AiPD: Autoinhibited Protein Database

Q6P1R3

Gene name	MSANTD2 (C11orf61)
Protein name	Myb/SANT-like DNA-binding domain-containing protein 2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79684
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-82 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-82 (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 Q6P1R3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6P1R3-F1	Predicted				AlphaFoldDB

357 variants for Q6P1R3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6343037 rs754464264	2	A>D		No	ClinGen ExAC gnomAD
rs534297687 CA230381858	3	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6343036 rs752037513	3	A>T		No	ClinGen ExAC gnomAD
rs534297687 CA6343035	3	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA383134753 rs1225648647	4	P>L		No	ClinGen gnomAD
rs1299525425 CA383134782	4	P>S		No	ClinGen TOPMed gnomAD
rs1299525425 CA383134771	4	P>T		No	ClinGen TOPMed gnomAD
CA383134730 rs1374936909	5	C>R		No	ClinGen TOPMed
CA383134693 rs1374228139	6	G>A		No	ClinGen TOPMed gnomAD
TCGA novel	6	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383134670 rs573260380	7	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6343034 rs573260380	7	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383134641 rs1377729071	8	E>G		No	ClinGen gnomAD
CA383134628 rs765577907	9	L>M		No	ClinGen ExAC gnomAD
CA6343032 rs765577907	9	L>V		No	ClinGen ExAC gnomAD
rs370739014 CA6343031	10	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1160891898 CA383134586	11	A>T		No	ClinGen gnomAD
rs776773361 CA6343030	12	N>T		No	ClinGen ExAC TOPMed gnomAD
rs768637276 CA383134478	13	S>L		No	ClinGen ExAC gnomAD
CA383134524 rs1383067924	13	S>P		No	ClinGen TOPMed
rs768637276 CA6343029	13	S>W		No	ClinGen ExAC gnomAD
CA6343028 rs760851695	14	P>L		No	ClinGen ExAC gnomAD
CA383134344 rs775413266	17	I>S		No	ClinGen ExAC gnomAD
CA6343027 rs775413266	17	I>T		No	ClinGen ExAC gnomAD
rs897488478 CA230381802	19	K>Q		No	ClinGen gnomAD
CA383134242 rs1254808814	21	E>A		No	ClinGen TOPMed gnomAD
CA383134199 rs770963561	23	L>F		No	ClinGen ExAC gnomAD
CA6343026 rs770963561	23	L>I		No	ClinGen ExAC gnomAD
CA6343024 rs777715218	24	S>F		No	ClinGen ExAC gnomAD
rs749236911 CA6343025	24	S>P		No	ClinGen ExAC gnomAD
CA6343023 rs769655756	25	P>R		No	ClinGen ExAC TOPMed gnomAD
CA6343022 rs747827430	26	A>S		No	ClinGen ExAC gnomAD
rs554705109 CA6343021	28	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA230381761 rs1015595593	28	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1395932704 CA383134117	29	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs950021622 CA230381736	30	G>D		No	ClinGen TOPMed
CA383134062 rs1453996275	33	D>N		No	ClinGen gnomAD
rs779416571 CA6343018	35	N>D		No	ClinGen ExAC gnomAD
CA383134020 rs1591486525	35	N>I		No	ClinGen Ensembl
CA383134028 rs779416571	35	N>Y		No	ClinGen ExAC gnomAD
CA383134013 rs1156361932	36	P>T		No	ClinGen gnomAD
CA6343017 rs759010607	37	S>P		No	ClinGen ExAC gnomAD
CA383133949 rs1445115804	40	D>G		No	ClinGen TOPMed
TCGA novel	40	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1476198359 CA383133929	41	P>L		No	ClinGen TOPMed
rs1258525499 CA383133939	41	P>T		No	ClinGen TOPMed
