AiPD: Autoinhibited Protein Database

Q96LL4

Gene name	C8orf48
Protein name	Uncharacterized protein C8orf48
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:157773
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

8-90 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

8-90 (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 Q96LL4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96LL4-F1	Predicted				AlphaFoldDB

368 variants for Q96LL4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA370383194 rs1366382896	3	I>V		No	ClinGen gnomAD
rs1299893475 CA370383217	4	C>*		No	ClinGen gnomAD
CA370383213 rs1386649819	4	C>Y		No	ClinGen TOPMed gnomAD
rs1351490270 CA370383229	5	P>L		No	ClinGen TOPMed
CA370383219 rs1309931441	5	P>S		No	ClinGen gnomAD
rs1327993152 CA370383235	6	E>A		No	ClinGen gnomAD
rs772729057 CA4639620	6	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1249598030 CA370383257	8	A>T		No	ClinGen gnomAD
rs1307854055 CA370383271	9	Q>*		No	ClinGen TOPMed gnomAD
CA4639621 rs532978997	9	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370383283 rs537888309	10	T>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA172508206 rs537888309	10	T>M		No	ClinGen 1000Genomes TOPMed gnomAD
CA172508205 rs537888309	10	T>R		No	ClinGen 1000Genomes TOPMed gnomAD
rs1434957582 CA370383293	11	D>A		No	ClinGen gnomAD
rs1265229038 CA370383286	11	D>N		No	ClinGen gnomAD
rs1434957582 CA370383291	11	D>V		No	ClinGen gnomAD
CA370383289 rs1265229038	11	D>Y		No	ClinGen gnomAD
CA172508207 rs183770365	12	K>Q		No	ClinGen 1000Genomes gnomAD
rs1563445272 CA370383304	12	K>R		No	ClinGen Ensembl
rs1411365682 CA370383323	14	A>D		No	ClinGen TOPMed gnomAD
rs751163792 CA4639623	16	A>G		No	ClinGen ExAC gnomAD
rs751163792 CA370383335	16	A>V		No	ClinGen ExAC gnomAD
CA172508208 rs905173837	17	N>D		No	ClinGen Ensembl
CA370383346 rs1346144753	18	L>F		No	ClinGen gnomAD
CA370383345 rs1346144753	18	L>V		No	ClinGen gnomAD
rs577627190 CA370383356	20	D>H		No	ClinGen 1000Genomes TOPMed gnomAD
rs577627190 CA172508209	20	D>N		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	21	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1217622577 CA370383368	21	E>G		No	ClinGen TOPMed
CA4639624 rs201250059	22	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs553896592 CA4639625	23	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA370383377 rs1387885452	23	E>Q		No	ClinGen gnomAD
CA370383385 rs1349346912	24	T>A		No	ClinGen TOPMed gnomAD
CA370383387 rs1226170351	24	T>S		No	ClinGen gnomAD
CA370383397 rs1269697569	26	K>E		No	ClinGen gnomAD
TCGA novel	27	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA172508210 rs13273355	28	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_063134 rs13273355 CA4639626	28	S>F		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA370383415 rs13273355	28	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1263477036 CA370383417	29	T>A		No	ClinGen gnomAD
CA370383420 rs1489398843	29	T>S		No	ClinGen gnomAD
CA370383430 rs1200067932	31	E>K		No	ClinGen gnomAD
rs573686073 CA172508213	34	T>S		No	ClinGen 1000Genomes
CA4639628 rs188494481	34	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1409043275 CA370383460	35	S>C		No	ClinGen gnomAD
CA172508214 rs1017919591	36	S>R		No	ClinGen Ensembl
rs757281084 CA4639630	36	S>T		No	ClinGen ExAC TOPMed gnomAD
rs562740146 CA4639631	39	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370383499 rs1237621197	41	S>F		No	ClinGen TOPMed gnomAD
CA172508217 rs920170626	42	G>A		No	ClinGen Ensembl
rs749094023 CA4639633	44	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA370383518 rs1289806601	45	Q>*		No	ClinGen gnomAD
CA370383517 rs1289806601	45	Q>E		No	ClinGen gnomAD
CA370383520 rs1373546425	45	Q>R		No	ClinGen gnomAD
