AiPD: Autoinhibited Protein Database

Q9C0D0

Gene name	PHACTR1 (KIAA1733, RPEL1)
Protein name	Phosphatase and actin regulator 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:221692
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-580 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-580 (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

7 structures for Q9C0D0

Entry ID	Method	Resolution	Chain	Position	Source
6ZEE	X-ray	190 A	C/D/U/V/W/X	508-580	PDB
6ZEF	X-ray	194 A	C/D	516-580	PDB
6ZEG	X-ray	109 A	C/D	516-580	PDB
6ZEH	X-ray	130 A	C/D	516-580	PDB
6ZEI	X-ray	139 A	C/D	516-580	PDB
6ZEJ	X-ray	178 A	A/D/F/I/L/O	526-580	PDB
AF-Q9C0D0-F1	Predicted				AlphaFoldDB

378 variants for Q9C0D0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001263001 rs1468591163	419	C>S	Developmental and epileptic encephalopathy, 70 [ClinVar]	Yes	ClinVar dbSNP
CA362761087 RCV000754624 rs1562103192 VAR_081810	479	N>I	Developmental and epileptic encephalopathy, 70 DEE70; severely impaired interaction with actin [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000754623 rs1562114406 VAR_081811	500	L>P	Developmental and epileptic encephalopathy, 70 DEE70; severely impaired interaction with actin [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
rs748743403 RCV000754622 VAR_069379 RCV002249452 CA3639428	521	R>C	Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 70 DEE70; loss of interaction with PP1 complex [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs200984506 CA134309160	6	M>I		No	ClinGen Ensembl
rs1268102145 CA362857879	12	V>L		No	ClinGen gnomAD
rs1215470007 CA362857915	17	R>K		No	ClinGen gnomAD
CA3638802 rs779956248	17	R>S		No	ClinGen ExAC
CA134309162 rs775033646	18	L>F		No	ClinGen Ensembl
rs749159097 CA3638803	19	L>F		No	ClinGen ExAC gnomAD
CA134309163 rs778172751	19	L>S		No	ClinGen Ensembl
CA362857927 rs1212914937	20	D>N		No	ClinGen TOPMed gnomAD
CA3638804 rs768599508	21	V>I		No	ClinGen ExAC gnomAD
CA362857940 rs1330910276	22	E>K		No	ClinGen TOPMed
CA362857950 rs1258298547	23	S>A		No	ClinGen gnomAD
rs1488032191 CA362857958	24	A>G		No	ClinGen gnomAD
rs866496706 CA134309166	24	A>T		No	ClinGen Ensembl
rs1289245499 CA362857979	27	F>C		No	ClinGen TOPMed
rs1177638986 CA362858001	30	S>N		No	ClinGen Ensembl
TCGA novel	32	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA134309168 rs866598095	33	A>D		No	ClinGen Ensembl
rs1465028441 CA362857524	44	P>H		No	ClinGen TOPMed
rs1259647242 CA362857528	45	T>A		No	ClinGen gnomAD
rs775882579 CA3638862	46	L>F		No	ClinGen ExAC gnomAD
CA362857559 rs1561846804	49	A>V		No	ClinGen Ensembl
rs1581578028 CA362857572	51	S>L		No	ClinGen Ensembl
CA3638864 rs769102139	53	D>E		No	ClinGen ExAC gnomAD
TCGA novel	53	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3638865 rs774732433	54	D>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760163672 CA3638866	55	I>T		No	ClinGen ExAC TOPMed gnomAD
rs928863874 CA134312523	55	I>V		No	ClinGen TOPMed
CA3638867 rs765869702	60	I>F		No	ClinGen ExAC gnomAD
CA362857625 rs765869702	60	I>V		No	ClinGen ExAC gnomAD
rs759309026 CA3638869	61	R>W		No	ClinGen ExAC gnomAD
CA3638873 rs777712354	63	V>G		No	ClinGen ExAC gnomAD
CA3638872 rs758295746	63	V>L		No	ClinGen ExAC gnomAD
CA134312524 rs868040089	64	R>C		No	ClinGen Ensembl
rs757356183 CA3638875	69	T>A		No	ClinGen ExAC gnomAD
rs1305654074 CA362857684	69	T>M		No	ClinGen gnomAD
rs781189534 CA3638876	71	Y>H		No	ClinGen ExAC gnomAD
rs535263200 CA362857709	73	A>E		No	ClinGen 1000Genomes ExAC gnomAD
CA134312526 rs909316430	73	A>T		No	ClinGen TOPMed