CA6343014 rs762113776	43	T>M		No	ClinGen ExAC gnomAD
rs552519503 CA6343012	44	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1055948624 CA230381700	45	R>W		No	ClinGen TOPMed gnomAD
CA6343010 rs775709398	46	G>S		No	ClinGen ExAC gnomAD
CA230381682 rs866648054	47	A>S		No	ClinGen Ensembl
CA6343009 rs771979165	48	S>F		No	ClinGen ExAC gnomAD
CA230381661 rs866550053	49	P>T		No	ClinGen Ensembl
rs1339152284 CA383133802	51	G>R		No	ClinGen gnomAD
rs1337975817 CA383133776	52	P>L		No	ClinGen gnomAD
CA230381631 rs926451121	53	G>S		No	ClinGen TOPMed gnomAD
rs979663068 CA230381628	54	S>N		No	ClinGen TOPMed
rs1442634011 CA383133725	56	A>T		No	ClinGen gnomAD
CA6343003 rs768413495	58	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA383133685 rs1374676298	59	G>R		No	ClinGen gnomAD
CA230381620 rs1043136773	60	A>T		No	ClinGen Ensembl
CA383133637 rs1416018095	62	A>V		No	ClinGen TOPMed
CA383133626 rs1245938002	63	S>A		No	ClinGen gnomAD
rs750947786 CA6343000	63	S>C		No	ClinGen ExAC TOPMed gnomAD
rs750947786 CA6342999	63	S>F		No	ClinGen ExAC TOPMed gnomAD
CA383133612 rs1253705713	64	G>R		No	ClinGen gnomAD
rs1262461223 CA383133595	65	G>D		No	ClinGen TOPMed
TCGA novel	66	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383133545 rs1228770040	69	G>E		No	ClinGen gnomAD
CA383133521 rs1295855613	71	G>R		No	ClinGen gnomAD
rs754288807 CA383133489	72	G>A		No	ClinGen ExAC TOPMed gnomAD
rs911794228 CA230381602	72	G>C		No	ClinGen TOPMed
rs911794228 CA383133503	72	G>S		No	ClinGen TOPMed
CA6342996 rs754288807	72	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1371204229 CA383133478	73	R>H		No	ClinGen gnomAD
rs1384525118 CA383133451	75	A>T		No	ClinGen TOPMed gnomAD
CA230381601 rs955002267	75	A>V		No	ClinGen TOPMed gnomAD
rs1255535889 CA383133429	76	A>V		No	ClinGen TOPMed
rs1298726549 CA383133423	77	S>L		No	ClinGen gnomAD
rs1429009922 CA383133417	78	S>F		No	ClinGen gnomAD
CA383133411 rs1175204426	79	S>L		No	ClinGen gnomAD
rs752806139 CA6342993	81	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1362596023 CA383133403	81	S>P		No	ClinGen TOPMed
rs1029760332 CA230381566	82	F>L		No	ClinGen TOPMed
rs1449992194 CA383133389	83	S>F		No	ClinGen gnomAD
CA230381549 rs920385672	86	G>C		No	ClinGen Ensembl
CA230381544 rs975661451	87	G>V		No	ClinGen TOPMed
rs1482978349 CA383133361	88	G>D		No	ClinGen gnomAD
CA383133364 rs1196955937	88	G>S		No	ClinGen TOPMed gnomAD
rs1391492496 CA383133354	89	G>A		No	ClinGen TOPMed
CA6342991 rs767658842	91	A>S		No	ClinGen ExAC TOPMed gnomAD
CA383133346 rs767658842	91	A>T		No	ClinGen ExAC TOPMed gnomAD
CA383133333 rs1273920390	92	A>V		No	ClinGen TOPMed gnomAD
CA383133325 rs1230583580	93	A>E		No	ClinGen gnomAD
CA230381527 rs964631862	94	A>T		No	ClinGen TOPMed gnomAD
CA230381521 rs962021303	95	A>T		No	ClinGen Ensembl
rs1480975034 CA383133301	96	A>T		No	ClinGen TOPMed
rs1435056047 CA383133274	98	A>G		No	ClinGen TOPMed gnomAD
rs765313112 CA6342988	98	A>S		No	ClinGen ExAC TOPMed gnomAD
rs765313112 CA6342989	98	A>T		No	ClinGen ExAC TOPMed gnomAD
rs912949339 CA230381509	99	C>R		No	ClinGen Ensembl
CA383133246 rs1401213641	100	R>L		No	ClinGen gnomAD
rs1172276660 CA383133238	101	G>D		No	ClinGen gnomAD
CA383133221 rs1269281371	102	M>I		No	ClinGen TOPMed gnomAD
