AiPD: Autoinhibited Protein Database

P42696

Gene name	RBM34 (KIAA0117)
Protein name	RNA-binding protein 34
Names	RNA-binding motif protein 34
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23029
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

60-130 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

60-130 (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 P42696

Entry ID	Method	Resolution	Chain	Position	Source
AF-P42696-F1	Predicted				AlphaFoldDB

375 variants for P42696

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA1462631 rs774293792	2	A>D		No	ClinGen ExAC TOPMed gnomAD
CA344928938 rs1379125115	2	A>P		No	ClinGen TOPMed
rs774293792 CA1462630	2	A>V		No	ClinGen ExAC TOPMed gnomAD
rs773435782 CA1462627	3	L>*		No	ClinGen ExAC gnomAD
CA1462626 rs375853795	3	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs773435782 CA344928917	3	L>S		No	ClinGen ExAC gnomAD
rs139917557 CA1462623	5	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139917557 CA1462624	5	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM163952 CA1462621 CA39565939 CA39565929 rs370358826	6	M>I	Variant assessed as Somatic; 0.0 impact. lung breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD NCI-TCGA
CA1462622 rs746595883	6	M>K		No	ClinGen ExAC gnomAD
CA344928833 rs1329280722	7	S>N		No	ClinGen gnomAD
CA1462620 rs758119068	7	S>R		No	ClinGen ExAC gnomAD
rs549912946 CA1462619	8	K>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549912946 CA1462618	8	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs756472580 CA1462617	8	K>N		No	ClinGen ExAC gnomAD
rs752999355 CA344928785	9	R>G		No	ClinGen ExAC TOPMed gnomAD
rs752999355 CA1462616	9	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1462615 TCGA novel rs768081641	10	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
CA344928737 rs1159513135	11	R>G		No	ClinGen gnomAD
rs189294443 CA1462613	11	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs189294443 CA39565899 COSM1501729	11	R>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs200635285 CA1462611	12	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA1462609 rs765499478	13	R>I		No	ClinGen ExAC gnomAD
CA1462610 rs765499478	13	R>T		No	ClinGen ExAC gnomAD
rs776561958 CA1462607	14	S>N		No	ClinGen ExAC TOPMed gnomAD
CA1462605 rs202101761	15	V>A		No	ClinGen ExAC TOPMed gnomAD
CA1462606 rs202101761	15	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1199680934 CA344928619	16	Q>*		No	ClinGen gnomAD
CA344928617 rs771509030	16	Q>L		No	ClinGen ExAC gnomAD
CA1462602 rs771509030	16	Q>P		No	ClinGen ExAC gnomAD
CA344928618 rs771509030	16	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	17	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344928599 rs745306306	17	E>K		No	ClinGen ExAC TOPMed gnomAD
rs745306306 CA1462601	17	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs903647965 CA39565656	20	N>S		No	ClinGen TOPMed gnomAD
CA1462579 rs748965587	20	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA344928424 rs1301117259	21	P>A		No	ClinGen TOPMed
CA1462578 rs777368645	21	P>L		No	ClinGen ExAC gnomAD
rs1207173754 CA344928370	23	D>G		No	ClinGen gnomAD
rs747342439 CA1462576	23	D>N		No	ClinGen ExAC TOPMed gnomAD
rs376433562 CA1462575	24	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1462574 rs758941421	26	R>C		No	ClinGen ExAC gnomAD
CA1462573 rs750569191	28	S>R		No	ClinGen ExAC gnomAD
rs1354516209 CA344928286	28	S>T		No	ClinGen gnomAD
CA344928255 rs1234350078	30	P>L		No	ClinGen gnomAD
TCGA novel	31	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779112192 CA1462572	33	Y>C		No	ClinGen ExAC
rs757363199 CA344928110	37	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA344928101 rs1571867497	38	V>G		No	ClinGen Ensembl
CA344928090 rs1322308950	39	A>S		No	ClinGen TOPMed gnomAD
CA344928070 rs1396296367	40	S>N		No	ClinGen gnomAD
rs1307667292 CA344928020	44	R>P		No	ClinGen TOPMed