CA3638877 rs535263200	73	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1463066420 CA362857714	74	E>A		No	ClinGen TOPMed
rs373807800 CA134312527	74	E>D		No	ClinGen ESP TOPMed gnomAD
COSM222090 CA362857711 rs1260903945	74	E>K	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs933456395 CA134312528	77	I>M		No	ClinGen Ensembl
CA362857767 rs1422120610	82	G>A		No	ClinGen TOPMed
CA3638879 rs780286778	82	G>R		No	ClinGen ExAC gnomAD
CA362857770 rs749597463	83	A>S		No	ClinGen ExAC TOPMed gnomAD
rs749597463 CA3638880	83	A>T		No	ClinGen ExAC TOPMed gnomAD
CA362859552 rs1460912425	85	E>G		No	ClinGen gnomAD
rs763158389 CA3638974	87	V>A		No	ClinGen ExAC TOPMed gnomAD
rs763158389 CA362859597	87	V>G		No	ClinGen ExAC TOPMed gnomAD
CA3638973 rs573068931	87	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1561757541 CA362859600	88	E>Q		No	ClinGen Ensembl
rs1311153920 CA362859612	89	R>S		No	ClinGen gnomAD
CA3638975 rs200804785	91	A>G		No	ClinGen ExAC TOPMed gnomAD
CA3638976 rs200804785 COSM1568082	91	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA362859626 rs767982489	92	A>E		No	ClinGen ExAC TOPMed gnomAD
CA3638978 rs767982489	92	A>G		No	ClinGen ExAC TOPMed gnomAD
CA362859625 rs767982489	92	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1342823517 CA362859633	93	M>I		No	ClinGen gnomAD
CA362859632 rs1276630125	93	M>R		No	ClinGen gnomAD
CA362859628 rs1225127744	93	M>V		No	ClinGen gnomAD
CA3638980 rs756682776	94	R>C		No	ClinGen ExAC gnomAD
rs756682776 CA362859637	94	R>G		No	ClinGen ExAC gnomAD
rs61746695 CA3638982	94	R>H		No	ClinGen ExAC TOPMed gnomAD
rs61746695 CA134900357	94	R>L		No	ClinGen ExAC TOPMed gnomAD
rs61746695 CA3638981	94	R>P		No	ClinGen ExAC TOPMed gnomAD
rs958484545 CA362859642	95	S>C		No	ClinGen TOPMed gnomAD
rs958484545 CA134900371	95	S>F		No	ClinGen TOPMed gnomAD
rs1261428413 CA362859653	97	S>A		No	ClinGen gnomAD
CA3638984 rs777335936	97	S>Y		No	ClinGen ExAC gnomAD
rs1190930037 CA362859658	98	L>F		No	ClinGen gnomAD
CA3638985 rs746727398	98	L>H		No	ClinGen ExAC gnomAD
CA362859659 rs746727398	98	L>P		No	ClinGen ExAC gnomAD
rs911332535 CA362859662	99	V>F		No	ClinGen TOPMed gnomAD
rs911332535 COSM740178 CA134900420	99	V>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA362859675 rs1466718900	101	G>D		No	ClinGen gnomAD
rs976774929 CA134900435	102	T>S		No	ClinGen Ensembl
CA3638989 CA3638990 rs769734980	103	H>Q		No	ClinGen ExAC gnomAD
rs371601733 CA134900450	108	R>C		No	ClinGen ESP TOPMed gnomAD
rs749322966 COSM450469 CA3638991	108	R>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	111	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	112	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3638994 rs183412001	118	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA362859844 rs1484704808	126	R>K		No	ClinGen gnomAD
rs909793024 CA134900503	127	K>N		No	ClinGen Ensembl
CA3638996 rs773584945	131	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3638999 rs754343376	136	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1427330816 CA362859921	136	T>S		No	ClinGen TOPMed gnomAD
CA362859311 rs1411256083	140	L>P		No	ClinGen gnomAD
rs1354463048 CA362859314	141	E>Q		No	ClinGen gnomAD
TCGA novel	142	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362859348 rs1226895769	145	S>F		No	ClinGen gnomAD
rs755935424 CA3639024	146	M>V		No	ClinGen ExAC TOPMed gnomAD
CA362859366 rs1322836970	148	Q>*		No	ClinGen gnomAD
rs1204518733 CA362859376	149	S>T		No	ClinGen gnomAD
CA362859400 rs1583644592	152	E>V		No	ClinGen Ensembl
rs758125471 CA3639025	154	I>M*		No	ClinGen ExAC
