AiPD: Autoinhibited Protein Database

Q13123

Gene name	IK (RED)
Protein name	Protein Red
Names	Cytokine IK, IK factor, Protein RER
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3550
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

292-367 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

292-367 (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

4 structures for Q13123

Entry ID	Method	Resolution	Chain	Position	Source
5O9Z	EM	450 A	R	1-557	PDB
6Q8I	X-ray	317 A	C/D/G/H/K/L/O/P	1-557	PDB
8QO9	EM	529 A	x/y	1-557	PDB
AF-Q13123-F1	Predicted				AlphaFoldDB

298 variants for Q13123

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA361217493 rs1211272992	2	P>L		No	ClinGen TOPMed gnomAD
CA361217491 rs1211272992	2	P>R		No	ClinGen TOPMed gnomAD
rs1334139732 CA361217487	2	P>S		No	ClinGen gnomAD
CA128353999 rs905111941	6	S>G		No	ClinGen TOPMed gnomAD
rs1302163722 CA361217824	6	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs953359713 CA128354771	7	E>K		No	ClinGen TOPMed
CA3442703 rs568203403	8	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs750145463 CA361217937	11	N>I		No	ClinGen ExAC TOPMed gnomAD
rs750145463 CA3442705	11	N>T		No	ClinGen ExAC TOPMed gnomAD
CA361217949 rs1322312376	12	P>A		No	ClinGen TOPMed
CA361217948 rs1322312376	12	P>T		No	ClinGen TOPMed
rs1215642067 CA361217996	13	L>F		No	ClinGen gnomAD
rs761373849 CA128354783	13	L>S		No	ClinGen Ensembl
CA361218008 rs1260723785	14	A>D		No	ClinGen TOPMed
rs1260723785 CA361218012	14	A>V		No	ClinGen TOPMed
rs112540800 CA128354786	15	P>H		No	ClinGen Ensembl
rs1259518876 CA361218060	16	D>E		No	ClinGen gnomAD
CA361218034 rs1157877405	16	D>N		No	ClinGen TOPMed gnomAD
CA361218086 rs1270106237	18	H>R		No	ClinGen TOPMed
rs1429135555 CA361218117	19	D>G		No	ClinGen TOPMed
rs371475390 CA3442706	20	V>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA3442707 rs371475390	20	V>M		No	ClinGen 1000Genomes ESP ExAC gnomAD
TCGA novel	21	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1194357416 CA361218150	21	D>V		No	ClinGen gnomAD
CA3442709 rs768597912	23	P>T		No	ClinGen ExAC TOPMed gnomAD
rs781015374 CA3442710	24	H>Q		No	ClinGen ExAC gnomAD
CA361218186 rs1180247216	24	H>Y		No	ClinGen gnomAD
CA128354806 rs866393564	25	S>P		No	ClinGen Ensembl
rs1399922714 CA361218257	26	F>C		No	ClinGen gnomAD
rs1457956162 CA361218281	27	H>R		No	ClinGen gnomAD
CA3442712 rs770035364	27	H>Y		No	ClinGen ExAC gnomAD
CA361219346 rs1202721116	42	T>S		No	ClinGen TOPMed
rs1403013102 CA361219395	45	A>S		No	ClinGen gnomAD
rs755357879 CA3442743	45	A>V		No	ClinGen ExAC gnomAD
CA128357156 rs998430596	48	T>I		No	ClinGen Ensembl
rs1305837242 CA361219476	50	A>V		No	ClinGen gnomAD
CA3442745 rs762473306	51	P>L		No	ClinGen ExAC gnomAD
rs1290724337 CA361219502	52	P>L		No	ClinGen TOPMed
CA3442746 rs766033598	53	S>F		No	ClinGen ExAC TOPMed gnomAD
CA361219553 rs1355747237	56	R>C		No	ClinGen gnomAD
CA3442748 rs754800985	56	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1561973345 CA361219567	57	H>D		No	ClinGen Ensembl
CA361219588 rs1444734109	58	H>R		No	ClinGen TOPMed gnomAD
rs1333895891 CA361220328	62	R>G		No	ClinGen gnomAD
rs1293835573 CA361220341	63	E>K		No	ClinGen gnomAD
CA3442771 rs764096987	65	N>D		No	ClinGen ExAC TOPMed gnomAD
CA3442772 rs753863619	65	N>S		No	ClinGen ExAC gnomAD
CA3442773 rs757351893	66	E>A		No	ClinGen ExAC gnomAD
TCGA novel	71	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1250322713 CA361220548	73	R>*		No	ClinGen gnomAD
rs755878332 CA3442776	73	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA128357536 rs17854679	76	K>*		No	ClinGen Ensembl
rs1450743028 CA361220601	77	K>R		No	ClinGen TOPMed
rs755839583 CA128358307	81	Y>*		No	ClinGen Ensembl