CA1462568 rs760397557	45	G>S		No	ClinGen ExAC gnomAD
rs1419233603 CA344927905	51	G>S		No	ClinGen gnomAD
CA39565568 rs1023803626	53	T>A		No	ClinGen TOPMed
rs767397743 CA1462566	53	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	54	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1462564 rs112038793	54	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344927833 rs1214525542	55	R>G		No	ClinGen gnomAD
rs747400589 CA1462559	57	A>E		No	ClinGen ExAC TOPMed gnomAD
rs772864795 CA1462561	57	A>T		No	ClinGen ExAC gnomAD
rs747400589 CA1462560	57	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1571867294 CA344927788	58	S>A		No	ClinGen Ensembl
CA1462557 rs772503203	58	S>F		No	ClinGen ExAC gnomAD
CA1462556 rs746399225	59	L>F		No	ClinGen ExAC TOPMed gnomAD
CA344927765 rs1467321662	60	F>L		No	ClinGen TOPMed gnomAD
CA344927764 rs1467321662	60	F>V		No	ClinGen TOPMed gnomAD
rs757412621 CA1462554	62	S>F		No	ClinGen ExAC gnomAD
rs757412621 CA344927728	62	S>Y		No	ClinGen ExAC gnomAD
CA1462552 rs777912571	66	Q>H		No	ClinGen ExAC gnomAD
rs756352943 CA1462551	68	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA344927599 rs1271334537	70	V>A		No	ClinGen TOPMed
CA1462550 rs752487204	70	V>M		No	ClinGen ExAC TOPMed gnomAD
CA1462547 rs188788611	73	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs181926176 CA1462548	73	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1462543 rs184349413	75	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344927508 rs184349413	75	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772707307 CA1462544	75	P>S		No	ClinGen ExAC TOPMed gnomAD
CA344927494 rs1278619395	76	K>*		No	ClinGen gnomAD
CA1462523 rs199976960	78	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1462524 rs199976960	78	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344927334 rs201921614	79	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201921614 CA1462522	79	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs950468717 CA39565181	80	K>E		No	ClinGen Ensembl
rs768846936	82	T>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs774851152 CA1462517	84	R>W		No	ClinGen ExAC TOPMed gnomAD
rs771603978 CA1462516	87	E>V		No	ClinGen ExAC gnomAD
CA344927046 rs1205066459	89	E>Q		No	ClinGen gnomAD
rs773553793 CA1462514	90	S>I		No	ClinGen ExAC gnomAD
rs1252562505 CA344926986	91	T>P		No	ClinGen gnomAD
CA1462513 rs370731964	94	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1462512 rs781538865	96	R>*		No	ClinGen ExAC TOPMed gnomAD
rs781538865 CA1462511	96	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1291035941 CA344926771	97	P>A		No	ClinGen TOPMed gnomAD
CA1462509 rs746849926	97	P>L		No	ClinGen ExAC gnomAD
CA1462510 rs746849926	97	P>R		No	ClinGen ExAC gnomAD
CA344926774 rs1291035941	97	P>T		No	ClinGen TOPMed gnomAD
rs758137954 CA1462507	98	L>F		No	ClinGen ExAC TOPMed gnomAD
CA344926729 rs1389619241	99	S>*		No	ClinGen gnomAD
rs1416567704 CA344926675	100	Q>R		No	ClinGen TOPMed
rs1480414888 CA344926607	102	P>S		No	ClinGen TOPMed gnomAD
rs1480414888 CA344926615	102	P>T		No	ClinGen TOPMed gnomAD
rs377392338 CA1462505	103	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1014382139 CA344926526	104	K>E		No	ClinGen gnomAD
CA39565116 rs1014382139	104	K>Q		No	ClinGen gnomAD
rs1349563384 CA344926484	106	V>L		No	ClinGen TOPMed gnomAD
rs1349563384 CA344926485	106	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	108	A>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753274337 CA1462503	109	K>R		No	ClinGen ExAC TOPMed gnomAD
CA1462502 rs763904856	112	H>P		No	ClinGen ExAC gnomAD
CA1462501 rs760370786	115	A>S		No	ClinGen ExAC TOPMed gnomAD
rs747042720	118	K>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	119	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1462496 rs773783255	120	A>G		No	ClinGen ExAC gnomAD
CA344925978 rs1261719867	121	D>G		No	ClinGen TOPMed
rs778288823 CA344925966	122	R>G		No	ClinGen Ensembl
rs1447924291 CA344925962	122	R>K		No	ClinGen TOPMed
