AiPD: Autoinhibited Protein Database

Q15650

Gene name	TRIP4
Protein name	Activating signal cointegrator 1
Names	ASC-1, Thyroid receptor-interacting protein 4, TR-interacting protein 4, TRIP-4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9325
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

348-418 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

348-418 (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

3 structures for Q15650

Entry ID	Method	Resolution	Chain	Position	Source
2E5O	NMR	-	A	435-581	PDB
8ALZ	EM	340 A	A	1-581	PDB
AF-Q15650-F1	Predicted				AlphaFoldDB

486 variants for Q15650

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA353695 RCV000210281 rs869312827 COSM1678528	254	R>*	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue Spinal muscular atrophy with congenital bone fractures 1 [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs761865592 CA353694 RCV000210261 RCV000790985	278	R>*	Variant assessed as Somatic; 0.0 impact. Spinal muscular atrophy with congenital bone fractures 1 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000498698 rs147303485 CA7609502 RCV000989343	309	R>*	Spinal muscular atrophy with congenital bone fractures 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200549601 CA7609505 RCV000239524	317	R>Q	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001254724 rs1891833492	356	I>missing	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1891937835 RCV001171900 RCV002559647	401	K>R	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs764341782 RCV002546532 RCV002546531 CA7609665 RCV001332114	489	R>C	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1213006715 CA393193306	2	A>V		No	ClinGen TOPMed gnomAD
CA393193312 rs1206132747	3	V>A		No	ClinGen gnomAD
rs1206132747 CA393193313	3	V>G		No	ClinGen gnomAD
CA393193310 rs1462044821	3	V>L		No	ClinGen TOPMed gnomAD
CA393193315 rs1241760808	4	A>P		No	ClinGen TOPMed gnomAD
CA393193314 rs1241760808	4	A>T		No	ClinGen TOPMed gnomAD
rs753060339 CA7609264	4	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	5	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1242167961 CA393193330	6	A>V		No	ClinGen gnomAD
rs1040878226 CA271492298	7	V>A		No	ClinGen TOPMed gnomAD
rs1040878226 CA393193334	7	V>G		No	ClinGen TOPMed gnomAD
CA393193338 rs1422731390	8	S>A		No	ClinGen gnomAD
rs1271312942 CA393193340	8	S>C		No	ClinGen TOPMed
rs149273258 CA7609267	9	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA271492309 rs17525799 CA393193342	9	G>R		No	ClinGen gnomAD
CA7609268 rs757317724	10	E>*		No	ClinGen ExAC TOPMed gnomAD
rs1319124335 CA393193352	10	E>D		No	ClinGen gnomAD
CA393193346 rs757317724	10	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7609270 rs746056631	11	P>L		No	ClinGen ExAC gnomAD
CA393193356 rs746056631	11	P>R		No	ClinGen ExAC gnomAD
rs147496975 CA7609269	11	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs779735773 CA7609272	12	L>R		No	ClinGen ExAC TOPMed gnomAD
rs758579041 CA7609271	12	L>V		No	ClinGen ExAC gnomAD
CA393193364 rs1596331184	13	V>G		No	ClinGen Ensembl
CA393193367 rs1344982585	14	H>D		No	ClinGen gnomAD
rs560723106 CA271492323	14	H>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs560723106 CA393193370	14	H>R		No	ClinGen 1000Genomes TOPMed gnomAD
rs1344982585 CA393193368	14	H>Y		No	ClinGen gnomAD
rs1448208798 CA393193378	15	W>*		No	ClinGen gnomAD
CA393193387 rs1191082857	16	C>Y		No	ClinGen gnomAD
rs768479725 CA7609274	17	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1027313143 CA271492328	18	Q>K		No	ClinGen TOPMed gnomAD
rs1201256157 CA393193405	19	Q>P		No	ClinGen gnomAD
rs768797866 CA271492329	20	L>*		No	ClinGen TOPMed gnomAD
rs1334521717 CA393193419	21	R>P		No	ClinGen TOPMed
rs1159074876 CA393193417	21	R>W		No	ClinGen gnomAD
CA271492334 rs528003059	22	K>E		No	ClinGen 1000Genomes TOPMed gnomAD
CA393193455 rs1417863434	24	F>S		No	ClinGen gnomAD
rs1297849209 CA393193464	25	G>R		No	ClinGen gnomAD
rs951352009 CA271492337	27	D>G		No	ClinGen TOPMed
rs1406969178 CA393193485	27	D>H		No	ClinGen gnomAD
rs1281816101 CA393193501	28	V>G		No	ClinGen gnomAD
rs1330879443 CA393193527	30	E>G		No	ClinGen gnomAD
CA271492340 rs1013708577	32	I>F		No	ClinGen TOPMed
CA393193559 rs983007855	32	I>M		No	ClinGen TOPMed
rs1019418446 CA271492344	33	I>M		No	ClinGen TOPMed
rs1345203289 CA393193564	33	I>V		No	ClinGen Ensembl
CA393193572 rs1262954302	34	Q>K		No	ClinGen gnomAD
