AiPD: Autoinhibited Protein Database

Q9Y2C4

Gene name	EXOG (ENDOGL1, ENDOGL2, ENGL)
Protein name	Nuclease EXOG, mitochondrial
Names	Endonuclease G-like 1, Endo G-like 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9941
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

13-178 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

13-178 (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

11 structures for Q9Y2C4

Entry ID	Method	Resolution	Chain	Position	Source
4A1N	X-ray	280 A	A	42-368	PDB
5T3V	X-ray	260 A	A/B	59-368	PDB
5T40	X-ray	181 A	A/B	59-368	PDB
5T4I	X-ray	239 A	A/B	59-368	PDB
5T5C	X-ray	185 A	A/B	59-368	PDB
5ZKI	X-ray	232 A	A/B	42-368	PDB
5ZKJ	X-ray	280 A	A/B	42-368	PDB
6IID	X-ray	299 A	A/B/C/D	42-368	PDB
7R6T	X-ray	290 A	C/D/L	58-368	PDB
7R6V	X-ray	216 A	D/E/G/I	58-368	PDB
AF-Q9Y2C4-F1	Predicted				AlphaFoldDB

313 variants for Q9Y2C4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA352135782 rs766723778	2	A>P		No	ClinGen ExAC TOPMed gnomAD
rs766723778 CA2319136	2	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2319139 rs767742733	3	I>S		No	ClinGen ExAC gnomAD
CA2319140 rs767742733	3	I>T		No	ClinGen ExAC gnomAD
rs916982789 CA72934915	3	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2319143 rs765146335	4	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel rs750383065 CA352135796	4	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
CA72934931 rs1025061181	4	K>R		No	ClinGen TOPMed
CA352135803 rs1262508909	5	S>R		No	ClinGen gnomAD
rs371857709 CA2319145	6	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs201317819 CA2319146	7	A>G		No	ClinGen ESP ExAC TOPMed
CA352135820 rs1262545431	8	S>F		No	ClinGen TOPMed gnomAD
rs1206767077 CA352135817	8	S>P		No	ClinGen TOPMed gnomAD
rs751348639 CA2319148	9	R>C		No	ClinGen ExAC gnomAD
rs751348639 CA2319149	9	R>G		No	ClinGen ExAC gnomAD
CA2319150 rs780830129	9	R>H		No	ClinGen ExAC gnomAD
CA2319152 rs371730440	10	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA352135828 rs1270360933	10	L>R		No	ClinGen TOPMed
rs1222043396 CA352135832	11	R>P		No	ClinGen TOPMed
rs778315577 CA2319153	11	R>W		No	ClinGen ExAC gnomAD
rs938305955 CA72934944	12	G>D		No	ClinGen Ensembl
CA352135835 rs1344802518	12	G>R		No	ClinGen TOPMed
CA2319154 rs142607341	13	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs989147841 CA72934950	14	R>C		No	ClinGen TOPMed gnomAD
rs989147841 CA352135845	14	R>G		No	ClinGen TOPMed gnomAD
CA352135847 rs1317734651	14	R>P		No	ClinGen TOPMed
rs989147841 CA352135844	14	R>S		No	ClinGen TOPMed gnomAD
rs140624245 CA72934957	15	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140624245 CA2319155	15	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352135849 rs1559668450	15	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs140624245 CA2319156	15	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1189997032 CA352135863	17	L>P		No	ClinGen gnomAD
CA352135861 rs1391072627	17	L>V		No	ClinGen TOPMed
CA2319158 rs759832007	18	S>R		No	ClinGen ExAC TOPMed gnomAD
rs368855859 CA352135872	19	G>R		No	ClinGen ESP TOPMed gnomAD
CA72934964 rs368855859	19	G>S		No	ClinGen ESP TOPMed gnomAD
CA352135882 rs200468418	20	F>L		No	ClinGen ExAC TOPMed gnomAD
rs138226578 CA2319159	20	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA352135886 rs1575599513	21	V>L		No	ClinGen Ensembl
rs760734069 CA2319161	22	A>S		No	ClinGen ExAC gnomAD
rs1241137686 CA352135894	22	A>V		No	ClinGen gnomAD
rs764205454 CA2319162	23	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1388687695 CA352135898	23	G>V		No	ClinGen gnomAD
CA72934978 rs138933023	24	A>T		No	ClinGen ESP TOPMed gnomAD
rs1450846128 CA352135904	24	A>V		No	ClinGen TOPMed
COSM1537967 CA2319165 rs766378816	25	V>A	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2319164 rs763005298	25	V>I		No	ClinGen ExAC
rs149413458 CA2319166 CA72934981	26	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1342069512 CA352135916	27	G>D		No	ClinGen TOPMed
CA352135924 rs1421214786	28	A>V		No	ClinGen gnomAD
CA352135930 rs1183224498	29	A>V		No	ClinGen gnomAD
CA352135942 rs1363711473	31	A>G		No	ClinGen gnomAD
