AiPD: Autoinhibited Protein Database

Q9UBZ4

Gene name	APEX2 (APE2, APEXL2, XTH2)
Protein name	DNA-(apurinic or apyrimidinic site) endonuclease 2
Names	AP endonuclease XTH2, APEX nuclease 2, APEX nuclease-like 2, Apurinic-apyrimidinic endonuclease 2, AP endonuclease 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:27301
EC number	3.1.11.2: Exodeoxyribonucleases producing 5'-phosphomonoesters
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

312-484 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

312-484 (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

1 structures for Q9UBZ4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UBZ4-F1	Predicted				AlphaFoldDB

318 variants for Q9UBZ4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA10427953 rs760389136	2	L>M		No	ClinGen ExAC gnomAD
rs867038858 CA328963087	3	R>C		No	ClinGen Ensembl
rs1312285758 CA413280467	3	R>H		No	ClinGen gnomAD
rs1203155309 CA413280477	4	V>L		No	ClinGen gnomAD
TCGA novel	9	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10427954 rs763762928	9	I>V		No	ClinGen ExAC gnomAD
rs753400276 CA10427955	10	N>S		No	ClinGen ExAC gnomAD
COSM1682652 CA328963089 rs11541055	11	G>E	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated Ensembl
CA413280640 rs1477893574	13	R>Q		No	ClinGen gnomAD
TCGA novel	13	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA328963094 rs940700336	14	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA10427957 rs138420763	17	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA10427958 rs752060931	19	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1205291224 CA413280709	19	V>M		No	ClinGen TOPMed
rs1261015050 CA413280730	20	A>T		No	ClinGen TOPMed
rs1421562121 CA413280757	21	N>S		No	ClinGen gnomAD
rs755351199 CA10427959	25	S>I		No	ClinGen ExAC
rs1205372679 CA413280865	28	A>T		No	ClinGen TOPMed
rs781610550 CA10427960	28	A>V		No	ClinGen ExAC gnomAD
CA413280878 rs1324032555	29	A>S		No	ClinGen TOPMed
rs748389498 CA10427961	30	V>L		No	ClinGen ExAC TOPMed gnomAD
rs748389498 CA413280885	30	V>M		No	ClinGen ExAC TOPMed gnomAD
CA328963132 rs3180303	31	A>D		No	ClinGen gnomAD
rs3180303 CA413280906	31	A>G		No	ClinGen gnomAD
rs370230204 CA413281014	37	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1319379411 CA413281051	40	D>N		No	ClinGen gnomAD
CA328963159 rs750368585	43	I>M		No	ClinGen 1000Genomes gnomAD
rs935798554 CA328963165	46	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	50	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413281271 rs1162087258	51	V>G		No	ClinGen gnomAD
CA10427967 rs745795021	51	V>M		No	ClinGen ExAC gnomAD
CA328963179 rs3180304	52	T>N		No	ClinGen Ensembl
rs756423511 CA10427983	53	R>K		No	ClinGen ExAC gnomAD
CA10427984 CA413281420 rs778002388	54	D>E		No	ClinGen ExAC gnomAD
CA10427985 rs749481226	57	T>I		No	ClinGen ExAC gnomAD
rs757329327 CA10427986	59	P>L		No	ClinGen ExAC gnomAD
TCGA novel	62	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772049110 CA10427989	63	V>A		No	ClinGen ExAC TOPMed gnomAD
CA10427988 COSM1123583 rs745857862	63	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA10427990 rs775230915	66	Y>C		No	ClinGen ExAC gnomAD
CA413281704 rs746820180	71	S>R		No	ClinGen ExAC gnomAD
rs750440342 CA10427992	73	S>T		No	ClinGen 1000Genomes ExAC
CA10427993 rs141646629	74	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs374939146 CA10427994	74	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA413281783 rs1365019824	75	N>K		No	ClinGen TOPMed
rs1301444460 CA413281786	76	R>C		No	ClinGen TOPMed
CA10427995 rs367957732	77	S>N		No	ClinGen ESP ExAC gnomAD
rs1336750874 CA413281974	83	A>G		No	ClinGen TOPMed gnomAD
rs1446521138 CA413282008	85	F>L		No	ClinGen TOPMed gnomAD
CA413282021 rs1169487877	86	C>S		No	ClinGen gnomAD
CA10428010 rs781133793	88	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	88	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747835151 CA10428011	89	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	90	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769503215 CA10428012	92	P>L		No	ClinGen ExAC gnomAD
