AiPD: Autoinhibited Protein Database

Q8WXF8

Gene name	DEDD2 (FLAME3, PSEC0004)
Protein name	DNA-binding death effector domain-containing protein 2
Names	DED-containing protein FLAME-3, FADD-like anti-apoptotic molecule 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:162989
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

81-156 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

81-156 (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 Q8WXF8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8WXF8-F1	Predicted				AlphaFoldDB

305 variants for Q8WXF8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1304456244 CA406074607	2	A>V		No	ClinGen TOPMed
CA9470292 rs778931873	5	G>E		No	ClinGen ExAC gnomAD
rs1371961032 CA406074585	6	S>L		No	ClinGen TOPMed gnomAD
CA406074586 rs1371961032	6	S>W		No	ClinGen TOPMed gnomAD
CA406074579 rs1303025084	7	T>I		No	ClinGen gnomAD
rs756717788 CA9470291	8	P>L		No	ClinGen ExAC gnomAD
rs924362127 CA308616155	8	P>S		No	ClinGen TOPMed
CA308616152 rs7257170	9	A>P		No	ClinGen gnomAD
rs7257170 CA406074574	9	A>T		No	ClinGen gnomAD
rs753388225 CA9470290	9	A>V		No	ClinGen ExAC gnomAD
rs777384697 CA406074566	10	P>L		No	ClinGen ExAC gnomAD
rs777384697 CA406074567	10	P>Q		No	ClinGen ExAC gnomAD
rs777384697 CA9470289	10	P>R		No	ClinGen ExAC gnomAD
CA308616109 rs984752431	12	W>L		No	ClinGen TOPMed
CA308616116 rs968440703	12	W>R		No	ClinGen Ensembl
rs1021332558 CA308616107	15	D>G		No	ClinGen Ensembl
CA406074515 rs1395298999	17	C>Y		No	ClinGen gnomAD
rs1252001191 CA406074508	18	L>Q		No	ClinGen gnomAD
CA406074483 rs765872232 CA9470283	21	Y>*		No	ClinGen ExAC gnomAD
rs1250300480 CA406074485	21	Y>C		No	ClinGen gnomAD
rs780377847 CA308616075 CA406074482	22	G>R		No	ClinGen gnomAD
CA406074473 rs1599792271	23	M>T		No	ClinGen Ensembl
rs1280069383 CA406074466	24	L>Q		No	ClinGen TOPMed gnomAD
CA308616074 rs181792506	25	S>P		No	ClinGen 1000Genomes
CA406074456 rs1318977771	26	L>F		No	ClinGen gnomAD
CA406074453 rs1258242373	26	L>H		No	ClinGen TOPMed
rs1307764648 CA406074452	27	H>N		No	ClinGen gnomAD
CA406074441 rs1568457274	28	R>C		No	ClinGen Ensembl
CA9470282 rs200635438	28	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1306171812 CA406074431	29	M>I		No	ClinGen gnomAD
CA406074436 CA9470281 rs373486854	29	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1441768610 CA406074434	29	M>T		No	ClinGen TOPMed
CA9470280 rs373486854	29	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs34087334 CA9470279	30	F>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1375768199 CA406074420	31	E>*		No	ClinGen gnomAD
CA406074408 rs1171817552	33	V>M		No	ClinGen gnomAD
rs1599792022 CA406074396	35	G>R		No	ClinGen Ensembl
CA9470277 rs775784972	35	G>V		No	ClinGen ExAC
CA406074384 rs1365234235	36	Q>H		No	ClinGen TOPMed gnomAD
rs771715406 CA9470276	37	L>M		No	ClinGen ExAC gnomAD
rs1178182312 CA406074367	39	E>D		No	ClinGen TOPMed
rs1249001109 CA406074372	39	E>Q		No	ClinGen gnomAD
rs140256906 CA308616003	41	E>D		No	ClinGen ESP gnomAD
CA406074349 rs147223526	42	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1424013451 CA406074287	51	E>D		No	ClinGen TOPMed gnomAD
CA9470270 rs755629802	52	A>G		No	ClinGen ExAC gnomAD
rs752237952 CA9470269	53	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA406074278 rs1327096926	53	P>S		No	ClinGen gnomAD
CA406074275 rs1366100570	54	G>S		No	ClinGen TOPMed gnomAD
rs1330201397 CA406074261	56	A>T		No	ClinGen TOPMed
rs1235021153 CA406074248	58	G>V		No	ClinGen gnomAD
rs555060253 CA308615962	60	A>S		No	ClinGen Ensembl
rs555060253 CA308615963	60	A>T		No	ClinGen Ensembl
CA9470267 rs758646116	61	R>L		No	ClinGen ExAC TOPMed gnomAD
CA308615942 rs574149749	62	A>V		No	ClinGen gnomAD
rs1386678842 CA406074223	63	R>G		No	ClinGen gnomAD
rs1456381648 CA406074218	64	S>G		No	ClinGen gnomAD