CA393193727 rs1162955205	35	Y>C		No	ClinGen gnomAD
rs377645266 CA7609288 COSM377872	36	V>I	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA7609290 rs780251632	37	L>F		No	ClinGen ExAC
rs758629931 CA7609289	37	L>W		No	ClinGen ExAC
rs773883052 CA271495342	38	S>*		No	ClinGen Ensembl
rs1300320888 CA393193743	38	S>A		No	ClinGen gnomAD
rs147321478 CA7609291	39	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs754785102 CA7609292	40	E>Q		No	ClinGen ExAC gnomAD
rs1337952547 CA393193760	41	S>G		No	ClinGen gnomAD
rs781034159 CA7609294	41	S>R		No	ClinGen ExAC gnomAD
CA7609296 rs777442960	44	E>A		No	ClinGen ExAC gnomAD
CA7609295 rs769810210	44	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs759174180 CA271495360	45	I>T		No	ClinGen Ensembl
CA393193787 rs1227658938	45	I>V		No	ClinGen gnomAD
CA7609298 rs553667435	46	R>*		No	ClinGen 1000Genomes ExAC gnomAD
rs202164400 CA7609300 COSM963935	46	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	47	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA271495378 rs371089439	47	E>D		No	ClinGen ESP TOPMed
CA7609301 rs760996093	48	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs111297650 CA271495388	50	T>A		No	ClinGen gnomAD
rs776939282 CA7609303	51	D>G		No	ClinGen ExAC gnomAD
rs769031210 CA7609302	51	D>N		No	ClinGen ExAC gnomAD
rs1429382393 CA393194210	52	L>F		No	ClinGen gnomAD
CA393194233 rs1422006742	53	L>R		No	ClinGen gnomAD
CA393194279 rs1177797366	56	N>K		No	ClinGen gnomAD
rs1265174903 CA393194287	57	E>K		No	ClinGen gnomAD
CA393194310 rs1204255780	58	G>D		No	ClinGen gnomAD
rs1408872254 CA393194303	58	G>S		No	ClinGen gnomAD
rs1446427502	61	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1566971308 CA393194368	62	Q>*		No	ClinGen Ensembl
rs765673940 CA7609305	63	F>L		No	ClinGen ExAC gnomAD
rs750502528 CA7609306	64	I>L		No	ClinGen ExAC gnomAD
CA393194400 rs750502528	64	I>V		No	ClinGen ExAC gnomAD
TCGA novel	66	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7609307 rs763080603	68	I>T		No	ClinGen ExAC TOPMed gnomAD
CA393194430 rs1317822922	68	I>V		No	ClinGen TOPMed
rs766565168 CA7609308	69	T>I		No	ClinGen ExAC gnomAD
CA393194467 rs1296967688	73	K>*		No	ClinGen Ensembl
CA393194469 rs1217747746	73	K>R		No	ClinGen gnomAD
CA271495427 rs375212080	75	D>Y		No	ClinGen ESP TOPMed gnomAD
COSM963937 CA271495441 rs372840544	80	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs1188523607 CA393194545	81	D>G		No	ClinGen TOPMed gnomAD
rs781067085 CA7609311	86	C>F		No	ClinGen ExAC TOPMed gnomAD
CA393194630 rs781067085	86	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs371614706 CA7609313	88	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1410333234 CA393194669	88	K>R		No	ClinGen TOPMed
TCGA novel	90	D>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393194880 rs1421141928	91	E>G		No	ClinGen TOPMed
CA271495480 rs980150610	91	E>K		No	ClinGen TOPMed
rs752605659 CA7609335	93	L>V		No	ClinGen ExAC gnomAD
CA393194922 rs1188677059	94	D>N		No	ClinGen TOPMed
rs867120295 CA271496240	96	Q>K		No	ClinGen Ensembl
rs1247004238 CA393194961	96	Q>R		No	ClinGen gnomAD
CA393194997 rs1292210018	98	S>*		No	ClinGen TOPMed gnomAD
rs1292210018 CA393194995	98	S>L		No	ClinGen TOPMed gnomAD
CA393195009 rs764176765	99	G>D		No	ClinGen ExAC TOPMed gnomAD
rs764176765 CA7609337	99	G>V		No	ClinGen ExAC TOPMed gnomAD
rs139281917 CA7609338	100	D>N		No	ClinGen ESP TOPMed
CA393195034 rs1177311950	101	H>Y		No	ClinGen gnomAD
rs144292587 CA7609341	102	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs144292587 CA7609342	102	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7609344 rs758074126	104	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs745311667 CA7609343	104	R>W		No	ClinGen ExAC gnomAD
rs1486714339 CA393195057	105	G>C		No	ClinGen TOPMed gnomAD
CA393195058 rs779672987	105	G>D		No	ClinGen ExAC TOPMed
rs779672987 CA7609345	105	G>V		No	ClinGen ExAC TOPMed
CA271496298 rs948817094	107	K>R		No	ClinGen Ensembl
CA7609347 rs770120239	110	R>K		No	ClinGen ExAC gnomAD
rs749826370 CA7609349	115	V>I		No	ClinGen ExAC gnomAD
CA7609350 rs145283880	116	P>S		No	ClinGen 1000Genomes ExAC
rs774498550 CA7609351	117	A>P		No	ClinGen ExAC gnomAD
CA393195139 RCV000677296 rs1555408852	117	A>V		No	ClinGen ClinVar Ensembl dbSNP
rs928446698 CA271496362	120	E>K		No	ClinGen gnomAD
