AiPD: Autoinhibited Protein Database

Q14164

Gene name	IKBKE (IKKE, IKKI, KIAA0151)
Protein name	Inhibitor of nuclear factor kappa-B kinase subunit epsilon
Names	I-kappa-B kinase epsilon, IKK-E, IKK-epsilon, IkBKE, Inducible I kappa-B kinase, IKK-i
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9641
EC number	2.7.11.10: Protein-serine/threonine kinases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

326-431 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

326-431 (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 Q14164

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q14164-F1	Predicted				AlphaFoldDB

543 variants for Q14164

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1250555152 CA344462836	2	Q>H		No	ClinGen TOPMed
rs1315790995 CA344462834	2	Q>R		No	ClinGen TOPMed
rs1233452347 CA344462841	3	S>N		No	ClinGen TOPMed
CA344462854 rs1332453725	5	A>D		No	ClinGen TOPMed gnomAD
rs782638358 CA1361125	5	A>T		No	ClinGen ExAC gnomAD
CA344462856 rs1332453725	5	A>V		No	ClinGen TOPMed gnomAD
CA344462868 rs1572233756	7	Y>S		No	ClinGen Ensembl
CA1361126 rs782299835	9	W>C		No	ClinGen ExAC gnomAD
CA344462896 rs1553384268	11	T>A		No	ClinGen Ensembl
rs1553384271 CA344462903	12	D>H		No	ClinGen gnomAD
CA1361128 rs771328607	13	D>E		No	ClinGen ExAC gnomAD
CA1361130 rs782356770	16	G>R		No	ClinGen ExAC gnomAD
TCGA novel	17	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1439475051 CA344462944	18	G>E		No	ClinGen TOPMed
CA344462998 rs1553384294	26	A>S		No	ClinGen gnomAD
rs1553384294 CA344462996	26	A>T		No	ClinGen gnomAD
CA344462999 rs1553384299	26	A>V		No	ClinGen gnomAD
CA344463004 rs1396141437	27	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA344463005 rs1553384304	27	R>H		No	ClinGen gnomAD
CA344463023 rs1173541599	29	K>N		No	ClinGen TOPMed
CA344463042 rs1553384574	30	K>Q		No	ClinGen gnomAD
TCGA novel	30	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344463056 rs1553384578	31	S>C		No	ClinGen gnomAD
CA344463055 rs1553384578	31	S>Y		No	ClinGen gnomAD
rs549538401 CA1361167	32	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA344463093 rs1254928806	34	L>R		No	ClinGen TOPMed
rs139083235 CA36534188	34	L>V		No	ClinGen ESP TOPMed gnomAD
rs1186805906 CA344463109	35	V>L		No	ClinGen TOPMed
rs781957364 CA1361168	37	V>M		No	ClinGen ExAC gnomAD
CA344463192 rs1447034305	42	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1285749873 CA344463214	43	T>A		No	ClinGen TOPMed
rs782264666 CA1361170	45	Y>F		No	ClinGen ExAC gnomAD
rs1553384595 CA344463274	46	L>P		No	ClinGen gnomAD
CA344463271 rs56035621	46	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1361175 rs781921697	47	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1361173 rs367771392	47	R>W	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	48	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782098949 CA1361176	48	P>T		No	ClinGen ExAC gnomAD
TCGA novel	49	R>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1361177 rs143140330	49	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs150428746 CA1361178	49	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA1361179 rs150428746	49	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344463323 rs143140330	49	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs782440026 CA1361182	50	E>K		No	ClinGen ExAC TOPMed gnomAD
CA344463415 rs1539242	52	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782219958 CA1361184	53	V>M		No	ClinGen ExAC TOPMed gnomAD
CA344463473 rs1462772133	55	E>K		No	ClinGen TOPMed
CA36534216 rs903641024	56	F>L		No	ClinGen Ensembl
CA1361186 rs782640857	60	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA344463601 rs782526732	60	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1254120155 CA344463771	65	Q>R		No	ClinGen TOPMed
CA344463819 rs1539243	67	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA36534230 rs56278223	67	I>V		No	ClinGen Ensembl
rs781937364 CA1361189	68	V>I		No	ClinGen ExAC TOPMed gnomAD
CA344463865 rs1219691632	69	K>R		No	ClinGen TOPMed gnomAD
CA1361190 rs201577746	72	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1361191 rs782361671	72	A>V		No	ClinGen ExAC gnomAD
CA344463944 rs372072572	73	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1361193 rs372072572	73	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs534317345 CA1361194	76	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554685342 CA1361195	76	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs781884386	77	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA1361243 rs202128741	78	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs782466362 CA1361246	80	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1361245 rs149591181	80	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1553384816 CA344464173	81	Q>H		No	ClinGen gnomAD
rs956532765 CA36534368	82	K>R		No	ClinGen TOPMed gnomAD
