AiPD: Autoinhibited Protein Database

O60508

Gene name	CDC40 (EHB3, PRP17, PRPF17)
Protein name	Pre-mRNA-processing factor 17
Names	Cell division cycle 40 homolog, EH-binding protein 3, Ehb3, PRP17 homolog, hPRP17
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51362
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-268 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-268 (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

21 structures for O60508

Entry ID	Method	Resolution	Chain	Position	Source
5MQF	EM	590 A	E	1-579	PDB
5XJC	EM	360 A	W	1-579	PDB
5YZG	EM	410 A	W	1-579	PDB
5Z56	EM	510 A	W	1-579	PDB
5Z57	EM	650 A	W	1-579	PDB
6FF4	EM	1600 A	E	1-579	PDB
6FF7	EM	450 A	E	1-579	PDB
6ICZ	EM	300 A	W	1-579	PDB
6ID0	EM	290 A	W	1-579	PDB
6ID1	EM	286 A	W	1-579	PDB
6QDV	EM	330 A	o	67-579	PDB
6ZYM	EM	340 A	E	1-579	PDB
7A5P	EM	500 A	E	1-579	PDB
7AAV	EM	420 A	8	1-579	PDB
7ABI	EM	800 A	8	1-579	PDB
7W59	EM	360 A	W	1-579	PDB
7W5A	EM	360 A	W	1-579	PDB
7W5B	EM	430 A	W	1-579	PDB
8C6J	EM	280 A	o	1-579	PDB
8CH6	EM	590 A	x	1-579	PDB
AF-O60508-F1	Predicted				AlphaFoldDB

