CA19781530 rs879121946	323	T>A		No	ClinGen Ensembl
rs1407828108	324	I>T		No	TOPMed
CA339155464 rs1407828108	324	I>T		No	ClinGen TOPMed
rs1159161155	328	K>N		No	gnomAD
rs1159161155 CA339155703	328	K>N		No	ClinGen gnomAD
rs1346636122 CA339155736	330	Y>C		No	ClinGen gnomAD
rs1346636122	330	Y>C		No	gnomAD
rs896106155	330	Y>H		No	gnomAD
CA19781634 rs896106155	330	Y>H		No	ClinGen gnomAD
CA339155753 rs778291384	331	R>C		No	ClinGen ExAC TOPMed gnomAD
rs778291384	331	R>C		No	ExAC TOPMed gnomAD
rs1292749342	331	R>H		No	TOPMed gnomAD
rs1292749342 CA339155757	331	R>H		No	ClinGen TOPMed gnomAD
rs778291384	331	R>S		No	ExAC TOPMed gnomAD
CA706137 rs778291384	331	R>S		No	ClinGen ExAC TOPMed gnomAD
rs758148586	332	R>C		No	ExAC TOPMed gnomAD
COSM3400645 COSM3400644 CA706139 rs758148586	332	R>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs779820707	332	R>H		No	ExAC TOPMed gnomAD
CA706140 rs779820707	332	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1557505586 CA339155793	333	E>A		No	ClinGen Ensembl
rs1557505586	333	E>A		No	Ensembl
COSM1646126 COSM680182 rs1223331310 CA339155825	334	I>M	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1223331310	334	I>M		No	gnomAD
CA339155838 rs2229712	335	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2229712	335	K>R		No	1000Genomes ESP ExAC TOPMed gnomAD
VAR_021864 rs2229712 CA706141	335	K>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2229712	335	K>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201565442	336	P>L		No	1000Genomes ExAC gnomAD
CA706143 rs201565442	336	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs968243965	336	P>T		No	TOPMed
rs968243965 CA19781647	336	P>T		No	ClinGen TOPMed
CA706145 rs200823090	345	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200823090	345	P>A		No	1000Genomes ExAC TOPMed gnomAD
rs200823090	345	P>T		No	1000Genomes ExAC TOPMed gnomAD
CA706146 rs200823090	345	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA706147 rs763070001	349	F>L		No	ClinGen ExAC gnomAD
rs763070001	349	F>L		No	ExAC gnomAD
CA706149 rs774555630	353	T>N		No	ClinGen ExAC
rs774555630	353	T>N		No	ExAC
rs1218061469	354	E>D		No	gnomAD
rs1218061469 CA339156192	354	E>D		No	ClinGen gnomAD
rs370536932 CA706151	354	E>K		No	ClinGen ESP ExAC gnomAD
rs370536932	354	E>K		No	ESP ExAC gnomAD
rs1397175255	356	T>M		No	TOPMed
rs1397175255 CA339156237	356	T>M		No	ClinGen TOPMed
rs138571702	358	R>C		No	ESP ExAC gnomAD
rs138571702 CA706154	358	R>C		No	ClinGen ESP ExAC gnomAD
rs201153306	358	R>H		No	ExAC TOPMed gnomAD
CA706155 rs201153306	358	R>H		No	ClinGen ExAC TOPMed gnomAD
CA339156281 rs201153306	358	R>P		No	ClinGen ExAC TOPMed gnomAD
rs201153306	358	R>P		No	ExAC TOPMed gnomAD
CA706156 rs372835609	359	T>A		No	ClinGen ExAC TOPMed gnomAD
rs372835609	359	T>A		No	ExAC TOPMed gnomAD
rs779910630 CA706157	361	K>E		No	ClinGen ExAC TOPMed gnomAD
rs779910630	361	K>E		No	ExAC TOPMed gnomAD
rs779910630 CA339156353	361	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs779910630	361	K>Q		No	ExAC TOPMed gnomAD
rs898988612 CA19781678	361	K>R		No	ClinGen gnomAD
rs898988612	361	K>R		No	gnomAD
CA339156360 rs898988612	361	K>T		No	ClinGen gnomAD
rs898988612	361	K>T		No	gnomAD
rs1442777808	362	D>Y		No	gnomAD
CA339156393 rs1442777808	362	D>Y		No	ClinGen gnomAD
rs1186210509	364	P>L		No	gnomAD
CA339157457 rs1186210509	364	P>L		No	ClinGen gnomAD
rs1372143465 CA339157461	365	G>S		No	ClinGen gnomAD
rs1372143465	365	G>S		No	gnomAD
CA19785330 rs138168136	368	P>A		No	ClinGen ESP gnomAD
rs138168136	368	P>A		No	ESP gnomAD
CA706189 rs374505864	368	P>H		No	ClinGen ESP ExAC gnomAD
rs374505864	368	P>H		No	ESP ExAC gnomAD
rs374505864	368	P>R		No	ESP ExAC gnomAD
CA706188 rs374505864	368	P>R		No	ClinGen ESP ExAC gnomAD
rs138168136 CA19785324	368	P>T		No	ClinGen ESP gnomAD
rs138168136	368	P>T		No	ESP gnomAD
CA339157546 rs1277236569	369	S>G		No	ClinGen TOPMed
rs1277236569	369	S>G		No	TOPMed
rs769644246	369	S>T		No	ExAC gnomAD
rs769644246 CA706191	369	S>T		No	ClinGen ExAC gnomAD