rs754739929 CA2319168	32	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2319169 rs370106287	33	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1313168955 CA352135958	34	A>G		No	ClinGen TOPMed
rs1452204884 CA352135964	35	A>V		No	ClinGen TOPMed
CA2319170 rs752387567	36	L>P		No	ClinGen ExAC TOPMed gnomAD
CA352135972 rs1365282024	37	Q>P		No	ClinGen gnomAD
rs1392899983 CA352135986	39	F>L		No	ClinGen gnomAD
rs755617306 CA2319171	40	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777288999 CA352136000	41	S>N		No	ClinGen ExAC TOPMed gnomAD
rs777288999 CA2319172	41	S>T		No	ClinGen ExAC TOPMed gnomAD
CA352136004 rs1559668831	42	Q>K		No	ClinGen Ensembl
CA352136008 rs1351651239	42	Q>R		No	ClinGen TOPMed
CA352136015 rs748759280	43	G>D		No	ClinGen ExAC gnomAD
CA2319173 rs748759280	43	G>V		No	ClinGen ExAC gnomAD
rs779339742 CA2319175	47	A>S		No	ClinGen ExAC TOPMed gnomAD
rs779339742 CA72935002	47	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2319176 rs746276326	47	A>V		No	ClinGen ExAC gnomAD
rs1196743207 CA352136044	48	L>F		No	ClinGen TOPMed gnomAD
CA2319178 rs775615944	48	L>W		No	ClinGen ExAC gnomAD
CA352136050 rs373135233	49	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs373135233 CA2319179	49	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2319181 rs377680068	52	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA352136075 rs766432267	53	P>L		No	ClinGen ExAC gnomAD
rs766432267 CA2319183	53	P>Q		No	ClinGen ExAC gnomAD
CA2319185 rs759312453	54	D>A		No	ClinGen ExAC TOPMed gnomAD
rs751524406 CA352136077	54	D>N		No	ClinGen ExAC TOPMed gnomAD
rs759312453 CA352136080	54	D>V		No	ClinGen ExAC TOPMed gnomAD
CA2319184 rs751524406	54	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs767309530 CA2319186	55	G>*		No	ClinGen ExAC gnomAD
rs1284600920 CA352136290	56	S>F		No	ClinGen gnomAD
CA352136295 rs1575603506	57	A>S		No	ClinGen Ensembl
TCGA novel	58	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2319244 rs776317117	58	E>G		No	ClinGen ExAC gnomAD
CA72935593 rs140622584	58	E>K		No	ClinGen Ensembl
CA2319245 rs761478168	59	K>N		No	ClinGen ExAC gnomAD
rs764753657 CA2319246	60	A>P		No	ClinGen ExAC gnomAD
CA352136328 rs1189457031	60	A>V		No	ClinGen gnomAD
rs143230353 CA2319249	61	V>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA2319248 rs560667106	61	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA72935613 rs199775427	65	F>L		No	ClinGen Ensembl
CA352136375 rs1349344410	65	F>Y		No	ClinGen TOPMed
rs755433361 CA2319251	67	F>L		No	ClinGen ExAC gnomAD
rs1426820462 CA352136397	67	F>S		No	ClinGen TOPMed gnomAD
rs1345325526 CA352136420	69	L>F		No	ClinGen gnomAD
TCGA novel	70	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352136431 rs1434747971	71	G>R		No	ClinGen gnomAD
rs1281846602 CA352136439	71	G>V		No	ClinGen gnomAD
TCGA novel	72	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1374695700 CA352136473	75	R>K		No	ClinGen TOPMed gnomAD
CA2319253 rs546390344	76	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756411847 CA2319254	76	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs138059665 CA2319255	77	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA72935631 rs995294003	79	N>Y		No	ClinGen TOPMed
CA352136526 rs1456612831	80	H>D		No	ClinGen gnomAD
CA2319259 rs770911980	81	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2319258 rs770911980	81	A>T		No	ClinGen ExAC TOPMed gnomAD
CA352136542 rs1234330759	81	A>V		No	ClinGen gnomAD
TCGA novel	83	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352136573 rs746929875	84	Y>*		No	ClinGen ExAC gnomAD
rs566505876 CA2319261	85	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs566505876 CA352136581	85	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374345917 CA2319262	86	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs374345917 CA72935650	86	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA352136597 rs1446493827	87	A>T		No	ClinGen gnomAD
rs376947496 CA2319263	87	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2319265 rs371616022	89	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs182008971 CA2319266	89	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2319264 rs371616022 COSM730982	89	R>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1412818124 CA352136621	90	V>M		No	ClinGen TOPMed
