AiPD: Autoinhibited Protein Database

Q9BY77

Gene name	POLDIP3 (KIAA1649, PDIP46)
Protein name	Polymerase delta-interacting protein 3
Names	46 kDa DNA polymerase delta interaction protein, p46, S6K1 Aly/REF-like target, SKAR
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84271
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

68-161 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

68-161 (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 Q9BY77

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BY77-F1	Predicted				AlphaFoldDB

369 variants for Q9BY77

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA10269511 rs750499892	2	A>S		No	ClinGen ExAC gnomAD
CA324729260 rs950184944	2	A>V		No	ClinGen Ensembl
rs201550700 CA411810310	3	D>E		No	ClinGen gnomAD
CA324729255 rs915424737	3	D>H		No	ClinGen TOPMed gnomAD
rs915424737 CA411810318	3	D>N		No	ClinGen TOPMed gnomAD
rs753627812 CA10269509	4	I>M		No	ClinGen ExAC TOPMed gnomAD
CA411810302 rs1298214635	4	I>T		No	ClinGen gnomAD
CA10269507 rs763938282	5	S>C		No	ClinGen ExAC TOPMed gnomAD
rs763938282 CA411810290	5	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1458141498 CA411810284	6	L>Q		No	ClinGen gnomAD
rs1430667214 COSM1287293 COSM1287294 CA411810287	6	L>V	autonomic_ganglia Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs377648186 CA10269504	7	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA10269505 rs369044507	7	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	7	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1264537296 CA411810267	8	E>G		No	ClinGen gnomAD
rs1479061243 CA411810271	8	E>K		No	ClinGen gnomAD
rs774049574 CA10269502	10	I>N		No	ClinGen ExAC gnomAD
rs1363317359 CA411810241	11	R>G		No	ClinGen TOPMed
rs138353113 CA10269499	12	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA10269500 rs762757929	12	K>R		No	ClinGen ExAC TOPMed gnomAD
rs747338994 CA411810222	13	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10269496 rs780568620	13	R>P		No	ClinGen ExAC gnomAD
rs747338994 CA10269497	13	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA411810211 rs757458876	14	G>A		No	ClinGen ExAC TOPMed gnomAD
CA10269492 rs757458876	14	G>E		No	ClinGen ExAC TOPMed gnomAD
rs745916629 CA10269494	14	G>R		No	ClinGen ExAC gnomAD
rs757458876 CA10269493	14	G>V		No	ClinGen ExAC TOPMed gnomAD
CA10269490 rs61744232	15	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411810196 rs28627172	16	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs28627172 CA10269489	16	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10269486 rs759428583	20	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1298264174 CA411809643	21	L>R		No	ClinGen TOPMed
CA10269461 rs775911662	22	N>I		No	ClinGen ExAC gnomAD
CA10269460 rs767718682	23	A>T		No	ClinGen ExAC TOPMed gnomAD
CA10269459 rs543946398	25	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA411809609 rs771453339	27	V>F		No	ClinGen ExAC TOPMed gnomAD
CA10269457 rs771453339	27	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1446282512 CA411809600	28	G>E		No	ClinGen gnomAD
rs1361333188 CA411809599	29	G>S		No	ClinGen gnomAD
CA10269456 rs181765863	30	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770048284 CA10269454	31	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1160566631 CA411809577 COSM1034806 COSM1034805	33	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA411809574 rs1440501047	33	R>Q		No	ClinGen gnomAD
rs781487649 CA411809570	34	V>A		No	ClinGen ExAC gnomAD
rs781487649 CA10269452	34	V>G		No	ClinGen ExAC gnomAD
CA10269453 rs748373417	34	V>I		No	ClinGen ExAC TOPMed gnomAD
rs746830483 CA10269450	37	Q>R		No	ClinGen ExAC
CA411809537 rs1188128497	39	G>D		No	ClinGen TOPMed gnomAD
rs1446388839 CA411809533	40	L>F		No	ClinGen gnomAD
CA411809530 rs1460893469	40	L>R		No	ClinGen TOPMed
CA411809518 rs1182019055	42	S>I		No	ClinGen TOPMed
CA411809509 rs1283195385	43	Q>H		No	ClinGen TOPMed gnomAD