319 variants for O60508

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_085515 CA3957492 rs779945821 COSM201099	502	F>C	Variant assessed as Somatic; 0.0 impact. large_intestine PCH15; in knockdown cells, unable to rescue higher intron retention levels and to restore normal cell viability, contrary to wild-type; reduced protein levels in homozygous patient's fibroblasts compared to heterozygous or wild-type cells [NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA3957107 rs760807962	3	A>V		No	ClinGen ExAC gnomAD
rs1340963967 CA365236577	5	I>V		No	ClinGen gnomAD
CA365236599 rs141278544	7	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141278544 CA3957109	7	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1381535679 CA365236622	9	A>V		No	ClinGen gnomAD
CA3957111 rs765638021	10	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA365236649 rs1440465695	12	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3957114 rs780513646	13	G>D		No	ClinGen ExAC TOPMed gnomAD
rs751107577 CA3957115	14	S>L		No	ClinGen ExAC
rs1044590716 CA145180146	15	G>A		No	ClinGen Ensembl
rs1193167852 CA365236687	16	S>L		No	ClinGen TOPMed
CA365236692 rs1214817783	17	G>A		No	ClinGen gnomAD
CA365236700 rs1584055107	18	S>A		No	ClinGen Ensembl
CA365236727 rs1584055113	20	S>L		No	ClinGen Ensembl
CA3957118 rs747844527	21	D>A		No	ClinGen ExAC gnomAD
TCGA novel	24	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365236831 rs1462621754	30	P>L		No	ClinGen gnomAD
CA365236836 rs1200970755	31	L>Q		No	ClinGen TOPMed
CA365236841 rs1440956656	32	P>T		No	ClinGen gnomAD
rs1562196792 CA365236849	33	A>S		No	ClinGen Ensembl
CA365236887 rs1379550876	37	L>F		No	ClinGen gnomAD
CA3957122 rs771033625	38	M>T		No	ClinGen ExAC TOPMed gnomAD
CA145180185 rs768654725	41	T>I		No	ClinGen TOPMed
TCGA novel	41	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1055482213 CA145180190	43	S>L		No	ClinGen TOPMed gnomAD
rs867279247 CA145180197	45	S>A		No	ClinGen Ensembl
rs1233108135 CA365237004	48	P>L		No	ClinGen TOPMed
CA3957123 rs774428110	49	S>C		No	ClinGen ExAC gnomAD
TCGA novel	50	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3957124 rs760895838	50	L>V		No	ClinGen ExAC gnomAD
rs1435656072 CA365237032	52	V>A		No	ClinGen TOPMed
CA365237033 rs1435656072	52	V>E		No	ClinGen TOPMed
rs768795829 CA3957125	53	A>T		No	ClinGen ExAC TOPMed gnomAD
rs190262523 CA3957126	53	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1019483286 CA145180262	54	V>A		No	ClinGen TOPMed
CA365237051 rs1197602868	55	D>G		No	ClinGen TOPMed
rs762125240 CA3957127	55	D>N		No	ClinGen ExAC gnomAD
rs1584055299 CA365237067	57	A>P		No	ClinGen Ensembl
CA3957129 rs750833185	57	A>V		No	ClinGen ExAC gnomAD
CA3957131 rs182512937	58	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3957130 rs763271331	58	P>T		No	ClinGen ExAC TOPMed gnomAD
rs995928546 CA145180298	59	E>K		No	ClinGen TOPMed gnomAD
rs995928546 CA145180297	59	E>Q		No	ClinGen TOPMed gnomAD
CA365237110 rs1584055325	60	V>G		No	ClinGen Ensembl
rs1191876020 CA365237114	61	A>T		No	ClinGen TOPMed
CA365237123 rs1027461761	62	V>I		No	ClinGen TOPMed gnomAD
CA145180299 rs1027461761	62	V>L		No	ClinGen TOPMed gnomAD
rs1253832034 CA365237134	63	K>E		No	ClinGen gnomAD
TCGA novel	66	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365234331 rs1378027209	67	E>D		No	ClinGen TOPMed
rs202176812 CA3957155	71	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365234397 rs1263552187	71	H>Q		No	ClinGen gnomAD
rs1171521748 CA365234424	73	D>V		No	ClinGen gnomAD
rs1399686240 CA365234439	74	P>S		No	ClinGen gnomAD
CA3957157 rs756904371	76	V>I		No	ClinGen ExAC TOPMed gnomAD
rs935478990 CA145165041	77	K>E		No	ClinGen TOPMed
CA365234526 rs1206745879	79	V>A		No	ClinGen gnomAD
CA365234540 rs1436296568	80	Q>R		No	ClinGen TOPMed gnomAD
rs1301665736 CA365234558	81	Y>D		No	ClinGen gnomAD
