AiPD: Autoinhibited Protein Database

Q9UJU2

Gene name	LEF1
Protein name	Lymphoid enhancer-binding factor 1
Names	LEF-1, T cell-specific transcription factor 1-alpha, TCF1-alpha
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51176
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

163-237 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

163-237 (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 Q9UJU2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UJU2-F1	Predicted				AlphaFoldDB

276 variants for Q9UJU2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA035430 RCV000015459 rs267607214	45	E>K	Sebaceous tumors, somatic Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP
rs267607215 CA035634 RCV000015459	61	S>P	Sebaceous tumors, somatic [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA3038123 rs757830628	2	P>L		No	ClinGen ExAC TOPMed gnomAD
CA357978460 rs1453658529	4	L>V		No	ClinGen gnomAD
rs1161381377 CA357978452	5	S>A		No	ClinGen gnomAD
rs1457980670 CA357978448	6	G>R		No	ClinGen gnomAD
rs1042136043 CA103584951	7	G>R		No	ClinGen TOPMed gnomAD
CA3038117 rs759797405	10	G>S		No	ClinGen ExAC gnomAD
CA3038116 rs774434854	12	G>A		No	ClinGen ExAC TOPMed gnomAD
rs769814612 CA3038111	14	D>G		No	ClinGen ExAC
rs773206632 CA3038113	14	D>H		No	ClinGen ExAC TOPMed gnomAD
CA103584950 rs967933796	15	P>L		No	ClinGen TOPMed
CA357978391 rs1209992384	16	E>Q		No	ClinGen gnomAD
CA357978361 rs1329459182	20	T>K		No	ClinGen gnomAD
CA3038109 rs776607345	23	M>I		No	ClinGen ExAC TOPMed gnomAD
CA103584949 rs987519271	23	M>V		No	ClinGen Ensembl
rs201163073 CA357978327	25	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3038108 rs201163073	25	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs985349016 CA103584948	31	D>E		No	ClinGen TOPMed gnomAD
rs779512732 CA3038106	31	D>H		No	ClinGen ExAC gnomAD
rs1264436196 CA357978269	33	Q>R		No	ClinGen TOPMed
rs1435848098 CA357978244	36	K>M		No	ClinGen gnomAD
CA357978240 rs1393797341	37	I>V		No	ClinGen gnomAD
CA357978224 rs1235598508	39	A>S		No	ClinGen TOPMed
CA3038103 COSM1049895 rs778363288	40	E>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1427864631 CA357978204	42	S>N		No	ClinGen TOPMed gnomAD
rs756658779 CA3038102	42	S>R		No	ClinGen ExAC gnomAD
CA357978203 rs1427864631	42	S>T		No	ClinGen TOPMed gnomAD
CA3038101 rs201622857	44	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1189976183 CA357978187	44	P>L		No	ClinGen gnomAD
rs781608580 CA3038100	45	E>D		No	ClinGen ExAC TOPMed gnomAD
CA103584947 rs267607214	45	E>Q		No	ClinGen TOPMed
CA357978175 rs1404664164	46	E>D		No	ClinGen TOPMed
TCGA novel	46	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	49	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357978140 rs1415048582	51	A>G		No	ClinGen TOPMed
CA357978104 rs1251819558	56	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA357978083 rs1394592922	59	N>K		No	ClinGen gnomAD
rs1207767576 CA357978076	60	E>D		No	ClinGen TOPMed gnomAD
rs1402160080 CA357978048	64	I>M		No	ClinGen gnomAD
rs755324215 CA3038099	65	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1299152890 CA357978024	68	N>S		No	ClinGen TOPMed
CA357978019 rs1227084249	69	G>R		No	ClinGen gnomAD
CA3038097 rs547808066	70	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs141061981 CA3038096	71	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA357977951 rs1281555729	73	A>V		No	ClinGen TOPMed
CA3038056 rs757441044	75	Q>R		No	ClinGen ExAC gnomAD
rs998821805 CA103584675	79	S>F		No	ClinGen TOPMed
CA3038055 rs753918551	80	Q>E		No	ClinGen ExAC gnomAD
CA3038054 rs764243792	80	Q>R		No	ClinGen ExAC gnomAD
CA357977904 rs1198332205	81	E>Q		No	ClinGen TOPMed
rs61752607 CA357977874	85	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	85	D>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs61752607 RCV000953715 CA3038052	85	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA357977867 rs1191927030	86	K>E		No	ClinGen TOPMed
CA3038050 rs759319967	87	A>D		No	ClinGen ExAC gnomAD
CA3038051 rs767277376	87	A>P		No	ClinGen ExAC gnomAD
CA3038048 rs765976937	89	E>K		No	ClinGen ExAC gnomAD
CA3038047 rs762473612	90	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA3038045 rs776698886	91	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA103584674 rs776698886	91	P>L		No	ClinGen ExAC gnomAD
CA3038046 rs772758213	91	P>S		No	ClinGen ExAC gnomAD
rs1007208937 CA103584673	92	D>N		No	ClinGen TOPMed gnomAD