rs772693542 CA413282131	93	V>L		No	ClinGen ExAC TOPMed gnomAD
rs772693542 CA10428013	93	V>M		No	ClinGen ExAC TOPMed gnomAD
rs762558524 CA10428014	95	A>G		No	ClinGen ExAC gnomAD
CA413282175 rs1391486911	96	E>A		No	ClinGen TOPMed
CA328963794 rs202158104	97	E>D		No	ClinGen 1000Genomes
CA413282210 rs1220954839	98	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1263694799 CA413282213	99	L>M		No	ClinGen gnomAD
rs1168775041 CA413282290	103	F>L		No	ClinGen TOPMed
rs1020209385 CA328963795	109	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA413282446 rs1196673465	115	N>I		No	ClinGen gnomAD
CA10428015 rs770317145	116	M>I		No	ClinGen ExAC gnomAD
rs147247224 CA10428016	118	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10428019 rs754204508	125	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10428018 rs764508954	125	R>W		No	ClinGen ExAC TOPMed gnomAD
rs762024105 CA10428020	126	A>S		No	ClinGen ExAC TOPMed gnomAD
CA413282764 rs1465621133	134	L>H		No	ClinGen gnomAD
rs1401483442 CA413282762	134	L>V		No	ClinGen TOPMed gnomAD
rs1329868656 CA413282769	135	L>F		No	ClinGen TOPMed gnomAD
CA413282828 rs1392279424	139	K>E		No	ClinGen gnomAD
CA328963819 rs953155693	139	K>N		No	ClinGen TOPMed gnomAD
TCGA novel	139	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000882420 rs2301416 CA10428022 VAR_023390 VAR_048261	141	R>C		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2301416 CA10428023	141	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2301416 VAR_048261	141	R>W		No	UniProt dbSNP
rs765484804 CA10428039	142	T>I		No	ClinGen ExAC
CA10428038 rs762266391	142	T>P		No	ClinGen ExAC
rs147394629 CA328964153	145	G>V		No	ClinGen ESP TOPMed gnomAD
rs1209318695 CA413283127	149	T>I		No	ClinGen TOPMed gnomAD
CA413283157 rs1259065494	151	T>I		No	ClinGen TOPMed gnomAD
CA328964165 rs766645591	155	V>L		No	ClinGen ExAC gnomAD
CA10428043 rs766645591	155	V>M		No	ClinGen ExAC gnomAD
TCGA novel	160	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs75862529 CA10428044	160	A>V		No	ClinGen ExAC TOPMed gnomAD
CA413283312 rs1569547628	161	D>H		No	ClinGen Ensembl
rs781313257 CA10428046	162	P>T		No	ClinGen ExAC gnomAD
CA413283400 rs1569547629	165	P>S		No	ClinGen Ensembl
COSM1123589 CA328964176 rs918902403	166	E>K	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs755988566 CA10428048	167	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA413283556 rs1261799976	172	M>I		No	ClinGen gnomAD
rs749036434 COSM1491129 CA10428050	173	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs746358977 CA10428051	173	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA328964185 rs760626997	175	Y>C		No	ClinGen gnomAD
CA10428052 rs778478658	176	R>C		No	ClinGen ExAC TOPMed gnomAD
CA413283624 rs778478658	176	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10428053 rs745403855	176	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10428054 rs371229749	177	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA413283791 rs1417949294	182	A>V		No	ClinGen gnomAD
CA413283815 rs1300174047	183	E>G		No	ClinGen gnomAD
CA10428055 rs777232963	184	A>S		No	ClinGen ExAC gnomAD
rs777232963 CA413283827	184	A>T		No	ClinGen ExAC gnomAD
rs866601451 CA328964220	187	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10428059 rs763356429	188	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10428060 rs766733469	189	G>D		No	ClinGen ExAC gnomAD
TCGA novel	191	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	196	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377706613 CA328964746	198	L>V		No	ClinGen ESP TOPMed gnomAD
CA10428075 rs773724034	203	R>C		No	ClinGen ExAC TOPMed gnomAD
rs749704346 CA10428076	203	R>H		No	ClinGen ExAC TOPMed gnomAD
CA328964781 rs990121519	204	P>S		No	ClinGen TOPMed gnomAD
rs192992600 CA413285308	205	I>F		No	ClinGen 1000Genomes ExAC gnomAD
rs774765301 CA10428078	205	I>T		No	ClinGen ExAC gnomAD
CA10428077 rs192992600	205	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs759821255 CA10428079	208	W>R		No	ClinGen ExAC gnomAD
TCGA novel	209	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1366510628 CA413285446	212	N>D		No	ClinGen TOPMed