rs1381799078 CA361220869 COSM1210449	85	R>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs764043917 CA3442791	88	E>G		No	ClinGen ExAC gnomAD
CA361220988 rs1271864878	92	E>D		No	ClinGen TOPMed gnomAD
rs765255036 CA3442799	92	E>G		No	ClinGen ExAC gnomAD
rs761591122 CA3442798	92	E>Q		No	ClinGen ExAC gnomAD
CA361221010 rs1374766793	94	E>A		No	ClinGen TOPMed gnomAD
CA361221047 rs1335961467	97	E>G		No	ClinGen TOPMed
CA361221182 rs1432847539	110	V>M		No	ClinGen gnomAD
rs1381189118 CA361221343	124	A>V		No	ClinGen gnomAD
rs867256522 CA128358393	125	N>K		No	ClinGen Ensembl
CA128358391 rs201000898	125	N>S		No	ClinGen 1000Genomes
rs1292932554 CA361221376	128	A>T		No	ClinGen gnomAD
rs748476681 CA3442802	135	A>V		No	ClinGen ExAC gnomAD
rs1336986204 CA361221541	138	S>*		No	ClinGen gnomAD
TCGA novel	140	A>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3442833 rs769701308	142	K>R		No	ClinGen ExAC gnomAD
CA361221606 rs1206346918	145	Q>*		No	ClinGen gnomAD
rs1233190153 CA361221637	148	Q>*		No	ClinGen gnomAD
TCGA novel	161	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762821906 CA3442835	162	L>M		No	ClinGen ExAC gnomAD
TCGA novel	163	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1163635836 CA361222227	164	K>R		No	ClinGen gnomAD
CA128359210 rs200939673	173	K>R		No	ClinGen 1000Genomes
rs201887185 CA3442849	175	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1377790128 CA361222503	175	R>Q	Variant assessed as Somatic; 5.099e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361222571 rs772995921	179	A>S		No	ClinGen ExAC TOPMed gnomAD
CA3442851 rs772995921	179	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	179	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200201511 CA128359658	180	S>C		No	ClinGen 1000Genomes
CA3442852 rs749109847	180	S>I		No	ClinGen ExAC gnomAD
CA128359668 rs868619559	182	E>*		No	ClinGen Ensembl
rs774318672 CA3442854	184	E>G		No	ClinGen ExAC gnomAD
rs1003175656 CA128359715	191	K>R		No	ClinGen Ensembl
rs1235142388 CA361222808	192	P>S		No	ClinGen TOPMed
CA361222919 rs1198682622	197	K>R		No	ClinGen TOPMed
CA361223018 rs1463166046	201	D>A		No	ClinGen gnomAD
rs770748197 CA3442873	201	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1463166046 CA361223019	201	D>G		No	ClinGen gnomAD
CA3442872 rs749057350	201	D>N		No	ClinGen ExAC gnomAD
rs377695058 CA128359841	206	I>T		No	ClinGen ESP
CA361223115 rs1469174120	207	E>*		No	ClinGen gnomAD
rs745863191 CA3442875	210	T>A		No	ClinGen ExAC gnomAD
CA361223170 rs745863191	210	T>P		No	ClinGen ExAC gnomAD
rs1471475792 CA361223192	211	R>C		No	ClinGen gnomAD
CA3442876 rs771915599	211	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1045383956 CA128360833	214	R>C		No	ClinGen TOPMed gnomAD
CA361223331 rs1242074762	214	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361223332 rs1242074762	214	R>L		No	ClinGen gnomAD
CA3442891 rs757032334	215	N>S		No	ClinGen ExAC gnomAD
CA3442893 rs115117298	218	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1274507205 CA361223366 COSM1061736	218	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1482396558 CA361223374	219	M>V		No	ClinGen gnomAD
CA361223420 rs1190135809	223	S>N		No	ClinGen gnomAD
CA361223478 rs772004082	228	R>L		No	ClinGen ExAC TOPMed gnomAD
rs772004082 CA361223477	228	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3442894 rs772004082	228	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1375053546 CA361223483	229	N>T		No	ClinGen TOPMed gnomAD
rs779907524 CA3442895	231	L>S		No	ClinGen ExAC gnomAD
CA361223529 rs1436446769	234	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs564309430 CA3442898	236	R>C		No	ClinGen 1000Genomes ExAC gnomAD
COSM245013 CA3442899 rs762071967	236	R>H	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA128360868 rs17850991	238	A>T		No	ClinGen Ensembl