rs762634018 CA3038029	94	G>A		No	ClinGen ExAC gnomAD
rs200139061 CA3038042	94	G>R		No	ClinGen 1000Genomes ExAC gnomAD
COSM404622 rs150539494 CA3038028	95	K>R	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA357977791 rs1222546909	96	H>P		No	ClinGen gnomAD
CA357977788 rs1490466736	96	H>Q		No	ClinGen gnomAD
CA357977779 rs1273634500	98	D>H		No	ClinGen gnomAD
TCGA novel	99	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1196942311 CA357977762	100	G>D		No	ClinGen TOPMed
CA3038025 rs775891624	101	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1030916424 CA103584554	101	L>V		No	ClinGen Ensembl
CA103584553 rs1033894964	102	Y>C		No	ClinGen TOPMed gnomAD
rs76996680 CA3038023	106	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774892174 CA3038021	107	S>C		No	ClinGen ExAC gnomAD
TCGA novel	107	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3038019 rs749582963	108	Y>C		No	ClinGen ExAC
CA357977716 rs1367264120	108	Y>H		No	ClinGen TOPMed
CA357977714 rs749582963	108	Y>S		No	ClinGen ExAC
rs777997623 CA3038018	109	S>L		No	ClinGen ExAC TOPMed gnomAD
CA103584550 rs889847505	111	Y>F		No	ClinGen TOPMed gnomAD
VAR_035935 rs369649181 COSM32392 CA3038015	113	G>R	large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1336332414 CA357977679	114	Y>N		No	ClinGen TOPMed
rs754959962 CA3038014	115	I>L		No	ClinGen ExAC TOPMed gnomAD
rs754959962 CA357977670	115	I>V		No	ClinGen ExAC TOPMed gnomAD
CA357977658 rs1472384927	116	M>I		No	ClinGen gnomAD
CA357977661 rs1192053657	116	M>T		No	ClinGen TOPMed gnomAD
CA3038013 rs751467556	117	M>I		No	ClinGen ExAC TOPMed gnomAD
CA357977654 rs1250817913	117	M>L		No	ClinGen TOPMed gnomAD
CA103584547 rs918846256	117	M>T		No	ClinGen Ensembl
CA357977656 rs1250817913	117	M>V		No	ClinGen TOPMed gnomAD
CA3038011 rs758130054	123	D>N		No	ClinGen ExAC TOPMed gnomAD
CA103584545 rs944634194	124	P>Q		No	ClinGen TOPMed
rs750080151 CA3038010	124	P>S		No	ClinGen ExAC gnomAD
TCGA novel	124	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357977584 rs1327981446	126	M>I		No	ClinGen gnomAD
CA3038008 rs375600337	126	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	131	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs554465464 CA3038007	132	S>P		No	ClinGen 1000Genomes ExAC gnomAD
CA357977545 rs1412024016	133	P>A		No	ClinGen gnomAD
CA3038006 rs370283692	135	I>L		No	ClinGen ESP ExAC
CA3038004 rs148458632	136	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148458632 CA3038005	136	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1048060629 CA103584544	136	P>T		No	ClinGen TOPMed gnomAD
TCGA novel	137	R>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1538862 rs769759622 COSM1538861 CA103584543	137	R>K	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA3038001 rs201776417	138	T>I		No	ClinGen 1000Genomes ExAC gnomAD
COSM363987 CA3038002 rs201776417	138	T>R	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA357841006 rs1184099820	140	N>K		No	ClinGen gnomAD
CA3037981 rs765488626	141	K>E		No	ClinGen ExAC
CA3037979 rs200951346	144	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA102880689 rs200951346	144	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3037978 rs141850161	145	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766355407 CA3037977	146	Q>E		No	ClinGen ExAC gnomAD
CA3037975 rs772045871	150	A>T		No	ClinGen ExAC gnomAD
rs199515145 CA3037974	150	A>V	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs978384163 CA102880688	151	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA357840945 rs1578328414	151	V>I		No	ClinGen Ensembl
CA357840928 rs1578328395	153	P>R		No	ClinGen Ensembl
rs1578328387 CA357840916	155	T>S		No	ClinGen Ensembl
CA357840910 rs1390221574	156	P>H		No	ClinGen gnomAD
CA3037972 rs756986755	156	P>S		No	ClinGen ExAC gnomAD
CA3037971 rs555674649	157	L>I		No	ClinGen ExAC TOPMed gnomAD
rs555674649 CA102880687	157	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	159	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755719300 CA3037969	160	Y>*		No	ClinGen ExAC gnomAD
rs141659676 CA357840871	162	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs138774973 CA3037966	163	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	164	H>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357840858 rs1387790447	164	H>R		No	ClinGen gnomAD
CA3037965 rs138504619	168	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA357840830 rs138504619	168	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773360376 CA102880683	171	P>A		No	ClinGen Ensembl