TCGA novel	121	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs567414133 CA7609352	121	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA393195174 rs199707100	123	T>A		No	ClinGen ExAC TOPMed gnomAD
rs375028289 CA7609354 COSM963939	123	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA7609353 rs199707100	123	T>P		No	ClinGen ExAC TOPMed gnomAD
CA7609358 rs534589002	125	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA393195194 rs1200888236	126	E>V		No	ClinGen TOPMed gnomAD
CA271496408 rs148560591 COSM109431	127	V>L	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA7609359 rs765017482	129	T>A		No	ClinGen ExAC gnomAD
rs1443550652 CA393195216	130	P>A		No	ClinGen TOPMed
rs1382815333 CA393195224	131	F>S		No	ClinGen TOPMed
CA7609361 rs140334231	132	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs140334231 CA7609362	132	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs754578898 CA7609364	135	K>R		No	ClinGen ExAC gnomAD
rs768940168 CA7609374	137	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA271400154 rs1056677711	138	E>D		No	ClinGen TOPMed
rs113869466 CA271400152	138	E>G		No	ClinGen Ensembl
rs776489501 CA7609375	141	N>D		No	ClinGen ExAC gnomAD
CA271400158 rs1022180498 CA392818417	141	N>K		No	ClinGen gnomAD
CA392818410 rs1375981801	141	N>S		No	ClinGen TOPMed
CA392818412 rs1375981801	141	N>T		No	ClinGen TOPMed
CA7609378 COSM193689 rs144113386	143	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs762487579 CA7609380 CA392818517	146	K>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	148	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	148	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1449071368 CA392818560	150	V>I		No	ClinGen TOPMed
rs76697871 CA7609381 RCV000914575	151	N>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA392818617 rs1566972366	154	T>R		No	ClinGen Ensembl
rs371856069 CA7609383	155	R>T		No	ClinGen ESP ExAC
rs1566972371 RCV001235672	156	E>missing		No	ClinVar dbSNP
rs376546567 CA7609384	157	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs754286751 CA7609385	161	L>F		No	ClinGen ExAC gnomAD
rs779516117 CA7609387	162	A>G		No	ClinGen ExAC gnomAD
rs201199390 RCV000907997 CA7609386	162	A>S		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA271400170 rs779516117	162	A>V		No	ClinGen ExAC gnomAD
rs746409740 CA7609388	163	V>F		No	ClinGen ExAC gnomAD
CA392818716 rs1596336737	163	V>G		No	ClinGen Ensembl
rs746409740 CA7609389	163	V>I		No	ClinGen ExAC gnomAD
rs1286071062 CA392818742	166	P>L		No	ClinGen gnomAD
rs149115200 CA7609390	168	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs747018473 CA7609391	168	R>H		No	ClinGen ExAC TOPMed gnomAD
CA271400175 rs747018473	168	R>P		No	ClinGen ExAC TOPMed gnomAD
CA392818762 rs1433486316	169	H>D		No	ClinGen gnomAD
CA392818841 rs1319293409	173	C>S		No	ClinGen TOPMed
rs143004733 CA7609392	177	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7609394 rs200177653	178	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7609393 rs776700156	178	H>R		No	ClinGen ExAC gnomAD
rs1382220681 CA392819012	181	I>V		No	ClinGen gnomAD
CA7609395 rs769442194	182	N>H		No	ClinGen ExAC gnomAD
rs773018211 CA7609397	182	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7609396 rs773018211	182	N>T		No	ClinGen ExAC gnomAD
rs766240932 CA7609398	185	L>V		No	ClinGen ExAC
CA392819097 rs1390150063	187	C>G		No	ClinGen TOPMed
CA392819102 rs1388841270	187	C>S		No	ClinGen gnomAD
rs111658371 CA7609399 COSM1288641	189	R>C	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs201373158 CA7609400	189	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201373158 CA392819129	189	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA392819138 rs1187200758	190	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7609401 rs767252491	191	V>I		No	ClinGen ExAC gnomAD
CA392819186 rs1355221585	194	Q>P		No	ClinGen gnomAD
rs755755171 CA7609403	195	E>G		No	ClinGen ExAC gnomAD
CA271400194 rs931989856	197	S>A		No	ClinGen Ensembl
rs1488696308 CA392819244	199	P>S		No	ClinGen gnomAD
rs779170649 CA7609404	204	G>D		No	ClinGen ExAC gnomAD
rs1566973271 CA392819570	208	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs897076408 CA271400937	209	T>A		No	ClinGen TOPMed gnomAD
CA7609429 rs755471393	209	T>S		No	ClinGen ExAC TOPMed gnomAD
CA392819595 rs1173482126	212	E>K		No	ClinGen gnomAD
CA7609430 rs781152404	213	Q>R		No	ClinGen ExAC gnomAD
CA7609431 rs748194484	214	D>G		No	ClinGen ExAC gnomAD
rs1465533209 CA392819611	214	D>H		No	ClinGen gnomAD