CA361223574 rs1297248138	239	Y>C		No	ClinGen gnomAD
CA361223622 rs1322118608	243	L>R		No	ClinGen TOPMed
CA361223637 rs1288972560	244	D>E		No	ClinGen TOPMed
rs1297395608 CA361223659	246	E>D		No	ClinGen gnomAD
CA361223754 rs1303692959	256	L>P		No	ClinGen gnomAD
rs1482956022 CA361223766	257	I>T		No	ClinGen TOPMed gnomAD
rs1198846347 CA361223771	258	R>C		No	ClinGen gnomAD
COSM1195116 rs760224879 CA3442905	258	R>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1188182029 CA361223787	259	S>R		No	ClinGen TOPMed gnomAD
CA3442919 rs749631304	268	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1161213175 CA361224147	268	A>S		No	ClinGen gnomAD
CA361224149 rs749631304	268	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3442921 rs774905279	270	T>A		No	ClinGen ExAC gnomAD
CA3442923 rs375224727	272	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	276	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361224243 rs1367364972	279	I>L		No	ClinGen gnomAD
CA361224261 rs1245990890	280	S>R		No	ClinGen TOPMed
CA3442928 rs758198998	294	R>C		No	ClinGen ExAC gnomAD
COSM1186849 rs1227914796 CA361224415	296	K>R	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs778011691 CA3442929	298	L>V		No	ClinGen ExAC TOPMed gnomAD
rs751377977 CA3442930	301	K>R		No	ClinGen ExAC gnomAD
CA361225246 rs1180873950	307	E>K		No	ClinGen gnomAD
TCGA novel CA3442948 rs759456452	308	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs1581484671 CA361225311	310	K>N		No	ClinGen Ensembl
rs34282994 CA3442949	310	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361225326 rs1170945307	311	P>L		No	ClinGen TOPMed gnomAD
CA361225319 rs1469813292	311	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	312	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA128363592 rs962738430	315	D>A		No	ClinGen TOPMed
TCGA novel	315	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777652761 CA3442953	316	M>I		No	ClinGen ExAC gnomAD
rs756246130 CA3442952	316	M>V		No	ClinGen ExAC gnomAD
CA361225493 rs1478018161	318	I>V		No	ClinGen TOPMed
rs752550231 CA3442968	319	F>S		No	ClinGen ExAC gnomAD
CA361225533 rs1244447241	321	D>H		No	ClinGen TOPMed
rs34433858 CA3442969	322	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361225593 rs1206513525	324	D>V		No	ClinGen TOPMed
CA128363821 rs376361279	326	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs757405368 CA3442973	327	P>H		No	ClinGen ExAC TOPMed gnomAD
rs757405368 CA128363865	327	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1581484805 TCGA novel CA361225654	328	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA361225661 rs1230719296	329	T>A		No	ClinGen TOPMed
CA128363884 rs201357475	332	T>A		No	ClinGen 1000Genomes
CA3442975 rs750704406	332	T>I		No	ClinGen ExAC TOPMed gnomAD
rs758632408 CA361225727	334	R>G		No	ClinGen ExAC TOPMed gnomAD
rs367909137 CA3442977	334	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3442976 rs758632408	334	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1361240998 CA361225737	335	D>N		No	ClinGen TOPMed
rs755395781 CA3442979	338	R>Q		No	ClinGen ExAC gnomAD
CA3442978 rs747409491	338	R>W		No	ClinGen ExAC gnomAD
rs781748395 CA3442980	339	E>K		No	ClinGen ExAC TOPMed gnomAD
CA917594993 rs1561979216	341	Y>*		No	ClinGen Ensembl
CA361225838 rs1432626465	341	Y>D		No	ClinGen TOPMed gnomAD
rs770538442 CA3442982	341	Y>F		No	ClinGen ExAC gnomAD
CA361225859 rs745456401	342	R>G		No	ClinGen ExAC gnomAD
rs1273038525 CA361225863	342	R>Q		No	ClinGen gnomAD
CA3442984 rs745456401	342	R>W		No	ClinGen ExAC gnomAD
rs199525545 CA3442985	344	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs971205274 CA128363938	344	R>W		No	ClinGen TOPMed gnomAD