rs763011600	370	A>T		No	ExAC TOPMed gnomAD
CA706193 rs763011600	370	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1272249917	373	H>P		No	TOPMed gnomAD
CA339157637 rs1272249917	373	H>P		No	ClinGen TOPMed gnomAD
rs1272249917	373	H>R		No	TOPMed gnomAD
CA339157641 rs1272249917	373	H>R		No	ClinGen TOPMed gnomAD
rs150753331 CA706196	377	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs150753331	377	R>Q		No	ESP ExAC TOPMed gnomAD
rs1263226678 CA339157752	377	R>W		No	ClinGen gnomAD
rs1263226678	377	R>W		No	gnomAD
rs373109074	378	G>D		No	ESP ExAC TOPMed gnomAD
rs373109074 CA706198	378	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1046664782 CA19785351	381	F>L		No	ClinGen TOPMed
rs1046664782	381	F>L		No	TOPMed
rs764528363	382	V>M		No	ExAC TOPMed gnomAD
CA706200 rs764528363	382	V>M		No	ClinGen ExAC TOPMed gnomAD
rs533817888 CA706201	383	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs533817888	383	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs779372663 CA706203	384	T>P		No	ClinGen ExAC TOPMed gnomAD
rs779372663	384	T>P		No	ExAC TOPMed gnomAD
rs140901694	385	G>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs140901694 CA706205	385	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779938369	386	L>P		No	ExAC TOPMed gnomAD
rs779938369 CA706206	386	L>P		No	ClinGen ExAC TOPMed gnomAD
CA19785367 rs966089918	386	L>V		No	ClinGen gnomAD
rs966089918	386	L>V		No	gnomAD
CA339158056 rs1381520867	387	M>T		No	ClinGen TOPMed
rs1381520867	387	M>T		No	TOPMed
rs1320713546 CA339158098	388	E>D		No	ClinGen gnomAD
rs1320713546	388	E>D		No	gnomAD
CA339158109 rs1343956881	389	D>N		No	ClinGen gnomAD
rs1343956881	389	D>N		No	gnomAD
rs768720668	390	D>N		No	ExAC TOPMed gnomAD
CA706208 COSM426003 COSM1473813 rs768720668	390	D>N	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1347913756	390	D>V		No	TOPMed gnomAD
CA339158200 rs1347913756	390	D>V		No	ClinGen TOPMed gnomAD
rs768720668	390	D>Y		No	ExAC TOPMed gnomAD
CA339158160 rs768720668	390	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs749064970	391	G>R		No	ExAC TOPMed gnomAD
rs749064970 CA339158226	391	G>R		No	ClinGen ExAC TOPMed gnomAD
rs749064970	391	G>S		No	ExAC TOPMed gnomAD
rs749064970 CA706210	391	G>S		No	ClinGen ExAC TOPMed gnomAD
rs779751417	394	R>C		No	ExAC gnomAD
COSM1341376 rs779751417 CA706211 COSM1341377	394	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs774428381 CA706212	394	R>H		No	ClinGen ExAC TOPMed gnomAD
rs774428381	394	R>H		No	ExAC TOPMed gnomAD
rs774428381 CA706213	394	R>P		No	ClinGen ExAC TOPMed gnomAD
rs774428381	394	R>P		No	ExAC TOPMed gnomAD
rs767072170 CA706214	395	A>V		No	ClinGen ExAC gnomAD
rs767072170	395	A>V		No	ExAC gnomAD
rs201413022	396	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs201413022 CA706216	396	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200693344	399	P>T		No	ExAC TOPMed gnomAD
rs200693344 CA706218	399	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1008810675	400	L>Q		No	TOPMed
CA19785396 rs1008810675	400	L>Q		No	ClinGen TOPMed
CA339158515 rs1160585138	401	H>N		No	ClinGen TOPMed gnomAD
rs1160585138	401	H>N		No	TOPMed gnomAD
rs1020251061	401	H>R		No	TOPMed
CA19785397 rs1020251061	401	H>R		No	ClinGen TOPMed
rs1160585138	401	H>Y		No	TOPMed gnomAD
CA339158523 rs1160585138	401	H>Y		No	ClinGen TOPMed gnomAD
rs765790037	402	S>L		No	ExAC TOPMed gnomAD
CA706220 rs765790037	402	S>L		No	ClinGen ExAC TOPMed gnomAD
rs758764453	404	V>I		No	ExAC TOPMed gnomAD
CA706222 rs758764453	404	V>I		No	ClinGen ExAC TOPMed gnomAD
rs569625949	405	Q>*		No	gnomAD
rs569625949 CA19785426	405	Q>*		No	ClinGen gnomAD
rs569625949	405	Q>K		No	gnomAD
rs569625949 CA339158612	405	Q>K		No	ClinGen gnomAD
rs1305624028	406	Q>H		No	gnomAD
CA339159692 rs1305624028	406	Q>H		No	ClinGen gnomAD
CA19786349 rs1007574408	406	Q>K		No	ClinGen TOPMed gnomAD
rs1007574408	406	Q>K		No	TOPMed gnomAD
rs776263684	408	H>R		No	ExAC gnomAD
CA706235 rs776263684	408	H>R		No	ClinGen ExAC gnomAD
rs1358900755	409	G>W		No	gnomAD