rs764363211 CA271400942	215	I>T		No	ClinGen Ensembl
CA7609432 rs756359639	218	R>C		No	ClinGen ExAC TOPMed gnomAD
rs777959222 CA7609433 COSM299568	218	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs749130311 CA392819642	219	D>H		No	ClinGen ExAC gnomAD
rs749130311 CA7609434	219	D>N		No	ClinGen ExAC gnomAD
TCGA novel	220	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7609435 rs373910178	220	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA392819656 rs1259718379	221	N>D		No	ClinGen gnomAD
CA271400949 rs867666933	221	N>K		No	ClinGen TOPMed
rs774095998 CA7609437	222	K>R		No	ClinGen ExAC gnomAD
rs1353295789 CA392819681	224	Q>L		No	ClinGen gnomAD
rs1335963092 CA392819736	230	L>V		No	ClinGen TOPMed
rs774864951 CA7609440	231	M>T		No	ClinGen ExAC gnomAD
rs1255670797 CA392819748	231	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	233	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1298826643 CA392819770	233	G>R		No	ClinGen gnomAD
CA392820421 rs1261560324	234	V>M		No	ClinGen gnomAD
rs745606961 CA7609455	236	N>T		No	ClinGen ExAC gnomAD
rs888346993 CA271402221	239	K>N		No	ClinGen Ensembl
CA7609456 rs373424036	239	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7609457 rs780023805	239	K>R		No	ClinGen ExAC gnomAD
rs746545885 CA7609458	240	V>L		No	ClinGen ExAC gnomAD
CA7609459 rs768249733	241	D>N		No	ClinGen ExAC gnomAD
CA392820561 rs1252567106	242	I>F		No	ClinGen gnomAD
TCGA novel	242	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392820587 rs1420003280	243	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA392820616 rs1358404644	245	K>T		No	ClinGen gnomAD
rs1429706168 CA392820664	248	L>F		No	ClinGen gnomAD
CA271402225 rs1007007935	249	P>S		No	ClinGen TOPMed
rs138046999 CA7609460	250	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1341299680 CA392820704	251	Q>E		No	ClinGen TOPMed
CA392820719 rs1389781000	252	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs143968963 CA392820747	254	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143968963 CA7609462 COSM193692	254	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA7609463 rs774646600	255	I>M		No	ClinGen ExAC
rs759932789 CA392820779	257	S>C		No	ClinGen ExAC gnomAD
rs759932789 CA7609464	257	S>F		No	ClinGen ExAC gnomAD
rs1242588865 CA392820781	258	G>S		No	ClinGen gnomAD
rs1596341256 RCV001009251	260	E>missing		No	ClinVar dbSNP
rs1596341254 CA392820807	260	E>G		No	ClinGen Ensembl
CA7609466 rs200794090	261	K>E		No	ClinGen 1000Genomes ExAC
CA392820821 rs1316734439	261	K>N		No	ClinGen TOPMed gnomAD
CA271402240 rs568202133	262	A>T		No	ClinGen 1000Genomes
rs761051245 CA7609469	265	H>R		No	ClinGen ExAC gnomAD
CA7609472 rs757477410	272	F>I		No	ClinGen ExAC gnomAD
rs1467078570 CA392820977	274	R>G		No	ClinGen TOPMed
TCGA novel	275	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1399723785 CA392820991	275	T>S		No	ClinGen gnomAD
rs371078272 CA7609488	277	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1294699486 CA392821160	279	R>K		No	ClinGen TOPMed
CA392821165 rs1400994747	280	T>A		No	ClinGen gnomAD
CA392821182 rs1566975890	282	V>A		No	ClinGen Ensembl
rs1297715003 CA392821178	282	V>I		No	ClinGen gnomAD
CA271402982 rs1035521808	283	I>V		No	ClinGen TOPMed gnomAD
rs931706611 CA271402983	284	D>V		No	ClinGen gnomAD
CA7609489 rs765423259	285	D>V		No	ClinGen ExAC gnomAD
rs750623695 CA7609490	286	E>V		No	ClinGen ExAC gnomAD
CA7609491 rs758509361	287	S>*		No	ClinGen ExAC gnomAD
CA7609492 rs766218041	288	D>N		No	ClinGen ExAC gnomAD
CA7609493 rs751253809	290	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7609494 rs201377022	292	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7609495 rs781264670	292	S>I		No	ClinGen ExAC gnomAD
rs1173792758 CA392821264	295	N>H		No	ClinGen TOPMed
rs1566975915 CA392821281	297	W>R		No	ClinGen Ensembl
rs1481168996 CA392821292	298	L>S		No	ClinGen TOPMed
CA7609496 rs367814990	300	K>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs367814990 CA7609497	300	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA392821316 rs1240709593	302	E>*		No	ClinGen gnomAD
CA7609499 rs748995821 COSM1374034	303	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7609498 rs183898974	303	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202126137 CA7609500	306	L>W		No	ClinGen ExAC gnomAD
CA7609501 rs775930080	307	Q>R		No	ClinGen ExAC gnomAD
CA392821357 rs1596343320	308	K>R		No	ClinGen Ensembl