CA3442986 rs375642434	345	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA3442988 rs200709351	346	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs538502414 COSM1061738 CA3442989	346	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs773175710 CA361225957	348	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1197697130 CA361225961	348	R>Q		No	ClinGen gnomAD
rs773175710 CA3442990	348	R>W		No	ClinGen ExAC TOPMed gnomAD
CA361225979 rs1270953242	349	E>A		No	ClinGen TOPMed gnomAD
CA128363988 rs955531238	350	R>G		No	ClinGen TOPMed
CA3442991 rs765243835	351	D>E		No	ClinGen ExAC gnomAD
rs758451409 COSM1567481 CA128364006	354	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1473597709 CA361226053	354	R>H		No	ClinGen gnomAD
COSM1433650 rs1561979301 CA361226070	355	D>E	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs750508668 CA3442995 COSM1210450	356	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs964221015 CA128364021	356	R>Q		No	ClinGen TOPMed
CA3442997 rs374512839	357	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs751849375 CA3442998	358	R>*		No	ClinGen ExAC
CA361226109 rs1442495821	358	R>L		No	ClinGen gnomAD
CA361226121 rs1404573629	359	E>G		No	ClinGen gnomAD
TCGA novel	360	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3442999 rs755415259	360	R>Q		No	ClinGen ExAC gnomAD
rs571901717 CA3443000	362	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368676150 CA128364045	364	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1246484640 CA361226181	364	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3443002 rs368676150	364	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA3443003 rs756590607	366	R>*		No	ClinGen ExAC TOPMed gnomAD
CA361226210 rs756590607	366	R>G		No	ClinGen ExAC TOPMed gnomAD
rs778496791 CA3443004	366	R>Q		No	ClinGen ExAC gnomAD
rs946918630 CA128364050	368	R>*		No	ClinGen Ensembl
CA3443005 rs745401397	368	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3443006 rs771800073	370	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA361226268 rs1484354553	370	R>W		No	ClinGen gnomAD
rs1471666838 COSM3826926 CA361226295	371	D>E	Variant assessed as Somatic; 4.721e-05 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs775332024 CA3443007	372	R>*		No	ClinGen ExAC gnomAD
rs746748598 CA3443008 COSM1433651	372	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1472324768 CA361226305	373	E>K		No	ClinGen gnomAD
rs768554843 CA3443009	374	R>T		No	ClinGen ExAC TOPMed gnomAD
CA361226353 rs371878998	375	E>D		No	ClinGen ESP ExAC TOPMed
CA361226345 rs1482709379	375	E>G		No	ClinGen TOPMed
rs1463461695 CA361226375	377	E>*		No	ClinGen gnomAD
CA361226428 rs1203133998	380	R>T		No	ClinGen TOPMed
rs761745655 CA3443011	381	H>D		No	ClinGen ExAC gnomAD
rs765191103 CA3443012	381	H>Q		No	ClinGen ExAC gnomAD
CA128364093 rs923634560	381	H>R		No	ClinGen TOPMed
rs1368107787 CA361226454	382	S>N		No	ClinGen gnomAD
CA128364115 rs1046467794	382	S>R		No	ClinGen Ensembl
rs773231195 CA3443013	383	Y>N		No	ClinGen ExAC gnomAD
CA361226483 rs1334372462	384	F>L		No	ClinGen gnomAD
CA361226527 rs1339577075	387	P>L		No	ClinGen TOPMed gnomAD
rs763071901 CA3443014	389	V>L		No	ClinGen ExAC TOPMed gnomAD
rs934168595 CA128364152	391	D>H		No	ClinGen TOPMed
CA361226576 rs934168595	391	D>N		No	ClinGen TOPMed
rs1313295756 CA361226606	392	E>D		No	ClinGen gnomAD
rs1230230454 COSM266697 CA361226668	393	P>S	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA128364297 rs898507786	394	M>V		No	ClinGen TOPMed gnomAD
CA3443032 rs773176317	396	V>I		No	ClinGen ExAC TOPMed gnomAD
CA361226734 rs1199734820	397	D>G		No	ClinGen gnomAD
CA3443033 rs763020609	397	D>N		No	ClinGen ExAC TOPMed gnomAD
CA361226757 rs1187775894 COSM1210451	398	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3443046 rs751063852	399	G>E		No	ClinGen ExAC TOPMed gnomAD