rs765815128 CA9470265	64	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1166494367 CA406074205	66	L>V		No	ClinGen TOPMed gnomAD
rs757895304 CA9470264	67	E>A		No	ClinGen ExAC gnomAD
rs753962035 CA308615901	67	E>D		No	ClinGen ExAC TOPMed gnomAD
CA308615919 rs746634434	67	E>Q		No	ClinGen Ensembl
rs767822407 CA9470259	71	E>G		No	ClinGen ExAC gnomAD
TCGA novel	75	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1432521453 CA406074118	80	E>K		No	ClinGen TOPMed
CA406074109 rs1335361614	81	S>G		No	ClinGen gnomAD
CA9470255 rs749160688	84	R>P		No	ClinGen ExAC
CA406074088 rs1171219660	84	R>W		No	ClinGen TOPMed
CA9470253 rs769249269	87	G>E		No	ClinGen ExAC gnomAD
CA9470254 rs773149922	87	G>W		No	ClinGen ExAC gnomAD
CA406073940 rs1461567972	89	L>V		No	ClinGen gnomAD
rs1011859415 CA308615825	91	R>H		No	ClinGen TOPMed
CA308615820 rs780674165 CA9470251	92	V>L		No	ClinGen ExAC gnomAD
CA308615822 rs780674165	92	V>M		No	ClinGen ExAC gnomAD
rs947154147 CA406073913	94	A>G		No	ClinGen gnomAD
rs561900883 CA9470250	94	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs947154147 CA308615819	94	A>V		No	ClinGen gnomAD
rs746202718 CA9470249	95	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1451166732 CA406073909	95	R>H		No	ClinGen gnomAD
CA406073905 rs1287832742	96	H>D		No	ClinGen gnomAD
TCGA novel	96	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1287832742 CA406073904	96	H>Y		No	ClinGen gnomAD
rs757699226 CA9470247	98	L>M		No	ClinGen ExAC TOPMed gnomAD
CA9470244 rs756116350	100	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9470245 rs764728625	100	P>S		No	ClinGen ExAC TOPMed gnomAD
rs866306268 CA308615737	102	L>M		No	ClinGen gnomAD
rs1366202350 CA406073867	102	L>P		No	ClinGen TOPMed
rs767618714 CA9470242	103	A>E		No	ClinGen ExAC TOPMed gnomAD
CA406073865 rs1386716693	103	A>T		No	ClinGen TOPMed
rs767618714 CA9470243	103	A>V		No	ClinGen ExAC TOPMed gnomAD
rs756221135 CA308615730	104	R>L		No	ClinGen TOPMed gnomAD
CA406073846 rs1412087478	106	R>Q		No	ClinGen gnomAD
CA406073841 rs1168321498	107	R>C		No	ClinGen gnomAD
rs1397104549 CA406073834	108	R>Q		No	ClinGen gnomAD
CA406073836 rs1428301570	108	R>W		No	ClinGen TOPMed gnomAD
CA9470214 rs374131947	114	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1338232909 CA406073780	115	Y>C		No	ClinGen TOPMed
CA406073784 rs1419991839	115	Y>H		No	ClinGen gnomAD
rs927244890 CA308614709	116	S>C		No	ClinGen Ensembl
rs143705949 CA9470213	117	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs771898478 CA9470212	118	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1293225824 CA406073762	118	G>S		No	ClinGen TOPMed
rs778265442 CA9470210	119	T>A		No	ClinGen ExAC gnomAD
rs751670096 CA308614678	119	T>I		No	ClinGen gnomAD
rs778265442 CA406073756	119	T>P		No	ClinGen ExAC gnomAD
rs1206324123 CA406073749	120	S>C		No	ClinGen gnomAD
rs1314134947 CA406073744	121	S>I		No	ClinGen gnomAD
rs1314134947 CA406073742	121	S>N		No	ClinGen gnomAD
CA406073730 rs1228263187	123	S>*		No	ClinGen gnomAD
rs1268650135 CA406073732	123	S>P		No	ClinGen TOPMed
rs370765418 CA9470207	124	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA406073696 rs1475160009	128	G>A		No	ClinGen TOPMed
CA9470206 rs755041497	128	G>S		No	ClinGen ExAC gnomAD
CA9470205 rs751682682	129	S>N		No	ClinGen ExAC gnomAD
rs1174738814 CA406073685	130	C>G		No	ClinGen gnomAD
rs139696001 CA9470204 COSM3286933	131	R>C	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA9470203 rs758681161	131	R>H		No	ClinGen ExAC gnomAD
CA406073677 rs758681161	131	R>P		No	ClinGen ExAC gnomAD
CA308614644 rs376679587	132	R>C		No	ClinGen TOPMed gnomAD
CA9470202 rs750217130	132	R>H	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA308614631 rs1004718615	133	R>C		No	ClinGen gnomAD