CA392821361 rs1415063911	309	R>Q		No	ClinGen TOPMed gnomAD
CA392821366 rs1479470238	310	E>K		No	ClinGen gnomAD
CA271403008 rs891995513	312	E>*		No	ClinGen TOPMed
CA392821382 rs1010802359	312	E>A		No	ClinGen TOPMed
rs1010802359 CA271403011	312	E>V		No	ClinGen TOPMed
CA392821390 rs1336434404	313	L>R		No	ClinGen gnomAD
CA7609504 rs368346982	317	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs368346982 CA392821412	317	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs773115996 CA7609507	319	A>T		No	ClinGen ExAC gnomAD
CA392821432 rs1270065649	320	S>C		No	ClinGen gnomAD
CA7609508 rs763249950	321	R>*		No	ClinGen ExAC gnomAD
rs763935853 CA7609509	321	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA271403039 rs987779591	322	L>I		No	ClinGen TOPMed
TCGA novel	324	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7609510 RCV000658719 rs149432140	326	V>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7609512 rs767605216	327	T>I		No	ClinGen ExAC TOPMed gnomAD
rs756071320 CA392821474	328	I>L		No	ClinGen ExAC TOPMed gnomAD
rs756071320 CA7609514	328	I>V		No	ClinGen ExAC TOPMed gnomAD
CA392821484 rs1489115591	329	D>G		No	ClinGen gnomAD
CA7609516 rs748682086	333	R>G		No	ClinGen ExAC gnomAD
TCGA novel	334	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199649820 CA271403044	334	K>R		No	ClinGen 1000Genomes
rs201578335 CA271403045	335	I>T		No	ClinGen 1000Genomes
CA271403052 rs866737638	341	S>*		No	ClinGen Ensembl
CA392821569 rs1189123181	342	L>V		No	ClinGen TOPMed
rs372807275 CA7609521	343	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs778414032 CA392821575	343	A>S		No	ClinGen ExAC TOPMed gnomAD
rs778414032 CA7609519	343	A>T		No	ClinGen ExAC TOPMed gnomAD
rs372807275 CA7609520	343	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA392821588 rs1362856107	345	Y>C		No	ClinGen gnomAD
CA7609522 rs776937263	345	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA392821595 rs1398484527	346	H>N		No	ClinGen gnomAD
rs1183894077 CA392821602	346	H>R		No	ClinGen Ensembl
rs1398484527 CA392821597	346	H>Y		No	ClinGen gnomAD
CA7609536 rs753448635	349	L>I		No	ClinGen ExAC gnomAD
rs1244296941 CA392821883	350	D>V		No	ClinGen TOPMed gnomAD
CA271405557 rs1030027113	351	E>K		No	ClinGen gnomAD
rs1490003861 CA392821902	353	I>L		No	ClinGen gnomAD
rs756696515 CA7609537	353	I>M		No	ClinGen ExAC gnomAD
rs1344713546 CA392821905	353	I>T		No	ClinGen Ensembl
TCGA novel	353	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778574742 CA392821908	354	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs778574742 CA7609538	354	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA271405572 rs1034347481	355	A>T		No	ClinGen TOPMed
TCGA novel	355	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1236413949 CA392821920	356	I>V		No	ClinGen gnomAD
rs750102681 CA7609539	357	A>T		No	ClinGen ExAC TOPMed gnomAD
rs74019250 RCV000880893 CA7609540	358	N>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs781549467 CA7609541	358	N>S		No	ClinGen ExAC gnomAD
CA392821948 rs1271138037	360	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs748444417 CA7609542	362	N>T		No	ClinGen ExAC gnomAD
TCGA novel	363	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770397345 COSM963945 CA7609543	364	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs749426700 CA7609545	365	L>V		No	ClinGen ExAC TOPMed gnomAD
CA271405614 rs1031354097	369	D>Y		No	ClinGen TOPMed
rs1163445578 CA392822008	370	R>G		No	ClinGen gnomAD
TCGA novel	370	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392822044 rs1162857989	372	S>F		No	ClinGen TOPMed
rs1414755276 CA392822058	374	E>K		No	ClinGen TOPMed
CA7609548 rs759851672	375	P>H		No	ClinGen ExAC TOPMed gnomAD
CA7609549 rs759851672	375	P>L		No	ClinGen ExAC TOPMed gnomAD
rs759851672 CA7609550	375	P>R		No	ClinGen ExAC TOPMed gnomAD
rs774524258 CA7609547	375	P>T		No	ClinGen ExAC gnomAD
CA7609551 rs760377290	376	L>V		No	ClinGen ExAC gnomAD
CA7609552 rs535508634	377	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA7609553 rs146085855	380	V>I		No	ClinGen ESP ExAC gnomAD
rs1334143606 CA392822146	382	P>L		No	ClinGen TOPMed gnomAD
rs1334143606 CA392822145	382	P>R		No	ClinGen TOPMed gnomAD
rs201642923 CA7609554	382	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA271405671 rs376249352	383	N>S		No	ClinGen ESP TOPMed gnomAD
rs189020040 CA7609556	384	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs962629110 CA271405679	386	Q>R		No	ClinGen TOPMed