CA370383528 rs191812233	46	S>C		No	ClinGen 1000Genomes TOPMed gnomAD
CA172508218 rs191812233	46	S>F		No	ClinGen 1000Genomes TOPMed gnomAD
CA370383541 rs1212541945	49	L>M		No	ClinGen TOPMed
CA370383551 rs1585282312	50	T>I		No	ClinGen Ensembl
rs949471852 CA172508220	51	S>C		No	ClinGen Ensembl
rs1045157915 CA172508222	54	K>Q		No	ClinGen TOPMed
rs1180345956 CA370383581	55	L>P		No	ClinGen TOPMed gnomAD
rs769191641 CA4639638	55	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1388912974 CA370383588	56	E>D		No	ClinGen gnomAD
CA370383583 rs1445686028	56	E>Q		No	ClinGen gnomAD
CA370383587 rs1168470619	56	E>V		No	ClinGen gnomAD
rs1280020331 CA370383592	57	R>K		No	ClinGen TOPMed
TCGA novel	57	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1400337935 CA370383601	58	E>G		No	ClinGen TOPMed
CA370383610 rs1378196640	59	K>M		No	ClinGen TOPMed
CA370383618 rs1330264220	60	Q>R		No	ClinGen gnomAD
CA370383622 rs1354615899	61	T>S		No	ClinGen TOPMed gnomAD
rs1446758852 CA370383628	62	P>A		No	ClinGen TOPMed gnomAD
CA370383632 rs1359227709	62	P>L		No	ClinGen TOPMed
CA370383627 rs1446758852	62	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA172508224 rs936664250	63	S>G		No	ClinGen TOPMed
rs776972388 CA4639639	63	S>T		No	ClinGen ExAC gnomAD
CA370383644 rs1246494419	64	L>F		No	ClinGen gnomAD
CA172508225 rs1054380187	65	E>Q		No	ClinGen Ensembl
rs1296756210 CA370383657	66	Q>R		No	ClinGen gnomAD
CA370383664 rs1426331057	67	G>E		No	ClinGen TOPMed
CA370383673 rs1172057656	68	D>E		No	ClinGen TOPMed
rs1339919056 CA370383680	69	T>I		No	ClinGen TOPMed gnomAD
CA370383687 CA370383688 rs762446238	70	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA370383693 rs1273725177	71	S>C		No	ClinGen TOPMed gnomAD
rs1273725177 CA370383692	71	S>Y		No	ClinGen TOPMed gnomAD
rs1441933626 CA370383701	72	E>D		No	ClinGen gnomAD
rs754815517 CA172508226	73	L>I		No	ClinGen TOPMed
rs374090541 CA172508229	75	D>E		No	ClinGen TOPMed gnomAD
CA370383717 rs1320853637	75	D>G		No	ClinGen TOPMed
rs1030766389 CA172508228	75	D>N		No	ClinGen TOPMed gnomAD
rs1030766389 CA370383716	75	D>Y		No	ClinGen TOPMed gnomAD
CA4639641 rs147132901	76	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147132901 CA370383725	76	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370383729 rs1451804186	77	K>E		No	ClinGen gnomAD
rs1169011433 CA370383734	77	K>N		No	ClinGen TOPMed gnomAD
rs773922315 CA4639642	78	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1413478660 CA370383740	78	N>S		No	ClinGen gnomAD
CA172508230 rs555090630	79	Y>C		No	ClinGen TOPMed gnomAD
CA172508231 rs555090630	79	Y>F		No	ClinGen TOPMed gnomAD
CA172508232 rs1019117061	80	E>*		No	ClinGen TOPMed
CA370383763 CA172508233 rs890940475	81	K>N		No	ClinGen TOPMed gnomAD
CA370383772 rs1452945561	83	L>M		No	ClinGen gnomAD
rs965362238 CA172508234	85	K>E		No	ClinGen TOPMed
TCGA novel	85	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	86	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1319601810 CA370383797	86	K>T		No	ClinGen gnomAD
rs1447138619	87	W>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs10096353 CA4639643	89	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA172508235 rs368232086	89	N>S		No	ClinGen TOPMed
CA172508236 rs549696960	90	Y>C		No	ClinGen 1000Genomes TOPMed
rs1432743760 CA370383825	90	Y>H		No	ClinGen gnomAD
CA370383831 rs1441592419	91	L>F		No	ClinGen TOPMed
rs1270762226 CA370383842	92	K>R		No	ClinGen TOPMed gnomAD
rs1563445609 CA370383870	96	S>Y		No	ClinGen Ensembl
rs1018435318 CA172508237	97	N>D		No	ClinGen TOPMed gnomAD
rs767181685 CA172508238	100	R>G		No	ClinGen ExAC TOPMed gnomAD
rs537533826 CA172508239	100	R>P		No	ClinGen Ensembl
rs767181685 CA4639644	100	R>W		No	ClinGen ExAC TOPMed gnomAD
CA370383898 rs1245904497	101	H>N		No	ClinGen TOPMed
CA370383903 rs1208349001	101	H>P		No	ClinGen TOPMed gnomAD