rs780089261 CA10269449	45	T>A		No	ClinGen ExAC TOPMed gnomAD
CA10269448 rs758458133	46	R>C		No	ClinGen ExAC gnomAD
rs573390271 CA324725658	46	R>H		No	ClinGen gnomAD
rs764712591 CA10269446	48	A>T		No	ClinGen ExAC gnomAD
CA10269445 rs756805906	49	T>I		No	ClinGen ExAC gnomAD
CA10269444 rs753368286	53	R>K		No	ClinGen ExAC gnomAD
CA411809443 rs1300053783	54	F>Y		No	ClinGen gnomAD
rs570595971 CA10269443	56	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10269441 rs751974690	57	R>Q		No	ClinGen ExAC gnomAD
rs139233981 CA10269442	57	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs200930073 CA10269440	60	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10269438 rs773325445	61	G>A		No	ClinGen ExAC
rs769702488 CA10269437	62	L>F		No	ClinGen ExAC gnomAD
CA411809395 rs769702488	62	L>V		No	ClinGen ExAC gnomAD
CA324725647 rs770721560	64	D>H		No	ClinGen TOPMed gnomAD
CA324725643 rs928554826	66	R>Q		No	ClinGen TOPMed
CA10269434 rs769021753	66	R>W		No	ClinGen ExAC gnomAD
CA10269432 rs780061985	67	L>P		No	ClinGen ExAC
rs1569302657 CA411809357	68	K>N		No	ClinGen Ensembl
CA10269431 rs772123154	70	G>E		No	ClinGen ExAC gnomAD
rs745736942 CA10269430	71	V>I		No	ClinGen ExAC gnomAD
rs778917162 CA324725637	72	K>E		No	ClinGen ExAC TOPMed gnomAD
rs778917162 CA10269429	72	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA10269428 rs756684323	72	K>R		No	ClinGen ExAC gnomAD
CA411809317 rs1429515972	75	R>Q		No	ClinGen TOPMed
CA411809320 rs1316526133	75	R>W		No	ClinGen gnomAD
TCGA novel	78	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755807935 CA10269425	82	D>G		No	ClinGen ExAC gnomAD
CA411809258 rs1456080419	84	R>G		No	ClinGen gnomAD
CA411809248 rs1291891145	85	F>C		No	ClinGen gnomAD
COSM257771 rs751913341 CA10269424 COSM257772	86	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs763386133 CA10269422	86	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10269423 rs763386133	86	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1165131285 CA411809237	87	I>M		No	ClinGen gnomAD
CA10269421 rs749030790	88	K>R		No	ClinGen ExAC TOPMed gnomAD
CA324725628 rs749030790	88	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1322979464 CA411809230	89	G>R		No	ClinGen TOPMed
rs1556015833 CA411809215	91	V>M		No	ClinGen Ensembl
rs967277452 CA324725624	96	E>D		No	ClinGen TOPMed gnomAD
rs1427945460 CA411809152	99	N>K		No	ClinGen TOPMed gnomAD
CA10269419 rs761748423	99	N>S		No	ClinGen ExAC gnomAD
CA10269416 rs761037203	101	R>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	101	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1246931138 CA411809143	101	R>H		No	ClinGen gnomAD
CA10269415 rs775869631	103	Q>K		No	ClinGen ExAC gnomAD
rs1240751686 CA411809110	106	T>A		No	ClinGen TOPMed
rs149213362 CA10269414	106	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs770953540 CA10269412	108	P>H		No	ClinGen ExAC TOPMed gnomAD
CA10269411 rs770953540	108	P>L		No	ClinGen ExAC TOPMed gnomAD
CA411809093 rs777327533	109	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs777327533 CA10269409	109	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs557588990 CA10269407	111	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA10269406 rs537442821	112	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA10269405 rs371489323	112	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA411809073 rs371489323	112	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1346785466 CA411809065	113	Q>H		No	ClinGen TOPMed
rs1315737622 CA411809067	113	Q>L		No	ClinGen TOPMed
rs570424203 CA10269403	116	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA324725607 rs369127276	117	A>T		No	ClinGen ESP TOPMed gnomAD
CA10269402 rs374659326	118	R>Q	Variant assessed as Somatic; 9.367e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA411809039 rs1358520053	118	R>W		No	ClinGen gnomAD
rs1425333162 CA411809021	120	K>N		No	ClinGen gnomAD