CA362859425 rs1272530710	156	R>G		No	ClinGen gnomAD
rs1172881850 CA362859427	156	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	162	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1257024186 CA362859473	163	Y>C		No	ClinGen TOPMed gnomAD
CA135008452 rs879236130	163	Y>H		No	ClinGen gnomAD
rs1446644238 CA362861439	170	S>F		No	ClinGen gnomAD
rs1207816611 CA362861445	171	I>V		No	ClinGen gnomAD
rs749820467 CA3639059	172	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1466195767 CA362861472	173	N>S		No	ClinGen TOPMed gnomAD
CA135025240 rs991796097	174	E>A		No	ClinGen TOPMed
rs1479492905 CA362861501	175	E>G		No	ClinGen TOPMed
CA135025246 rs1000968652	177	S>F		No	ClinGen Ensembl
CA362861524 rs1259509463	177	S>P		No	ClinGen gnomAD
CA3639060 rs771578859	181	G>E		No	ClinGen ExAC
rs772556170 CA3639061	182	Q>L		No	ClinGen ExAC gnomAD
CA362861595 rs1476726690	183	S>F		No	ClinGen TOPMed gnomAD
CA135025257 rs1032482403	183	S>P		No	ClinGen gnomAD
CA362861587 rs1032482403	183	S>T		No	ClinGen gnomAD
CA362861603 rs1583777303	184	L>R		No	ClinGen Ensembl
rs760255382 CA3639062	185	S>R		No	ClinGen ExAC gnomAD
rs1583777368 CA362861622	186	S>P		No	ClinGen Ensembl
rs1391342505 CA362861649	189	L>P		No	ClinGen gnomAD
CA3639063 rs766071210	190	S>P		No	ClinGen ExAC gnomAD
rs867058077 CA135025262	193	A>T		No	ClinGen Ensembl
rs370949552 CA3639064	193	A>V		No	ClinGen ESP ExAC gnomAD
CA362861676 rs1469777656	194	L>R		No	ClinGen TOPMed
rs1561953828 CA362861673	194	L>V		No	ClinGen Ensembl
rs533330849 CA3639067	196	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA3639066 rs765179968 COSM1073241	196	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs533330849 CA135025270	196	E>V		No	ClinGen 1000Genomes ExAC gnomAD
rs758310838 CA362861692	197	M>R		No	ClinGen ExAC gnomAD
rs758310838 CA3639068	197	M>T		No	ClinGen ExAC gnomAD
CA362861696 rs376126977	198	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs376126977 CA3639069	198	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3639071 rs370905078	199	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs751548287 CA3639070	199	P>T		No	ClinGen ExAC gnomAD
TCGA novel	201	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1266537544 CA362861720	202	M>V		No	ClinGen gnomAD
CA3639073 rs746155299	206	P>S		No	ClinGen ExAC gnomAD
rs1200295890 CA362861763	208	S>A		No	ClinGen gnomAD
rs756458588 CA3639074	208	S>L		No	ClinGen ExAC TOPMed gnomAD
rs780332849 CA3639075	209	Y>C		No	ClinGen ExAC gnomAD
CA362861768 rs1472056042	209	Y>H		No	ClinGen TOPMed gnomAD
CA362861784 rs1458061937	211	V>L		No	ClinGen TOPMed gnomAD
CA362861782 rs1458061937	211	V>M		No	ClinGen TOPMed gnomAD
CA362861803 rs1389134777	214	P>A		No	ClinGen TOPMed gnomAD
rs367868310 CA3639078	214	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs367868310 CA3639079	214	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1389134777 CA362861802	214	P>T		No	ClinGen TOPMed gnomAD
rs1335287625 CA362861821	217	I>V		No	ClinGen gnomAD
CA135025306 rs760303560	218	M>T		No	ClinGen Ensembl
CA135025309 rs970962705	219	D>H		No	ClinGen TOPMed
CA3639081 rs776404997	220	G>E		No	ClinGen ExAC gnomAD
TCGA novel	223	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	224	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362858618 rs1295452474	225	A>T		No	ClinGen gnomAD
CA3639152 rs775861782	226	P>S		No	ClinGen ExAC
TCGA novel	229	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763409857 CA3639153	230	P>L		No	ClinGen ExAC