CA3037962 rs200236123	171	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	172	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1292949910 CA357840801	173	H>R		No	ClinGen TOPMed gnomAD
CA3037960 rs760864275	174	I>V		No	ClinGen ExAC gnomAD
CA357840788 rs1340584903	175	P>L		No	ClinGen gnomAD
CA3037959 rs775583955	177	D>G		No	ClinGen ExAC TOPMed gnomAD
CA102880682 rs775583955	177	D>V		No	ClinGen ExAC TOPMed gnomAD
rs142779919 CA3037957	178	V>I		No	ClinGen ESP ExAC TOPMed
rs1380318110 CA357840764	179	N>S		No	ClinGen TOPMed
rs1380318110 CA357840765	179	N>T		No	ClinGen TOPMed
CA357840760 rs1330566265	180	S>T		No	ClinGen gnomAD
TCGA novel	183	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1316672078 CA357840494	184	M>I		No	ClinGen TOPMed
rs35620964 CA3037935	184	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1170913501 CA357840495	184	M>R		No	ClinGen gnomAD
rs35620964 CA102879633	184	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	185	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770727941 CA3037934	187	H>R		No	ClinGen ExAC TOPMed gnomAD
CA102879630 rs771652005	188	P>L		No	ClinGen Ensembl
CA357840471 rs1429501592	188	P>T		No	ClinGen gnomAD
CA3037932 rs773185032	190	A>G		No	ClinGen ExAC gnomAD
TCGA novel	190	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3037931 rs769709054	192	D>G		No	ClinGen ExAC gnomAD
CA3037930 rs747868289	193	I>F		No	ClinGen ExAC TOPMed gnomAD
rs1442283587 CA357840425	195	T>I		No	ClinGen TOPMed gnomAD
rs1442283587 CA357840426	195	T>S		No	ClinGen TOPMed gnomAD
CA357840397 rs1461963031	199	L>F		No	ClinGen gnomAD
CA3037928 rs768217737	199	L>S		No	ClinGen ExAC gnomAD
rs572389569 CA3037927	201	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA102879613 rs113508132	202	G>A		No	ClinGen gnomAD
CA3037925 rs757744571	202	G>S		No	ClinGen ExAC gnomAD
rs754337474 CA3037924	203	G>D		No	ClinGen ExAC gnomAD
rs1239693866 CA357840374	204	V>F		No	ClinGen gnomAD
COSM1578590 COSM1578591 CA357840371 rs1261292608	204	V>G	meninges [Cosmic]	No	ClinGen cosmic curated TOPMed
CA357840375 rs1239693866	204	V>L		No	ClinGen gnomAD
rs1468699767 CA357840338	209	P>Q		No	ClinGen TOPMed
COSM585199 rs1194536526 CA357840336 COSM1143464	210	P>A	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1560777037 CA357840321	212	G>A		No	ClinGen Ensembl
rs756499364 CA3037904	221	I>F		No	ClinGen ExAC TOPMed gnomAD
rs756499364 CA357840062	221	I>V		No	ClinGen ExAC TOPMed gnomAD
rs371920870 CA3037903	222	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA357840009 rs1432465560	224	G>R		No	ClinGen gnomAD
CA357839916 rs1346549687	229	Y>C		No	ClinGen gnomAD
CA3037901 rs755199598	231	S>P		No	ClinGen ExAC gnomAD
rs561773931 CA3037900	232	S>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3037896 rs377048071	236	D>H		No	ClinGen ExAC TOPMed gnomAD
CA3037897 rs377048071	236	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1389645680 CA357839766	238	S>F		No	ClinGen gnomAD
CA357839751 rs1242951072	239	M>I		No	ClinGen gnomAD
CA3037894 rs368667634	239	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3037895 rs761818179 COSM732026	239	M>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA357839738 rs1198395468	240	S>F		No	ClinGen TOPMed gnomAD
rs1277064288 CA357839743	240	S>P		No	ClinGen gnomAD
CA3037871 rs373162182	241	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	242	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1342376014 CA357839158	243	S>P		No	ClinGen gnomAD
CA357839138 rs1578317288	244	H>R		No	ClinGen Ensembl
rs767105917 CA3037870	245	H>R		No	ClinGen ExAC gnomAD
CA357839130 rs1285614324	245	H>Y		No	ClinGen gnomAD
rs201925329 CA3037869	246	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	248	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1594185 CA3037867 COSM200874 rs146861754	249	G>S	large_intestine endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs748665571 CA3037866	252	G>D		No	ClinGen ExAC TOPMed gnomAD
CA357838963 rs1413007448	257	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1431667365 CA357838939	259	P>S		No	ClinGen gnomAD
CA3037865 rs777138887	260	H>R		No	ClinGen ExAC gnomAD
rs370901235 CA3037864	263	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA357838870 rs1410944927	265	T>A		No	ClinGen gnomAD
CA357838866 rs1428072231	265	T>I		No	ClinGen gnomAD
CA3037862 rs780448564	266	P>L		No	ClinGen ExAC gnomAD
