AiPD: Autoinhibited Protein Database

Q86TL0

Gene name	ATG4D
Protein name	Cysteine protease ATG4D
Names	AUT-like 4 cysteine endopeptidase, Autophagy-related cysteine endopeptidase 4, Autophagin-4, Autophagy-related protein 4 homolog D, HsAPG4D
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84971
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-78 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-78 (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 Q86TL0

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q86TL0-F1	Predicted				AlphaFoldDB

426 variants for Q86TL0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA305213491 rs949140508	3	S>L		No	ClinGen Ensembl
rs1278163305 CA403981505	4	V>M		No	ClinGen TOPMed
CA305213500 rs914086695	5	S>*		No	ClinGen TOPMed gnomAD
CA305213507 rs1044841963	6	P>R		No	ClinGen Ensembl
CA403981660 rs1296757223	9	A>S		No	ClinGen TOPMed
CA305213516 rs945563025	12	R>Q		No	ClinGen TOPMed
rs1000543180 CA305213515	12	R>W		No	ClinGen TOPMed
CA403981728 rs1327275036	13	S>R		No	ClinGen TOPMed
CA403981762 rs1291289013	14	S>G		No	ClinGen TOPMed gnomAD
rs1399421370 CA403981814	16	P>L		No	ClinGen TOPMed
rs1166158839 CA403981947	20	R>H		No	ClinGen TOPMed
CA403981964 rs1373380157	22	R>W		No	ClinGen TOPMed
rs903984312 CA305213534	23	P>L		No	ClinGen TOPMed
rs1010435225 CA305213539	27	R>G		No	ClinGen Ensembl
rs1020438514 CA305213541	28	P>A		No	ClinGen TOPMed
rs1368019374 CA403982105	29	R>G		No	ClinGen TOPMed gnomAD
CA305213545 rs777309984	29	R>Q		No	ClinGen TOPMed gnomAD
CA403982108 rs1368019374	29	R>W		No	ClinGen TOPMed gnomAD
rs1432612642 CA403982203	33	G>S		No	ClinGen Ensembl
CA305213552 rs1029091177	34	P>L		No	ClinGen Ensembl
rs1213864280 CA403982310	36	P>L		No	ClinGen gnomAD
CA305213558 rs560566811	36	P>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA305213559 rs953548435	40	G>W		No	ClinGen Ensembl
rs1568413916 CA403982467	41	P>L		No	ClinGen Ensembl
CA305213567 rs909206130	43	G>R		No	ClinGen TOPMed gnomAD
rs370455769 CA9195980	44	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs370455769 CA403982523	44	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA403982581 rs1305232249	46	G>V		No	ClinGen TOPMed
CA9195981 rs774459373	47	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1205846717 CA403982620	48	A>G		No	ClinGen TOPMed gnomAD
CA9195982 rs759336419	49	L>F		No	ClinGen ExAC gnomAD
TCGA novel	49	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1451327661 CA403982634	50	G>S		No	ClinGen gnomAD
CA9195983 rs771776583	51	S>F		No	ClinGen ExAC TOPMed gnomAD
CA9195985 rs760759099	54	A>S		No	ClinGen ExAC gnomAD
rs1347805493 CA403982732	56	P>L		No	ClinGen gnomAD
CA9195986 rs763664989	56	P>T		No	ClinGen ExAC gnomAD
CA403982752 CA403982753 rs1416961261	57	S>R		No	ClinGen TOPMed gnomAD
CA403982765 rs1320717270	58	E>V		No	ClinGen gnomAD
rs1157840967 CA403982796	59	P>L		No	ClinGen TOPMed gnomAD
CA305213608 rs866182711	59	P>S		No	ClinGen Ensembl
CA305213621 rs995770572	61	E>*		No	ClinGen TOPMed
rs764938915 CA9195989	63	D>N		No	ClinGen ExAC gnomAD
CA403982957 rs1179776412	66	K>T		No	ClinGen TOPMed
CA305213632 rs750045185	68	K>R		No	ClinGen ExAC TOPMed gnomAD
CA9195990 rs750045185	68	K>T		No	ClinGen ExAC TOPMed gnomAD
CA305213638 rs866715966	69	F>L		No	ClinGen Ensembl
CA403983060 rs1251917911	70	L>Q		No	ClinGen TOPMed
CA403983069 rs1210585936	71	T>A		No	ClinGen TOPMed
CA9195991 rs755315348	71	T>R		No	ClinGen ExAC gnomAD
rs781472224 CA9195992	72	A>V		No	ClinGen ExAC TOPMed gnomAD
rs753246160 CA9195993	77	K>Q		No	ClinGen ExAC gnomAD
CA9196030 rs774026335	79	G>A		No	ClinGen ExAC TOPMed gnomAD
CA403983183 rs1206776676	79	G>C		No	ClinGen TOPMed gnomAD
rs1206776676 CA403983182	79	G>R		No	ClinGen TOPMed gnomAD