CA2319268 rs200431618	93	W>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760141544 CA2319269	93	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1329868810 CA352136660	94	V>I		No	ClinGen gnomAD
rs368410145 CA2319270	95	L>F		No	ClinGen ESP ExAC gnomAD
TCGA novel	95	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352136694 rs1315392303	97	H>R		No	ClinGen TOPMed gnomAD
rs1247520617 CA352136691	97	H>Y		No	ClinGen TOPMed gnomAD
CA72935671 COSM730981 rs866211020	99	S>F	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA2319271 rs753128477	100	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1226205382 CA352136739	101	S>R		No	ClinGen gnomAD
rs756422989 CA2319272	104	M>K		No	ClinGen ExAC gnomAD
CA2319308 rs774135514	108	D>V		No	ClinGen ExAC gnomAD
CA352137249 rs1298985572	109	R>S		No	ClinGen TOPMed
CA72937840 rs1044836985	110	K>Q		No	ClinGen gnomAD
CA352137268 rs1244271354	111	H>Y		No	ClinGen TOPMed gnomAD
rs1249075021 CA352137285	112	C>Y		No	ClinGen TOPMed gnomAD
rs866655619 CA72937841	116	P>S		No	ClinGen TOPMed gnomAD
rs200655025 CA2319310	117	D>G		No	ClinGen ExAC TOPMed gnomAD
CA2319311 rs771677731	118	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2319312 rs776188991	122	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2319315 rs746023160	123	T>I		No	ClinGen ExAC gnomAD
rs746023160 CA72937849	123	T>N		No	ClinGen ExAC gnomAD
rs764626582 CA2319314	123	T>S		No	ClinGen ExAC gnomAD
rs202058731 TCGA novel CA2319316	125	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC gnomAD NCI-TCGA
CA2319317 rs765498225	126	A>G		No	ClinGen ExAC gnomAD
rs200753937 COSM3392376 CA2319318	128	N>S	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1171374442 CA352137484	131	Y>C		No	ClinGen TOPMed gnomAD
CA2319319 rs758510435	132	V>F		No	ClinGen ExAC TOPMed gnomAD
rs766423067 CA2319320	135	G>E		No	ClinGen ExAC gnomAD
COSM2986323 CA2319322 rs756034502	138	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs777698117 CA2319323	138	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1281281168 CA352137555	139	G>R		No	ClinGen TOPMed
rs1166874238 CA352137584	141	M>I		No	ClinGen gnomAD
rs1310818500 CA352137605	144	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	147	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	149	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM350865 rs955544107 CA72937861	150	S>*	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs955544107 CA352137672	150	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2319324 rs749096148	151	S>N		No	ClinGen ExAC
CA352131693 rs750207184	154	M>L		No	ClinGen ExAC gnomAD
rs750207184 CA2319347	154	M>V		No	ClinGen ExAC gnomAD
rs758132416 CA2319348	155	A>D		No	ClinGen ExAC gnomAD
rs758132416 CA2319349	155	A>G		No	ClinGen ExAC gnomAD
CA352131766 rs1409438450	157	T>A		No	ClinGen Ensembl
CA2319351 rs768205374	157	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1271972213 CA352131790	158	F>S		No	ClinGen gnomAD
rs1425781368 CA352131786	158	F>V		No	ClinGen gnomAD
rs1174063660 CA352131842	159	Y>*		No	ClinGen gnomAD
CA2319353 rs748628365	159	Y>F		No	ClinGen ExAC gnomAD
rs770236852 CA2319354	160	L>P		No	ClinGen ExAC gnomAD
CA2319355 rs369327477	162	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2319357 rs560692717	163	I>T		No	ClinGen ExAC gnomAD
CA2319356 rs763234816	163	I>V		No	ClinGen ExAC TOPMed gnomAD
CA352131959 rs1559678719	164	V>M		No	ClinGen Ensembl
rs774629674 CA2319358	165	P>R		No	ClinGen ExAC TOPMed gnomAD
rs138712791 CA2319359	175	W>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs113164971 CA72917100	176	N>S		No	ClinGen Ensembl
rs1290369952 CA352132673	178	I>K		No	ClinGen gnomAD
rs1470696418 CA352132655	178	I>L		No	ClinGen TOPMed
rs200057424 CA2319376	180	M>V		No	ClinGen ExAC gnomAD
rs201551336 CA2319377	181	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs532343012 CA2319380	182	C>F		No	ClinGen 1000Genomes ExAC gnomAD
CA2319378 rs771296937	182	C>G		No	ClinGen ExAC
