AiPD: Autoinhibited Protein Database

Q8N9B4

Gene name	ANKRD42
Protein name	Ankyrin repeat domain-containing protein 42
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:338699
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-48 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-48 (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 Q8N9B4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N9B4-F1	Predicted				AlphaFoldDB

347 variants for Q8N9B4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6210231 rs781486105	2	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1017799691 CA225474585	3	G>R		No	ClinGen TOPMed gnomAD
CA225474586 rs779093657	3	G>V		No	ClinGen Ensembl
rs1590953016 CA382165471	4	V>G		No	ClinGen Ensembl
CA382165477 rs1436037743	5	A>D		No	ClinGen gnomAD
CA382165484 rs1183250200	6	N>S		No	ClinGen TOPMed gnomAD
CA6210234 rs780231587	7	S>*		No	ClinGen ExAC gnomAD
rs1219868746 CA382165493	8	G>S		No	ClinGen gnomAD
CA6210236 rs768990030	8	G>V		No	ClinGen ExAC gnomAD
CA6210237 rs774722696	9	P>R		No	ClinGen ExAC gnomAD
rs773105019 CA6210240	13	S>F		No	ClinGen ExAC gnomAD
TCGA novel	15	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM467490 rs760713904 CA6210241	16	T>I	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs760713904 CA382165584	16	T>S		No	ClinGen ExAC TOPMed gnomAD
CA6210242 rs766210770	17	A>T		No	ClinGen ExAC TOPMed gnomAD
CA382165627 rs1342810881	19	P>L		No	ClinGen TOPMed
CA6210270 rs756439669	21	S>F		No	ClinGen ExAC gnomAD
TCGA novel	22	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs567974633 CA6210271	23	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA6210273 rs754328040	25	V>G		No	ClinGen ExAC gnomAD
rs535783567 CA6210274	29	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA6210277 rs758757336	30	I>M		No	ClinGen ExAC TOPMed gnomAD
CA6210276 rs748222729	30	I>T		No	ClinGen ExAC TOPMed gnomAD
rs779177252 CA6210275	30	I>V		No	ClinGen ExAC gnomAD
CA6210278 rs777859004	31	H>R		No	ClinGen ExAC TOPMed gnomAD
rs367717761 CA225476986	33	A>T		No	ClinGen Ensembl
rs1458946761 CA382166458	33	A>V		No	ClinGen gnomAD
CA382166462 rs1565173922	34	V>L		No	ClinGen Ensembl
CA6210279 rs377381576	35	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1401510201 CA382166474	35	R>L		No	ClinGen gnomAD
rs1237639338 CA382166511	37	G>V		No	ClinGen TOPMed
CA225476995 rs1015512619	41	Q>H		No	ClinGen Ensembl
CA382166637 rs1394802731	42	L>H		No	ClinGen gnomAD
rs144724340 CA6210281	45	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs770654416 CA6210280	45	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1302784222 CA382168054	47	C>R		No	ClinGen gnomAD
CA225487034 rs372147621	47	C>Y		No	ClinGen ESP TOPMed gnomAD
CA6210312 rs201832541	48	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6210311 rs763512422	48	L>V		No	ClinGen ExAC TOPMed gnomAD
rs182706016 CA6210313	49	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201130789 CA6210318	52	L>F		No	ClinGen ExAC gnomAD
rs201130789 CA382168085	52	L>I		No	ClinGen ExAC gnomAD
rs1211804824 CA382168087	52	L>R		No	ClinGen gnomAD
rs201130789 CA6210317	52	L>V		No	ClinGen ExAC gnomAD
rs1253709601 CA382168092	53	W>*		No	ClinGen gnomAD
rs749259004 CA6210319	53	W>C		No	ClinGen ExAC TOPMed gnomAD
rs528240829 CA382168100	54	H>L		No	ClinGen 1000Genomes ExAC gnomAD
rs528240829 CA6210320	54	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA6210322 rs747686923	56	A>G		No	ClinGen ExAC gnomAD
rs1367025332 CA382168115	57	D>H		No	ClinGen gnomAD
rs1590966999 CA382168127	58	I>T		No	ClinGen Ensembl
rs1327448776 CA382168124	58	I>V		No	ClinGen TOPMed gnomAD