rs1266561864 CA370383905	101	H>Q		No	ClinGen gnomAD
rs1208349001 CA370383902	101	H>R		No	ClinGen TOPMed gnomAD
rs111582934 CA4639645	102	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs111582934 CA370383907	102	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374037480 CA172508241	104	D>V		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs748128616 CA4639646	106	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1366023535 CA370383943	107	L>P		No	ClinGen TOPMed
CA172508242 rs970878319	108	P>Q		No	ClinGen gnomAD
CA370383945 rs371576358	108	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4639647 rs371576358	108	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	110	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370383960 rs1386171379	110	E>A		No	ClinGen gnomAD
CA370383958 rs1386171379	110	E>G		No	ClinGen gnomAD
rs1157045469 CA370383956	110	E>Q		No	ClinGen TOPMed
CA172508243 rs980891195	111	I>V		No	ClinGen Ensembl
CA370383969 rs1421819749	112	T>P		No	ClinGen TOPMed
CA370383974 rs1585282679	112	T>S		No	ClinGen Ensembl
rs772088115 CA370383978	113	R>L		No	ClinGen gnomAD
CA370383977 rs772088115	113	R>P		No	ClinGen gnomAD
rs772088115 CA172508244	113	R>Q		No	ClinGen gnomAD
CA4639649 rs184032075	114	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370383988 rs1431519442	115	S>*		No	ClinGen TOPMed
rs916402149 CA172508245	116	D>A		No	ClinGen TOPMed gnomAD
rs1434249959 CA370383991	116	D>H		No	ClinGen TOPMed gnomAD
COSM1199041 rs1434249959 CA370383992	116	D>Y	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA370384007 COSM1096359 rs1477969215	118	E>*	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs989859769 CA172508247	119	L>F		No	ClinGen Ensembl
CA370384013 rs1346244522	119	L>M		No	ClinGen gnomAD
rs1285093435 CA370384017	119	L>S		No	ClinGen TOPMed
rs947858440 CA172508248	120	N>T		No	ClinGen TOPMed
rs1228001726 CA370384030	121	A>V		No	ClinGen gnomAD
CA370384033 rs1213998694	122	L>V		No	ClinGen TOPMed
CA172508249 rs750546085	123	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs750546085 CA4639651	123	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs188771522 CA4639652	123	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs78491094 CA4639653	125	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	127	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747274124 CA4639654	128	M>V		No	ClinGen ExAC gnomAD
CA370384083 rs1480513546	129	K>N		No	ClinGen gnomAD
CA370384091 rs1304022996	130	I>M		No	ClinGen TOPMed
CA370384092 rs1181007986	131	N>D		No	ClinGen gnomAD
rs943873456 CA172508250	131	N>S		No	ClinGen TOPMed
CA370384095 rs943873456	131	N>T		No	ClinGen TOPMed
TCGA novel	132	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs899551215 CA172508252	133	I>F		No	ClinGen gnomAD
CA370384116 rs1470969767	134	H>R		No	ClinGen TOPMed gnomAD
rs536081281 COSM1455019 CA4639655	135	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs577021237 CA172508253	135	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
CA4639656 rs112415970	137	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1304940675 CA370384136	138	D>N		No	ClinGen TOPMed gnomAD
rs1304940675 CA370384138	138	D>Y		No	ClinGen TOPMed gnomAD
rs1178105196 CA370384149	139	S>Y		No	ClinGen TOPMed
rs769981293 CA172508254	140	K>Q		No	ClinGen Ensembl
CA172508255 rs1027088868	141	K>E		No	ClinGen TOPMed
rs77590029 CA4639658	142	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA172508256 rs200500548	143	T>M		No	ClinGen ExAC TOPMed gnomAD
CA4639659 rs200500548	143	T>R		No	ClinGen ExAC TOPMed gnomAD
CA4639661 rs556488896	144	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1019146964 CA172508257	144	S>R		No	ClinGen TOPMed gnomAD
rs771614677 CA4639662	146	R>T		No	ClinGen ExAC gnomAD
