AiPD: Autoinhibited Protein Database

Q9NPB8

Gene name	GPCPD1 (GDE5, KIAA1434)
Protein name	Glycerophosphocholine phosphodiesterase GPCPD1
Names	Glycerophosphodiester phosphodiesterase 5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56261
EC number	3.1.4.2: Phosphoric diester hydrolases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

118-225 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

118-225 (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 Q9NPB8

Entry ID	Method	Resolution	Chain	Position	Source
2Z0B	X-ray	200 A	A/B/C/D/E/F	3-120	PDB
AF-Q9NPB8-F1	Predicted				AlphaFoldDB

397 variants for Q9NPB8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA311146457 rs756699344	2	T>A		No	ClinGen Ensembl
rs780051276 CA9755171	2	T>K		No	ClinGen ExAC TOPMed gnomAD
rs76150038 CA408169387	3	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9755170 rs76150038	3	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750536884 CA9755169	4	S>P		No	ClinGen ExAC gnomAD
CA9755167 rs758288404	6	V>F		No	ClinGen ExAC gnomAD
CA9755166 rs752496273	7	A>V		No	ClinGen ExAC gnomAD
rs544415782 CA9755165	11	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1231208320 CA408169328	12	G>E		No	ClinGen gnomAD
CA311141366 rs911432021	19	V>I		No	ClinGen Ensembl
rs187507776 CA9755140	21	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs187507776 CA9755139	21	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1426830136 CA408168816	22	I>T		No	ClinGen TOPMed
CA9755135 rs749913397	27	D>V		No	ClinGen ExAC TOPMed gnomAD
CA311141341 rs913010081	28	A>D		No	ClinGen TOPMed gnomAD
CA408168766 rs1440425040	29	L>F		No	ClinGen gnomAD
rs1280653153 CA408168737	33	N>S		No	ClinGen TOPMed
CA408168731 rs1196811296	34	P>S		No	ClinGen gnomAD
CA408168691 rs1435476729	40	L>F		No	ClinGen TOPMed gnomAD
rs774827192 CA9755132	41	L>I		No	ClinGen ExAC TOPMed gnomAD
CA311141329 rs959728469	41	L>R		No	ClinGen TOPMed gnomAD
rs1290514379 CA408168680	42	P>Q		No	ClinGen TOPMed
rs1485056770 CA408168676	43	E>Q		No	ClinGen gnomAD
rs376344335 CA311141326	45	D>G		No	ClinGen ESP TOPMed gnomAD
CA9755130 rs764654323	49	S>R		No	ClinGen ExAC gnomAD
rs750057656 CA9755116	50	M>K		No	ClinGen ExAC gnomAD
CA311193555 rs1000111597	51	L>Q		No	ClinGen Ensembl
rs780956796 CA9755115	56	I>V		No	ClinGen ExAC gnomAD
CA408173329 rs1244951446	58	L>V		No	ClinGen TOPMed
CA311193542 rs528659909 CA408173309	61	G>R		No	ClinGen TOPMed
CA9755113 rs751111824	62	V>I		No	ClinGen ExAC gnomAD
CA311193538 rs748431529	63	S>L		No	ClinGen Ensembl
rs1424358081 CA408173299	63	S>T		No	ClinGen TOPMed
CA408173293 rs1436721887	64	V>L		No	ClinGen Ensembl
CA408173284 rs1156607307	65	Q>R		No	ClinGen gnomAD
CA408173270 rs1473532289	67	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1464554250 CA408173269 COSM1028328	67	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1171902702 CA408173252	69	F>L		No	ClinGen TOPMed gnomAD
CA9755110 rs752991476	69	F>V		No	ClinGen ExAC gnomAD
rs765533654 CA9755109	70	K>R		No	ClinGen ExAC TOPMed gnomAD
CA311193528 rs369193448	72	Y>*		No	ClinGen ESP ExAC
TCGA novel	74	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9755107 rs200328880	74	L>S		No	ClinGen 1000Genomes ExAC gnomAD
rs962601398 CA311189817	78	T>S		No	ClinGen TOPMed gnomAD
CA9755087 rs765836026	79	I>V		No	ClinGen ExAC gnomAD
CA9755085 rs754276290	80	G>D		No	ClinGen ExAC gnomAD
rs1450848730 CA408173170	80	G>S		No	ClinGen gnomAD
CA408173117 rs1195702551	88	H>D		No	ClinGen TOPMed
rs1357392424 CA408173114	88	H>R		No	ClinGen gnomAD