rs773725601	120	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1240361429 CA411809011	122	S>C		No	ClinGen gnomAD
rs199868215 CA324725600	127	S>F		No	ClinGen 1000Genomes TOPMed gnomAD
CA411808963 rs1254758992	129	A>T		No	ClinGen gnomAD
rs201038482 CA10269398	130	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1312820432 CA411808934	133	N>S		No	ClinGen gnomAD
rs1306441197 CA411808925	134	P>L		No	ClinGen gnomAD
rs1238198125 CA411808919	135	P>L		No	ClinGen gnomAD
rs371638891 CA10269397	136	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA411808912 rs1311111685	137	G>R		No	ClinGen gnomAD
CA10269396 rs149658111	138	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA324725593 rs759232713	141	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10269395 rs759232713	141	P>R		No	ClinGen ExAC TOPMed gnomAD
rs996577460 CA324725595	141	P>S		No	ClinGen Ensembl
rs1300999378 CA411808862	145	L>P		No	ClinGen gnomAD
rs1467567865 CA411808858	146	T>N		No	ClinGen gnomAD
CA411808854 rs1202159903	147	K>Q		No	ClinGen TOPMed
rs1157549373 CA411808851	147	K>R		No	ClinGen gnomAD
CA411808840 rs966068565	149	I>F		No	ClinGen gnomAD
rs966068565 CA324725589	149	I>V		No	ClinGen gnomAD
CA10269361 rs373787080	151	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA10269362 rs373787080	151	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA411808691 rs1411585275	153	Q>*		No	ClinGen gnomAD
CA411808692 rs1411585275	153	Q>E		No	ClinGen gnomAD
rs911977009 CA324725400	154	Q>H		No	ClinGen TOPMed
rs751740554 CA10269358	155	K>E		No	ClinGen ExAC gnomAD
CA10269356 rs762689225	157	M>I		No	ClinGen ExAC TOPMed gnomAD
rs766544443 CA10269357	157	M>T		No	ClinGen ExAC gnomAD
rs536453951 CA10269355	158	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	159	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs569033722 CA10269354	159	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs569033722 CA10269353	159	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs775991816 CA10269352	160	L>V		No	ClinGen ExAC gnomAD
CA411808640 rs1170786034	161	H>R		No	ClinGen TOPMed
CA10269350 rs760133904	162	P>S		No	ClinGen ExAC gnomAD
rs775158755 CA10269349	163	H>R		No	ClinGen ExAC TOPMed gnomAD
CA324725387 rs556594144	164	P>L		No	ClinGen gnomAD
CA10269346 rs778345589	166	G>E		No	ClinGen ExAC TOPMed gnomAD
CA10269347 rs146437791	166	G>R	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs199512692 CA10269345	167	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA411808590 rs151088327	169	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411808591 rs151088327	169	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151088327 CA10269344	169	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411808594 rs1379492949	169	I>V		No	ClinGen gnomAD
CA411808582 rs1237290847	170	N>K		No	ClinGen gnomAD
CA10269343 rs781558308	170	N>S		No	ClinGen ExAC TOPMed gnomAD
CA10269342 rs755049373	171	V>A		No	ClinGen ExAC gnomAD
TCGA novel	172	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10269341 rs751616125	173	N>D		No	ClinGen ExAC gnomAD
CA10269340 rs139233040	173	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10269338 rs750215120	175	H>Y		No	ClinGen ExAC gnomAD
rs765074556 CA10269337	176	Q>E		No	ClinGen ExAC gnomAD
rs1278944680 CA411808538	177	A>V		No	ClinGen TOPMed
CA411808529 rs1375708586	178	K>N		No	ClinGen gnomAD
CA324724758 rs537106981	182	Y>C		No	ClinGen TOPMed
rs943621203 CA324724760	182	Y>H		No	ClinGen TOPMed
CA411808469 rs1601895829	185	D>G		No	ClinGen Ensembl
rs752234626 CA10269307	187	D>G		No	ClinGen ExAC gnomAD
rs1415114141 CA411808444	188	D>E		No	ClinGen TOPMed
rs923762010 CA324724753	189	D>G		No	ClinGen Ensembl
rs767074100 CA10269306	189	D>N		No	ClinGen ExAC gnomAD
rs1162459218 CA411808434	190	G>D		No	ClinGen gnomAD
CA10269305 rs759126259	190	G>S		No	ClinGen ExAC gnomAD
rs979695380 CA324724750	191	I>T		No	ClinGen TOPMed gnomAD
rs1158405628 CA411808431	191	I>V		No	ClinGen TOPMed