CA339159758 rs1358900755	409	G>W		No	ClinGen gnomAD
rs1251871241	410	K>N		No	gnomAD
CA339159786 rs1251871241	410	K>N		No	ClinGen gnomAD
CA19786353 rs774525592	411	N>S		No	ClinGen Ensembl
rs774525592	411	N>S		No	Ensembl
rs761395639	413	V>I		No	ExAC gnomAD
CA706236 rs761395639	413	V>I		No	ClinGen ExAC gnomAD
rs761395639	413	V>L		No	ExAC gnomAD
CA339159855 rs761395639	413	V>L		No	ClinGen ExAC gnomAD
rs765589763 CA706237	414	F>S		No	ClinGen ExAC gnomAD
rs765589763	414	F>S		No	ExAC gnomAD
CA339159902 rs1263052344	415	S>G		No	ClinGen TOPMed
rs1263052344	415	S>G		No	TOPMed
rs766769482	417	G>C		No	ExAC gnomAD
CA339159962 rs766769482	417	G>C		No	ClinGen ExAC gnomAD
rs766769482	417	G>S		No	ExAC gnomAD
rs766769482 CA706240	417	G>S		No	ClinGen ExAC gnomAD
CA706241 rs751697343	418	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs751697343	418	Y>C		No	ExAC TOPMed gnomAD
rs373923998	419	V>M		No	ESP ExAC TOPMed gnomAD
CA706243 rs373923998	419	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA339160046 rs1570452181	420	V>G		No	ClinGen Ensembl
rs1570452181	420	V>G		No	Ensembl
rs1374178391	424	I>V		No	gnomAD
CA339160127 rs1374178391	424	I>V		No	ClinGen gnomAD
rs1408418598	426	V>L		No	TOPMed
rs1408418598 CA339160161	426	V>L		No	ClinGen TOPMed
rs893340655	428	S>C		No	TOPMed gnomAD
rs893340655 CA19786406	428	S>C		No	ClinGen TOPMed gnomAD
rs893340655	428	S>F		No	TOPMed gnomAD
rs893340655 CA339160195	428	S>F		No	ClinGen TOPMed gnomAD
rs1557509005	430	S>C		No	Ensembl
rs1557509005 CA339160228	430	S>C		No	ClinGen Ensembl
rs1404635350 CA339160284	434	R>C		No	ClinGen TOPMed gnomAD
rs1404635350	434	R>C		No	TOPMed gnomAD
rs1328908968	434	R>H		No	TOPMed
COSM464361 rs1328908968 COSM1645660 CA339160287	434	R>H	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed
rs778887163	439	A>T		No	ExAC gnomAD
rs778887163 CA706246	439	A>T		No	ClinGen ExAC gnomAD
rs528832165	441	N>K		No	1000Genomes ExAC gnomAD
CA706247 rs528832165	441	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs772096189 CA706248	442	M>V		No	ClinGen ExAC TOPMed gnomAD
rs772096189	442	M>V		No	ExAC TOPMed gnomAD
CA706250 rs746598191	445	A>V		No	ClinGen ExAC gnomAD
rs746598191	445	A>V		No	ExAC gnomAD
rs1234772230 CA339160522	446	V>F		No	ClinGen TOPMed gnomAD
rs1234772230	446	V>F		No	TOPMed gnomAD
rs1234772230	446	V>I		No	TOPMed gnomAD
rs1234772230 CA339160516	446	V>I		No	ClinGen TOPMed gnomAD
rs1263943359	448	V>I		No	TOPMed
COSM95216 rs1263943359 CA339160643	448	V>I	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs922411140	449	I>L		No	Ensembl
rs922411140 CA19786675	449	I>L		No	ClinGen Ensembl
rs764402105	451	K>E		No	ExAC gnomAD
rs764402105 CA706277	451	K>E		No	ClinGen ExAC gnomAD
rs751695878	452	S>R		No	ExAC TOPMed gnomAD
CA706279 rs751695878	452	S>R		No	ClinGen ExAC TOPMed gnomAD
rs757431803 CA706282	454	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs757431803	454	R>Q		No	ExAC TOPMed gnomAD
rs753994848 CA339160756	454	R>W		No	ClinGen ExAC TOPMed gnomAD
rs753994848	454	R>W		No	ExAC TOPMed gnomAD
CA19786751 rs146829384	455	D>H		No	ClinGen ESP TOPMed
rs146829384	455	D>H		No	ESP TOPMed
rs766116930	457	S>L		No	ExAC gnomAD
COSM3804812 CA706283 rs766116930 COSM3804813	457	S>L	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs751305881	465	R>Q		No	ExAC gnomAD
rs751305881 CA706284	465	R>Q		No	ClinGen ExAC gnomAD
rs372558260	465	R>W		No	ESP gnomAD
CA19786771 rs372558260	465	R>W		No	ClinGen ESP gnomAD
rs1308043342	467	G>S		No	gnomAD
rs1308043342 CA339160949	467	G>S		No	ClinGen gnomAD
rs1356088799	468	Q>*		No	gnomAD
CA339160966 rs1356088799	468	Q>*		No	ClinGen gnomAD
CA339160964 rs1356088799	468	Q>E		No	ClinGen gnomAD
rs1356088799	468	Q>E		No	gnomAD
rs1291433970	472	I>V		No	gnomAD
rs1291433970 CA339161035	472	I>V		No	ClinGen gnomAD
rs1402462513	478	V>G		No	gnomAD
rs1402462513 CA339161270	478	V>G		No	ClinGen gnomAD
rs753340490 CA706309	478	V>M		No	ClinGen ExAC gnomAD
rs753340490	478	V>M		No	ExAC gnomAD