CA370384204 rs1317781691	147	H>Q		No	ClinGen TOPMed
rs1248791093 CA370384206	148	K>E		No	ClinGen gnomAD
CA370384220 rs1293233302	149	K>N		No	ClinGen TOPMed gnomAD
rs1025228723 CA172508259	150	L>V		No	ClinGen Ensembl
rs1490363047 CA370384228	151	H>Y		No	ClinGen gnomAD
rs1451164142 CA370384238	152	L>P		No	ClinGen gnomAD
CA370384241 rs1247839118	153	G>*		No	ClinGen gnomAD
rs1563445823 CA370384251	154	L>F		No	ClinGen Ensembl
CA370384256 rs1367663100	155	D>A		No	ClinGen TOPMed gnomAD
rs1182096098 CA370384253	155	D>N		No	ClinGen gnomAD
rs1367663100 CA370384258	155	D>V		No	ClinGen TOPMed gnomAD
rs545463530 CA370384277	158	A>D		No	ClinGen 1000Genomes TOPMed gnomAD
CA4639663 rs577987071	158	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577987071 CA172508262	158	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs545463530 CA172508263	158	A>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs760379681 CA4639664	159	S>L		No	ClinGen ExAC TOPMed gnomAD
CA172508264 rs983453912	161	R>G		No	ClinGen TOPMed gnomAD
rs958340697 CA172508265	162	D>G		No	ClinGen TOPMed gnomAD
CA172508266 rs1014868589	163	A>V		No	ClinGen TOPMed gnomAD
rs989562403 CA172508267	164	F>S		No	ClinGen TOPMed gnomAD
CA370384317 rs1186391560	165	S>G		No	ClinGen TOPMed
CA370384327 rs1454956176	166	C>F		No	ClinGen TOPMed gnomAD
rs1454956176 CA370384329	166	C>Y		No	ClinGen TOPMed gnomAD
rs1342019941 CA370384332	167	T>P		No	ClinGen gnomAD
rs1249050314 CA370384345	169	P>A		No	ClinGen TOPMed gnomAD
rs543203990 CA370384351	170	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs543203990 CA4639668	170	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA172508268 rs960804987	172	L>F		No	ClinGen TOPMed gnomAD
rs1185149820 CA370384373	173	L>S		No	ClinGen gnomAD
rs1342091634 CA370384371	173	L>V		No	ClinGen TOPMed gnomAD
CA4639670 rs750434020	174	N>D		No	ClinGen ExAC gnomAD
CA172508270 rs532008604	174	N>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA370384381 rs1168255329	174	N>S		No	ClinGen gnomAD
rs1462623371 CA370384395	176	I>M		No	ClinGen TOPMed gnomAD
rs916625118 CA172508271	176	I>N		No	ClinGen TOPMed gnomAD
rs1243794780 CA370384399	177	Y>S		No	ClinGen TOPMed gnomAD
rs1172186499 CA370384413	179	K>E		No	ClinGen gnomAD
rs977350805 CA172508272	179	K>R		No	ClinGen TOPMed gnomAD
CA370384433 COSM454063 rs1454806526	181	M>I	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA370384428 rs1467181513	181	M>V		No	ClinGen TOPMed
rs912441527 CA172508273	182	R>T		No	ClinGen Ensembl
CA4639671 rs765217669	184	T>A		No	ClinGen ExAC TOPMed gnomAD
CA4639672 rs780348430	184	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs925263888 CA172508276	185	P>L		No	ClinGen TOPMed gnomAD
rs182017068 CA172508277	187	Q>*		No	ClinGen 1000Genomes ExAC TOPMed
rs182017068 CA4639674	187	Q>E		No	ClinGen 1000Genomes ExAC TOPMed
CA370384467 rs1563445961	187	Q>R		No	ClinGen Ensembl
rs368328836 CA172508278	189	A>V		No	ClinGen ESP TOPMed gnomAD
CA370384486 rs1585283102	190	A>T		No	ClinGen Ensembl
rs1261455564 CA370384507	193	Q>*		No	ClinGen gnomAD
rs748570647 CA4639677	193	Q>P		No	ClinGen ExAC gnomAD
CA4639678 rs770108669	195	I>L		No	ClinGen ExAC TOPMed gnomAD
CA370384526 rs1187814298	195	I>M		No	ClinGen TOPMed gnomAD
rs1464322077 CA370384528	196	S>P		No	ClinGen TOPMed gnomAD
CA172508281 rs1048132890	197	Y>C		No	ClinGen TOPMed
CA370384537 rs1048132890	197	Y>F		No	ClinGen TOPMed
rs899546441 CA172508282	198	Q>H		No	ClinGen TOPMed gnomAD
rs778316337 CA370384544	198	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs778316337 CA370384543	198	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs778316337 CA4639679	198	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA370384549 rs1585283162	199	C>Y		No	ClinGen Ensembl
CA370384557 rs1427290831	200	P>H		No	ClinGen TOPMed gnomAD
