AiPD: Autoinhibited Protein Database

Q8TBY0

Gene name	RBM46
Protein name	Probable RNA-binding protein 46
Names	Cancer/testis antigen 68, CT68, RNA-binding motif protein 46
Species	Homo sapiens (Human)
KEGG Pathway	hsa:166863
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-85 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-85 (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 Q8TBY0

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8TBY0-F1	Predicted				AlphaFoldDB

312 variants for Q8TBY0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs924962562 CA108936017	5	N>T		No	ClinGen Ensembl
rs1307511564 COSM1052453 CA358631736	6	I>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA108936018 rs767508372	6	I>V		No	ClinGen Ensembl
rs1246010165 CA358631755	9	T>A		No	ClinGen gnomAD
rs373650301 CA108936019	10	N>D		No	ClinGen ESP TOPMed gnomAD
CA108936020 rs201983049	10	N>I		No	ClinGen gnomAD
CA358631798 rs1370732120	15	V>F		No	ClinGen TOPMed
TCGA novel	15	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144494582 CA108936022 COSM106493	16	R>*	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs144494582 CA3115943	16	R>G		No	ClinGen ExAC gnomAD
rs1460984216 CA358631802 COSM3129386	16	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1181946297 CA358631810	17	T>I		No	ClinGen TOPMed gnomAD
rs1181946297 CA358631809	17	T>S		No	ClinGen TOPMed gnomAD
rs757685873 CA3115944	18	G>D		No	ClinGen ExAC gnomAD
CA358631821 rs1165260147	19	I>S		No	ClinGen gnomAD
rs1425285663 CA358631818	19	I>V		No	ClinGen gnomAD
CA108936023 rs956344456	22	E>G		No	ClinGen Ensembl
TCGA novel	27	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746166729 CA3115946	27	A>V		No	ClinGen ExAC gnomAD
CA358631912 rs1423571940	32	T>S		No	ClinGen TOPMed
CA358631931 rs758537598	35	N>S		No	ClinGen ExAC gnomAD
CA3115947 rs758537598	35	N>T		No	ClinGen ExAC gnomAD
rs769806033 CA3115950	47	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1296552730 CA358632057	51	G>V		No	ClinGen TOPMed
TCGA novel	52	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358632092 rs1560896910	56	P>L		No	ClinGen Ensembl
TCGA novel	60	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	60	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs77066169 CA108936116	61	C>W		No	ClinGen gnomAD
rs1252362812 CA358632129	62	E>G		No	ClinGen gnomAD
CA3115972 rs200425509	70	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1197262347 CA358632190	71	D>V		No	ClinGen gnomAD
CA108936117 rs1002281030	72	M>T		No	ClinGen TOPMed gnomAD
CA108936120 rs1033317089	76	E>D		No	ClinGen Ensembl
CA108936119 rs201310798	76	E>G		No	ClinGen 1000Genomes
rs757607608 CA108936121	80	V>L		No	ClinGen Ensembl
rs1352427618 CA358632268	82	E>V		No	ClinGen gnomAD
CA108936122 rs140673145	83	R>G		No	ClinGen ESP TOPMed gnomAD
rs771659609 CA3115976	83	R>S		No	ClinGen ExAC gnomAD
rs1311159823 CA358632308	88	Y>F		No	ClinGen TOPMed
CA3115979 rs760150726 COSM1177199	91	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs780631471 CA3115978	91	R>*		No	ClinGen ExAC gnomAD
rs1560897118 CA358632423	104	A>D		No	ClinGen Ensembl
TCGA novel	108	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200616133 CA3115983	108	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1049884046 CA108936124	113	E>A		No	ClinGen TOPMed gnomAD
rs1560897186 CA358632525	119	R>G		No	ClinGen Ensembl
rs1472266658 CA358632533	120	I>V		No	ClinGen TOPMed
rs763459294 CA3115986	123	N>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3115987 rs766676514	124	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs140214215 CA3115989	125	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3115990 rs79167802	126	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM2152493 CA108936127 rs866164836	127	R>*	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs752720613 CA3115991	127	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA108936128 rs975834068	128	P>L		No	ClinGen Ensembl
