AiPD: Autoinhibited Protein Database

O43439

Gene name	CBFA2T2 (EHT, MTGR1)
Protein name	Protein CBFA2T2
Names	ETO homologous on chromosome 20, MTG8-like protein, MTG8-related protein 1, Myeloid translocation-related protein 1, p85
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9139
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

372-443 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

372-443 (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 O43439

Entry ID	Method	Resolution	Chain	Position	Source
AF-O43439-F1	Predicted				AlphaFoldDB

392 variants for O43439

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs150186997 CA313354685	2	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA9817301 rs150186997	2	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9817302 rs775819059	4	E>K		No	ClinGen ExAC TOPMed gnomAD
rs763373201 CA9817303	7	I>K		No	ClinGen ExAC gnomAD
rs535410000 CA9817305	8	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767595401 CA9817307	9	L>W		No	ClinGen ExAC gnomAD
COSM1199715 rs146826289 CA408921766	11	E>*	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs146826289 CA9817308	11	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1568827333 CA408921777	12	I>T		No	ClinGen Ensembl
TCGA novel	14	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408921801 rs766486284	16	A>E		No	ClinGen ExAC TOPMed gnomAD
CA313354784 rs370048085	16	A>T		No	ClinGen ESP
CA9817310 rs766486284	16	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1261708509 CA408921819	19	W>*		No	ClinGen gnomAD
rs753683374 CA9817311	19	W>R		No	ClinGen ExAC gnomAD
CA408631545 rs1290665045	21	V>A		No	ClinGen gnomAD
CA9817313 rs149392217	21	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408631547 rs1317443770	22	G>C		No	ClinGen gnomAD
CA313270596 rs758055647	22	G>D		No	ClinGen ExAC
rs758055647 CA9817334	22	G>V		No	ClinGen ExAC
rs751036216 CA9817336	26	R>G		No	ClinGen ExAC gnomAD
rs865883485 CA313270629	27	V>E		No	ClinGen TOPMed
CA313270616 rs868565151	27	V>M		No	ClinGen Ensembl
rs925274055 CA313270639	28	P>S		No	ClinGen TOPMed gnomAD
CA313270645 rs527719357	29	A>E		No	ClinGen ExAC TOPMed gnomAD
CA9817337 rs756807530	29	A>T		No	ClinGen ExAC gnomAD
CA9817338 rs527719357	29	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	32	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200141024 CA9817340	32	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408631680 rs1307511590	33	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1168037422 CA408631689	34	P>L		No	ClinGen gnomAD
rs1601053638 CA408631706	36	E>G		No	ClinGen Ensembl
rs748522562 CA9817342	37	V>M		No	ClinGen ExAC gnomAD
TCGA novel	38	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs562416059 CA9817343	38	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs921055468 CA313270672	39	I>R		No	ClinGen Ensembl
rs777658292 CA313270686	41	S>C		No	ClinGen TOPMed gnomAD
CA313270692 rs777658292	41	S>F		No	ClinGen TOPMed gnomAD
rs1459531341 CA408631826	46	P>S		No	ClinGen TOPMed
COSM239165 CA408631857 rs1568848796	48	M>I	prostate [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1357845645 CA408631863	49	P>T		No	ClinGen gnomAD
CA9817345 rs747067517	54	I>M		No	ClinGen ExAC gnomAD
CA313270701 rs936714567	54	I>V		No	ClinGen TOPMed
CA9817347 rs776852542	59	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs368396948 CA9817346	59	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9817349 rs765142273	60	R>K		No	ClinGen ExAC gnomAD
rs780769083 CA313270736	61	P>T		No	ClinGen Ensembl
CA408632032 rs1329327211	62	V>E		No	ClinGen TOPMed