CA344923799 rs1251594884	124	S>N		No	ClinGen gnomAD
rs752241692 CA1462462	125	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA39561633 rs372028134	126	L>V		No	ClinGen ExAC gnomAD
CA344923724 rs375256617	127	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs375256617 CA1462460	127	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs901602018 CA39561623	128	S>R		No	ClinGen Ensembl
rs1278266934 CA344923690	128	S>T		No	ClinGen gnomAD
rs765545776 CA1462458	129	A>P		No	ClinGen ExAC gnomAD
rs1335821934 CA344923667	129	A>V		No	ClinGen gnomAD
rs529422842 CA1462457	131	L>S		No	ClinGen 1000Genomes ExAC gnomAD
rs764523518 CA1462455	132	E>K		No	ClinGen ExAC TOPMed gnomAD
rs764523518 CA344923620	132	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs372206805 CA1462454	133	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA344923564 rs1327691862	134	E>Q		No	ClinGen TOPMed
rs1399874062 CA344923547	135	I>N		No	ClinGen TOPMed gnomAD
rs369556503 CA1462453	136	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs369556503 CA344923536	136	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs375100629 CA1462452	138	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368492848 CA39561579	140	G>E		No	ClinGen ESP
CA1462451 CA344923462 rs371923949	140	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1471231724 CA344923426	141	Q>R		No	ClinGen gnomAD
CA1462450 rs774582552	142	K>E		No	ClinGen ExAC TOPMed gnomAD
rs770638100 CA1462449	142	K>T		No	ClinGen ExAC gnomAD
rs374619059 CA1462448	145	N>I		No	ClinGen ESP ExAC gnomAD
TCGA novel	145	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	146	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1462446 rs769851068	147	Q>H		No	ClinGen ExAC gnomAD
rs1222830913 CA344923265	149	G>V		No	ClinGen gnomAD
CA1462444 rs200657743	152	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1462443 rs780831112	156	K>R		No	ClinGen ExAC gnomAD
CA1462442 rs754464502	157	I>V		No	ClinGen ExAC gnomAD
rs1221423941 CA344923016	159	D>Y		No	ClinGen TOPMed
rs746674830 CA1462441	160	D>N		No	ClinGen ExAC gnomAD
TCGA novel	161	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1462439 rs199826982	163	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs754184060 CA1462438	164	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1326127708 CA344922916	165	V>A		No	ClinGen TOPMed gnomAD
rs1429848276 CA344922878	167	S>R		No	ClinGen gnomAD
CA344922843 rs1386433599	169	R>I		No	ClinGen TOPMed
CA1462435 rs756581141	170	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs752823459 CA1462434	171	K>N		No	ClinGen ExAC gnomAD
rs906098978 CA344922811	172	I>F		No	ClinGen TOPMed gnomAD
CA344922814 rs906098978	172	I>L		No	ClinGen TOPMed gnomAD
CA39561515 rs906098978	172	I>V		No	ClinGen TOPMed gnomAD
rs1452631141 CA344922792	173	Q>E		No	ClinGen gnomAD
CA344922785 rs373929216	173	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA344922788 rs1397196263	173	Q>R		No	ClinGen TOPMed gnomAD
CA1462432 rs759620209	175	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1239969577 CA344922680	177	E>A		No	ClinGen TOPMed
CA1462429 rs370629801	178	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1462428 rs773113664	179	E>Q		No	ClinGen ExAC gnomAD
rs776594400 CA1462425	182	K>N		No	ClinGen ExAC TOPMed gnomAD
CA1462423 rs768052595	184	E>V		No	ClinGen ExAC gnomAD
rs950057509 CA39561463	186	T>S		No	ClinGen Ensembl
rs1293072876 CA344922514	187	V>A		No	ClinGen TOPMed gnomAD
CA344922498 rs1197311942	188	F>C		No	ClinGen TOPMed
rs1271743232 CA344922481	189	V>A		No	ClinGen TOPMed gnomAD
rs755080982 CA39561453	189	V>F		No	ClinGen ExAC TOPMed gnomAD
CA39561458 rs755080982	189	V>I		No	ClinGen ExAC TOPMed gnomAD
rs755080982 CA1462422	189	V>L		No	ClinGen ExAC TOPMed gnomAD
rs754012030 CA1462421	190	G>V		No	ClinGen ExAC TOPMed gnomAD
rs917341772 CA39561424	192	L>F		No	ClinGen Ensembl
CA344922357 rs1433005906	196	C>F		No	ClinGen gnomAD