CA3957159 rs556916492	83	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA145165079 rs936387655	83	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3957160 rs556916492	83	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA365234603 rs1237365248	84	T>I		No	ClinGen TOPMed
rs779821764 CA3957161	85	Y>C		No	ClinGen ExAC gnomAD
rs1229481722 CA365234623	86	E>K		No	ClinGen gnomAD
rs769745679 CA3957163	87	T>A		No	ClinGen ExAC gnomAD
CA365234646 rs1450949101	87	T>S		No	ClinGen gnomAD
CA3957164 rs773215022	88	M>V		No	ClinGen ExAC gnomAD
rs749546724 CA3957165	89	F>L		No	ClinGen ExAC gnomAD
CA145170645 rs1006978693	93	F>L		No	ClinGen TOPMed
CA365235191 rs1389522964	94	G>E		No	ClinGen TOPMed
rs149591848 CA365235225	97	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA145170651 rs1017921160	97	N>T		No	ClinGen TOPMed
rs149591848 CA3957183	97	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs992837995 CA145170652	100	R>K		No	ClinGen Ensembl
rs1415787702 CA365235276	101	T>A		No	ClinGen gnomAD
rs778044418 CA145170654	103	Q>K		No	ClinGen gnomAD
CA145170658 rs965098626	104	M>I		No	ClinGen TOPMed gnomAD
rs750271195 CA3957184	104	M>V		No	ClinGen ExAC
TCGA novel	107	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs997927971 CA145170681	110	M>I		No	ClinGen TOPMed
CA145170668 rs749821792	110	M>L		No	ClinGen ExAC gnomAD
rs1386371707 CA365235396	110	M>T		No	ClinGen TOPMed gnomAD
CA3957185 rs749821792	110	M>V		No	ClinGen ExAC gnomAD
CA3957186 rs780094397	111	L>V		No	ClinGen ExAC gnomAD
rs1562202420 CA365235426	113	G>R		No	ClinGen Ensembl
rs1348861502 CA365235447	114	Y>F		No	ClinGen gnomAD
CA145170693 rs865853615	115	A>V		No	ClinGen Ensembl
COSM1072105 rs375400280 CA3957190	116	E>K	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs375400280 CA145170730	116	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3957191 rs771185478	117	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	118	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365235497 rs1240648567	118	A>S		No	ClinGen gnomAD
CA365235505 rs1440820702	118	A>V		No	ClinGen gnomAD
rs868457806 CA145170747	120	I>M		No	ClinGen TOPMed gnomAD
CA3957192 rs548036861	121	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA365235568 rs1280963447	122	D>G		No	ClinGen TOPMed
rs1172812863 CA365235578	123	F>L		No	ClinGen gnomAD
CA365235591 rs746303717	124	M>L		No	ClinGen ExAC TOPMed gnomAD
CA3957193 rs746303717	124	M>V		No	ClinGen ExAC TOPMed gnomAD
CA365235626 rs1467833544	126	E>K		No	ClinGen gnomAD
rs771298480 CA145170774	129	R>K		No	ClinGen Ensembl
CA3957195 rs775858350	135	Y>C		No	ClinGen ExAC gnomAD
CA145175562 rs948462247	138	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA365236325 rs1455634559	144	D>G		No	ClinGen TOPMed
rs757019871 CA145175571	146	H>Y		No	ClinGen Ensembl
CA145175585 rs145261182	148	V>M		No	ClinGen ESP TOPMed
CA365236395 rs905336143	154	G>D		No	ClinGen TOPMed gnomAD
rs905336143 CA145175591	154	G>V		No	ClinGen TOPMed gnomAD
CA365236412 rs1444844634	157	E>G		No	ClinGen TOPMed
CA365236409 rs1471800892	157	E>K		No	ClinGen gnomAD
CA3957216 rs372486381	158	E>A		No	ClinGen ESP ExAC gnomAD
CA3957218 rs769438606	160	E>K		No	ClinGen ExAC TOPMed gnomAD
CA365236457 rs1255828119	163	Q>R		No	ClinGen Ensembl
rs780290253 CA3957237	165	L>S		No	ClinGen ExAC gnomAD
CA3957238 rs372322446	167	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3957240 rs781639349	168	F>S		No	ClinGen ExAC gnomAD
CA365237343 rs781639349	168	F>Y		No	ClinGen ExAC gnomAD
rs932841821 CA365237358	169	E>G		No	ClinGen TOPMed
CA365237354 rs1182921532	169	E>K		No	ClinGen TOPMed gnomAD
CA145176897 rs932841821	169	E>V		No	ClinGen TOPMed
rs1270729502 CA365237400	172	Q>H		No	ClinGen TOPMed
rs1223380687 CA365237457	176	E>A		No	ClinGen TOPMed gnomAD
rs1383227729 CA365237531	181	F>L		No	ClinGen gnomAD
TCGA novel	181	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748667971 CA3957241	187	S>Y		No	ClinGen ExAC gnomAD