CA408632074 rs1277634223	68	A>T		No	ClinGen gnomAD
CA9817371 rs761397233	70	S>N		No	ClinGen ExAC TOPMed gnomAD
CA313272832 rs145676091	71	N>D		No	ClinGen ESP TOPMed gnomAD
CA313272834 rs887482922	71	N>S		No	ClinGen TOPMed
rs1194371966 CA408632118	72	G>V		No	ClinGen gnomAD
rs749934454 CA9817373	74	N>K		No	ClinGen ExAC TOPMed gnomAD
COSM1136779 COSM478033 rs767216361 CA9817372	74	N>S	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1392507307 CA408632165	76	S>P		No	ClinGen gnomAD
CA9817374 rs760148098	78	P>S		No	ClinGen ExAC TOPMed gnomAD
CA408632196 rs1601061922	79	T>P		No	ClinGen Ensembl
rs1333055212 CA408632238	82	G>D		No	ClinGen TOPMed gnomAD
rs1438277753 CA408632246	83	A>P		No	ClinGen gnomAD
CA408632254 rs1472300620	83	A>V		No	ClinGen TOPMed
rs755241055 CA313272863	84	P>T		No	ClinGen TOPMed
CA9817379 rs752024768	90	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA9817380 rs757545629	91	S>G		No	ClinGen ExAC TOPMed gnomAD
CA9817381 rs781603913	92	N>H		No	ClinGen ExAC gnomAD
rs745936062 CA9817382	92	N>S		No	ClinGen ExAC TOPMed gnomAD
rs769712931 CA9817384	95	A>T		No	ClinGen ExAC
rs780212801 CA9817385	101	A>P		No	ClinGen ExAC gnomAD
rs1350743676 CA408632474	101	A>V		No	ClinGen TOPMed
CA408632483 rs1438284934	102	L>H		No	ClinGen gnomAD
CA408632489 rs1364914291	103	T>A		No	ClinGen gnomAD
rs887122673 CA313272933	103	T>I		No	ClinGen TOPMed
rs1402595446 CA408632500	104	N>D		No	ClinGen TOPMed
CA9817387 rs768595018	106	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	107	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408632648 rs1462159098	113	A>T		No	ClinGen TOPMed gnomAD
CA9817390 rs149499563	113	A>V		No	ClinGen ESP ExAC
TCGA novel	114	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772902809 CA408632685	115	Q>H		No	ClinGen ExAC gnomAD
rs1444334009 CA408632778	121	R>C		No	ClinGen gnomAD
rs765736661 CA9817393	121	R>H		No	ClinGen ExAC TOPMed gnomAD
rs369643583 CA9817394	124	T>I		No	ClinGen ESP ExAC gnomAD
CA408632864 rs1263149354	127	Q>E		No	ClinGen gnomAD
rs1412976706 CA408632940	131	N>S		No	ClinGen TOPMed
TCGA novel	131	N>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1184384665 CA408632954	132	D>G		No	ClinGen TOPMed
CA9817399 rs768016581	136	E>D		No	ClinGen ExAC gnomAD
rs750569805 CA9817400	137	I>T		No	ClinGen ExAC
rs756365179 CA9817401	139	E>K		No	ClinGen ExAC gnomAD
CA9817402 rs549957667 COSM1411239 COSM1411238	142	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA408633020 rs1251802661	142	R>W		No	ClinGen gnomAD
rs748706530 CA313273034	147	A>V		No	ClinGen Ensembl
CA313273038 rs999525336	149	V>M		No	ClinGen Ensembl
CA9817418 rs762441443	150	N>K		No	ClinGen ExAC gnomAD
rs1171470942 CA408633098	153	V>A		No	ClinGen gnomAD
CA9817421 rs756277843	155	I>S		No	ClinGen ExAC gnomAD
COSM1025952 COSM1592533 CA313277057 rs971756700	157	E>G	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1414807384 CA408633137	159	H>Y		No	ClinGen gnomAD
rs1327992736 CA408633145	160	C>G		No	ClinGen TOPMed
rs766692226 CA9817422	161	K>R		No	ClinGen ExAC gnomAD
CA313277066 rs78616659	163	Q>K		No	ClinGen Ensembl
rs753832366 CA9817423	165	A>T		No	ClinGen ExAC gnomAD
CA313277076 COSM215811 rs267605890	171	R>C	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
TCGA novel	173	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1295912537 CA408633234	173	F>S		No	ClinGen gnomAD
TCGA novel	175	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755103067 CA9817424	175	I>V		No	ClinGen ExAC gnomAD
rs868408469 CA313277079	176	P>T		No	ClinGen Ensembl
CA408633717 rs1193214790	183	P>S		No	ClinGen gnomAD
