AiPD: Autoinhibited Protein Database

Q15459

Gene name	SF3A1 (SAP114)
Protein name	Splicing factor 3A subunit 1
Names	SF3a120, Spliceosome-associated protein 114, SAP 114
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10291
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-57 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-57 (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

25 structures for Q15459

Entry ID	Method	Resolution	Chain	Position	Source
1ZKH	NMR	-	A	704-789	PDB
2DT6	NMR	-	A	48-110	PDB
2DT7	NMR	-	B	134-217	PDB
5Z56	EM	510 A	u	1-793	PDB
5Z57	EM	650 A	w	310-384	PDB
5Z58	EM	490 A	w	310-384	PDB
6AH0	EM	570 A	u	1-793	PDB
6AHD	EM	380 A	u	1-793	PDB
6FF7	EM	450 A	p	1-793	PDB
6QX9	EM	328 A	A1	1-793	PDB
6Y53	EM	710 A	6	1-793	PDB
6Y5Q	EM	710 A	6	1-793	PDB
7ABG	EM	780 A	p	1-793	PDB
7ABI	EM	800 A	p	1-793	PDB
7EVO	EM	250 A	A	1-793	PDB
7P08	NMR	-	A	704-793	PDB
7P0V	X-ray	156 A	A	704-793	PDB
7VH9	NMR	-	A	48-110	PDB
7VPX	EM	300 A	A	1-793	PDB
8CH6	EM	590 A	H	1-793	PDB
8HK1	EM	270 A	A	1-793	PDB
8ID2	X-ray	180 A	A/B	703-793	PDB
8Q7N	EM	310 A	7	1-793	PDB
8QO9	EM	529 A	7	1-793	PDB
AF-Q15459-F1	Predicted				AlphaFoldDB