CA344464276 rs1300049768	87	E>*		No	ClinGen TOPMed gnomAD
rs1370253843 CA344464297	88	Y>H		No	ClinGen TOPMed gnomAD
CA344464375 rs1174339324	92	G>E		No	ClinGen TOPMed gnomAD
CA344464394 CA344464396 rs1553384828	93	S>R		No	ClinGen gnomAD
rs1396790508 CA344464433	95	L>M		No	ClinGen TOPMed
rs782184393 CA1361251	96	S>G		No	ClinGen ExAC gnomAD
CA1361252 rs372489938	96	S>T		No	ClinGen ESP ExAC gnomAD
rs917655681 CA36534377	99	E>K		No	ClinGen TOPMed gnomAD
rs1553384847 CA344464576	103	N>D		No	ClinGen gnomAD
rs782265859 CA1361255	104	A>T		No	ClinGen ExAC
TCGA novel	104	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1361257 rs782028061	105	F>C		No	ClinGen ExAC gnomAD
CA36534382 rs949192935	107	L>M		No	ClinGen Ensembl
rs782092694 CA1361261	108	P>R		No	ClinGen ExAC gnomAD
rs781913394 CA1361260	108	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1553384881 CA344464699	109	E>V		No	ClinGen gnomAD
rs782723974 CA1361262	110	D>G		No	ClinGen ExAC gnomAD
CA344464704 rs1210947605	110	D>N		No	ClinGen TOPMed
rs1558473109 CA344464761	113	L>V		No	ClinGen Ensembl
rs1349445353 CA344464776	114	V>M		No	ClinGen TOPMed gnomAD
rs1553384904 CA344464791	115	V>L		No	ClinGen gnomAD
CA1361264 rs782549877	117	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1361265 rs55721947	117	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs55721947 CA36534414	117	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344464823 rs1553384909	118	C>S		No	ClinGen gnomAD
rs1336670825 CA344464853	120	V>L		No	ClinGen TOPMed
CA1361294 rs782627812	122	G>S		No	ClinGen ExAC TOPMed gnomAD
rs781928069 CA344466119	127	R>L		No	ClinGen ExAC TOPMed gnomAD
rs781928069 CA1361297	127	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs370426628 CA1361296	127	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1186302502 CA344466124	128	E>G		No	ClinGen TOPMed gnomAD
rs41296028 CA1361298 VAR_038816	128	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA344466125 rs1186302502	128	E>V		No	ClinGen TOPMed gnomAD
rs782342986 CA1361299	129	N>H		No	ClinGen ExAC gnomAD
rs147688366 CA1361301	130	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1207194500 CA344466147	132	V>M		No	ClinGen TOPMed
rs1464747771 CA344466165	134	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs781888555 CA1361303	135	D>A		No	ClinGen ExAC gnomAD
CA344466171 rs1211870723	135	D>N		No	ClinGen TOPMed gnomAD
rs782067243 CA1361304	136	I>F		No	ClinGen ExAC gnomAD
CA1361305 rs782697959	136	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1553385247 CA344466194	138	P>L		No	ClinGen gnomAD
rs782456876 CA1361307	139	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1228295274 CA344466197	139	G>W		No	ClinGen TOPMed gnomAD
rs1432582527 CA344466201	140	N>D		No	ClinGen TOPMed gnomAD
CA1361310 rs782543224	142	M>V		No	ClinGen ExAC gnomAD
CA1361312 rs139869900	143	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139869900 CA1361313	143	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782588565 CA1361311	143	R>S		No	ClinGen ExAC gnomAD
rs373699027 CA1361315	145	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs373699027 CA344466232	145	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA344466242 rs1392521256	146	G>E		No	ClinGen TOPMed
rs149608778 CA1361317	147	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs937888346 CA36534818	147	E>K		No	ClinGen Ensembl
rs920544265 CA36534822	149	G>R		No	ClinGen TOPMed
rs782271671 CA1361318	150	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs782165427 CA1361319	151	S>I		No	ClinGen ExAC TOPMed gnomAD
rs1553385296 CA344466303	155	L>P		No	ClinGen gnomAD
TCGA novel	156	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1361321 rs782100237	159	G>S		No	ClinGen ExAC TOPMed gnomAD
CA344466332 rs1344445148	160	A>T		No	ClinGen TOPMed gnomAD
rs930474620 CA36534845	161	A>V		No	ClinGen Ensembl
CA344466343 rs782109082	162	R>P		No	ClinGen ExAC TOPMed
rs782109082 CA1361324	162	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs781992974 CA1361323	162	R>W		No	ClinGen ExAC gnomAD
rs1226107989 CA344466363	165	D>E		No	ClinGen TOPMed
CA1361325 rs782797055	165	D>G		No	ClinGen ExAC gnomAD
rs782797055 CA344466362	165	D>V		No	ClinGen ExAC gnomAD
CA1361326 rs374373296	167	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA1361327 rs202057912	168	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1553385318 CA344466380	168	E>K		No	ClinGen gnomAD
CA1361328 rs782752327	169	K>E		No	ClinGen ExAC gnomAD
rs1438395157 CA344466391	169	K>R		No	ClinGen TOPMed
rs764259024 CA36534876	171	V>I		No	ClinGen Ensembl
rs1409863141 CA344466417	173	V>A		No	ClinGen TOPMed gnomAD
rs782647020 CA1361332	177	E>D		No	ClinGen ExAC gnomAD