rs921254778 CA108936129	130	K>R		No	ClinGen gnomAD
CA3115992 rs757176125	131	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	133	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1364242230 CA358632635	136	V>I		No	ClinGen gnomAD
TCGA novel	142	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	148	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	153	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1313166746 CA358632777	155	E>G		No	ClinGen TOPMed
CA3115995 rs758233859	156	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA358632805 rs199571046	159	D>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3115996 rs199571046	159	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358632823 rs1452117793	161	M>I		No	ClinGen gnomAD
CA3115997 rs746723550	164	V>I		No	ClinGen ExAC TOPMed
CA3115998 rs542273055	169	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA358632881 rs1291707405	170	D>G		No	ClinGen TOPMed
CA358632891 rs1445301556	171	V>A		No	ClinGen gnomAD
CA3116000 rs202040835	178	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3116001 rs770287089	179	D>E		No	ClinGen ExAC TOPMed gnomAD
CA3116002 rs773631741	181	T>A		No	ClinGen ExAC gnomAD
rs867870643 CA108936131	184	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1415084340 CA555835738	191	Y>*		No	ClinGen gnomAD
rs767661479 CA3116007	205	I>M		No	ClinGen ExAC gnomAD
rs773841362 CA3116023	207	G>E		No	ClinGen ExAC gnomAD
rs1441232478 CA358633172	211	L>V		No	ClinGen gnomAD
CA358633190 rs1187566439	213	G>D		No	ClinGen TOPMed
CA108936180 rs924364307	215	T>I		No	ClinGen TOPMed
rs1342343562 CA358633213	217	Q>*		No	ClinGen gnomAD
TCGA novel	218	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358633286 rs1180147002	227	V>M		No	ClinGen gnomAD
CA3116030 rs775619685	228	D>N		No	ClinGen ExAC gnomAD
TCGA novel	234	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764140926 CA3116032	234	R>K		No	ClinGen ExAC gnomAD
TCGA novel	238	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	238	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1335974857 CA358633395	242	N>S		No	ClinGen TOPMed
CA3116033 rs368420858	244	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1047343308 CA108936185	246	S>A		No	ClinGen TOPMed gnomAD
rs758266953 CA3116034	248	T>A		No	ClinGen ExAC gnomAD
TCGA novel	250	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3116035 rs766336916	251	T>A		No	ClinGen ExAC gnomAD
rs1410353679 CA358633459	252	I>V		No	ClinGen gnomAD
rs1282603532 CA358633476	254	A>E		No	ClinGen gnomAD
rs1328826908 CA358633487	256	F>I		No	ClinGen TOPMed gnomAD
rs751307844 CA3116036	257	N>S		No	ClinGen ExAC TOPMed gnomAD
CA358633505 rs1275034229	258	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1338350011 CA358633511	259	F>L		No	ClinGen gnomAD
CA358633530 rs1203388833	261	P>R		No	ClinGen TOPMed gnomAD
rs780893242 CA3116038	262	G>D		No	ClinGen ExAC gnomAD
CA3116037 rs754779553	262	G>S		No	ClinGen ExAC gnomAD
rs1445270354 CA358633546	264	V>A		No	ClinGen gnomAD
rs1333941326 CA358633556	266	R>G		No	ClinGen TOPMed
rs1222362262 CA358633560	266	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1222362262 CA358633558	266	R>Q		No	ClinGen gnomAD
CA108936186 rs867996134	270	L>F		No	ClinGen gnomAD
rs748835942 CA3116042	279	F>S		No	ClinGen ExAC TOPMed gnomAD
rs34863052	279	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	283	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771513738 CA3116043	283	D>Y		No	ClinGen ExAC gnomAD
rs1393536398 CA358633684	284	A>S		No	ClinGen TOPMed
rs779609609 CA3116044	286	A>T		No	ClinGen ExAC gnomAD
rs772389111 CA3116046	287	A>G		No	ClinGen ExAC gnomAD
TCGA novel	290	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3116050 rs776652778	291	M>I		No	ClinGen ExAC TOPMed gnomAD
rs768872900 CA3116049	291	M>T		No	ClinGen ExAC gnomAD