rs749691967 CA1462419	197	N>D		No	ClinGen ExAC gnomAD
CA344921692 rs771759839	201	L>Q		No	ClinGen ExAC gnomAD
CA1462398 rs771759839	201	L>R		No	ClinGen ExAC gnomAD
CA1462396 rs778495315	203	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA344921653 rs1479352779	203	S>T		No	ClinGen TOPMed gnomAD
CA344921617 rs1192429744	204	F>L		No	ClinGen gnomAD
rs1333621097 CA344921592	205	F>L		No	ClinGen gnomAD
CA1462394 rs374101025	208	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1462393 rs781617624	213	S>A		No	ClinGen ExAC gnomAD
CA344921435 rs781617624	213	S>T		No	ClinGen ExAC gnomAD
rs377072609 CA39559785	215	R>*		No	ClinGen ESP gnomAD
rs1228009308 CA344921410	215	R>P		No	ClinGen TOPMed
CA1462391 rs751640675	217	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs372663591 CA1462390	217	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1208136183 CA344921364	218	S>F		No	ClinGen TOPMed
TCGA novel	220	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1462363 rs752682269	223	E>D		No	ClinGen ExAC gnomAD
rs1374639646 CA344920436	224	G>R		No	ClinGen TOPMed
CA1462361 rs759114699	225	T>A		No	ClinGen ExAC
rs374546141 CA1462360	225	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA344920407 rs762689756	226	L>P		No	ClinGen ExAC gnomAD
CA1462358 rs762689756	226	L>R		No	ClinGen ExAC gnomAD
CA344920354 rs1391244067	230	L>F		No	ClinGen gnomAD
CA1462354 rs747281847	231	A>S		No	ClinGen ExAC gnomAD
rs747281847 CA344920350	231	A>T		No	ClinGen ExAC gnomAD
rs776193387 CA1462353	232	A>T		No	ClinGen ExAC TOPMed gnomAD
rs372922102 CA1462326	235	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1462325 rs775961717	235	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1268535863 CA344941602	238	H>L		No	ClinGen TOPMed gnomAD
CA344941617 rs267598423	238	H>N		No	ClinGen gnomAD
CA39583459 rs267598423	238	H>Y		No	ClinGen gnomAD
rs760139583 CA1462324	239	P>A		No	ClinGen ExAC TOPMed gnomAD
CA1462322 rs774957624 COSM1501730	239	P>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs760139583 CA1462323	239	P>S		No	ClinGen ExAC TOPMed gnomAD
CA344941554 rs1448536611	240	D>E		No	ClinGen gnomAD
CA1462321 rs771045450	241	Q>E		No	ClinGen ExAC gnomAD
rs778114055 CA1462320	243	N>S		No	ClinGen ExAC gnomAD
CA1462319 rs778114055	243	N>T		No	ClinGen ExAC gnomAD
rs568128662 CA1462317	244	I>T		No	ClinGen ExAC gnomAD
CA344941429 rs1469515256	245	N>S		No	ClinGen gnomAD
rs1176810708 CA344941393	247	Y>F		No	ClinGen gnomAD
CA1462315 rs754729957	249	V>M		No	ClinGen ExAC
rs1326398402 CA344941320	250	F>I		No	ClinGen TOPMed
TCGA novel	253	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751506103 CA1462314	254	S>T		No	ClinGen ExAC gnomAD
rs375092677 CA1462313	255	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs185627414 CA1462312	257	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs761532312 CA1462309	260	L>M		No	ClinGen ExAC gnomAD
CA344940904 rs1350502136	261	K>E		No	ClinGen TOPMed gnomAD
CA1462308 rs753489817	262	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1353788213 CA344940610	264	G>W		No	ClinGen gnomAD
CA344940567 rs1163449109	265	A>V		No	ClinGen TOPMed
CA344940559 rs1231632833	266	Q>*		No	ClinGen gnomAD
rs756784066 CA1462292	266	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA1462291 rs753543300	267	I>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	270	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1275247779 CA344940457	270	G>V		No	ClinGen gnomAD
CA344940448 rs1429738201	271	F>Y		No	ClinGen gnomAD
COSM1223363 CA1462290 rs746050670	272	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1462289 rs367844001	272	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA344940397 rs1421660507	273	I>F		No	ClinGen gnomAD
CA1462288 rs751865799	274	R>T		No	ClinGen ExAC gnomAD
CA344940304 rs1440942695	275	V>A		No	ClinGen TOPMed
rs376789873 CA1462287	277	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs765307260 CA1462284	278	A>S		No	ClinGen ExAC TOPMed gnomAD