rs759789147 CA9817441	186	Q>L		No	ClinGen ExAC gnomAD
CA408633740 rs1159215415	187	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9817442 rs765237844	187	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	189	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408633770 rs1327543303	192	C>R		No	ClinGen gnomAD
CA9817446 rs751286663	193	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1307629069 CA408633781	193	A>V		No	ClinGen gnomAD
CA9817447 rs575183508	194	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1026749986 CA313278710	194	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs780878677 CA9817448	195	A>T		No	ClinGen ExAC gnomAD
rs139150224 CA9817449	195	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199515579 CA9817452	197	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779698273 CA9817451	197	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1221246046 COSM1307292 COSM1307291 CA408633807	198	Q>H	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs772429963 CA9817453	199	T>N		No	ClinGen ExAC gnomAD
rs1236224987 CA408633819	200	P>L		No	ClinGen gnomAD
rs370737889 CA9817457	205	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA9817458 rs201708482	208	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1329714792 CA408633968	211	L>V		No	ClinGen gnomAD
CA408634003 rs1443527693	213	N>S		No	ClinGen TOPMed gnomAD
CA408634001 rs1443527693	213	N>T		No	ClinGen TOPMed gnomAD
CA408634102 rs1178178637	218	S>L		No	ClinGen TOPMed
rs1220394237 CA408634121	220	A>P		No	ClinGen gnomAD
rs1186132437 CA408634201	224	E>G		No	ClinGen TOPMed
CA9817463 rs764101572	224	E>Q		No	ClinGen ExAC gnomAD
rs977767830 CA313278772	226	L>F		No	ClinGen Ensembl
rs1270616237 CA408634233	226	L>P		No	ClinGen gnomAD
CA408634255 rs1205103794	227	M>I		No	ClinGen gnomAD
CA9817464 rs751472025	227	M>T		No	ClinGen ExAC gnomAD
CA408634242 rs1478310686	227	M>V		No	ClinGen TOPMed
CA408634271 rs1236855486	228	E>A		No	ClinGen gnomAD
rs750301541 CA9817467	231	G>R		No	ClinGen ExAC TOPMed gnomAD
rs374071030 CA9817468	232	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1410902140 CA408634387	235	R>K		No	ClinGen TOPMed gnomAD
CA408634389 rs1410902140	235	R>T		No	ClinGen TOPMed gnomAD
rs1334040859 CA408634408	236	P>H		No	ClinGen TOPMed gnomAD
rs1334040859 CA408634405	236	P>L		No	ClinGen TOPMed gnomAD
rs1334040859 CA408634406	236	P>R		No	ClinGen TOPMed gnomAD
rs985214984 CA313278783	237	S>N		No	ClinGen gnomAD
CA408634451 rs544838236	239	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA408634444 rs1416634228	239	E>G		No	ClinGen gnomAD
rs1319485574 CA408634458	240	R>W		No	ClinGen TOPMed
CA408635093 rs1601089724	241	R>K		No	ClinGen Ensembl
COSM1025955 rs1230077240 CA408635113 COSM1592530	243	E>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA408635125 rs1285136713	245	S>N		No	ClinGen gnomAD
rs372020030 CA313279583	247	D>G		No	ClinGen ESP TOPMed gnomAD
rs1259666556 CA408635158	249	D>E		No	ClinGen TOPMed gnomAD
rs1209439014 CA408635157	249	D>G		No	ClinGen gnomAD
rs1486066886 CA408635161	250	T>A		No	ClinGen gnomAD
TCGA novel	250	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408635166 rs140571621	251	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756625910 CA9817522	251	I>T		No	ClinGen ExAC gnomAD
rs140571621 CA9817521	251	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9817523 COSM1199712 rs374883285 COSM1199711	252	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA9817524 rs369305283	253	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA408635190 rs1434019047	255	P>A		No	ClinGen TOPMed gnomAD