rs376489390 CA1361362	183	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs201666998 CA1361361	183	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344466528 rs145501152	187	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145501152 CA1361366	187	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1361365 rs202115463	187	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA344466529 rs1553385432	188	A>T		No	ClinGen Ensembl
rs782704785 CA1361367	188	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1361369 rs782081148	191	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs540205249 CA1361370	191	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1458595332 CA344466556	192	K>N		No	ClinGen TOPMed gnomAD
rs149937552 CA1361374	194	Q>P		No	ClinGen ESP ExAC gnomAD
CA1361373 rs149937552	194	Q>R		No	ClinGen ESP ExAC gnomAD
CA1361375 rs782622262	195	Q>E		No	ClinGen ExAC gnomAD
rs782265530 CA1361377	197	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA36534978 rs147887008	199	G>E		No	ClinGen ESP
CA344466597 CA344466598 rs1451035448	199	G>R		No	ClinGen TOPMed
CA344466603 rs372503127 CA36534982	200	V>L		No	ClinGen ESP TOPMed
CA1361381 rs782333633	201	T>S		No	ClinGen ExAC gnomAD
CA36534984 rs143832955	205	W>*		No	ClinGen ESP
CA344466655 rs1553385462	208	G>R		No	ClinGen Ensembl
rs1011590855 CA36535004	211	L>F		No	ClinGen Ensembl
CA1361384 rs782336421	211	L>M		No	ClinGen ExAC TOPMed gnomAD
CA344466681 rs1572241091	212	Y>S		No	ClinGen Ensembl
rs782001341 CA1361385	213	H>R		No	ClinGen ExAC gnomAD
rs1553385473 CA344466693	214	A>T		No	ClinGen gnomAD
rs1572241121 CA344466729	219	L>P		No	ClinGen Ensembl
CA344466738 rs1553385476	221	F>L		No	ClinGen gnomAD
CA344466759 rs1572241142	224	F>L		No	ClinGen Ensembl
CA344466769 rs1553385478	225	G>D		No	ClinGen gnomAD
CA344466772 rs1553385480	226	G>R		No	ClinGen gnomAD
rs782103435 CA1361386	228	R>Q		No	ClinGen ExAC gnomAD
rs377576134 CA36535015	229	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs1021086074 CA36535014	229	R>W		No	ClinGen gnomAD
rs1553385489 CA344466797	230	N>K		No	ClinGen gnomAD
CA1361387 rs782815039	230	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1361388 rs782571698	233	I>L		No	ClinGen ExAC TOPMed gnomAD
CA344466816 rs1292032364	233	I>N		No	ClinGen TOPMed
CA344466824 rs1404338780	234	M>T		No	ClinGen TOPMed
rs1572242981 CA344467228	235	Y>S		No	ClinGen Ensembl
rs782160603 CA1361410	236	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA344467234 rs868911910	236	R>W		No	ClinGen Ensembl
rs782809326 CA1361411	237	I>F		No	ClinGen ExAC
CA1361412 rs781810395	237	I>N		No	ClinGen ExAC
CA1361413 rs148172544	239	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs781821296 CA344467273	242	P>L		No	ClinGen ExAC TOPMed gnomAD
rs781821296 CA1361415	242	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs782633812 CA1361417	246	I>T		No	ClinGen ExAC TOPMed gnomAD
CA344467293 rs1553385805	246	I>V		No	ClinGen Ensembl
CA344467298 rs1553385807	247	A>T		No	ClinGen gnomAD
rs1553385808 CA344467307	248	G>D		No	ClinGen gnomAD
CA344467313 rs1553385811	249	A>D		No	ClinGen gnomAD
CA344467312 rs1553385810	249	A>T		No	ClinGen gnomAD
CA344467315 rs1553385811	249	A>V		No	ClinGen gnomAD
rs144428994 CA1361421	252	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs533634715 CA1361419	252	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1553385831 CA344467340	253	E>D		No	ClinGen gnomAD
rs1553385826 CA344467334	253	E>K		No	ClinGen gnomAD
CA344467345 rs1572243236	254	N>T		No	ClinGen Ensembl
CA344467350 rs1553385836	255	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA344467359 rs1553385842	256	P>L		No	ClinGen gnomAD
rs782007787 CA1361423	256	P>S		No	ClinGen ExAC
rs1572243293 CA344467364	257	L>P		No	ClinGen Ensembl
CA1361425 rs782427534	258	E>G		No	ClinGen ExAC gnomAD
rs1553385845 CA344467380	259	W>C		No	ClinGen gnomAD
rs1553385851 CA344467386	260	S>N		No	ClinGen gnomAD
CA344467402 rs1553385854	262	T>I		No	ClinGen gnomAD
CA344467401 rs1553385854	262	T>N		No	ClinGen gnomAD
CA344467398 rs1572243339	262	T>P		No	ClinGen Ensembl
CA1361427 rs782067873	263	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1572243396 CA344467422	266	T>P		No	ClinGen Ensembl
rs781889892 CA36535443	272	G>E		No	ClinGen TOPMed
rs1553385952 CA344467483	274	Q>K		No	ClinGen gnomAD
rs781994897 CA1361447	275	S>I		No	ClinGen ExAC gnomAD
CA1361448 rs782111869	275	S>R		No	ClinGen ExAC gnomAD
rs1553385960 CA344467519	279	P>L		No	ClinGen gnomAD
CA344467516 rs1269652982	279	P>T		No	ClinGen TOPMed
CA344467537 rs1224901062	282	A>G		No	ClinGen TOPMed gnomAD
CA344467534 rs1553385974	282	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA344467539 rs1224901062	282	A>V		No	ClinGen TOPMed gnomAD
rs782019674 CA1361450	289	Q>L		No	ClinGen ExAC gnomAD
CA1361451 rs782066241	290	A>T		No	ClinGen ExAC gnomAD
rs782687981 CA344467631	291	K>N		No	ClinGen ExAC gnomAD
CA344467695 rs1339859715	296	D>N		No	ClinGen TOPMed
CA1361455 rs370890474	297	Q>*		No	ClinGen ESP ExAC gnomAD
rs1271766187 CA344467758	300	A>V		No	ClinGen TOPMed gnomAD