rs375270903 CA3639154	231	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	233	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs560164797 CA3639155	234	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757822922 CA3639156	236	L>P		No	ClinGen ExAC TOPMed gnomAD
rs757822922 CA362858689	236	L>R		No	ClinGen ExAC TOPMed gnomAD
CA3639158 rs549074819	239	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1461690922 CA362858720	242	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	243	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_053645 rs17602409 CA135033365	247	I>M		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1561991656 CA362858756	247	I>V		No	ClinGen Ensembl
rs1450751464 CA362858765	248	C>S		No	ClinGen gnomAD
CA3639162 rs758162728	250	P>T		No	ClinGen ExAC TOPMed gnomAD
CA3639164 CA3639166 rs375123444	251	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3639165 rs375123444	251	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3639173 rs764523793	252	G>A		No	ClinGen ExAC TOPMed gnomAD
rs764523793 CA362858788	252	G>E		No	ClinGen ExAC TOPMed gnomAD
rs763315633 CA3639171	252	G>R		No	ClinGen ExAC gnomAD
CA3639172 rs764523793	252	G>V		No	ClinGen ExAC TOPMed gnomAD
CA362858794 rs1358115998	253	G>V		No	ClinGen TOPMed
rs749326031	254	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs767998872 CA3639175	254	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749326031	254	P>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs767998872 CA362858796	254	P>S		No	ClinGen ExAC gnomAD
rs1583921386 CA362858803	255	D>A		No	ClinGen Ensembl
rs1274400769 CA362858825	259	V>M		No	ClinGen gnomAD
CA3639176 rs369952844	260	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3639177 rs754470150	262	T>A		No	ClinGen ExAC gnomAD
CA3639178 rs764776382	264	Q>H		No	ClinGen ExAC gnomAD
rs1326055657 CA362858871	266	S>G		No	ClinGen TOPMed
CA3639180 rs758003040	269	Q>K		No	ClinGen ExAC gnomAD
rs1266097903 CA362858895	269	Q>R		No	ClinGen gnomAD
rs777422304 CA3639181	270	G>V		No	ClinGen ExAC TOPMed gnomAD
rs751308519 CA3639182	272	A>T		No	ClinGen ExAC TOPMed gnomAD
CA362858917 rs1303017283	273	Q>K		No	ClinGen TOPMed
CA362858918 rs1583921805	273	Q>P		No	ClinGen Ensembl
rs757009456 CA3639183	275	H>L		No	ClinGen ExAC gnomAD
rs1476818978 CA362858936	275	H>Q		No	ClinGen TOPMed gnomAD
rs899506426 CA135033391	276	H>P		No	ClinGen TOPMed gnomAD
CA362858946 rs1475314942	277	T>A		No	ClinGen TOPMed
CA362858993 rs1322942031	284	Q>R		No	ClinGen gnomAD
rs749411246 CA3639188	285	H>P		No	ClinGen ExAC gnomAD
CA362858999 rs1329471968	285	H>Y		No	ClinGen gnomAD
rs554183443 CA135033397	286	Q>H		No	ClinGen 1000Genomes
TCGA novel	288	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3639189 rs768952315	288	Q>P		No	ClinGen ExAC gnomAD
CA3639191 rs774451395	289	Y>*		No	ClinGen ExAC gnomAD
CA3639192 rs772377879	290	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1286288500 CA362859040	291	S>N		No	ClinGen gnomAD
rs1303487162 CA362859055	293	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs377093681 COSM1440564 CA135033404	293	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
CA362859061 rs766899555	294	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs761205812 CA3639194	294	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA362859066 rs1276531110	295	H>P		No	ClinGen TOPMed
CA362859075 rs1583922804	296	L>P		No	ClinGen Ensembl
rs1220712730 CA362859072	296	L>V		No	ClinGen TOPMed
rs1472066777 CA362859087	298	S>C		No	ClinGen gnomAD
rs1583922911 CA362859089	299	T>P		No	ClinGen Ensembl
rs1365954525 CA362859096	300	T>A		No	ClinGen gnomAD
CA362859099 rs1470786490	300	T>I		No	ClinGen gnomAD