394 variants for Q15459

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA411180466 rs1299498829	3	A>P		No	ClinGen TOPMed gnomAD
rs1299498829 CA411180463	3	A>S		No	ClinGen TOPMed gnomAD
rs1221101179 CA411180435	3	A>V		No	ClinGen gnomAD
rs11550686 CA323197297	5	P>L		No	ClinGen Ensembl
CA411180403 rs1371824484	5	P>T		No	ClinGen TOPMed gnomAD
rs761555636 CA10180222	6	V>M		No	ClinGen ExAC gnomAD
rs1298639347 CA411180301	8	A>S		No	ClinGen gnomAD
rs1375663376 CA411180230	10	P>H		No	ClinGen gnomAD
rs1375663376 CA411180233	10	P>L		No	ClinGen gnomAD
rs1465378118 CA411180243	10	P>T		No	ClinGen gnomAD
rs762353088 CA10180219	11	P>A		No	ClinGen ExAC TOPMed gnomAD
CA411180182 rs1379287791	11	P>L		No	ClinGen TOPMed gnomAD
rs762353088 CA411180223	11	P>T		No	ClinGen ExAC TOPMed gnomAD
rs775477588 CA10180218	12	P>A		No	ClinGen ExAC gnomAD
rs1277272084 CA411180132	13	P>L		No	ClinGen TOPMed
rs1483138404 CA411180096	14	P>L		No	ClinGen gnomAD
CA411180084 rs1254564781	15	V>M		No	ClinGen gnomAD
CA411180056 rs1308775727	16	P>L		No	ClinGen TOPMed gnomAD
rs745750777 CA10180216	16	P>S		No	ClinGen ExAC TOPMed gnomAD
CA411180023 rs1379143165	17	T>M		No	ClinGen gnomAD
rs1238097168 CA411180035	17	T>S		No	ClinGen gnomAD
CA10180215 rs780989808	20	K>T		No	ClinGen ExAC gnomAD
CA10180186 rs767869823	22	P>L		No	ClinGen ExAC gnomAD
CA411178610 rs1262665391	22	P>S		No	ClinGen gnomAD
rs150008942 CA10180185	23	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA411178561 rs1267173642	24	E>G		No	ClinGen gnomAD
CA10180184 rs148655562	26	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1569176018 CA411178501	27	A>E		No	ClinGen Ensembl
CA411178513 rs549346944	27	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549346944 CA10180183	27	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA411178487 rs1401604111	28	S>F		No	ClinGen gnomAD
rs759026436 CA10180181	31	E>K		No	ClinGen ExAC gnomAD
TCGA novel	32	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411178407 rs1404617593	32	D>G		No	ClinGen TOPMed
CA411178414 rs776607785	32	D>N		No	ClinGen ExAC TOPMed gnomAD
CA10180180 rs776607785	32	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA411178379 rs1284188994	33	S>F		No	ClinGen TOPMed
TCGA novel	33	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	49	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1306907253 CA411178028	52	I>V		No	ClinGen TOPMed
rs1303646341 CA411176577	72	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs761685205 CA10180154	72	R>Q		No	ClinGen ExAC gnomAD
CA10180152 rs141721771	76	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA411176472 rs1444915294	77	N>S		No	ClinGen gnomAD
rs1357538890 CA411176436	79	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs749466569 CA10180151	82	N>S		No	ClinGen ExAC gnomAD
rs199771354 CA10180148	85	N>K		No	ClinGen ExAC gnomAD
CA411176324 rs1601697243	85	N>T		No	ClinGen Ensembl
CA411176304 rs1174457219	86	P>L		No	ClinGen gnomAD
CA323190724 rs929495024	87	N>D		No	ClinGen Ensembl
CA10180147 rs144046640	87	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel rs1601697225 CA411176283	88	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs757677903 CA10180146	91	H>L		No	ClinGen ExAC TOPMed gnomAD
CA411176228 rs1378484156	91	H>Y		No	ClinGen TOPMed gnomAD
CA10180144 rs778053681	94	Y>S		No	ClinGen ExAC
CA10180143 rs754648265	95	R>C		No	ClinGen ExAC gnomAD
rs1185187518 CA411176145	95	R>H		No	ClinGen gnomAD
CA411176130 rs1486504992	96	H>R		No	ClinGen gnomAD
rs1215364567 CA411176080	99	S>G		No	ClinGen gnomAD
CA10180141 rs779469580	99	S>N		No	ClinGen ExAC gnomAD
CA10180140 rs755624640	102	K>N		No	ClinGen ExAC gnomAD
rs1601697187 CA411176011 TCGA novel	103	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs1369620804 CA411175939	106	A>V		No	ClinGen Ensembl
rs1374765685 CA411175915	108	E>K		No	ClinGen gnomAD
CA10180138 rs551665351	109	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA10180135 rs763937296	111	A>T		No	ClinGen ExAC TOPMed gnomAD