rs1325559311 CA344467771 CA344467772	301	E>D		No	ClinGen TOPMed gnomAD
rs782536745 CA1361457	302	T>A		No	ClinGen ExAC gnomAD
CA1361458 rs578108079	302	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529336020 CA1361461	307	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1410830322 CA344467849	308	R>*		No	ClinGen TOPMed gnomAD
rs1410830322 CA344467847	308	R>G		No	ClinGen TOPMed gnomAD
rs782254432 CA1361462	308	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1361463 rs782363908	309	V>L		No	ClinGen ExAC gnomAD
rs149987336 CA1361465	311	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1361466 rs782327309	312	H>Y		No	ClinGen ExAC gnomAD
CA1361467 rs781917618	313	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1553386044 CA344467935	315	S>F		No	ClinGen gnomAD
rs1022603078 CA36535501	319	A>E		No	ClinGen Ensembl
CA344468013 rs1430265856	321	L>P		No	ClinGen TOPMed
rs543016946 CA1361469	322	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA344468041 rs1553386055	323	H>Y		No	ClinGen gnomAD
CA1361471 rs782163104	324	I>V		No	ClinGen ExAC gnomAD
rs1553386060 CA344468094	325	Y>C		No	ClinGen gnomAD
rs868950433 CA344468125	327	H>Y		No	ClinGen Ensembl
rs1266628286 CA344468154	328	A>G		No	ClinGen TOPMed
CA344468195 rs1553386062	330	N>I		No	ClinGen Ensembl
rs1553386065 CA344468198	330	N>K		No	ClinGen gnomAD
rs782786838 CA1361472	331	T>M		No	ClinGen ExAC gnomAD
rs782155313 CA1361495	333	A>P		No	ClinGen ExAC gnomAD
CA36535740 rs910626218	334	I>T		No	ClinGen Ensembl
rs1251881142 CA344468332	335	F>V		No	ClinGen TOPMed
CA1361497 rs782778574	336	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	337	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782742334 CA1361500	339	V>A		No	ClinGen ExAC gnomAD
rs782430885 CA1361499	339	V>L		No	ClinGen ExAC TOPMed gnomAD
rs782430885 CA344468378	339	V>M		No	ClinGen ExAC TOPMed gnomAD
rs781819901 CA1361501	341	K>R		No	ClinGen ExAC TOPMed gnomAD
rs978761085 CA36535748	343	T>N		No	ClinGen TOPMed
TCGA novel	347	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1553386245 CA344468438	348	R>*		No	ClinGen gnomAD
CA1361504 rs149219314	348	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA1361503 rs149219314	348	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1553386246 CA344468445	349	H>L		No	ClinGen gnomAD
CA1361505 rs782275520	351	E>K		No	ClinGen ExAC gnomAD
CA1361506 rs782465731	356	G>D		No	ClinGen ExAC gnomAD
CA1361507 rs782567771	358	L>F		No	ClinGen ExAC TOPMed gnomAD
CA1361509 rs782349260	359	C>S		No	ClinGen ExAC TOPMed gnomAD
rs782242787 CA1361511	362	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1361514 rs782054617	365	V>D		No	ClinGen ExAC gnomAD
rs781784265 CA1361513	365	V>F		No	ClinGen ExAC TOPMed gnomAD
rs781784265 CA1361512	365	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA344468642 rs1553386266	367	A>V		No	ClinGen gnomAD
CA1361517 rs781966344	370	I>M		No	ClinGen ExAC TOPMed gnomAD
rs17021877 CA344468685	371	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs17021877 VAR_038817 CA1361518	371	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1361519 rs781909564	373	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1361521 rs782715972	374	T>M		No	ClinGen ExAC TOPMed gnomAD
rs782715972 CA344468730	374	T>R		No	ClinGen ExAC TOPMed gnomAD
rs140533827 CA1361523	377	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781875532 CA1361525	381	L>H		No	ClinGen ExAC gnomAD
rs1553386298 CA344468827	383	S>G		No	ClinGen gnomAD
rs782677455 CA1361527	383	S>N		No	ClinGen ExAC gnomAD
CA344468839 rs782501971	384	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1361528 rs782501971	384	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1553386307 CA344468856	385	A>G		No	ClinGen gnomAD
CA1361529 rs151049025	386	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1384453577 CA344468880	387	P>L		No	ClinGen TOPMed
CA36535820 rs782681154	388	K>N		No	ClinGen Ensembl
CA344468915 rs879966456	390	L>P		No	ClinGen Ensembl
CA1361531 rs534410005	391	A>D		No	ClinGen 1000Genomes ExAC gnomAD
CA36535823 rs550962936	391	A>S		No	ClinGen Ensembl
CA344468930 rs1553386323	392	F>L		No	ClinGen gnomAD
CA344468943 rs1553386325	393	R>G		No	ClinGen gnomAD
rs1553386326 CA344468947	393	R>K		No	ClinGen gnomAD
CA344468956 rs1290190793	394	D>N		No	ClinGen TOPMed
CA344469147 rs1553386503	396	A>S		No	ClinGen gnomAD
CA344469149 rs1553386506	396	A>V		No	ClinGen gnomAD
CA1361554 rs782223266	397	L>R		No	ClinGen ExAC gnomAD
rs782392890 CA1361555	399	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1193536519 CA344469173	400	P>L		No	ClinGen TOPMed
CA1361557 rs145306712	401	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs143491598 CA1361560	403	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1361559 rs143491598	403	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA344469199 rs1321275987	405	K>Q		No	ClinGen TOPMed