CA6210324 rs138369851	59	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs770312357 CA6210326	61	V>I		No	ClinGen ExAC gnomAD
CA382168144 rs770312357 CA382168143	61	V>L		No	ClinGen ExAC gnomAD
CA6210327 rs775965833	62	T>A		No	ClinGen ExAC gnomAD
CA225487175 rs775965833	62	T>P		No	ClinGen ExAC gnomAD
CA6210328 rs763601768	63	T>M		No	ClinGen ExAC TOPMed gnomAD
CA382168158 rs1319635389	64	R>*		No	ClinGen gnomAD
CA6210330 rs774363165	64	R>K		No	ClinGen ExAC gnomAD
rs1273995312 CA382168166 COSM545288	65	G>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs568308910 CA6210331	66	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
TCGA novel	68	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382168193 rs1163999168	69	S>C		No	ClinGen TOPMed
rs1250502492 CA382168204	71	I>V		No	ClinGen gnomAD
rs1214506625 CA382168211	72	A>P		No	ClinGen gnomAD
CA6210333 rs767438685	74	I>M		No	ClinGen ExAC
CA382168236 rs1590967118	76	G>C		No	ClinGen Ensembl
rs1181716018 CA382168254	78	D>G		No	ClinGen gnomAD
CA382168250 rs1486485475	78	D>N		No	ClinGen gnomAD
rs1181716018 CA382168255	78	D>V		No	ClinGen gnomAD
rs1254548891 CA382168277	81	V>A		No	ClinGen gnomAD
CA382168272 rs1186194211	81	V>I		No	ClinGen TOPMed
CA6210334 rs750667514	82	Q>E		No	ClinGen ExAC gnomAD
rs1166704287 CA382168284	82	Q>H		No	ClinGen TOPMed gnomAD
CA382168443 rs1462958181	83	A>P		No	ClinGen TOPMed
CA6210353 rs773249690	84	L>P		No	ClinGen ExAC gnomAD
rs1392500962 CA382168449	84	L>V		No	ClinGen TOPMed
rs760939649 CA6210354	85	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1565180444 CA382168454	85	I>V		No	ClinGen Ensembl
rs1281440349 CA382168465	86	M>I		No	ClinGen gnomAD
TCGA novel	87	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382168472 rs1590972619	87	N>S		No	ClinGen Ensembl
CA382168486 rs1326434999	89	A>G		No	ClinGen TOPMed gnomAD
CA382168482 rs1374207764	89	A>T		No	ClinGen gnomAD
rs1370007206 CA382168489	90	N>D		No	ClinGen gnomAD
rs766576944 CA6210355 COSM301680	91	L>M	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1299899410 CA382168509	93	A>D		No	ClinGen TOPMed gnomAD
CA382168511 rs1299899410	93	A>V		No	ClinGen TOPMed gnomAD
rs144372384 CA6210357	96	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA225491052 rs903072829	97	R>Q		No	ClinGen TOPMed gnomAD
rs764888146 CA6210358 COSM932550	97	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6210359 rs752708432	98	G>E		No	ClinGen ExAC gnomAD
rs1351009134 CA382168552	100	T>A		No	ClinGen gnomAD
CA6210361 rs777473837	100	T>S		No	ClinGen ExAC TOPMed gnomAD
CA6210362 rs746501785	101	P>A		No	ClinGen ExAC gnomAD
rs1226063770 CA382168560	101	P>L		No	ClinGen TOPMed
rs1565180557 CA382168562	102	L>S		No	ClinGen Ensembl
CA225491080 rs199572110	102	L>V		No	ClinGen Ensembl
CA6210363 rs148803266	104	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1427557422 CA382168580	105	A>T		No	ClinGen TOPMed gnomAD
rs769088210 CA6210366	106	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6210367 rs779108754	107	T>S		No	ClinGen ExAC gnomAD
rs1373201991 CA382168604	109	G>R		No	ClinGen gnomAD
rs374259664 CA6210369	110	H>P		No	ClinGen 1000Genomes ExAC gnomAD
rs773340462 CA6210370	110	H>Q		No	ClinGen ExAC gnomAD
rs374259664 CA225491115	110	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA6210371 rs760743456	111	S>F		No	ClinGen ExAC gnomAD
rs1340550457 CA382168616	111	S>P		No	ClinGen gnomAD
CA6210373 rs536789226	113	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs143168605 CA382168641	115	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs143168605 CA6210375	115	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs576666131 CA6210376	115	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