CA408635189 rs1434019047	255	P>T		No	ClinGen TOPMed gnomAD
CA408635195 rs1171744633	256	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	257	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1376694474 CA408635202	257	A>S		No	ClinGen gnomAD
CA408635201 rs1376694474	257	A>T		No	ClinGen gnomAD
CA313279626 rs752411521	261	C>R		No	ClinGen gnomAD
rs748425625 CA9817527	261	C>Y		No	ClinGen ExAC gnomAD
rs1035521774 CA313279632	267	P>R		No	ClinGen Ensembl
rs1160514157 CA408635273	268	R>Q		No	ClinGen TOPMed
CA9817529 rs372999739	268	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	269	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA313279643 rs150030758	270	S>N		No	ClinGen ESP TOPMed
rs1348632334 CA408635300	272	A>V		No	ClinGen gnomAD
CA9817530 rs760634467	275	V>A		No	ClinGen ExAC gnomAD
rs1200285327 CA408635322	276	P>S		No	ClinGen TOPMed
CA408635327 rs1486963869	277	L>V		No	ClinGen gnomAD
rs533112092 CA408635333	278	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9817532 rs533112092	278	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1568861572 CA408635340	279	N>H		No	ClinGen Ensembl
rs1453602216 CA408635354 CA408635355	281	G>R		No	ClinGen TOPMed gnomAD
rs762596928 CA9817536	282	G>A		No	ClinGen ExAC gnomAD
rs762596928 CA408635362	282	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs752250066 CA9817535	282	G>S		No	ClinGen ExAC gnomAD
TCGA novel	282	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3707714 rs756609426 CA9817539 COSM3707715	286	P>A	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9817540 rs780465808	287	T>I		No	ClinGen ExAC TOPMed gnomAD
rs144942563 COSM108180 CA313279676	288	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1394138750 CA408635429	293	H>Y		No	ClinGen gnomAD
rs754209043 CA9817542	294	Y>N		No	ClinGen ExAC gnomAD
CA9817544 rs779368072	299	I>T		No	ClinGen ExAC TOPMed gnomAD
CA408635487 rs1337702069	301	T>N		No	ClinGen TOPMed
rs748254661 CA9817545	301	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1304951120 CA408635495	302	S>F		No	ClinGen gnomAD
CA408635505 rs1216711058	304	L>R		No	ClinGen gnomAD
CA313279700 rs946433527	304	L>V		No	ClinGen TOPMed
CA9817546 rs772439095	305	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs150481335 CA9817548	306	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148795225 CA9817547	306	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA9817549 rs770966057	309	N>S		No	ClinGen ExAC TOPMed gnomAD
CA9817551 rs759546656	311	M>I		No	ClinGen ExAC TOPMed gnomAD
rs775308003 CA9817550	311	M>T		No	ClinGen ExAC gnomAD
TCGA novel	312	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	312	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769405756 CA9817552	314	H>D		No	ClinGen ExAC gnomAD
CA408635574 rs200823352	315	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9817553 rs200823352	315	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408635575 rs1395759879	315	R>Q		No	ClinGen gnomAD
COSM185405 rs146788442 CA9817554	318	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs763801681 CA9817555	318	R>H		No	ClinGen ExAC gnomAD
CA408635598 rs1375575501	319	D>Y		No	ClinGen gnomAD
CA408635604 rs1224413571	320	R>G		No	ClinGen gnomAD
CA313279747 rs762630814	321	H>N		No	ClinGen Ensembl
CA408635620 rs1292840385	322	H>Y		No	ClinGen gnomAD
rs1208515850 CA408635628	323	S>N		No	ClinGen TOPMed
CA313279752 rs1000104269	323	S>R		No	ClinGen TOPMed
rs529726824 CA9817572	329	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529726824 CA9817573	329	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1270723641 CA408635684	330	Y>C		No	ClinGen gnomAD
