AiPD: Autoinhibited Protein Database

Q8TAD8

Gene name	SNIP1
Protein name	Smad nuclear-interacting protein 1
Names	FHA domain-containing protein SNIP1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79753
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

119-195 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

119-195 (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

9 structures for Q8TAD8

Entry ID	Method	Resolution	Chain	Position	Source
5Z56	EM	510 A	X	1-396	PDB
5Z57	EM	650 A	X	1-396	PDB
5Z58	EM	490 A	X	1-396	PDB
6FF7	EM	450 A	0	1-396	PDB
7ABG	EM	780 A	0	1-396	PDB
7ABH	EM	450 A	0	1-396	PDB
7ABI	EM	800 A	0	1-396	PDB
7DVQ	EM	289 A	X	1-396	PDB
AF-Q8TAD8-F1	Predicted				AlphaFoldDB

326 variants for Q8TAD8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA771417 rs200160575 RCV001836920 RCV000950897	58	S>R	Psychomotor retardation, epilepsy, and craniofacial dysmorphism [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002481593 RCV000655967 rs202020647 RCV001857031 CA771357	111	R>C	Childhood epilepsy with centrotemporal spikes Psychomotor retardation, epilepsy, and craniofacial dysmorphism [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001336126 rs1643118139	362	F>Y	Psychomotor retardation, epilepsy, and craniofacial dysmorphism [ClinVar]	Yes	ClinVar dbSNP
CA129414 RCV001219947 RCV002513201 VAR_067542 RCV000023695 rs387906986	366	E>G	Inborn genetic diseases Psychomotor retardation, epilepsy, and craniofacial dysmorphism NEDHCS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
CA339430181 rs1443545868	6	S>G		No	ClinGen TOPMed
rs771792939 CA771448	8	R>L		No	ClinGen ExAC TOPMed gnomAD
rs371875381 CA771449	8	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1570032783 CA339430162	9	E>Q		No	ClinGen Ensembl
rs1281786275 CA339430148	11	G>E		No	ClinGen gnomAD
CA339430150 CA771447 rs148377247	11	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1219148919 CA339430136	13	R>W		No	ClinGen gnomAD
rs1358231026 CA339430128	14	R>L		No	ClinGen gnomAD
CA339430110 rs1292118545	17	R>Q		No	ClinGen gnomAD
CA339430097 rs1426053204	19	G>A		No	ClinGen TOPMed
rs770551363 CA771445	19	G>R		No	ClinGen ExAC gnomAD
CA339430088 rs1172125241	20	D>E		No	ClinGen TOPMed
CA771444 rs142972500	20	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1294045207 CA339430085	21	V>L		No	ClinGen gnomAD
CA339430079 rs1382100256	22	V>L		No	ClinGen gnomAD
CA771442 rs769427485	25	A>G		No	ClinGen ExAC gnomAD
COSM680846 CA339430062 rs1290948112	25	A>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA339430064 rs1290948112	25	A>T		No	ClinGen gnomAD
CA771443 rs769427485	25	A>V		No	ClinGen ExAC gnomAD
rs747496092 CA771438	26	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781583580 CA771440	26	G>R		No	ClinGen ExAC gnomAD
rs747496092 CA771439	26	G>V		No	ClinGen ExAC TOPMed gnomAD
rs781583580 CA339430059	26	G>W		No	ClinGen ExAC gnomAD
CA771437 rs780595662	27	V>G		No	ClinGen ExAC gnomAD
CA339430048 rs917483871	28	V>A		No	ClinGen gnomAD
rs917483871 CA20795145	28	V>G		No	ClinGen gnomAD
CA339430034 rs1490136755	30	K>N		No	ClinGen gnomAD
CA339430028 rs1570032663	31	Q>R		No	ClinGen Ensembl
CA771434 rs765246787	32	E>A		No	ClinGen ExAC TOPMed gnomAD
rs757458483 CA771433	33	R>C		No	ClinGen ExAC gnomAD
CA771432 rs754045952	33	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1308577418 CA339430007	35	S>G		No	ClinGen gnomAD
rs137902870 CA771429 RCV000964695	35	S>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA339430000 rs1274966108	36	P>A		No	ClinGen TOPMed