CA392822219 rs1257076408	388	P>S		No	ClinGen TOPMed gnomAD
rs144077712 CA7609560	389	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA392822756 rs1278514103	392	V>I		No	ClinGen Ensembl
CA7609589 rs747969829	394	H>D		No	ClinGen ExAC gnomAD
CA271408797 rs867106568	394	H>Q		No	ClinGen Ensembl
rs769779142 CA7609590	394	H>R		No	ClinGen ExAC gnomAD
rs887691950 CA271408802	395	T>I		No	ClinGen TOPMed
CA392822789 rs1302149982	397	A>V		No	ClinGen gnomAD
rs758419619 CA7609593	398	A>T		No	ClinGen ExAC TOPMed gnomAD
rs149744276 CA7609595	400	Q>R		No	ClinGen ESP ExAC gnomAD
rs901680663 CA392822822	402	K>M		No	ClinGen TOPMed gnomAD
CA271408862 rs901680663	402	K>T		No	ClinGen TOPMed gnomAD
rs767197205 CA7609597	403	A>T		No	ClinGen ExAC TOPMed gnomAD
CA271408881 rs199933772	404	F>L		No	ClinGen 1000Genomes
CA7609598 rs145666096	405	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs368345720 CA7609599	405	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA271408898 rs949183328	406	S>A		No	ClinGen gnomAD
CA7609600 rs765888515	407	S>L		No	ClinGen ExAC gnomAD
rs750995245 CA7609601	409	F>S		No	ClinGen ExAC gnomAD
rs1222393866 CA392822869	410	G>V		No	ClinGen gnomAD
CA392822871 rs1343209267	411	L>V		No	ClinGen gnomAD
CA271408948 rs1046135890	412	E>D		No	ClinGen TOPMed gnomAD
rs202181385 CA392822875	412	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7609603 rs202181385	412	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747040328 CA7609604	414	N>H		No	ClinGen ExAC gnomAD
CA7609605 rs755220366	415	S>L		No	ClinGen ExAC TOPMed gnomAD
CA392822921 rs1219984960	418	H>R		No	ClinGen TOPMed
rs769545692 COSM26007 CA7609608	421	R>*	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7609609 rs772943170	421	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1222981029 CA392822976	422	I>T		No	ClinGen gnomAD
rs1344634552 CA392823022	425	Q>P		No	ClinGen TOPMed
CA271409002 rs993664672	426	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs749236625 CA7609610	426	E>K		No	ClinGen ExAC gnomAD
rs1566978150 CA392823102	430	G>A		No	ClinGen Ensembl
TCGA novel	434	G>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392823161 rs1438482298	434	G>S		No	ClinGen TOPMed
rs113596176 CA7609612	435	W>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7609613 rs759076211	436	C>G		No	ClinGen ExAC gnomAD
CA392823182 rs1316958191	436	C>Y		No	ClinGen TOPMed
rs771674231 CA7609614	438	S>P		No	ClinGen ExAC gnomAD
CA392823208 rs1413624915	440	H>P		No	ClinGen TOPMed
CA7609615 rs775181345	440	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs760360342 CA7609616	441	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA7609617 rs765715143	442	P>S		No	ClinGen ExAC gnomAD
rs750757053 CA7609618	445	S>C		No	ClinGen ExAC TOPMed gnomAD
rs200294952 CA7609620	449	R>G		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	450	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1444659677 CA392823291	453	R>K		No	ClinGen TOPMed gnomAD
CA392824150 rs1264801240	454	V>L		No	ClinGen TOPMed
rs1317233809 CA392824183	455	E>D		No	ClinGen TOPMed
rs1596351067 CA392824298	461	T>P		No	ClinGen Ensembl
CA7609644 rs752707262	461	T>S		No	ClinGen ExAC gnomAD
CA271413809 rs1012930085	462	P>A		No	ClinGen Ensembl
rs1211150503 CA392824326	462	P>R		No	ClinGen TOPMed gnomAD
CA392824334 rs375004645	463	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed
CA7609646 rs375004645	463	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs142075785 CA392824354	463	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs375004645 CA7609647	463	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs778536659 CA7609649	464	R>G		No	ClinGen ExAC gnomAD
rs780486549 CA271413867 CA392824385	465	G>R		No	ClinGen Ensembl
rs745835965 CA7609650	466	R>*		No	ClinGen ExAC gnomAD
CA392824406 rs1293072235	466	R>Q		No	ClinGen gnomAD
rs369347948 CA7609652	467	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs746509858 CA7609653	468	W>*		No	ClinGen ExAC gnomAD
CA392824463 rs1435579753	470	A>P		No	ClinGen gnomAD
rs1435579753 CA392824461	470	A>T		No	ClinGen gnomAD
CA392824470 rs1175695690	471	A>T		No	ClinGen gnomAD
rs1374047400 CA392824479	471	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs919120597 CA271413904	474	K>T		No	ClinGen Ensembl
CA271413921 rs951911391 CA392824533	475	K>N		No	ClinGen gnomAD
CA7609656 rs749654061	475	K>T		No	ClinGen ExAC gnomAD
