AiPD: Autoinhibited Protein Database

Q9Y312

Gene name	AAR2 (C20orf4, CGI-23, PRO0225)
Protein name	Protein AAR2 homolog
Names	AAR2 splicing factor homolog
Species	Homo sapiens (Human)
KEGG Pathway	hsa:25980
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

137-270 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

137-270 (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

2 structures for Q9Y312

Entry ID	Method	Resolution	Chain	Position	Source
7PJH	X-ray	235 A	A	1-384	PDB
AF-Q9Y312-F1	Predicted				AlphaFoldDB

309 variants for Q9Y312

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000490936 rs746800707 CA9840480	174	V>M	Global developmental delay [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1569423253 CA408806994	2	A>G		No	ClinGen Ensembl
rs565234880 CA314213522	4	V>M		No	ClinGen 1000Genomes TOPMed gnomAD
CA9840382 rs776305579	5	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs764982078 CA9840384	6	M>I		No	ClinGen ExAC gnomAD
CA9840383 rs772983440	6	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1016923563 CA314213535	6	M>V		No	ClinGen Ensembl
CA408807078 rs1348451129	8	P>S		No	ClinGen gnomAD
CA9840386 rs762861786	10	L>P		No	ClinGen ExAC gnomAD
CA9840385 rs750177454	10	L>V		No	ClinGen ExAC gnomAD
rs766202428 CA9840387	13	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9840388 rs140129195 COSM1713416	13	R>H	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA314213553 rs760374961	14	L>P		No	ClinGen TOPMed gnomAD
CA408807152 rs1447116346	14	L>V		No	ClinGen TOPMed
rs1601173489 CA408807158	15	F>V		No	ClinGen Ensembl
rs966894164 CA314213557	16	F>L		No	ClinGen TOPMed
CA408807174 rs1569423357	17	E>G		No	ClinGen Ensembl
rs781199193 CA9840390	18	G>E		No	ClinGen ExAC gnomAD
rs930653490 CA314213590	19	A>S		No	ClinGen gnomAD
CA408807191 rs1482513207	20	T>A		No	ClinGen gnomAD
TCGA novel	20	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756325552 CA9840392	22	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1402548703 CA408807227	26	M>V		No	ClinGen TOPMed
rs149863164 CA9840394	28	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA314213616 rs925566948	29	G>E		No	ClinGen TOPMed gnomAD
rs771368429 CA9840395	30	T>I		No	ClinGen ExAC gnomAD
rs746330099 CA9840397	36	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1184662931 CA408807302	37	N>D		No	ClinGen TOPMed
CA9840398 rs772724417	39	W>R		No	ClinGen ExAC gnomAD
CA408807330 rs1428030070	40	E>D		No	ClinGen TOPMed gnomAD
CA314213634 rs201329835	42	G>R		No	ClinGen TOPMed gnomAD
CA314213636 COSM1683113 rs11551426	44	K>E	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
CA408807352 rs1302121890	44	K>R		No	ClinGen gnomAD
rs1376876429 CA408807361	45	F>C		No	ClinGen gnomAD
CA9840402 rs772963408	46	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9840401 rs769313669	46	R>W		No	ClinGen ExAC TOPMed gnomAD
CA408807370 rs1284284059	47	G>D		No	ClinGen TOPMed
rs111591742 CA9840404	48	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs111591742 CA9840405	48	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1437839351 CA408807391	50	M>I		No	ClinGen TOPMed gnomAD
CA9840406 rs759410895	50	M>K		No	ClinGen ExAC gnomAD
rs1208812913 CA408807412	54	G>S		No	ClinGen gnomAD
CA408807418 rs1601173674	55	I>L		No	ClinGen Ensembl
CA408807422 rs1361241066	55	I>T		No	ClinGen gnomAD
rs764193799 CA9840410	60	Y>C		No	ClinGen ExAC gnomAD
CA9840409 rs756235658	60	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1433074355 CA408807465	61	S>T		No	ClinGen TOPMed
CA9840411 rs754053467	62	S>C		No	ClinGen ExAC gnomAD
CA408807473 rs754053467	62	S>F		No	ClinGen ExAC gnomAD
CA314213701 rs374278370	63	V>E		No	ClinGen TOPMed gnomAD
CA408807475 rs1601173738	63	V>L		No	ClinGen Ensembl
CA9840412 rs757445782	64	D>N		No	ClinGen ExAC gnomAD
CA9840413 rs779282101	68	P>L		No	ClinGen ExAC TOPMed gnomAD
rs530309921 CA9840417	71	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA9840416 rs142811213	71	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA408807538 rs1449261609	72	G>V		No	ClinGen TOPMed
