AiPD: Autoinhibited Protein Database

Q8N884

Gene name	CGAS
Protein name	Cyclic GMP-AMP synthase
Names	cGAMP synthase, cGAS, h-cGAS, 2'3'-cGAMP synthase, Mab-21 domain-containing protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:115004
EC number	2.7.7.86: Nucleotidyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-180 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-180 (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

95 structures for Q8N884

Entry ID	Method	Resolution	Chain	Position	Source
4KM5	X-ray	250 A	A	157-522	PDB
4LEV	X-ray	195 A	A/B	157-522	PDB
4LEW	X-ray	204 A	A/B	157-522	PDB
4MKP	X-ray	195 A	A	161-522	PDB
4O67	X-ray	244 A	A/B	161-522	PDB
4O68	X-ray	244 A	A	147-522	PDB
4O69	X-ray	225 A	A	161-522	PDB
5V8O	X-ray	310 A	A/B	161-522	PDB
5VDO	X-ray	322 A	A/B	161-522	PDB
5VDP	X-ray	230 A	A/B	161-522	PDB
5VDQ	X-ray	325 A	A/B	161-522	PDB
5VDR	X-ray	304 A	A/B	161-522	PDB
5VDS	X-ray	277 A	A/B	161-522	PDB
5VDT	X-ray	258 A	A/B	161-522	PDB
5VDU	X-ray	273 A	A/B	161-522	PDB
5VDV	X-ray	300 A	A/B	161-522	PDB
5VDW	X-ray	271 A	A/B	161-522	PDB
6CT9	X-ray	226 A	A	157-522	PDB
6CTA	X-ray	278 A	A	157-522	PDB
6EDB	X-ray	321 A	A/B	157-522	PDB
6EDC	X-ray	271 A	A	157-522	PDB
6LRC	X-ray	183 A	A/B	157-522	PDB
6LRE	X-ray	265 A	A/B	157-522	PDB
6LRI	X-ray	250 A	A/B	157-522	PDB
6LRJ	X-ray	300 A	A/B	157-522	PDB
6LRK	X-ray	225 A	A/B	157-522	PDB
6LRL	X-ray	265 A	A/B	157-522	PDB
6MJU	X-ray	245 A	A	152-522	PDB
6MJW	X-ray	240 A	A	152-522	PDB
6MJX	X-ray	260 A	A	152-522	PDB
6NAO	X-ray	323 A	A/B	161-522	PDB
6NFG	X-ray	276 A	A/B	161-522	PDB
6NFO	X-ray	293 A	A/B	161-522	PDB
6O47	X-ray	220 A	A	152-522	PDB
6Y5D	EM	410 A	K/L	161-522	PDB
6Y5E	EM	315 A	K	161-522	PDB
7C0M	EM	390 A	K/k	151-522	PDB
7CCQ	EM	380 A	K	157-522	PDB
7CCR	EM	490 A	K/V	157-522	PDB
7FTF	X-ray	151 A	A	161-522	PDB
7FTG	X-ray	173 A	A/B	161-522	PDB
7FTH	X-ray	255 A	A	161-522	PDB
7FTI	X-ray	200 A	A	161-522	PDB
7FTJ	X-ray	146 A	A	161-522	PDB
7FTK	X-ray	212 A	A/B	161-522	PDB
7FTL	X-ray	220 A	A	161-522	PDB
7FTM	X-ray	170 A	A	161-522	PDB
7FTN	X-ray	200 A	A	161-522	PDB
7FTO	X-ray	240 A	A	161-522	PDB
7FTP	X-ray	248 A	A	161-522	PDB
7FTQ	X-ray	208 A	A	161-522	PDB
7FTR	X-ray	164 A	A	161-522	PDB
7FTS	X-ray	221 A	A	161-522	PDB
7FTT	X-ray	223 A	A/B	161-522	PDB
7FTU	X-ray	165 A	A	161-522	PDB
7FTV	X-ray	188 A	A	161-522	PDB
7FTW	X-ray	221 A	A	161-522	PDB
7FTX	X-ray	283 A	A	161-522	PDB
7FTY	X-ray	230 A	A	161-522	PDB
7FTZ	X-ray	250 A	A/B	161-522	PDB
7FU0	X-ray	197 A	A	161-522	PDB
7FU1	X-ray	207 A	A	161-522	PDB
7FU2	X-ray	230 A	A	161-522	PDB
7FU3	X-ray	182 A	A	161-522	PDB
7FU4	X-ray	193 A	A	161-522	PDB
7FU5	X-ray	218 A	A/B	161-522	PDB
7FU6	X-ray	237 A	A	161-522	PDB
7FU7	X-ray	224 A	A	161-522	PDB
7FU8	X-ray	172 A	A	161-522	PDB
7FU9	X-ray	167 A	A	161-522	PDB
7FUA	X-ray	144 A	A	161-522	PDB
7FUB	X-ray	198 A	A	161-522	PDB
7FUC	X-ray	252 A	A	161-522	PDB
7FUD	X-ray	203 A	A/B	161-522	PDB
7FUE	X-ray	217 A	A	161-522	PDB
7FUF	X-ray	192 A	A	161-522	PDB
7FUG	X-ray	211 A	A/B	161-522	PDB
7FUH	X-ray	194 A	A	161-522	PDB
7FUI	X-ray	174 A	A	161-522	PDB
7FUJ	X-ray	179 A	A	161-522	PDB
7FUK	X-ray	161 A	A	161-522	PDB
7FUL	X-ray	230 A	A	161-522	PDB
7FUM	X-ray	206 A	A	161-522	PDB
7FUN	X-ray	207 A	A	161-522	PDB
7FUO	X-ray	181 A	A	161-522	PDB
7FUP	X-ray	241 A	A	161-522	PDB
7FUQ	X-ray	176 A	A	161-522	PDB
7FUR	X-ray	170 A	A	161-522	PDB
8IME	X-ray	263 A	A/B	157-522	PDB
8IMF	X-ray	240 A	A/B	157-522	PDB
8IMG	X-ray	180 A	A/B	157-522	PDB
8OKX	EM	351 A	A	156-522	PDB
8OL1	EM	350 A	K	161-522	PDB
8WR8	X-ray	310 A	A/B	161-522	PDB
AF-Q8N884-F1	Predicted				AlphaFoldDB