rs535277377 CA9470201 COSM997256	133	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA406073668 rs535277377	133	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1027326776 CA308614611	134	R>Q		No	ClinGen TOPMed
rs761529337 CA9470200	134	R>W		No	ClinGen ExAC TOPMed gnomAD
CA406073654 rs1599786323	136	S>A		No	ClinGen Ensembl
rs763970497 CA9470196	137	S>R		No	ClinGen ExAC gnomAD
CA9470197 rs753761196	137	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1244459332 CA406073631	139	S>C		No	ClinGen TOPMed
rs367584450 CA308614606	141	N>D		No	ClinGen ESP
rs61744824 CA9470194	141	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9470193 rs771845080	142	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA9470192 rs114952292	143	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA406073593 rs1222702246	145	G>V		No	ClinGen TOPMed gnomAD
rs773886920 CA9470191	147	W>C		No	ClinGen ExAC gnomAD
CA9470176 rs767075878	151	S>F		No	ClinGen ExAC gnomAD
rs1599771967 CA406073372	151	S>P		No	ClinGen Ensembl
rs1568447720 CA406073352	152	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA9470172 rs200005635	153	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775992642 CA9470170	153	P>L		No	ClinGen ExAC TOPMed gnomAD
rs775992642 CA9470168	153	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs758890887	153	P>Q	Variant assessed as Somatic; 5.232e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA9470169 rs775992642	153	P>R		No	ClinGen ExAC TOPMed gnomAD
rs200005635 CA406073344	153	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200005635 CA9470171	153	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1431014334 CA406073333	154	T>A		No	ClinGen TOPMed gnomAD
rs772092731 CA9470165	154	T>I		No	ClinGen ExAC gnomAD
rs758890887	154	T>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1431014334 CA406073335	154	T>P		No	ClinGen TOPMed gnomAD
CA406073302 rs1193280301	156	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA308610886 rs990404281	156	R>W		No	ClinGen TOPMed gnomAD
rs562281617 CA406073278	158	R>G		No	ClinGen ExAC TOPMed gnomAD
rs779165604 CA9470163	158	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9470164 rs562281617	158	R>W		No	ClinGen ExAC TOPMed gnomAD
rs749103293 CA406073268	159	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9470161 rs749103293	159	R>Q	Variant assessed as Somatic; 5.169e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9470162 rs757478419	159	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9470160 rs777643370	160	S>G		No	ClinGen ExAC gnomAD
rs752630145 CA406073244	161	R>P		No	ClinGen ExAC gnomAD
rs752630145 CA9470158	161	R>Q		No	ClinGen ExAC gnomAD
rs755983904 CA9470159	161	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1289097973 CA406073232	162	G>D		No	ClinGen gnomAD
CA308610830 rs200922935	163	R>Q		No	ClinGen Ensembl
CA9470157 rs537426887	163	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA406073223 rs1349848009	164	P>R		No	ClinGen gnomAD
rs753251460	167	G>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA9470156 rs754504092	167	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA308610828 rs1023964661	168	A>T		No	ClinGen Ensembl
CA9470154 rs1004466006	168	A>V		No	ClinGen Ensembl
rs1402457398 CA406073166	169	R>G		No	ClinGen gnomAD
CA406073150 rs751075937	170	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9470153 rs751075937	170	R>W		No	ClinGen ExAC TOPMed gnomAD
rs765774423 CA9470150	171	R>P		No	ClinGen ExAC
CA308610809 rs1020841716	171	R>Q		No	ClinGen TOPMed gnomAD
rs762583652 CA9470151	171	R>W		No	ClinGen ExAC TOPMed gnomAD
rs372874604 CA9470148	172	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9470149 rs772926174	172	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1424700670 CA406073123	173	R>G		No	ClinGen gnomAD
rs775937719 CA9470146	175	A>P		No	ClinGen ExAC TOPMed gnomAD