rs576666131 CA6210377	115	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA225491190 rs1019091326	116	I>M		No	ClinGen TOPMed gnomAD
CA6210378 rs544031789	116	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs751474979 CA6210379	117	M>I		No	ClinGen ExAC gnomAD
CA225491193 rs964807703	117	M>T		No	ClinGen TOPMed
CA225491192 rs781619231	117	M>V		No	ClinGen TOPMed
CA382168662 rs1477172219	118	L>R		No	ClinGen TOPMed
rs565543063 CA6210380	119	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM932552 CA6210381 rs780800417	119	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6210403 rs753467104	123	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1347874445 CA382169088	123	D>V		No	ClinGen gnomAD
rs1260789531 CA382169093	124	P>A		No	ClinGen TOPMed
rs1206848108 CA382169097	124	P>R		No	ClinGen gnomAD
TCGA novel	126	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1441677002 CA382169123	128	D>G		No	ClinGen gnomAD
rs1259949276 CA382169167	134	P>A		No	ClinGen gnomAD
CA225492011 rs919305719	135	V>L		No	ClinGen TOPMed
rs919305719 CA225492009	135	V>M		No	ClinGen TOPMed
CA382169180 rs1221630281	136	H>R		No	ClinGen TOPMed
CA6210406 rs147507852	137	Y>F		No	ClinGen 1000Genomes ESP ExAC gnomAD
TCGA novel	138	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757735593 CA6210407	140	F>S		No	ClinGen ExAC gnomAD
CA382169212 rs781389549	141	H>L		No	ClinGen ExAC gnomAD
CA6210408 rs781389549	141	H>R		No	ClinGen ExAC gnomAD
rs929424767 CA225492019	143	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA382169222 rs745929198	143	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6210410 rs769845467	146	C>R		No	ClinGen ExAC TOPMed gnomAD
rs775587249 CA6210411	146	C>S		No	ClinGen ExAC gnomAD
rs775587249 CA225492023	146	C>Y		No	ClinGen ExAC gnomAD
CA225492025 rs1049676081	147	L>M		No	ClinGen Ensembl
TCGA novel	150	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382169270 rs1287269501	151	V>L		No	ClinGen gnomAD
CA225492049 rs1013173533	153	W>C		No	ClinGen TOPMed gnomAD
CA225492040 rs140132570	153	W>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA382169295 rs1280138290	154	G>V		No	ClinGen gnomAD
CA225492055 rs988615599	155	C>S		No	ClinGen TOPMed gnomAD
rs912880379 CA225492060	156	S>G		No	ClinGen TOPMed gnomAD
CA382169307 rs1344207053	156	S>I		No	ClinGen gnomAD
rs774258551 CA6210414	157	I>T		No	ClinGen ExAC TOPMed gnomAD
rs200518936 CA225492061	158	E>A		No	ClinGen TOPMed gnomAD
CA382169325 rs1166727719	159	D>N		No	ClinGen TOPMed
TCGA novel	161	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6210416 rs145426555	163	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs377748743 CA6210417	163	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1182601457 CA382169381	167	P>Q		No	ClinGen gnomAD
CA225492075 rs371567372	167	P>T		No	ClinGen ESP TOPMed gnomAD
rs1270664521 CA6210506	170	L>*		No	ClinGen gnomAD
CA6210509 rs767987046	173	M>I		No	ClinGen ExAC gnomAD
rs1159335649 CA382171210	173	M>T		No	ClinGen TOPMed
rs151071808 CA6210508	173	M>V		No	ClinGen ESP ExAC TOPMed
CA382171217 rs1194138541	174	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA382171231 rs1365309354	175	G>S		No	ClinGen TOPMed
CA382171272 rs1241325703	178	H>D		No	ClinGen gnomAD
CA382171292 rs1188546138	179	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs774070262 CA6210511	180	F>L		No	ClinGen ExAC gnomAD
TCGA novel	183	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382171351 rs1472201834	184	V>F		No	ClinGen TOPMed
CA382171375 rs1440170918	185	S>R		No	ClinGen TOPMed
CA6210512 rs747710404	187	M>K		No	ClinGen ExAC gnomAD
rs747710404 CA225502659	187	M>T		No	ClinGen ExAC gnomAD