453 variants for Q8N884

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA364711663 rs774733961	3	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3889179 rs774733961	3	P>R		No	ClinGen ExAC TOPMed gnomAD
CA364711665 rs1406989312	3	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3889178 rs770727137	5	H>Y		No	ClinGen ExAC gnomAD
rs1582660495 CA364711632	8	A>P		No	ClinGen Ensembl
CA364711621 rs1484111485	9	M>I		No	ClinGen gnomAD
CA364711623 rs1167718559	9	M>T		No	ClinGen TOPMed
CA3889177 rs34605178	9	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1255208821 CA364711613	10	Q>L		No	ClinGen gnomAD
CA364711601 rs1306771526	12	A>D		No	ClinGen gnomAD
CA3889176 rs777423092	12	A>S		No	ClinGen ExAC gnomAD
rs926391717 CA140941514	13	S>Y		No	ClinGen Ensembl
rs1405966339 CA364711593	14	E>K		No	ClinGen TOPMed
CA3889172 rs754846031	15	A>P		No	ClinGen ExAC gnomAD
CA364711585 rs754846031	15	A>T		No	ClinGen ExAC gnomAD
rs751343807 CA3889171	16	G>*		No	ClinGen ExAC gnomAD
CA364711578 rs1451941695	16	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs147035222 RCV000953228 CA3889170	17	A>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1344337430 CA364711575	17	A>T		No	ClinGen gnomAD
rs753993852 CA3889168	21	K>R		No	ClinGen ExAC gnomAD
rs1307042642 CA364711544	22	A>T		No	ClinGen TOPMed gnomAD
CA140941488 rs966509155	22	A>V		No	ClinGen TOPMed
rs1444650325 CA364711536	23	S>F		No	ClinGen gnomAD
CA3889166 rs760649119	24	A>S		No	ClinGen ExAC TOPMed gnomAD
CA364711530 rs1314022859	24	A>V		No	ClinGen gnomAD
CA3889164 rs767939944	25	R>L		No	ClinGen ExAC TOPMed gnomAD
rs767939944 CA364711527	25	R>P		No	ClinGen ExAC TOPMed gnomAD
CA364711528 rs767939944	25	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3889165 rs372417314	25	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs774867546 CA364711512	28	R>G		No	ClinGen ExAC TOPMed gnomAD
rs774867546 CA3889162	28	R>W		No	ClinGen ExAC TOPMed gnomAD
CA364711503 rs1245895147	29	G>D		No	ClinGen gnomAD
CA364711504 rs1290150050	29	G>S		No	ClinGen gnomAD
rs1314973747 CA364711499	30	A>P		No	ClinGen gnomAD
CA364711495 rs1380722770	30	A>V		No	ClinGen gnomAD
CA364711490 rs1361576360	31	P>Q		No	ClinGen gnomAD
CA3889160 rs762757889	32	M>L		No	ClinGen ExAC gnomAD
CA3889159 rs772990516	33	D>V		No	ClinGen ExAC
CA3889158 rs769481836	34	P>S		No	ClinGen ExAC gnomAD
rs1192658709 CA364711467	35	T>A		No	ClinGen TOPMed
rs9352000 CA3889156 VAR_050811	35	T>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3889157 rs9352000	35	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364711462 rs1369636757	36	E>*		No	ClinGen TOPMed gnomAD
CA364711457 rs1561933242	36	E>D		No	ClinGen Ensembl
rs1369636757 CA364711464	36	E>K		No	ClinGen TOPMed gnomAD
CA364711453 rs746906830	37	S>C		No	ClinGen ExAC TOPMed gnomAD
CA3889154 rs746906830	37	S>F		No	ClinGen ExAC TOPMed gnomAD
rs779830325 CA364711451	38	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs758174938 CA3889152	38	P>L		No	ClinGen ExAC gnomAD
rs779830325 CA3889153	38	P>T		No	ClinGen ExAC gnomAD
CA3889150 rs777938732	39	A>P		No	ClinGen ExAC TOPMed gnomAD
rs756318362 CA3889149	40	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1357735901 CA364711433	41	P>L		No	ClinGen gnomAD
rs1357735901 CA364711434	41	P>R		No	ClinGen gnomAD
CA3889147 rs767573211	41	P>S		No	ClinGen ExAC TOPMed
CA140941362 rs901219481	42	E>*		No	ClinGen TOPMed gnomAD
CA364711432 rs901219481	42	E>K		No	ClinGen TOPMed gnomAD
CA364711431 rs901219481	42	E>Q		No	ClinGen TOPMed gnomAD
rs752104616 CA3889145	43	A>D		No	ClinGen ExAC TOPMed gnomAD
CA3889146 rs755440893	43	A>T		No	ClinGen ExAC TOPMed gnomAD
rs752104616 CA364711422	43	A>V		No	ClinGen ExAC TOPMed gnomAD
CA364711400 rs1561933207	47	K>R		No	ClinGen Ensembl
CA3889143 rs35629782	48	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3889144 rs766912294	48	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1448918635 CA364711389	49	G>E		No	ClinGen TOPMed
rs761478616 CA3889140 CA3889141	50	K>N		No	ClinGen ExAC TOPMed gnomAD
CA140941291 rs1048612855	53	P>A		No	ClinGen TOPMed gnomAD
rs1048612855 CA140941289	53	P>S		No	ClinGen TOPMed gnomAD
CA3889139 rs769976348	54	A>S		No	ClinGen ExAC TOPMed gnomAD
rs769976348 CA364711362	54	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3889138 rs768147921	55	R>G		No	ClinGen ExAC gnomAD
CA364711354 rs1172325497	55	R>M		No	ClinGen gnomAD
CA364711352 rs34985291	55	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA140941266 rs539927816	56	K>N		No	ClinGen 1000Genomes gnomAD
rs1452688603 CA364711329	59	S>Y		No	ClinGen gnomAD
rs1194601988 CA364711326	60	R>W		No	ClinGen TOPMed gnomAD