rs1237079791 CA339429991	37	E>G		No	ClinGen TOPMed
CA339429990 rs1237079791 COSM535034	37	E>V	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA339429980 rs766348411	39	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs766348411 CA771428	39	A>T		No	ClinGen ExAC gnomAD
rs1345335145 CA339429977	39	A>V		No	ClinGen gnomAD
COSM1502670 CA20795111 rs1050240331	41	P>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA20795093 rs950442651	43	H>P		No	ClinGen Ensembl
CA771425 rs769221524	44	R>C		No	ClinGen ExAC gnomAD
CA339429950 rs1411002696	44	R>H		No	ClinGen TOPMed gnomAD
rs1462607966 CA339429946	45	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA20795074 rs747807844	45	R>L		No	ClinGen ExAC TOPMed gnomAD
CA771424 rs747807844	45	R>P		No	ClinGen ExAC TOPMed gnomAD
CA771421 rs747440469	46	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1247327052 CA339429938	46	P>L		No	ClinGen TOPMed
rs747440469 CA339429942	46	P>S		No	ClinGen ExAC TOPMed gnomAD
CA339429934 rs1479062933	47	D>G		No	ClinGen TOPMed
CA339429937 rs1570032571	47	D>N		No	ClinGen Ensembl
CA20795046 rs935844048	48	H>N		No	ClinGen Ensembl
rs1179801490 CA339429926	48	H>R		No	ClinGen gnomAD
CA771420 rs780403144	50	G>A		No	ClinGen ExAC gnomAD
rs369321132 CA20795041	50	G>R		No	ClinGen ESP TOPMed gnomAD
CA339429913 rs369321132	50	G>S		No	ClinGen ESP TOPMed gnomAD
rs1471377126 CA339429894	52	S>G		No	ClinGen TOPMed gnomAD
rs1249440457 CA339429888	52	S>I		No	ClinGen gnomAD
CA339429891 rs1249440457	52	S>N		No	ClinGen gnomAD
CA339429885 rs1195839314	52	S>R		No	ClinGen TOPMed gnomAD
CA339429882 rs1388088698	53	P>A		No	ClinGen TOPMed
CA20795032 rs758846712	53	P>L		No	ClinGen ExAC TOPMed gnomAD
CA771419 rs758846712	53	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA339429874 rs1186151977	54	S>T		No	ClinGen Ensembl
CA20795026 rs945993314	59	E>Q		No	ClinGen TOPMed gnomAD
rs1225762243 CA339429816	59	E>V		No	ClinGen gnomAD
CA339429800 rs1306614169	61	A>T		No	ClinGen gnomAD
rs1392033925 CA339429796	61	A>V		No	ClinGen gnomAD
rs754074059 CA771415	62	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1334809721 CA339429788	62	R>H		No	ClinGen TOPMed gnomAD
CA339429784 rs1334809721	62	R>L		No	ClinGen TOPMed gnomAD
CA339429780 rs1406759600	63	S>P		No	ClinGen gnomAD
CA339429767 rs1286896525	64	G>D		No	ClinGen TOPMed gnomAD
rs1178294864 CA339429759	65	H>Y		No	ClinGen gnomAD
CA771413 rs756409655	66	R>G		No	ClinGen ExAC gnomAD
CA771412 rs751340354	66	R>L		No	ClinGen ExAC gnomAD
TCGA novel	68	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762942265 CA771410	68	N>S		No	ClinGen ExAC gnomAD
CA339429718 rs1182476484	69	R>*		No	ClinGen gnomAD
CA339429720 rs1182476484	69	R>G		No	ClinGen gnomAD
CA20795008 rs1001226317	71	R>G		No	ClinGen TOPMed gnomAD
rs866431182 CA20795007	71	R>L		No	ClinGen gnomAD
rs866431182 CA339429698	71	R>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1570032421 CA339429676	73	V>G		No	ClinGen Ensembl
rs765154628 CA771390	78	P>A		No	ClinGen ExAC gnomAD
TCGA novel	83	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1570031095 CA339429430	88	R>S		No	ClinGen Ensembl
TCGA novel	89	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA20794380 rs781500306	90	K>T		No	ClinGen TOPMed gnomAD
CA339429392 rs1320163946	91	S>C		No	ClinGen gnomAD
CA771387 rs753291513	91	S>T		No	ClinGen ExAC gnomAD
rs763619535 CA771386	92	P>L		No	ClinGen ExAC gnomAD
CA771385 rs760283604	93	R>C		No	ClinGen ExAC TOPMed gnomAD
CA771384 rs775168859	93	R>H		No	ClinGen ExAC gnomAD