rs1419352271 CA413285679	216	F>L		No	ClinGen TOPMed
rs187479006 CA10428094 COSM1123590	222	R>C	endometrium central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1316477575 CA413285775	222	R>H		No	ClinGen gnomAD
rs1488317267 CA413285841	228	L>M		No	ClinGen gnomAD
rs746169749 CA10428097	230	S>I		No	ClinGen ExAC gnomAD
CA413285920 rs1208089586	234	C>Y		No	ClinGen TOPMed
CA10428098 rs772195864	235	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA413285936 rs1262606020	236	S>C		No	ClinGen TOPMed
CA328965993 rs912285894	238	S>F		No	ClinGen Ensembl
CA10428099 rs775731944	239	H>P		No	ClinGen ExAC TOPMed gnomAD
rs145295903 CA10428101	239	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA413285957 rs1170961927	240	V>I		No	ClinGen gnomAD
CA413285961 rs1349082006	241	G>R		No	ClinGen TOPMed gnomAD
CA413285968 rs1456099225	242	P>A		No	ClinGen gnomAD
rs761722822 CA413285987	244	I>M		No	ClinGen ExAC gnomAD
rs1381088686 CA413285982	244	I>V		No	ClinGen TOPMed
rs1398805966 CA413285990	245	D>H		No	ClinGen gnomAD
rs765080268 CA10428104	246	S>C		No	ClinGen ExAC TOPMed gnomAD
CA413286014 rs1360419561	248	R>H		No	ClinGen gnomAD
CA413286066 rs1274198592	255	E>G		No	ClinGen TOPMed gnomAD
CA328966017 rs931544803	256	G>R		No	ClinGen Ensembl
rs750220870 CA10428105	264	V>I		No	ClinGen ExAC gnomAD
rs765983392 CA10428107	267	A>T		No	ClinGen ExAC TOPMed gnomAD
CA413286149 rs1490536467	268	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs868705455 CA328966028 COSM1468746	268	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA413286154 rs1476387664	269	H>P		No	ClinGen TOPMed gnomAD
VAR_064033 rs145122391 CA10428108	269	H>Y	identified in a patient with mtDNA maintenance disorders [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs149134407 CA10428109	271	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10428110 rs780742079	272	Y>D		No	ClinGen ExAC gnomAD
rs1393968930 CA413286224	275	R>Q		No	ClinGen gnomAD
TCGA novel	277	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	278	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142257625 CA10428112	279	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1014801737 CA328966049	282	D>G		No	ClinGen Ensembl
CA10428113 rs779505607	283	R>G		No	ClinGen ExAC gnomAD
CA10428114 rs746256403	284	T>N		No	ClinGen ExAC gnomAD
CA10428116 rs780178393	289	T>A		No	ClinGen ExAC gnomAD
rs1433560496 CA413286379	289	T>I		No	ClinGen gnomAD
CA413286402 rs1482971696	292	A>V		No	ClinGen TOPMed
TCGA novel	297	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1213363044 CA413286431	297	P>R		No	ClinGen TOPMed
TCGA novel	297	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768673726 CA10428118	298	E>G		No	ClinGen ExAC gnomAD
rs1569547668 CA413286441	299	V>L		No	ClinGen Ensembl
rs1317449113 CA413286456	301	G>R		No	ClinGen TOPMed gnomAD
rs1317449113 CA413286455	301	G>S		No	ClinGen TOPMed gnomAD
CA10428119 rs151248821	309	A>T		No	ClinGen ESP ExAC gnomAD
rs1602239926 CA413286530	312	S>N		No	ClinGen Ensembl
CA413286555 rs1569547672	316	V>L		No	ClinGen Ensembl
rs1185139451 CA413286569	318	A>G		No	ClinGen gnomAD
rs1471689386 CA413286567	318	A>S		No	ClinGen gnomAD
rs762700417 CA10428123	321	C>R		No	ClinGen ExAC gnomAD
CA10428124 rs766177333	321	C>W		No	ClinGen ExAC TOPMed
CA10428125 rs751229326	322	P>L		No	ClinGen ExAC TOPMed gnomAD
rs751229326 CA413286596	322	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA10428126 rs759222098	323	P>L		No	ClinGen ExAC gnomAD
TCGA novel	326	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10428127 rs138407648	327	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10428128 rs746072761	327	R>H		No	ClinGen ExAC gnomAD
CA328966119 rs746072761	327	R>L		No	ClinGen ExAC gnomAD
rs866159745 CA413286664	333	A>G		No	ClinGen gnomAD
rs765874169 CA10428130	333	A>T		No	ClinGen ExAC gnomAD
rs866159745 CA328966122	333	A>V		No	ClinGen gnomAD
CA413286679 rs1602239991	336	Q>K		No	ClinGen Ensembl
rs1318218097 CA413286698	338	K>N		No	ClinGen TOPMed gnomAD
rs1030853138 CA328966135	339	I>V		No	ClinGen TOPMed gnomAD
rs1277951290 CA413286707	340	L>V		No	ClinGen gnomAD