CA403983749 rs774026335	79	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1246798732 CA403983773	80	W>G		No	ClinGen gnomAD
CA9196031 rs572564941	85	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA305214001 rs970701156	85	R>W		No	ClinGen TOPMed gnomAD
CA305214017 rs905765071	86	T>S		No	ClinGen TOPMed
CA403983880 rs1450441649	86	T>S		No	ClinGen gnomAD
CA403983887 rs1170945116	87	S>G		No	ClinGen gnomAD
rs1599515098 CA403983911	88	F>Y		No	ClinGen Ensembl
COSM1197132 CA9196034 rs200278873	89	S>N	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA9196035 rs765336808	91	I>M		No	ClinGen ExAC TOPMed gnomAD
rs373491968 CA9196036	92	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1485313608 CA403983966	92	S>P		No	ClinGen TOPMed
CA305214036 rs747547210	93	S>R		No	ClinGen Ensembl
rs1486758976 CA403984108	98	G>V		No	ClinGen TOPMed
rs747243636 CA9196039	99	R>C		No	ClinGen ExAC gnomAD
CA9196040 rs754810805	99	R>H		No	ClinGen ExAC TOPMed gnomAD
CA403984142 rs1299625639	100	R>C		No	ClinGen TOPMed gnomAD
rs781203664 CA9196041	100	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1299625639 CA403984148	100	R>S		No	ClinGen TOPMed gnomAD
CA403984183 rs1289910643	101	Y>*		No	ClinGen gnomAD
CA9196042 rs748069415	101	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA403984202 COSM1183913 rs769671792	102	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA305214106 rs769671792	102	R>L		No	ClinGen ExAC TOPMed gnomAD
rs769671792 CA9196043	102	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9196044 rs138626074	105	G>D		No	ClinGen ESP ExAC gnomAD
rs138626074 CA403984278	105	G>V		No	ClinGen ESP ExAC gnomAD
CA305214165 rs913661198	107	G>C		No	ClinGen TOPMed
CA9196065 rs745495437	107	G>D		No	ClinGen ExAC gnomAD
CA403984969 rs1320606295	108	D>E		No	ClinGen TOPMed
rs367877282 CA9196067	110	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1347167708 CA403985042	111	R>C		No	ClinGen TOPMed gnomAD
CA403985039 rs1347167708	111	R>G		No	ClinGen TOPMed gnomAD
CA305214326 rs372027184	111	R>H		No	ClinGen ESP TOPMed
rs1458351034 CA403985142	114	R>P		No	ClinGen TOPMed
CA403985140 rs1458351034	114	R>Q		No	ClinGen TOPMed
rs993571339 CA305214334	117	V>A		No	ClinGen Ensembl
CA305214329 rs897949969	117	V>L		No	ClinGen TOPMed
rs1599515440 TCGA novel CA403985219	118	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen Ensembl
CA9196068 rs775152091	119	R>H		No	ClinGen ExAC TOPMed gnomAD
rs762013772 CA9196069	122	L>F		No	ClinGen ExAC TOPMed gnomAD
CA403985310 rs1568414551	123	T>I		No	ClinGen Ensembl
CA9196071 rs368730479	124	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1216040637 VAR_085353 CA403985351	125	R>L	found in patients with non-obstructive azoospermia; unknown pathological significance; decreased expression of MAP1LC3B; increased programmed cell death in spermatogenic cells [UniProt]	No	ClinGen UniProt TOPMed dbSNP
CA9196072 rs372877355	125	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1056994008 CA305214455	126	R>Q		No	ClinGen TOPMed gnomAD
rs1229753928 CA403985359	126	R>W		No	ClinGen gnomAD
CA9196073 rs766539191	127	D>G		No	ClinGen ExAC TOPMed gnomAD
CA9196074 rs200667601 CA9196076	128	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9196077 rs752968419	129	P>L		No	ClinGen ExAC TOPMed gnomAD
CA305214481 rs957946482	129	P>S		No	ClinGen TOPMed gnomAD
CA9196079 rs777683678	130	P>A		No	ClinGen ExAC TOPMed gnomAD
rs777683678 CA403985488	130	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	132	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1180191422 CA403985554	133	G>W		No	ClinGen gnomAD
CA9196081 rs753686617	134	G>C		No	ClinGen ExAC gnomAD
CA403985571 rs1452982181	134	G>D		No	ClinGen gnomAD