CA344469212 rs1274014354	406	V>G		No	ClinGen TOPMed
rs1553386528 CA344469213	407	D>N		No	ClinGen gnomAD
CA36536097 rs782747957	410	A>V		No	ClinGen TOPMed gnomAD
rs782751880 CA1361565	413	N>K		No	ClinGen ExAC gnomAD
CA344469257 rs1399315851	413	N>Y		No	ClinGen TOPMed
rs782083272	417	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs782163725 CA1361583	418	V>A		No	ClinGen ExAC gnomAD
rs145736762 CA1361582	418	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1553386569 CA344469334	419	L>S		No	ClinGen gnomAD
CA1361585 rs376382831	421	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376382831 CA1361584	421	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344469359 rs1553386572	421	A>V		No	ClinGen gnomAD
rs1312663807 CA344469364	422	G>S		No	ClinGen TOPMed gnomAD
rs1366606980 CA344469426	427	R>Q		No	ClinGen TOPMed gnomAD
rs374485120 CA1361588	427	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA344469435 rs1553386588	428	L>P		No	ClinGen gnomAD
rs1553386591 CA344469445	429	A>T		No	ClinGen gnomAD
rs782442134 CA1361592	430	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs368845063 CA1361591	430	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA1361593 rs782574270	431	A>D		No	ClinGen ExAC TOPMed gnomAD
CA344469466 rs782574270	431	A>V		No	ClinGen ExAC TOPMed gnomAD
CA1361594 rs782217870	435	G>A		No	ClinGen ExAC gnomAD
CA344469507 rs1553386602	436	Q>K		No	ClinGen gnomAD
rs782340929 CA1361595	441	R>G		No	ClinGen ExAC TOPMed gnomAD
rs200663079 CA1361596	441	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA344469576 rs782340929	441	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA344469613 rs1553386609	444	H>Q		No	ClinGen gnomAD
TCGA novel	444	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1379829897 CA344469626	445	W>*		No	ClinGen TOPMed gnomAD
rs1379829897 CA344469628	445	W>C		No	ClinGen TOPMed gnomAD
CA344469647 rs1553386612	447	M>L		No	ClinGen gnomAD
rs1174548942 CA344469649	447	M>T		No	ClinGen TOPMed gnomAD
rs1572248443 CA344469721	449	V>G		No	ClinGen Ensembl
rs150772428 CA1361614	449	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150772428 CA1361613	449	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344469727 rs1336309654	450	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1553386771 CA344469746	451	Q>R		No	ClinGen gnomAD
rs782681189 CA1361616	452	A>G		No	ClinGen ExAC gnomAD
rs782495013 CA1361615	452	A>T		No	ClinGen ExAC gnomAD
CA1361618 rs782313349	456	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782278442 CA1361617	456	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1420107001 CA344469836	460	V>L		No	ClinGen TOPMed
CA1361619 rs782622789	461	A>T		No	ClinGen ExAC gnomAD
rs1381992138 CA344469853	461	A>V		No	ClinGen TOPMed gnomAD
CA1361620 rs201028800	462	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA344469874 rs1553386787	463	T>I		No	ClinGen gnomAD
rs781990877 CA1361622	464	S>C		No	ClinGen ExAC TOPMed gnomAD
rs140041163 CA1361623	465	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140041163 CA1361624	465	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344469896 rs1237533583	467	Y>H		No	ClinGen TOPMed gnomAD
CA344469915 rs1553386802	469	S>R		No	ClinGen gnomAD
rs781943218 CA1361626	471	S>N		No	ClinGen ExAC TOPMed gnomAD
rs782741977 CA1361628	473	G>R		No	ClinGen ExAC TOPMed gnomAD
rs781813109 CA344469957	475	E>D		No	ClinGen ExAC TOPMed gnomAD
rs201014436 CA1361630	476	R>K		No	ClinGen ExAC TOPMed gnomAD
CA344469959 rs1553386813	476	R>W		No	ClinGen gnomAD
CA344470218 rs1553388205	478	S>G		No	ClinGen gnomAD
CA1361643 rs139758641	480	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs541573643 CA1361644	482	G>R		No	ClinGen ExAC gnomAD
CA344470252 rs52817862	483	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_040571 rs52817862 CA1361645	483	T>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs782157591 CA1361648	491	A>V		No	ClinGen ExAC TOPMed gnomAD
CA36537740 rs916960929	493	A>V		No	ClinGen Ensembl
CA36537741 rs948499703	494	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA344470341 rs1572255391	497	S>A		No	ClinGen Ensembl
rs1490955570 CA344470344	497	S>F		No	ClinGen TOPMed gnomAD
CA344470345 rs1289861158	498	R>G		No	ClinGen TOPMed
rs1553388240 CA344470351	498	R>S		No	ClinGen gnomAD
rs781938435 CA344470357	500	R>G		No	ClinGen ExAC TOPMed gnomAD
rs782731070 CA1361652	500	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs781938435 CA1361650	500	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs552333971 CA1361667	503	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA344470385 rs1281179215	503	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs968670220 CA36537805	505	V>F		No	ClinGen TOPMed gnomAD
CA36537807 rs1000180372	511	Q>P		No	ClinGen Ensembl