CA358633736 rs1325410510	292	N>S		No	ClinGen TOPMed gnomAD
CA358633754 rs1578912024	295	C>S		No	ClinGen Ensembl
rs1299419245 CA358633776	297	D>E		No	ClinGen gnomAD
TCGA novel	298	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372153334 CA3116051	299	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA108936189 rs1044356492	300	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA358633794 rs1578912066	300	S>R		No	ClinGen Ensembl
TCGA novel	301	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1578912085 CA358633815	303	V>G		No	ClinGen Ensembl
CA3116053 rs751517585	304	T>A		No	ClinGen ExAC gnomAD
TCGA novel	306	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3116056 rs746465115	309	V>I		No	ClinGen ExAC gnomAD
CA358633846 rs746465115	309	V>L		No	ClinGen ExAC gnomAD
rs1172173811 CA358633858	310	N>K		No	ClinGen Ensembl
rs755679970 CA3116057	311	K>N		No	ClinGen ExAC gnomAD
rs888364505 CA108936190	311	K>Q		No	ClinGen TOPMed
CA358633898 rs1449807176	316	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1162701713 CA358633915	318	H>L		No	ClinGen gnomAD
rs156502 CA358633931	320	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3116060 rs753371675	321	G>S		No	ClinGen ExAC gnomAD
CA358633939 rs1163842091	322	Q>E		No	ClinGen gnomAD
rs867373672 CA108936192	323	I>L		No	ClinGen Ensembl
rs776326863 CA108936193	323	I>M		No	ClinGen ExAC TOPMed gnomAD
rs779562641 CA3116062	324	S>R		No	ClinGen ExAC gnomAD
rs1322088423 CA358633959	325	P>A		No	ClinGen gnomAD
CA358633963 rs1365473785	325	P>L		No	ClinGen gnomAD
CA358633964 rs1452294393	326	N>H		No	ClinGen gnomAD
CA3116063 rs746423581	326	N>I		No	ClinGen ExAC gnomAD
CA358633980 rs1323949352	328	E>A		No	ClinGen gnomAD
rs772649494 CA3116064	328	E>D		No	ClinGen ExAC gnomAD
CA358634001 rs1260703858	331	I>T		No	ClinGen gnomAD
rs780220188 CA3116065	332	V>A		No	ClinGen ExAC TOPMed gnomAD
CA358634004 rs1578912351	332	V>M		No	ClinGen Ensembl
CA358634021 rs1210707912	334	A>G		No	ClinGen gnomAD
rs747432736 CA3116066	335	N>D		No	ClinGen ExAC gnomAD
rs1461049588 CA358634026	335	N>T		No	ClinGen gnomAD
CA3116067 rs768819800	339	S>I		No	ClinGen ExAC gnomAD
rs761851365 CA3116069	340	H>Q		No	ClinGen ExAC gnomAD
CA3116068 rs776888116	340	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1411185378 CA358634071	341	P>L		No	ClinGen gnomAD
CA3116071 rs773354295	342	K>E		No	ClinGen ExAC
rs958070762 CA108936195	344	L>P		No	ClinGen gnomAD
CA358634107 rs1388800481	347	L>P		No	ClinGen gnomAD
TCGA novel	348	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	348	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3116073 rs767519992	349	T>A		No	ClinGen ExAC gnomAD
rs752382982 CA3116074	351	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs763804182 CA3116076	353	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs139756307 CA3116077	353	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs756818461 CA3116078	355	N>S		No	ClinGen ExAC gnomAD
CA3116079 rs764785873	356	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1378057799 CA358634163	357	Q>R		No	ClinGen Ensembl
rs1268838754 CA358634170	358	H>R		No	ClinGen gnomAD
CA108936196 rs1030140323	358	H>Y		No	ClinGen TOPMed
rs1560898795 CA358634191	361	S>N		No	ClinGen Ensembl
rs145321511 COSM3392750 CA3116081	362	P>L	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs200783468 CA3116084	366	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3116085 rs781377957	368	C>G		No	ClinGen ExAC gnomAD
CA358634260 rs1412020242	371	P>R		No	ClinGen gnomAD
rs773124241 CA3116088	371	P>S		No	ClinGen ExAC
CA358634272 rs1432142597	373	Y>C		No	ClinGen gnomAD
CA3116090 COSM337130 rs771879035	374	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA108936198 rs771879035	374	P>R		No	ClinGen ExAC TOPMed gnomAD
rs749405909 CA3116089	374	P>S		No	ClinGen ExAC TOPMed gnomAD
rs368849996 CA108936199	375	G>R		No	ClinGen ESP
rs780869472 CA108936200	375	G>V		No	ClinGen Ensembl