CA328966152 rs748117513	341	R>C		No	ClinGen gnomAD
COSM1123593 rs370340664 CA10428132	341	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA413286714 rs370340664	341	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA413286723 rs1569547674	343	L>I		No	ClinGen Ensembl
rs1374661061 CA413286728	344	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1374661061 CA413286730	344	V>I		No	ClinGen TOPMed
rs1255580097 CA413286738	345	P>L		No	ClinGen TOPMed
CA413286749 rs1251399551	347	E>G		No	ClinGen TOPMed
COSM1123594 rs374701476 CA10428135	347	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA10428137 rs773005433	350	P>L		No	ClinGen ExAC gnomAD
CA413286777 rs1470213839	351	V>A		No	ClinGen gnomAD
rs769836236 CA10428138	351	V>M		No	ClinGen ExAC gnomAD
rs780845944 CA10428139	353	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs770699384 CA10428141	355	S>L		No	ClinGen ExAC gnomAD
rs1019325980 CA328966216	356	T>A		No	ClinGen Ensembl
TCGA novel	356	T>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201174369 CA10428143	360	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767301035 CA10428144	361	N>S		No	ClinGen ExAC TOPMed gnomAD
CA328966263 rs749152001	364	R>Q		No	ClinGen TOPMed gnomAD
CA10428146 rs199802672	364	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10428148 rs750947056	365	V>L		No	ClinGen ExAC gnomAD
TCGA novel	366	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1263639603 CA413286883	368	C>R		No	ClinGen TOPMed gnomAD
rs1193803288 CA413286918	372	A>G		No	ClinGen gnomAD
CA10428150 rs376594966	375	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs138924876 CA10428151	375	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA413286945 rs1244521788	377	T>A		No	ClinGen gnomAD
CA10428152 rs149437335	377	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA413286956 rs1398443678	379	P>T		No	ClinGen TOPMed
CA413286971 rs1298678913	381	P>S		No	ClinGen TOPMed
rs781435197 CA10428153	383	Q>H		No	ClinGen ExAC gnomAD
rs748352347 CA10428154	384	V>A		No	ClinGen ExAC gnomAD
rs1460896437 CA413286998	385	G>C		No	ClinGen TOPMed
rs1465443515 CA413287011	387	S>N		No	ClinGen gnomAD
rs1166574802 CA413287025	389	G>S		No	ClinGen gnomAD
rs201964062 VAR_064034 CA10428156	392	N>H	identified in a patient with mtDNA maintenance disorders [UniProt]	No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA413287071 rs1323086308	395	S>R		No	ClinGen gnomAD
rs770916710 CA10428158	397	F>L		No	ClinGen ExAC gnomAD
rs774108069 CA10428159	398	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs745705060 CA10428160	399	P>L		No	ClinGen ExAC gnomAD
rs923368990 CA328966318	400	S>P		No	ClinGen TOPMed
rs923368990 CA413287100	400	S>T		No	ClinGen TOPMed
CA10428162 rs775330371	404	P>A		No	ClinGen ExAC gnomAD
rs760389146 CA10428163	405	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	407	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs908757974 CA328966362	407	S>Y		No	ClinGen Ensembl
TCGA novel	408	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	410	I>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	410	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1179995954 CA413287165	410	I>V		No	ClinGen TOPMed
CA328966383 rs938832323	412	L>R		No	ClinGen Ensembl
rs766929098 CA10428167	413	P>H		No	ClinGen ExAC gnomAD
CA10428168 rs143848599	418	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10428170 rs767858928	420	A>T		No	ClinGen ExAC TOPMed gnomAD
rs752987294 CA10428171	420	A>V		No	ClinGen ExAC gnomAD
rs777799996 CA10428173	422	M>T		No	ClinGen ExAC gnomAD
CA10428172 rs200104735	422	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1275636468 CA413287249	423	T>I		No	ClinGen TOPMed
rs753975587 CA10428174	424	P>L		No	ClinGen ExAC TOPMed gnomAD
CA413287254 rs753975587	424	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs753975587 CA10428175	424	P>R		No	ClinGen ExAC TOPMed gnomAD
rs745776851 CA10428177	430	K>R		No	ClinGen ExAC
rs1278576149 CA413287326	431	A>T		No	ClinGen TOPMed
CA10428178 rs772049539	431	A>V		No	ClinGen ExAC gnomAD
rs1297580080 CA413287344	432	V>A		No	ClinGen gnomAD
CA413287368 rs1441869419	434	K>T		No	ClinGen gnomAD