CA9196082 rs757232618	136	L>P		No	ClinGen ExAC gnomAD
CA9196083 rs778844610	137	T>I		No	ClinGen ExAC
rs1311872290 CA403985663	138	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA305214564 rs1041439993	140	C>Y		No	ClinGen TOPMed
rs1411125065 CA403985759	141	G>D		No	ClinGen gnomAD
CA403985764 rs1165905627	142	W>R		No	ClinGen TOPMed
CA9196087 rs746730944	144	C>G		No	ClinGen ExAC gnomAD
rs770046611 CA9196088	144	C>Y		No	ClinGen ExAC gnomAD
rs1204242101 CA403985837	145	M>V		No	ClinGen TOPMed gnomAD
CA9196089 rs773668883	147	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9196090 rs773668883	147	R>G		No	ClinGen ExAC TOPMed gnomAD
CA305214619 rs149332891	147	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9196091 rs149332891	147	R>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1458839660 CA403985975	149	G>A		No	ClinGen TOPMed gnomAD
CA9196093 rs759623863	153	L>P		No	ClinGen ExAC gnomAD
rs752851309 CA403986113	155	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs752851309 CA9196095	155	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA403986132 rs1379346787	156	G>D		No	ClinGen gnomAD
rs761026166 CA9196096	157	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1172857644 CA403986212	159	L>R		No	ClinGen gnomAD
CA403986231 rs1478033641	160	H>L		No	ClinGen TOPMed gnomAD
rs1304937052 CA403986298	163	P>R		No	ClinGen TOPMed
COSM243102 rs765090945 CA9196100	163	P>S	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9196122 rs553074453	165	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA9196123 rs189653514	167	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs189653514 CA403987396	167	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757684533 CA9196126 COSM710182	170	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9196128 rs746348145	171	G>D		No	ClinGen ExAC gnomAD
CA403987464 rs1424041681	172	M>K		No	ClinGen gnomAD
rs772580138 CA9196129	172	M>L		No	ClinGen ExAC
rs1424041681 CA403987466	172	M>T		No	ClinGen gnomAD
CA403987475 rs775891566	173	G>R		No	ClinGen ExAC TOPMed gnomAD
rs775891566 CA9196130	173	G>S		No	ClinGen ExAC TOPMed gnomAD
rs747044151 CA9196132	175	G>V		No	ClinGen ExAC
CA9196134 rs776817919	176	P>H		No	ClinGen ExAC TOPMed gnomAD
COSM3403724 CA305216291 rs776817919	176	P>L	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs142336391 CA9196133	176	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142336391 CA305216284	176	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776471163	177	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs377349256 CA9196137	177	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs924762101 CA305216342	179	L>P		No	ClinGen TOPMed gnomAD
CA9196138 rs11556837	181	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9196140 rs751460183	182	S>P		No	ClinGen ExAC
rs146320757 CA9196142	184	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9196145 rs777590069	187	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755873095 CA9196144	187	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9196148 rs780551939	189	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1568415486 CA403987707	190	G>E		No	ClinGen Ensembl
rs1225622716 CA403987727	191	P>L		No	ClinGen TOPMed
rs144189121 CA9196150	191	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs781286935 COSM564817 CA9196151	193	R>C	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9196152 rs781286935	193	R>G		No	ClinGen ExAC TOPMed gnomAD
rs376928245 CA9196153	193	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9196154 rs376928245	193	R>L		No	ClinGen ExAC TOPMed gnomAD
CA403987751 rs781286935	193	R>S		No	ClinGen ExAC TOPMed gnomAD
CA9196155 rs762746593	195	M>I		No	ClinGen ExAC gnomAD