rs990920315 CA145176913	188	N>S		No	ClinGen TOPMed gnomAD
rs77770425 CA145176922	189	I>T		No	ClinGen Ensembl
rs374878520 CA3957242	190	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	193	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772650353 CA3957243	197	A>E		No	ClinGen ExAC gnomAD
CA365237781 rs1396620433	199	Y>F		No	ClinGen gnomAD
CA365237792 rs1314972534	200	V>A		No	ClinGen gnomAD
CA365237815 rs1242847482	202	E>K		No	ClinGen gnomAD
rs1326388752 CA365237885	207	K>R		No	ClinGen TOPMed
TCGA novel	212	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365238096 rs1330147437	214	K>T		No	ClinGen gnomAD
rs775314336 CA365238119	216	L>V		No	ClinGen ExAC gnomAD
rs760430736 CA3957272	220	T>I		No	ClinGen ExAC TOPMed gnomAD
rs760430736 CA365238180	220	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1222557355 CA365238192	221	A>E		No	ClinGen gnomAD
rs1434542543 CA365238228	224	Q>K		No	ClinGen TOPMed
rs1456038527 CA365238343	231	E>D		No	ClinGen TOPMed
rs1272288332 CA365238358	232	E>D		No	ClinGen gnomAD
CA3957276 rs577890969	233	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	234	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751647289 CA3957277	234	P>L		No	ClinGen ExAC gnomAD
CA365238430 rs1247040027	238	K>E		No	ClinGen gnomAD
rs1199795139 CA365238434	238	K>T		No	ClinGen TOPMed
CA3957278 rs759857434	240	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1198978368 CA365238467	241	L>I		No	ClinGen gnomAD
rs771751370 CA3957289	245	E>D		No	ClinGen ExAC gnomAD
rs140630036 CA3957290	246	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1474439696 CA365238557	247	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3957291 rs746838076	247	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA3957293 rs776219148	251	G>D		No	ClinGen ExAC TOPMed gnomAD
CA145179446 rs1051986264	252	R>S		No	ClinGen Ensembl
CA365238600 rs1162045311	253	S>C		No	ClinGen gnomAD
rs774620104 CA3957296	254	Y>C		No	ClinGen ExAC gnomAD
CA3957295 rs373546052	254	Y>H		No	ClinGen ESP ExAC gnomAD
CA365238622 rs1317152007	256	H>N		No	ClinGen gnomAD
CA365238672 rs1358914530	259	Q>R		No	ClinGen TOPMed
CA145179458 rs890438403	260	D>N		No	ClinGen Ensembl
rs1028720077 CA145179464	260	D>V		No	ClinGen TOPMed gnomAD
CA365238700 rs1435370277	262	G>S		No	ClinGen TOPMed
CA3957299 rs752985644	263	V>A		No	ClinGen ExAC gnomAD
rs767912290 CA3957298	263	V>I		No	ClinGen ExAC gnomAD
CA3957300 rs760746039	266	R>P		No	ClinGen ExAC TOPMed gnomAD
rs760746039 CA365238750	266	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1396221070 CA365238746	266	R>W		No	ClinGen TOPMed
CA3957301 rs147439944	268	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3957302 rs754103178	268	T>I		No	ClinGen ExAC gnomAD
CA365238777 rs374768334	269	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3957303 rs374768334	269	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3957305 rs750001687	279	K>R		No	ClinGen ExAC TOPMed
rs1212331564 CA365238930	280	Q>E		No	ClinGen gnomAD
CA3957307 rs757888735 CA145179521	283	V>L		No	ClinGen ExAC TOPMed gnomAD
rs757888735 CA3957306	283	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3957310 rs781060864	286	G>A		No	ClinGen ExAC gnomAD
CA145179548 rs878893916	286	G>R		No	ClinGen Ensembl
rs747870092 CA3957311	288	T>K		No	ClinGen ExAC gnomAD
rs559751620	290	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA3957331 rs755989721 COSM201092	291	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1334245601 CA365239266	292	S>I		No	ClinGen TOPMed gnomAD
CA3957335 rs775688868	299	L>V		No	ClinGen ExAC gnomAD
CA3957337 rs768991982	301	G>A		No	ClinGen ExAC gnomAD
CA3957340 rs765589871	306	S>P		No	ClinGen ExAC gnomAD
TCGA novel	308	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762071859 CA145180096	309	M>L		No	ClinGen gnomAD