rs760283604 CA20794348	93	R>S		No	ClinGen ExAC TOPMed gnomAD
CA20794331 rs986883922	95	K>E		No	ClinGen TOPMed
rs1026899786 CA20794321	98	R>*		No	ClinGen gnomAD
rs759880647 CA771382	98	R>P		No	ClinGen ExAC gnomAD
CA339429272 rs759880647	98	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA339429256 rs1194170783	100	P>T		No	ClinGen gnomAD
CA339429240 rs1570031024	101	H>R		No	ClinGen Ensembl
CA20794300 rs994789666	102	H>Q		No	ClinGen TOPMed
CA771380 rs771284119	104	T>A		No	ClinGen ExAC TOPMed gnomAD
rs749823878 CA771379	106	K>R		No	ClinGen ExAC gnomAD
CA339429175 rs1276594107	107	V>A		No	ClinGen Ensembl
CA771377 rs777958316	107	V>L		No	ClinGen ExAC
rs770031288 CA771376	108	K>M		No	ClinGen ExAC gnomAD
rs1233463624 CA339453025	110	E>G		No	ClinGen gnomAD
CA771356 rs41267307 RCV000791270 RCV002535838	111	R>H		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs749194245 CA771358	112	E>*		No	ClinGen ExAC
CA771354 rs140026823	113	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA771355 rs776856243	113	D>Y		No	ClinGen ExAC gnomAD
rs1313795550 CA339452970	114	H>D		No	ClinGen gnomAD
CA771353 rs201599338	115	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs139950676 CA20809272	116	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs80144754 RCV000946356 CA771351	116	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs139950676 CA771352	116	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749207872 CA771350	117	R>G		No	ClinGen ExAC gnomAD
rs202019009 CA20809241	117	R>K		No	ClinGen Ensembl
CA771348 rs756047349	119	R>Q		No	ClinGen ExAC gnomAD
rs777752199 CA771349	119	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1157379746 CA339452884	121	D>Y		No	ClinGen TOPMed gnomAD
CA771347 rs370698062	122	R>G		No	ClinGen ESP ExAC gnomAD
CA20809219 rs767076459	122	R>L		No	ClinGen ExAC TOPMed gnomAD
rs767076459 CA771346	122	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA339452874 rs370698062	122	R>W		No	ClinGen ESP ExAC gnomAD
CA339452852 rs1160513110	124	H>D		No	ClinGen gnomAD
CA339452830 rs1298394304	125	R>S		No	ClinGen gnomAD
rs139684851 CA20809207	126	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA771344 rs751263657	127	P>L		No	ClinGen ExAC gnomAD
CA339452811 rs1242436827	127	P>S		No	ClinGen gnomAD
TCGA novel	131	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339452726 rs1484194941	132	H>N		No	ClinGen gnomAD
CA771341 rs187847428	132	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA771342 rs763471355	132	H>R		No	ClinGen ExAC gnomAD
CA771340 rs765774225	133	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1242847942 CA339452680	133	R>S		No	ClinGen TOPMed
rs200588569 CA20809175	134	R>G		No	ClinGen 1000Genomes
CA771339 rs762423495	135	A>P		No	ClinGen ExAC TOPMed gnomAD
CA20809157 rs947375646	136	R>K		No	ClinGen TOPMed gnomAD
CA771338 rs776528301	138	S>G		No	ClinGen ExAC TOPMed gnomAD
CA771337 rs768814510	139	D>E		No	ClinGen ExAC gnomAD
rs148010458 CA771336	140	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1667420 CA20809151 rs1008679610	140	R>W	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs770623952 CA771334	142	R>K		No	ClinGen ExAC gnomAD
rs540812532 CA771333	143	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1422988072 CA339452448	144	R>Q		No	ClinGen TOPMed gnomAD
COSM167394 CA771332 rs143428642	144	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	145	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755996434 CA771331	145	G>C		No	ClinGen ExAC gnomAD