CA358634285 rs775533572	376	T>A		No	ClinGen ExAC gnomAD
CA108936201 rs773008017	376	T>R		No	ClinGen Ensembl
CA3116091 rs775533572	376	T>S		No	ClinGen ExAC gnomAD
TCGA novel	379	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs920345045 CA108936202	380	P>A		No	ClinGen Ensembl
rs1369158540 CA358634313	381	I>V		No	ClinGen gnomAD
rs760538399 CA3116092	383	M>I		No	ClinGen ExAC
rs1211442992 CA358634333	383	M>R		No	ClinGen TOPMed
CA3116093 rs764041805	384	Y>*		No	ClinGen ExAC gnomAD
CA358634369 rs1344944811	388	S>F		No	ClinGen gnomAD
rs761493284 CA3116095	389	N>S		No	ClinGen ExAC gnomAD
CA108936203 rs978237011	390	H>R		No	ClinGen TOPMed
TCGA novel	394	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766765342 CA3116099	403	N>K		No	ClinGen ExAC gnomAD
rs757978041 CA3116098	403	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1481972688 CA358634480	404	K>Q		No	ClinGen gnomAD
CA358634484 rs1207181823	404	K>R		No	ClinGen TOPMed gnomAD
CA358634492 rs1430281850	405	N>S		No	ClinGen TOPMed
CA108936204 rs72959256	406	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358634512 rs1314867633	408	A>T		No	ClinGen TOPMed
rs755489276 CA3116101	408	A>V		No	ClinGen ExAC TOPMed gnomAD
CA108936205 rs149789318	409	P>S		No	ClinGen ESP TOPMed
rs748542286 CA3116103	413	Y>F		No	ClinGen ExAC gnomAD
rs781469589 CA3116102	413	Y>H		No	ClinGen ExAC gnomAD
CA3116104 rs756278661	415	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1167649437	418	T>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs778103584 CA3116105	418	T>A		No	ClinGen ExAC gnomAD
CA108936206 rs886090459	418	T>K		No	ClinGen Ensembl
TCGA novel	421	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1194098607 CA358634611	423	K>E		No	ClinGen TOPMed gnomAD
CA3116108 rs775272596	425	L>R		No	ClinGen ExAC gnomAD
rs1265619569 CA358634638	427	V>L		No	ClinGen gnomAD
CA3116109 rs145773267	428	Y>C		No	ClinGen ESP ExAC gnomAD
CA358634645 rs145773267	428	Y>F		No	ClinGen ESP ExAC gnomAD
CA358634655 rs1368479097	429	K>N		No	ClinGen gnomAD
CA3116110 rs768723440	430	I>T		No	ClinGen ExAC gnomAD
TCGA novel	431	V>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA108936207 rs868344592	432	I>L		No	ClinGen Ensembl
CA358634679 rs1295736503	433	P>L		No	ClinGen gnomAD
rs1339747416 CA358634682	434	A>P		No	ClinGen TOPMed gnomAD
CA358634681 rs1339747416	434	A>T		No	ClinGen TOPMed gnomAD
rs558426035 CA3116111	435	I>V		No	ClinGen ExAC TOPMed gnomAD
rs372380427 COSM3696505 CA3116112	436	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1247945420 CA358634720	440	Q>K		No	ClinGen gnomAD
rs772958863 CA3116114	440	Q>R		No	ClinGen ExAC gnomAD
rs762365733 CA3116115	442	Y>F		No	ClinGen ExAC gnomAD
CA358634737 rs762365733	442	Y>S		No	ClinGen ExAC gnomAD
CA3116116 rs765856603 CA358634746	443	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1366692135 CA358634751	444	M>T		No	ClinGen Ensembl
rs751073076 CA3116117	445	P>S		No	ClinGen ExAC gnomAD
CA3116118 rs140639750	446	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA358634762 rs1169635026	446	D>N		No	ClinGen gnomAD
rs1404089562 CA358634776	448	L>F		No	ClinGen gnomAD
rs768032683 CA3116119	451	T>A		No	ClinGen ExAC gnomAD
rs199791745 CA3116120	451	T>M		No	ClinGen ExAC TOPMed gnomAD
CA358634854 rs1295392409	459	A>G		No	ClinGen TOPMed
rs777849010 CA3116122	461	Q>R		No	ClinGen ExAC gnomAD
CA358634878 rs1298044922	463	T>A		No	ClinGen gnomAD
rs997028069 CA108936208	464	L>F		No	ClinGen Ensembl
CA3116125 rs149643043	465	L>F		No	ClinGen 1000Genomes ExAC
rs200110149 CA3116126	466	H>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1226507064 CA358634894	466	H>N		No	ClinGen gnomAD
rs759038871 CA3116158	468	D>E		No	ClinGen ExAC gnomAD
CA3116127 rs144413126	468	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1166595252 CA358631290	469	Y>*		No	ClinGen gnomAD