rs1173469596 CA383133230	102	M>V		No	ClinGen TOPMed
CA6342984 rs768268977	105	T>M		No	ClinGen ExAC gnomAD
CA383133160 rs1213605806 COSM3710122 COSM3710121	107	A>S	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA383133149 rs1278344365	108	E>*		No	ClinGen gnomAD
CA383133129 rs1431052287	109	T>K		No	ClinGen gnomAD
rs1327780354 CA383133110	111	A>T		No	ClinGen gnomAD
rs1260812014 CA383133104	111	A>V		No	ClinGen gnomAD
rs1445934208 CA383133074	114	A>T		No	ClinGen TOPMed
CA6342980 rs745420138	115	V>L		No	ClinGen ExAC gnomAD
rs1331881043 CA383133031	117	G>D		No	ClinGen gnomAD
CA383133018 rs1326547070	118	N>I		No	ClinGen TOPMed
rs1412996279 CA383133011	118	N>K		No	ClinGen TOPMed gnomAD
rs1014352505 TCGA novel CA230381476	119	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed gnomAD
rs200696995 CA6342979	122	V>G		No	ClinGen ExAC gnomAD
CA383132975 rs1160041937	122	V>L		No	ClinGen gnomAD
CA6342978 rs757831254	123	E>G		No	ClinGen ExAC
CA6342975 rs756386081	127	Q>H		No	ClinGen ExAC gnomAD
rs377389815 CA230381435	129	L>V		No	ClinGen ESP TOPMed gnomAD
rs767893818 CA383132823	132	A>G		No	ClinGen ExAC TOPMed gnomAD
CA6342973 rs767893818	132	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6342971 rs751745384	134	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1228825581 CA383132782	137	G>S		No	ClinGen gnomAD
CA6342970 rs766561996	140	A>T		No	ClinGen ExAC gnomAD
rs1282237433 CA383132723	140	A>V		No	ClinGen gnomAD
rs1001735103 CA230381427	141	P>R		No	ClinGen Ensembl
CA383132699 rs1467381061	142	G>A		No	ClinGen TOPMed
rs1467381061 CA383132702	142	G>E		No	ClinGen TOPMed
CA383132679 rs1476528433	143	P>S		No	ClinGen TOPMed gnomAD
rs1043688324 CA230381415	145	M>I		No	ClinGen TOPMed
CA383132538 rs1434630159	148	R>S		No	ClinGen gnomAD
CA230381413 rs529936933	151	R>Q		No	ClinGen 1000Genomes TOPMed
rs1167109334 CA383132449	152	A>D		No	ClinGen gnomAD
CA383132417 rs1413641770	153	L>P		No	ClinGen gnomAD
rs775320959 CA6342965	154	A>T		No	ClinGen ExAC gnomAD
CA6342964 rs201157039	155	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA383132336 rs1396618772	157	G>S		No	ClinGen TOPMed
rs1433951893 CA383132248	159	E>G		No	ClinGen TOPMed
rs1221599605 CA383132146	163	S>C		No	ClinGen gnomAD
CA6342961 rs770374014	164	Q>R		No	ClinGen ExAC gnomAD
rs868832012 CA230381395	168	R>H		No	ClinGen gnomAD
rs868832012 CA383132023	168	R>L		No	ClinGen gnomAD
CA383131996 rs1245574001	169	I>S		No	ClinGen TOPMed gnomAD
CA6342959 rs778103239	169	I>V		No	ClinGen ExAC gnomAD
CA230400385 rs900729446	171	T>S		No	ClinGen TOPMed
rs1371662362 CA383164105	173	R>H		No	ClinGen gnomAD
rs759202710 CA6342946	179	V>G		No	ClinGen ExAC gnomAD
rs1428267646 CA383163995	180	K>R		No	ClinGen gnomAD
CA230400374 rs1039269599	185	G>E		No	ClinGen TOPMed
rs1376626472 CA383163886	186	K>E		No	ClinGen TOPMed
rs887938459 CA230400367	187	R>G		No	ClinGen TOPMed
CA230400362 rs904462399	189	S>C		No	ClinGen Ensembl
CA383163812 rs1313615268	189	S>N		No	ClinGen TOPMed
CA6342945 rs773947521	202	Q>R		No	ClinGen ExAC gnomAD
rs1021561840 CA230400355	211	Q>*		No	ClinGen Ensembl
CA383163365 rs1591448267	213	V>I		No	ClinGen Ensembl
CA383163350 rs1282059841	214	L>F		No	ClinGen gnomAD
rs770459926 CA6342944	216	N>Y		No	ClinGen ExAC gnomAD