rs748115092 CA771330	146	H>Y		No	ClinGen ExAC gnomAD
rs1425435996 CA339452371	149	Q>R		No	ClinGen gnomAD
CA20809122 rs945644219	150	R>G		No	ClinGen Ensembl
rs780535249 CA771329	152	T>A		No	ClinGen ExAC gnomAD
CA771328 rs754563990	152	T>M		No	ClinGen ExAC gnomAD
rs1490085924 CA339452235	155	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1291817747 CA339452163	158	G>R		No	ClinGen gnomAD
TCGA novel	161	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs538745308 CA771323	162	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs926297230 CA20809063	162	G>D		No	ClinGen gnomAD
rs538745308 CA771322	162	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1280491819 CA339451998	165	R>Q		No	ClinGen gnomAD
rs764062388 CA771320	165	R>W		No	ClinGen ExAC TOPMed gnomAD
CA339451943 rs1403289749	167	R>*		No	ClinGen gnomAD
rs760872087 CA771319	167	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA339451917 rs1553165756	168	D>V		No	ClinGen Ensembl
rs1202288533 CA339451876	170	Q>H		No	ClinGen TOPMed
rs775433958 CA771318	170	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA339451835 rs1352683124	173	Q>E		No	ClinGen gnomAD
rs1553165755 CA339451821	174	A>T		No	ClinGen Ensembl
RCV000981741 CA771316 rs147613529	174	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs772951239 CA771315	176	E>K		No	ClinGen ExAC gnomAD
rs769616281 CA771314	178	E>D		No	ClinGen ExAC gnomAD
CA771312 rs781247363	179	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs748011457 CA771313	179	R>W		No	ClinGen ExAC gnomAD
rs190980083 CA339451680	180	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA339451689 rs1192402031	180	E>G		No	ClinGen gnomAD
CA771311 rs556218762	180	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1570019076 CA339451675	181	F>V		No	ClinGen Ensembl
rs779443322 CA771309	182	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA339451641 rs779443322	182	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA339451629 rs995285439	183	N>D		No	ClinGen TOPMed
rs995285439 CA20808955	183	N>H		No	ClinGen TOPMed
rs1237235034 CA339451568	186	R>*		No	ClinGen gnomAD
rs144543121 CA771308	186	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA771306 rs533988405	187	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000417531 CA771307 rs186332019	187	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs757748265 CA771305	188	E>K		No	ClinGen ExAC TOPMed gnomAD
CA339451524 rs1388576681	189	H>D		No	ClinGen gnomAD
rs181996868 RCV000945388 CA771304	190	R>C		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs57392277 CA339451497	190	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs57392277 CA339451494	190	R>L		No	ClinGen gnomAD
rs57392277 CA20808920	190	R>P		No	ClinGen gnomAD
TCGA novel	192	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs61745973 CA771303 RCV000945383	193	N>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA771300 rs113100619 COSM3771753	195	V>G	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA771301 rs752770000	195	V>I		No	ClinGen ExAC TOPMed gnomAD
CA339451387 rs1429552960	196	G>S		No	ClinGen gnomAD
rs759723671 CA771299	197	G>V		No	ClinGen ExAC TOPMed gnomAD
CA20808903 rs900696100	199	G>D		No	ClinGen TOPMed
CA771296 rs766499841	199	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1043862978 CA20808901	200	S>I		No	ClinGen TOPMed gnomAD
CA339451308 rs1043862978	200	S>T		No	ClinGen TOPMed gnomAD
rs1265682493 CA339451249	201	E>A		No	ClinGen TOPMed
rs1010113067 CA20808887	202	S>Y		No	ClinGen TOPMed