CA140941257 rs943315453	62	K>*		No	ClinGen TOPMed gnomAD
rs572861541 CA3889135	63	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1200706493 CA364711293	64	S>R		No	ClinGen gnomAD
CA364711289 rs1582660295	65	A>S		No	ClinGen Ensembl
CA140941247 rs370645038	66	P>R		No	ClinGen gnomAD
CA364711283 rs1282360336	66	P>S		No	ClinGen gnomAD
rs1561933159 CA364711268	68	T>S		No	ClinGen Ensembl
rs1390782804 CA364711261	69	Q>L		No	ClinGen gnomAD
rs913614476 CA140941219	70	E>G		No	ClinGen TOPMed gnomAD
CA364711247 rs1400336397	71	R>M		No	ClinGen gnomAD
TCGA novel	72	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364711234 rs1467874488	73	P>R		No	ClinGen gnomAD
rs1332853713 CA364711236	73	P>S		No	ClinGen gnomAD
rs375723811 CA140941175	74	V>F		No	ClinGen TOPMed gnomAD
rs375723811 CA140941177	74	V>I		No	ClinGen TOPMed gnomAD
rs1478528698 CA364711228	75	R>C		No	ClinGen gnomAD
CA364711220 rs1291310244	76	A>G		No	ClinGen TOPMed
rs987846250 CA364711222	76	A>P		No	ClinGen TOPMed gnomAD
rs987846250 CA140941169	76	A>S		No	ClinGen TOPMed gnomAD
rs987846250 CA140941173	76	A>T		No	ClinGen TOPMed gnomAD
rs1419025132 CA364711217	77	T>A		No	ClinGen TOPMed gnomAD
rs980310855 CA364711215	77	T>N		No	ClinGen TOPMed
rs1419025132 CA364711218	77	T>P		No	ClinGen TOPMed gnomAD
rs980310855 CA140941150	77	T>S		No	ClinGen TOPMed
CA364711199 rs1460144649	80	R>C		No	ClinGen TOPMed gnomAD
CA140941149 rs866696488	80	R>H		No	ClinGen TOPMed gnomAD
CA364711197 rs866696488	80	R>L		No	ClinGen TOPMed gnomAD
rs1460144649 CA364711201	80	R>S		No	ClinGen TOPMed gnomAD
CA364711196 rs200213844	81	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3889131 rs200213844	81	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	81	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1346816677 CA364711189	82	K>E		No	ClinGen TOPMed gnomAD
rs748331365 CA3889130	82	K>T		No	ClinGen ExAC TOPMed gnomAD
CA364711173 rs1377613168	84	A>D		No	ClinGen TOPMed gnomAD
CA364711171 rs1377613168	84	A>V		No	ClinGen TOPMed gnomAD
CA140941132 rs953388880	86	Q>*		No	ClinGen gnomAD
CA3889127 rs752163963	86	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA364711154 rs1415849924	87	R>P		No	ClinGen gnomAD
rs1024891888 CA140941124	88	A>S		No	ClinGen TOPMed gnomAD
CA364711152 rs1024891888	88	A>T		No	ClinGen TOPMed gnomAD
RCV000709898 rs749545076	89	Q>missing		No	ClinVar dbSNP
CA364711142 rs1304962186	89	Q>R		No	ClinGen TOPMed
CA3889124 rs758938193	93	P>S		No	ClinGen ExAC gnomAD
rs758938193 CA364711117	93	P>T		No	ClinGen ExAC gnomAD
rs1026365134 CA140941119	94	S>F		No	ClinGen TOPMed
CA364711107 rs1407535069	95	D>N		No	ClinGen Ensembl
rs750841042 CA3889123	97	T>I		No	ClinGen ExAC TOPMed gnomAD
CA3889122 rs141133909	101	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364711064 rs1259366551	101	G>V		No	ClinGen gnomAD
CA140941098 rs943276786	102	A>T		No	ClinGen TOPMed gnomAD
CA364711055 rs776344260	103	E>A		No	ClinGen ExAC gnomAD
CA3889120 rs776344260	103	E>G		No	ClinGen ExAC gnomAD
CA364711051 rs1358053788	104	G>R		No	ClinGen gnomAD
CA140941048 rs1015622683	106	E>K		No	ClinGen TOPMed
rs200136243 CA3889118	107	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA364711028 rs769416693	108	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3889117 rs769416693	108	P>T		No	ClinGen ExAC TOPMed gnomAD
CA3889116 rs774941526	109	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1423321373 CA364711011	111	R>W		No	ClinGen gnomAD
rs866098353 CA140941036	112	E>Q		No	ClinGen Ensembl
rs1188740658 CA364711003	112	E>V		No	ClinGen TOPMed
rs1163950892 CA364710995	113	P>L		No	ClinGen gnomAD
rs1447658649 CA364710986	115	L>F		No	ClinGen TOPMed
rs1582660138 CA364710982	116	S>A		No	ClinGen Ensembl
rs772019128 CA3889115	116	S>F		No	ClinGen ExAC
CA3889114 rs745744660	117	R>G		No	ClinGen ExAC gnomAD
CA3889113 rs774017782	117	R>T		No	ClinGen ExAC gnomAD
CA364710969 rs1220094691	118	A>D		No	ClinGen TOPMed gnomAD
rs1265107098 CA364710972	118	A>T		No	ClinGen gnomAD
CA364710963 rs1225685356	119	G>A		No	ClinGen TOPMed
rs545433028 CA364710966	119	G>R		No	ClinGen TOPMed gnomAD
rs545433028 CA140941006	119	G>S		No	ClinGen TOPMed gnomAD
rs1225685356 CA364710962	119	G>V		No	ClinGen TOPMed
CA364710950 rs1289928785	121	C>Y		No	ClinGen gnomAD
COSM4161347 rs1337026332 CA364710945	122	R>C	thyroid [Cosmic]	No	ClinGen cosmic curated gnomAD
rs770753111 CA3889112	122	R>L		No	ClinGen ExAC TOPMed gnomAD
rs748373505 CA3889111	123	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	123	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781457078 CA3889110	124	R>K		No	ClinGen ExAC gnomAD