rs1308796996 CA408173081	92	T>S		No	ClinGen gnomAD
CA9755083 rs761012815	97	R>*		No	ClinGen ExAC gnomAD
rs369609679 CA9755082	97	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA408173042 rs1193879535	99	I>V		No	ClinGen TOPMed
CA408173033 rs1348625931	100	T>I		No	ClinGen gnomAD
CA408173032 rs1348625931	100	T>N		No	ClinGen gnomAD
rs146905586 CA9755063	104	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199503624 CA9755060	105	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs199503624 CA408172988	105	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs142930328 CA9755061 COSM1412655	105	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA9755059 rs745907369	106	I>F		No	ClinGen ExAC TOPMed gnomAD
CA408172983 rs745907369	106	I>V		No	ClinGen ExAC TOPMed gnomAD
rs544604483 CA9755057	110	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs772815723 CA9755056	111	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1281379487 CA408172906	117	N>D		No	ClinGen gnomAD
rs762999736 CA9755037	118	G>D		No	ClinGen ExAC TOPMed gnomAD
CA408172882 rs1228193845	119	V>I		No	ClinGen TOPMed
CA311184353 rs1013605619	120	E>A		No	ClinGen TOPMed
rs146550851 CA408172862	122	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9755035 rs766339227	125	G>R		No	ClinGen ExAC gnomAD
rs771669916 CA9755032	129	C>F		No	ClinGen ExAC gnomAD
CA9755033 rs773010595	129	C>R		No	ClinGen ExAC gnomAD
rs1399466159 CA408172806	130	Q>H		No	ClinGen gnomAD
TCGA novel	134	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408172770 rs1373395969	136	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA311184220 rs1036818982	136	R>H		No	ClinGen TOPMed gnomAD
rs768203160 CA9755029	138	H>R		No	ClinGen ExAC gnomAD
TCGA novel	139	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408172739 rs1264421543	140	S>C		No	ClinGen TOPMed
CA408172722 rs1428614212	142	K>N		No	ClinGen TOPMed
rs1191772923 CA408172716	143	P>L		No	ClinGen TOPMed
CA408172711 rs1370986256	144	P>R		No	ClinGen TOPMed
rs886506484 CA311184187	146	S>L		No	ClinGen Ensembl
rs770473580 CA9755026	149	K>R		No	ClinGen ExAC gnomAD
rs1201020128 CA408172674	150	K>R		No	ClinGen TOPMed gnomAD
CA9755025 rs148144873	152	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781715931 CA9755024	156	R>G		No	ClinGen ExAC gnomAD
CA408172602 rs1227643446	159	V>L		No	ClinGen TOPMed
CA408172576 rs1377568511	163	L>V		No	ClinGen gnomAD
rs755990194 CA9754997	168	E>*		No	ClinGen ExAC gnomAD
CA9754996 rs750348022	169	D>H		No	ClinGen ExAC
TCGA novel	170	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1441220326 CA408172517	171	D>E		No	ClinGen gnomAD
CA9754994 rs761637589	171	D>N		No	ClinGen ExAC TOPMed gnomAD
CA408172513 rs1487793284	172	D>G		No	ClinGen gnomAD
rs78596430 CA9754991	174	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs556021601 CA9754992	174	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA311182497 rs556021601	174	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769412399 CA9754989	175	S>F		No	ClinGen ExAC gnomAD
rs376370791 CA9754988	176	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	178	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1412186330 CA408172474	179	L>F		No	ClinGen TOPMed
CA9754987 rs777161477	180	H>D		No	ClinGen ExAC gnomAD
CA408172463 rs1399159115	181	K>Q		No	ClinGen gnomAD
rs1338717868 CA408172447	182	M>I		No	ClinGen gnomAD
rs771386364 CA9754986	183	S>A		No	ClinGen ExAC gnomAD
rs747348999 CA9754985	184	N>S		No	ClinGen ExAC gnomAD
CA408172419 rs1420989955	187	E>K		No	ClinGen TOPMed