rs997409640 CA305216418	195	M>V		No	ClinGen TOPMed
TCGA novel	196	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403987814 rs1388251955	196	P>T		No	ClinGen TOPMed
CA403987832 rs1425510674	197	P>A		No	ClinGen gnomAD
TCGA novel	197	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9196156 rs770650161	198	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9196157 rs565133715	198	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA305216444 rs370651826	199	W>*		No	ClinGen ESP
CA9196158 rs759459453	200	A>V		No	ClinGen ExAC gnomAD
rs1366477748 CA403987942	202	G>D		No	ClinGen TOPMed
CA403987966 rs1447805378	204	P>S		No	ClinGen TOPMed
COSM417772 CA9196163 rs763771284	205	E>K	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA9196164 rs753557474	207	E>Q		No	ClinGen ExAC gnomAD
rs758776289 CA9196165	208	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA9196166 rs371300714	210	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA403988078 rs371300714	210	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9196167 rs577041430	210	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9196169 rs541334711	211	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9196170 rs200629359	211	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA9196168 rs541334711	211	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403988116 rs777918388	212	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs374239855 CA9196174	213	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs749531227 CA9196173	213	R>W		No	ClinGen ExAC TOPMed gnomAD
CA403988211 rs79769971	217	S>F		No	ClinGen gnomAD
rs79769971 CA305216544	217	S>Y		No	ClinGen gnomAD
CA305216556 rs972057000	220	A>P		No	ClinGen TOPMed gnomAD
CA403988267 rs972057000	220	A>T		No	ClinGen TOPMed gnomAD
CA9196175 rs774056462	220	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1297503466 CA403988326	221	D>E		No	ClinGen gnomAD
rs1352858778 CA403988293	221	D>N		No	ClinGen gnomAD
rs772092676 CA9196177	221	D>V		No	ClinGen ExAC gnomAD
CA403988341 rs1368297596	222	H>D		No	ClinGen gnomAD
CA403988372 rs1301001094	223	P>L		No	ClinGen TOPMed gnomAD
CA403988394 rs1228728435	224	R>Q		No	ClinGen gnomAD
CA9196178 rs199992356	224	R>W	Variant assessed as Somatic; 5.782e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA403988404 rs1307579735	225	A>T		No	ClinGen TOPMed
CA403988420 rs1435544602	225	A>V		No	ClinGen gnomAD
rs760204929 CA9196180	226	P>A		No	ClinGen ExAC gnomAD
rs974035822 CA305216604	226	P>R		No	ClinGen gnomAD
rs368697131 CA9196183	231	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA403988530 rs776338785	231	R>W		No	ClinGen ExAC TOPMed gnomAD
rs200959472 CA9196185	233	V>A		No	ClinGen ExAC gnomAD
rs200959472 CA9196184	233	V>G		No	ClinGen ExAC gnomAD
rs548268362 CA305216626	233	V>L		No	ClinGen 1000Genomes
rs755403338 CA9196186	234	E>G		No	ClinGen ExAC gnomAD
rs1323601525 CA403988609	236	G>E		No	ClinGen gnomAD
rs767948632 CA9196187	236	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	237	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9196188 rs753220064	237	Q>R		No	ClinGen ExAC gnomAD
rs756176538 CA9196189	238	S>G		No	ClinGen ExAC gnomAD
CA305216654 rs990258643	239	S>A		No	ClinGen TOPMed
rs1251568721 CA403988673	240	G>A		No	ClinGen TOPMed
TCGA novel	240	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9196190 rs777895948	246	W>*		No	ClinGen ExAC gnomAD
rs1231835007 CA403988800	246	W>R		No	ClinGen gnomAD
CA9196191 rs146552285	250	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs146552285 CA403988925	250	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1465601817 CA403989015	254	H>D		No	ClinGen TOPMed gnomAD
CA403989020 rs1465601817	254	H>Y		No	ClinGen TOPMed gnomAD