CA102878659 rs886264865	267	Q>L		No	ClinGen TOPMed
TCGA novel	271	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772461379 CA3037861	271	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3037859 rs779191660	272	H>Q		No	ClinGen ExAC gnomAD
rs746081744 CA3037860	272	H>Y		No	ClinGen ExAC gnomAD
rs1328992248 CA357838816	273	P>T		No	ClinGen gnomAD
rs757354968 CA3037858	274	H>N		No	ClinGen ExAC gnomAD
CA357838799 rs1374631633	276	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM370131 rs539588877 CA102878651	278	D>E	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs752588282 CA3037854	280	M>R		No	ClinGen ExAC gnomAD
rs1456848062 CA357838747	281	H>R		No	ClinGen gnomAD
rs1337710007 CA357838752	281	H>Y		No	ClinGen gnomAD
rs113018313 CA102878643	282	V>A		No	ClinGen Ensembl
rs151041212 CA3037852	282	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200172564 CA3037804	285	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
COSM1149837 CA3037803 rs760096679	286	H>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1311779678 CA357838552	287	E>G		No	ClinGen gnomAD
CA102878407 rs973209927	287	E>K		No	ClinGen Ensembl
rs774894331 CA3037802	288	Q>E		No	ClinGen ExAC gnomAD
CA357838529 rs1578315412	289	R>K		No	ClinGen Ensembl
CA357838514 rs1347141613	290	K>R		No	ClinGen TOPMed gnomAD
CA357838467 rs1190785094	293	E>D		No	ClinGen TOPMed
rs551928999 CA3037800	293	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1194054389 CA357838461	294	P>S		No	ClinGen Ensembl
rs532317726 CA3037799	295	K>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	296	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357838433 rs1299335713	296	R>K		No	ClinGen gnomAD
rs769921446 CA357838430	296	R>S		No	ClinGen ExAC TOPMed gnomAD
CA357838417 rs1376752087	297	P>L		No	ClinGen gnomAD
TCGA novel	310	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA357838239 rs1182092286	313	M>T		No	ClinGen gnomAD
CA3037797 rs139854140	315	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1196415627 CA357838190	316	N>K		No	ClinGen TOPMed gnomAD
rs1418335558 CA357838197	316	N>S		No	ClinGen TOPMed
CA102878387 rs753687592	316	N>Y		No	ClinGen Ensembl
rs768632102 CA3037795	317	V>I		No	ClinGen ExAC gnomAD
rs779954245 CA3037793	318	V>I		No	ClinGen ExAC TOPMed gnomAD
CA357838156 rs1283614120	319	A>V		No	ClinGen gnomAD
CA357838084 rs1578315184	325	E>A		No	ClinGen Ensembl
TCGA novel	326	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	326	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	328	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	337	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3037771 rs770745649	338	H>R		No	ClinGen ExAC gnomAD
rs1445279707 CA357837410	339	A>V		No	ClinGen gnomAD
CA357837374 rs1445133819	342	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs200011152 CA3037768	342	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1538865 rs200011152 COSM1538866 CA357837367	342	R>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	344	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3037766 rs780385841	349	Y>F		No	ClinGen ExAC
rs1269291681 CA357837203	353	R>Q		No	ClinGen gnomAD
rs1359509909 COSM3380777 CA357837205 COSM3380778 COSM200871	353	R>W	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1032490478 CA102876531	355	E>G		No	ClinGen TOPMed gnomAD
CA357837118 rs1319328618	359	H>R		No	ClinGen gnomAD
TCGA novel	364	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3037759 rs760702658	365	G>D		No	ClinGen ExAC gnomAD
rs1578304478 CA357836933	371	N>S		No	ClinGen Ensembl
TCGA novel	372	Y>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	376	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	377	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752759132 CA3037740	378	R>K		No	ClinGen ExAC gnomAD
rs1201511307 CA357836206	381	E>G		No	ClinGen gnomAD
CA3037738 rs759447310	384	Q>*		No	ClinGen ExAC gnomAD
CA3037737 rs774375045	385	E>G		No	ClinGen ExAC TOPMed gnomAD
CA357836178 rs774375045	385	E>V		No	ClinGen ExAC TOPMed gnomAD
CA3037736 rs766282843	387	A>S		No	ClinGen ExAC TOPMed
rs773021504 CA102875090	388	S>P		No	ClinGen ExAC TOPMed gnomAD
rs773021504 CA3037734	388	S>T		No	ClinGen ExAC TOPMed gnomAD
rs149902954 CA102874931	389	G>D		No	ClinGen TOPMed gnomAD
CA3037713 rs776277632	391	G>R		No	ClinGen ExAC gnomAD
CA357836102 rs1442205489	396	A>T		No	ClinGen gnomAD
rs373961332 CA3037712	399	I>V		No	ClinGen ESP ExAC gnomAD