CA408172403 rs1468070392	189	S>P		No	ClinGen gnomAD
TCGA novel	190	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs551933592 CA9754982	191	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA408172379 rs779166223	192	S>R		No	ClinGen ExAC TOPMed gnomAD
COSM1028325 CA9754980 rs755047833	193	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs749409888 CA9754979	194	N>S		No	ClinGen ExAC gnomAD
TCGA novel	198	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1340879757 CA408172320	200	H>R		No	ClinGen TOPMed
rs758324455 CA9754974	203	P>L		No	ClinGen ExAC TOPMed gnomAD
CA311182353 rs948314396	205	C>R		No	ClinGen TOPMed
rs948314396 CA408172289	205	C>S		No	ClinGen TOPMed
rs377634608 CA9754971	206	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA408172278 rs377634608	206	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9754970 rs374185410	208	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs74908865 CA9754969	209	L>F		No	ClinGen ExAC gnomAD
rs761090079 CA9754968	214	W>R		No	ClinGen ExAC gnomAD
rs1600756001 CA408172221	215	T>A		No	ClinGen Ensembl
CA408172208 rs773566572	217	Y>D		No	ClinGen ExAC gnomAD
CA9754967 rs773566572	217	Y>H		No	ClinGen ExAC gnomAD
rs772415258 CA9754966	219	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1408758758 CA408172186	220	Q>E		No	ClinGen gnomAD
CA9754965 rs748581132 COSM179216	221	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1379120324 CA408172168	222	M>I		No	ClinGen TOPMed
CA311182291 rs979406970	222	M>R		No	ClinGen TOPMed
TCGA novel	230	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	232	D>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	234	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1367518378 CA408172079	235	E>K		No	ClinGen TOPMed gnomAD
rs267606011 CA311179928	236	E>V		No	ClinGen Ensembl
rs899069125 CA311179910	241	H>R		No	ClinGen TOPMed
CA9754935 rs369115464	242	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs778854587 CA408172010	243	V>I		No	ClinGen ExAC gnomAD
rs778854587 CA9754934	243	V>L		No	ClinGen ExAC gnomAD
rs753417437 CA9754932	244	Q>H		No	ClinGen ExAC gnomAD
rs144531830 CA9754931	245	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA408171982 rs1159029432	247	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	255	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1490591594 CA408171926 COSM266606	256	C>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs767963186 CA9754928	259	S>P		No	ClinGen ExAC gnomAD
rs762342727 CA9754927	262	I>V		No	ClinGen ExAC gnomAD
rs751858462 CA9754926	263	A>V		No	ClinGen ExAC gnomAD
rs1055890254 CA311179837	265	S>R		No	ClinGen TOPMed
rs764458312 CA9754925	270	G>E		No	ClinGen ExAC gnomAD
rs371569106 CA311179829	271	I>S		No	ClinGen ESP TOPMed gnomAD
VAR_022060 rs2273373 CA9754924	273	T>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1600749516 CA408171807	275	P>S		No	ClinGen Ensembl
rs759481938 CA9754921	277	M>I		No	ClinGen ExAC gnomAD
CA9754922 rs770101039	277	M>V		No	ClinGen ExAC gnomAD
CA408171781 rs1461325632	279	R>G		No	ClinGen TOPMed
CA408171770 rs1209005579	280	N>S		No	ClinGen TOPMed
rs1346417000 CA408171757	282	R>P		No	ClinGen TOPMed gnomAD
rs1346417000 CA408171758	282	R>Q		No	ClinGen TOPMed gnomAD
rs1397622219 CA408171759	282	R>W		No	ClinGen gnomAD
CA408171685 rs1435167765	291	D>G		No	ClinGen TOPMed
CA408171672 rs1296497053	293	I>V		No	ClinGen TOPMed
CA408171662 rs1404021556	294	I>T		No	ClinGen gnomAD
CA9754902 rs776794559	297	P>R		No	ClinGen ExAC gnomAD