CA408807544 rs1312025009	73	P>L		No	ClinGen Ensembl
rs1364120477 CA408807545	74	R>C		No	ClinGen gnomAD
CA408807548 rs769382754	74	R>H		No	ClinGen ExAC gnomAD
rs769382754 CA9840418	74	R>L		No	ClinGen ExAC gnomAD
CA408807549 rs769382754	74	R>P		No	ClinGen ExAC gnomAD
CA408807555 CA9840419 rs147662826	75	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA314213732 rs201549531	75	M>K		No	ClinGen Ensembl
CA408807551 rs1299454814	75	M>V		No	ClinGen gnomAD
CA9840420 rs748920139	76	G>D		No	ClinGen ExAC
rs1002180324 CA314213738	82	H>L		No	ClinGen TOPMed
rs1002180324 CA408807600	82	H>P		No	ClinGen TOPMed
CA408807603 rs774065363	82	H>Q		No	ClinGen ExAC gnomAD
CA408807599 rs1486678310	82	H>Y		No	ClinGen TOPMed
CA314213759 rs142460450	84	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA408807612 rs373216629	84	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA9840424 rs373216629	84	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9840423 rs142460450	84	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA408807616 rs1341201160	85	G>E		No	ClinGen TOPMed
rs775448962 CA9840425	85	G>R		No	ClinGen ExAC TOPMed gnomAD
CA408807630 rs1463772445	88	V>M		No	ClinGen gnomAD
CA9840429 rs548506013	90	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9840430 rs375291820	90	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA314213776 rs375291820	90	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA314213775 rs375291820	90	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA9840431 rs750800240	92	S>N		No	ClinGen ExAC gnomAD
CA9840432 rs758879813	95	R>G		No	ClinGen ExAC gnomAD
rs780673670 CA9840433	96	E>K		No	ClinGen ExAC gnomAD
rs1013661836 CA314213788	98	V>A		No	ClinGen TOPMed gnomAD
rs747476412 CA9840434	98	V>I		No	ClinGen ExAC gnomAD
rs1021086767 CA314213806	99	D>E		No	ClinGen TOPMed
CA408807706 rs1435256812	100	L>P		No	ClinGen gnomAD
rs1326696355 CA408807704	100	L>V		No	ClinGen gnomAD
CA9840435 rs755461449	102	P>A		No	ClinGen ExAC gnomAD
CA9840436 rs777278054	102	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA408807721 rs1601173994	103	A>D		No	ClinGen Ensembl
rs748751730 CA9840438	104	P>A		No	ClinGen ExAC gnomAD
rs778587109 CA9840440	105	E>D		No	ClinGen ExAC gnomAD
COSM224031 rs770612106 CA9840439	105	E>K	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9840441 rs745632232	106	S>T		No	ClinGen ExAC gnomAD
rs751659734 CA9840442	107	E>V		No	ClinGen ExAC TOPMed gnomAD
rs775287748 CA9840443	108	V>A		No	ClinGen ExAC gnomAD
CA314213829 rs537933325	111	M>T		No	ClinGen Ensembl
CA314213831 rs1032562842	114	N>D		No	ClinGen TOPMed
rs147834617 CA408807794	115	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs147834617 CA9840444	115	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA408807805 rs1378299702	116	Q>H		No	ClinGen Ensembl
CA408807814 rs970697472	117	E>D		No	ClinGen Ensembl
TCGA novel	119	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA314213854 rs999598615	119	D>G		No	ClinGen Ensembl
CA9840448 rs761860611	123	G>E		No	ClinGen ExAC gnomAD
CA408807848 rs1569423870	123	G>R		No	ClinGen Ensembl
CA408807855 rs1249540586	124	P>H		No	ClinGen TOPMed
CA9840449 VAR_048127 rs6121183	124	P>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA408807864 rs1404405730	125	Y>*		No	ClinGen gnomAD
CA9840450 rs199966492	126	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA408807879 rs1427780403	128	A>T		No	ClinGen TOPMed gnomAD
rs766799042 CA9840452	131	K>R		No	ClinGen ExAC gnomAD
CA408807954 rs1349214878	133	W>G		No	ClinGen gnomAD
CA314213890 rs757481964	136	L>R		No	ClinGen Ensembl
rs1601174152 CA408808019	137	T>P		No	ClinGen Ensembl
CA9840453 rs751882156	138	N>K		No	ClinGen ExAC gnomAD
rs1356008286 CA408808110	142	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	144	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781615324 CA9840456	144	T>I		No	ClinGen ExAC TOPMed gnomAD
CA9840458 rs373127299	145	V>A		No	ClinGen ExAC TOPMed gnomAD