rs112293777 CA145180098	310	D>G		No	ClinGen Ensembl
rs1267650820 CA365239386	311	C>G		No	ClinGen gnomAD
rs138462889 CA3957357	315	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM364707 rs768630865 CA3957359	320	G>E	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3957362 rs769950440	322	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748401273 COSM1072109 CA3957361	322	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM1072110 rs773612198 CA3957363	323	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA365239495 rs1295522879	325	L>R		No	ClinGen TOPMed
CA365239499 rs1423005546	326	R>*		No	ClinGen gnomAD
CA145181653 rs1054163579	326	R>K		No	ClinGen TOPMed
CA3957367 rs760024633	329	I>M		No	ClinGen ExAC gnomAD
rs774736270 CA3957366	329	I>T		No	ClinGen ExAC gnomAD
rs1247235902 CA365239549	330	G>S		No	ClinGen gnomAD
rs1041328871 CA145182926	332	S>N		No	ClinGen Ensembl
rs1562206224 CA365239812	334	A>S		No	ClinGen Ensembl
CA145182948 rs78527695	336	R>W		No	ClinGen Ensembl
rs1386685098 CA365239852	340	F>L		No	ClinGen TOPMed
rs760258399 CA3957389	341	N>H		No	ClinGen ExAC gnomAD
rs377407493 CA3957390	347	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3957391 rs753551548	349	S>T		No	ClinGen ExAC gnomAD
CA3957392 rs761459779	350	A>V		No	ClinGen ExAC gnomAD
rs1245975906 CA365239923	351	A>T		No	ClinGen TOPMed
rs1431578879 CA365239947	354	R>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA365239956 rs1470304977	355	Y>C		No	ClinGen gnomAD
rs764971673 CA3957393	360	D>N		No	ClinGen ExAC TOPMed gnomAD
rs144961629 CA3957394	361	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs377154268 CA3957395	362	E>K		No	ClinGen ESP ExAC gnomAD
CA145183753 rs1043015319 COSM383468	364	G>A	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA145183761 rs904147521	365	Q>E		No	ClinGen TOPMed
rs1304645355 CA365240034	365	Q>R		No	ClinGen gnomAD
CA3957413 rs772917543	366	C>R		No	ClinGen ExAC gnomAD
rs960265724 CA145183765	367	I>V		No	ClinGen TOPMed gnomAD
CA3957414 rs762801722	368	S>P		No	ClinGen ExAC gnomAD
CA365240060 rs1202338750	369	R>I		No	ClinGen TOPMed
rs764184268 CA3957418	373	R>Q		No	ClinGen ExAC gnomAD
rs753936060 CA3957419	375	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1198914140 CA365240121	378	C>F		No	ClinGen gnomAD
rs867921549 CA145183807	379	V>A		No	ClinGen Ensembl
rs76630543 CA145183816	382	N>S		No	ClinGen Ensembl
CA3957422 rs746280076	384	D>V		No	ClinGen ExAC gnomAD
rs866354331 CA145183837	385	E>G		No	ClinGen Ensembl
rs199783657 CA145183842	386	D>E		No	ClinGen gnomAD
CA365240191 rs1447198241	388	Q>R		No	ClinGen TOPMed
CA3957423 rs139001225	389	N>D		No	ClinGen ESP ExAC gnomAD
TCGA novel	390	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780497682 CA3957424	392	V>G		No	ClinGen ExAC gnomAD
CA365240240 rs1430747219	395	M>I		No	ClinGen gnomAD
rs1346459311 CA365240236	395	M>T		No	ClinGen TOPMed gnomAD
rs76993973 CA3957426	395	M>V		No	ClinGen ExAC gnomAD
CA365240292 rs1470921398	400	I>N		No	ClinGen TOPMed
CA365240284 rs1334542606	400	I>V		No	ClinGen TOPMed
CA3957448 rs747668354	404	D>E		No	ClinGen ExAC gnomAD
CA3957449 rs769358205	405	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs777078730 CA3957450 COSM1072111	406	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA365240419 rs1244226490 COSM3393762	406	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1461190844 CA365240442	408	G>R		No	ClinGen gnomAD
rs1584081090 CA365240482	411	V>M		No	ClinGen Ensembl
CA3957451 rs748993841	412	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	412	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365240550 rs1157578965	416	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1409140018 CA365240605	421	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	422	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	423	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1470639808 CA365240641	424	I>V		No	ClinGen gnomAD