CA10180133 rs775754074	112	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1345113691 CA411175757	117	M>L		No	ClinGen TOPMed
rs769815245 CA10180132	117	M>R		No	ClinGen ExAC TOPMed gnomAD
rs759649302 CA10180131	118	Q>R		No	ClinGen ExAC gnomAD
rs1601697127 CA411175624	123	T>P		No	ClinGen Ensembl
CA411175569 rs1257885572	126	Q>P		No	ClinGen gnomAD
rs771432828 CA10180126	128	L>M		No	ClinGen ExAC gnomAD
rs747465183 CA10180125	129	P>T		No	ClinGen ExAC gnomAD
TCGA novel	132	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411174856 rs1460299649	133	Q>H		No	ClinGen gnomAD
rs756798399 CA10180097	138	Q>E		No	ClinGen ExAC gnomAD
rs201572531 CA10180095	141	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10180096 rs746994373	141	I>V		No	ClinGen ExAC TOPMed gnomAD
rs752541254 CA10180093	142	V>M		No	ClinGen ExAC gnomAD
TCGA novel	147	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1335050161 CA411174660	149	E>V		No	ClinGen TOPMed
rs760729245 CA10180088	150	F>L		No	ClinGen ExAC gnomAD
rs1192700887 CA411174607	153	I>M		No	ClinGen gnomAD
CA10180086 rs372761416	153	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	156	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1278422101 CA411174528	161	A>G		No	ClinGen gnomAD
TCGA novel	167	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	168	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370505540 CA10180080 COSM184726	170	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA411174407 rs1289712822	172	Q>P		No	ClinGen TOPMed
rs758370456 CA10180077	176	R>G		No	ClinGen ExAC gnomAD
rs575533391 CA323190006	176	R>K		No	ClinGen 1000Genomes
CA411174331 rs1175070531	179	R>C		No	ClinGen gnomAD
rs747995068 CA10180076	180	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1179037979 CA411174259	186	M>L		No	ClinGen TOPMed gnomAD
CA411174244 rs1417915703	187	Q>E		No	ClinGen gnomAD
rs1253261461 CA411174239	187	Q>R		No	ClinGen gnomAD
rs778808814 CA10180075	191	R>H		No	ClinGen ExAC TOPMed gnomAD
CA411174092 rs1285488303	199	R>C		No	ClinGen gnomAD
rs756259995 CA10180071	199	R>H		No	ClinGen ExAC gnomAD
CA411174045 rs1307566823	203	S>N		No	ClinGen gnomAD
CA10180069 rs767442928	206	N>S		No	ClinGen ExAC TOPMed gnomAD
CA411173971 rs1345379757	209	T>M		No	ClinGen gnomAD
rs774691589 CA10180067	209	T>S		No	ClinGen ExAC gnomAD
CA411173958 rs867283568	210	K>N		No	ClinGen gnomAD
CA10180065 rs763217800	214	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	218	I>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411172938 rs201239547	218	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA323188964 rs1030981553	218	I>M		No	ClinGen TOPMed gnomAD
CA10180042 rs201239547	218	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771670722 CA10180041	219	L>V		No	ClinGen ExAC gnomAD
CA10180038 rs372093557	220	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA10180039 rs372093557	220	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1328454775 CA411172864	223	K>E		No	ClinGen gnomAD
CA411172849 rs1234027070	224	G>C		No	ClinGen TOPMed
rs769548854 CA10180035	229	L>P		No	ClinGen ExAC TOPMed gnomAD
rs781261490 CA10180033	230	K>N		No	ClinGen ExAC gnomAD
CA10180034 rs746140763	230	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs757427991 CA10180032	233	A>S		No	ClinGen ExAC TOPMed gnomAD
rs757427991 CA411172720	233	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1272429428 CA411172694	235	N>T		No	ClinGen TOPMed
CA10180030 rs777851529	237	R>Q		No	ClinGen ExAC gnomAD
rs1022119401 CA323188933	239	V>I		No	ClinGen gnomAD
TCGA novel	241	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs548005940 CA10180010	246	R>*		No	ClinGen 1000Genomes ExAC gnomAD
rs900808785 CA323188689	246	R>Q		No	ClinGen TOPMed
CA411172458 rs1160166604	250	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA15993838 rs1391087731	255	R>C		No	ClinGen TOPMed
rs754162695 CA10180007	255	R>H		No	ClinGen ExAC TOPMed gnomAD