TCGA novel	331	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9817574 rs773945188	333	E>K		No	ClinGen ExAC TOPMed gnomAD
CA408635724 rs1601095858	336	D>N		No	ClinGen Ensembl
CA313281319 rs932263490	337	H>R		No	ClinGen gnomAD
CA313281322 rs1050504741	338	R>C		No	ClinGen TOPMed
rs376931051 COSM1153908 CA9817576 COSM1025956	338	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs376931051 CA408635742	338	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	340	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9817577 rs772794531	341	E>Q		No	ClinGen ExAC gnomAD
rs865977083 CA313281346	345	A>V		No	ClinGen Ensembl
rs1422181786 CA408635817	349	K>Q		No	ClinGen gnomAD
rs1273707710 CA408635821	349	K>R		No	ClinGen TOPMed
rs1173617212 CA408635851	353	H>R		No	ClinGen TOPMed gnomAD
rs145536057	354	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA408635871 rs568783051	354	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1410168708 CA408635867	354	A>T		No	ClinGen TOPMed
CA9817587 rs568783051	354	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408635923 CA9817591 rs768371975	361	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1455597060 CA408635942	364	K>R		No	ClinGen gnomAD
rs747748686 CA9817593	367	R>H		No	ClinGen ExAC TOPMed gnomAD
CA408635964 rs747748686	367	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9817594 rs771803713 CA408635978	369	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA408635990 rs1601098026	371	V>G		No	ClinGen Ensembl
CA408635996 rs756204000	373	R>G		No	ClinGen TOPMed gnomAD
CA408635997 rs1346690965 COSM2757737 COSM2757736	373	R>Q	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs756204000 CA313281902	373	R>W		No	ClinGen TOPMed gnomAD
CA9817595 rs140481995	374	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs145709031 COSM279592 CA9817596	374	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA9817597 rs765644628	375	C>F		No	ClinGen ExAC gnomAD
CA408636005 rs1465276511	375	C>R		No	ClinGen gnomAD
rs1297938107 CA408636038	379	D>V		No	ClinGen TOPMed
CA408636043 COSM1592529 rs1442534272 COSM1025957	380	R>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs776078006 CA9817598	380	R>H		No	ClinGen ExAC TOPMed gnomAD
CA313281932 rs901116990	381	E>K		No	ClinGen Ensembl
rs1274896672 CA408636056	382	E>A		No	ClinGen gnomAD
CA9817599 rs763589402	384	N>I		No	ClinGen ExAC gnomAD
CA313281935 rs751122296	384	N>Y		No	ClinGen gnomAD
rs764507578 CA9817600	385	Y>C		No	ClinGen ExAC gnomAD
rs752021065 CA9817601	386	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1047539018 CA313281942	388	R>G		No	ClinGen TOPMed
rs767847707 CA9817603	389	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757392296 COSM1681624 COSM1681625 CA9817602	389	R>W	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA313281950 rs1024130897	391	N>D		No	ClinGen TOPMed
CA9817604 rs373304432	391	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs377509178 CA9817606	395	E>K		No	ClinGen ESP ExAC gnomAD
rs1568865269 CA408636173	399	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs201457133 CA9817608	400	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408636180 rs1568865289	401	T>S		No	ClinGen Ensembl
rs778654660 CA9817609	401	T>S		No	ClinGen ExAC gnomAD
rs146572668 CA9817610	402	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA408636200 rs1324156058	404	V>F		No	ClinGen TOPMed gnomAD
rs777536440 CA9817612	404	V>G		No	ClinGen ExAC gnomAD
rs770528859 CA9817614	412	S>N		No	ClinGen ExAC gnomAD