rs1168242757 CA408171642	297	P>S		No	ClinGen TOPMed gnomAD
rs200838906 CA9754901	298	L>S		No	ClinGen 1000Genomes ExAC gnomAD
CA408171630 rs1181354093	299	P>Q		No	ClinGen gnomAD
rs774401526 CA9754899	300	G>A		No	ClinGen ExAC TOPMed gnomAD
CA9754900 COSM578077 rs770565815	300	G>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs768689765 CA9754898	302	S>I		No	ClinGen ExAC gnomAD
rs570520143 CA408171598	304	D>A		No	ClinGen 1000Genomes ExAC gnomAD
CA9754896 rs570520143	304	D>V		No	ClinGen 1000Genomes ExAC gnomAD
rs142868216 CA9754897	304	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA9754895 rs148544005	305	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs780883529 CA408171574	307	S>F		No	ClinGen ExAC gnomAD
rs780883529 CA9754893	307	S>Y		No	ClinGen ExAC gnomAD
rs756758424 CA9754892	310	S>F		No	ClinGen ExAC gnomAD
rs1286248111 CA408171553	311	K>E		No	ClinGen TOPMed
rs1453346045 CA408171550	311	K>T		No	ClinGen gnomAD
rs531008065 CA9754891	312	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA9754890 rs778090924	318	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752934839 CA9754888	319	L>S		No	ClinGen ExAC gnomAD
rs1184471129 CA408171452	326	A>T		No	ClinGen gnomAD
rs994819316 CA408171432	328	N>K		No	ClinGen TOPMed gnomAD
rs754105928 CA9754885	330	T>A		No	ClinGen ExAC gnomAD
rs1369411605 CA408171421	330	T>I		No	ClinGen TOPMed
rs1179323707	332	T>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1481131723 CA408171408	333	A>T		No	ClinGen gnomAD
CA408171397 rs1251561924	334	Q>R		No	ClinGen gnomAD
TCGA novel	340	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756436350 CA9754864	340	E>A		No	ClinGen ExAC
rs561383717 CA9754863	341	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs767652737 CA9754862	342	T>A		No	ClinGen ExAC gnomAD
CA9754861 rs761860780	342	T>S		No	ClinGen ExAC TOPMed gnomAD
CA408171327 rs1432686818	343	I>T		No	ClinGen TOPMed
rs752678117 CA9754860	343	I>V		No	ClinGen ExAC TOPMed gnomAD
rs141984830 CA9754857	344	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA9754859 rs765130246	344	A>S		No	ClinGen ExAC TOPMed gnomAD
CA408171293 rs770500520	348	N>K		No	ClinGen ExAC gnomAD
rs760330700 CA9754854	349	A>G		No	ClinGen ExAC TOPMed gnomAD
CA408171284 rs1206371344	350	A>V		No	ClinGen gnomAD
rs16991108 CA311177914	351	S>G		No	ClinGen Ensembl
CA408171234 rs1393897077	356	F>L		No	ClinGen gnomAD
rs1384115077 CA408171208	359	F>C		No	ClinGen gnomAD
rs781457048 CA9754827	361	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	363	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1243608826 CA408171169	365	K>R		No	ClinGen gnomAD
CA9754825 rs41282128	370	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9754824 rs41282128	370	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408171128 rs1196640804	371	V>A		No	ClinGen gnomAD
CA408171131 rs1435598518	371	V>L		No	ClinGen TOPMed
rs1358965262 CA408171122	372	Y>C		No	ClinGen gnomAD
rs1248261887 CA408171066	380	T>A		No	ClinGen gnomAD
rs1410066959 CA408171005	386	D>G		No	ClinGen gnomAD
rs1410066959 CA408171003	386	D>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1398936671 CA408171006	386	D>Y		No	ClinGen gnomAD
CA408170984 rs1600733275	389	P>S		No	ClinGen Ensembl
rs1600733253 CA408170974	391	E>*		No	ClinGen Ensembl
rs1479957859 CA408170929	397	V>L		No	ClinGen gnomAD
CA9754786 rs767232130	399	E>D		No	ClinGen ExAC TOPMed gnomAD
CA408170901 rs1600733226	401	T>A		No	ClinGen Ensembl
rs900056562 CA311172487	401	T>R		No	ClinGen Ensembl
CA9754785 rs757135430	402	F>S		No	ClinGen ExAC gnomAD