CA2319379 rs532343012	182	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs758597013 CA72918055	183	R>*		No	ClinGen gnomAD
CA72918059 rs1050050130	183	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1433122064 CA352133828	190	E>K		No	ClinGen TOPMed
CA2319381 rs772146422	191	D>E		No	ClinGen ExAC gnomAD
CA2319382 rs775647946	192	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1215699412 CA352133903	193	W>S		No	ClinGen TOPMed
CA2319383 rs760783454	195	V>I		No	ClinGen ExAC gnomAD
CA72918066 rs545271948	197	G>R		No	ClinGen gnomAD
CA72918074 rs889305417	198	P>S		No	ClinGen TOPMed
COSM1537966 rs773281511 CA2319387	203	Q>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1401668022 CA352134125	204	T>A		No	ClinGen TOPMed gnomAD
rs942189583 CA72918079	205	R>T		No	ClinGen TOPMed
CA352134189 rs367875999	207	D>H		No	ClinGen ExAC TOPMed gnomAD
COSM1044223 CA72918081 rs367875999	207	D>N	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2319389 rs367875999	207	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA2319390 rs546115446	209	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352134270 rs1559682668	211	I>V		No	ClinGen Ensembl
CA352134296 rs1318520499	213	S>G		No	ClinGen TOPMed
rs771911750	213	S>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2319392 rs754690589	214	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA352136099 rs1575682317	216	V>G		No	ClinGen Ensembl
rs775217576 CA2319431	216	V>M		No	ClinGen ExAC gnomAD
CA2319434 rs753405481	219	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2319435 rs141793543	222	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376463901 CA2319436	223	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2319437 rs750867206	225	P>L		No	ClinGen ExAC gnomAD
CA352136154 rs1449088173	225	P>S		No	ClinGen gnomAD
rs1267643669 CA352136186	230	K>E		No	ClinGen gnomAD
rs965069728 CA72924909	231	V>E		No	ClinGen TOPMed
rs1237099969 CA542615515	232	I>*		No	ClinGen gnomAD
rs755253280 CA2319441	234	A>V		No	ClinGen ExAC gnomAD
CA2319442 rs781505556	235	R>C		No	ClinGen ExAC TOPMed gnomAD
rs748315238 CA2319443	235	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2319444 rs748315238	235	R>L		No	ClinGen ExAC TOPMed gnomAD
CA352136241 rs781505556	235	R>S		No	ClinGen ExAC TOPMed gnomAD
CA2319445 rs139945103	237	S>N		No	ClinGen ESP ExAC gnomAD
rs745816605 CA2319446	239	V>L		No	ClinGen ExAC gnomAD
rs1319815888 CA352136292	241	T>A		No	ClinGen gnomAD
rs1319815888 CA352136294	241	T>P		No	ClinGen gnomAD
rs1156354152 CA352136301	241	T>S		No	ClinGen gnomAD
COSM256883 rs368056983 CA2319448	242	E>K	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1270425603 CA352136333	243	P>L		No	ClinGen TOPMed
CA72924927 rs760406268	245	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1162359848 CA352136354	245	A>P		No	ClinGen gnomAD
CA2319449 rs760406268	245	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1437488810 CA352136374	246	L>P		No	ClinGen Ensembl
CA2319450 rs768357746	247	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1414769082 CA352136398	248	A>P		No	ClinGen TOPMed
CA2319451 rs776145416	248	A>V		No	ClinGen ExAC gnomAD
CA72924935 rs771208231	252	P>R		No	ClinGen gnomAD
CA2319452 rs761430825	252	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2319453 rs140085659 COSM2986330	253	N>S	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA352136560 rs1320422127	257	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1476246520 CA352136574	258	F>L		No	ClinGen TOPMed
rs1575682924 CA352136602	259	Q>P		No	ClinGen Ensembl
rs766922825 CA2319456	260	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2319457 rs751984250	261	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs751984250 CA352136638	261	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA352136640 rs751984250	261	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA72924961 rs748104607	262	L>*		No	ClinGen Ensembl
CA352136653 rs1575683012	262	L>V		No	ClinGen Ensembl
CA352136678 rs1486034583	263	T>S		No	ClinGen gnomAD
CA2319458 rs148926505	264	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352136783 rs200547739	268	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2319461 rs200547739	268	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA72924981 rs760168047	269	L>F		No	ClinGen Ensembl