rs75374326 CA6342943	220	L>F		No	ClinGen ExAC gnomAD
CA6342941 rs781693089 CA6342939	221	Y>*		No	ClinGen ExAC gnomAD
CA6342942 rs772759556	221	Y>F		No	ClinGen ExAC gnomAD
CA6342938 rs769083323	222	Q>P		No	ClinGen ExAC
CA6342935 CA6342934 rs141864382	223	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA6342936 rs780379495	223	E>G		No	ClinGen ExAC
CA6342937 rs747253512	223	E>K		No	ClinGen ExAC
rs779048343 CA6342933	224	L>M		No	ClinGen ExAC
CA383163136 rs1486555640	229	S>G		No	ClinGen TOPMed gnomAD
rs1256352894 CA383163125	229	S>R		No	ClinGen gnomAD
CA383163121 rs1382855345	230	T>A		No	ClinGen gnomAD
CA383163115 rs1338662206	230	T>I		No	ClinGen gnomAD
CA383163108 rs1211099053	231	M>L		No	ClinGen gnomAD
TCGA novel	232	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752576485 CA6342931	234	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA383163059 rs752576485	234	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1236353214 CA383163033	236	Q>R		No	ClinGen TOPMed
CA383162997 rs1457101469	238	D>G		No	ClinGen TOPMed
rs1230263246 CA383162974	239	W>S		No	ClinGen gnomAD
CA6342930 rs767326883	241	N>D		No	ClinGen ExAC gnomAD
rs891635393 CA230400301	242	H>R		No	ClinGen TOPMed gnomAD
CA383162930 rs1191570069	242	H>Y		No	ClinGen TOPMed
CA6342929 rs201700836	243	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383162900 rs1303721145	244	Q>P		No	ClinGen gnomAD
TCGA novel	245	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139994257 CA230400275	245	D>H		No	ClinGen ESP TOPMed gnomAD
rs139994257 CA230400276	245	D>Y		No	ClinGen ESP TOPMed gnomAD
CA230400274 rs1007970867	247	H>R		No	ClinGen Ensembl
rs1160781357 CA383162862	247	H>Y		No	ClinGen gnomAD
rs534171680 CA230400273	248	G>S		No	ClinGen gnomAD
rs1565453625 CA383162834	249	Y>H		No	ClinGen Ensembl
rs769746779 CA230400270	250	P>L		No	ClinGen Ensembl
CA383162803 rs1410551944	251	T>A		No	ClinGen gnomAD
rs1179993203 CA383162773	253	Q>E		No	ClinGen gnomAD
rs889523528 CA230400268	254	E>K		No	ClinGen Ensembl
rs765997798 CA6342927	255	L>S		No	ClinGen ExAC gnomAD
rs375052249 CA230399553	256	D>G		No	ClinGen ESP TOPMed gnomAD
rs1421888519 CA383162594	258	I>T		No	ClinGen gnomAD
CA383162554 rs1421371540	260	V>D		No	ClinGen gnomAD
rs1444477246 CA383162564	260	V>I		No	ClinGen TOPMed
rs1190827174 CA383162543	261	T>A		No	ClinGen gnomAD
CA6342909 rs370755379	271	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs370755379 CA6342910	271	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	272	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1266584225 CA383162378	274	E>K		No	ClinGen TOPMed gnomAD
rs1320350959 CA383162352	275	A>E		No	ClinGen TOPMed gnomAD
rs757989880 CA6342908	275	A>S		No	ClinGen ExAC TOPMed gnomAD
rs757989880 CA383162361	275	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1320350959 CA383162355	275	A>V		No	ClinGen TOPMed gnomAD
CA6342895 rs532163168	277	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA383160336 rs1336488544	278	R>G		No	ClinGen TOPMed
rs1295015294 CA383160330	278	R>K		No	ClinGen TOPMed gnomAD
CA230397009 rs373982320	280	I>S		No	ClinGen ESP TOPMed gnomAD
rs754978277 CA6342894	280	I>V		No	ClinGen ExAC gnomAD
CA383160221 rs1372275746	281	M>T		No	ClinGen gnomAD