rs373127299 CA9840459	145	V>G		No	ClinGen ExAC TOPMed gnomAD
CA9840457 rs570444876	145	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1421626642 CA408808191	147	K>E		No	ClinGen gnomAD
CA9840461 rs771729009	149	Q>E		No	ClinGen ExAC gnomAD
rs1471580657 CA408808228	150	P>R		No	ClinGen gnomAD
CA408808232 rs1364161394	151	E>K		No	ClinGen TOPMed gnomAD
rs1358908966 CA408808239	152	N>D		No	ClinGen TOPMed
CA9840463 rs374203470	153	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9840464 COSM1026358 rs768628432	153	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs34390439 CA9840465	154	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs201761855 CA9840467	154	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9840466 rs377708694	154	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9840468 rs773445065	156	C>R		No	ClinGen ExAC gnomAD
CA408808278 rs1369483625	158	F>S		No	ClinGen gnomAD
CA9840469 rs201609790	160	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372602653 CA9840471	161	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs753104874 CA9840474	162	L>R		No	ClinGen ExAC gnomAD
CA9840473 rs768037630	162	L>V		No	ClinGen ExAC gnomAD
rs1262217899 CA408808328	167	M>V		No	ClinGen TOPMed
CA408808336 rs1326006547	168	K>*		No	ClinGen TOPMed
CA408808357 rs1245638079	170	T>I		No	ClinGen Ensembl
CA9840476 rs778338068	171	K>R		No	ClinGen ExAC TOPMed gnomAD
CA408808375 rs1196451527	173	R>C		No	ClinGen gnomAD
CA9840478 rs769126744 COSM186117	173	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9840481 rs746800707 CA408808378	174	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9840482 rs781069168 COSM723874	176	Q>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA9840484 rs747984876	177	N>I		No	ClinGen ExAC TOPMed gnomAD
CA9840483 rs747984876	177	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1387932119 CA408808408	179	P>S		No	ClinGen gnomAD
rs200929659 CA9840486 COSM1751424	180	R>C	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9840487 rs138947526	180	R>H		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	181	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774478093 CA9840488	182	G>A		No	ClinGen ExAC TOPMed gnomAD
CA408808427 rs774478093	182	G>D		No	ClinGen ExAC TOPMed gnomAD
rs370233623 CA9840490	183	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA314214091 rs1038239797	183	I>V		No	ClinGen TOPMed
rs761105630 CA9840492	185	C>R		No	ClinGen ExAC TOPMed gnomAD
CA9840493 rs374608307	185	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA9840494 rs749926117	187	S>R		No	ClinGen ExAC gnomAD
rs1228304718 CA408808463	187	S>T		No	ClinGen gnomAD
rs757956329 CA9840495	188	Y>N		No	ClinGen ExAC TOPMed
rs896478501 CA314214103	189	Q>*		No	ClinGen TOPMed
CA408808528 rs1181572703	190	E>D		No	ClinGen TOPMed
CA408808565 rs1222772187	193	A>V		No	ClinGen TOPMed gnomAD
rs368104861 CA408808571	194	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs201316006 CA314214121	194	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs201316006 COSM186118 CA9840497	194	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs368104861 CA9840496	194	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1244751295 CA408808593	196	P>S		No	ClinGen gnomAD
rs1262511784 COSM1713417 CA408808661	200	P>S	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1046622376 CA314214128	201	R>G		No	ClinGen Ensembl
rs747959052 CA9840500	202	A>S		No	ClinGen ExAC gnomAD
rs1193323969 CA408808707	203	G>R		No	ClinGen gnomAD
CA408808743 rs1376523914	205	E>G		No	ClinGen gnomAD
CA9840502 rs777915080	207	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9840503 rs749356105	207	R>H		No	ClinGen ExAC TOPMed gnomAD
CA314214186 rs1032942833	208	F>L		No	ClinGen TOPMed gnomAD
rs771094947 CA9840504	210	E>*		No	ClinGen ExAC gnomAD
TCGA novel	210	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408808825 rs1318929354	210	E>G		No	ClinGen gnomAD
COSM1026359 CA408808872 rs1364398348	213	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA314214201 rs200342935	214	Q>*		No	ClinGen 1000Genomes