rs373983160 CA9754784	403	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs895539398 CA408170883	404	Q>E		No	ClinGen TOPMed gnomAD
CA311172450 rs895539398	404	Q>K		No	ClinGen TOPMed gnomAD
rs1600732045 CA408170815	412	H>Y		No	ClinGen Ensembl
CA408170805 rs1476404292	413	V>E		No	ClinGen gnomAD
CA408170799 rs979025696	414	T>I		No	ClinGen TOPMed gnomAD
rs979025696 CA311171861	414	T>S		No	ClinGen TOPMed gnomAD
CA408170764 rs374717840	420	D>N		No	ClinGen ESP TOPMed gnomAD
CA311171855 rs374717840	420	D>Y		No	ClinGen ESP TOPMed gnomAD
rs73078112 CA408170756	421	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs73078112 CA9754764	421	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA408170757 rs1204704019	421	R>W		No	ClinGen TOPMed gnomAD
rs1271784961 CA408170753	422	K>E		No	ClinGen gnomAD
rs992740291 CA311171846	422	K>R		No	ClinGen TOPMed gnomAD
rs374957195 CA9754745	424	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA9754743 rs754423850	426	V>G		No	ClinGen ExAC gnomAD
rs778664139 CA9754744	426	V>I		No	ClinGen ExAC gnomAD
rs766755254 CA9754741	430	N>S		No	ClinGen ExAC
rs1422762261 CA408170676	431	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9754740 rs761174805	432	F>V		No	ClinGen ExAC gnomAD
CA408170665 rs1164734794	433	S>*		No	ClinGen gnomAD
CA408170668 rs1301572328	433	S>T		No	ClinGen gnomAD
CA408170650 rs1418973622	435	N>S		No	ClinGen gnomAD
rs750729120 CA9754739	436	Q>H		No	ClinGen ExAC gnomAD
rs1179308282 CA408170618	440	S>P		No	ClinGen gnomAD
CA408170606 rs1568650528	442	K>E		No	ClinGen Ensembl
TCGA novel	442	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9754737 rs371882302	443	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9754738 rs767854889	443	M>L		No	ClinGen ExAC gnomAD
rs764187531 CA9754717	444	V>A		No	ClinGen ExAC gnomAD
CA408170567 rs1217705838	446	E>Q		No	ClinGen gnomAD
CA408170555 rs1329553929	447	S>F		No	ClinGen gnomAD
CA408170542 rs1408627054	449	P>L		No	ClinGen TOPMed
CA408170545 rs1282365216	449	P>S		No	ClinGen gnomAD
CA408170525 rs1568647340	452	V>I		No	ClinGen Ensembl
CA408170481 rs1302155973	458	I>V		No	ClinGen TOPMed gnomAD
CA408170457 rs1381654870	461	I>L		No	ClinGen gnomAD
rs866180811 CA311166955	461	I>M		No	ClinGen gnomAD
CA408170455 rs1383462994	461	I>N		No	ClinGen gnomAD
rs765398981 CA9754714	463	Q>P		No	ClinGen ExAC gnomAD
rs1172762816 CA408170404	466	D>V		No	ClinGen gnomAD
rs1385984129 CA408170397	467	G>E		No	ClinGen TOPMed
CA408170400 rs1461147084	467	G>R		No	ClinGen TOPMed gnomAD
rs764536764 CA9754700	468	M>T		No	ClinGen ExAC gnomAD
rs1169924397 CA408170378	470	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9754698 rs752929606	474	S>L		No	ClinGen ExAC TOPMed gnomAD
CA9754699 rs569976354	474	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs373745438 CA9754697	475	T>I		No	ClinGen ESP ExAC gnomAD
rs1337676614 CA408170290	482	F>S		No	ClinGen gnomAD
rs199723498 CA311165923	484	D>G		No	ClinGen gnomAD
CA408170272 rs1205788696	485	I>V		No	ClinGen TOPMed
CA9754692 rs774214065	486	I>V		No	ClinGen ExAC gnomAD
rs1313491697 CA408170245	488	K>N		No	ClinGen gnomAD
rs992878810 CA311165893	489	T>S		No	ClinGen TOPMed
TCGA novel	491	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408170232 rs1341488353	491	L>V		No	ClinGen gnomAD
CA311165879 rs367864406	493	N>D		No	ClinGen ESP TOPMed gnomAD
TCGA novel	494	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777683264 CA311165855	494	S>Y		No	ClinGen gnomAD
rs762698155 CA9754689	495	G>E		No	ClinGen ExAC TOPMed gnomAD