rs755056462 CA3889109	125	G>D		No	ClinGen ExAC TOPMed gnomAD
rs755056462 CA364710925	125	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1349878419 CA364710920	126	A>E		No	ClinGen gnomAD
rs1403605966 CA364710924	126	A>T		No	ClinGen TOPMed gnomAD
CA364710907 rs1324272884	128	C>F		No	ClinGen gnomAD
CA3889108 rs552671009	129	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1407101416 CA364710902	129	S>P		No	ClinGen gnomAD
CA364710903 rs1407101416	129	S>T		No	ClinGen gnomAD
rs1414049930 CA364710896	130	T>K		No	ClinGen TOPMed
CA3889107 rs527795978	132	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	133	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA140940938 rs1003713332	133	R>S		No	ClinGen Ensembl
CA364710878 rs1168016799	133	R>T		No	ClinGen TOPMed
CA364710869 rs1478282750	134	P>L		No	ClinGen gnomAD
CA3889104 rs1554146180	135	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA364710866 rs1403918612	135	P>Q		No	ClinGen TOPMed
rs1477651842 CA364710863	136	P>A		No	ClinGen gnomAD
rs757628777 CA3889102	137	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1247278348 CA364710855	137	G>R		No	ClinGen gnomAD
rs757628777 CA3889101	137	G>V		No	ClinGen ExAC TOPMed gnomAD
rs753472477 CA3889100	138	P>S		No	ClinGen ExAC gnomAD
rs763836802 CA3889099	139	W>G		No	ClinGen ExAC gnomAD
CA364710847 rs763836802	139	W>R		No	ClinGen ExAC gnomAD
CA364710834 rs1319608405	140	D>E		No	ClinGen TOPMed gnomAD
rs760271451 CA3889098	142	P>R		No	ClinGen ExAC gnomAD
rs1319229471 CA364710817	143	S>N		No	ClinGen TOPMed
rs926274545 CA140940903	144	P>L		No	ClinGen TOPMed
CA140940904 rs113374767	144	P>S		No	ClinGen gnomAD
CA364710806 rs1330820242	145	G>D		No	ClinGen TOPMed gnomAD
CA364710809 rs373045600	145	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3889095 rs373045600	145	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3889093 rs770677150	146	L>Q		No	ClinGen ExAC gnomAD
rs770677150 CA3889094	146	L>R		No	ClinGen ExAC gnomAD
CA3889090 rs747174108	147	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3889089 rs747174108	147	P>R		No	ClinGen ExAC TOPMed gnomAD
rs772844829 CA3889091	147	P>S		No	ClinGen ExAC gnomAD
TCGA novel	150	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772276292 CA3889087	151	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3889085 rs779442760	152	I>T		No	ClinGen ExAC TOPMed gnomAD
CA364710769 rs1561932931	153	L>F		No	ClinGen Ensembl
rs754251787 CA3889083	155	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA364710756 rs1451835720	155	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs755764815 CA3889081	156	R>K		No	ClinGen ExAC gnomAD
rs752337338 CA3889080	156	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	157	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767069356 CA3889079	158	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1371855931 CA364710735	159	A>T		No	ClinGen gnomAD
CA140940834 rs1052171026	160	P>S		No	ClinGen Ensembl
rs751494908 CA3889077	161	G>E		No	ClinGen ExAC gnomAD
CA364710719 rs1378402145	162	A>T		No	ClinGen gnomAD
CA364710709 rs1370319039	163	S>W		No	ClinGen TOPMed
rs754837044 CA140940827	165	L>P		No	ClinGen Ensembl
CA3889076 rs370001875	166	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA364710693 rs556099079	166	R>W		No	ClinGen TOPMed
CA364710689 rs141016543	167	A>E		No	ClinGen ExAC TOPMed gnomAD
CA3889074 rs150220319	167	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3889075 rs150220319	167	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3889073 rs141016543	167	A>V		No	ClinGen ExAC TOPMed gnomAD
CA364710677 rs1379678806	169	L>S		No	ClinGen TOPMed gnomAD
CA364710679 rs1379678806	169	L>W		No	ClinGen TOPMed gnomAD
CA3889072 rs761045584	171	K>E		No	ClinGen ExAC gnomAD
rs775843385 CA3889071	171	K>N		No	ClinGen ExAC gnomAD
CA3889069 rs745990535	174	L>F		No	ClinGen ExAC gnomAD
CA364710641 rs1478946136	174	L>P		No	ClinGen TOPMed
CA3889068 rs774244760	177	D>G		No	ClinGen ExAC gnomAD
rs1191871186 CA364710608	179	I>S		No	ClinGen TOPMed
rs985758497 CA140940775	179	I>V		No	ClinGen Ensembl
CA3889066 rs373171892	181	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1582659898 CA364710562	186	V>G		No	ClinGen Ensembl
rs1160737827 CA364710565	186	V>L		No	ClinGen TOPMed
rs778174215 CA364710553	188	G>R		No	ClinGen ExAC gnomAD
CA3889064 rs369665603	188	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs778174215 CA3889065	188	G>W		No	ClinGen ExAC gnomAD
rs1582659888 CA364710544	189	V>G		No	ClinGen Ensembl
CA364710531 rs1561932857	191	D>E		No	ClinGen Ensembl
CA3889063 rs747844982	192	H>P		No	ClinGen ExAC gnomAD