rs112552710 CA706312	484	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112552710	484	H>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs887965146	485	V>M		No	TOPMed gnomAD
rs887965146 CA19787213	485	V>M		No	ClinGen TOPMed gnomAD
rs1264356442 CA339161469	486	Y>C		No	ClinGen TOPMed
rs1264356442	486	Y>C		No	TOPMed
rs1457629669 CA339161456	486	Y>H		No	ClinGen gnomAD
rs1457629669	486	Y>H		No	gnomAD
rs1450683191	487	L>M		No	TOPMed gnomAD
CA339161480 rs1450683191	487	L>M		No	ClinGen TOPMed gnomAD
rs369431738	491	L>Q		No	ESP TOPMed gnomAD
rs369431738 CA19787222	491	L>Q		No	ClinGen ESP TOPMed gnomAD
rs780511938 CA706314	493	R>Q		No	ClinGen ExAC gnomAD
rs780511938	493	R>Q		No	ExAC gnomAD
rs535204806	493	R>W		No	ExAC gnomAD
CA706313 rs535204806	493	R>W		No	ClinGen ExAC gnomAD
rs1179623476	495	G>R		No	gnomAD
CA339161614 rs1179623476	495	G>R		No	ClinGen gnomAD
rs138370781	502	L>M		No	ESP ExAC gnomAD
rs138370781 CA706316	502	L>M		No	ClinGen ESP ExAC gnomAD
rs748782890 CA19787286	503	R>Q		No	ClinGen TOPMed gnomAD
rs748782890	503	R>Q		No	TOPMed gnomAD
rs761917461 CA706318	503	R>W		No	ClinGen ExAC TOPMed gnomAD
rs761917461	503	R>W		No	ExAC TOPMed gnomAD
rs769977293	504	Q>E		No	ExAC gnomAD
CA706319 rs769977293	504	Q>E		No	ClinGen ExAC gnomAD
rs1044521627	505	K>N		No	TOPMed
CA19787301 rs1044521627	505	K>N		No	ClinGen TOPMed
CA339161894 rs1164163510	506	F>L		No	ClinGen TOPMed
rs1164163510	506	F>L		No	TOPMed
rs763102864 CA339161970	510	R>P		No	ClinGen ExAC TOPMed gnomAD
rs763102864	510	R>P		No	ExAC TOPMed gnomAD
COSM1341380 COSM1341381 rs763102864 CA706322	510	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs763102864	510	R>Q		No	ExAC TOPMed gnomAD
rs144489369 CA706321	510	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144489369	510	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs199860173	512	A>T		No	1000Genomes
rs199860173 CA19787322	512	A>T		No	ClinGen 1000Genomes
rs1303223375 CA339162154	518	T>I		No	ClinGen TOPMed
rs1303223375	518	T>I		No	TOPMed
rs202075423 CA339162166	519	I>N		No	ClinGen 1000Genomes TOPMed gnomAD
rs202075423	519	I>N		No	1000Genomes TOPMed gnomAD
CA19787333 rs202075423	519	I>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs202075423	519	I>T		No	1000Genomes TOPMed gnomAD
rs543555722	520	G>S		No	TOPMed gnomAD
rs543555722 CA19787334	520	G>S		No	ClinGen TOPMed gnomAD
rs955119610	524	E>G		No	Ensembl
rs955119610 CA19787335	524	E>G		No	ClinGen Ensembl
rs1175760676	528	S>*		No	gnomAD
CA339162360 rs1175760676	528	S>*		No	ClinGen gnomAD
rs760553222	530	G>R		No	ExAC gnomAD
rs760553222 CA706325	530	G>R		No	ClinGen ExAC gnomAD
rs563853328	544	V>A		No	Ensembl
rs563853328 CA19794487	544	V>A		No	ClinGen Ensembl
rs764846874	545	D>N		No	ExAC gnomAD
rs764846874 CA706347	545	D>N		No	ClinGen ExAC gnomAD
rs749900889	546	E>K		No	ExAC TOPMed gnomAD
rs749900889 CA706348	546	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1196773605	547	S>P		No	gnomAD
rs1196773605 CA339166108	547	S>P		No	ClinGen gnomAD
CA706350 rs538433194	548	G>R		No	ClinGen ExAC TOPMed gnomAD
rs538433194	548	G>R		No	ExAC TOPMed gnomAD
CA706351 rs538433194	548	G>W		No	ClinGen ExAC TOPMed gnomAD
rs538433194	548	G>W		No	ExAC TOPMed gnomAD
rs1389215887	551	E>K		No	TOPMed gnomAD
rs1389215887 CA339166160	551	E>K		No	ClinGen TOPMed gnomAD
CA339166182 rs1327553502	552	C>S		No	ClinGen gnomAD
rs1327553502	552	C>S		No	gnomAD
rs756570951	554	R>C		No	ExAC TOPMed gnomAD
rs756570951 CA706355	554	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1312651014	554	R>H		No	TOPMed gnomAD
CA339166211 rs1312651014	554	R>H		No	ClinGen TOPMed gnomAD
CA339166215 rs1312651014	554	R>L		No	ClinGen TOPMed gnomAD
rs1312651014	554	R>L		No	TOPMed gnomAD
CA706356 rs777854480	558	F>C		No	ClinGen ExAC gnomAD
rs777854480	558	F>C		No	ExAC gnomAD
rs750253157	563	Q>*		No	Ensembl
CA19794611 rs750253157	563	Q>*		No	ClinGen Ensembl
rs1191536898 CA339166352	565	R>W		No	ClinGen gnomAD
rs1191536898	565	R>W		No	gnomAD
rs771183368 CA706358	570	L>F		No	ClinGen ExAC gnomAD