CA408170206 rs768495327 CA9754690	495	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1056925156 CA311165826	496	K>E		No	ClinGen TOPMed gnomAD
rs1429767192 CA408170175	499	I>M		No	ClinGen gnomAD
CA408170147 rs1384560747	504	F>L		No	ClinGen gnomAD
CA311165816 rs1001390921	504	F>S		No	ClinGen TOPMed gnomAD
rs1161635597 CA408170141	505	D>N		No	ClinGen gnomAD
rs775103361 CA9754688	505	D>V		No	ClinGen ExAC gnomAD
rs150468905 CA9754686	511	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA311164516 rs928060843	512	V>I		No	ClinGen TOPMed gnomAD
CA408170074 rs770440181	513	R>G		No	ClinGen ExAC TOPMed gnomAD
CA408170073 rs1203782148	513	R>Q		No	ClinGen gnomAD
CA9754664 rs770440181	513	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	515	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs981278478 CA311164504	517	N>D		No	ClinGen TOPMed gnomAD
rs746546069 CA9754663	517	N>S		No	ClinGen ExAC gnomAD
CA9754660 COSM137196 rs772485059	520	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9754658 rs779432126	526	Q>R		No	ClinGen ExAC gnomAD
COSM1412652 CA9754656 rs754108015	527	G>E	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA9754657 rs755451650	527	G>R		No	ClinGen ExAC gnomAD
TCGA novel	529	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA408169941 rs1427379636	532	Y>C		No	ClinGen TOPMed gnomAD
rs1427379636 CA408169940	532	Y>F		No	ClinGen TOPMed gnomAD
CA311164439 rs973976269	533	P>L		No	ClinGen TOPMed
rs1296034253 CA408169937	533	P>S		No	ClinGen TOPMed
rs950528459 CA311164433	537	D>N		No	ClinGen Ensembl
CA408169899 rs1244892692	538	L>R		No	ClinGen TOPMed
rs1478371341 CA408169885	540	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9754652 rs750493791	541	R>G		No	ClinGen ExAC TOPMed gnomAD
CA408169883 rs1191724960	541	R>Q		No	ClinGen TOPMed gnomAD
CA9754653 rs750493791	541	R>W		No	ClinGen ExAC TOPMed gnomAD
CA408169874 rs1179447177	543	T>S		No	ClinGen gnomAD
CA9754650 rs762885607	544	P>A		No	ClinGen ExAC gnomAD
rs199557724 CA9754648	545	I>T		No	ClinGen ExAC TOPMed gnomAD
CA9754649 rs141677622	545	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9754647 rs759361971	547	M>K		No	ClinGen ExAC gnomAD
rs1208855101 CA408169841	548	S>I		No	ClinGen gnomAD
CA408169823 rs1220482159	550	A>V		No	ClinGen gnomAD
rs776239446 CA9754646	551	Q>R		No	ClinGen ExAC gnomAD
CA9754633 rs547357795	561	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA408169739 rs547357795	561	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781148423 CA9754632	564	D>H		No	ClinGen ExAC gnomAD
CA408169718 rs1354083940	564	D>V		No	ClinGen gnomAD
CA9754631 rs757389494	567	R>G		No	ClinGen ExAC gnomAD
rs1391358268 CA408169689 CA408169690	568	N>K		No	ClinGen TOPMed gnomAD
CA9754630 rs752631402	569	P>A		No	ClinGen ExAC gnomAD
CA9754629 rs765203347	569	P>L		No	ClinGen ExAC TOPMed gnomAD
rs765203347 CA408169686	569	P>R		No	ClinGen ExAC TOPMed gnomAD
rs762561137 CA9754627	572	I>S		No	ClinGen ExAC TOPMed gnomAD
CA9754626 rs765987929	574	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA408169632 rs1568644551	577	A>D		No	ClinGen Ensembl
CA9754625 rs760256732	579	G>R		No	ClinGen ExAC gnomAD
rs532239169 CA9754624	581	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs532239169 CA408169611	581	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs986447542 CA311163791	582	I>V		No	ClinGen TOPMed
TCGA novel	584	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA311163787 rs946686789	585	W>L		No	ClinGen Ensembl
CA311163783 rs966483084	586	G>D		No	ClinGen TOPMed