rs1304355753 CA364710500	196	R>S		No	ClinGen gnomAD
CA3889060 rs751105985	197	L>P		No	ClinGen ExAC gnomAD
rs372917212 CA3889058	198	K>R		No	ClinGen ESP ExAC gnomAD
rs750324744 CA364710487	199	C>G		No	ClinGen ExAC gnomAD
rs750324744 CA3889057	199	C>R		No	ClinGen ExAC gnomAD
CA3889056 rs765184085	199	C>W		No	ClinGen ExAC TOPMed gnomAD
rs1582659862 CA364710481	200	D>N		No	ClinGen Ensembl
CA3889055 rs761679403	201	S>C		No	ClinGen ExAC TOPMed gnomAD
CA140940684 rs761679403	201	S>F		No	ClinGen ExAC TOPMed gnomAD
CA140940686 rs761679403	201	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1415579925 CA364710469	202	A>S		No	ClinGen gnomAD
rs1311066436 CA364710463	203	F>V		No	ClinGen TOPMed
rs1353936037 CA364710457	204	R>G		No	ClinGen TOPMed
rs776525430 CA3889054	204	R>S		No	ClinGen ExAC gnomAD
CA140940652 rs952772345	206	V>A		No	ClinGen TOPMed
CA3889052 rs759618920	206	V>I		No	ClinGen ExAC gnomAD
CA3889050 rs369422354 CA364710411	212	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1453270785 CA364710404	213	S>R		No	ClinGen TOPMed
CA364710394 rs1345101857	214	Y>C		No	ClinGen gnomAD
CA140940618 rs936422794	215	Y>H		No	ClinGen TOPMed
CA3889047 rs773683850	217	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA364710364 rs1298634797	218	V>A		No	ClinGen gnomAD
rs375046828 CA3889046	218	V>L		No	ClinGen ESP ExAC gnomAD
rs926410228 CA140940607	219	K>N		No	ClinGen TOPMed gnomAD
CA3889025 rs549985083	222	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1033054939 CA140934462	223	P>A		No	ClinGen Ensembl
CA364709495 rs1325265402	225	E>V		No	ClinGen TOPMed
CA364709466 rs1424582665	227	D>V		No	ClinGen Ensembl
CA364709468 rs1451822934	227	D>Y		No	ClinGen TOPMed gnomAD
rs1371821155 CA364709432	229	M>I		No	ClinGen gnomAD
CA364709416 rs1200759497	230	F>C		No	ClinGen TOPMed gnomAD
rs1342559470 CA364709388	232	L>Q		No	ClinGen TOPMed gnomAD
TCGA novel	236	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145259959 CA3889022	239	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3889021 rs778507101	241	E>*		No	ClinGen ExAC TOPMed gnomAD
rs757263892 CA3889020	241	E>D		No	ClinGen ExAC gnomAD
rs753822606 CA140934373	244	N>K		No	ClinGen ExAC TOPMed gnomAD
rs369172604 CA3889018	246	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3889017 rs755839580	246	R>H		No	ClinGen ExAC TOPMed gnomAD
rs751844640 CA3889016	247	A>E		No	ClinGen ExAC gnomAD
CA3889015 rs766538455	248	Y>H		No	ClinGen ExAC gnomAD
rs763188406 CA3889014	249	Y>C		No	ClinGen ExAC gnomAD
rs750518997 CA3889013	250	F>S		No	ClinGen ExAC gnomAD
TCGA novel	256	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3889012 rs186630766	257	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364709050 rs1258767367	257	P>T		No	ClinGen gnomAD
rs610913 CA3889007 VAR_033677	261	P>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs610913 CA3889008	261	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1440957546 CA364708988	261	P>T		No	ClinGen gnomAD
rs771633800 CA3889005	264	Q>R		No	ClinGen ExAC gnomAD
rs1158421245 CA364708892	267	E>D		No	ClinGen TOPMed
rs371707799 CA3889004	267	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs770551313 CA3889002	268	G>D		No	ClinGen ExAC gnomAD
rs778631758 CA3889003	268	G>S		No	ClinGen ExAC gnomAD
CA364708871 rs1340916064	269	E>G		No	ClinGen gnomAD
rs1333911244 CA364708828	272	S>P		No	ClinGen gnomAD
rs1403006912 CA364708791	275	K>*		No	ClinGen TOPMed
rs1377654649 CA364708731	279	K>R		No	ClinGen TOPMed gnomAD
rs780985384 CA3888997	280	F>L		No	ClinGen ExAC gnomAD
CA3888996 rs758627851	281	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1347065196 CA364708703	281	R>K		No	ClinGen TOPMed
rs750643153 CA3888994	284	I>L		No	ClinGen ExAC gnomAD
rs765362734 CA3888993	285	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1278779578 CA364708652	285	K>Q		No	ClinGen TOPMed
TCGA novel	287	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs955664376 CA140934223	289	N>D		No	ClinGen TOPMed
CA3888990 rs764541437	290	D>G		No	ClinGen ExAC TOPMed gnomAD
rs754409437 CA3888991	290	D>N		No	ClinGen ExAC gnomAD
rs1220431139 CA364708533	293	D>H		No	ClinGen TOPMed
CA3888965 rs774812567	294	T>A		No	ClinGen ExAC TOPMed gnomAD
CA3888964 rs183690204	294	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA3888963 rs183690204	294	T>R		No	ClinGen 1000Genomes ExAC gnomAD
CA364707854 rs1256552652	295	D>N		No	ClinGen TOPMed gnomAD
CA3888962 rs772605312	297	I>T		No	ClinGen ExAC gnomAD
TCGA novel	298	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1365945469 CA364707826	299	K>E		No	ClinGen TOPMed