rs1482447113 CA352136798	270	Q>R		No	ClinGen TOPMed
rs756312122 CA2319463	271	D>H		No	ClinGen ExAC gnomAD
CA72924988 rs1027842320	272	L>I		No	ClinGen gnomAD
rs1402987888 CA352136814	273	E>Q		No	ClinGen gnomAD
CA2319465 VAR_044320 rs1141223	277	G>V	abolishes catalytic activity [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA352136862 rs1306488810	280	F>C		No	ClinGen gnomAD
CA2319468 rs746874812	280	F>V		No	ClinGen ExAC gnomAD
CA352136883 rs1257449218	283	H>R		No	ClinGen gnomAD
CA2319470 rs768412763	285	D>G		No	ClinGen ExAC gnomAD
rs768412763 CA352136898 TCGA novel	285	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA ExAC gnomAD
CA352136901 rs1209574386	286	R>G		No	ClinGen gnomAD
rs1233204604 CA352136915	288	S>G		No	ClinGen TOPMed
CA2319471 rs186221013	290	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs117281323 CA2319473	291	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141204185 CA2319472	291	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs377188439 CA2319475	292	N>D		No	ClinGen ESP ExAC gnomAD
rs767049492 CA2319476	296	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774992455 CA2319477	298	T>A		No	ClinGen ExAC gnomAD
rs200166949 CA2319478	298	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2319479 rs767751233	299	C>G		No	ClinGen ExAC gnomAD
CA352136986 rs1373279118	299	C>Y		No	ClinGen gnomAD
rs1559703501 CA352136997	300	K>N		No	ClinGen Ensembl
CA352136995 rs1401147850	300	K>R		No	ClinGen gnomAD
rs1360293530 CA352137027	305	Q>*		No	ClinGen TOPMed gnomAD
CA352137028 rs1360293530	305	Q>E		No	ClinGen TOPMed gnomAD
rs1419860903 CA352137031	305	Q>R		No	ClinGen TOPMed
TCGA novel	306	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753978794 CA2319483	309	L>*		No	ClinGen ExAC gnomAD
CA2319484 rs757328029	316	I>S		No	ClinGen ExAC gnomAD
CA352137128 rs754865006	319	A>D		No	ClinGen ExAC gnomAD
CA2319487 rs754865006	319	A>G		No	ClinGen ExAC gnomAD
rs746931625 CA2319486	319	A>T		No	ClinGen ExAC gnomAD
rs575712682 COSM302160 CA2319488	320	R>*	central_nervous_system urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs570781004 CA352137132	320	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2319489 rs570781004 COSM3427551	320	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA72925041 rs915324349	321	S>L		No	ClinGen Ensembl
rs1171768593 CA352137180	328	I>F		No	ClinGen gnomAD
CA2319492 rs377143401	329	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1753191 rs1382241022 CA352137190	329	M>V	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA352137216 rs1158547811	330	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA72925048 rs551844651	331	N>D		No	ClinGen 1000Genomes
CA72925049 rs945456711	334	N>Y		No	ClinGen gnomAD
rs770533057 CA2319493	335	A>T		No	ClinGen ExAC gnomAD
CA2319494 rs146039478	336	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760151983 CA2319495	337	I>T		No	ClinGen ExAC gnomAD
CA2319496 rs768000987	339	P>L		No	ClinGen ExAC gnomAD
rs775732431 CA2319497	340	D>G		No	ClinGen ExAC TOPMed gnomAD
CA2319498 rs761089379	341	D>V		No	ClinGen ExAC gnomAD
CA2319499 rs764292229	344	M>V		No	ClinGen ExAC TOPMed gnomAD
rs146249751 CA2319500	346	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352137515 rs142372068	346	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2319501 rs142372068	346	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2319502 rs765327566	347	Y>C		No	ClinGen ExAC gnomAD
rs373624784 CA2319503	348	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	350	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139267817 CA2319505	351	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA72925054 rs756891934	353	E>D		No	ClinGen Ensembl
TCGA novel	353	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352137716 rs1240311024	358	E>K		No	ClinGen gnomAD
CA352137770 rs1440357312	365	R>S		No	ClinGen gnomAD
TCGA novel	367	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2319508 rs755931634	369	S>W		No	ClinGen ExAC gnomAD