rs879221823 CA314214205	214	Q>H		No	ClinGen gnomAD
rs746020778 CA9840506	215	M>I		No	ClinGen ExAC TOPMed gnomAD
rs772345367 CA9840507	216	F>S		No	ClinGen ExAC gnomAD
rs1382311565 CA408808926	217	P>L		No	ClinGen TOPMed
rs1324161571 CA408808930	218	E>A		No	ClinGen gnomAD
rs764566378 CA408808938	219	G>A		No	ClinGen ExAC TOPMed gnomAD
rs761088980 CA9840509	219	G>S		No	ClinGen ExAC gnomAD
rs764566378 CA9840510	219	G>V		No	ClinGen ExAC TOPMed gnomAD
CA408808951 COSM3693460 rs1486657267	221	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs762334505 CA9840512	222	P>T		No	ClinGen ExAC gnomAD
rs1385562141 CA408808993	224	E>K		No	ClinGen TOPMed
CA408809019 rs1425317709	225	I>R		No	ClinGen TOPMed gnomAD
rs1472533242 CA408809039	226	T>I		No	ClinGen gnomAD
rs1445551908 CA408809090	229	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs754518212 CA9840516	230	M>R		No	ClinGen ExAC gnomAD
CA9840515 rs751091834	230	M>V		No	ClinGen ExAC gnomAD
rs964574448 CA314214289	235	A>T		No	ClinGen TOPMed gnomAD
rs770583152 CA408809212	239	V>L		No	ClinGen TOPMed gnomAD
rs770583152 CA314214291	239	V>M		No	ClinGen TOPMed gnomAD
rs139427095 CA9840521	241	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA408809284 rs1216228821	243	Q>*		No	ClinGen gnomAD
CA408809296 rs776466542	243	Q>H		No	ClinGen TOPMed gnomAD
TCGA novel	248	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	249	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9840522 rs757233528	249	Q>R		No	ClinGen ExAC gnomAD
CA314214309 rs182782634	250	D>V		No	ClinGen 1000Genomes
CA9840523 rs778794059	250	D>Y		No	ClinGen ExAC gnomAD
CA9840524 rs746029342	253	G>S		No	ClinGen ExAC gnomAD
rs1412719030 CA408810440	254	E>*		No	ClinGen TOPMed
rs760425982 CA9840541	255	L>F		No	ClinGen ExAC gnomAD
CA9840544 rs753691544	256	Q>*		No	ClinGen ExAC gnomAD
rs1057307448 CA314216890	258	A>T		No	ClinGen gnomAD
rs1442784223 CA408810531	260	V>A		No	ClinGen gnomAD
CA408810530 rs1356249412	260	V>L		No	ClinGen TOPMed gnomAD
CA9840547 rs750451424	267	V>A		No	ClinGen ExAC gnomAD
CA314216905 rs917276647	267	V>M		No	ClinGen Ensembl
CA408810652 rs372921853	268	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs901436722 CA314216932	269	E>D		No	ClinGen TOPMed
CA9840549 rs150912491	269	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA314216933 rs1042212591	273	H>R		No	ClinGen Ensembl
CA9840550 rs145635219	276	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1198600 rs1340993736 CA408810798	276	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA408810846 rs1209962275	279	N>K		No	ClinGen gnomAD
rs1601179421 CA408810839	279	N>T		No	ClinGen Ensembl
rs1261670714 CA408810867	281	L>M		No	ClinGen gnomAD
rs1001115790 CA314216949	282	C>G		No	ClinGen TOPMed gnomAD
CA9840552 rs781465836	283	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9840553 rs147679615	283	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA314216960 rs781465836	283	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1601179478 CA408810949	286	A>P		No	ClinGen Ensembl
TCGA novel	287	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9840556 rs758937745	288	M>T		No	ClinGen ExAC TOPMed gnomAD
rs773817924 CA9840555	288	M>V		No	ClinGen ExAC gnomAD
rs1171395237 CA408811035	290	K>N		No	ClinGen TOPMed gnomAD
rs1175534295 CA408811070	292	H>L		No	ClinGen gnomAD
TCGA novel rs1403801820 CA408811081	293	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA9840559 rs138478673	295	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202224152 CA9840557	295	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs763908537 CA9840560	296	I>F		No	ClinGen ExAC TOPMed gnomAD
rs763908537 CA408811133	296	I>V		No	ClinGen ExAC TOPMed gnomAD
CA408811161 rs1428159680	297	N>S		No	ClinGen gnomAD
TCGA novel	300	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1361962955 CA408811234	301	I>T		No	ClinGen gnomAD
rs550754862 CA9840563	303	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