CA406073086 rs775937719	175	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1466436975 CA406073061	176	P>L		No	ClinGen gnomAD
CA406073057 rs772607170	177	A>P		No	ClinGen ExAC TOPMed gnomAD
CA9470145 rs772607170	177	A>T		No	ClinGen ExAC TOPMed gnomAD
rs995478253 CA308610788	177	A>V		No	ClinGen TOPMed gnomAD
CA9470143 rs774361327	178	A>T		No	ClinGen ExAC TOPMed gnomAD
CA406073034 rs1246921616	178	A>V		No	ClinGen gnomAD
CA406073024 rs771045520	179	P>A		No	ClinGen ExAC gnomAD
CA9470141 rs749412518	179	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9470142 rs771045520	179	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA406073010 rs1399997877	180	Q>*		No	ClinGen TOPMed
CA9470140 rs778161376	180	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs944810154 CA308610768	181	Q>H		No	ClinGen gnomAD
CA406072994 rs1320606340	181	Q>K		No	ClinGen gnomAD
CA406072973 rs1385819514	182	Q>*		No	ClinGen gnomAD
rs769670210 CA9470139	182	Q>R		No	ClinGen ExAC gnomAD
CA406072908 rs1458893027	185	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs781250383 CA9470137	186	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9470136 rs754932129	186	A>V		No	ClinGen ExAC gnomAD
rs779367073 CA9470134	188	P>R		No	ClinGen ExAC gnomAD
CA9470135 rs142772067	188	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9470133 rs757943173	189	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA406072889 rs757943173	189	S>Y		No	ClinGen ExAC gnomAD
CA406072885 rs1452276748	190	S>P		No	ClinGen gnomAD
rs764903552 CA9470131	192	G>A		No	ClinGen ExAC TOPMed gnomAD
CA9470132 rs764903552	192	G>V		No	ClinGen ExAC TOPMed gnomAD
CA9470130 rs760997051	193	K>R		No	ClinGen ExAC TOPMed gnomAD
CA406072856 rs1356993699	195	T>A		No	ClinGen gnomAD
rs762915436 CA9470107	198	I>V		No	ClinGen ExAC gnomAD
CA406069798 rs1204222635	199	R>W		No	ClinGen gnomAD
CA9470106 rs534601512	201	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	202	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406069715 rs559002560	203	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA406069706 rs778456348	203	R>P		No	ClinGen TOPMed gnomAD
rs778456348 CA308604501	203	R>Q		No	ClinGen TOPMed gnomAD
rs149135613 CA406069583	207	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1280850885 CA406069591	207	C>Y		No	ClinGen gnomAD
rs1351700930 CA406069574	208	E>K		No	ClinGen TOPMed gnomAD
rs1351700930 CA406069570	208	E>Q		No	ClinGen TOPMed gnomAD
CA9470102 rs768289704	211	P>L		No	ClinGen ExAC gnomAD
CA406069426 rs1483902450	212	A>T		No	ClinGen TOPMed
TCGA novel	214	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406069267 rs1414150693	216	G>D		No	ClinGen gnomAD
CA308604497 rs908787517	216	G>S		No	ClinGen TOPMed gnomAD
CA9470098 rs745369299	220	R>Q		No	ClinGen ExAC gnomAD
CA308604492 rs910047380	221	R>Q		No	ClinGen TOPMed gnomAD
rs763772677 CA308604493	221	R>W		No	ClinGen Ensembl
rs1335594784 CA406069105	222	P>L		No	ClinGen TOPMed gnomAD
rs755264947 CA9470093	224	A>V		No	ClinGen ExAC TOPMed gnomAD
CA406068972 rs1344111303	227	R>Q		No	ClinGen TOPMed
rs1260685863 CA406068976	227	R>W		No	ClinGen gnomAD
rs765354075 CA406068849	231	V>L		No	ClinGen ExAC gnomAD
rs765354075 CA9470088	231	V>M		No	ClinGen ExAC gnomAD
CA406068793 rs1599747087	233	G>E		No	ClinGen Ensembl
TCGA novel	235	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	237	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406068596 rs1381742625	240	R>C		No	ClinGen TOPMed gnomAD
CA9470085 rs764418215	240	R>H		No	ClinGen ExAC gnomAD
CA406068619 rs1381742625	240	R>S		No	ClinGen TOPMed gnomAD
rs1162389109 CA406068563	241	S>A		No	ClinGen gnomAD
CA406068434 rs1270390894	246	S>A		No	ClinGen TOPMed
rs1205528679 CA406068357	248	V>A		No	ClinGen TOPMed
TCGA novel	252	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA308604444 rs967304925	253	F>V		No	ClinGen TOPMed