No associated diseases with Q9Y2C4

6 regional properties for Q9Y2C4

Type	Name	Position	InterPro Accession
domain	SH3 domain	477 - 536	IPR001452
domain	PTB/PI domain	31 - 168	IPR006020
domain	Tensin/EPS8 phosphotyrosine-binding domain	35 - 164	IPR013625
domain	Epidermal growth factor receptor kinase substrate, phosphotyrosine-binding domain	32 - 162	IPR033928
domain	Eps8, SH3 domain	481 - 533	IPR035462
domain	SAM domain	619 - 680	IPR041418

Functions

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

4 GO annotations of cellular component

Name	Definition
mitochondrial inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
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.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

6 GO annotations of molecular function

Name	Definition
5'-3' exonuclease activity	Catalysis of the hydrolysis of ester linkages within nucleic acids by removing nucleotide residues from the 5' end.
endonuclease activity	Catalysis of the hydrolysis of ester linkages within nucleic acids by creating internal breaks.
endoribonuclease activity	Catalysis of the hydrolysis of ester linkages within ribonucleic acid by creating internal breaks.
metal ion binding	Binding to a metal ion.
nucleic acid binding	Binding to a nucleic acid.
single-stranded DNA endodeoxyribonuclease activity	Catalysis of the hydrolysis of ester linkages within a single-stranded deoxyribonucleic acid molecule by creating internal breaks.

1 GO annotations of biological process

Name	Definition
apoptotic DNA fragmentation	The cleavage of DNA during apoptosis, which usually occurs in two stages: cleavage into fragments of about 50 kbp followed by cleavage between nucleosomes to yield 200 bp fragments.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P08466	NUC1	Mitochondrial nuclease	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q8C163	Exog	Nuclease EXOG, mitochondrial	Mus musculus (Mouse)	PR
Q95NM6	cps-6	Endonuclease G, mitochondrial	Caenorhabditis elegans	PR

10	20	30	40	50	60
MAIKSIASRL	RGSRRFLSGF	VAGAVVGAAG	AGLAALQFFR	SQGAEGALTG	KQPDGSAEKA
70	80	90	100	110	120
VLEQFGFPLT	GTEARCYTNH	ALSYDQAKRV	PRWVLEHISK	SKIMGDADRK	HCKFKPDPNI
130	140	150	160	170	180
PPTFSAFNED	YVGSGWSRGH	MAPAGNNKFS	SKAMAETFYL	SNIVPQDFDN	NSGYWNRIEM
190	200	210	220	230	240
YCRELTERFE	DVWVVSGPLT	LPQTRGDGKK	IVSYQVIGED	NVAVPSHLYK	VILARRSSVS
250	260	270	280	290	300
TEPLALGAFV	VPNEAIGFQP	QLTEFQVSLQ	DLEKLSGLVF	FPHLDRTSDI	RNICSVDTCK
310	320	330	340	350	360
LLDFQEFTLY	LSTRKIEGAR	SVLRLEKIME	NLKNAEIEPD	DYFMSRYEKK	LEELKAKEQS

GTQIRKPS