TCGA novel	192	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774110828 CA10269304	192	A>V		No	ClinGen ExAC TOPMed gnomAD
CA324724743 rs747224273	194	V>I		No	ClinGen TOPMed gnomAD
CA10269301 rs199649790	195	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA324724740 rs199649790	195	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10269300 rs142177671	196	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs758545812 CA324724739	196	T>P		No	ClinGen Ensembl
rs148681314 CA10269299	197	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs955390918 CA324724736	199	M>L		No	ClinGen gnomAD
CA411808385 rs955390918	199	M>V		No	ClinGen gnomAD
CA10269298 rs775990651	200	K>R		No	ClinGen ExAC gnomAD
CA10269297 rs772099154	202	A>V		No	ClinGen ExAC TOPMed gnomAD
CA411808354 rs1226972296	203	A>G		No	ClinGen gnomAD
CA411808350 rs1218616630	204	S>L		No	ClinGen gnomAD
CA10269295 rs779083875	204	S>P		No	ClinGen ExAC TOPMed gnomAD
CA411808345 rs1272379518	205	G>D		No	ClinGen TOPMed
CA10269294 rs144152039	205	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA411808342 rs755947684	206	G>R		No	ClinGen ExAC TOPMed gnomAD
rs755947684 CA10269291	206	G>S		No	ClinGen ExAC TOPMed gnomAD
rs752505864 CA10269290	206	G>V		No	ClinGen ExAC gnomAD
CA411808326 rs1321900334	208	L>H		No	ClinGen gnomAD
CA411808325 rs1321900334	208	L>P		No	ClinGen gnomAD
CA411808329 rs1569300586	208	L>V		No	ClinGen Ensembl
rs376795972 CA10269288	209	H>N		No	ClinGen ExAC TOPMed gnomAD
CA10269287 rs376795972	209	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA10269285 rs762581666	211	M>K		No	ClinGen ExAC TOPMed gnomAD
rs766101784 CA10269286	211	M>V		No	ClinGen ExAC gnomAD
CA411808106 rs1190769308	212	A>V		No	ClinGen gnomAD
rs372428867 CA10269240	216	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA324724003 rs931813332	217	S>A		No	ClinGen TOPMed gnomAD
rs778399463 CA10269238	218	K>E		No	ClinGen ExAC gnomAD
rs756968816 CA10269237	218	K>R		No	ClinGen ExAC gnomAD
CA10269236 rs530959339	220	S>A		No	ClinGen 1000Genomes ExAC gnomAD
CA411808058 rs1168108312	220	S>F		No	ClinGen Ensembl
CA411808061 rs530959339	220	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs796647560 CA324724001	221	M>V		No	ClinGen TOPMed
CA10269234 rs759895546	222	S>P		No	ClinGen ExAC gnomAD
CA10269233 rs752018107	223	K>E		No	ClinGen ExAC gnomAD
CA324724000 rs921777959	224	A>V		No	ClinGen TOPMed gnomAD
CA411808029 rs1397686941	225	L>H		No	ClinGen gnomAD
rs1386689988 CA411808021	226	P>L		No	ClinGen gnomAD
CA10269232 rs766927451 COSM3363686	227	L>V	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1348554197 CA411808014	228	T>A		No	ClinGen TOPMed gnomAD
rs1348554197 CA411808013	228	T>S		No	ClinGen TOPMed gnomAD
rs765375575 CA10269229	229	K>Q		No	ClinGen ExAC gnomAD
rs545368564 CA10269228	229	K>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1466126834 CA411808003	230	V>M		No	ClinGen TOPMed
CA10269227 rs777007945	231	V>L		No	ClinGen ExAC TOPMed gnomAD
rs900300906 CA324723999	233	N>S		No	ClinGen Ensembl
CA10269226 CA324723998 rs369338847	234	D>E		No	ClinGen ESP ExAC gnomAD
TCGA novel	234	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10269225 rs746832668	235	A>E		No	ClinGen ExAC gnomAD
rs1601890949 CA411807970	235	A>T		No	ClinGen Ensembl
CA411807967 rs746832668	235	A>V		No	ClinGen ExAC gnomAD
CA411807948 rs1403680474	238	A>G		No	ClinGen TOPMed
CA10269224 rs775266432	239	P>H		No	ClinGen ExAC
rs1009374643 CA324723997	241	L>H		No	ClinGen Ensembl
rs142034962 CA324723996	244	S>A		No	ClinGen 1000Genomes
rs1271068285 CA411807915	244	S>C		No	ClinGen gnomAD
CA411807908 rs1341085003	245	I>S		No	ClinGen TOPMed
CA411807912 rs1336429519	245	I>V		No	ClinGen TOPMed
TCGA novel	246	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200124663 CA411807903	246	R>P		No	ClinGen ExAC TOPMed gnomAD
CA10269222 rs200124663	246	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA411807902 rs1335403000	247	T>P		No	ClinGen gnomAD