rs1399943085 CA403989238	259	A>V		No	ClinGen gnomAD
CA9196209 rs757360354	260	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs11556838 CA305216847	262	S>G		No	ClinGen Ensembl
CA305216864 rs1037530364	264	S>A		No	ClinGen TOPMed
CA9196211 rs371193255	265	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs149863781 CA9196213	266	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9196214 rs746916681	267	T>I		No	ClinGen ExAC TOPMed gnomAD
rs768662171 CA9196215	268	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9196216 rs199919816	268	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9196217 rs199919816	268	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA403989462 rs1484847624	270	V>L		No	ClinGen gnomAD
CA403989479 rs1210181581	271	V>M		No	ClinGen gnomAD
CA305216934 rs769363951	272	Y>*		No	ClinGen ExAC TOPMed gnomAD
VAR_085354 CA9196219 rs145807760	273	V>I	found in patients with non-obstructive azoospermia; unknown pathological significance [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA305216970 rs1025077296	276	D>N		No	ClinGen TOPMed
CA403989590 rs1183874326	277	C>S		No	ClinGen gnomAD
CA9196220 rs375489909	279	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375489909 CA9196221	279	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs148969864 CA9196244	280	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9196247 rs750481099	282	A>E		No	ClinGen ExAC TOPMed gnomAD
rs765209616 CA9196245 COSM1325529	282	A>T	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs750481099 CA9196246	282	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9196249 rs371400175	286	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9196250 rs754716617	286	R>H		No	ClinGen ExAC TOPMed gnomAD
CA403990568 rs1214266049	290	R>S		No	ClinGen gnomAD
CA9196251 rs781108253	293	P>L		No	ClinGen ExAC gnomAD
rs1261979779 VAR_085355 CA403990645	295	A>D	found in patients with non-obstructive azoospermia; unknown pathological significance [UniProt]	No	ClinGen UniProt dbSNP gnomAD
CA403990640 rs1192848024	295	A>T		No	ClinGen gnomAD
rs752546576 CA9196252 COSM1563973	296	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA403990679 rs1449796115	297	W>C		No	ClinGen gnomAD
rs1332454584 CA403990694	298	K>N		No	ClinGen TOPMed
rs777713528 CA9196254	301	V>A		No	ClinGen ExAC gnomAD
rs756130278 CA9196253	301	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9196256 rs756766683	306	V>M		No	ClinGen ExAC TOPMed gnomAD
rs948731877 CA305220355	307	R>*		No	ClinGen TOPMed gnomAD
CA403990837 rs778521770	307	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9196257 rs778521770	307	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs369166683 CA9196258	311	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1179118967 CA403990935	313	L>P		No	ClinGen TOPMed
rs768867857 CA9196259	315	P>H		No	ClinGen ExAC
rs748483612 CA403990980	316	V>L		No	ClinGen ExAC gnomAD
rs748483612 COSM270896 CA9196261	316	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs770295075 CA9196263	317	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA403991001 rs1274971802	317	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA305220373 rs770148830	318	V>M		No	ClinGen Ensembl
CA9196264 rs763066711	320	C>G		No	ClinGen ExAC TOPMed gnomAD
rs763066711 CA403991055	320	C>R		No	ClinGen ExAC TOPMed gnomAD
rs763066711 CA403991052	320	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1203032329 CA403991090	321	V>A		No	ClinGen gnomAD
rs774712128 CA9196266	321	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9196267 rs759842805	322	K>E		No	ClinGen ExAC gnomAD
rs759842805 CA403991095	322	K>Q		No	ClinGen ExAC gnomAD
CA403991098 rs1202367729	322	K>R		No	ClinGen TOPMed
rs1375666298 CA403991974	324	L>F		No	ClinGen gnomAD