VAR_085524	303	G>E	found in patients with tumors; dominant mutation; reduced nucleotidyltransferase activity [UniProt]	No	UniProt
CA3888961 rs78578389	305	S>R		No	ClinGen ExAC gnomAD
CA364707762 rs1301606288	308	V>A		No	ClinGen TOPMed
rs1186282832 CA364707748	311	L>I		No	ClinGen TOPMed gnomAD
rs748096559 CA3888960	311	L>P		No	ClinGen ExAC TOPMed gnomAD
rs776612878 CA3888959	313	S>G		No	ClinGen ExAC gnomAD
rs768480244 CA3888958	314	E>Q		No	ClinGen ExAC gnomAD
rs1463209696 CA364707721	315	K>E		No	ClinGen gnomAD
TCGA novel	315	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs984054493 CA140930961	316	I>M		No	ClinGen TOPMed
rs1398456420 CA364707710	316	I>T		No	ClinGen gnomAD
rs1170257317 CA364707704	317	S>C		No	ClinGen gnomAD
rs1465882305 CA364707702	318	V>M		No	ClinGen gnomAD
CA3888956 rs779777358	319	D>A		No	ClinGen ExAC TOPMed gnomAD
CA140930956 rs368392294	319	D>N		No	ClinGen ESP TOPMed gnomAD
rs757485722 CA3888955	320	I>M		No	ClinGen ExAC gnomAD
rs749520405 CA3888954	321	T>N		No	ClinGen ExAC gnomAD
rs1192464729 CA364707645	327	K>E		No	ClinGen TOPMed
rs909191382 CA140930949	327	K>T		No	ClinGen Ensembl
TCGA novel	328	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1244665826 CA364707637	328	S>N		No	ClinGen TOPMed
rs142038538 CA3888950	329	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs142038538 CA3888951	329	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1562293160 CA364707623	330	W>*		No	ClinGen Ensembl
rs375604720 CA3888947	336	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs781222574 CA140930943	336	E>K		No	ClinGen Ensembl
CA3888945 rs750077245	339	R>C		No	ClinGen ExAC TOPMed gnomAD
rs190867294 CA3888944 COSM1081549	339	R>H	Variant assessed as Somatic; 0.0 impact. endometrium urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs190867294 CA364707563	339	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372107956 CA364707562	340	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3888943 rs372107956	340	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA140930892 rs965574214	340	I>S		No	ClinGen TOPMed
CA3888942 rs372107956	340	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA364707529 rs1279343949	344	L>P		No	ClinGen TOPMed
CA364707517 rs1443125731	346	A>E		No	ClinGen TOPMed gnomAD
rs143905398 CA3888941	347	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs749518819 CA3888935	353	R>*		No	ClinGen ExAC gnomAD
rs772235312 CA3888934	353	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1425856937 CA364707463	355	K>R		No	ClinGen gnomAD
CA3888933 rs186480105	356	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1237057806 CA364707424	361	P>A		No	ClinGen gnomAD
rs781362319 CA3888931	362	K>R		No	ClinGen ExAC gnomAD
rs982007004 CA140930847	363	H>D		No	ClinGen Ensembl
CA364707404 rs1287076884	364	A>T		No	ClinGen TOPMed
CA140930838 rs764731227	367	G>E		No	ClinGen Ensembl
CA140930831 rs748195437	368	N>S		No	ClinGen gnomAD
rs1208539248 CA364707355	371	Q>*		No	ClinGen gnomAD
CA140922830 rs200205008	375	W>*		No	ClinGen TOPMed gnomAD
COSM196016 CA3888917 rs531954415	376	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3888918 rs149902826	376	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1582649217 CA364705215	381	H>P		No	ClinGen Ensembl
CA3888912 rs73754628	382	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3888913 rs781491185	382	I>V		No	ClinGen ExAC gnomAD
rs750825685 CA3888907	383	E>D		No	ClinGen ExAC TOPMed gnomAD
rs370272118 CA3888909	383	E>K	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3888905 rs756941004	386	I>T		No	ClinGen ExAC gnomAD
CA364705162 rs753473978	389	N>H		No	ClinGen ExAC TOPMed gnomAD
rs763640060 CA3888903	389	N>S		No	ClinGen ExAC TOPMed gnomAD
rs753473978 CA3888904	389	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA3888902 rs755586918	390	H>R		No	ClinGen ExAC TOPMed gnomAD
rs970823535 CA140922684	391	G>E		No	ClinGen TOPMed gnomAD
rs146116825 CA3888900	393	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs376147946 CA3888899	395	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1027932064 CA140922616	396	C>*		No	ClinGen TOPMed gnomAD
CA3888897 rs766081918	397	C>R		No	ClinGen ExAC gnomAD
CA3888896 rs762186167	399	N>K		No	ClinGen ExAC gnomAD
rs138458631 CA3888895	400	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs138458631 CA140922614	400	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1478641579 CA364705070	401	E>G		No	ClinGen TOPMed
CA3888891 rs747116940	402	E>G		No	ClinGen ExAC gnomAD
rs1054075213 CA140922586	404	C>F		No	ClinGen Ensembl
CA364705027 rs1430850836	404	C>S		No	ClinGen gnomAD
CA3888869 rs746434360	407	K>E		No	ClinGen ExAC TOPMed gnomAD