rs754162695 CA411172396	255	R>L		No	ClinGen ExAC TOPMed gnomAD
rs532792645 CA10180006	256	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA10180003 rs763646092	264	K>R		No	ClinGen ExAC TOPMed gnomAD
CA323188654 COSM579989 rs372226997	271	Y>C	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA
CA411172267 rs1225863671	273	Q>R		No	ClinGen gnomAD
TCGA novel	276	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA323188648 rs76494142	283	E>G		No	ClinGen Ensembl
TCGA novel	283	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1250802093 CA411172156	288	Q>H		No	ClinGen TOPMed
rs750239804 CA323188631	289	P>A		No	ClinGen Ensembl
CA10179997 rs770722220	290	N>S		No	ClinGen ExAC TOPMed gnomAD
CA411172147 rs770722220	290	N>T		No	ClinGen ExAC TOPMed gnomAD
rs550212420 CA411172129	292	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1192230813 CA411172089	297	P>T		No	ClinGen gnomAD
rs903453209 CA411172082	298	P>A		No	ClinGen TOPMed gnomAD
CA411172080 rs1210292171	298	P>R		No	ClinGen TOPMed
rs903453209 CA323188452	298	P>S		No	ClinGen TOPMed gnomAD
rs141898171 CA323188428	299	T>P		No	ClinGen Ensembl
rs1204236881 CA411172068	300	T>K		No	ClinGen gnomAD
CA411172058 rs1405589831	302	E>A		No	ClinGen TOPMed
rs1601694117 CA411172034	306	A>T		No	ClinGen Ensembl
rs1370260889 CA411172027	307	R>*		No	ClinGen gnomAD
rs1158955579 CA411172025	307	R>Q		No	ClinGen TOPMed
rs746239085 CA10179967	311	Q>E		No	ClinGen ExAC gnomAD
CA411171970 rs1368201417	315	E>G		No	ClinGen gnomAD
TCGA novel	320	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA411171915 rs1362387401	322	E>A		No	ClinGen TOPMed
CA411171869 rs1439255699	328	E>D		No	ClinGen TOPMed gnomAD
rs1275551292 CA411171833	333	D>G		No	ClinGen gnomAD
rs778436048 CA10179962	334	D>N		No	ClinGen ExAC gnomAD
rs754490998 CA10179961	335	K>Q		No	ClinGen ExAC
CA10179960 rs118018567	335	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10179959 rs766342805	336	Q>H		No	ClinGen ExAC gnomAD
rs147101204 CA10179958	339	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10179956 rs767376450	341	E>K		No	ClinGen ExAC TOPMed gnomAD
CA411171771 rs1206056550	342	P>L		No	ClinGen gnomAD
CA10179955 rs762163533	342	P>S		No	ClinGen ExAC gnomAD
rs774689787 CA411171764	343	P>L		No	ClinGen ExAC gnomAD
rs774689787 CA10179954	343	P>R		No	ClinGen ExAC gnomAD
CA411171761 rs1444190120	344	S>A		No	ClinGen TOPMed
CA323188361 rs916694381	347	D>V		No	ClinGen TOPMed
rs1332737177 CA411171742	347	D>Y		No	ClinGen gnomAD
rs754537922 CA10179952	351	Q>L		No	ClinGen ExAC gnomAD
rs775368432 CA10179951	352	V>I		No	ClinGen ExAC gnomAD
CA323187815 rs959543442	361	D>G		No	ClinGen TOPMed
TCGA novel	364	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10179937 rs767466337	365	G>E		No	ClinGen ExAC
CA10179938 rs750350629	365	G>R		No	ClinGen ExAC TOPMed gnomAD
CA10179934 rs764385359	369	P>L		No	ClinGen ExAC gnomAD
CA10179935 rs751900155	369	P>S		No	ClinGen ExAC TOPMed gnomAD
CA411171252 rs1448256993	370	P>S		No	ClinGen TOPMed
CA10179932 rs139386927	371	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	372	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765191481 CA10179931	373	E>D		No	ClinGen ExAC TOPMed gnomAD
rs760077254 CA10179930	374	T>P		No	ClinGen ExAC TOPMed gnomAD
CA411171225 rs1601693322	375	P>T		No	ClinGen Ensembl
CA323187773 rs1006554258 CA411171209	376	M>I		No	ClinGen TOPMed gnomAD
rs771344919 CA10179928	383	T>A		No	ClinGen ExAC gnomAD
CA323187762 rs1026164089	384	P>S		No	ClinGen TOPMed
rs1195070418 CA411171110	386	Q>H		No	ClinGen Ensembl
rs112561099 CA323187759	387	V>I		No	ClinGen Ensembl
TCGA novel	388	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773390311 CA10179926	389	V>F		No	ClinGen ExAC gnomAD
CA411171074 rs1239952806	390	R>C		No	ClinGen TOPMed
CA10179925 rs768376788	390	R>H		No	ClinGen ExAC gnomAD
rs1569171420 CA411171046	392	D>G		No	ClinGen Ensembl
TCGA novel	395	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10179896 rs746885212	397	A>V		No	ClinGen ExAC gnomAD