rs1483729168 CA408169576	586	G>S		No	ClinGen gnomAD
rs767131054 CA9754623	592	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9754622 rs761448888	594	N>D		No	ClinGen ExAC TOPMed gnomAD
rs774977903 CA9754621	596	R>K		No	ClinGen ExAC TOPMed gnomAD
rs914891868 CA311163748	601	L>V		No	ClinGen gnomAD
CA9754618 rs775724264	603	V>A		No	ClinGen ExAC TOPMed gnomAD
CA9754616 rs746067827	605	G>R		No	ClinGen ExAC gnomAD
rs1327693435 CA408169434	607	I>V		No	ClinGen gnomAD
rs1456902335 CA408169409	610	R>K		No	ClinGen gnomAD
CA408169294 rs1390293517	611	I>V		No	ClinGen TOPMed
rs1203888407 CA408169269	612	Y>*		No	ClinGen gnomAD
rs1268126810 CA408169273	612	Y>C		No	ClinGen TOPMed gnomAD
TCGA novel	613	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9754595 rs192456172	614	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA408169246 rs1430908683	615	M>I		No	ClinGen gnomAD
CA408169251 rs1261417966	615	M>V		No	ClinGen TOPMed gnomAD
CA9754592 rs749150983	621	I>M		No	ClinGen ExAC gnomAD
rs200371769 CA9754590	627	L>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	628	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9754589 rs185880154	629	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs146963061 CA9754588	629	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs756998762 CA9754587	631	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1441451459 CA408169084	638	K>N		No	ClinGen gnomAD
CA408169071 rs1195847077	640	C>F		No	ClinGen TOPMed
rs200651245 CA311155519	645	V>A		No	ClinGen 1000Genomes
CA9754585 rs763673025	646	S>N		No	ClinGen ExAC gnomAD
CA9754584 rs201514222	646	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141086440 CA9754583	647	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs140687246 CA9754581	647	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9754582 rs140687246	647	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199728207 CA311155472	649	V>I		No	ClinGen 1000Genomes
rs866009014 CA311155466	650	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9754580 rs777014844	651	S>L		No	ClinGen ExAC gnomAD
CA9754579 rs771095521	652	S>P		No	ClinGen ExAC TOPMed gnomAD
CA408169001 rs771095521	652	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1388185096 CA408168980	655	G>W		No	ClinGen gnomAD
rs1190301610 CA408168974	656	E>*		No	ClinGen gnomAD
CA408168969 rs1465149891	656	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1255182858 CA408168963	657	S>F		No	ClinGen TOPMed gnomAD
TCGA novel	659	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9754577 rs773464877	659	I>T		No	ClinGen ExAC gnomAD
CA9754578 rs760866410	659	I>V		No	ClinGen ExAC gnomAD
rs748317330 CA408168944	660	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs372909459 CA9754576	660	H>R		No	ClinGen ESP ExAC gnomAD
rs1340684379 CA408168940	661	V>M		No	ClinGen TOPMed gnomAD
rs1327193298 CA408168932	662	D>G		No	ClinGen TOPMed
rs1327193298 CA408168931	662	D>V		No	ClinGen TOPMed
rs1171510570 CA408168924	663	A>G		No	ClinGen gnomAD
rs1218263713 CA408168921	664	N>D		No	ClinGen TOPMed
rs1256158337 CA408168918	664	N>S		No	ClinGen TOPMed
rs201864662 CA9754570	665	G>D		No	ClinGen ExAC TOPMed gnomAD
rs781154212 CA9754571	665	G>S		No	ClinGen ExAC gnomAD
rs375076223 CA408168889	668	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs752260906 CA9754567	669	V>L		No	ClinGen ExAC TOPMed gnomAD
rs752260906 CA9754566	669	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9754565 rs765626066	672	A>G		No	ClinGen ExAC gnomAD