TCGA novel	429	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1177141948 CA365240675	429	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1336077161 CA365240869	444	V>I		No	ClinGen gnomAD
CA145184073 rs899045589	446	E>D		No	ClinGen TOPMed gnomAD
CA365240914 rs1302769226	447	W>*		No	ClinGen gnomAD
rs1175222255 CA365241311	450	P>T		No	ClinGen TOPMed
TCGA novel	456	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3957467 rs753250452	456	I>V		No	ClinGen ExAC gnomAD
CA365241435 rs1406884907	462	H>Q		No	ClinGen gnomAD
CA365241426 rs1348853642	462	H>Y		No	ClinGen gnomAD
CA3957468 rs756531555	466	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3957469 rs777393948	468	T>I		No	ClinGen ExAC TOPMed gnomAD
rs777393948 CA365241499	468	T>S		No	ClinGen ExAC TOPMed gnomAD
CA145188357 rs936609494	473	G>E		No	ClinGen Ensembl
rs1490420860 CA365241618	474	K>E		No	ClinGen gnomAD
CA365241623 rs1390110559	474	K>N		No	ClinGen gnomAD
rs767953935 CA3957483	476	L>I		No	ClinGen ExAC gnomAD
CA365241642 rs1298465201	477	A>V		No	ClinGen gnomAD
CA365241668 rs1228193104	481	M>T		No	ClinGen gnomAD
CA145188367 rs1004630695	481	M>V		No	ClinGen TOPMed gnomAD
CA365241687 rs1295892444	483	N>K		No	ClinGen gnomAD
rs575278093 CA145188369	484	Q>E		No	ClinGen Ensembl
CA3957486 rs371852308	488	F>S		No	ClinGen ESP ExAC gnomAD
CA145188374 rs566883621	488	F>V		No	ClinGen 1000Genomes
rs1009270371 CA145188379	490	A>S		No	ClinGen Ensembl
rs753408616 CA3957487	491	Q>R		No	ClinGen ExAC gnomAD
rs1441108930 CA365241759	494	F>Y		No	ClinGen TOPMed
CA3957489 rs778331544	500	K>I		No	ClinGen ExAC gnomAD
CA3957491 rs376777025	501	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA145188397 rs376777025	501	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3957490 rs745554415	501	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1444939895 CA365241831	504	G>D		No	ClinGen gnomAD
rs1283294353 CA365241843	506	M>V		No	ClinGen TOPMed
rs1164516530 CA365241851	507	V>I		No	ClinGen gnomAD
CA365241869 rs1456494215	510	Y>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	518	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748040538 CA3957496	520	M>L		No	ClinGen ExAC TOPMed gnomAD
rs748040538 CA365241942	520	M>V		No	ClinGen ExAC TOPMed gnomAD
CA3957514 rs553677770	531	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA365242155 rs1307178354	532	L>V		No	ClinGen gnomAD
rs1175716414 CA365242213	536	D>Y		No	ClinGen TOPMed
CA145188814 rs145618482	538	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA365242243 rs1349349636	538	K>Q		No	ClinGen gnomAD
rs1454874272 CA365242250	538	K>R		No	ClinGen TOPMed
CA365242264 rs1177147530	539	T>A		No	ClinGen TOPMed
CA3957516 rs774616067	540	T>R		No	ClinGen ExAC TOPMed gnomAD
CA365242281 rs1324162969	541	K>E		No	ClinGen gnomAD
CA3957517 rs373015941	544	S>G		No	ClinGen ESP ExAC gnomAD
CA365242341 rs1179186790	545	R>*		No	ClinGen gnomAD
rs772396649 CA3957518	545	R>Q		No	ClinGen ExAC gnomAD
CA3957519 rs775593127	546	F>S		No	ClinGen ExAC gnomAD
rs760888461 CA3957520	550	D>G		No	ClinGen ExAC gnomAD
TCGA novel	550	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365242457 rs1432144521	553	C>Y		No	ClinGen gnomAD
CA145188832 rs200633529	555	G>D		No	ClinGen 1000Genomes
rs764476491 CA3957521	556	A>V		No	ClinGen ExAC gnomAD
CA3957522 rs776935214	557	V>L		No	ClinGen ExAC gnomAD
rs1357785100 CA365242512	559	H>N		No	ClinGen gnomAD
CA365242538 rs1342202452	560	P>L		No	ClinGen TOPMed
rs1281844266 CA365242595	564	S>F		No	ClinGen TOPMed
rs1234514749 CA365242614	566	V>I		No	ClinGen TOPMed
CA365242677 rs1352504973	571	W>*		No	ClinGen TOPMed
rs1369525650 CA365242704	573	G>S		No	ClinGen gnomAD
rs1407512495 CA365242762	577	L>F		No	ClinGen gnomAD
TCGA novel	580	D>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with O60508