rs1216249244 CA411807887	249	A>P		No	ClinGen gnomAD
rs1216249244 CA411807888	249	A>T		No	ClinGen gnomAD
rs756770568 CA10269220	249	A>V		No	ClinGen ExAC
TCGA novel	251	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199686677 CA324723995	252	N>D		No	ClinGen 1000Genomes TOPMed
rs748871330 CA10269219	252	N>T		No	ClinGen ExAC
rs1327738617 CA411807853	253	M>I		No	ClinGen gnomAD
rs1385914300 CA411807844	255	R>P		No	ClinGen TOPMed gnomAD
CA411807845 rs1385914300	255	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10269218 rs777430283	255	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10269217 rs755283036	256	T>S		No	ClinGen ExAC gnomAD
CA10269215 rs766769284	260	K>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	261	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411807790 rs1373755599	263	P>L		No	ClinGen gnomAD
rs376519401 CA411807785	264	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376519401 CA10269213	264	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10269212 rs554328632	265	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs899420922 CA324723993	267	L>Q		No	ClinGen TOPMed
CA411807762 rs1569298565	268	P>R		No	ClinGen Ensembl
rs761991813 CA10269211	268	P>S		No	ClinGen ExAC gnomAD
rs1426887129 CA411807760	269	A>S		No	ClinGen TOPMed
rs1468800561 CA411807744	271	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs750876956 CA10269196	272	P>R		No	ClinGen ExAC gnomAD
rs1234636827 CA411807721	273	V>I		No	ClinGen gnomAD
CA411807715 rs1353383919	274	L>F		No	ClinGen gnomAD
CA411807713 rs1303219300	274	L>P		No	ClinGen TOPMed
TCGA novel	278	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411807671 rs1336871721	280	T>I		No	ClinGen gnomAD
rs770653011 CA10269194 COSM1034801	283	T>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs770653011 CA10269193	283	T>S		No	ClinGen ExAC TOPMed gnomAD
rs764407252 CA10269192	284	V>M		No	ClinGen ExAC TOPMed gnomAD
rs752873973 CA10269190	288	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs767272761 CA10269189	289	P>L		No	ClinGen ExAC TOPMed gnomAD
CA324723916 rs568094746	290	R>Q		No	ClinGen TOPMed
CA324723915 rs866386655	292	T>S		No	ClinGen TOPMed
CA411807586 rs1471083424	294	E>*		No	ClinGen gnomAD
rs1471752651 CA411807525	300	F>L		No	ClinGen TOPMed
CA411807503 rs1459745170	303	C>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM188103 rs1324982005 CA411807507	303	C>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	304	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10269160 rs768244462	306	L>V		No	ClinGen ExAC gnomAD
CA10269159 rs752013057	307	K>R		No	ClinGen ExAC gnomAD
CA411807467 TCGA novel rs1601885860	310	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA411807440 rs1416818706	314	P>R		No	ClinGen gnomAD
rs1187864745 CA411807420	317	A>V		No	ClinGen gnomAD
CA411807406 rs1601885836	319	V>G		No	ClinGen Ensembl
rs1246433012 CA411807402	320	V>A		No	ClinGen gnomAD
CA411807405 rs1197688368	320	V>M		No	ClinGen gnomAD
TCGA novel	325	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766828845 CA411807361	326	D>H		No	ClinGen gnomAD
CA324723457 rs766828845	326	D>N		No	ClinGen gnomAD
rs756165273 CA411807334	330	A>S		No	ClinGen ExAC gnomAD
rs756165273 CA10269154	330	A>T		No	ClinGen ExAC gnomAD
CA10269153 rs61168909	332	K>N		No	ClinGen ExAC gnomAD
rs768463935 CA324723454	333	K>E		No	ClinGen Ensembl
CA411807292 rs1229853631	336	N>H		No	ClinGen TOPMed
rs1476300414 CA411807288	336	N>S		No	ClinGen Ensembl
rs1438420728 CA411807282	337	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA411807283 rs1288361020	337	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA411807122 rs1257788551	343	P>L		No	ClinGen TOPMed
CA10269134 rs200840342	347	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572593937 CA10269132	350	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA411807029 rs1417769230	351	N>S		No	ClinGen gnomAD
rs141053448 CA10269130	354	V>I		No	ClinGen ESP ExAC gnomAD