rs765307260 CA39583127	278	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1475289696 CA344940152	279	S>F		No	ClinGen gnomAD
CA344940171 rs1192179879	279	S>P		No	ClinGen gnomAD
CA344940117 rs1360155554	281	T>I		No	ClinGen TOPMed
rs778841894 CA1462275	285	D>V		No	ClinGen ExAC TOPMed gnomAD
rs913255595 CA39582127	286	K>E		No	ClinGen gnomAD
CA39582118 rs990164414	287	R>G		No	ClinGen Ensembl
CA1462272 rs755807240	288	S>*		No	ClinGen ExAC gnomAD
rs755807240 CA1462271	288	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA344939334 rs1409545798	288	S>T		No	ClinGen gnomAD
CA1462270 rs755807240	288	S>W		No	ClinGen ExAC gnomAD
CA344939268 rs1572142981	291	V>E		No	ClinGen Ensembl
rs766687455 CA1462268	291	V>M		No	ClinGen ExAC gnomAD
CA344939243 rs1257411746	292	G>E		No	ClinGen gnomAD
CA1462267 rs758723314	293	N>K		No	ClinGen ExAC gnomAD
rs1485602134 CA344939222	293	N>S		No	ClinGen gnomAD
rs1237749515 CA344939211	294	L>F		No	ClinGen gnomAD
CA344939017 rs747761908	300	E>*		No	ClinGen ExAC TOPMed gnomAD
rs780840491 CA1462248	300	E>G		No	ClinGen ExAC gnomAD
rs747761908 CA1462249	300	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1181699219 CA344939001	301	S>P		No	ClinGen TOPMed
TCGA novel	302	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750798921 CA1462246	303	I>T		No	ClinGen ExAC TOPMed gnomAD
rs758750404 CA1462247	303	I>V		No	ClinGen ExAC TOPMed gnomAD
rs765777960 CA1462245	304	E>G		No	ClinGen ExAC gnomAD
rs931270824 CA39581815	306	H>R		No	ClinGen TOPMed gnomAD
rs754290166 CA1462243	307	F>L		No	ClinGen ExAC gnomAD
rs1166501527 CA344938876	307	F>S		No	ClinGen TOPMed
CA39581798 rs907387674	309	D>G		No	ClinGen Ensembl
rs760738823 CA1462241	313	I>T		No	ClinGen ExAC gnomAD
rs767765311 CA1462239	314	M>V		No	ClinGen ExAC TOPMed gnomAD
rs573981245 CA1462237	315	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA1462233 rs374992259	316	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1462235 rs368049743	316	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1462234 rs368049743	316	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1558136776 CA344938718	317	R>S		No	ClinGen Ensembl
TCGA novel	318	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1462230 rs780778276	320	R>S		No	ClinGen ExAC TOPMed gnomAD
CA1462231 rs747683049	320	R>T		No	ClinGen ExAC gnomAD
CA344938667 rs1418348187	321	D>A		No	ClinGen gnomAD
rs1418348187 CA344938666	321	D>G		No	ClinGen gnomAD
rs1298112732 CA344938673	321	D>N		No	ClinGen gnomAD
rs537362399 CA1462227	323	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537362399 CA1462228	323	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1462226 rs779268292	325	G>A		No	ClinGen ExAC gnomAD
CA344938581 rs1236167581	326	I>N		No	ClinGen gnomAD
rs759685290 CA39581683	327	G>R		No	ClinGen TOPMed
CA344938565 rs759685290	327	G>S		No	ClinGen TOPMed
rs1443120953 CA344938560	328	K>Q		No	ClinGen gnomAD
CA1462224 rs754345170	332	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs754345170 CA344938466	332	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs776909443 CA1462223	333	V>M		No	ClinGen ExAC TOPMed gnomAD
rs989161682 CA39581682	334	L>F		No	ClinGen TOPMed gnomAD
rs1483678534 CA344936802	340	S>T		No	ClinGen gnomAD
CA1462201 rs375776522	341	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA39578754 rs901895122	342	H>R		No	ClinGen TOPMed gnomAD
rs781364855 CA1462199	342	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA1462198 rs372566500	343	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA1462197 rs751845741	343	L>R		No	ClinGen ExAC TOPMed gnomAD
CA1462196 rs370366001	345	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	345	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1338203275 CA344936442	348	N>H		No	ClinGen gnomAD
CA1462195 rs758338651	348	N>S		No	ClinGen ExAC TOPMed gnomAD
CA344936333 rs1329108068	350	S>F		No	ClinGen gnomAD