CA9196284 rs771104951	326	R>C		No	ClinGen ExAC gnomAD
rs774622329 CA305222421	326	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774622329 CA9196285	326	R>L		No	ClinGen ExAC TOPMed gnomAD
rs774622329 CA9196286	326	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM710180 CA403992006 rs1298672547	327	C>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA9196288 rs767742734	327	C>W		No	ClinGen ExAC TOPMed gnomAD
CA9196289 rs760463896	328	E>*		No	ClinGen ExAC gnomAD
CA9196290 rs760463896	328	E>K		No	ClinGen ExAC gnomAD
TCGA novel	329	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403992049 rs1599524155	329	L>V		No	ClinGen Ensembl
rs982180488 CA305222450	332	G>S		No	ClinGen Ensembl
CA9196292 rs757230666	333	I>V		No	ClinGen ExAC gnomAD
rs765178370 CA305222453	334	M>L		No	ClinGen ExAC TOPMed gnomAD
CA9196293 rs765178370	334	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1342864514 CA403992160	335	G>S		No	ClinGen TOPMed
rs200408437 CA9196294	336	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA305222461 rs967214983	338	P>L		No	ClinGen TOPMed gnomAD
rs967214983 CA403992221	338	P>R		No	ClinGen TOPMed gnomAD
CA9196296 COSM4140213 rs142082988	339	R>*	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs751227053 CA403992237	339	R>P		No	ClinGen ExAC TOPMed gnomAD
rs751227053 CA9196297 COSM1183914	339	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs756544787 CA9196298	340	H>Q		No	ClinGen ExAC gnomAD
rs771520070 CA403992368	346	G>C		No	ClinGen ExAC gnomAD
rs771520070 CA9196301	346	G>S		No	ClinGen ExAC gnomAD
rs1411719517 CA403992391	347	Y>C		No	ClinGen TOPMed
rs1351137590 CA403992879	350	D>E		No	ClinGen TOPMed
rs1217527662 CA403992922	353	L>P		No	ClinGen gnomAD
rs1289649383 CA403992953	356	D>N		No	ClinGen TOPMed gnomAD
CA403992972 rs1447748355	356	D>V		No	ClinGen gnomAD
rs1240619853 CA403993014	358	H>R		No	ClinGen TOPMed gnomAD
rs964300302 CA305222660	360	C>Y		No	ClinGen TOPMed
rs1405400789 CA403993105	363	T>P		No	ClinGen TOPMed
CA9196335 rs768822162	365	D>E		No	ClinGen ExAC gnomAD
CA403993138 rs1159903386	365	D>V		No	ClinGen TOPMed
rs747111031 CA9196334	365	D>Y		No	ClinGen ExAC gnomAD
CA9196337 rs761538562	369	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	370	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA403993216 rs1401127662	370	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1319849497 CA403993245	371	F>L		No	ClinGen gnomAD
rs1343142413 CA403993248	371	F>Y		No	ClinGen gnomAD
rs1398783058 CA403993294	372	P>L		No	ClinGen gnomAD
rs141346756 CA9196340 COSM1390148	374	E>D	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1438904683 CA403993461	377	H>L		No	ClinGen TOPMed gnomAD
CA403993458 rs1438904683	377	H>R		No	ClinGen TOPMed gnomAD
rs750709640 CA9196367	377	H>Y		No	ClinGen ExAC gnomAD
rs758790754 CA9196368	379	T>I		No	ClinGen ExAC TOPMed gnomAD
rs766736761 CA9196369	380	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA9196371 rs755043990	381	P>R		No	ClinGen ExAC TOPMed gnomAD
CA9196372 COSM1390149 rs150808873	382	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs371466606 CA9196373 COSM268721	382	R>H	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA9196374 rs756243375	384	M>T		No	ClinGen ExAC gnomAD
rs1376601891 CA403993611	385	A>T		No	ClinGen gnomAD
CA403993617 rs1360325923	385	A>V		No	ClinGen TOPMed
CA305222898 rs138092907	387	A>V		No	ClinGen ESP TOPMed gnomAD
rs1369132219 CA403993692	388	K>N		No	ClinGen gnomAD
CA9196377 rs770777634	389	M>T		No	ClinGen ExAC gnomAD
CA9196376 rs748970122	389	M>V		No	ClinGen ExAC gnomAD
rs1220208321 CA403993765	391	P>R		No	ClinGen TOPMed gnomAD