CA406068162 rs1599746883	255	E>D		No	ClinGen Ensembl
CA406068146 rs1388012710	256	L>P		No	ClinGen gnomAD
rs1457888370 CA406068156	256	L>V		No	ClinGen gnomAD
CA406068138 rs1200870641	257	S>T		No	ClinGen TOPMed
TCGA novel	258	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1398914635 CA406068088	259	L>M		No	ClinGen gnomAD
rs1599746805 CA406068041	261	A>T		No	ClinGen Ensembl
CA406067957 rs1472244823	263	W>*		No	ClinGen gnomAD
CA406067932 rs1175172125	264	G>V		No	ClinGen gnomAD
rs999390911 CA308604424	265	D>N		No	ClinGen TOPMed
rs777266738 CA9470077	266	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	267	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9470075 rs747326819	269	G>A		No	ClinGen ExAC TOPMed gnomAD
CA406067791 rs1290992337	270	A>T		No	ClinGen gnomAD
CA9470073 rs758851349	270	A>V		No	ClinGen ExAC gnomAD
CA406067732 rs1599746644	274	A>G		No	ClinGen Ensembl
CA406067715 rs1163243041	276	R>W		No	ClinGen TOPMed
CA406067706 rs1357533914	277	G>V		No	ClinGen gnomAD
CA406067690 rs1599746541	278	V>G		No	ClinGen Ensembl
CA308604407 rs996332716	278	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1599746526 CA406067686	279	F>V		No	ClinGen Ensembl
CA406067670 rs1324758792	281	T>I		No	ClinGen TOPMed
rs757381971 CA9470069	282	E>Q		No	ClinGen ExAC gnomAD
CA406067660 rs1326384381	283	A>S		No	ClinGen TOPMed
CA308604388 rs563883289	285	R>*		No	ClinGen 1000Genomes ExAC gnomAD
CA406067650 rs372748160	285	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs372748160 CA9470067	285	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs372748160 CA9470066	285	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA406067647 rs1423838259	286	E>*		No	ClinGen gnomAD
rs1423838259 CA406067648	286	E>K		No	ClinGen gnomAD
CA406067621 rs1449718841	290	R>P		No	ClinGen gnomAD
CA406067622 rs1449718841	290	R>Q		No	ClinGen gnomAD
rs767251131 CA9470064	290	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	293	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs940336601 CA308604367	293	V>I		No	ClinGen TOPMed
rs774239274 CA9470062	294	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9470061 rs376459217	294	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
TCGA novel	297	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406067470 rs1213657624	302	A>T		No	ClinGen TOPMed
rs1249964614 CA406067402	305	E>V		No	ClinGen TOPMed
rs1341783092 CA406067358	308	R>W		No	ClinGen gnomAD
rs772528209 CA9470055	309	R>C		No	ClinGen ExAC gnomAD
CA406067336 rs1221084504	309	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs746278607 CA9470054	310	R>C		No	ClinGen ExAC gnomAD
rs779540484 CA9470053	310	R>H		No	ClinGen ExAC TOPMed gnomAD
rs779540484 CA406067319	310	R>L		No	ClinGen ExAC TOPMed gnomAD
rs753860834 CA9470051	314	M>L		No	ClinGen ExAC gnomAD
CA308604308 rs545395414	314	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9470050 rs545395414	314	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149179344 CA9470049	318	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149179344 CA9470048	318	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767766303 CA9470047	319	G>E		No	ClinGen ExAC gnomAD
rs751410148 CA9470045	320	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs376232196 CA9470046	320	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1191081808 CA406067141	321	R>C		No	ClinGen TOPMed gnomAD
rs766298008 CA9470044	321	R>H		No	ClinGen ExAC TOPMed gnomAD
rs369972221 CA9470043	322	P>L		No	ClinGen ExAC TOPMed gnomAD
rs369972221 CA406067120	322	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1246627165 CA406067110	323	T>A		No	ClinGen TOPMed
CA9470041 rs769301022	324	E>D		No	ClinGen ExAC gnomAD
CA406067068 rs1408190310	325	A>V		No	ClinGen gnomAD
CA308604276 rs981429645	326	S>A		No	ClinGen TOPMed gnomAD