rs774687084 CA3888868	408	D>H		No	ClinGen ExAC gnomAD
rs774687084 CA364704257	408	D>Y		No	ClinGen ExAC gnomAD
rs771383709 CA3888867	409	C>Y		No	ClinGen ExAC gnomAD
CA364704197 rs1306517577	416	L>F		No	ClinGen gnomAD
CA364704199 rs1306517577	416	L>I		No	ClinGen gnomAD
CA3888865 rs536055666	420	L>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3888864 rs114473784	422	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1421515911 CA364704151	423	R>G		No	ClinGen TOPMed
rs1166539932 CA364704130	425	K>N		No	ClinGen TOPMed
CA140919620 rs919029936	426	D>H		No	ClinGen TOPMed
CA364704128 rs919029936	426	D>N		No	ClinGen TOPMed
CA364704107 rs1330494068	428	K>N		No	ClinGen gnomAD
rs1393435454 CA364704098	429	H>Q		No	ClinGen TOPMed gnomAD
CA364704087 rs1324457133	431	D>E		No	ClinGen gnomAD
rs774342634 CA3888862	431	D>N		No	ClinGen ExAC gnomAD
rs774342634 CA140919615	431	D>Y		No	ClinGen ExAC gnomAD
VAR_085525	432	K>T	found in patients with uterine endometrioid carcinoma, reduced nucleotidyltransferase activity [UniProt]	No	UniProt
CA364704078 rs1312755765	433	F>I		No	ClinGen TOPMed gnomAD
COSM451777 rs141390590 CA3888861	433	F>L	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA3888860 rs377097470	436	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA364704048 rs148298509	437	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3888859 rs148298509	437	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1255242854 CA364704024	441	A>S		No	ClinGen gnomAD
CA3888857 rs372631572	442	F>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA364704018 rs1486650584	442	F>L		No	ClinGen gnomAD
CA140919566 rs1056714207	444	H>N		No	ClinGen Ensembl
CA3888854 rs570427952	445	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3888855 rs570427952	445	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA364703973 rs1562289640	448	Q>H		No	ClinGen Ensembl
rs976907040 CA140919537	450	P>R		No	ClinGen TOPMed gnomAD
rs924697459 CA140919544	450	P>S		No	ClinGen TOPMed gnomAD
CA3888851 rs200818241	452	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3888850 rs759563628	454	Q>*		No	ClinGen ExAC gnomAD
CA3888849 rs774436118	456	D>E		No	ClinGen ExAC gnomAD
rs1031745357 CA140919520	457	R>C		No	ClinGen TOPMed gnomAD
CA140919518 rs968744350	457	R>L		No	ClinGen Ensembl
CA140919517 rs975717163	458	K>*		No	ClinGen TOPMed gnomAD
CA364703908 rs975717163	458	K>E		No	ClinGen TOPMed gnomAD
CA3888846 rs746885325	462	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1582647332 CA364703868	464	F>L		No	ClinGen Ensembl
CA3888844 rs747885400	464	F>L		No	ClinGen ExAC gnomAD
rs1192897199 CA364703843	467	C>F		No	ClinGen gnomAD
CA3888842 rs551846495	467	C>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1192897199 CA364703844	467	C>Y		No	ClinGen gnomAD
CA364703840 rs779657218	468	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3888840 rs779657218	468	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1467655080 CA364703780	472	L>H		No	ClinGen TOPMed
CA3888835 rs756968288	474	C>*		No	ClinGen ExAC TOPMed gnomAD
rs778913574 CA3888836	474	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1276816495 CA364703697	477	T>I		No	ClinGen gnomAD
rs1327079970 CA364703685	478	E>G		No	ClinGen gnomAD
TCGA novel	479	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA364703608 rs1234011055	483	Y>D		No	ClinGen TOPMed
rs138984002 CA3888834	483	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA140919392 rs895735379	485	I>F		No	ClinGen TOPMed gnomAD
CA3888833 rs767651417	486	P>A		No	ClinGen ExAC gnomAD
CA364703555 rs1211647911	486	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA364703500 rs1462781567	489	N>S		No	ClinGen gnomAD
CA364703505 rs1165928919	489	N>Y		No	ClinGen gnomAD
rs766441481 CA3888830	493	S>G		No	ClinGen ExAC gnomAD
CA364703434 rs1475721740	493	S>I		No	ClinGen gnomAD
rs763507557 CA3888829	495	L>I		No	ClinGen ExAC gnomAD
rs773685659 CA3888828	497	D>Y		No	ClinGen ExAC gnomAD
COSM3430862 rs1206488804 CA364703368	499	R>I	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA364703351 rs311678 CA364703350	501	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1449920881 CA364703340	503	F>L		No	ClinGen TOPMed
rs1215213174 CA364703314	505	T>A		No	ClinGen TOPMed gnomAD
rs974303140 CA140919330	507	Q>*		No	ClinGen Ensembl
CA827927299 rs1434791944	509	E>D		No	ClinGen TOPMed
CA140919328 rs777006094	509	E>D		No	ClinGen ExAC gnomAD
rs1429018382 CA364703218	511	E>A		No	ClinGen gnomAD
rs768207867 CA3888824	512	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs529824524 CA3888822	514	N>S		No	ClinGen 1000Genomes ExAC gnomAD