rs750338713 CA9840564	306	L>R		No	ClinGen ExAC
rs1267851457 CA408811352	310	P>S		No	ClinGen TOPMed gnomAD
CA408811356 rs781449292	311	A>P		No	ClinGen ExAC TOPMed gnomAD
CA408811357 rs781449292	311	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9840569 rs781449292	311	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA408811374 rs1259247471	313	F>C		No	ClinGen TOPMed
TCGA novel	313	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408811389 rs1242780721	314	F>C		No	ClinGen gnomAD
rs374099380 CA9840572	315	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs201599475 CA9840571	315	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408811419 rs1481354955	316	D>H		No	ClinGen gnomAD
rs377157882 CA9840573	317	I>T		No	ClinGen ESP ExAC gnomAD
rs1227453472 CA408811578	322	N>K		No	ClinGen gnomAD
rs1398604242 CA408811568	322	N>S		No	ClinGen TOPMed gnomAD
rs746573248 CA9840576	324	L>V		No	ClinGen ExAC gnomAD
CA314217119 rs989159070	326	S>N		No	ClinGen TOPMed
rs983831798 CA314217148	327	T>I		No	ClinGen Ensembl
CA314217153 rs148948059	329	Q>*		No	ClinGen ESP TOPMed gnomAD
CA408812877 rs1294050727	330	V>F		No	ClinGen TOPMed gnomAD
rs1294050727 CA408812875	330	V>I		No	ClinGen TOPMed gnomAD
rs769340068 CA9840601	333	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754497580 CA314224479	334	S>F		No	ClinGen Ensembl
rs1204512062 CA408812926	335	A>P		No	ClinGen gnomAD
CA9840603 rs762797321 COSM1026361	340	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9840604 rs766283882	342	A>D		No	ClinGen ExAC gnomAD
CA314224499 rs7346635	343	T>P		No	ClinGen Ensembl
TCGA novel	345	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408813146 rs1270247935	347	K>Q		No	ClinGen TOPMed
rs759501115 CA9840606	350	K>N		No	ClinGen ExAC gnomAD
CA408813264 rs1209506224	352	Q>R		No	ClinGen TOPMed
rs375933541 CA314224500	353	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs767585341 CA9840607	354	H>L		No	ClinGen ExAC TOPMed gnomAD
rs752724287 CA9840608	354	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA314224501 rs916619977	354	H>Y		No	ClinGen Ensembl
CA314224504 rs867884973	356	T>N		No	ClinGen Ensembl
CA9840611 rs754206783	360	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201636596 CA9840610	360	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs757733822 CA9840612	361	W>S		No	ClinGen ExAC gnomAD
CA9840614 rs779448339	364	A>S		No	ClinGen ExAC
CA9840615 rs750908223	364	A>V		No	ClinGen ExAC gnomAD
rs747683964 CA408813512	365	A>E		No	ClinGen ExAC gnomAD
rs141340897 CA9840617	365	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141340897 RCV000878996 CA9840616	365	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9840618 rs747683964	365	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749053542 CA9840621	366	E>*		No	ClinGen ExAC gnomAD
CA9840622 rs770674231	367	P>L		No	ClinGen ExAC TOPMed gnomAD
CA408813537 rs770674231	367	P>R		No	ClinGen ExAC TOPMed gnomAD
CA9840623 rs774155087	368	E>K		No	ClinGen ExAC gnomAD
rs1459424455 CA408813569	370	C>R		No	ClinGen TOPMed
CA408813586 rs201095536	371	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9840624 rs759400956	371	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs759400956 CA9840625	371	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9840626 rs201095536	371	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9840627 rs760715549	372	P>L		No	ClinGen ExAC TOPMed gnomAD
rs760715549 CA408813596	372	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1008089366 CA314224567	378	P>H		No	ClinGen TOPMed
CA9840630 rs761860922	379	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1227635802 CA408813680	381	I>L		No	ClinGen TOPMed
CA9840632 COSM1172716 rs202192416	382	E>K	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs758972999 CA9840633	383	M>V		No	ClinGen ExAC gnomAD
CA9840634 rs780486276	384	G>D		No	ClinGen ExAC TOPMed gnomAD
CA9840635 rs370822975	385	G>S		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with Q9Y312