CA411170904 rs1452558886	400	P>T		No	ClinGen gnomAD
rs777663467 CA10179895	401	L>F		No	ClinGen ExAC gnomAD
CA10179894 rs758106501	403	P>S		No	ClinGen ExAC gnomAD
CA10179893 rs200618474	404	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs2240423 CA323187444	408	D>E		No	ClinGen Ensembl
rs1342432016 CA411170819	408	D>G		No	ClinGen gnomAD
CA411170799 rs1352965421	410	Y>H		No	ClinGen TOPMed gnomAD
CA411170763 rs1601692990	413	S>P		No	ClinGen Ensembl
CA10179890 rs753935531	420	I>T		No	ClinGen ExAC gnomAD
CA411170685 rs1346378092	420	I>V		No	ClinGen TOPMed gnomAD
rs571212893 CA10179888	423	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs750869018 CA10179887	424	K>R		No	ClinGen ExAC gnomAD
rs1371374562 CA411170621	425	M>I		No	ClinGen gnomAD
CA10179886 rs767980185	425	M>V		No	ClinGen ExAC gnomAD
CA10179885 rs762077184	426	Q>R		No	ClinGen ExAC gnomAD
rs774707414 CA10179884	429	M>V		No	ClinGen ExAC gnomAD
CA411170561 rs1438622060	430	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs867171814 CA323187417	432	G>*		No	ClinGen Ensembl
CA10179882 rs759219218	437	R>C		No	ClinGen ExAC gnomAD
rs776315877 CA10179881	437	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA411170408 rs1601692916	443	D>G		No	ClinGen Ensembl
rs747017478 CA10179879	443	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1483199351 CA411170389	444	R>L		No	ClinGen gnomAD
rs777558801 CA10179878 COSM1714265	445	S>F	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA411170356 rs1208126048	447	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10179875 rs778628307	452	D>G		No	ClinGen ExAC gnomAD
rs747902630 CA10179876	452	D>N		No	ClinGen ExAC gnomAD
CA323187384 rs745796426	453	D>N		No	ClinGen Ensembl
CA411170301 rs1601692877	454	E>D		No	ClinGen Ensembl
rs1601692872 TCGA novel CA411170295	455	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA10179872 rs780152833	458	P>A		No	ClinGen ExAC gnomAD
CA411170265 rs1292851438	458	P>L		No	ClinGen gnomAD
TCGA novel	470	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	472	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1414031201 CA411169636	480	E>G		No	ClinGen gnomAD
rs1185461219 CA411169610	482	T>P		No	ClinGen gnomAD
TCGA novel	483	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10179849 rs752082275	488	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1026314939 CA323186883	495	K>R		No	ClinGen Ensembl
rs1489634686 CA411169296	501	T>A		No	ClinGen gnomAD
rs112729488 CA323186818	502	W>G		No	ClinGen Ensembl
rs112729488 CA323186816	502	W>R		No	ClinGen Ensembl
rs765594577 VAR_036290 COSM32683 CA10179827	511	R>W	large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD
rs755759840 CA10179826	513	Q>*		No	ClinGen ExAC gnomAD
rs1601692100 CA411169018	521	T>P		No	ClinGen Ensembl
CA10179822 rs773783749	528	A>T		No	ClinGen ExAC gnomAD
CA10179821 rs764030591	539	D>V		No	ClinGen ExAC gnomAD
CA411168596 rs1371984429	550	P>S		No	ClinGen gnomAD
rs762826119 CA10179820	551	N>D		No	ClinGen ExAC TOPMed gnomAD
CA10179819 rs145469758	551	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs561885143 CA10179816	558	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777945769 CA10179813	562	S>L		No	ClinGen ExAC gnomAD
CA411168442 rs1569170660	562	S>P		No	ClinGen Ensembl
rs772730777 CA10179812	564	T>A		No	ClinGen ExAC gnomAD
rs1205995966 CA411168409	564	T>I		No	ClinGen gnomAD
CA10179810 rs779191370	565	N>H		No	ClinGen ExAC gnomAD
rs1171385849 CA411168368	567	P>L		No	ClinGen gnomAD
CA10179809 COSM1033256 rs755352325	569	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs780901671 CA10179807	570	A>T		No	ClinGen ExAC gnomAD
CA323186761 rs934521041	573	I>F		No	ClinGen TOPMed gnomAD
CA411168302 rs934521041	573	I>V		No	ClinGen TOPMed gnomAD
CA411168245 rs1399512456	577	P>L		No	ClinGen gnomAD
rs763556772 CA10179804	578	R>*		No	ClinGen ExAC gnomAD