No associated diseases with Q8N884

2 regional properties for Q8N884

Type	Name	Position	InterPro Accession
domain	Mab-21-like, nucleotidyltransferase domain	214 - 389	IPR046903
domain	Mab-21-like, HhH/H2TH-like domain	405 - 509	IPR046906

Functions

		Description
EC Number	2.7.7.86	Nucleotidyltransferases
Subcellular Localization	Nucleus Chromosome Cell membrane ; Peripheral membrane protein Cytoplasm, cytosol	Mainly localizes in the nucleus, and at low level in the cytosol (PubMed:31544964, PubMed:31808743) On chromosomes, enriched on centromeric satellite and LINE DNA repeat elements (PubMed:30811988) Exported from the nucleus to the cytosol in a XPO1/CRM1 via the nuclear export signal in response to DNA stimulation (PubMed:33406424) Outside the nucleus, localizes at the cell membrane as a peripheral membrane protein in resting conditions: association to the cell membrane is mediated via binding to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) (PubMed:30827685) Localization at the cell membrane is required to limit the recognition of self-DNA (PubMed:30827685) Following detection of double-stranded DNA (dsDNA), released from the cell membrane into the cytosol in order to signal (PubMed:30827685) Upon transfection with dsDNA forms punctate structures that co-localize with DNA and Beclin-1 (BECN1) (PubMed:26048138) Phosphorylation at Tyr-215 promotes cytosolic retention (PubMed:30356214) In response to translation stress, translocates to the cytosol and associates with collided ribosomes (PubMed:34111399)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
site of double-strand break	A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix.

12 GO annotations of molecular function

Name	Definition
2',3'-cyclic GMP-AMP synthase activity	Catalysis of the reaction: ATP + GTP = 2 diphosphate + cyclic G-P(2'-5')A-P(3'-5') (cyclic 2',3' GAMP).
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
double-stranded DNA binding	Binding to double-stranded DNA.
GTP binding	Binding to GTP, guanosine triphosphate.
metal ion binding	Binding to a metal ion.
molecular condensate scaffold activity	Binding and bringing together two or more macromolecules in contact, permitting those molecules to organize as a molecular condensate.
nucleosome binding	Binding to a nucleosome, a complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures.
phosphatidylinositol-4,5-bisphosphate binding	Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions.
poly-ADP-D-ribose modification-dependent protein binding	Binding to a protein upon poly-ADP-ribosylation of the target protein.
protein homodimerization activity	Binding to an identical protein to form a homodimer.

16 GO annotations of biological process

Name	Definition
activation of innate immune response	Any process that initiates an innate immune response. Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. Examples of this process include activation of the hypersensitive response of Arabidopsis thaliana and activation of any NOD or TLR signaling pathway in vertebrate species.
cAMP-mediated signaling	Any intracellular signal transduction in which the signal is passed on within the cell via cyclic AMP (cAMP). Includes production of cAMP, and downstream effectors that further transmit the signal within the cell.
cellular response to DNA damage stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
cellular response to exogenous dsRNA	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an exogenous double-stranded RNA stimulus.
cGMP-mediated signaling	Any intracellular signal transduction in which the signal is passed on within the cell via cyclic GMP (cGMP). Includes production of cGMP, and downstream effectors that further transmit the signal within the cell.
defense response to virus	Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
determination of adult lifespan	The pathways that regulate the duration of the adult phase of the life-cycle of an animal.
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
negative regulation of double-strand break repair via homologous recombination	Any process that stops, prevents, or reduces the frequency, rate or extent of double-strand break repair via homologous recombination.
paracrine signaling	The transfer of information from one cell to another, where the signal travels from the signal-producing cell to the receiving cell by passive diffusion or bulk flow in intercellular fluid. The signaling cell and the receiving cell are usually in the vicinity of each other.
positive regulation of cellular senescence	Any process that activates or increases the frequency, rate or extent of cellular senescence.
positive regulation of defense response to virus by host	Any host process that results in the promotion of antiviral immune response mechanisms, thereby limiting viral replication.
positive regulation of type I interferon production	Any process that activates or increases the frequency, rate, or extent of type I interferon production. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families.
regulation of immunoglobulin production	Any process that modulates the frequency, rate, or extent of immunoglobulin production.
regulation of T cell activation	Any process that modulates the frequency, rate or extent of T cell activation.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
E1BGN7	CGAS	Cyclic GMP-AMP synthase	Bos taurus (Bovine)	PR
Q8C525	Mb21d2	Nucleotidyltransferase MB21D2	Mus musculus (Mouse)	PR
Q8C6L5	Cgas	Cyclic GMP-AMP synthase	Mus musculus (Mouse)	PR
I3LM39	CGAS	Cyclic GMP-AMP synthase	Sus scrofa (Pig)	PR

10	20	30	40	50	60
MQPWHGKAMQ	RASEAGATAP	KASARNARGA	PMDPTESPAA	PEAALPKAGK	FGPARKSGSR
70	80	90	100	110	120
QKKSAPDTQE	RPPVRATGAR	AKKAPQRAQD	TQPSDATSAP	GAEGLEPPAA	REPALSRAGS
130	140	150	160	170	180
CRQRGARCST	KPRPPPGPWD	VPSPGLPVSA	PILVRRDAAP	GASKLRAVLE	KLKLSRDDIS
190	200	210	220	230	240
TAAGMVKGVV	DHLLLRLKCD	SAFRGVGLLN	TGSYYEHVKI	SAPNEFDVMF	KLEVPRIQLE
250	260	270	280	290	300
EYSNTRAYYF	VKFKRNPKEN	PLSQFLEGEI	LSASKMLSKF	RKIIKEEIND	IKDTDVIMKR
310	320	330	340	350	360
KRGGSPAVTL	LISEKISVDI	TLALESKSSW	PASTQEGLRI	QNWLSAKVRK	QLRLKPFYLV
370	380	390	400	410	420
PKHAKEGNGF	QEETWRLSFS	HIEKEILNNH	GKSKTCCENK	EEKCCRKDCL	KLMKYLLEQL
430	440	450	460	470	480
KERFKDKKHL	DKFSSYHVKT	AFFHVCTQNP	QDSQWDRKDL	GLCFDNCVTY	FLQCLRTEKL
490	500	510	520
ENYFIPEFNL	FSSNLIDKRS	KEFLTKQIEY	ERNNEFPVFD	EF