CA3443047 rs751063852	399	G>V		No	ClinGen ExAC TOPMed gnomAD
rs375705668 CA128364601	402	S>C		No	ClinGen ESP TOPMed gnomAD
rs369801270 CA3443048	403	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs747908585 CA3443049	403	T>N		No	ClinGen ExAC gnomAD
CA361226905 rs1294600977	404	K>M		No	ClinGen gnomAD
rs1351055759 CA361226920	405	E>*		No	ClinGen TOPMed
CA361226925 rs1308649279	405	E>V		No	ClinGen TOPMed
CA3443051 rs777676879	406	L>F		No	ClinGen ExAC gnomAD
COSM4141447 CA361226973 rs1429187117	408	K>E	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1351192431 CA361227005	410	I>V		No	ClinGen gnomAD
rs770856084 CA3443053	411	N>S		No	ClinGen ExAC TOPMed gnomAD
CA361227094 rs1458652360	415	A>T		No	ClinGen TOPMed
CA3443054 rs774447924	415	A>V		No	ClinGen ExAC gnomAD
rs1468955115 CA361227136	417	S>F		No	ClinGen gnomAD
rs1163269110 CA361227142	418	A>T		No	ClinGen TOPMed
CA3443056 rs772314720	418	A>V		No	ClinGen ExAC gnomAD
rs1473830891 CA361227161	419	G>A		No	ClinGen TOPMed
CA128364670 rs199572934	420	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1264788329 CA361227197	421	E>A		No	ClinGen gnomAD
TCGA novel	424	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3443088 rs753605424	427	K>R		No	ClinGen ExAC gnomAD
TCGA novel	428	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361227414 rs1212753472	429	P>L		No	ClinGen gnomAD
CA3443091 rs745849675	431	D>E		No	ClinGen ExAC TOPMed gnomAD
rs778903214 CA3443090	431	D>G		No	ClinGen ExAC gnomAD
CA3443092 rs374359094	435	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	440	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361228367 rs1460232815	441	M>T		No	ClinGen TOPMed gnomAD
CA361228390 rs1169974673	443	N>D		No	ClinGen TOPMed
rs768978925 CA3443095	443	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1184491741 CA361228428	446	A>S		No	ClinGen TOPMed
CA128365389 rs11545290	455	D>H		No	ClinGen Ensembl
CA128365397 rs202047315	458	V>A		No	ClinGen 1000Genomes
CA361228593 rs1581485997	460	S>R		No	ClinGen Ensembl
rs948895936 CA128365403	461	D>G		No	ClinGen TOPMed
rs1581486002 CA361228622	464	V>G		No	ClinGen Ensembl
CA361228636 rs1416882173	466	Y>F		No	ClinGen TOPMed
rs750163427 CA3443126	476	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1246553431 CA361228735	477	P>L		No	ClinGen gnomAD
CA3443127 rs762847525	481	W>*		No	ClinGen ExAC TOPMed gnomAD
rs751608243 CA3443129	484	D>E		No	ClinGen ExAC gnomAD
CA128365834 rs891583836	484	D>G		No	ClinGen TOPMed
rs1561981483 CA361228845	492	Y>H		No	ClinGen Ensembl
rs1196521928 CA361228865	494	N>S		No	ClinGen gnomAD
TCGA novel	498	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361228893 rs1436231563	498	A>T		No	ClinGen gnomAD
CA361228897 rs1189883338	498	A>V		No	ClinGen gnomAD
rs781358238 CA3443131	501	K>R		No	ClinGen ExAC gnomAD
TCGA novel	510	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	518	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1335069173 CA361229061	520	K>R		No	ClinGen gnomAD
CA3443146 rs774295572	523	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1324739385 CA361229086	524	D>N		No	ClinGen gnomAD
rs1049399958 CA128365936	526	A>V		No	ClinGen TOPMed
rs767580763 CA3443148	530	R>L		No	ClinGen ExAC gnomAD
CA3443149 rs752693823	531	Q>*		No	ClinGen ExAC gnomAD
rs756254920 CA3443150	535	I>M		No	ClinGen ExAC gnomAD
rs770743190 CA3443164	539	I>F		No	ClinGen ExAC gnomAD
CA128366144 rs745704071	551	E>*		No	ClinGen TOPMed gnomAD
rs765492006 CA3443173	553	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361229326 rs1561981910	554	R>*		No	ClinGen Ensembl
CA3443174 rs750755685	555	P>L		No	ClinGen ExAC gnomAD
rs1480068900 CA361229337	556	K>E		No	ClinGen gnomAD
TCGA novel	557	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q13123