CA1361669 rs199623162	514	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs41299015 CA1361671 VAR_038818	515	E>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1361672 rs567956347	516	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA1361674 rs782089509	516	T>N		No	ClinGen ExAC gnomAD
rs567956347 CA1361673	516	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1395220205 CA344470549	519	S>R		No	ClinGen TOPMed gnomAD
TCGA novel	519	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1303882419 CA344470560	521	S>G		No	ClinGen TOPMed
rs1471258899 CA344470570	521	S>R		No	ClinGen TOPMed gnomAD
CA36537819 rs879953097	525	R>Q		No	ClinGen TOPMed gnomAD
rs781867739 CA1361676	525	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1361678 rs782680430	531	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1361677 rs782500380	531	R>W		No	ClinGen ExAC TOPMed gnomAD
CA344470679 rs141003735	532	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141003735 CA1361679	532	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1361681 rs782557888	534	V>A		No	ClinGen ExAC gnomAD
rs782464431 CA1361680	534	V>I		No	ClinGen ExAC gnomAD
CA344470721 rs1553388326	535	H>R		No	ClinGen gnomAD
rs1553388320 CA344470716	535	H>Y		No	ClinGen Ensembl
TCGA novel	536	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1553389193 CA344471575	539	S>R		No	ClinGen gnomAD
rs868931365 CA344471589	541	Q>K		No	ClinGen Ensembl
CA1361705 VAR_038819 rs41299037	543	I>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1558482178 CA344471671	547	L>S		No	ClinGen Ensembl
rs782317105 CA1361707	548	D>N		No	ClinGen ExAC gnomAD
CA344471696 rs1553389208	549	K>R		No	ClinGen gnomAD
TCGA novel	550	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs957949831 CA36540392	550	M>K		No	ClinGen Ensembl
CA1361708 rs782626505	551	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA344471750 rs1558482207	552	F>L		No	ClinGen Ensembl
rs1553389217 CA344471762	554	Y>C		No	ClinGen gnomAD
rs1553389219 CA344471767	555	K>E		No	ClinGen gnomAD
rs782377287 CA1361710	555	K>R		No	ClinGen ExAC gnomAD
rs1553389222 CA344471790	557	F>S		No	ClinGen TOPMed
CA344471841 rs1553389225	561	R>K		No	ClinGen gnomAD
CA1361711 rs781981008	562	M>L		No	ClinGen ExAC TOPMed gnomAD
CA344471875 rs1553389229	564	P>T		No	ClinGen Ensembl
CA344472051 rs1553390127	565	G>E		No	ClinGen gnomAD
TCGA novel	565	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1553390134 CA344472060	566	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA344472090 rs1553390138	568	Y>*		No	ClinGen gnomAD
TCGA novel	570	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782309605 CA1361730	570	E>K		No	ClinGen ExAC gnomAD
CA1361732 rs558511707	573	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1553390150 CA344472169	574	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1348495884 CA344472199	577	D>N		No	ClinGen TOPMed
CA344472418 rs1553390403	579	V>E		No	ClinGen gnomAD
rs1553390393 CA344472413	579	V>M		No	ClinGen gnomAD
rs1273214059 CA344472488	585	A>V		No	ClinGen TOPMed
CA36541491 rs943351300	591	V>A		No	ClinGen Ensembl
CA36541489 rs911981066	591	V>M		No	ClinGen Ensembl
CA1361751 rs782299523	595	E>D		No	ClinGen ExAC gnomAD
rs1364887368 CA344472585	595	E>G		No	ClinGen TOPMed
rs782181622 CA1361754	597	V>A		No	ClinGen ExAC gnomAD
CA1361753 rs782580521	597	V>M		No	ClinGen ExAC gnomAD
rs200241005 CA1361755	598	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1572266402 CA344472613	598	Q>R		No	ClinGen Ensembl
CA344472636 rs1553390454	600	Y>C		No	ClinGen gnomAD
rs782141896 CA1361757	600	Y>H		No	ClinGen ExAC gnomAD
CA1361758 VAR_038820 rs12059562	602	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	603	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201532671 CA344472708	607	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1553390465 CA344472718	608	G>A		No	ClinGen Ensembl
rs781787394 CA1361762	608	G>S		No	ClinGen ExAC gnomAD
rs1553390467 CA344472730	610	R>G		No	ClinGen gnomAD
CA344472733 rs1196740276	610	R>K		No	ClinGen TOPMed
rs1553390471 CA344472743	611	M>L		No	ClinGen gnomAD
CA1361763 rs782095693	612	R>W		No	ClinGen ExAC gnomAD
CA1361838 rs782414342	613	V>M		No	ClinGen ExAC gnomAD
rs782592319 CA1361839	614	V>M		No	ClinGen ExAC gnomAD
CA344472864 rs920936052	615	H>Q		No	ClinGen TOPMed gnomAD
rs782180809 CA1361840	615	H>R		No	ClinGen ExAC gnomAD
CA344472875 rs1553391021	616	E>D		No	ClinGen gnomAD
CA344472865 rs1164611253	616	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1572269012 CA344472881	617	T>P		No	ClinGen Ensembl
CA1361841 rs139503955	619	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA344472902 rs1572269023	619	N>T		No	ClinGen Ensembl
rs1572269058 CA344472909	620	H>P		No	ClinGen Ensembl
rs782375968 CA344472913	620	H>Q		No	ClinGen ExAC gnomAD
CA1361843 rs782131571	620	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs893379156 CA36542021	621	L>P		No	ClinGen Ensembl