CA344936350 rs1399028939	350	S>T		No	ClinGen gnomAD
CA1462191 rs537801075	353	M>K		No	ClinGen ExAC TOPMed gnomAD
rs912438626 CA39578740	353	M>L		No	ClinGen Ensembl
rs537801075 CA344936250	353	M>R		No	ClinGen ExAC TOPMed gnomAD
CA344936230 rs867063445	354	G>A		No	ClinGen TOPMed
rs867063445 CA39578709	354	G>E		No	ClinGen TOPMed
rs1401024210 CA344936238	354	G>R		No	ClinGen TOPMed gnomAD
CA344936060 rs1189651623	360	M>V		No	ClinGen gnomAD
CA1462189 rs200568508	361	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761837567 CA1462188	361	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs761837567 CA39578702	361	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1412767267 CA344935957	363	V>A		No	ClinGen TOPMed
CA1462187 rs776388084	363	V>I		No	ClinGen ExAC gnomAD
rs776388084 CA344935970	363	V>L		No	ClinGen ExAC gnomAD
rs1175470610 CA344935933	364	N>S		No	ClinGen TOPMed
rs1459360912 CA344935921	365	K>E		No	ClinGen gnomAD
CA344935791 COSM905792 rs1285468691	368	F>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1318918350 CA344935742	370	Q>H		No	ClinGen TOPMed
CA1462181 rs749691830	373	S>*		No	ClinGen ExAC TOPMed gnomAD
CA1462182 rs771706589	373	S>A		No	ClinGen ExAC gnomAD
CA1462180 rs773603444	376	R>*		No	ClinGen ExAC TOPMed gnomAD
CA1462179 rs530408862	376	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs530408862 CA1462178	376	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA1462176 rs755167793	377	L>W		No	ClinGen ExAC gnomAD
rs1042986588 CA39578638	378	K>T		No	ClinGen TOPMed
CA344935604 rs1277345399	380	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA1462175 rs747083919	381	S>N		No	ClinGen ExAC gnomAD
CA344935549 rs1572137490	382	K>N		No	ClinGen Ensembl
CA344935533 rs1558134123	383	P>L		No	ClinGen Ensembl
rs758675388 CA1462173	383	P>S		No	ClinGen ExAC gnomAD
CA344935512 rs1441702004	384	K>N		No	ClinGen gnomAD
TCGA novel	390	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1055441644 CA39578581	390	T>I		No	ClinGen TOPMed gnomAD
rs750628366 CA1462171	392	K>N		No	ClinGen ExAC gnomAD
CA344935323 rs1233845743	392	K>R		No	ClinGen gnomAD
CA1462170 rs765116198	393	T>I		No	ClinGen ExAC gnomAD
rs1292606787 CA344935309	394	A>T		No	ClinGen gnomAD
CA344935162 rs1464329452	398	P>H		No	ClinGen TOPMed
rs1209982649 CA344935142	399	K>E		No	ClinGen gnomAD
rs1209982649 CA344935147	399	K>Q		No	ClinGen gnomAD
rs756931559 CA1462169	399	K>R		No	ClinGen ExAC gnomAD
CA1462168 rs753823792	400	S>N		No	ClinGen ExAC TOPMed gnomAD
CA344935075 rs1250073097	400	S>R		No	ClinGen TOPMed
rs773410897	402	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1241913002 CA344935034	402	F>S		No	ClinGen gnomAD
rs1553272089 CA1462166	403	I>V		No	ClinGen Ensembl
CA344934925 rs1433993664	407	A>T		No	ClinGen gnomAD
CA39578528 rs999681534	407	A>V		No	ClinGen TOPMed
CA1462165 rs763921760	409	L>F		No	ClinGen ExAC gnomAD
TCGA novel	409	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA39578517 rs966838549	410	L>R		No	ClinGen TOPMed
CA1462162 rs774948043	411	K>T		No	ClinGen ExAC TOPMed gnomAD
CA1462160 COSM905790 rs188131274	412	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs773809286 CA1462158	413	K>R		No	ClinGen ExAC gnomAD
rs551130155 CA1462157	415	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA344934709 rs1172399127	416	G>R		No	ClinGen gnomAD
CA39578453 rs774170386	418	K>R		No	ClinGen Ensembl
rs940879740 CA39578446	419	K>E		No	ClinGen TOPMed
CA344934549 rs1200796029	421	G>R		No	ClinGen gnomAD
rs909374532 COSM176602 CA39578443	422	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs777263723 CA1462154	422	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs953630468 CA39578439	424	K>E		No	ClinGen TOPMed
CA344934403 rs1572137187	426	Q>H		No	ClinGen Ensembl
rs769257062 CA39578438	427	R>K		No	ClinGen ExAC gnomAD
rs769257062 CA1462153	427	R>T		No	ClinGen ExAC gnomAD
CA1462152 rs183788622	428	K>E		No	ClinGen 1000Genomes ExAC gnomAD