TCGA novel	394	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201291151 CA403993879	395	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1390150 CA9196379 VAR_085356 rs201291151	395	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine found in patients with non-obstructive azoospermia; unknown pathological significance [NCI-TCGA, Cosmic, UniProt]	No	ClinGen cosmic curated UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
TCGA novel	399	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1599525102 CA403993966	400	G>R		No	ClinGen Ensembl
TCGA novel	401	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1194091119 CA403993985	401	D>N		No	ClinGen TOPMed gnomAD
CA403993998 rs1194091119	401	D>Y		No	ClinGen TOPMed gnomAD
CA9196382 rs760259667	402	R>G		No	ClinGen ExAC gnomAD
rs1197501240 CA403994036	402	R>T		No	ClinGen gnomAD
rs146007239 CA9196383	403	K>E		No	ClinGen ESP ExAC gnomAD
CA9196384 rs776358793	403	K>R		No	ClinGen ExAC gnomAD
rs766795163 CA9196386	405	F>S		No	ClinGen ExAC gnomAD
CA403994174 rs1489471655	407	T>I		No	ClinGen gnomAD
rs768036629 CA9196389	409	C>S		No	ClinGen ExAC gnomAD
rs1453550103 CA403994305	413	T>N		No	ClinGen TOPMed
TCGA novel	415	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1237473702 CA403995825	415	V>L		No	ClinGen gnomAD
rs114134252 CA9196418	416	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9196419 rs780125800	416	L>R		No	ClinGen ExAC gnomAD
CA403995875 rs1211687642	417	S>R		No	ClinGen gnomAD
CA305223501 rs369731970	419	S>F		No	ClinGen ESP TOPMed
rs369731970 CA403995940	419	S>Y		No	ClinGen ESP TOPMed
rs144333266 CA9196424	421	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1436648963 CA403996025	423	E>G		No	ClinGen gnomAD
CA9196429 rs373529527	424	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9196428 rs373529527	424	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9196427 rs769398498	424	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs144231049 CA9196430	425	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9196432 rs761287717	427	M>T		No	ClinGen ExAC gnomAD
rs775861000 CA9196431	427	M>V		No	ClinGen ExAC gnomAD
CA403996161 rs1220386164	429	T>A		No	ClinGen gnomAD
rs1328591123 CA403996176	429	T>I		No	ClinGen TOPMed
CA403996158 rs1220386164	429	T>P		No	ClinGen gnomAD
rs761986044 CA403996211	431	A>D		No	ClinGen ExAC TOPMed gnomAD
rs761986044 CA9196436	431	A>G		No	ClinGen ExAC TOPMed gnomAD
CA9196439 rs202100167	432	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs148727589 CA9196440	432	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA403996233 rs202100167	432	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs376428796 CA9196438 COSM710179	432	E>K	lung urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA403996326 rs1171050216	436	Q>*		No	ClinGen gnomAD
rs370156682 CA9196441	437	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA403996379 rs1330428490	439	S>C		No	ClinGen gnomAD
CA403996380 rs1330428490	439	S>G		No	ClinGen gnomAD
CA305223558 rs1038898926	439	S>N		No	ClinGen TOPMed gnomAD
CA403996411 rs1599526549	440	L>P		No	ClinGen Ensembl
CA403996404 rs1399689841	440	L>V		No	ClinGen TOPMed
TCGA novel	441	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9196444 rs750880857	442	D>E		No	ClinGen ExAC gnomAD
CA9196443 rs781023858	442	D>N		No	ClinGen ExAC gnomAD
CA9196446 rs777392794	447	L>P		No	ClinGen ExAC gnomAD
rs775975025 CA9196450	448	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9196449 rs775975025	448	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1417127120 CA403996690	448	A>V		No	ClinGen TOPMed
CA9196451 rs769137127	449	Q>*		No	ClinGen ExAC gnomAD
CA9196452 rs777015372	450	P>L		No	ClinGen ExAC gnomAD
CA403996792 rs1421446685	450	P>S		No	ClinGen gnomAD
rs1173796315 CA403996829	451	T>I		No	ClinGen TOPMed gnomAD