CA370384559 rs1427290831	200	P>L		No	ClinGen TOPMed gnomAD
CA370384558 rs1427290831	200	P>R		No	ClinGen TOPMed gnomAD
CA580505001 rs1177493101	201	Y>*		No	ClinGen gnomAD
rs1403342848 CA370384564	201	Y>C		No	ClinGen TOPMed
rs752134623 CA172508284	202	C>F		No	ClinGen TOPMed gnomAD
rs752134623 CA172508283	202	C>Y		No	ClinGen TOPMed gnomAD
CA172508285 rs767979219	203	N>K		No	ClinGen Ensembl
CA370384584 rs1386251460	204	R>M		No	ClinGen gnomAD
rs1179920522 CA370384595	205	K>N		No	ClinGen gnomAD
CA4639680 rs750000002 COSM1455021	207	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA370384608 rs1585283231	208	E>K		No	ClinGen Ensembl
CA4639681 rs1554544920	209	L>V		No	ClinGen Ensembl
CA172508286 rs760216970	210	A>T		No	ClinGen TOPMed gnomAD
CA4639683 rs150987521	212	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1563446081 CA370384638	213	A>D		No	ClinGen Ensembl
CA4639684 rs774995146	215	L>V		No	ClinGen ExAC gnomAD
rs1046688888 CA172508287	216	K>E		No	ClinGen TOPMed gnomAD
CA370384674 TCGA novel rs1266839408	218	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed gnomAD
rs187157511 CA4639685	219	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1200410819 CA370384688	220	T>I		No	ClinGen gnomAD
CA370384687 rs1200410819	220	T>S		No	ClinGen gnomAD
CA370384697 rs1411581908	222	L>V		No	ClinGen gnomAD
rs1161650691 CA370384720	225	F>C		No	ClinGen TOPMed gnomAD
rs796474325 CA172508289	226	L>I		No	ClinGen TOPMed
rs1346191849 CA370384724	226	L>R		No	ClinGen gnomAD
rs796474325 CA370384723	226	L>V		No	ClinGen TOPMed
rs768389017 CA4639686	227	L>F		No	ClinGen ExAC
CA4639687 rs776237853	229	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1013508825 CA370384747	230	R>G		No	ClinGen TOPMed gnomAD
CA370384752 rs1274160253	230	R>S		No	ClinGen TOPMed
CA370384750 rs1363127945	230	R>T		No	ClinGen gnomAD
rs761645540 CA4639688	231	I>T		No	ClinGen ExAC TOPMed gnomAD
CA370384763 rs1347160353	232	D>G		No	ClinGen TOPMed
rs1399180238 CA370384780	234	H>R		No	ClinGen TOPMed
rs535942960 CA4639690	236	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1221750018 CA370384791	236	H>Y		No	ClinGen gnomAD
rs763038035 CA4639691	237	T>A		No	ClinGen ExAC gnomAD
rs1423903017 CA370384814	239	D>G		No	ClinGen TOPMed
TCGA novel	239	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370384823 rs1223244294	240	F>C		No	ClinGen gnomAD
rs1490857556 CA370384819	240	F>L		No	ClinGen TOPMed gnomAD
rs1251178162 CA370384827	241	L>V		No	ClinGen gnomAD
rs200666163 CA4639695	243	R>C		No	ClinGen ESP ExAC TOPMed
rs77652817 CA4639696	243	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200666163 CA370384838	243	R>S		No	ClinGen ESP ExAC TOPMed
TCGA novel	244	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA172508293 rs965697130	247	A>E		No	ClinGen gnomAD
rs536934802 CA172508295	250	D>G		No	ClinGen 1000Genomes
TCGA novel	250	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA172508296 rs921128564	251	F>L		No	ClinGen TOPMed gnomAD
TCGA novel	254	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149798700 CA172508297	256	D>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs1163591057 CA370384925	256	D>H		No	ClinGen gnomAD
CA370384924 rs1163591057	256	D>N		No	ClinGen gnomAD
rs1439547544 CA370384938	257	D>E		No	ClinGen gnomAD
CA370384940 rs767759297	258	P>S		No	ClinGen ExAC gnomAD
CA4639697 rs767759297	258	P>T		No	ClinGen ExAC gnomAD
rs1395300989 CA370384944	259	R>G		No	ClinGen gnomAD
CA172508298 rs956633330	259	R>T		No	ClinGen TOPMed gnomAD
rs558609269 CA4639698	260	I>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA172508299 rs1048620835	261	I>L		No	ClinGen gnomAD
CA370384969 rs1305888065	262	W>C		No	ClinGen gnomAD
COSM673725 rs1206851647 CA370384987	265	L>V	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1233730236 CA370384996	266	T>S		No	ClinGen gnomAD