rs771183368	570	L>F		No	ExAC gnomAD
rs1557517250	573	T>I		No	Ensembl
rs1557517250 CA339166460	573	T>I		No	ClinGen Ensembl
CA706359 rs774629409	578	A>D		No	ClinGen ExAC gnomAD
rs774629409	578	A>D		No	ExAC gnomAD
CA339166531 rs1180825034	579	N>H		No	ClinGen gnomAD
rs1180825034	579	N>H		No	gnomAD
CA19794636 rs1018767059	580	F>L		No	ClinGen Ensembl
rs1018767059	580	F>L		No	Ensembl
rs746842305	580	F>S		No	ExAC
CA706360 rs746842305	580	F>S		No	ClinGen ExAC
rs1241510409 CA339166575	581	V>M		No	ClinGen TOPMed gnomAD
rs1241510409	581	V>M		No	TOPMed gnomAD
rs768513793 CA339166607	582	A>E		No	ClinGen ExAC TOPMed gnomAD
rs768513793	582	A>E		No	ExAC TOPMed gnomAD
rs768513793 CA706361	582	A>V		No	ClinGen ExAC TOPMed gnomAD
rs768513793	582	A>V		No	ExAC TOPMed gnomAD
rs765241589 CA706364	583	P>S		No	ClinGen ExAC gnomAD
rs765241589	583	P>S		No	ExAC gnomAD
rs764643915 CA706394	588	R>C		No	ClinGen ExAC gnomAD
rs764643915	588	R>C		No	ExAC gnomAD
CA339166874 rs1427911631 COSM1224245	588	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1427911631	588	R>H		No	gnomAD
rs1427911631	588	R>L		No	gnomAD
CA339166870 rs1427911631	588	R>L		No	ClinGen gnomAD
rs1177868872	589	Q>R		No	gnomAD
CA339166909 rs1177868872	589	Q>R		No	ClinGen gnomAD
rs1557517589	592	D>V		No	Ensembl
rs1557517589 CA339166998	592	D>V		No	ClinGen Ensembl
rs1182900783	596	D>N		No	TOPMed
CA339167101 rs1182900783	596	D>N		No	ClinGen TOPMed
rs1011562255	597	I>V		No	gnomAD
CA19795150 rs1011562255	597	I>V		No	ClinGen gnomAD
rs780133281 CA339167210	599	S>I		No	ClinGen ExAC gnomAD
rs780133281	599	S>I		No	ExAC gnomAD
rs780133281	599	S>N		No	ExAC gnomAD
rs780133281 CA706400	599	S>N		No	ClinGen ExAC gnomAD
rs748010024 CA706401	600	L>V		No	ClinGen ExAC TOPMed gnomAD
rs748010024	600	L>V		No	ExAC TOPMed gnomAD
rs143490841	602	I>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs143490841 CA706402	602	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA706403 rs777643463	604	L>P		No	ClinGen ExAC gnomAD
rs777643463	604	L>P		No	ExAC gnomAD
CA706405 rs770722105	606	T>I		No	ClinGen ExAC TOPMed gnomAD
rs770722105	606	T>I		No	ExAC TOPMed gnomAD
rs774919029	611	Y>C		No	ExAC gnomAD
CA706427 rs774919029	611	Y>C		No	ClinGen ExAC gnomAD
rs1283926624	612	T>I		No	gnomAD
CA339167616 rs1283926624	612	T>I		No	ClinGen gnomAD
rs377725709	613	P>S		No	ESP ExAC TOPMed gnomAD
CA706429 rs377725709	613	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs762077088	615	A>T		No	ExAC gnomAD
rs762077088 CA706431	615	A>T		No	ClinGen ExAC gnomAD
rs995643038	617	G>C		No	TOPMed gnomAD
CA19795581 rs995643038	617	G>C		No	ClinGen TOPMed gnomAD
COSM907679 CA339167718 COSM1584366 rs995643038	617	G>S	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs995643038	617	G>S		No	TOPMed gnomAD
rs368086441 CA19795600	619	S>G		No	ClinGen Ensembl
rs368086441	619	S>G		No	Ensembl
rs763447206	620	D>G		No	ExAC gnomAD
rs763447206 CA706434	620	D>G		No	ClinGen ExAC gnomAD
rs112905695 CA19795609	621	T>A		No	ClinGen Ensembl
rs112905695	621	T>A		No	Ensembl
rs1459662671	621	T>I		No	gnomAD
CA339167802 rs1459662671	621	T>I		No	ClinGen gnomAD
rs766596672 CA706435	622	P>R		No	ClinGen ExAC gnomAD
rs766596672	622	P>R		No	ExAC gnomAD
rs1382355923 CA339167810	622	P>S		No	ClinGen TOPMed
rs1382355923	622	P>S		No	TOPMed
rs149093867 CA706436	628	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs149093867	628	R>Q		No	ESP ExAC TOPMed gnomAD
rs1422799331	629	I>M		No	TOPMed gnomAD
rs1422799331 CA339168010	629	I>M		No	ClinGen TOPMed gnomAD
rs201508654	629	I>V		No	1000Genomes ExAC gnomAD
CA706438 rs201508654	629	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1171430365	630	G>D		No	gnomAD
CA339168019 rs1171430365	630	G>D		No	ClinGen gnomAD
rs369721857	630	G>S		No	ESP ExAC TOPMed gnomAD
rs369721857 CA706439	630	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA706441 rs778712750	635	T>A		No	ClinGen ExAC gnomAD
rs778712750	635	T>A		No	ExAC gnomAD
rs1019841392 CA339168169	636	L>F		No	ClinGen TOPMed gnomAD