rs1426753655 CA408636267	414	D>H		No	ClinGen gnomAD
rs1016353887 CA313282007	418	N>I		No	ClinGen Ensembl
rs1601112033 CA408636325	420	S>C		No	ClinGen Ensembl
CA313284538 rs774645939	421	Q>E		No	ClinGen Ensembl
CA408636330 rs1207882526	421	Q>R		No	ClinGen TOPMed
CA9817638 rs576242205	425	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408636361 rs576242205	425	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408636389 rs1265107878	429	G>A		No	ClinGen TOPMed
CA408636386 rs1275418937	429	G>R		No	ClinGen gnomAD
rs1425278332 CA408636412	433	V>I		No	ClinGen gnomAD
CA408636419 rs1187981504	434	P>S		No	ClinGen TOPMed gnomAD
rs1372353578 CA408636427	435	V>A		No	ClinGen gnomAD
rs1409283169 CA408636435	436	E>D		No	ClinGen TOPMed
rs753907066 CA9817642	439	K>E		No	ClinGen ExAC gnomAD
rs753907066 CA408636454	439	K>Q		No	ClinGen ExAC gnomAD
CA9817643 rs759666493	441	T>A		No	ClinGen ExAC gnomAD
rs1170461056	441	T>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA408636518 rs1370896236	446	N>S		No	ClinGen gnomAD
CA408636569 rs1218701695	453	M>T		No	ClinGen TOPMed
CA9817659 rs771126062	456	V>I		No	ClinGen ExAC gnomAD
CA9817662 rs765316437	460	V>F		No	ClinGen ExAC TOPMed gnomAD
CA9817663 COSM1247391 rs765316437 COSM1247392	460	V>I	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs57375754 CA9817665	461	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	462	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1568873387 CA408636633	463	A>P		No	ClinGen Ensembl
rs972936595 CA313285584	468	F>L		No	ClinGen TOPMed
rs1299183392 CA408636672	468	F>S		No	ClinGen TOPMed
CA9817667 rs757061554	470	V>L		No	ClinGen ExAC
rs1210370727 CA408636695	472	A>T		No	ClinGen gnomAD
CA9817668 rs767425238	473	T>A		No	ClinGen ExAC TOPMed gnomAD
rs750056034 CA9817669	477	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1388458334 CA408636748	480	Q>K		No	ClinGen gnomAD
rs755852685 CA9817670	481	T>A		No	ClinGen ExAC gnomAD
TCGA novel	482	I>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9817672 rs748786397	484	D>E		No	ClinGen ExAC TOPMed gnomAD
rs778199160 CA9817674	486	K>R		No	ClinGen ExAC gnomAD
CA313285605 rs1044079117	487	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs777006649 CA9817678	490	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9817679 rs746072691	490	A>V		No	ClinGen ExAC gnomAD
rs769952756 CA9817680	491	E>V		No	ClinGen ExAC gnomAD
CA9817683 rs764248714	494	F>V		No	ClinGen ExAC gnomAD
rs777795048 CA9817684	496	V>I		No	ClinGen ExAC TOPMed gnomAD
rs368754405 CA9817687	498	N>K		No	ClinGen ESP ExAC gnomAD
rs75180889 CA9817686	498	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408636904 rs1247891253	503	S>F		No	ClinGen TOPMed gnomAD
rs969236014 CA313285627	504	T>M		No	ClinGen TOPMed gnomAD
CA408636944 rs1312443040	507	C>F		No	ClinGen gnomAD
rs865838928 COSM3405028 COSM3405027 CA313286656	512	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA408636978 rs1411762215	512	R>S		No	ClinGen gnomAD
CA9817705 rs773135856	516	E>K		No	ClinGen ExAC TOPMed gnomAD
rs766207717 CA9817708	523	I>M		No	ClinGen ExAC TOPMed gnomAD
COSM185406 rs759260680 CA9817709	524	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA408637070 rs1283162614	525	R>Q		No	ClinGen TOPMed
CA408637087 rs1601128892	527	C>W		No	ClinGen Ensembl
CA408637114 rs1187154394	531	C>*		No	ClinGen gnomAD
CA408637119 rs1392583310	532	Q>P		No	ClinGen gnomAD
CA408637120 rs1392583310	532	Q>R		No	ClinGen gnomAD
rs7362579 CA313286679	536	W>G		No	ClinGen Ensembl
TCGA novel	536	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1018098501 CA313286682	537	E>D		No	ClinGen TOPMed