CA3116159 rs559016263	470	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774991024 CA3116160	473	R>C		No	ClinGen ExAC TOPMed gnomAD
CA358631317 COSM1052465 rs1322290101	473	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	475	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358631336 rs1303756679	476	I>V		No	ClinGen TOPMed gnomAD
CA3116163 rs764543238	477	N>S		No	ClinGen ExAC TOPMed gnomAD
rs369677757 CA3116165	478	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs374364404 CA3116166	479	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA358631363 COSM1695136 rs1340702800	480	S>F	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs750741031 CA3116167	482	V>F		No	ClinGen ExAC gnomAD
rs766510634 CA3116169	485	T>I		No	ClinGen ExAC gnomAD
rs1208452491 CA358631397	486	L>V		No	ClinGen TOPMed gnomAD
CA3116171 rs141427057	487	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA108939245 rs577166593	489	G>A		No	ClinGen Ensembl
CA3116172 rs777619985	491	P>H		No	ClinGen ExAC gnomAD
CA3116173 rs777619985	491	P>L		No	ClinGen ExAC gnomAD
TCGA novel	492	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3116175 rs777430155	492	S>R		No	ClinGen ExAC TOPMed gnomAD
CA3116176 rs143408830	493	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143408830 CA3116177	493	V>M	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA108939247 rs1047818241	495	P>A		No	ClinGen gnomAD
rs1453484813 CA358631448	495	P>L		No	ClinGen TOPMed
CA358631453 rs1359038593	496	Y>S		No	ClinGen TOPMed
rs775028218 CA3116178	497	T>A		No	ClinGen ExAC gnomAD
CA358631458 rs775028218	497	T>P		No	ClinGen ExAC gnomAD
rs746525593 CA3116179	498	S>*		No	ClinGen ExAC gnomAD
rs1332803939 CA358631463	498	S>T		No	ClinGen TOPMed
CA358631494 rs1364018262	502	S>F		No	ClinGen gnomAD
CA358631504 rs1433279328	504	P>A		No	ClinGen gnomAD
rs201454455 CA3116180	506	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs201454455 CA358631518	506	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3116181 rs777048083	507	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1386727317 CA358631532	508	L>F		No	ClinGen TOPMed
CA108939249 rs1020640912	508	L>S		No	ClinGen TOPMed gnomAD
CA3116182 rs564343316	509	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs765755819 CA3116183	510	P>S		No	ClinGen ExAC TOPMed gnomAD
CA358631543 rs1472197029	511	T>A		No	ClinGen TOPMed
CA358631548 rs1267677947	511	T>I		No	ClinGen gnomAD
CA3116184 rs370120156	512	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	513	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358631573 rs1190825414	516	N>H		No	ClinGen gnomAD
rs763225278 CA3116185	516	N>S		No	ClinGen ExAC gnomAD
CA3116186 rs766729265	517	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1186693588 CA358631593	519	H>N		No	ClinGen gnomAD
rs1366681068 CA358631597	519	H>R		No	ClinGen TOPMed gnomAD
CA358631617 rs1473457125	522	Q>R		No	ClinGen gnomAD
CA3116188 rs755052565	523	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3116187 rs202063380	523	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757197731 CA3116191	526	I>M		No	ClinGen ExAC gnomAD
rs1395838199 CA358631642	526	I>T		No	ClinGen gnomAD
CA358631638 rs1386064275	526	I>V		No	ClinGen gnomAD
rs1294241265 CA358631655	528	N>K		No	ClinGen TOPMed
CA3116192 rs201268429	528	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3116193 rs376304954	529	Q>*		No	ClinGen ESP ExAC gnomAD
rs757999258 CA3116195	529	Q>H		No	ClinGen ExAC gnomAD
rs1246749992 CA358631660	529	Q>R		No	ClinGen TOPMed
CA3116197 rs370685487	530	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs147971341 CA3116196	530	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358631677 rs781715160 CA3116199	532	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA3116198 rs140727877	532	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358631693 rs1253926616	534	F>C		No	ClinGen TOPMed gnomAD
CA358631692 rs1253926616	534	F>W		No	ClinGen TOPMed gnomAD