rs1019841392	636	L>F		No	TOPMed gnomAD
CA19795705 rs1019841392	636	L>V		No	ClinGen TOPMed gnomAD
rs1019841392	636	L>V		No	TOPMed gnomAD
rs1298445450	638	G>R		No	gnomAD
rs1298445450 CA339168206	638	G>R		No	ClinGen gnomAD
CA706443 rs745798497	639	G>E		No	ClinGen ExAC gnomAD
rs745798497	639	G>E		No	ExAC gnomAD
rs1486225212 CA339168281	642	N>S		No	ClinGen TOPMed
rs1486225212	642	N>S		No	TOPMed
rs1340418455	646	E>D		No	gnomAD
CA339168371 rs1340418455	646	E>D		No	ClinGen gnomAD
rs779938878	653	S>F		No	ExAC gnomAD
rs779938878 CA706465	653	S>F		No	ClinGen ExAC gnomAD
rs1266669401 CA339169320	654	K>R		No	ClinGen TOPMed gnomAD
rs1266669401	654	K>R		No	TOPMed gnomAD
CA706466 rs751125853	655	M>L		No	ClinGen ExAC gnomAD
rs751125853	655	M>L		No	ExAC gnomAD
rs780609834	658	V>M		No	ExAC TOPMed gnomAD
rs780609834 CA706468	658	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1157234373 CA339169378	659	D>Y		No	ClinGen gnomAD
rs1157234373	659	D>Y		No	gnomAD
CA706469 rs368282746	660	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs368282746	660	P>R		No	ESP ExAC TOPMed gnomAD
rs769437929	663	R>C		No	ExAC TOPMed gnomAD
rs769437929 CA706470	663	R>C		No	ClinGen ExAC TOPMed gnomAD
CA339169427 rs778048097	663	R>H		No	ClinGen ExAC TOPMed gnomAD
rs778048097	663	R>H		No	ExAC TOPMed gnomAD
rs778048097	663	R>P		No	ExAC TOPMed gnomAD
CA706471 rs778048097	663	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1385761210	664	L>F		No	TOPMed gnomAD
CA339169431 rs1385761210	664	L>F		No	ClinGen TOPMed gnomAD
rs749631549 CA706472	669	V>F		No	ClinGen ExAC gnomAD
rs749631549	669	V>F		No	ExAC gnomAD
CA706473 rs771632302	671	Q>H		No	ClinGen ExAC gnomAD
rs771632302	671	Q>H		No	ExAC gnomAD
rs774988036	672	H>Y		No	ExAC gnomAD
CA706474 rs774988036	672	H>Y		No	ClinGen ExAC gnomAD
rs760064215	675	V>I		No	ExAC TOPMed gnomAD
CA706475 rs760064215	675	V>I		No	ClinGen ExAC TOPMed gnomAD
CA706477 rs775600827	676	T>A		No	ClinGen ExAC
rs775600827	676	T>A		No	ExAC
rs1355505330	680	K>R		No	gnomAD
CA339169817 rs1355505330	680	K>R		No	ClinGen gnomAD
CA339169885 rs1209342166	683	Q>E		No	ClinGen gnomAD
rs1209342166	683	Q>E		No	gnomAD
CA339169929 rs1156504247	684	S>T		No	ClinGen gnomAD
rs1156504247	684	S>T		No	gnomAD
rs918527886	687	S>F		No	TOPMed
CA19796881 rs918527886	687	S>F		No	ClinGen TOPMed
CA339170138 rs1440739807	693	L>F		No	ClinGen gnomAD
rs1440739807	693	L>F		No	gnomAD
CA706480 rs764359092	693	L>P		No	ClinGen ExAC gnomAD
rs764359092	693	L>P		No	ExAC gnomAD
CA339170151 rs1351556822	694	V>M		No	ClinGen Ensembl
rs1351556822	694	V>M		No	Ensembl
rs776922261 CA706501	696	G>E		No	ClinGen ExAC TOPMed gnomAD
rs776922261	696	G>E		No	ExAC TOPMed gnomAD
rs1169296919	696	G>R		No	gnomAD
CA339170396 rs1169296919	696	G>R		No	ClinGen gnomAD
CA706502 rs761951863	697	A>S		No	ClinGen ExAC gnomAD
rs761951863	697	A>S		No	ExAC gnomAD
rs1300709842	698	M>T		No	gnomAD
rs1300709842 CA339170453	698	M>T		No	ClinGen gnomAD
rs1181574632	698	M>V		No	TOPMed
rs1181574632 CA339170442	698	M>V		No	ClinGen TOPMed
rs367842246 CA706503	701	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs367842246	701	T>M		No	ESP ExAC TOPMed gnomAD
rs767456589 CA19797483	704	A>P		No	ClinGen ExAC TOPMed gnomAD
rs767456589	704	A>P		No	ExAC TOPMed gnomAD
CA706506 rs767456589 COSM277119	704	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs767456589	704	A>T		No	ExAC TOPMed gnomAD
rs1277578498	705	L>F		No	gnomAD
rs1277578498 CA339170569	705	L>F		No	ClinGen gnomAD
rs755636493 CA706508	706	N>S		No	ClinGen ExAC TOPMed gnomAD
rs755636493	706	N>S		No	ExAC TOPMed gnomAD
CA706509 rs763455950	707	S>R		No	ClinGen ExAC gnomAD
rs763455950	707	S>R		No	ExAC gnomAD
rs753545251	707	S>T		No	ExAC gnomAD
rs753545251 CA706510	707	S>T		No	ClinGen ExAC gnomAD
rs1483158021 CA339170661	708	S>A		No	ClinGen gnomAD
rs1483158021	708	S>A		No	gnomAD
rs1201358764	709	K>T		No	gnomAD
rs1201358764 CA339170674	709	K>T		No	ClinGen gnomAD
rs1570469675	710	P>T		No	Ensembl
CA339170683 rs1570469675	710	P>T		No	ClinGen Ensembl