2 regional properties for Q13123

Type	Name	Position	InterPro Accession
domain	Fibronectin type III	11 - 121	IPR003961
domain	Interferon/interleukin receptor domain	123 - 218	IPR015373

Functions

		Description
EC Number
Subcellular Localization	Nucleus Nucleus, nucleoplasm Chromosome Cytoplasm, cytoskeleton, spindle pole	Predominantly present throughout the nucleoplasm during prometaphase, metaphase and anaphase Is also detected in nuclear foci that are not identical with Cajal bodies Starts to accumulate at chromosomes during telophase, and is nearly exclusively associated with chromosomes in newly divided cells (PubMed:24252166) Colocalizes with MAD1L1 at mitotic spindle poles during metaphase and anaphase (PubMed:22351768)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
chromosome	A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
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.
spindle pole	Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules.
U2-type precatalytic spliceosome	A spliceosomal complex that is formed by the recruitment of the preassembled U4/U6.U5 tri-snRNP to the prespliceosome. Although all 5 snRNPs are present, the precatalytic spliceosome is catalytically inactive. The precatalytic spliceosome includes many proteins in addition to those found in the U1, U2 and U4/U6.U5 snRNPs.

1 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.

4 GO annotations of biological process

Name	Definition
mitotic cell cycle	Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent.
mitotic spindle assembly checkpoint signaling	A signal transduction process that contributes to a mitotic cell cycle spindle assembly checkpoint, that delays the metaphase/anaphase transition of a mitotic nuclear division until the spindle is correctly assembled and chromosomes are attached to the spindle.
mRNA splicing, via spliceosome	The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced.
protein localization to kinetochore	Any process in which a protein is transported to, or maintained at, the kinetochore.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MPERDSEPFS	NPLAPDGHDV	DDPHSFHQSK	LTNEDFRKLL	MTPRAAPTSA	PPSKSRHHEM
70	80	90	100	110	120
PREYNEDEDP	AARRRKKKSY	YAKLRQQEIE	RERELAEKYR	DRAKERRDGV	NKDYEETELI
130	140	150	160	170	180
STTANYRAVG	PTAEADKSAA	EKRRQLIQES	KFLGGDMEHT	HLVKGLDFAL	LQKVRAEIAS
190	200	210	220	230	240
KEKEEEELME	KPQKETKKDE	DPENKIEFKT	RLGRNVYRML	FKSKAYERNE	LFLPGRMAYV
250	260	270	280	290	300
VDLDDEYADT	DIPTTLIRSK	ADCPTMEAQT	TLTTNDIVIS	KLTQILSYLR	QGTRNKKLKK
310	320	330	340	350	360
KDKGKLEEKK	PPEADMNIFE	DIGDYVPSTT	KTPRDKERER	YRERERDRER	DRDRDRERER
370	380	390	400	410	420
ERDRERERER	DREREEEKKR	HSYFEKPKVD	DEPMDVDKGP	GSTKELIKSI	NEKFAGSAGW
430	440	450	460	470	480
EGTESLKKPE	DKKQLGDFFG	MSNSYAECYP	ATMDDMAVDS	DEEVDYSKMD	QGNKKGPLGR
490	500	510	520	530	540
WDFDTQEEYS	EYMNNKEALP	KAAFQYGIKM	SEGRKTRRFK	ETNDKAELDR	QWKKISAIIE
550
KRKKMEADGV	EVKRPKY