CA370384997 rs1338175390	267	E>K		No	ClinGen TOPMed
rs146773735 CA4639700	268	K>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4639701 rs146773735	268	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs939680236 CA172508300	270	H>P		No	ClinGen gnomAD
CA172508301 rs763750008	271	I>M		No	ClinGen Ensembl
rs757766184 CA4639702	271	I>V		No	ClinGen ExAC gnomAD
CA370385032 rs1445719102	272	R>*		No	ClinGen gnomAD
rs1168570899 CA370385048	274	S>A		No	ClinGen gnomAD
CA4639703 rs554147664	274	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554147664 CA370385050	274	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370385054 rs1407783625	275	G>D		No	ClinGen gnomAD
rs1039737134 CA172508304	277	E>K		No	ClinGen TOPMed
rs1172075185 CA370385074	278	R>K		No	ClinGen gnomAD
rs746547308 CA4639704	279	S>*		No	ClinGen ExAC gnomAD
CA370385081 rs1563446287	279	S>A		No	ClinGen Ensembl
CA370385082 rs746547308	279	S>L		No	ClinGen ExAC gnomAD
rs1468973364 CA370385093	281	T>A		No	ClinGen gnomAD
CA370385103 CA172508306 rs906180487	282	E>D		No	ClinGen gnomAD
CA172508305 rs1046075131	282	E>G		No	ClinGen TOPMed gnomAD
rs1585283606 CA370385099	282	E>Q		No	ClinGen Ensembl
CA172508307 rs778874736	283	Q>E		No	ClinGen Ensembl
CA370385114 rs1384754205	284	K>T		No	ClinGen gnomAD
CA370385123 rs1359947023	285	L>F		No	ClinGen gnomAD
rs11203497 VAR_063135 CA4639705	285	L>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs931046677 CA172508308	285	L>S		No	ClinGen TOPMed gnomAD
rs1049256774 CA172508309	286	Q>L		No	ClinGen TOPMed
rs140504541 CA4639706	287	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370385132 rs1472627562	287	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1235964194 CA370385136	288	D>H		No	ClinGen TOPMed
rs887927420 CA172508310	289	G>R		No	ClinGen TOPMed
CA4639707 rs747821007	291	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1263631015 CA370385164	292	A>P		No	ClinGen TOPMed
rs1202039689 CA370385173	293	C>S		No	ClinGen gnomAD
CA370385172 rs1202039689	293	C>Y		No	ClinGen gnomAD
CA370385178 rs542176418	294	H>D		No	ClinGen gnomAD
CA172508312 rs542176418	294	H>Y		No	ClinGen gnomAD
CA370385186 rs1315830251	295	L>*		No	ClinGen TOPMed
CA4639708 rs769617734	298	S>C		No	ClinGen ExAC TOPMed gnomAD
CA370385211 rs1240927434	299	L>V		No	ClinGen TOPMed gnomAD
CA370385218 rs1187694989	300	P>Q		No	ClinGen gnomAD
rs1476683375 CA370385215	300	P>T		No	ClinGen gnomAD
rs200907430 CA172508313	301	F>I		No	ClinGen gnomAD
rs1011037834 CA172508315	301	F>L		No	ClinGen TOPMed gnomAD
rs758451818 CA172508314	301	F>S		No	ClinGen TOPMed gnomAD
CA4639710 rs561451447	303	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766448217 CA4639711	304	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1021004817 CA172508318	304	R>P		No	ClinGen TOPMed gnomAD
CA172508317 rs1021004817	304	R>Q		No	ClinGen TOPMed gnomAD
CA370385242 rs1343300562	305	L>V		No	ClinGen gnomAD
rs190827878 CA4639713	306	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4639712 rs774481502	306	T>S		No	ClinGen ExAC gnomAD
rs190827878 CA172508320	306	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1345024527 CA370385251	307	L>V		No	ClinGen gnomAD
CA172508321 rs745996247	310	P>L		No	ClinGen Ensembl
CA4639715 rs180788033	310	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1324702398 CA370385280	311	E>D		No	ClinGen TOPMed gnomAD
TCGA novel	312	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370385287 CA370385288 rs185450144	313	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs185450144 CA172508323	313	V>M		No	ClinGen 1000Genomes TOPMed gnomAD
rs1282604719 CA370385305	316	N>H		No	ClinGen gnomAD
CA172508324 rs368655522	319	V>A		No	ClinGen Ensembl
CA370385335 rs1320912910	320	V>Q		No	ClinGen TOPMed