CA706512 rs756931289	711	T>N		No	ClinGen ExAC gnomAD
rs756931289	711	T>N		No	ExAC gnomAD
rs1570469682	711	T>P		No	Ensembl
rs1570469682 CA339170709	711	T>P		No	ClinGen Ensembl
rs779444095 CA706513	712	P>R		No	ClinGen ExAC TOPMed gnomAD
rs779444095	712	P>R		No	ExAC TOPMed gnomAD
CA19797517 rs922297352	712	P>T		No	ClinGen Ensembl
rs922297352	712	P>T		No	Ensembl
CA339170732 rs559733751	713	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs559733751	713	Q>*		No	ExAC TOPMed gnomAD
rs559733751	713	Q>E		No	ExAC TOPMed gnomAD
rs559733751 CA706517	713	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs559733751 CA706516	713	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs559733751	713	Q>K		No	ExAC TOPMed gnomAD
rs768781742 CA706519	714	L>V		No	ClinGen ExAC gnomAD
rs768781742	714	L>V		No	ExAC gnomAD
rs748389071	715	K>N		No	ExAC gnomAD
CA706520 rs748389071	715	K>N		No	ClinGen ExAC gnomAD
rs529084159	718	E>K		No	1000Genomes ExAC TOPMed gnomAD
CA706522 rs529084159	718	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529084159	718	E>Q		No	1000Genomes ExAC TOPMed gnomAD
rs529084159 CA339170838	718	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775512830	725	R>L		No	ExAC gnomAD
rs775512830 CA339171023	725	R>L		No	ClinGen ExAC gnomAD
rs775512830 CA706525	725	R>Q		No	ClinGen ExAC gnomAD
rs775512830	725	R>Q		No	ExAC gnomAD
rs767412087	725	R>W		No	ExAC gnomAD
rs767412087 CA706524 COSM1224244	725	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1299522537	726	R>Q		No	gnomAD
rs1299522537 CA339171031	726	R>Q		No	ClinGen gnomAD
rs763692710	728	R>K		No	ExAC TOPMed gnomAD
rs763692710 CA706527	728	R>K		No	ClinGen ExAC TOPMed gnomAD
CA339171159 rs757022971	731	P>L		No	ClinGen ExAC gnomAD
rs757022971	731	P>L		No	ExAC gnomAD
CA706529 rs757022971	731	P>Q		No	ClinGen ExAC gnomAD
rs757022971	731	P>Q		No	ExAC gnomAD
rs753351089	731	P>S		No	ExAC gnomAD
CA706528 rs753351089	731	P>S		No	ClinGen ExAC gnomAD

No associated diseases with Q15418

13 regional properties for Q15418

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	634 - 895	IPR000719
domain	Ephrin receptor ligand binding domain	30 - 208	IPR001090
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	634 - 891	IPR001245
conserved_site	Tyrosine-protein kinase, receptor class V, conserved site	184 - 204	IPR001426-1
conserved_site	Tyrosine-protein kinase, receptor class V, conserved site	246 - 266	IPR001426-2
domain	Sterile alpha motif domain	926 - 993	IPR001660
domain	Fibronectin type III	327 - 437	IPR003961-1
domain	Fibronectin type III	438 - 533	IPR003961-2
active_site	Tyrosine-protein kinase, active site	755 - 767	IPR008266
binding_site	Protein kinase, ATP binding site	640 - 666	IPR017441
domain	Tyrosine-protein kinase, catalytic domain	634 - 891	IPR020635
domain	Ephrin receptor, transmembrane domain	542 - 631	IPR027936
domain	Ephrin type-A receptor 8, ligand binding domain	30 - 202	IPR034287

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Nucleus Cytoplasm
PANTHER Family	PTHR24351	RIBOSOMAL PROTEIN S6 KINASE
PANTHER Subfamily	PTHR24351:SF43	RIBOSOMAL PROTEIN S6 KINASE ALPHA-1
PANTHER Protein Class	protein modifying enzyme
PANTHER Pathway Category	Ras Pathway p90RSK Interleukin signaling pathway p90RSK Insulin/IGF pathway-mitogen activated protein kinase kinase/MAP kinase cascade P90 RSK CCKR signaling map RSK1/2 PDGF signaling pathway p90RSK

4 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

7 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cysteine-type endopeptidase inhibitor activity involved in apoptotic process	Binds to and stops, prevents or reduces the activity of a cysteine-type endopeptidase involved in the apoptotic process.
magnesium ion binding	Binding to a magnesium (Mg) 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.
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
ribosomal protein S6 kinase activity	Catalysis of the reaction: ribosomal protein S6 + ATP = ribosomal protein S6 phosphate + ATP.