rs761967675 CA9196453	452	L>F		No	ClinGen ExAC gnomAD
CA403996875 rs773535048	453	R>P		No	ClinGen ExAC TOPMed gnomAD
rs773535048 CA9196455	453	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM438491 CA9196454 rs765478983	453	R>W	Variant assessed as Somatic; 0.0 impact. urinary_tract breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs766532088 CA305223646	456	R>C		No	ClinGen ExAC gnomAD
rs766532088 CA9196457	456	R>S		No	ClinGen ExAC gnomAD
rs1321172179 CA403997012	458	G>E		No	ClinGen gnomAD
rs767433937 CA9196460	459	R>Q		No	ClinGen ExAC gnomAD
rs754734757 CA9196459	459	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9196461 rs752690803	461	L>F		No	ClinGen ExAC gnomAD
CA403997078 rs1218593535	462	R>G		No	ClinGen gnomAD
CA305223673 rs903965322	462	R>K		No	ClinGen Ensembl
rs1047539484 CA305223674	463	A>T		No	ClinGen TOPMed
CA305223676 rs999597871	463	A>V		No	ClinGen Ensembl
CA403997118 rs1361176601	464	K>*		No	ClinGen Ensembl
CA403997130 rs1294495207	464	K>R		No	ClinGen gnomAD
CA9196462 rs755619900	465	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9196464 rs559424087	465	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA9196463 rs559424087	465	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA403997142 rs755619900	465	R>S		No	ClinGen ExAC TOPMed gnomAD
rs756889457 CA9196465	466	P>S		No	ClinGen ExAC TOPMed gnomAD
rs778430562 CA9196466	468	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1261151996 CA403997203	470	D>G		No	ClinGen gnomAD
TCGA novel	470	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778658625 CA305223713	471	F>L		No	ClinGen TOPMed gnomAD
CA9196468 rs747336560	471	F>S		No	ClinGen ExAC
CA305223723 rs886178499	473	F>Y		No	ClinGen TOPMed
rs1473648940 CA403997261	474	L>S		No	ClinGen gnomAD
rs891147335 CA305223734	475	L>Q		No	ClinGen Ensembl
rs1238048134 CA632113818	475	L>Y		No	ClinGen gnomAD

No associated diseases with Q86TL0

1 regional properties for Q86TL0

Type	Name	Position	InterPro Accession
domain	Peptidase C54, catalytic domain	110 - 410	IPR046792

Functions

		Description
EC Number
Subcellular Localization	[Cysteine protease ATG4D]: Cytoplasm ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
mitochondrial matrix	The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.
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.

1 GO annotations of molecular function

Name	Definition
cysteine-type peptidase activity	Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile.

7 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
autophagy	The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation.
mitophagy	The selective autophagy process in which a mitochondrion is degraded by macroautophagy.
protein delipidation	The breakage of covalent bonds to detach lipid groups from a protein.
protein localization to phagophore assembly site	Any process in which a protein is transported to, or maintained at, the phagophore assembly site (PAS).
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MNSVSPAAAQ	YRSSSPEDAR	RRPEARRPRG	PRGPDPNGLG	PSGASGPALG	SPGAGPSEPD
70	80	90	100	110	120
EVDKFKAKFL	TAWNNVKYGW	VVKSRTSFSK	ISSIHLCGRR	YRFEGEGDIQ	RFQRDFVSRL
130	140	150	160	170	180
WLTYRRDFPP	LPGGCLTSDC	GWGCMLRSGQ	MMLAQGLLLH	FLPRDWTWAE	GMGLGPPELS
190	200	210	220	230	240
GSASPSRYHG	PARWMPPRWA	QGAPELEQER	RHRQIVSWFA	DHPRAPFGLH	RLVELGQSSG
250	260	270	280	290	300
KKAGDWYGPS	LVAHILRKAV	ESCSDVTRLV	VYVSQDCTVY	KADVARLVAR	PDPTAEWKSV
310	320	330	340	350	360
VILVPVRLGG	ETLNPVYVPC	VKELLRCELC	LGIMGGKPRH	SLYFIGYQDD	FLLYLDPHYC
370	380	390	400	410	420
QPTVDVSQAD	FPLESFHCTS	PRKMAFAKMD	PSCTVGFYAG	DRKEFETLCS	ELTRVLSSSS
430	440	450	460	470
ATERYPMFTL	AEGHAQDHSL	DDLCSQLAQP	TLRLPRTGRL	LRAKRPSSED	FVFL