No associated diseases with Q9UJU2

2 regional properties for Q9UJU2

Type	Name	Position	InterPro Accession
domain	High mobility group box domain	298 - 368	IPR009071
domain	CTNNB1 binding, N-teminal	9 - 213	IPR013558

Functions

		Description
EC Number
Subcellular Localization	Nucleus	Found in nuclear bodies upon PIASG binding
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
beta-catenin-TCF complex	A protein complex that contains beta-catenin and a member of the T-cell factor (TCF)/lymphoid enhancer binding factor (LEF) family of transcription factors.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
protein-DNA complex	A macromolecular complex containing both protein and DNA molecules.
transcription regulator complex	A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.

20 GO annotations of molecular function

Name	Definition
armadillo repeat domain binding	Binding to an armadillo repeat domain, an approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity protein armadillo. Arm-repeat proteins are involved in various processes, including intracellular signalling and cytoskeletal regulation.
beta-catenin binding	Binding to a catenin beta subunit.
C2H2 zinc finger domain binding	Binding to a C2H2-type zinc finger domain of a protein. The C2H2 zinc finger is the classical zinc finger domain, in which two conserved cysteines and histidines co-ordinate a zinc ion.
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA binding, bending	The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence.
DNA-binding transcription activator activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor activity	A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription repressor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II.
gamma-catenin binding	Binding to catenin complex gamma subunit.
histone binding	Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription.
histone deacetylase binding	Binding to histone deacetylase.
nuclear estrogen receptor binding	Binding to a nuclear estrogen receptor.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
RNA polymerase II transcription regulatory region sequence-specific DNA binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.
sequence-specific DNA binding	Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.
transcription corepressor binding	Binding to a transcription corepressor, a protein involved in negative regulation of transcription via protein-protein interactions with transcription factors and other proteins that negatively regulate transcription. Transcription corepressors do not bind DNA directly, but rather mediate protein-protein interactions between repressing transcription factors and the basal transcription machinery.
transcription regulator inhibitor activity	A molecular function regulator that inhibits the activity of a transcription regulator via direct binding and/or post-translational modification.