TCGA novel	355	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411806987 rs1482948686	355	I>T		No	ClinGen gnomAD
TCGA novel	355	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA324722930 rs368081483	358	D>E		No	ClinGen ESP
TCGA novel	359	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1213226930 CA411806950	359	Q>K		No	ClinGen gnomAD
CA411806673 rs1191254773	364	R>Q		No	ClinGen gnomAD
CA10269095 rs762274348	364	R>W	Variant assessed as Somatic; 4.722e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10269094 rs376410261	367	D>H		No	ClinGen ESP ExAC gnomAD
CA10269093 rs60359379	368	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10269092 rs766357734	368	S>R		No	ClinGen ExAC TOPMed gnomAD
rs772152006 CA10269090	371	M>V		No	ClinGen ExAC gnomAD
rs746008482 CA10269089	373	K>R		No	ClinGen ExAC gnomAD
CA324718600 rs967955317	374	E>D		No	ClinGen TOPMed gnomAD
COSM1740757 rs779226898 CA10269088	374	E>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA411806589 rs1569293901	375	S>G		No	ClinGen Ensembl
rs770581118 CA10269087	375	S>N		No	ClinGen ExAC gnomAD
rs200775571 CA10269086	375	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10269084 rs375166655	376	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA411806584 rs375166655	376	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs780794223 CA10269082	377	L>V		No	ClinGen ExAC gnomAD
CA10269081 rs754543004	378	P>L		No	ClinGen ExAC TOPMed gnomAD
CA411806569 rs754543004	378	P>R		No	ClinGen ExAC TOPMed gnomAD
rs143816327 CA10269080	379	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs766082336 CA10269079	379	R>H		No	ClinGen ExAC TOPMed gnomAD
rs766082336 CA411806565	379	R>L		No	ClinGen ExAC TOPMed gnomAD
CA411806562 rs1463663495	380	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA411806552 rs1449667556	381	V>G		No	ClinGen TOPMed
CA411806534 rs1453537869	384	A>G		No	ClinGen gnomAD
rs1173295918 CA411806536	384	A>T		No	ClinGen TOPMed gnomAD
rs199622002 CA10269077	385	S>A		No	ClinGen ExAC TOPMed gnomAD
rs764582738 CA411806528	385	S>C		No	ClinGen ExAC TOPMed gnomAD
rs764582738 CA10269076	385	S>F		No	ClinGen ExAC TOPMed gnomAD
CA10269075 rs775980413	386	S>C		No	ClinGen ExAC gnomAD
CA10269074 rs775980413	386	S>F		No	ClinGen ExAC gnomAD
rs772097214 CA10269073	388	N>S		No	ClinGen ExAC TOPMed gnomAD
rs772097214 CA411806513	388	N>T		No	ClinGen ExAC TOPMed gnomAD
rs201431591 CA324718549	389	P>S		No	ClinGen TOPMed gnomAD
CA324718553 rs201431591	389	P>T		No	ClinGen TOPMed gnomAD
rs759683794 CA10269072	390	P>S		No	ClinGen ExAC TOPMed gnomAD
rs759683794 CA411806506	390	P>T		No	ClinGen ExAC TOPMed gnomAD
CA324718541 rs1031990459	391	A>V		No	ClinGen Ensembl
rs199741983 CA324718537	396	D>H		No	ClinGen Ensembl
CA324718533 rs865988895	397	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs938448368 CA324718529	398	I>V		No	ClinGen TOPMed
rs538165276 CA10269070	399	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA411806442 rs1335695196	400	K>R		No	ClinGen gnomAD
CA411806431 rs1393187632	402	L>V		No	ClinGen gnomAD
CA411806407 rs1235527218	405	S>Y		No	ClinGen TOPMed
rs1019863281 CA324718518	408	A>S		No	ClinGen TOPMed
rs148180198 CA10269065	408	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10269063 rs746581973	411	T>A		No	ClinGen ExAC gnomAD
rs779541421 CA10269062	411	T>I		No	ClinGen ExAC
CA10269060 COSM188098 rs113566870	412	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs113566870 CA10269061	412	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10269057 rs753152847	414	P>S		No	ClinGen ExAC TOPMed gnomAD
CA10269056 rs369138457	416	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1362786072 CA411806349	416	E>K		No	ClinGen TOPMed
TCGA novel	419	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411806326 rs1412381521	419	I>V		No	ClinGen TOPMed
CA10269055 rs145272245	420	K>N		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with Q9BY77