No associated diseases with Q96LL4

10 regional properties for Q96LL4

Type	Name	Position	InterPro Accession
domain	DNA topoisomerase, type IA, domain 2	104 - 192	IPR003601
domain	DNA topoisomerase, type IA, DNA-binding domain	242 - 508	IPR003602
domain	TOPRIM domain	3 - 113	IPR006171
domain	DNA topoisomerase, type IA, central	77 - 90	IPR013497-1
domain	DNA topoisomerase, type IA, central	128 - 556	IPR013497-2
domain	DNA topoisomerase, type IA, zn finger	574 - 611	IPR013498-1
domain	DNA topoisomerase, type IA, zn finger	614 - 653	IPR013498-2
domain	DNA topoisomerase, type IA, zn finger	655 - 688	IPR013498-3
active_site	DNA topoisomerase, type IA, active site	279 - 302	IPR023406
domain	DNA topoisomerase 1, TOPRIM domain	4 - 125	IPR034149

Functions

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

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

No homologous proteins in AiPD

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

10	20	30	40	50	60
MAICPELAQT	DKSALANLSD	ETETLKNSTD	EVQTSSSFSS	SGGRQSSPLT	SGSKLEREKQ
70	80	90	100	110	120
TPSLEQGDTQ	SELLDYKNYE	KKLSKKWINY	LKLKDSNFER	HQPDTKLPTE	ITRVSDEELN
130	140	150	160	170	180
ALQSYCTMKI	NLIHRRGDSK	KKTSSRHKKL	HLGLDVEASE	RDAFSCTVPD	ELLNRIYFKN
190	200	210	220	230	240
MRTTPKQEAA	AKQHISYQCP	YCNRKRAELA	LSAFLKQKKT	LLESFLLQER	IDEHLHTKDF
250	260	270	280	290	300
LTRIGEAHQD	FPRLSDDPRI	IWKRLTEKSH	IRYSGFERSE	TEQKLQRDGN	SACHLPFSLP
310
FLKRLTLIKP	ELVIVNDNV