rs148711417 CA771294	203	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1323345650 CA339451001	207	P>L		No	ClinGen gnomAD
CA771292 rs779675488	208	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA771293 rs746942786	208	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA771291 rs771753016	211	G>C		No	ClinGen ExAC gnomAD
rs745495101 CA771290	211	G>D		No	ClinGen ExAC gnomAD
CA20808875 rs866122469	215	E>K		No	ClinGen Ensembl
rs1334697263 CA339450532	219	P>H		No	ClinGen gnomAD
CA771286 rs754170290	220	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	222	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA20808865 rs1044777325	224	P>R		No	ClinGen TOPMed gnomAD
CA771285 rs778017359	224	P>S		No	ClinGen ExAC gnomAD
rs562670069 CA771284	225	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs753184226 CA771283	229	S>T		No	ClinGen ExAC gnomAD
rs1420105855 CA339450149	230	G>R		No	ClinGen TOPMed
CA771282 rs767561966	231	A>V		No	ClinGen ExAC gnomAD
CA20808849 rs564378961	232	L>V		No	ClinGen Ensembl
CA339450079 rs1160051292	233	L>I		No	ClinGen TOPMed
CA339450013 rs1363401630	235	D>G		No	ClinGen TOPMed
CA339449981 rs1182220392	236	T>I		No	ClinGen gnomAD
rs759668451 CA771280	237	N>S		No	ClinGen ExAC gnomAD
rs1403785760 CA339449943	238	T>A		No	ClinGen TOPMed
CA339449925 rs1202570916	238	T>I		No	ClinGen gnomAD
CA339449866 rs1260406513	240	R>Q		No	ClinGen TOPMed gnomAD
rs375133551 CA771279	240	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA771278 rs766523394	242	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	248	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557624941 CA339449540	250	P>L		No	ClinGen Ensembl
rs1245102497 CA339449497	252	A>V		No	ClinGen gnomAD
CA20808811 rs746110236 COSM909004	253	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs144503529 CA771275	253	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA339449468 rs144503529	253	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs760633721 CA771274	255	P>T		No	ClinGen ExAC gnomAD
rs775622304 CA771273	256	K>Q		No	ClinGen ExAC gnomAD
CA339449398 rs771698007	257	K>I		No	ClinGen ExAC gnomAD
rs771698007 CA771272	257	K>T		No	ClinGen ExAC gnomAD
rs1421149316 CA339449320	261	L>F		No	ClinGen gnomAD
CA339449296 rs1363089040	262	Y>F		No	ClinGen gnomAD
rs774008801 CA771270	265	K>R		No	ClinGen ExAC gnomAD
CA20808782 rs750675550	266	N>H		No	ClinGen Ensembl
rs1369599238 CA339449152	269	V>L		No	ClinGen TOPMed gnomAD
CA339449153 rs1369599238	269	V>M		No	ClinGen TOPMed gnomAD
CA771268 rs748921035	272	V>G		No	ClinGen ExAC gnomAD
CA339449013 rs1261284138	275	I>M		No	ClinGen gnomAD
rs778167341 CA771267	275	I>V		No	ClinGen ExAC TOPMed gnomAD
CA771266 rs756484398	277	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA339448981 rs1289618299	277	R>Q		No	ClinGen gnomAD
rs1570018649 CA339448901	281	Y>S		No	ClinGen Ensembl
rs1285952517 CA339448823	286	H>Q		No	ClinGen TOPMed gnomAD
CA771264 rs781712609	287	R>C		No	ClinGen ExAC TOPMed gnomAD
rs755481425 CA771263	287	R>H		No	ClinGen ExAC gnomAD
rs1278612134 CA339448803	288	R>C		No	ClinGen TOPMed gnomAD
CA771262 rs751582496	288	R>H		No	ClinGen ExAC gnomAD
rs751582496 CA339448792	288	R>L		No	ClinGen ExAC gnomAD
rs766469835 CA771261	292	I>V		No	ClinGen ExAC gnomAD
CA771260 rs758606811	293	P>R		No	ClinGen ExAC gnomAD
rs760446970 CA771258	294	I>L		No	ClinGen ExAC TOPMed gnomAD
CA771256 rs775567238	294	I>T		No	ClinGen ExAC TOPMed gnomAD
rs760446970 CA771257	294	I>V		No	ClinGen ExAC TOPMed gnomAD