2 regional properties for Q9Y312

Type	Name	Position	InterPro Accession
domain	ABC1 atypical kinase-like domain	93 - 344	IPR004147
domain	UbiB domain, bacteria	93 - 344	IPR045308

Functions

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

2 GO annotations of cellular component

Name	Definition
spliceosomal complex	Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA.
U5 snRNP	A ribonucleoprotein complex that contains small nuclear RNA U5, a heptameric ring of Sm proteins, as well as several proteins that are unique to the U5 snRNP, most of which remain associated with the U5 snRNA both while the U5 snRNP is free or assembled into a series of spliceosomal complexes.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
spliceosomal tri-snRNP complex assembly	The formation of a tri-snRNP complex containing U4 and U6 (or U4atac and U6atac) snRNAs and U5 snRNAs and associated proteins. This includes reannealing of U4 and U6 (or U4atac and U6atac) snRNAs released from previous rounds of splicing to reform the U4/U6 snRNP (or U4atac/U6atac snRNP) as well as the subsequent association of the U5 snRNP with the U4/U6 snRNP (or U4atac/U6atac snRNP) to form a tri-snRNP that is ready to reassemble into another spliceosome complex.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q08DJ7	AAR2	Protein AAR2 homolog	Bos taurus (Bovine)	PR
Q9D2V5	Aar2	Protein AAR2 homolog	Mus musculus (Mouse)	PR
Q09305	F10B5.2	Protein AAR2 homolog	Caenorhabditis elegans	PR

10	20	30	40	50	60
MAAVQMDPEL	AKRLFFEGAT	VVILNMPKGT	EFGIDYNSWE	VGPKFRGVKM	IPPGIHFLHY
70	80	90	100	110	120
SSVDKANPKE	VGPRMGFFLS	LHQRGLTVLR	WSTLREEVDL	SPAPESEVEA	MRANLQELDQ
130	140	150	160	170	180
FLGPYPYATL	KKWISLTNFI	SEATVEKLQP	ENRQICAFSD	VLPVLSMKHT	KDRVGQNLPR
190	200	210	220	230	240
CGIECKSYQE	GLARLPEMKP	RAGTEIRFSE	LPTQMFPEGA	TPAEITKHSM	DLSYALETVL
250	260	270	280	290	300
NKQFPSSPQD	VLGELQFAFV	CFLLGNVYEA	FEHWKRLLNL	LCRSEAAMMK	HHTLYINLIS
310	320	330	340	350	360
ILYHQLGEIP	ADFFVDIVSQ	DNFLTSTLQV	FFSSACSIAV	DATLRKKAEK	FQAHLTKKFR
370	380
WDFAAEPEDC	APVVVELPEG	IEMG