rs1407091371 CA362859104	301	G>A		No	ClinGen gnomAD
rs763737701 CA3639198	301	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1583923149 CA362859116	303	L>P		No	ClinGen Ensembl
CA362859129 rs1408303197	305	M>I		No	ClinGen gnomAD
rs1583923236 CA362859126	305	M>L		No	ClinGen Ensembl
rs1014470654 CA135033415	305	M>T		No	ClinGen TOPMed gnomAD
CA362859138 rs1409734239	306	H>Q		No	ClinGen TOPMed
rs977214969 CA135033417	306	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs376549077 CA3639201	307	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA135033420 rs970694890	308	S>L		No	ClinGen TOPMed gnomAD
rs780164581 CA3639204	309	G>S		No	ClinGen ExAC gnomAD
CA135033426 rs747341014	312	M>I		No	ClinGen Ensembl
rs1583923553 CA362859174	312	M>R		No	ClinGen Ensembl
CA362859184 rs1247456289	314	D>N		No	ClinGen gnomAD
rs1202648919 CA362859197	315	E>D		No	ClinGen gnomAD
rs768921799 COSM1634492 CA3639206	315	E>K	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs779181871 CA3639207	317	N>H		No	ClinGen ExAC gnomAD
CA3639208 rs748367168	317	N>S		No	ClinGen ExAC gnomAD
CA135033433 COSM1220310 rs1035523850	319	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA362859256 rs1583923873	324	M>I		No	ClinGen Ensembl
rs973634646 CA362859260	325	Q>*		No	ClinGen TOPMed gnomAD
rs973634646 CA135033438	325	Q>E		No	ClinGen TOPMed gnomAD
CA362859282 rs1583924026	328	E>G		No	ClinGen Ensembl
CA3639230 rs777111056	333	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3639229 rs771354905	333	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
RCV001264719 rs1770051610	334	V>F		No	ClinVar dbSNP
rs897549110 CA135039869	335	P>H		No	ClinGen Ensembl
rs1232127007 CA362860971	336	C>Y		No	ClinGen gnomAD
rs1254603888 CA362860981	337	S>Y		No	ClinGen gnomAD
CA3639232 rs768182628	347	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1267979162 CA362861053	348	G>D		No	ClinGen gnomAD
CA362861055 rs1267979162	348	G>V		No	ClinGen gnomAD
CA3639237 rs760530246	351	V>D		No	ClinGen ExAC gnomAD
rs767023623 CA3639235	351	V>F		No	ClinGen ExAC gnomAD
rs767023623 CA3639236	351	V>I		No	ClinGen ExAC gnomAD
TCGA novel	351	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1223119441 CA362861080	353	K>Q		No	ClinGen TOPMed
CA3639241 rs754826954	355	G>E		No	ClinGen ExAC gnomAD
rs754826954 CA3639240	355	G>V		No	ClinGen ExAC gnomAD
CA3639242 rs375774811	357	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1470795358 CA362861123	359	L>R		No	ClinGen gnomAD
CA135039891 rs780517348	360	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3639243 rs780517348	360	P>S		No	ClinGen ExAC TOPMed gnomAD
rs777965309 CA3639244	363	R>G		No	ClinGen ExAC
rs747291063 CA3639245	364	Q>E		No	ClinGen ExAC gnomAD
rs747291063 CA362861149	364	Q>K		No	ClinGen ExAC gnomAD
rs1385752027 CA362861159	365	V>A		No	ClinGen gnomAD
rs1385752027 CA362861158	365	V>E		No	ClinGen gnomAD
rs867197183 CA362861157	365	V>L		No	ClinGen gnomAD
rs867197183 CA135039902	365	V>M		No	ClinGen gnomAD
rs1017932118 CA135039904	367	T>A		No	ClinGen Ensembl
TCGA novel	368	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769607813 CA135039907	369	V>M		No	ClinGen Ensembl
CA3639247 rs781577937	370	I>M		No	ClinGen ExAC gnomAD
CA135039909 rs368118372	370	I>T		No	ClinGen ESP
CA3639248 rs746275251	373	D>E		No	ClinGen ExAC gnomAD
TCGA novel	374	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs574360086 CA3639249	374	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA3639251 rs747547720	379	V>M		No	ClinGen ExAC gnomAD
rs1463993131 CA362861256	380	P>S		No	ClinGen TOPMed