rs56345418 CA230397001	281	M>V		No	ClinGen gnomAD
rs1206784276 CA383160108	283	N>K		No	ClinGen TOPMed
rs1259544643 CA383160059	285	V>A		No	ClinGen TOPMed
rs746880614 CA6342893	286	Q>R		No	ClinGen ExAC gnomAD
rs554746383 CA230396976 COSM279246	290	S>L	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs370585286 CA230396991	290	S>T		No	ClinGen ESP TOPMed
rs758162205 CA6342890	293	L>V		No	ClinGen ExAC gnomAD
CA383159779 rs1474315730	297	L>P		No	ClinGen TOPMed
rs1364413827 CA383159744	299	Q>R		No	ClinGen TOPMed
rs1378280289 CA383159739	300	S>G		No	ClinGen gnomAD
CA230396953 rs748757571	303	D>E		No	ClinGen Ensembl
TCGA novel	303	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6342887 rs756943576	307	L>F		No	ClinGen ExAC gnomAD
rs1254648720 CA383159595	308	H>R		No	ClinGen gnomAD
TCGA novel	309	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383159554 rs1183510723	314	A>G		No	ClinGen gnomAD
rs1482967060 CA383159551	315	I>V		No	ClinGen gnomAD
rs201696556 CA230396945	318	I>T		No	ClinGen gnomAD
rs1345217120 CA383159516	320	Y>C		No	ClinGen gnomAD
TCGA novel	320	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA230396941 rs1010454036	320	Y>H		No	ClinGen TOPMed gnomAD
rs753453391 CA6342886	323	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6342885 rs763691374	323	R>H		No	ClinGen ExAC gnomAD
TCGA novel	324	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6342883 rs186387267	329	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6342882 rs540367055	329	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA383159423 rs1231026282	333	A>G		No	ClinGen TOPMed
CA6342881 rs759989882	333	A>S		No	ClinGen ExAC gnomAD
CA6342879 rs372685614	336	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA383159346 rs1472512585	345	L>F		No	ClinGen gnomAD
COSM924394 CA6342874 rs780001210	346	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA6342872 rs745721192	354	P>A		No	ClinGen ExAC gnomAD
rs745721192 CA383159229	354	P>T		No	ClinGen ExAC gnomAD
rs377004376 CA6342870	357	R>Q		No	ClinGen ESP ExAC gnomAD
rs371397423 CA6342871	357	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1268198583 CA383159163	359	I>N		No	ClinGen gnomAD
COSM1676553 CA6342868 COSM1676554 rs777449232	362	R>Q	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA230396848 rs753523660	363	V>G		No	ClinGen Ensembl
rs1448537145 CA383159097	364	Q>*		No	ClinGen gnomAD
rs1565447335 CA383158953	369	K>R		No	ClinGen Ensembl
rs768123408 CA6342865	373	Y>C		No	ClinGen ExAC gnomAD
rs1181107922 CA383158764	375	F>L		No	ClinGen TOPMed
CA6342862 rs766666511	376	L>V		No	ClinGen ExAC gnomAD
CA6342861 rs763172606	378	I>V		No	ClinGen ExAC gnomAD
CA230396832 rs115942177	381	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1400188284 CA383158393	383	A>G		No	ClinGen gnomAD
CA383158416 rs1421167565	383	A>T		No	ClinGen TOPMed
CA6342859 rs769889593	384	R>K		No	ClinGen ExAC TOPMed gnomAD
CA6342856 rs373504603	388	L>P		No	ClinGen ESP ExAC TOPMed
CA6342855 rs745787951	390	M>L		No	ClinGen ExAC TOPMed gnomAD
CA383158171 rs745787951	390	M>V		No	ClinGen ExAC TOPMed gnomAD
CA6342853 rs770802601	392	I>S		No	ClinGen ExAC gnomAD
CA383158129 rs1444751073	392	I>V		No	ClinGen TOPMed gnomAD