CA408637164 rs1327696583	538	R>Q		No	ClinGen TOPMed
CA9817713 rs781709547	538	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA408637170 rs1601129031	539	H>P		No	ClinGen Ensembl
COSM1713361 rs1432697508 COSM1713362 CA408637183	541	R>C	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
CA9817715 rs750954599	541	R>H		No	ClinGen ExAC TOPMed gnomAD
rs750954599 CA9817714	541	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9817716 rs369774013	542	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9817717 rs749423006	545	Q>R		No	ClinGen ExAC gnomAD
CA408637252 rs1367249958	551	S>I		No	ClinGen gnomAD
rs772120890 CA9817721	552	P>S		No	ClinGen ExAC gnomAD
rs45563732 CA9817723	553	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776503964 CA9817725	554	G>D		No	ClinGen ExAC gnomAD
CA9817724 rs770587126	554	G>S		No	ClinGen ExAC gnomAD
rs764940496 CA408637287	557	R>P		No	ClinGen ExAC TOPMed gnomAD
rs764940496 CA9817727	557	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA313286710 rs149325981	557	R>W		No	ClinGen ESP TOPMed gnomAD
rs752192229 CA9817728	558	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	561	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408637315 rs1275935663	562	V>G		No	ClinGen TOPMed
CA9817731 rs750856936	562	V>I		No	ClinGen ExAC TOPMed gnomAD
CA313286726 rs376557268	565	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs201946065 CA9817732	565	G>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	566	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766632185 CA9817733	567	S>F		No	ClinGen ExAC gnomAD
rs368905282 CA9817735	571	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs924395300 CA313286737	572	D>G		No	ClinGen TOPMed
CA9817737 rs748392166	572	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1438005863 CA408637388	574	S>R		No	ClinGen TOPMed gnomAD
CA408637391 rs758482628	575	V>L		No	ClinGen ExAC TOPMed gnomAD
COSM1411257 CA9817738 rs758482628 COSM1411256	575	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs536640256 CA313286741	576	P>S		No	ClinGen 1000Genomes
CA9817739 rs778026645	577	S>N		No	ClinGen ExAC
CA408637412 rs1270396275	578	P>L		No	ClinGen gnomAD
rs1226236700 CA408637407	578	P>S		No	ClinGen gnomAD
rs746868906 CA9817740	579	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9817743 rs115506243	581	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs576506202 CA9817742	581	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408637441 rs1471715205	583	T>N		No	ClinGen gnomAD
CA408637438 rs1232439451	583	T>P		No	ClinGen gnomAD
CA408637448 rs1184672288	584	S>L		No	ClinGen TOPMed gnomAD
rs1184672288 CA408637447	584	S>W		No	ClinGen TOPMed gnomAD
rs1457577490 CA408637467	587	T>I		No	ClinGen gnomAD
rs775058249 CA9817745	588	S>L		No	ClinGen ExAC TOPMed gnomAD
rs916233497 CA313286757	589	R>C		No	ClinGen Ensembl
CA408637475 rs1407081664	589	R>H		No	ClinGen gnomAD
rs1568877996 CA408637485	591	S>P		No	ClinGen Ensembl
CA313286762 rs745356668	593	P>L		No	ClinGen Ensembl
CA313286759 rs746733326	593	P>T		No	ClinGen Ensembl
rs1323614947 CA408637504	594	A>G		No	ClinGen gnomAD
TCGA novel	598	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9817748 rs773961257	599	I>V		No	ClinGen ExAC gnomAD
CA313286774 rs113411445	600	D>G		No	ClinGen Ensembl
CA9817750 rs766976346	600	D>N		No	ClinGen ExAC TOPMed gnomAD
COSM376766 CA9817751 rs754137827	602	N>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1048352979 CA313286777	603	G>R		No	ClinGen TOPMed
rs765698702 CA9817753	605	L>R		No	ClinGen ExAC gnomAD