CA135039916 rs375258601	383	S>L		No	ClinGen ESP TOPMed gnomAD
CA362861283 rs1208139732	384	D>N		No	ClinGen gnomAD
CA135039919 rs555518385	386	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA362861309 rs1199880341	387	D>G		No	ClinGen TOPMed gnomAD
CA362861314 rs760440329	388	S>A		No	ClinGen ExAC gnomAD
CA3639254 rs760440329	388	S>P		No	ClinGen ExAC gnomAD
rs1020932186 CA135039922	392	Y>C		No	ClinGen gnomAD
rs1020932186 CA362861341	392	Y>F		No	ClinGen gnomAD
TCGA novel	396	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766157198 CA3639256	397	E>G		No	ClinGen ExAC TOPMed gnomAD
rs776514928 CA3639257	399	E>K		No	ClinGen ExAC gnomAD
rs765015756 CA3639259	403	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3639260 rs752745324	404	D>G		No	ClinGen ExAC gnomAD
CA3639262 rs764208808	405	D>N		No	ClinGen ExAC TOPMed gnomAD
rs562927111 CA3639264	406	D>N	Variant assessed as Somatic; 4.956e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA362861539 rs781418791	407	S>N		No	ClinGen ExAC gnomAD
CA135039936 rs923587856	407	S>R		No	ClinGen TOPMed
rs781418791 CA3639265	407	S>T		No	ClinGen ExAC gnomAD
CA362861565 rs1490566748	408	S>*		No	ClinGen gnomAD
CA362861567 rs1490566748	408	S>L		No	ClinGen gnomAD
CA362861581 rs759693137	409	L>F		No	ClinGen TOPMed gnomAD
rs1305036475 CA362861604	411	T>A		No	ClinGen TOPMed
rs1584080650 CA362861611	411	T>I		No	ClinGen Ensembl
rs1479510702 CA362861615	412	S>G		No	ClinGen gnomAD
CA362861877 rs1444643567	413	S>F		No	ClinGen gnomAD
CA3639283 rs767664042	413	S>T		No	ClinGen ExAC gnomAD
rs750727566 CA3639284	416	M>V		No	ClinGen ExAC TOPMed gnomAD
rs756423380 CA3639285	418	V>F		No	ClinGen ExAC TOPMed gnomAD
CA135040438 rs756423380	418	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1468591163 CA362861914	419	C>F		No	ClinGen TOPMed gnomAD
rs1468591163 CA362861912	419	C>Y		No	ClinGen TOPMed gnomAD
CA362861921 rs1434386952	420	R>K		No	ClinGen gnomAD
rs1050427978 CA135040443	427	K>R		No	ClinGen TOPMed gnomAD
CA362862040 rs1201543960	430	N>K		No	ClinGen gnomAD
CA362862110 rs1461758403	435	R>Q		No	ClinGen gnomAD
rs780692684 CA3639292	440	K>R		No	ClinGen ExAC gnomAD
CA135040450 rs889964713	443	L>I		No	ClinGen TOPMed gnomAD
rs1562034129 CA362862249	445	R>M		No	ClinGen Ensembl
CA135040452 rs146889071	445	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1179044057 CA362862295	449	E>K		No	ClinGen gnomAD
CA362862337 rs1316275022	451	R>Q		No	ClinGen gnomAD
rs370759003 CA3639295	451	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA362862385 rs1232556327	455	R>K		No	ClinGen TOPMed
TCGA novel	456	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1221452836 CA362862445	459	G>S		No	ClinGen gnomAD
CA3639297 rs768527515	460	T>I		No	ClinGen ExAC gnomAD
CA362862482 rs1324149386	461	K>R		No	ClinGen gnomAD
rs775859738	464	R>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs763375632 CA3639361	465	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs774901540 CA3639363	467	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1310659836 CA362761023	470	P>S		No	ClinGen gnomAD
CA362761031 rs1382078185	471	T>S		No	ClinGen gnomAD
rs868542853 CA134791558	477	Q>K		No	ClinGen Ensembl
CA3639365 rs768030733	483	P>S		No	ClinGen ExAC gnomAD
rs773706973 CA134792163	484	R>Q		No	ClinGen gnomAD
CA362761411 rs1244498072	484	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA362761414 rs1562114143	485	N>D		No	ClinGen Ensembl
CA3639387 rs372053028	490	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3639386 rs372053028	490	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	492	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA362761468 rs1405993300	492	E>K		No	ClinGen gnomAD