CA771255 rs767501231	295	D>G		No	ClinGen ExAC gnomAD
rs1383171104 CA339448640	295	D>H		No	ClinGen TOPMed
rs1478911110 CA339448578	297	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	302	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339448403 rs1198779795	304	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1292133891 CA339448399	305	V>I		No	ClinGen gnomAD
rs150740046 CA771250	309	R>L		No	ClinGen ESP ExAC gnomAD
rs150740046 CA339448302	309	R>Q		No	ClinGen ESP ExAC gnomAD
CA339448306 rs1407759773	309	R>W		No	ClinGen TOPMed
CA20807635 rs767376968	310	L>F		No	ClinGen gnomAD
rs1404281365 CA339446126	311	V>L		No	ClinGen gnomAD
CA771229 rs765899557	315	R>C		No	ClinGen ExAC gnomAD
COSM1342385 CA339446022 rs1415206280	315	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1415206280 CA339446023	315	R>P		No	ClinGen gnomAD
CA771228 rs762435074	316	A>G		No	ClinGen ExAC gnomAD
CA771226 rs371679615	320	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA771227 rs371679615	320	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1163310259 CA339445897	321	G>S		No	ClinGen TOPMed gnomAD
CA339445883 rs1251494130	321	G>V		No	ClinGen TOPMed
CA771225 rs761477965 COSM164504	322	R>Q	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	326	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA771223 rs769049153	328	I>V		No	ClinGen ExAC TOPMed gnomAD
rs759326485 CA20807585	329	I>T		No	ClinGen TOPMed gnomAD
TCGA novel	332	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747495974 CA771222	333	S>L		No	ClinGen ExAC gnomAD
rs1281786940 CA339445243	343	R>C		No	ClinGen TOPMed gnomAD
CA339445208 rs1238770240	345	E>Q		No	ClinGen gnomAD
CA20807582 rs368571136	349	Y>H		No	ClinGen ESP
CA771220 rs772192233	350	Y>H		No	ClinGen ExAC gnomAD
CA771219 rs745872132	351	E>G		No	ClinGen ExAC gnomAD
CA339444824 COSM1342384 rs1413120174	359	K>R	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA339444384 rs1570016198	366	E>D		No	ClinGen Ensembl
TCGA novel	366	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1361112535 CA339444339	368	V>I		No	ClinGen TOPMed gnomAD
rs1181969412 CA339444289	370	L>F		No	ClinGen gnomAD
CA771218 rs779068654	371	H>R		No	ClinGen ExAC gnomAD
rs61755314 CA771217	373	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs781109084 CA771215	374	S>A		No	ClinGen ExAC gnomAD
rs1041174049 CA20807568	374	S>L		No	ClinGen TOPMed
TCGA novel	374	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA339444070 rs1413027719	375	D>N		No	ClinGen gnomAD
CA339444028 rs1182223894	376	T>A		No	ClinGen gnomAD
rs1448312612 CA339444024	376	T>I		No	ClinGen Ensembl
rs1473687359 CA339443991	378	E>K		No	ClinGen gnomAD
CA20807563 rs866874156	379	I>L		No	ClinGen Ensembl
rs372672826 CA771210	382	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA771209 rs143680314	383	D>G		No	ClinGen ESP ExAC gnomAD
CA339443730 rs1557623822	385	E>K		No	ClinGen Ensembl
RCV000238913 CA771207 rs368368736 RCV001854926	386	D>E		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs146974230 CA771208	386	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs950749390 CA20807543	387	E>D		No	ClinGen TOPMed gnomAD
rs1275445523 CA339443624	388	E>D		No	ClinGen TOPMed
rs1381724761 CA339443608	389	E>K		No	ClinGen gnomAD
rs1268794923 CA339443555	392	E>V		No	ClinGen TOPMed gnomAD
rs957964912 CA20807524	393	V>A		No	ClinGen TOPMed
CA339443547 rs1251310396	393	V>M		No	ClinGen TOPMed
rs1341391342 CA339443479	396	S>T		No	ClinGen TOPMed gnomAD
CA339443463 rs1268505309	397	S>Q		No	ClinGen gnomAD