rs200311097 CA10179803	578	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1158921168 CA411168221	580	P>S		No	ClinGen gnomAD
rs759375192 CA10179800	581	T>A		No	ClinGen ExAC TOPMed gnomAD
CA10179777 rs569090702	582	M>R		No	ClinGen 1000Genomes ExAC
rs376714043 CA10179778	582	M>V		No	ClinGen ESP ExAC
CA411168188 rs1244889497	583	P>L		No	ClinGen gnomAD
TCGA novel	583	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370312981 CA10179775	584	P>L		No	ClinGen ESP ExAC gnomAD
rs1367931653 CA411168174	585	P>A		No	ClinGen gnomAD
rs1367931653 CA411168173	585	P>S		No	ClinGen gnomAD
CA323186162 rs267606220	587	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10179773 rs775874396	587	R>H		No	ClinGen ExAC gnomAD
rs1458597118 CA411168079	593	A>S		No	ClinGen gnomAD
rs1458597118 CA411168082	593	A>T		No	ClinGen gnomAD
CA10179770 rs777399607	595	P>T		No	ClinGen ExAC TOPMed gnomAD
CA411168036 rs1451310986	597	M>V		No	ClinGen TOPMed gnomAD
rs1490565448 CA411168007 COSM3842457	599	R>Q	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1197943084 CA411167997	600	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs200567491 CA10179768	602	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs969887023 CA411167931	605	V>A		No	ClinGen TOPMed gnomAD
rs969887023 CA323186154	605	V>G		No	ClinGen TOPMed gnomAD
rs986261815 CA323186152	607	R>P		No	ClinGen TOPMed
rs986261815 CA411167915	607	R>Q		No	ClinGen TOPMed
rs1161090555 CA411167895	609	P>L		No	ClinGen TOPMed
rs778240237 CA10179767	609	P>S		No	ClinGen ExAC TOPMed gnomAD
rs753693076 CA10179765	613	V>L		No	ClinGen ExAC gnomAD
CA10179762 rs750172653	615	A>T		No	ClinGen ExAC TOPMed gnomAD
rs761891512 CA10179760	616	P>A		No	ClinGen ExAC gnomAD
CA411167793 rs1370165248	618	P>L		No	ClinGen gnomAD
CA411167779 rs1431665019	619	P>L		No	ClinGen gnomAD
rs144118422 CA10179757	623	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1476992303 CA411167722	623	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA411167707 rs1199266651	625	R>G		No	ClinGen gnomAD
CA411167669 rs1360514073	627	N>T		No	ClinGen TOPMed
rs564472134 CA10179755	628	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10179754 rs746236845	629	V>M		No	ClinGen ExAC gnomAD
rs1206717565 CA411167579	634	S>L		No	ClinGen gnomAD
rs1274335066 CA411167574	635	A>S		No	ClinGen gnomAD
COSM1415705 rs377475726 CA10179753	635	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs747716903 CA10179751	637	P>S		No	ClinGen ExAC gnomAD
rs1350136162 CA411167532	639	M>I		No	ClinGen gnomAD
rs1286612632 CA411167529	640	A>T		No	ClinGen gnomAD
CA411167519 rs1411756380	641	P>L		No	ClinGen gnomAD
TCGA novel	642	R>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778528893 CA10179750	642	R>C		No	ClinGen ExAC gnomAD
CA411167515 rs754430112	642	R>H		No	ClinGen ExAC TOPMed
rs754430112 CA411167514	642	R>L		No	ClinGen ExAC TOPMed
CA10179748 rs754430112	642	R>P		No	ClinGen ExAC TOPMed
rs749302375 CA10179747	643	P>T		No	ClinGen ExAC gnomAD
rs1412726744 CA411167506	644	P>S		No	ClinGen TOPMed gnomAD
rs1412726744 CA411167508	644	P>T		No	ClinGen TOPMed gnomAD
CA411167501 rs756053401	645	P>S		No	ClinGen ExAC gnomAD
CA10179740 rs756053401	645	P>T		No	ClinGen ExAC gnomAD
TCGA novel	646	M>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750264584 CA10179739	646	M>I		No	ClinGen ExAC
CA411167494 rs1569170092	646	M>L		No	ClinGen Ensembl
CA411167475 rs1404237035	647	I>V		No	ClinGen gnomAD
rs535345738 CA10179724	654	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs535345738 CA411166435	654	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745766839 CA10179723	655	A>P		No	ClinGen ExAC TOPMed gnomAD
rs745766839 CA10179722	655	A>S		No	ClinGen ExAC TOPMed gnomAD
CA323185732 rs369609860	656	P>T		No	ClinGen Ensembl
CA323185722 rs1040503082	657	P>A		No	ClinGen TOPMed gnomAD
CA411166314 rs1227630009	662	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1362922140 CA411166242	665	A>G		No	ClinGen gnomAD
rs1439565267 CA411166202	667	M>I		No	ClinGen TOPMed