CA10428180 rs202081643	437	K>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1312484945 CA413287485	440	A>G		No	ClinGen gnomAD
CA328966548 rs1052312625	441	K>E		No	ClinGen gnomAD
rs1602240264 CA413287507	442	T>P		No	ClinGen Ensembl
CA413287537 rs1439927085	444	E>Q		No	ClinGen TOPMed
CA413287555 rs1223862072	445	A>G		No	ClinGen TOPMed gnomAD
CA413287550 rs1484594603	445	A>T		No	ClinGen gnomAD
rs1327855830 CA413287562	446	K>*		No	ClinGen TOPMed
CA10428181 rs768433739	446	K>N		No	ClinGen ExAC TOPMed gnomAD
CA413287607 rs1264391381	449	K>R		No	ClinGen gnomAD
COSM1558578 CA10428184 rs761429037	452	R>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs761429037 CA10428183	452	R>Q		No	ClinGen ExAC gnomAD
rs147390902 CA10428182 COSM1123597	452	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs774985074 CA10428185	454	S>L		No	ClinGen ExAC gnomAD
CA413287671 rs1471307643	456	W>R		No	ClinGen TOPMed
rs1364621000 CA413287719	458	S>C		No	ClinGen TOPMed
rs760036212 CA10428186	459	V>M		No	ClinGen ExAC gnomAD
rs767946540 CA10428187	460	L>Q		No	ClinGen ExAC gnomAD
rs1193351446 CA413287783	462	G>V		No	ClinGen TOPMed
CA413287789 rs1290569650	463	P>S		No	ClinGen TOPMed gnomAD
CA413287790 rs1290569650	463	P>T		No	ClinGen TOPMed gnomAD
CA10428191 COSM1123598 rs764409927	465	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA10428192 rs374342631 COSM1715030	465	R>H	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA10428194 rs778845228	468	L>R		No	ClinGen ExAC gnomAD
CA413287920 rs1202132544	470	G>E		No	ClinGen gnomAD
CA10428195 CA413287918 rs139641675	470	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1240489736 CA413287924	471	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	472	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	474	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413288004 rs1602240395	475	P>T		No	ClinGen Ensembl
rs780074500 CA10428197	476	C>R		No	ClinGen ExAC gnomAD
CA10428200 CA10428199 rs768293422	478	M>I		No	ClinGen ExAC gnomAD
rs1241733240 CA413288087	479	R>C		No	ClinGen gnomAD
rs1462893244 CA413288091	479	R>H		No	ClinGen TOPMed gnomAD
rs1184478460 CA413288156	483	K>E		No	ClinGen gnomAD
CA10428201 rs747745298	484	P>A		No	ClinGen ExAC gnomAD
CA413288196 rs1417419292	485	G>R		No	ClinGen gnomAD
rs769417244 CA10428202	486	P>L		No	ClinGen ExAC gnomAD
rs960271669 CA328966726	487	N>S		No	ClinGen TOPMed
CA10428204 rs762393472	488	L>M		No	ClinGen ExAC TOPMed gnomAD
CA413288252 rs762393472	488	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	489	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772590597 CA10428205	490	R>C		No	ClinGen ExAC TOPMed gnomAD
rs775937817 CA10428206 COSM1123599	490	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs145264172 CA10428208	491	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs145264172 CA413288293	491	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1392767826 CA413288300	491	R>H		No	ClinGen TOPMed gnomAD
rs1173263995 CA413288356	494	M>K		No	ClinGen TOPMed
CA10428209 rs776967568	494	M>V		No	ClinGen ExAC gnomAD
rs765430315 CA10428211	498	P>S		No	ClinGen ExAC gnomAD
CA10428213 rs758500844	499	R>P		No	ClinGen ExAC TOPMed gnomAD
CA413288448 rs758500844	499	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM3800684 rs1204649207 CA413288445	499	R>W	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs751523918 CA10428215	500	G>C		No	ClinGen ExAC gnomAD
CA10428216 rs372255249	502	P>A		No	ClinGen ESP ExAC gnomAD
CA413288496 rs372255249	502	P>S		No	ClinGen ESP ExAC gnomAD
rs1480123345 CA413288514	503	T>P		No	ClinGen gnomAD
rs1569547694 CA413288583	506	S>F		No	ClinGen Ensembl
TCGA novel	507	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA328966798 rs948894054	508	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA413288607 rs1431275706	508	R>W		No	ClinGen gnomAD
rs200234086 CA10428219	516	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA413288816 rs1344352561	517	P>R		No	ClinGen gnomAD
rs777356430 CA10428220	518	S>G		No	ClinGen ExAC gnomAD
TCGA novel	519	S>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q9UBZ4