No associated diseases with P42696

3 regional properties for P42696

Type	Name	Position	InterPro Accession
domain	RNA recognition motif domain	185 - 280	IPR000504-1
domain	RNA recognition motif domain	287 - 364	IPR000504-2
domain	RBM34, RNA recognition motif 2	288 - 360	IPR034221

Functions

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

3 GO annotations of cellular component

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

1 GO annotations of molecular function

Name	Definition
RNA binding	Binding to an RNA molecule or a portion thereof.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8N9W6	BOLL	Protein boule-like	Homo sapiens (Human)	PR
Q05CL8	Larp7	La-related protein 7	Mus musculus (Mouse)	PR
Q924M5	Boll	Protein boule-like	Mus musculus (Mouse)	PR
Q8C854	Myef2	Myelin expression factor 2	Mus musculus (Mouse)	PR
Q5XI01	Larp7	La-related protein 7	Rattus norvegicus (Rat)	PR
Q9S7N9	CID12	Polyadenylate-binding protein-interacting protein 12	Arabidopsis thaliana (Mouse-ear cress)	PR
Q93ZV7	LA1	La protein 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q4KM14	trnau1apl	tRNA selenocysteine 1-associated protein 1-like	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MALEGMSKRK	RKRSVQEGEN	PDDGVRGSPP	EDYRLGQVAS	SLFRGEHHSR	GGTGRLASLF
70	80	90	100	110	120
SSLEPQIQPV	YVPVPKQTIK	KTKRNEEEES	TSQIERPLSQ	EPAKKVKAKK	KHTNAEKKLA
130	140	150	160	170	180
DRESALASAD	LEEEIHQKQG	QKRKNSQPGV	KVADRKILDD	TEDTVVSQRK	KIQINQEEER
190	200	210	220	230	240
LKNERTVFVG	NLPVTCNKKK	LKSFFKEYGQ	IESVRFRSLI	PAEGTLSKKL	AAIKRKIHPD
250	260	270	280	290	300
QKNINAYVVF	KEESAATQAL	KRNGAQIADG	FRIRVDLASE	TSSRDKRSVF	VGNLPYKVEE
310	320	330	340	350	360
SAIEKHFLDC	GSIMAVRIVR	DKMTGIGKGF	GYVLFENTDS	VHLALKLNNS	ELMGRKLRVM
370	380	390	400	410	420
RSVNKEKFKQ	QNSNPRLKNV	SKPKQGLNFT	SKTAEGHPKS	LFIGEKAVLL	KTKKKGQKKS

GRPKKQRKQK