1 associated diseases with Q8TAD8

[MIM: 614501]: Psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED)

A disease characterized by severe psychomotor retardation, intractable seizures, dysmorphic features, and a lumpy skull surface. Patients are hypotonic and have poor feeding in the neonatal period. {ECO:0000269|PubMed:22279524}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disease characterized by severe psychomotor retardation, intractable seizures, dysmorphic features, and a lumpy skull surface. Patients are hypotonic and have poor feeding in the neonatal period. {ECO:0000269|PubMed:22279524}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q8TAD8

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8TAD8

Functions

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

6 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.
spliceosomal complex	Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA.
U2 snRNP	A ribonucleoprotein complex that contains small nuclear RNA U2, a heptameric ring of Sm proteins, as well as several proteins that are unique to the U2 snRNP, most of which remain associated with the U2 snRNA both while the U2 snRNP is free or assembled into a series of spliceosomal complexes.
U2-type precatalytic spliceosome	A spliceosomal complex that is formed by the recruitment of the preassembled U4/U6.U5 tri-snRNP to the prespliceosome. Although all 5 snRNPs are present, the precatalytic spliceosome is catalytically inactive. The precatalytic spliceosome includes many proteins in addition to those found in the U1, U2 and U4/U6.U5 snRNPs.

2 GO annotations of molecular function

Name	Definition
mRNA binding	Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
RNA binding	Binding to an RNA molecule or a portion thereof.

5 GO annotations of biological process

Name	Definition
I-kappaB kinase/NF-kappaB signaling	The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription.
miRNA processing	A process leading to the generation of a functional miRNA. Includes the cleavage of stem-loop RNA precursors into microRNAs (miRNAs). miRNAs are a class of small RNAs that primarily silence genes by blocking the translation of mRNA transcripts into protein, or by increasing the degradation of non-protein-coding RNA transcripts.
mRNA splicing, via spliceosome	The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
U2-type prespliceosome assembly	The aggregation, arrangement and bonding together of a set of components to form an U2-type prespliceosome.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q07930	PML1	Pre-mRNA leakage protein 1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q8BIZ6	Snip1	Smad nuclear-interacting protein 1	Mus musculus (Mouse)	PR
Q8W4D8	DDL	FHA domain-containing protein DDL	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MKAVKSERER	GSRRRHRDGD	VVLPAGVVVK	QERLSPEVAP	PAHRRPDHSG	GSPSPPTSEP
70	80	90	100	110	120
ARSGHRGNRA	RGVSRSPPKK	KNKASGRRSK	SPRSKRNRSP	HHSTVKVKQE	REDHPRRGRE
130	140	150	160	170	180
DRQHREPSEQ	EHRRARNSDR	DRHRGHSHQR	RTSNERPGSG	QGQGRDRDTQ	NLQAQEEERE
190	200	210	220	230	240
FYNARRREHR	QRNDVGGGGS	ESQELVPRPG	GNNKEKEVPA	KEKPSFELSG	ALLEDTNTFR
250	260	270	280	290	300
GVVIKYSEPP	EARIPKKRWR	LYPFKNDEVL	PVMYIHRQSA	YLLGRHRRIA	DIPIDHPSCS
310	320	330	340	350	360
KQHAVFQYRL	VEYTRADGTV	GRRVKPYIID	LGSGNGTFLN	NKRIEPQRYY	ELKEKDVLKF
370	380	390
GFSSREYVLL	HESSDTSEID	RKDDEDEEEE	EEVSDS