CA392824544 rs1429221684	476	P>R		No	ClinGen gnomAD
TCGA novel	476	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA392824561 rs1267965771	478	P>L		No	ClinGen gnomAD
CA7609658 rs183230473	479	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7609659 rs183230473	479	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1596351162 CA392824591	481	V>I		No	ClinGen Ensembl
rs768009922 CA7609660	484	L>F		No	ClinGen ExAC TOPMed gnomAD
rs760447338 RCV001008319	487	T>missing		No	ClinVar dbSNP
CA7609664 rs146669882	488	Y>F		No	ClinGen ESP ExAC gnomAD
rs775606456 CA7609663	488	Y>N		No	ClinGen ExAC gnomAD
rs148350479 CA7609666	489	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs757376122 CA7609667	490	L>R		No	ClinGen ExAC gnomAD
TCGA novel	490	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141545012 CA7609668	492	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs750114438 CA7609669	492	R>H		No	ClinGen ExAC gnomAD
CA392824740 rs141545012	492	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA271415277 rs961918402	499	P>L		No	ClinGen TOPMed
CA7609687 rs750287498	501	D>E		No	ClinGen ExAC TOPMed gnomAD
rs370595309 CA271415279	501	D>Y		No	ClinGen ESP TOPMed
COSM248001 CA7609688 rs758104400	502	Y>C	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA392825090 rs758104400	502	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs758104400 CA392825089	502	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs766456822 CA7609689 COSM470951	503	P>L	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1221732761 CA392825103	504	S>L		No	ClinGen TOPMed
rs1369883051 CA392825106	505	G>D		No	ClinGen TOPMed
rs754914918 CA7609691	505	G>S		No	ClinGen ExAC gnomAD
rs780853759 CA7609692	506	C>F		No	ClinGen ExAC gnomAD
rs755854589 CA7609694	509	G>D		No	ClinGen ExAC gnomAD
CA392825155 rs1275611572	513	L>V		No	ClinGen TOPMed
TCGA novel	517	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA271415361 rs865831388	518	S>F		No	ClinGen Ensembl
rs780352033 CA7609698	519	Q>*		No	ClinGen ExAC gnomAD
rs1235056308 CA392825196	519	Q>P		No	ClinGen gnomAD
rs767940283 CA271415364	521	Q>R		No	ClinGen Ensembl
CA7609699 rs747532625	522	F>L		No	ClinGen ExAC gnomAD
CA7609700 rs769079808	523	K>M		No	ClinGen ExAC gnomAD
CA392825614 rs1378424217	527	P>A		No	ClinGen gnomAD
rs769206371 CA7609723	527	P>L		No	ClinGen ExAC gnomAD
rs544622995 CA7609724	528	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA7609725 rs372339638	531	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs7167612 CA392825653 CA392825652	532	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA392825661 rs1476078823	534	D>H		No	ClinGen TOPMed gnomAD
CA7609728 rs763282085	536	P>S		No	ClinGen ExAC gnomAD
rs530200970 CA7609731	539	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs865977752 CA271428441	541	C>Y		No	ClinGen Ensembl
rs1038731916 CA271428443	542	K>R		No	ClinGen Ensembl
CA392825724 rs1173670836	543	N>T		No	ClinGen gnomAD
CA7609732 rs774346541	544	P>L		No	ClinGen ExAC gnomAD
CA7609734 rs767532416	547	M>I		No	ClinGen ExAC TOPMed gnomAD
CA7609733 rs759384826	547	M>V		No	ClinGen ExAC gnomAD
rs900071465 CA271428466	548	V>I		No	ClinGen Ensembl
CA7609735 rs752610167	549	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1187571173 CA392825767	550	K>Q		No	ClinGen gnomAD
rs1566985853 CA392825770	550	K>T		No	ClinGen Ensembl
rs113901588 CA271428480	551	F>L		No	ClinGen Ensembl
CA7609736 rs760615418	551	F>L		No	ClinGen ExAC gnomAD
CA392825805 rs1469985986	555	G>E		No	ClinGen gnomAD
rs1402827135 CA392825803	555	G>R		No	ClinGen TOPMed
CA392825819 rs1332544548	557	P>L		No	ClinGen TOPMed
rs1566985864 CA392825830	559	I>L		No	ClinGen Ensembl
CA7609769 rs146064000	563	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7609771 rs746108802	565	K>N		No	ClinGen ExAC TOPMed gnomAD
CA271434897 rs931692706	565	K>R		No	ClinGen TOPMed
CA7609773 rs775218924	566	I>M		No	ClinGen ExAC gnomAD
COSM1708290 CA392825903 rs1596369501	567	H>Y	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA392825925 rs1344928739	570	A>S		No	ClinGen gnomAD
TCGA novel	571	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768520683 CA7609775	572	K>N		No	ClinGen ExAC gnomAD
CA7609777 rs761696202	574	L>I		No	ClinGen ExAC TOPMed gnomAD
CA7609778 rs367809794	575	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7609779 rs772650017	582	V>W		No	ClinGen ExAC gnomAD