CA382171417 rs1396701301	188	S>R		No	ClinGen TOPMed gnomAD
rs1205344200 CA382171421	189	S>G		No	ClinGen TOPMed
CA382171441 rs77458774	190	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs77458774 CA6210513	190	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149777015 CA6210514	191	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765831742 CA6210516	192	Q>P		No	ClinGen ExAC
CA382171469 rs1271625997	193	V>I		No	ClinGen gnomAD
CA6210517 rs775791557	194	L>F		No	ClinGen ExAC gnomAD
rs763106252 CA6210518	195	K>N		No	ClinGen ExAC gnomAD
TCGA novel	197	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764029903 CA6210519	197	F>S		No	ClinGen ExAC TOPMed gnomAD
rs17515016 VAR_028366 CA6210520	198	N>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6210521 rs376999354	198	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382171559 rs376999354	198	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	205	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754543450 CA6210527	206	D>A		No	ClinGen ExAC TOPMed gnomAD
CA6210526 rs201777710	206	D>H		No	ClinGen 1000Genomes ExAC gnomAD
CA6210525 rs201777710	206	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA6210524 rs201777710	206	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA6210528 rs370358151	208	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs374968381 CA6210529	209	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs771833038 CA6210530	209	Q>H		No	ClinGen ExAC gnomAD
rs1420146688 CA382171784	210	R>S		No	ClinGen gnomAD
TCGA novel	212	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382171875 rs1475565129	214	Q>K		No	ClinGen gnomAD
CA382171904 rs1565188649	215	N>S		No	ClinGen Ensembl
rs1383437463 CA382171918	216	I>V		No	ClinGen gnomAD
CA6210532 rs145605968	218	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1471558427 CA382171954	218	Q>L		No	ClinGen TOPMed
CA382172005 rs1565188683	221	Q>R		No	ClinGen Ensembl
CA382172029 rs1310675114	223	A>D		No	ClinGen gnomAD
CA382172027 rs1278396471	223	A>S		No	ClinGen TOPMed gnomAD
CA382172024 rs1278396471	223	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	223	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1246594475 CA382172044	224	E>D		No	ClinGen TOPMed
CA225502771 rs955195153	224	E>K		No	ClinGen TOPMed
TCGA novel	226	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769993715 CA6210535	227	G>R		No	ClinGen ExAC gnomAD
rs1244878131	229	D>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1275673364 CA382172114	230	L>I		No	ClinGen TOPMed
CA6210537 rs143071836	232	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1225330258 CA382172151	233	Q>K		No	ClinGen gnomAD
CA382172171 rs1205836146	234	E>V		No	ClinGen gnomAD
CA382172487 rs1195400460	237	A>V		No	ClinGen gnomAD
rs1439607267 CA382172503	240	G>R		No	ClinGen gnomAD
rs1259186571 CA382172510	241	H>Y		No	ClinGen TOPMed
rs111986663 CA225505076	244	A>T		No	ClinGen Ensembl
CA382172534 rs1238555017	245	F>L		No	ClinGen TOPMed
rs780249161 CA6210560	246	K>N		No	ClinGen ExAC TOPMed gnomAD
CA6210561 rs749850438	247	G>V		No	ClinGen ExAC gnomAD
CA6210562 rs769031334	248	D>G		No	ClinGen ExAC gnomAD
CA382172577 rs1175932875	251	M>T		No	ClinGen TOPMed gnomAD
CA6210564 rs374797808	258	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA382172625 rs753036830	258	D>N		No	ClinGen ExAC gnomAD
CA6210565 rs374797808	258	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6210563 rs753036830	258	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	259	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	260	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1590993023 CA382172641	260	V>G		No	ClinGen Ensembl