61 GO annotations of biological process

Name	Definition
anatomical structure regression	The developmental process in which an anatomical stucture is destroyed as a part of its normal progression.
apoptotic process involved in blood vessel morphogenesis	Any apoptotic process that is involved in blood vessel morphogenesis.
B cell proliferation	The expansion of a B cell population by cell division. Follows B cell activation.
BMP signaling pathway	The series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
branching involved in blood vessel morphogenesis	The process of coordinated growth and sprouting of blood vessels giving rise to the organized vascular system.
canonical Wnt signaling pathway	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes.
cell chemotaxis	The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
cellular response to cytokine stimulus	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 cytokine stimulus.
cellular response to interleukin-4	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 an interleukin-4 stimulus.
chorio-allantoic fusion	The cell-cell adhesion process in which the cells of the chorion fuse to the cells of the allantois.
dentate gyrus development	The process whose specific outcome is the progression of the dentate gyrus over time, from its formation to the mature structure. The dentate gyrus is one of two interlocking gyri of the hippocampus. It contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus.
embryonic limb morphogenesis	The process, occurring in the embryo, by which the anatomical structures of the limb are generated and organized. A limb is an appendage of an animal used for locomotion or grasping.
epithelial cell apoptotic process	Any apoptotic process in an epithelial cell.
epithelial to mesenchymal transition	A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
face morphogenesis	The process in which the anatomical structures of the face are generated and organized. The face is the ventral division of the head.
forebrain neuroblast division	The division of a neuroblast located in the forebrain. Neuroblast division gives rise to at least another neuroblast.
forebrain radial glial cell differentiation	The process in which neuroepithelial cells of the neural tube give rise to radial glial cells, specialized bipotential progenitors cells of the forebrain. Differentiation includes the processes involved in commitment of a cell to a specific fate.
formation of radial glial scaffolds	The formation of scaffolds from a radial glial cell. The scaffolds are used as a substrate for the radial migration of cells.
histone H3 acetylation	The modification of histone H3 by the addition of an acetyl group.
histone H3-K56 acetylation	The modification of histone H3 by the addition of an acetyl group to a lysine residue at position 56 of the histone.
histone H4 acetylation	The modification of histone H4 by the addition of an acetyl group.
mammary gland development	The process whose specific outcome is the progression of the mammary gland over time, from its formation to the mature structure. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk. Its development starts with the formation of the mammary line and ends as the mature gland cycles between nursing and weaning stages.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of apoptotic process in bone marrow cell	Any process that stops, prevents, or reduces the frequency, rate or extent of the occurrence or rate of cell death by apoptotic process in the bone marrow.
negative regulation of cell-cell adhesion	Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell.
negative regulation of DNA binding	Any process that stops or reduces the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid).
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of interleukin-13 production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-13 production.
negative regulation of interleukin-4 production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-4 production.
negative regulation of interleukin-5 production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-5 production.
negative regulation of striated muscle tissue development	Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle development.
neutrophil differentiation	The process in which a myeloid precursor cell acquires the specialized features of a neutrophil.
odontogenesis of dentin-containing tooth	The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel.
osteoblast differentiation	The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone.
paraxial mesoderm formation	The process that gives rise to the paraxial mesoderm. This process pertains to the initial formation of the structure from unspecified parts.