No regional properties for Q9UBZ4

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9UBZ4

Functions

		Description
EC Number	3.1.11.2	Exodeoxyribonucleases producing 5'-phosphomonoesters
Subcellular Localization	Nucleus Cytoplasm Mitochondrion	Together with PCNA, is redistributed in discrete nuclear foci in presence of oxidative DNA damaging agents
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
fibrillar center	A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

6 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA-(apurinic or apyrimidinic site) endonuclease activity	Catalysis of the cleavage of the C-O-P bond in the AP site created when DNA glycosylase removes a damaged base, involved in the DNA base excision repair pathway (BER).
double-stranded DNA 3'-5' exodeoxyribonuclease activity	Catalysis of the sequential cleavage of mononucleotides from a free 3' terminus of a double-stranded DNA molecule.
endonuclease activity	Catalysis of the hydrolysis of ester linkages within nucleic acids by creating internal breaks.
phosphoric diester hydrolase activity	Catalysis of the hydrolysis of a phosphodiester to give a phosphomonoester and a free hydroxyl group.
zinc ion binding	Binding to a zinc ion (Zn).

3 GO annotations of biological process

Name	Definition
base-excision repair	In base excision repair, an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase.
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
DNA recombination	Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5E9N9	APEX2	DNA-(apurinic or apyrimidinic site) endonuclease 2	Bos taurus (Bovine)	PR
Q68G58	Apex2	DNA-(apurinic or apyrimidinic site) endonuclease 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MLRVVSWNIN	GIRRPLQGVA	NQEPSNCAAV	AVGRILDELD	ADIVCLQETK	VTRDALTEPL
70	80	90	100	110	120
AIVEGYNSYF	SFSRNRSGYS	GVATFCKDNA	TPVAAEEGLS	GLFATQNGDV	GCYGNMDEFT
130	140	150	160	170	180
QEELRALDSE	GRALLTQHKI	RTWEGKEKTL	TLINVYCPHA	DPGRPERLVF	KMRFYRLLQI
190	200	210	220	230	240
RAEALLAAGS	HVIILGDLNT	AHRPIDHWDA	VNLECFEEDP	GRKWMDSLLS	NLGCQSASHV
250	260	270	280	290	300
GPFIDSYRCF	QPKQEGAFTC	WSAVTGARHL	NYGSRLDYVL	GDRTLVIDTF	QASFLLPEVM
310	320	330	340	350	360
GSDHCPVGAV	LSVSSVPAKQ	CPPLCTRFLP	EFAGTQLKIL	RFLVPLEQSP	VLEQSTLQHN
370	380	390	400	410	420
NQTRVQTCQN	KAQVRSTRPQ	PSQVGSSRGQ	KNLKSYFQPS	PSCPQASPDI	ELPSLPLMSA
430	440	450	460	470	480
LMTPKTPEEK	AVAKVVKGQA	KTSEAKDEKE	LRTSFWKSVL	AGPLRTPLCG	GHREPCVMRT
490	500	510
VKKPGPNLGR	RFYMCARPRG	PPTDPSSRCN	FFLWSRPS