2 regional properties for Q9BY77

Type	Name	Position	InterPro Accession
domain	RNA recognition motif domain	280 - 351	IPR000504
domain	PDIP3, RNA recognition motif	280 - 348	IPR034784

Functions

		Description
EC Number
Subcellular Localization	Nucleus Nucleus speckle Cytoplasm	Nucleocytoplasmic shuttling protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic ribonucleoprotein granule	A ribonucleoprotein granule located in the cytoplasm.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

3 GO annotations of molecular function

Name	Definition
mRNA binding	Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
protein-containing complex binding	Binding to a macromolecular complex.
RNA binding	Binding to an RNA molecule or a portion thereof.

3 GO annotations of biological process

Name	Definition
mRNA export from nucleus	The directed movement of mRNA from the nucleus to the cytoplasm.
poly(A)+ mRNA export from nucleus	The directed movement of poly(A)+ mRNA out of the nucleus into the cytoplasm.
positive regulation of translation	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q12159	YRA1	RNA annealing protein YRA1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q8BG81	Poldip3	Polymerase delta-interacting protein 3	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MADISLDELI	RKRGAAAKGR	LNARPGVGGV	RSRVGIQQGL	LSQSTRTATF	QQRFDARQKI
70	80	90	100	110	120
GLSDARLKLG	VKDAREKLLQ	KDARFRIKGK	VQDAREMLNS	RKQQTTVPQK	PRQVADAREK
130	140	150	160	170	180
ISLKRSSPAA	FINPPIGTVT	PALKLTKTIQ	VPQQKAMAPL	HPHPAGMRIN	VVNNHQAKQN
190	200	210	220	230	240
LYDLDEDDDG	IASVPTKQMK	FAASGGFLHH	MAGLSSSKLS	MSKALPLTKV	VQNDAYTAPA
250	260	270	280	290	300
LPSSIRTKAL	TNMSRTLVNK	EEPPKELPAA	EPVLSPLEGT	KMTVNNLHPR	VTEEDIVELF
310	320	330	340	350	360
CVCGALKRAR	LVHPGVAEVV	FVKKDDAITA	YKKYNNRCLD	GQPMKCNLHM	NGNVITSDQP
370	380	390	400	410	420
ILLRLSDSPS	MKKESELPRR	VNSASSSNPP	AEVDPDTILK	ALFKSSGASV	TTQPTEFKIK

L