CA1361846 rs367815847	622	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs199747005 CA344472928	622	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1361847 rs199747005	622	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs367815847 CA344472924	622	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	627	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1553391043 CA344472977	628	V>M		No	ClinGen gnomAD
rs1572269164 CA344473001	630	A>G		No	ClinGen Ensembl
rs1206811963 CA344472997	630	A>P		No	ClinGen TOPMed
rs1553391053 CA344473009	631	C>Y		No	ClinGen gnomAD
CA344473105 rs1484893033	638	V>A		No	ClinGen TOPMed gnomAD
CA1361851 rs541558948	638	V>F		No	ClinGen 1000Genomes ExAC gnomAD
CA344473107 rs1484893033	638	V>G		No	ClinGen TOPMed gnomAD
CA1361852 rs541558948	638	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs782547285 CA1361853	640	E>G		No	ClinGen ExAC TOPMed gnomAD
CA344473122 rs1553391067	640	E>K		No	ClinGen gnomAD
CA344473140 rs1553391073	641	S>N		No	ClinGen gnomAD
CA344473145 rs1572269239	641	S>R		No	ClinGen Ensembl
CA1361854 rs782657929	644	K>N		No	ClinGen ExAC gnomAD
CA1361876 rs782564525	645	L>V		No	ClinGen ExAC
CA1361879 rs782485155	646	L>P		No	ClinGen ExAC gnomAD
rs781801550 CA36542113	651	H>Q		No	ClinGen TOPMed
rs1302996739 CA344473302	651	H>R		No	ClinGen TOPMed
CA344473327 rs1553391148	653	L>H		No	ClinGen gnomAD
CA344473337 rs1553391155	654	L>F		No	ClinGen gnomAD
rs782028724 CA1361883	656	D>N		No	ClinGen ExAC TOPMed gnomAD
CA344473375 rs1430127416	657	R>*		No	ClinGen TOPMed gnomAD
CA344473374 rs1430127416	657	R>G		No	ClinGen TOPMed gnomAD
CA1361885 rs782318549	657	R>Q		No	ClinGen ExAC gnomAD
rs565925188 CA36542131	658	A>V		No	ClinGen 1000Genomes TOPMed
rs781927351 CA1361886	659	K>R		No	ClinGen ExAC gnomAD
CA1361887 VAR_040572 rs55822317	660	G>E		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1553391167 CA344473413	660	G>W		No	ClinGen gnomAD
CA344473427 rs1553391176	661	A>D		No	ClinGen gnomAD
rs1553391174 CA344473419	661	A>T		No	ClinGen gnomAD
TCGA novel	661	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344473449 rs1553391180	663	A>P		No	ClinGen gnomAD
rs782009287 CA1361889	663	A>V		No	ClinGen ExAC TOPMed gnomAD
rs782804652 CA1361891	664	S>L		No	ClinGen ExAC TOPMed
rs782760912 CA1361894	665	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1553391194 CA344473487	666	P>L		No	ClinGen gnomAD
CA344473485 rs1553391194	666	P>R		No	ClinGen gnomAD
rs782630908 CA1361897	668	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1456914569 CA344473508	668	I>T		No	ClinGen TOPMed gnomAD
rs782630908 CA344473502	668	I>V		No	ClinGen ExAC TOPMed gnomAD
rs782290831 CA1361898	669	A>D		No	ClinGen ExAC gnomAD
rs1553391211 CA344473524	670	P>S		No	ClinGen gnomAD
rs1553391213 CA344473542	671	Y>*		No	ClinGen gnomAD
rs1225884653 CA344473547	672	P>A		No	ClinGen TOPMed
CA344473552 rs1322042486	672	P>R		No	ClinGen TOPMed gnomAD
CA1361900 rs782538465	673	S>N		No	ClinGen ExAC gnomAD
CA344473567 rs1553391219	673	S>R		No	ClinGen gnomAD
rs1553391223 CA344473572	674	P>H		No	ClinGen gnomAD
rs946263761 CA36542185	674	P>S		No	ClinGen Ensembl
CA1361901 rs782568009	676	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA344473593 rs782183853	676	R>P		No	ClinGen ExAC gnomAD
CA1361902 rs782183853	676	R>Q		No	ClinGen ExAC gnomAD
rs1553391229 CA344473610	678	D>V		No	ClinGen gnomAD
rs782431801 CA1361930	686	L>F		No	ClinGen ExAC gnomAD
rs782013955 CA1361931	687	C>R		No	ClinGen ExAC gnomAD
rs782693817 CA1361933	688	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1307447955 CA344474174	694	A>S		No	ClinGen TOPMed gnomAD
TCGA novel	694	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781849914 CA1361934	697	L>F		No	ClinGen ExAC gnomAD
CA36542439 rs893596825	697	L>R		No	ClinGen Ensembl
TCGA novel	698	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1361936 rs200362703	700	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA344474290 rs1452780177	702	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs781860835 CA1361937	702	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1553391451 CA344474299	703	I>V		No	ClinGen gnomAD
rs1553391457 CA344474316	705	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs781809827 CA1361940	706	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs782670085 CA1361939	706	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1303062510 CA344474685	709	R>I		No	ClinGen TOPMed
CA1361959 rs782762370	712	A>E		No	ClinGen ExAC gnomAD
CA344474700 rs1436264832	712	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1361960 VAR_019989 rs3748022	713	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1361961 rs782526058	714	P>H		No	ClinGen ExAC gnomAD
rs782589733 CA1361963 CA344474721	715	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1366011854 CA344474725	716	V>D		No	ClinGen TOPMed
CA1361964 rs782480904	717	V>C		No	ClinGen ExAC gnomAD