3 regional properties for O60508

Type	Name	Position	InterPro Accession
domain	CBS domain	441 - 508	IPR000644
domain	CNNM, transmembrane domain	175 - 355	IPR002550
domain	Ion transporter-like, CBS domain	369 - 498	IPR044751

Functions

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

4 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.
U2-type catalytic step 2 spliceosome	A spliceosomal complex that contains the U2, U5 and U6 snRNPs 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 U2, U5 and U6 snRNPs.

2 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.
RNA binding	Binding to an RNA molecule or a portion thereof.

2 GO annotations of biological process

Name	Definition
embryonic brain development	The process occurring during the embryonic phase whose specific outcome is the progression of the brain over time, from its formation to the mature structure.
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.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9DC48	Cdc40	Pre-mRNA-processing factor 17	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MSAAIAALAA	SYGSGSGSES	DSDSESSRCP	LPAADSLMHL	TKSPSSKPSL	AVAVDSAPEV
70	80	90	100	110	120
AVKEDLETGV	HLDPAVKEVQ	YNPTYETMFA	PEFGPENPFR	TQQMAAPRNM	LSGYAEPAHI
130	140	150	160	170	180
NDFMFEQQRR	TFATYGYALD	PSLDNHQVSA	KYIGSVEEAE	KNQGLTVFET	GQKKTEKRKK
190	200	210	220	230	240
FKENDASNID	GFLGPWAKYV	DEKDVAKPSE	EEQKELDEIT	AKRQKKGKQE	EEKPGEEKTI
250	260	270	280	290	300
LHVKEMYDYQ	GRSYLHIPQD	VGVNLRSTMP	PEKCYLPKKQ	IHVWSGHTKG	VSAVRLFPLS
310	320	330	340	350	360
GHLLLSCSMD	CKIKLWEVYG	ERRCLRTFIG	HSKAVRDICF	NTAGTQFLSA	AYDRYLKLWD
370	380	390	400	410	420
TETGQCISRF	TNRKVPYCVK	FNPDEDKQNL	FVAGMSDKKI	VQWDIRSGEI	VQEYDRHLGA
430	440	450	460	470	480
VNTIVFVDEN	RRFVSTSDDK	SLRVWEWDIP	VDFKYIAEPS	MHSMPAVTLS	PNGKWLACQS
490	500	510	520	530	540
MDNQILIFGA	QNRFRLNKKK	IFKGHMVAGY	ACQVDFSPDM	SYVISGDGNG	KLNIWDWKTT
550	560	570
KLYSRFKAHD	KVCIGAVWHP	HETSKVITCG	WDGLIKLWD