rs748980922 CA6342852	393	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1355467037 CA383158057	396	P>S		No	ClinGen gnomAD
rs1244073275 CA383158042	397	I>T		No	ClinGen gnomAD
rs777608881 CA6342851	397	I>V		No	ClinGen ExAC TOPMed gnomAD
rs866883699 CA230396818	404	G>C		No	ClinGen Ensembl
rs369620577 CA6342849	406	N>H		No	ClinGen ESP ExAC gnomAD
rs542477471 CA6342848	409	Q>R		No	ClinGen 1000Genomes ExAC
TCGA novel	410	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA383157526 rs1326181301	414	G>E		No	ClinGen TOPMed gnomAD
CA383157515 rs1406450861	415	G>D		No	ClinGen gnomAD
rs1306381154 CA383157411	419	S>N		No	ClinGen TOPMed
rs868673629 CA230396803	420	P>L		No	ClinGen Ensembl
rs1161993269 CA383157167	430	C>G		No	ClinGen gnomAD
CA383157137 rs1450965809	431	I>F		No	ClinGen gnomAD
CA230396795 rs75587625	432	E>*		No	ClinGen Ensembl
rs1474176366 CA383157047	434	P>L		No	ClinGen gnomAD
CA6342845 rs201439004	434	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	435	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA230396769 rs369300350	437	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6342843 rs369300350	437	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1454791722 CA383156979	438	H>P		No	ClinGen TOPMed
rs1450905715 CA383156983	438	H>Y		No	ClinGen TOPMed gnomAD
CA230396767 rs761578743	441	Q>R		No	ClinGen TOPMed gnomAD
rs368348518 CA6342842	445	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1206982780 CA383156893	445	D>N		No	ClinGen TOPMed gnomAD
CA230396746 rs3177562	447	G>E		No	ClinGen Ensembl
rs3177562 CA230396749	447	G>V		No	ClinGen Ensembl
rs776836927 CA6342840	449	E>Q		No	ClinGen ExAC gnomAD
CA6342838 rs557249865	451	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1276618948 CA383156793	451	R>W		No	ClinGen TOPMed gnomAD
rs774391667 CA6342837	452	V>I		No	ClinGen ExAC gnomAD
rs749145357 CA6342835	456	T>N		No	ClinGen ExAC gnomAD
rs770962110 CA6342836	456	T>P		No	ClinGen ExAC gnomAD
CA6342834 rs777702523	457	L>F		No	ClinGen ExAC gnomAD
rs375812509 CA6342833	459	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA383156654 rs1591436213	460	Q>K		No	ClinGen Ensembl
CA383156648 rs1407794339	460	Q>P		No	ClinGen gnomAD
rs1591436169 CA383156570	465	V>M		No	ClinGen Ensembl
rs747542868 CA6342829	467	I>V		No	ClinGen ExAC gnomAD
CA383156528 rs1483292776	468	E>K		No	ClinGen TOPMed gnomAD
rs780575059 CA6342828	469	P>R		No	ClinGen ExAC gnomAD
CA383156505 rs1405259339	469	P>S		No	ClinGen gnomAD
rs1057004307 CA230396715	470	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1347690444 CA383156485	470	T>I		No	ClinGen TOPMed gnomAD
rs368743937 CA6342825	471	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs757503630 CA6342824	472	I>V		No	ClinGen ExAC gnomAD
rs753947193 CA6342823	474	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1281998951 CA383156360	477	L>F		No	ClinGen TOPMed gnomAD
rs1281998951 CA383156358	477	L>I		No	ClinGen TOPMed gnomAD
CA230396677 rs567819285	478	G>R		No	ClinGen 1000Genomes
rs1430160630 CA383156306	479	I>M		No	ClinGen gnomAD
rs1251217703 CA383156308	479	I>S		No	ClinGen TOPMed
CA383156293 rs1297906360	480	A>V		No	ClinGen gnomAD
rs1345828518 CA383156289	481	E>Q		No	ClinGen gnomAD
rs1439601196 CA383156188	487	Q>E		No	ClinGen gnomAD