CA362761493 rs1338752405	495	E>A		No	ClinGen gnomAD
rs928678571 CA134792164	495	E>Q		No	ClinGen TOPMed
CA134792165 rs937328262	496	I>M		No	ClinGen TOPMed
CA362761517 rs970441347	498	R>S		No	ClinGen TOPMed
rs1359760599 CA362761521	499	R>K		No	ClinGen gnomAD
CA134792167 rs980926241	502	R>*		No	ClinGen Ensembl
rs759030690 CA3639389	502	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA362761567 rs1323298798	505	S>C		No	ClinGen TOPMed
CA362761570 rs1312155736	505	S>N		No	ClinGen TOPMed gnomAD
rs945304763 CA134792740	514	R>Q		No	ClinGen TOPMed
rs781724949 CA3639427 COSM1073385	514	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1027138709 CA134792741	521	R>H		No	ClinGen gnomAD
CA362761873 rs1397929790	526	V>M		No	ClinGen TOPMed
CA3639432 rs771886136	530	D>A		No	ClinGen ExAC gnomAD
CA362761983 rs1469186771	531	A>T		No	ClinGen TOPMed
CA362762085 rs1426985253	535	D>N		No	ClinGen TOPMed
CA3639434 rs760548192	536	R>C		No	ClinGen ExAC gnomAD
CA362762118 rs1178378727	536	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3639435 rs563759516	537	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1003322350 CA134792742	541	P>L		No	ClinGen TOPMed gnomAD
CA3639437 rs759508796	543	T>I		No	ClinGen ExAC gnomAD
CA362762264 rs1584459162	543	T>P		No	ClinGen Ensembl
rs765398120 COSM1073386 CA3639438	544	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1304744795 CA362762292	544	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs752803290 CA3639439	546	T>S		No	ClinGen ExAC TOPMed gnomAD
rs777983797 CA3639442	547	A>S		No	ClinGen ExAC TOPMed gnomAD
CA3639441 rs777983797	547	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1197879564 CA362762378	548	A>P		No	ClinGen TOPMed gnomAD
rs1197879564 CA362762382	548	A>T		No	ClinGen TOPMed gnomAD
CA362762399 rs1236318486	548	A>V		No	ClinGen gnomAD
CA362764386 rs1176915292	554	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs377313232 CA3639487	554	R>Q		No	ClinGen ESP ExAC gnomAD
rs1440601310 CA362764407	555	K>R		No	ClinGen gnomAD
rs756875169 CA3639489	562	S>I		No	ClinGen ExAC gnomAD
CA3639490 rs371212952 COSM3697505	563	T>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs751014962 CA3639509	578	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA134793153 rs940362485	579	R>*		No	ClinGen TOPMed gnomAD
rs867956571 CA134793154	579	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD

1 associated diseases with Q9C0D0

[MIM: 618298]: Developmental and epileptic encephalopathy 70 (DEE70)

A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE70 is an autosomal dominant form with onset in first months of life and variable severity. {ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:30256902}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE70 is an autosomal dominant form with onset in first months of life and variable severity. {ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:30256902}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q9C0D0

Type	Name	Position	InterPro Accession
domain	GPCR, rhodopsin-like, 7TM	58 - 425	IPR017452

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Synapse Nucleus	Enriched at synapses (By similarity) Cytoplasmic in resting cells, and is imported into the nucleus upon serum stimulation Interaction with actin prevents nuclear import (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

3 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
protein phosphatase 1 binding	Binding to a protein phosphatase 1.