rs369021965 CA10179720	667	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10179718 rs777863109	668	P>L		No	ClinGen ExAC gnomAD
CA10179719 rs751877394	668	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1413974596 CA411166146	670	V>L		No	ClinGen gnomAD
rs1449443089 CA411166122	671	H>R		No	ClinGen TOPMed gnomAD
CA411166127 rs1230570829	671	H>Y		No	ClinGen TOPMed
CA411166106 rs1388802781	672	P>H		No	ClinGen gnomAD
CA411166108 rs1323414665	672	P>S		No	ClinGen TOPMed
rs142230972 CA10179715	673	P>S		No	ClinGen ESP ExAC gnomAD
rs372715582 CA10179714	674	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1219712827 CA411166060	674	P>L		No	ClinGen gnomAD
CA10179713 rs368816206	675	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1162688299 CA411166047	675	P>S		No	ClinGen gnomAD
CA411166024 rs766831121	676	M>L		No	ClinGen ExAC gnomAD
rs760950388 CA10179711	676	M>R		No	ClinGen ExAC gnomAD
CA10179712 rs766831121	676	M>V		No	ClinGen ExAC gnomAD
CA10179708 rs762653777	681	T>A		No	ClinGen ExAC gnomAD
rs1272853317 CA411165904	681	T>I		No	ClinGen TOPMed gnomAD
rs1472812714 CA411165889	682	S>F		No	ClinGen TOPMed
CA323185679 rs373384137	682	S>P		No	ClinGen Ensembl
CA411165739 rs1569169799	690	S>I		No	ClinGen Ensembl
rs1184038547 CA411165716	692	M>L		No	ClinGen TOPMed
CA411165685 rs1170964642	693	P>S		No	ClinGen gnomAD
rs1555977527 CA411165653	694	E>G		No	ClinGen Ensembl
CA411165600 rs1429613302	698	L>V		No	ClinGen gnomAD
COSM1033254 CA10179704 rs780989007	699	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10179703 rs570884843	699	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10179683 rs746929114	704	P>S		No	ClinGen ExAC gnomAD
rs1323916003 CA411165404	705	V>M		No	ClinGen gnomAD
CA10179682 rs373925223	708	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1226261189 CA411165331	710	Q>H		No	ClinGen gnomAD
TCGA novel	710	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771835260 CA10179681	712	P>L		No	ClinGen ExAC gnomAD
rs779108648 CA10179679	716	D>G		No	ClinGen ExAC gnomAD
rs755133649 CA10179678	718	T>M		No	ClinGen ExAC TOPMed gnomAD
rs749345332 CA10179677	723	N>K		No	ClinGen ExAC gnomAD
CA323184644 rs11550685	725	Q>*		No	ClinGen Ensembl
rs769536484 CA323184635	725	Q>H		No	ClinGen Ensembl
CA323184612 rs780139041	727	L>V		No	ClinGen ExAC gnomAD
rs1158852732 CA411165125	731	L>P		No	ClinGen gnomAD
CA10179675 rs756617459	734	T>A		No	ClinGen ExAC gnomAD
rs750917655 CA10179674	734	T>M		No	ClinGen ExAC TOPMed gnomAD
CA411164842 rs1186453951	740	I>F		No	ClinGen gnomAD
TCGA novel	741	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA323184426 rs1014101548	742	V>M		No	ClinGen TOPMed
rs1262156966 CA411164781	744	I>T		No	ClinGen gnomAD
rs1004391650 CA323184421	745	H>L		No	ClinGen Ensembl
CA411164744 rs1161526123	747	A>T		No	ClinGen gnomAD
rs1569169267 CA411164731	748	T>A		No	ClinGen Ensembl
rs780044697 CA10179659	750	M>V		No	ClinGen ExAC gnomAD
rs756205820 CA10179658	752	A>V		No	ClinGen ExAC gnomAD
rs775755543 CA323184419	759	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA411164555 rs1569169243	760	E>D		No	ClinGen Ensembl
CA10179643 rs763140760	767	S>C		No	ClinGen ExAC TOPMed gnomAD
CA10179642 rs775776650	770	L>M		No	ClinGen ExAC gnomAD
CA10179640 rs745974341	771	A>S		No	ClinGen ExAC gnomAD
rs967054661 CA323184064	772	Y>C		No	ClinGen TOPMed gnomAD
CA411164363 rs1405770257	772	Y>H		No	ClinGen gnomAD
rs1438191181 CA411164348	774	N>D		No	ClinGen TOPMed
rs201878827 CA323184061	775	M>V		No	ClinGen 1000Genomes
CA10179638 rs771597946	777	N>S		No	ClinGen ExAC TOPMed gnomAD
CA10179637 rs747490808	778	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA411164314 rs1453473567	779	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10179633 rs779766258	790	G>R		No	ClinGen ExAC gnomAD
rs1601688710 CA411164238	791	R>G		No	ClinGen Ensembl
rs1601688699 CA411164230	792	K>E		No	ClinGen Ensembl
rs1601688698 CA411164213	794	K>E		No	ClinGen Ensembl