CA383156173 rs1360497729	487	Q>H		No	ClinGen gnomAD
CA230396668 rs77165328	490	F>I		No	ClinGen Ensembl
CA6342819 rs766482311	495	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA383155979 rs1426573008	497	T>I		No	ClinGen gnomAD
rs1413286237 CA383155945	499	T>I		No	ClinGen gnomAD
rs773148376 CA6342817	501	S>T		No	ClinGen ExAC gnomAD
rs1565446543 CA383155895	503	D>H		No	ClinGen Ensembl
CA6342816 rs200870886	505	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6342815 rs200870886	505	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200870886 CA383155835	505	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375883009 CA383155762	508	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1211073885 CA383155749	509	G>E		No	ClinGen gnomAD
CA6342813 rs202215390	509	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6342812 rs746567748	512	S>F		No	ClinGen ExAC gnomAD
CA383155566 rs1347627404	517	V>G		No	ClinGen TOPMed
CA383155537 rs1591435796	519	P>S		No	ClinGen Ensembl
CA6342810 rs758969628	520	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746306230 CA6342809	522	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1222466228 CA383155434	524	K>R		No	ClinGen gnomAD
rs1335634658 CA383155386	527	Y>H		No	ClinGen TOPMed
rs149369794 CA6342806	533	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1451454497 CA383155201	536	D>G		No	ClinGen gnomAD
CA383155167 rs1216637174	538	L>V		No	ClinGen TOPMed
rs1485211239 CA383155144	540	A>T		No	ClinGen TOPMed
rs139253598 CA6342804	545	E>Q		No	ClinGen ESP ExAC gnomAD
CA383155043 rs1193391008	547	L>V		No	ClinGen TOPMed
CA6342803 rs752895711	551	I>T		No	ClinGen ExAC TOPMed gnomAD
CA383154924 rs1457723425	551	I>V		No	ClinGen TOPMed gnomAD
CA6342801 rs763001074	554	P>L		No	ClinGen ExAC gnomAD
rs767642075 CA6342802	554	P>T		No	ClinGen ExAC gnomAD
TCGA novel	559	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA230396578 rs376342478	559	N>K		No	ClinGen Ensembl
CA6342800 rs773237967	559	N>S		No	ClinGen ExAC gnomAD

No associated diseases with Q6P1R3

1 regional properties for Q6P1R3

Type	Name	Position	InterPro Accession
domain	Myb/SANT-like DNA-binding domain 4	102 - 198	IPR044822

Functions

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

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

No homologous proteins in AiPD

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

10	20	30	40	50	60
MAAPCGSELP	ANSPLKIPKM	EVLSPASPGG	LSDGNPSLSD	PSTPRGASPL	GPGSAAGSGA
70	80	90	100	110	120
AASGGLGLGL	GGRSAASSSV	SFSPGGGGGG	AAAAAAAACR	GMSWTPAETN	ALIAVWGNER
130	140	150	160	170	180
LVEARYQQLE	GAGTVFGSKA	PGPAMYERVS	RALAELGYER	TPSQCRERIK	TLRRCYSRVK
190	200	210	220	230	240
EHGVGKRKSS	YTFEQLEQVF	GQGGWDAQPC	QPVLINSSGL	YQELESDGST	MEDYSQEDWG
250	260	270	280	290	300
NHSQDLHGYP	TDQELDEIPV	TKRTLKIKQE	SSEEAQKRDI	MQNIVQILES	VQLKWELFQS
310	320	330	340	350	360
WTDFSRLHLS	NKLAIFGIGY	NTRWKEDIRY	HYAEISSQVP	LGKRLREYFN	SEKPEGRIIM
370	380	390	400	410	420
TRVQKMNWKN	VYYKFLEITI	SEARCLELHM	EIDWIPIAHS	KPTGGNVVQY	LLPGGIPKSP
430	440	450	460	470	480
GLYAIGYEEC	IERPLSPHME	QSSLDPGKEG	RVDLETLSAQ	ASLQVEIEPT	RIIYCYLGIA
490	500	510	520	530	540
EVRTLQQCLF	LHFQANTKTF	SKDWVGINGF	LSQNCIVDPG	VSPKSIYIKF	VEVERDFLSA
550
GSLVECLEKA	IGYPLKFNN