2 associated diseases with Q15650

[MIM: 616866]: Spinal muscular atrophy with congenital bone fractures 1 (SMABF1)

An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures. {ECO:0000269|PubMed:26924529}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 617066]: Muscular dystrophy, congenital, Davignon-Chauveau type (MDCDC)

An autosomal recessive, severe congenital muscular dystrophy characterized by neonatal onset of muscle weakness predominantly involving axial muscles, life-threatening respiratory failure, skin abnormalities and joint hyperlaxity without contractures. Muscle biopsies show multi-minicores, caps and dystrophic lesions. {ECO:0000269|PubMed:27008887}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures. {ECO:0000269|PubMed:26924529}. Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal recessive, severe congenital muscular dystrophy characterized by neonatal onset of muscle weakness predominantly involving axial muscles, life-threatening respiratory failure, skin abnormalities and joint hyperlaxity without contractures. Muscle biopsies show multi-minicores, caps and dystrophic lesions. {ECO:0000269|PubMed:27008887}. Note=The disease is caused by variants affecting the gene represented in this entry.

9 regional properties for Q15650

Type	Name	Position	InterPro Accession
domain	B-box-type zinc finger	91 - 132	IPR000315
domain	Zinc finger, RING-type	15 - 59	IPR001841
domain	B30.2/SPRY domain	280 - 494	IPR001870
domain	SPRY domain	348 - 493	IPR003877
domain	Butyrophylin-like, SPRY domain	314 - 331	IPR003879-1
domain	Butyrophylin-like, SPRY domain	430 - 454	IPR003879-2
domain	Butyrophylin-like, SPRY domain	462 - 480	IPR003879-3
conserved_site	Zinc finger, RING-type, conserved site	30 - 39	IPR017907
domain	Zinc finger, RING-type, eukaryotic	15 - 56	IPR027370

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm, cytosol Cytoplasm, cytoskeleton, microtubule organizing center, centrosome	Cytoplasmic under conditions of serum deprivation (PubMed:10454579) Colocalizes with NEK6 in the centrosome (PubMed:20873783)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
activating signal cointegrator 1 complex	A protein complex that contains TRIP4 (ASC1) and acts a transcriptional coactivator by interacting with transcription factors such as NF-kappa B. In humans this complex has 4 subunits: TRIP4 + ASCC1-3.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
microtubule organizing center	An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides.
neuromuscular junction	The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential.
nuclear body	Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
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.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

8 GO annotations of molecular function

Name	Definition
histone acetyltransferase binding	Binding to an histone acetyltransferase.
nuclear estrogen receptor binding	Binding to a nuclear estrogen receptor.
nuclear receptor binding	Binding to a nuclear receptor protein. Nuclear receptor proteins are DNA-binding transcription factors which are regulated by binding to a ligand.
protease binding	Binding to a protease or a peptidase.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
transcription coactivator activity	A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.
ubiquitin-like protein ligase binding	Binding to a ubiquitin-like protein ligase, such as ubiquitin-ligase.
zinc ion binding	Binding to a zinc ion (Zn).

8 GO annotations of biological process

Name	Definition
intracellular estrogen receptor signaling pathway	The series of molecular signals initiated by estrogen binding to an intracellular receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
regulation of DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of myoblast differentiation	Any process that modulates the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.
rescue of stalled ribosome	A process of translational elongation that takes place when a ribosome has stalled during translation, and results in freeing the ribosome from the stalled translation complex.
ribosome disassembly	The disaggregation of a ribosome into its constituent components; includes the dissociation of ribosomal subunits.
ribosome-associated ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide encoded by an aberrant message and associated with a stalled ribosome. Degradation is initiated by the covalent attachment of a ubiquitin group, or multiple ubiquitin groups, to the ribosome-associated protein.
toxin transport	The directed movement of a toxin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MAVAGAVSGE	PLVHWCTQQL	RKTFGLDVSE	EIIQYVLSIE	SAEEIREYVT	DLLQGNEGKK
70	80	90	100	110	120
GQFIEELITK	WQKNDQELIS	DPLQQCFKKD	EILDGQKSGD	HLKRGRKKGR	NRQEVPAFTE
130	140	150	160	170	180
PDTTAEVKTP	FDLAKAQENS	NSVKKKTKFV	NLYTREGQDR	LAVLLPGRHP	CDCLGQKHKL
190	200	210	220	230	240
INNCLICGRI	VCEQEGSGPC	LFCGTLVCTH	EEQDILQRDS	NKSQKLLKKL	MSGVENSGKV
250	260	270	280	290	300
DISTKDLLPH	QELRIKSGLE	KAIKHKDKLL	EFDRTSIRRT	QVIDDESDYF	ASDSNQWLSK
310	320	330	340	350	360
LERETLQKRE	EELRELRHAS	RLSKKVTIDF	AGRKILEEEN	SLAEYHSRLD	ETIQAIANGT
370	380	390	400	410	420
LNQPLTKLDR	SSEEPLGVLV	NPNMYQSPPQ	WVDHTGAASQ	KKAFRSSGFG	LEFNSFQHQL
430	440	450	460	470	480
RIQDQEFQEG	FDGGWCLSVH	QPWASLLVRG	IKRVEGRSWY	TPHRGRLWIA	ATAKKPSPQE
490	500	510	520	530	540
VSELQATYRL	LRGKDVEFPN	DYPSGCLLGC	VDLIDCLSQK	QFKEQFPDIS	QESDSPFVFI
550	560	570	580
CKNPQEMVVK	FPIKGNPKIW	KLDSKIHQGA	KKGLMKQNKA	V