No associated diseases with Q8TBY0

6 regional properties for Q8TBY0

Type	Name	Position	InterPro Accession
domain	RNA recognition motif domain	61 - 139	IPR000504-1
domain	RNA recognition motif domain	141 - 223	IPR000504-2
domain	RNA recognition motif domain	236 - 308	IPR000504-3
domain	Probable RNA-binding protein 46, RNA recognition motif 1	60 - 137	IPR034434
domain	Probable RNA-binding protein 46, RNA recognition motif 2	139 - 223	IPR034435
domain	RBM46, double-stranded RNA binding domain	393 - 470	IPR044462

Functions

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

1 GO annotations of cellular component

Name	Definition
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.

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.

2 GO annotations of biological process

Name	Definition
mRNA stabilization	Prevention of degradation of mRNA molecules. In the absence of compensating changes in other processes, the slowing of mRNA degradation can result in an overall increase in the population of active mRNA molecules.
trophectodermal cell differentiation	The process in which a relatively unspecialized cell acquires the specialized features of a trophectoderm cell.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q96H35	RBM18	Probable RNA-binding protein 18	Homo sapiens (Human)	PR
A0AV96	RBM47	RNA-binding protein 47	Homo sapiens (Human)	PR
P86049	Rbm46	Probable RNA-binding protein 46	Mus musculus (Mouse)	PR
Q0P4R6	rbm46	Probable RNA-binding protein 46	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MNEENIDGTN	GCSKVRTGIQ	NEAALLALME	KTGYNMVQEN	GQRKFGGPPP	GWEGPPPPRG
70	80	90	100	110	120
CEVFVGKIPR	DMYEDELVPV	FERAGKIYEF	RLMMEFSGEN	RGYAFVMYTT	KEEAQLAIRI
130	140	150	160	170	180
LNNYEIRPGK	FIGVCVSLDN	CRLFIGAIPK	EKKKEEILDE	MKKVTEGVVD	VIVYPSATDK
190	200	210	220	230	240
TKNRGFAFVE	YESHRAAAMA	RRKLIPGTFQ	LWGHTIQVDW	ADPEKEVDEE	TMQRVKVLYV
250	260	270	280	290	300
RNLMISTTEE	TIKAEFNKFK	PGAVERVKKL	RDYAFVHFFN	REDAVAAMSV	MNGKCIDGAS
310	320	330	340	350	360
IEVTLAKPVN	KENTWRQHLN	GQISPNSENL	IVFANKEESH	PKTLGKLPTL	PARLNGQHSP
370	380	390	400	410	420
SPPEVERCTY	PFYPGTKLTP	ISMYSLKSNH	FNSAVMHLDY	YCNKNNWAPP	EYYLYSTTSQ
430	440	450	460	470	480
DGKVLLVYKI	VIPAIANGSQ	SYFMPDKLCT	TLEDAKELAA	QFTLLHLDYN	FHRSSINSLS
490	500	510	520	530
PVSATLSSGT	PSVLPYTSRP	YSYPGYPLSP	TISLANGSHV	GQRLCISNQA	SFF