rs148077511 CA225505107	261	I>N		No	ClinGen Ensembl
CA382172649 rs1332039804	262	N>D		No	ClinGen gnomAD
rs202238819 CA6210568	262	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1452664686 CA382172663	264	N>D		No	ClinGen TOPMed
CA6210569 rs766240576	265	E>K		No	ClinGen ExAC gnomAD
rs757011073 CA6210570 COSM1182929	266	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs536189501 CA6210571	266	R>H		No	ClinGen ExAC TOPMed gnomAD
rs536189501 CA6210572	266	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1199333991 CA382172685	267	A>D		No	ClinGen gnomAD
rs1341642396 CA382172680	267	A>T		No	ClinGen gnomAD
CA382172687 rs1328443206	268	D>H		No	ClinGen gnomAD
CA6210573 rs752621704	269	N>D		No	ClinGen ExAC gnomAD
CA382172700 rs1467531457	269	N>K		No	ClinGen gnomAD
rs955366671 CA225505141	270	G>R		No	ClinGen TOPMed
rs758003398 CA6210574	272	T>A		No	ClinGen ExAC gnomAD
CA382172721 rs1440572505	273	P>R		No	ClinGen gnomAD
rs1428269050 CA382172727	274	M>T		No	ClinGen TOPMed gnomAD
rs1192077998 CA382172736	275	H>R		No	ClinGen TOPMed gnomAD
CA382172733 rs1259688292	275	H>Y		No	ClinGen TOPMed
COSM545285 CA382172750 rs1490587337	277	A>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA382173141 rs1237438591	280	Q>*		No	ClinGen gnomAD
CA225510621 rs141136122	281	G>D		No	ClinGen ESP
rs1446336146 CA382173166	283	I>M		No	ClinGen TOPMed
CA6210598 rs755322571	283	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1488806171 CA382173162	283	I>V		No	ClinGen gnomAD
rs748697733 CA6210600	285	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA225510629 rs200204117	286	L>F		No	ClinGen TOPMed gnomAD
CA6210601 rs150299461	287	Q>*		No	ClinGen ESP ExAC gnomAD
CA382173209 rs1358716080	289	L>F		No	ClinGen TOPMed
CA6210602 rs777891789	290	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6210603 rs747060860	291	K>Q		No	ClinGen ExAC gnomAD
rs1420058282 CA382173230	292	M>I		No	ClinGen gnomAD
rs1173308415 CA382173233	293	G>R		No	ClinGen TOPMed gnomAD
rs139990379 CA6210606	294	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776738726 CA6210605	294	A>T		No	ClinGen ExAC
CA225510668 rs139990379	294	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1161654698 CA382173245	295	D>A		No	ClinGen TOPMed
rs1450382798 CA382173255	296	S>N		No	ClinGen gnomAD
CA382173257 rs1303509288	296	S>R		No	ClinGen gnomAD
CA382173260 rs1236678538	297	N>Y		No	ClinGen TOPMed
rs1372654879 CA382173272	298	I>M		No	ClinGen gnomAD
rs1193820188 CA382173276	299	T>N		No	ClinGen TOPMed
rs769750780 CA225510684	300	N>S		No	ClinGen ExAC TOPMed gnomAD
rs769750780 CA6210607	300	N>T		No	ClinGen ExAC TOPMed gnomAD
CA225510687 rs952602700	301	K>I		No	ClinGen TOPMed
rs984021541 CA225510691	302	A>V		No	ClinGen TOPMed
CA6210610 CA6210609 rs762778625	303	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1226252732 CA382173321	306	P>L		No	ClinGen TOPMed
CA382173323 rs1345311889	307	S>G		No	ClinGen gnomAD
rs761357727 CA6210613	307	S>R		No	ClinGen ExAC gnomAD
CA382173335 rs1237581255	308	D>E		No	ClinGen gnomAD
rs767246255 CA6210614	309	V>L		No	ClinGen ExAC gnomAD
TCGA novel	310	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1175458849 CA382173349	311	K>E		No	ClinGen TOPMed gnomAD
rs1239918675 CA382173356	312	R>G		No	ClinGen gnomAD
rs771582271 CA6210631	312	R>S		No	ClinGen ExAC TOPMed gnomAD
rs749867432 CA6210615	312	R>T		No	ClinGen ExAC gnomAD
TCGA novel	314	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	317	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA225472895 rs898820989	319	V>A		No	ClinGen TOPMed
rs1565195327 CA382164757	320	K>N		No	ClinGen Ensembl