No associated diseases with Q15459

5 regional properties for Q15459

Type	Name	Position	InterPro Accession
domain	SWAP/Surp	50 - 103	IPR000061-1
domain	SWAP/Surp	164 - 217	IPR000061-2
domain	Ubiquitin-like domain	707 - 790	IPR000626
domain	Splicing factor 3A subunit 1, conserved domain	233 - 472	IPR022030
domain	Splicing factor 3A subunit 1, ubiquitin domain	704 - 786	IPR035563

Functions

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

9 GO annotations of cellular component

Name	Definition
catalytic step 2 spliceosome	A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs.
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.
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.
U2 snRNP	A ribonucleoprotein complex that contains small nuclear RNA U2, a heptameric ring of Sm proteins, as well as several proteins that are unique to the U2 snRNP, most of which remain associated with the U2 snRNA both while the U2 snRNP is free or assembled into a series of spliceosomal complexes.
U2-type precatalytic spliceosome	A spliceosomal complex that is formed by the recruitment of the preassembled U4/U6.U5 tri-snRNP to the prespliceosome. Although all 5 snRNPs are present, the precatalytic spliceosome is catalytically inactive. The precatalytic spliceosome includes many proteins in addition to those found in the U1, U2 and U4/U6.U5 snRNPs.
U2-type prespliceosome	A spliceosomal complex that is formed by association of the 5' splice site with the U1 snRNP, while the branch point sequence is recognized by the U2 snRNP. The prespliceosome includes many proteins in addition to those found in the U1 and U2 snRNPs. Commitment to a given pair of 5' and 3' splice sites occurs at the time of prespliceosome formation.
U2-type spliceosomal complex	Any spliceosomal complex that forms during the splicing of a messenger RNA primary transcript to excise an intron that has canonical consensus sequences near the 5' and 3' ends.

1 GO annotations of molecular function

Name	Definition
RNA binding	Binding to an RNA molecule or a portion thereof.

5 GO annotations of biological process

Name	Definition
mRNA 3'-splice site recognition	Recognition of the intron 3'-splice site by components of the assembling U2- or U12-type spliceosome.
mRNA cis splicing, via spliceosome	The joining together, after removal of an intervening sequence composed of one or more introns, of two segments of the same RNA molecule via spliceosomal catalysis to produce an mRNA composed only of exon sequences that all came from the same primary transcript.
mRNA processing	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide.
mRNA splicing, via spliceosome	The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced.
U2-type prespliceosome assembly	The aggregation, arrangement and bonding together of a set of components to form an U2-type prespliceosome.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A2VDN6	SF3A1	Splicing factor 3A subunit 1	Bos taurus (Bovine)	PR
Q8K4Z5	Sf3a1	Splicing factor 3A subunit 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MPAGPVQAVP	PPPPVPTEPK	QPTEEEASSK	EDSAPSKPVV	GIIYPPPEVR	NIVDKTASFV
70	80	90	100	110	120
ARNGPEFEAR	IRQNEINNPK	FNFLNPNDPY	HAYYRHKVSE	FKEGKAQEPS	AAIPKVMQQQ
130	140	150	160	170	180
QQTTQQQLPQ	KVQAQVIQET	IVPKEPPPEF	EFIADPPSIS	AFDLDVVKLT	AQFVARNGRQ
190	200	210	220	230	240
FLTQLMQKEQ	RNYQFDFLRP	QHSLFNYFTK	LVEQYTKILI	PPKGLFSKLK	KEAENPREVL
250	260	270	280	290	300
DQVCYRVEWA	KFQERERKKE	EEEKEKERVA	YAQIDWHDFV	VVETVDFQPN	EQGNFPPPTT
310	320	330	340	350	360
PEELGARILI	QERYEKFGES	EEVEMEVESD	EEDDKQEKAE	EPPSQLDQDT	QVQDMDEGSD
370	380	390	400	410	420
DEEEGQKVPP	PPETPMPPPL	PPTPDQVIVR	KDYDPKASKP	LPPAPAPDEY	LVSPITGEKI
430	440	450	460	470	480
PASKMQEHMR	IGLLDPRWLE	QRDRSIREKQ	SDDEVYAPGL	DIESSLKQLA	ERRTDIFGVE
490	500	510	520	530	540
ETAIGKKIGE	EEIQKPEEKV	TWDGHSGSMA	RTQQAAQANI	TLQEQIEAIH	KAKGLVPEDD
550	560	570	580	590	600
TKEKIGPSKP	NEIPQQPPPP	SSATNIPSSA	PPITSVPRPP	TMPPPVRTTV	VSAVPVMPRP
610	620	630	640	650	660
PMASVVRLPP	GSVIAPMPPI	IHAPRINVVP	MPPSAPPIMA	PRPPPMIVPT	AFVPAPPVAP
670	680	690	700	710	720
VPAPAPMPPV	HPPPPMEDEP	TSKKLKTEDS	LMPEEEFLRR	NKGPVSIKVQ	VPNMQDKTEW
730	740	750	760	770	780
KLNGQVLVFT	LPLTDQVSVI	KVKIHEATGM	PAGKQKLQYE	GIFIKDSNSL	AYYNMANGAV
790
IHLALKERGG	RKK