positive regulation by host of viral transcription	Any process in which a host organism activates or increases the frequency, rate or extent of viral transcription, the synthesis of either RNA on a template of DNA or DNA on a template of RNA.
positive regulation of cell cycle process	Any process that increases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events.
positive regulation of cell differentiation	Any process that activates or increases the frequency, rate or extent of cell differentiation.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of cell proliferation in bone marrow	A process that activates or increases the frequency, rate or extent of cell proliferation in the bone marrow.
positive regulation of cell-cell adhesion	Any process that activates or increases the rate or extent of cell adhesion to another cell.
positive regulation of chondrocyte proliferation	Any process that increases the frequency, rate or extent of the multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population. A chondrocyte is a polymorphic cell that forms cartilage.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of epithelial to mesenchymal transition	Any process that increases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition is where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
positive regulation of gamma-delta T cell differentiation	Any process that activates or increases the frequency, rate or extent of gamma-delta T cell differentiation.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of granulocyte differentiation	Any process that activates or increases the frequency, rate or extent of granulocyte differentiation.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of Wnt signaling pathway	Any process that activates or increases the frequency, rate or extent of Wnt signal transduction.
regulation of neurogenesis	Any process that modulates the frequency, rate or extent of neurogenesis, the generation of cells in the nervous system.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
secondary palate development	The biological process whose specific outcome is the progression of the secondary palate from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure. The secondary palate is the part of the palate formed from the fusion of the two palatine shelves, extensions of the maxillary prominences.
sensory perception of taste	The series of events required for an organism to receive a gustatory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Gustation involves the direct detection of chemical composition, usually through contact with chemoreceptor cells. This is a neurological process.
somitogenesis	The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo.
sprouting angiogenesis	The extension of new blood vessels from existing vessels into avascular tissues, this process includes the specialization of endothelial cells into leading tip and stalk cells, proliferation and migration of the endothelial cells and cell adhesion resulting in angiogenic sprout fusion or lumen formation.
T cell receptor V(D)J recombination	The process in which T cell receptor V, D, and J, or V and J gene segments, depending on the specific locus, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS).
T-helper 1 cell differentiation	The process in which a relatively unspecialized T cell acquires the specialized features of a T-helper 1 (Th1) cell. A Th1 cell is a CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive and produces interferon-gamma.
tongue development	The process whose specific outcome is the progression of the tongue over time, from its formation to the mature structure. The tongue is the movable, muscular organ on the floor of the mouth of most vertebrates, in many other mammals is the principal organ of taste, aids in the prehension of food, in swallowing, and in modifying the voice as in speech.
trachea gland development	The progression of a trachea gland over time, from its formation to the mature structure. Trachea glands are found under the mucus of the trachea and secrete mucus, and agents that help protect the lung from injury and infection.
transcription by RNA polymerase II	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
G3X9C2	Nccrp1	F-box only protein 50	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MPQLSGGGGG	GGGDPELCAT	DEMIPFKDEG	DPQKEKIFAE	ISHPEEEGDL	ADIKSSLVNE
70	80	90	100	110	120
SEIIPASNGH	EVARQAQTSQ	EPYHDKAREH	PDDGKHPDGG	LYNKGPSYSS	YSGYIMMPNM
130	140	150	160	170	180
NNDPYMSNGS	LSPPIPRTSN	KVPVVQPSHA	VHPLTPLITY	SDEHFSPGSH	PSHIPSDVNS
190	200	210	220	230	240
KQGMSRHPPA	PDIPTFYPLS	PGGVGQITPP	LGWQGQPVYP	ITGGFRQPYP	SSLSVDTSMS
250	260	270	280	290	300
RFSHHMIPGP	PGPHTTGIPH	PAIVTPQVKQ	EHPHTDSDLM	HVKPQHEQRK	EQEPKRPHIK
310	320	330	340	350	360
KPLNAFMLYM	KEMRANVVAE	CTLKESAAIN	QILGRRWHAL	SREEQAKYYE	LARKERQLHM
370	380	390
QLYPGWSARD	NYGKKKKRKR	EKLQESASGT	GPRMTAAYI