15 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.
chemical synaptic transmission	The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
hepatocyte proliferation	The multiplication or reproduction of hepatocytes, resulting in the expansion of a cell population. Hepatocytes form the main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of a cysteine-type endopeptidase activity involved in the apoptotic process.
peptidyl-serine phosphorylation	The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
positive regulation of cell differentiation	Any process that activates or increases the frequency, rate or extent of cell differentiation.
positive regulation of cell growth	Any process that activates or increases the frequency, rate, extent or direction of cell growth.
positive regulation of hepatic stellate cell activation	Any process that activates or increases the frequency, rate or extent of hepatic stellate cell activation.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of transcription, DNA-templated	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
regulation of DNA-templated transcription in response to stress	Modulation of the frequency, rate or extent of transcription from a DNA template as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).
regulation of translation in response to stress	Modulation of the frequency, rate or extent of translation as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

19 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5F3L1	RPS6KA5	Ribosomal protein S6 kinase alpha-5	Gallus gallus (Chicken)	SS
P18652	RPS6KA	Ribosomal protein S6 kinase 2 alpha	Gallus gallus (Chicken)	SS
Q96S38	RPS6KC1	Ribosomal protein S6 kinase delta-1	Homo sapiens (Human)	PR
Q15349	RPS6KA2	Ribosomal protein S6 kinase alpha-2	Homo sapiens (Human)	SS
Q9UK32	RPS6KA6	Ribosomal protein S6 kinase alpha-6	Homo sapiens (Human)	SS
P51812	RPS6KA3	Ribosomal protein S6 kinase alpha-3	Homo sapiens (Human)	EV
O75676	RPS6KA4	Ribosomal protein S6 kinase alpha-4	Homo sapiens (Human)	SS
O75582	RPS6KA5	Ribosomal protein S6 kinase alpha-5	Homo sapiens (Human)	SS
Q9UBS0	RPS6KB2	Ribosomal protein S6 kinase beta-2	Homo sapiens (Human)	PR
P23443	RPS6KB1	Ribosomal protein S6 kinase beta-1	Homo sapiens (Human)	EV SS
Q9WUT3	Rps6ka2	Ribosomal protein S6 kinase alpha-2	Mus musculus (Mouse)	SS
Q9Z2B9	Rps6ka4	Ribosomal protein S6 kinase alpha-4	Mus musculus (Mouse)	SS
P18654	Rps6ka3	Ribosomal protein S6 kinase alpha-3	Mus musculus (Mouse)	SS
Q8C050	Rps6ka5	Ribosomal protein S6 kinase alpha-5	Mus musculus (Mouse)	PR
Q8BLK9	Rps6kc1	Ribosomal protein S6 kinase delta-1	Mus musculus (Mouse)	PR
P18653	Rps6ka1	Ribosomal protein S6 kinase alpha-1	Mus musculus (Mouse)	SS
Q63531	Rps6ka1	Ribosomal protein S6 kinase alpha-1	Rattus norvegicus (Rat)	SS
Q18846	rskn-2	Putative ribosomal protein S6 kinase alpha-2	Caenorhabditis elegans	PR
Q21734	rskn-1	Putative ribosomal protein S6 kinase alpha-1	Caenorhabditis elegans	SS

10	20	30	40	50	60
MPLAQLKEPW	PLMELVPLDP	ENGQTSGEEA	GLQPSKDEGV	LKEISITHHV	KAGSEKADPS
70	80	90	100	110	120
HFELLKVLGQ	GSFGKVFLVR	KVTRPDSGHL	YAMKVLKKAT	LKVRDRVRTK	MERDILADVN
130	140	150	160	170	180
HPFVVKLHYA	FQTEGKLYLI	LDFLRGGDLF	TRLSKEVMFT	EEDVKFYLAE	LALGLDHLHS
190	200	210	220	230	240
LGIIYRDLKP	ENILLDEEGH	IKLTDFGLSK	EAIDHEKKAY	SFCGTVEYMA	PEVVNRQGHS
250	260	270	280	290	300
HSADWWSYGV	LMFEMLTGSL	PFQGKDRKET	MTLILKAKLG	MPQFLSTEAQ	SLLRALFKRN
310	320	330	340	350	360
PANRLGSGPD	GAEEIKRHVF	YSTIDWNKLY	RREIKPPFKP	AVAQPDDTFY	FDTEFTSRTP
370	380	390	400	410	420
KDSPGIPPSA	GAHQLFRGFS	FVATGLMEDD	GKPRAPQAPL	HSVVQQLHGK	NLVFSDGYVV
430	440	450	460	470	480
KETIGVGSYS	ECKRCVHKAT	NMEYAVKVID	KSKRDPSEEI	EILLRYGQHP	NIITLKDVYD
490	500	510	520	530	540
DGKHVYLVTE	LMRGGELLDK	ILRQKFFSER	EASFVLHTIG	KTVEYLHSQG	VVHRDLKPSN
550	560	570	580	590	600
ILYVDESGNP	ECLRICDFGF	AKQLRAENGL	LMTPCYTANF	VAPEVLKRQG	YDEGCDIWSL
610	620	630	640	650	660
GILLYTMLAG	YTPFANGPSD	TPEEILTRIG	SGKFTLSGGN	WNTVSETAKD	LVSKMLHVDP
670	680	690	700	710	720
HQRLTAKQVL	QHPWVTQKDK	LPQSQLSHQD	LQLVKGAMAA	TYSALNSSKP	TPQLKPIESS
730
ILAQRRVRKL	PSTTL