No associated diseases with Q14164

4 regional properties for Q14164

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	9 - 315	IPR000719
binding_site	Protein kinase, ATP binding site	15 - 38	IPR017441
domain	TANK binding kinase 1, ubiquitin-like domain	308 - 392	IPR041087
domain	TANK-binding kinase 1, coiled-coil domain 1	400 - 645	IPR041309

Functions

		Description
EC Number	2.7.11.10	Protein-serine/threonine kinases
Subcellular Localization	Cytoplasm Nucleus Nucleus, PML body	Targeting to PML nuclear bodies upon DNA damage is TOPORS-dependent (PubMed:20188669) Located diffusely throughout the cytoplasm but locates to punctate cytoplasmic bodies when coexpressed with TRIM6 (PubMed:24882218)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 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.
mitochondrial membrane	Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
PML body	A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection.
serine/threonine protein kinase complex	A protein complex which is capable of protein serine/threonine kinase activity.

8 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
identical protein binding	Binding to an identical protein or proteins.
IkappaB kinase activity	Catalysis of the reaction: ATP + IkappaB protein = ADP + IkappaB phosphoprotein.
K48-linked polyubiquitin modification-dependent protein binding	Binding to a protein upon poly-ubiquitination formed by linkages between lysine residues at position 48 in the target protein.
NF-kappaB-inducing kinase activity	Catalysis of the phosphorylation of the alpha or beta subunit of the inhibitor of kappaB kinase complex (IKK).
protein phosphatase binding	Binding to a protein phosphatase.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.

16 GO annotations of biological process

Name	Definition
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.
defense response to virus	Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
gene expression	The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes.
immune response	Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.
interleukin-17-mediated signaling pathway	The series of molecular signals initiated by interleukin-17 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
intrinsic apoptotic signaling pathway in response to DNA damage	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the detection of DNA damage, and ends when the execution phase of apoptosis is triggered.
mRNA stabilization	Prevention of degradation of mRNA molecules. In the absence of compensating changes in other processes, the slowing of mRNA degradation can result in an overall increase in the population of active mRNA molecules.
peptidyl-serine phosphorylation	The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
positive regulation of DNA-binding transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
positive regulation of I-kappaB kinase/NF-kappaB signaling	Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling.
positive regulation of lipid storage	Any process that increases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development.
positive regulation of type I interferon-mediated signaling pathway	Any process that increases the rate, frequency or extent of a type I interferon-mediated signaling pathway.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of protein-containing complex assembly	Any process that modulates the frequency, rate or extent of protein complex assembly.
response to interferon-beta	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-beta stimulus. Interferon-beta is a type I interferon.
type I interferon signaling pathway	The series of molecular signals initiated by type I interferon binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9VEZ5	IKKbeta	Inhibitor of nuclear factor kappa-B kinase subunit beta	Drosophila melanogaster (Fruit fly)	PR
O14920	IKBKB	Inhibitor of nuclear factor kappa-B kinase subunit beta	Homo sapiens (Human)	PR
Q9R0T8	Ikbke	Inhibitor of nuclear factor kappa-B kinase subunit epsilon	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MQSTANYLWH	TDDLLGQGAT	ASVYKARNKK	SGELVAVKVF	NTTSYLRPRE	VQVREFEVLR
70	80	90	100	110	120
KLNHQNIVKL	FAVEETGGSR	QKVLVMEYCS	SGSLLSVLES	PENAFGLPED	EFLVVLRCVV
130	140	150	160	170	180
AGMNHLRENG	IVHRDIKPGN	IMRLVGEEGQ	SIYKLTDFGA	ARELDDDEKF	VSVYGTEEYL
190	200	210	220	230	240
HPDMYERAVL	RKPQQKAFGV	TVDLWSIGVT	LYHAATGSLP	FIPFGGPRRN	KEIMYRITTE
250	260	270	280	290	300
KPAGAIAGAQ	RRENGPLEWS	YTLPITCQLS	LGLQSQLVPI	LANILEVEQA	KCWGFDQFFA
310	320	330	340	350	360
ETSDILQRVV	VHVFSLSQAV	LHHIYIHAHN	TIAIFQEAVH	KQTSVAPRHQ	EYLFEGHLCV
370	380	390	400	410	420
LEPSVSAQHI	AHTTASSPLT	LFSTAIPKGL	AFRDPALDVP	KFVPKVDLQA	DYNTAKGVLG
430	440	450	460	470	480
AGYQALRLAR	ALLDGQELMF	RGLHWVMEVL	QATCRRTLEV	ARTSLLYLSS	SLGTERFSSV
490	500	510	520	530	540
AGTPEIQELK	AAAELRSRLR	TLAEVLSRCS	QNITETQESL	SSLNRELVKS	RDQVHEDRSI
550	560	570	580	590	600
QQIQCCLDKM	NFIYKQFKKS	RMRPGLGYNE	EQIHKLDKVN	FSHLAKRLLQ	VFQEECVQKY
610	620	630	640	650	660
QASLVTHGKR	MRVVHETRNH	LRLVGCSVAA	CNTEAQGVQE	SLSKLLEELS	HQLLQDRAKG
670	680	690	700	710
AQASPPPIAP	YPSPTRKDLL	LHMQELCEGM	KLLASDLLDN	NRIIERLNRV	PAPPDV