No associated diseases with Q9NPB8

4 regional properties for Q9NPB8

Type	Name	Position	InterPro Accession
domain	Aminoacyl-tRNA synthetase, class II (G/ P/ S/T)	222 - 399	IPR002314
domain	Aminoacyl-tRNA synthetase, class II	172 - 409	IPR006195
domain	Serine-tRNA synthetase, type1, N-terminal	1 - 108	IPR015866
domain	Serine-tRNA ligase catalytic core domain	120 - 416	IPR033729

Functions

		Description
EC Number	3.1.4.2	Phosphoric diester hydrolases
Subcellular Localization	Cytoplasm, cytosol
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

2 GO annotations of molecular function

Name	Definition
glycerophosphocholine phosphodiesterase activity	Catalysis of the reaction: H2O + L-1-glycero-3-phosphocholine = glycerol-3-phosphate + choline.
starch binding	Binding to starch.

2 GO annotations of biological process

Name	Definition
glycerophospholipid catabolic process	The chemical reactions and pathways resulting in the breakdown of glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue.
skeletal muscle tissue development	The developmental sequence of events leading to the formation of adult skeletal muscle tissue. The main events are: the fusion of myoblasts to form myotubes that increase in size by further fusion to them of myoblasts, the formation of myofibrils within their cytoplasm and the establishment of functional neuromuscular junctions with motor neurons. At this stage they can be regarded as mature muscle fibers.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q02979	GDE1	Glycerophosphocholine phosphodiesterase GDE1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q8C0L9	Gpcpd1	Glycerophosphocholine phosphodiesterase GPCPD1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MTPSQVAFEI	RGTLLPGEVF	AICGSCDALG	NWNPQNAVAL	LPENDTGESM	LWKATIVLSR
70	80	90	100	110	120
GVSVQYRYFK	GYFLEPKTIG	GPCQVIVHKW	ETHLQPRSIT	PLESEIIIDD	GQFGIHNGVE
130	140	150	160	170	180
TLDSGWLTCQ	TEIRLRLHYS	EKPPVSITKK	KLKKSRFRVK	LTLEGLEEDD	DDRVSPTVLH
190	200	210	220	230	240
KMSNSLEISL	ISDNEFKCRH	SQPECGYGLQ	PDRWTEYSIQ	TMEPDNLELI	FDFFEEDLSE
250	260	270	280	290	300
HVVQGDALPG	HVGTACLLSS	TIAESGKSAG	ILTLPIMSRN	SRKTIGKVRV	DYIIIKPLPG
310	320	330	340	350	360
YSCDMKSSFS	KYWKPRIPLD	VGHRGAGNST	TTAQLAKVQE	NTIASLRNAA	SHGAAFVEFD
370	380	390	400	410	420
VHLSKDFVPV	VYHDLTCCLT	MKKKFDADPV	ELFEIPVKEL	TFDQLQLLKL	THVTALKSKD
430	440	450	460	470	480
RKESVVQEEN	SFSENQPFPS	LKMVLESLPE	DVGFNIEIKW	ICQQRDGMWD	GNLSTYFDMN
490	500	510	520	530	540
LFLDIILKTV	LENSGKRRIV	FSSFDADICT	MVRQKQNKYP	ILFLTQGKSE	IYPELMDLRS
550	560	570	580	590	600
RTTPIAMSFA	QFENLLGINV	HTEDLLRNPS	YIQEAKAKGL	VIFCWGDDTN	DPENRRKLKE
610	620	630	640	650	660
LGVNGLIYDR	IYDWMPEQPN	IFQVEQLERL	KQELPELKSC	LCPTVSRFVP	SSLCGESDIH
670
VDANGIDNVE	NA