rs34394236 CA6210634	326	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	327	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382164857 rs1437612172	328	Y>C		No	ClinGen gnomAD
CA6210637 rs377105157	330	I>T		No	ClinGen ESP ExAC gnomAD
rs1257712477 CA382164879	331	D>G		No	ClinGen TOPMed
TCGA novel	332	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1591005749 CA382164887	332	D>G		No	ClinGen Ensembl
rs765366717 CA6210639	333	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6210641 rs369768778	337	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA225472927 rs888599543	339	N>S		No	ClinGen Ensembl
rs1453182758 CA382164951	341	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1222038826 CA382164966	343	Y>H		No	ClinGen gnomAD
rs373546331 CA225472932	345	I>M		No	ClinGen ESP TOPMed gnomAD
rs756471184 CA6210642	345	I>V		No	ClinGen ExAC gnomAD
TCGA novel	346	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6210644 rs749427473	347	H>R		No	ClinGen ExAC gnomAD
CA6210643 rs780267007	347	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1163473131 CA382164999	348	G>S		No	ClinGen gnomAD
CA382165004 rs1416581912	348	G>V		No	ClinGen TOPMed gnomAD
CA382165008 rs1318086346	349	V>A		No	ClinGen gnomAD
CA382165007 rs1406390539	349	V>F		No	ClinGen gnomAD
TCGA novel	349	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1591005844 CA382165019	351	G>R		No	ClinGen Ensembl
CA382165034 rs1343748907	353	T>A		No	ClinGen gnomAD
TCGA novel	353	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1397780529 CA600712226	354	D>*		No	ClinGen gnomAD
CA225472946 rs905074352	354	D>Y		No	ClinGen TOPMed gnomAD
CA6210645 rs142599914	355	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778937943 CA6210646	358	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs771910250 CA382165090	361	L>M		No	ClinGen ExAC TOPMed
rs1297933278 CA382165098	362	S>N		No	ClinGen TOPMed gnomAD
rs1156338871 CA382165116	364	L>F		No	ClinGen TOPMed
rs772669072 CA6210649	365	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA6210650 rs760312208	367	T>P		No	ClinGen ExAC gnomAD
rs1283333379 CA382165141	368	D>G		No	ClinGen gnomAD
rs558595725 CA6210651	368	D>H		No	ClinGen ExAC gnomAD
rs776091013 CA6210652	369	A>S		No	ClinGen ExAC gnomAD
CA6210687 rs777721754	371	R>I		No	ClinGen ExAC gnomAD
CA6210688 rs746760149	373	S>L		No	ClinGen ExAC gnomAD
rs1487747634 CA382166027	373	S>P		No	ClinGen gnomAD
rs1441252354 CA382166034	374	K>E		No	ClinGen TOPMed
rs1324343823 CA382166069	378	A>T		No	ClinGen TOPMed
CA6210689 rs757059053	378	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6210690 rs780757186	380	W>C		No	ClinGen ExAC gnomAD
rs1364047159 CA382166106	382	M>T		No	ClinGen TOPMed gnomAD
rs556304932 CA6210692	383	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775042581 CA6210693	384	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6210694 rs748788269	385	Y>H		No	ClinGen ExAC gnomAD
rs941123415 CA225475513	386	V>A		No	ClinGen TOPMed
CA6210696 rs112544540	386	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761060183 CA6210697	389	N>H		No	ClinGen ExAC gnomAD
CA225475521 rs911592825	390	N>E		No	ClinGen TOPMed gnomAD
CA382166164 rs911592825	390	N>K		No	ClinGen TOPMed gnomAD
CA225475522 rs940592974	390	N>Y		No	ClinGen TOPMed

No associated diseases with Q8N9B4

3 regional properties for Q8N9B4

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	12 - 272	IPR000719
active_site	Serine/threonine-protein kinase, active site	132 - 144	IPR008271
binding_site	Protein kinase, ATP binding site	18 - 41	IPR017441

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
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.