No associated diseases with Q8WXF8

1 regional properties for Q8WXF8

Type	Name	Position	InterPro Accession
domain	Death effector domain	24 - 108	IPR001875

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleolus	Nuclear, accumulated in subnuclear structures resembling nucleoli
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

2 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
signaling receptor complex adaptor activity	The binding activity of a molecule that provides a physical support for the assembly of a multiprotein receptor signaling complex.

8 GO annotations of biological process

Name	Definition
apoptotic nuclear changes	Alterations undergone by nuclei at the molecular and morphological level as part of the execution phase of apoptosis.
cellular homeostasis	Any process involved in the maintenance of an internal steady state at the level of the cell.
extrinsic apoptotic signaling pathway via death domain receptors	The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with a ligand binding to a death domain receptor on the cell surface, and ends when the execution phase of apoptosis is triggered.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of extrinsic apoptotic signaling pathway	Any process that activates or increases the frequency, rate or extent of extrinsic apoptotic signaling pathway.
RNA processing	Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules.
rRNA catabolic process	The chemical reactions and pathways resulting in the breakdown of rRNA, ribosomal RNA, a structural constituent of ribosomes.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O75618	DEDD	Death effector domain-containing protein	Homo sapiens (Human)	PR
Q9Z1L3	Dedd	Death effector domain-containing protein	Mus musculus (Mouse)	PR
Q9Z2K0	Dedd	Death effector domain-containing protein	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MALSGSTPAP	CWEEDECLDY	YGMLSLHRMF	EVVGGQLTEC	ELELLAFLLD	EAPGAAGGLA
70	80	90	100	110	120
RARSGLELLL	ELERRGQCDE	SNLRLLGQLL	RVLARHDLLP	HLARKRRRPV	SPERYSYGTS
130	140	150	160	170	180
SSSKRTEGSC	RRRRQSSSSA	NSQQGQWETG	SPPTKRQRRS	RGRPSGGARR	RRRGAPAAPQ
190	200	210	220	230	240
QQSEPARPSS	EGKVTCDIRL	RVRAEYCEHG	PALEQGVASR	RPQALARQLD	VFGQATAVLR
250	260	270	280	290	300
SRDLGSVVCD	IKFSELSYLD	AFWGDYLSGA	LLQALRGVFL	TEALREAVGR	EAVRLLVSVD
310	320
EADYEAGRRR	LLLMEEEGGR	RPTEAS