protein phosphatase inhibitor activity	Binds to and stops, prevents or reduces the activity of a protein phosphatase, an enzyme that hydrolyzes phosphate groups from phosphorylated proteins.

8 GO annotations of biological process

Name	Definition
actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
actin cytoskeleton reorganization	A process that is carried out at the cellular level which results in dynamic structural changes to the arrangement of constituent parts of cytoskeletal structures comprising actin filaments and their associated proteins.
actomyosin structure organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. The myosin may be organized into filaments.
cell motility	Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another.
cerebral cortex development	The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon.
dendrite arborization	The process in which the anatomical structures of a dendritic tree are generated and organized into dendritic branches.
regulation of neuron migration	Any process that modulates the frequency, rate or extent of neuron migration.
stress fiber assembly	The aggregation, arrangement and bonding together of a set of components to form a stress fiber. A stress fiber is a contractile actin filament bundle that consists of short actin filaments with alternating polarity.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P33304	AFR1	Protein AFR1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q8IZ21	PHACTR4	Phosphatase and actin regulator 4	Homo sapiens (Human)	PR
Q2M3X8	Phactr1	Phosphatase and actin regulator 1	Mus musculus (Mouse)	PR
P62024	Phactr1	Phosphatase and actin regulator 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MDYPKMDYFL	DVESAHRLLD	VESAQRFFYS	QGAQARRATL	LLPPTLMAAS	SEDDIDRRPI
70	80	90	100	110	120
RRVRSKSDTP	YLAEARISFN	LGAAEEVERL	AAMRSDSLVP	GTHTPPIRRR	SKFANLGRIF
130	140	150	160	170	180
KPWKWRKKKS	EKFKHTSAAL	ERKISMRQSR	EELIKRGVLK	EIYDKDGELS	ISNEEDSLEN
190	200	210	220	230	240
GQSLSSSQLS	LPALSEMEPV	PMPRDPCSYE	VLQPSDIMDG	PDPGAPVKLP	CLPVKLSPPL
250	260	270	280	290	300
PPKKVMICMP	VGGPDLSLVS	YTAQKSGQQG	VAQHHHTVLP	SQIQHQLQYG	SHGQHLPSTT
310	320	330	340	350	360
GSLPMHPSGC	RMIDELNKTL	AMTMQRLESS	EQRVPCSTSY	HSSGLHSGDG	VTKAGPMGLP
370	380	390	400	410	420
EIRQVPTVVI	ECDDNKENVP	HESDYEDSSC	LYTREEEEEE	EDEDDDSSLY	TSSLAMKVCR
430	440	450	460	470	480
KDSLAIKLSN	RPSKRELEEK	NILPRQTDEE	RLELRQQIGT	KLTRRLSQRP	TAEELEQRNI
490	500	510	520	530	540
LKPRNEQEEQ	EEKREIKRRL	TRKLSQRPTV	EELRERKILI	RFSDYVEVAD	AQDYDRRADK
550	560	570
PWTRLTAADK	AAIRKELNEF	KSTEMEVHEL	SRHLTRFHRP