1 GO annotations of molecular function

Name	Definition
NF-kappaB binding	Binding to NF-kappaB, a transcription factor for eukaryotic RNA polymerase II promoters.

1 GO annotations of biological process

Name	Definition
positive regulation of NF-kappaB transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB.

14 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q04861	NFKB1	Nuclear factor NF-kappa-B p105 subunit	Gallus gallus (Chicken)	SS
P98150	NFKB2	Nuclear factor NF-kappa-B p100 subunit	Gallus gallus (Chicken)	SS
Q94527	Rel	Nuclear factor NF-kappa-B p110 subunit	Drosophila melanogaster (Fruit fly)	EV
P19838	NFKB1	Nuclear factor NF-kappa-B p105 subunit	Homo sapiens (Human)	SS
Q99549	MPHOSPH8	M-phase phosphoprotein 8	Homo sapiens (Human)	PR
Q00653	NFKB2	Nuclear factor NF-kappa-B p100 subunit	Homo sapiens (Human)	SS
Q6ZVZ8	ASB18	Ankyrin repeat and SOCS box protein 18	Homo sapiens (Human)	PR
Q9CZK6	Anks3	Ankyrin repeat and SAM domain-containing protein 3	Mus musculus (Mouse)	PR
P25799	Nfkb1	Nuclear factor NF-kappa-B p105 subunit [Cleaved into: Nuclear factor NF-kappa-B p50 subunit]	Mus musculus (Mouse)	EV
Q8VHA6	Asb18	Ankyrin repeat and SOCS box protein 18	Mus musculus (Mouse)	PR
Q9WTK5	Nfkb2	Nuclear factor NF-kappa-B p100 subunit [Cleaved into: Nuclear factor NF-kappa-B p52 subunit]	Mus musculus (Mouse)	EV
Q9TZM3	lrk-1	Leucine-rich repeat serine/threonine-protein kinase 1	Caenorhabditis elegans	SS
O22265	CAO	Signal recognition particle 43 kDa protein, chloroplastic	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SZI3	NPR2	Regulatory protein NPR2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MPGVANSGPS	TSSRETANPC	SRKKVHFGSI	HDAVRAGDVK	QLSEIVCLHW	LLWHGADITH
70	80	90	100	110	120
VTTRGWTASH	IAAIRGQDAC	VQALIMNGAN	LTAQDDRGCT	PLHLAATHGH	SFTLQIMLRS
130	140	150	160	170	180
GVDPSVTDKR	EWRPVHYAAF	HGRLGCLQLL	VKWGCSIEDV	DYNGNLPVHL	AAMEGHLHCF
190	200	210	220	230	240
KFLVSRMSSA	TQVLKAFNDN	GENVLDLAQR	FFKQNILQFI	QGAEYEGKDL	EDQETLAFPG
250	260	270	280	290	300
HVAAFKGDLG	MLKKLVEDGV	ININERADNG	STPMHKAAGQ	GHIECLQWLI	KMGADSNITN
310	320	330	340	350	360
KAGERPSDVA	KRFAHLAAVK	LLEELQKYDI	DDENEIDEND	VKYFIRHGVE	GSTDAKDDLC
370	380
LSDLDKTDAR	RPSKNCRASW	SMNDYVEKN