No associated diseases with O43439

5 regional properties for O43439

Type	Name	Position	InterPro Accession
domain	TolB, N-terminal	28 - 121	IPR007195
repeat	WD40-like beta propeller	202 - 227	IPR011659-1
repeat	WD40-like beta propeller	243 - 274	IPR011659-2
repeat	WD40-like beta propeller	283 - 318	IPR011659-3
repeat	WD40-like beta propeller	365 - 393	IPR011659-4

Functions

		Description
EC Number
Subcellular Localization	Nucleus
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.

2 GO annotations of molecular function

Name	Definition
metal ion binding	Binding to a metal ion.
transcription corepressor activity	A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

6 GO annotations of biological process

Name	Definition
intestinal epithelial cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a columnar/cuboidal epithelial cell of the intestine.
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 neuron projection development	Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
negative regulation of Notch signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the Notch signaling pathway.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
positive regulation of neuron projection development	Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).

No homologous proteins in AiPD

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

10	20	30	40	50	60
MAKESGISLK	EIQVLARQWK	VGPEKRVPAM	PGSPVEVKIQ	SRSSPPTMPP	LPPINPGGPR
70	80	90	100	110	120
PVSFTPTALS	NGINHSPPTL	NGAPSPPQRF	SNGPASSTSS	ALTNQQLPAT	CGARQLSKLK
130	140	150	160	170	180
RFLTTLQQFG	NDISPEIGEK	VRTLVLALVN	STVTIEEFHC	KLQEATNFPL	RPFVIPFLKA
190	200	210	220	230	240
NLPLLQRELL	HCARAAKQTP	SQYLAQHEHL	LLNTSIASPA	DSSELLMEVH	GNGKRPSPER
250	260	270	280	290	300
REENSFDRDT	IAPEPPAKRV	CTISPAPRHS	PALTVPLMNP	GGQFHPTPPP	LQHYTLEDIA
310	320	330	340	350	360
TSHLYREPNK	MLEHREVRDR	HHSLGLNGGY	QDELVDHRLT	EREWADEWKH	LDHALNCIME
370	380	390	400	410	420
MVEKTRRSMA	VLRRCQESDR	EELNYWKRRY	NENTELRKTG	TELVSRQHSP	GSADSLSNDS
430	440	450	460	470	480
QREFNSRPGT	GYVPVEFWKK	TEEAVNKVKI	QAMSEVQKAV	AEAEQKAFEV	IATERARMEQ
490	500	510	520	530	540
TIADVKRQAA	EDAFLVINEQ	EESTENCWNC	GRKASETCSG	CNIARYCGSF	CQHKDWERHH
550	560	570	580	590	600
RLCGQNLHGQ	SPHGQGRPLL	PVGRGSSARS	ADCSVPSPAL	DKTSATTSRS	STPASVTAID

TNGL