AiPD: Autoinhibited Protein Database

Q12926

Gene name	ELAVL2 (HUB)
Protein name	ELAV-like protein 2
Names	ELAV-like neuronal protein 1, Hu-antigen B, HuB, Nervous system-specific RNA-binding protein Hel-N1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1993
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-63 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-63 (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 Q12926

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q12926-F1	Predicted				AlphaFoldDB

280 variants for Q12926

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	2	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	4	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778937550 CA5013361	4	Q>R		No	ClinGen ExAC gnomAD
CA372928094 rs1396032042	6	S>C		No	ClinGen gnomAD
CA5013358 rs766358082	9	P>L		No	ClinGen ExAC gnomAD
rs1475666825 CA372928073	10	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs750681647 CA372928065	11	C>F		No	ClinGen ExAC gnomAD
CA5013357 rs756428913	11	C>R		No	ClinGen ExAC gnomAD
rs935812481 CA191445062	11	C>W		No	ClinGen TOPMed
CA5013356 rs750681647	11	C>Y		No	ClinGen ExAC gnomAD
CA5013355 rs547120448	12	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547120448 CA372928060	12	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	13	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1436458683 COSM317278 CA372928043	14	T>I	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1588211557 CA372928048	14	T>P		No	ClinGen Ensembl
rs1436458683 CA372928044	14	T>R		No	ClinGen TOPMed gnomAD
rs774818542 CA5013353	15	A>S		No	ClinGen ExAC gnomAD
CA372928038 rs1453869837	15	A>V		No	ClinGen gnomAD
rs764703332 CA5013352	16	N>K		No	ClinGen ExAC gnomAD
CA372928033 rs1298737540	16	N>S		No	ClinGen TOPMed
rs1301868293 CA372928022	18	P>S		No	ClinGen gnomAD
rs76025658 CA5013351	19	T>A		No	ClinGen ExAC gnomAD
CA191445061 rs76025658	19	T>P		No	ClinGen ExAC gnomAD
CA372928013 rs1455394705	20	T>A		No	ClinGen TOPMed gnomAD
CA372928007 rs1326052903	21	I>V		No	ClinGen TOPMed
CA5013349 rs770351813	23	N>K		No	ClinGen ExAC gnomAD
CA191445060 rs971054370	24	N>S		No	ClinGen gnomAD
CA372927978 rs1327859837	25	C>R		No	ClinGen TOPMed gnomAD
rs1327859837 CA372927977	25	C>S		No	ClinGen TOPMed gnomAD
TCGA novel	25	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201050464 CA5013347	26	S>A		No	ClinGen ExAC TOPMed gnomAD
CA5013345 COSM168126 rs146832864	26	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5013346 rs146832864	26	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1395723281 CA372927963	27	S>L		No	ClinGen gnomAD
rs778548697 CA5013344	28	P>S		No	ClinGen ExAC gnomAD
rs768699756 CA5013343	29	V>F		No	ClinGen ExAC gnomAD
CA372927956 rs768699756	29	V>L		No	ClinGen ExAC gnomAD
CA372927948 rs1232519231	30	D>G		No	ClinGen gnomAD
TCGA novel	33	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5013342 rs749180793	34	T>I		No	ClinGen ExAC
rs996615141 CA191445059	34	T>P		No	ClinGen TOPMed gnomAD
rs996615141 CA372927923	34	T>S		No	ClinGen TOPMed gnomAD
TCGA novel	35	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5013341 rs779978734	35	E>Q		No	ClinGen ExAC gnomAD
rs571849626 CA5013339	36	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA5013340 rs756279278	36	D>H		No	ClinGen ExAC TOPMed gnomAD
rs756279278 CA191445058	36	D>N		No	ClinGen ExAC TOPMed gnomAD
CA372927902 rs1303422810	37	S>R		No	ClinGen gnomAD
CA372927905 rs1203720706	37	S>T		No	ClinGen TOPMed
rs1442715870 CA372927842	46	L>V		No	ClinGen gnomAD
TCGA novel	47	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372927831 rs1442587497	47	P>L		No	ClinGen TOPMed
rs973982451 CA191445057	49	N>D		No	ClinGen Ensembl
rs1246996107 CA372927810	50	M>I		No	ClinGen gnomAD
rs753157617 CA5013334	50	M>L		No	ClinGen ExAC TOPMed gnomAD
rs753157617 CA5013333	50	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1311024648 CA372927801	52	Q>E		No	ClinGen gnomAD
rs1203072171 CA372927780	54	E>D		No	ClinGen TOPMed gnomAD
TCGA novel	56	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1175681540 CA372927773	56	K>Q		No	ClinGen gnomAD
rs1158795570 CA372927756	58	L>V		No	ClinGen TOPMed
CA191445055 rs962202223	60	G>E		No	ClinGen Ensembl
rs376408000 CA5013330	61	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA191445054 rs372647096	62	I>N		No	ClinGen ESP TOPMed gnomAD
rs372647096 CA191445053	62	I>T		No	ClinGen ESP TOPMed gnomAD
rs771757755 CA5013329	62	I>V		No	ClinGen ExAC
rs868338397 CA191445052	63	G>N		No	ClinGen Ensembl
rs768344657 CA5013326	65	I>M		No	ClinGen ExAC TOPMed gnomAD
CA5013327 rs774272387	65	I>T		No	ClinGen ExAC gnomAD
CA372927713 rs1255793698	65	I>V		No	ClinGen gnomAD
CA191445051 rs190734364	66	E>Q		No	ClinGen 1000Genomes gnomAD
CA191445050 rs774235866	69	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA372927665 rs1436036336	72	R>K		No	ClinGen Ensembl
TCGA novel	74	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372927632 rs1451995459 COSM1700996	77	G>R	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
CA372926673 rs1465843553	88	I>F		No	ClinGen TOPMed gnomAD
CA5013295 rs766817780	88	I>N		No	ClinGen ExAC TOPMed gnomAD
rs1465843553 CA372926674	88	I>V		No	ClinGen TOPMed gnomAD
CA5013294 rs756743746 COSM1554785	90	P>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA372926652 rs1266933047	91	K>R		No	ClinGen TOPMed gnomAD
CA5013292 rs763694343	92	D>E		No	ClinGen ExAC gnomAD
CA5013290 rs775208518	94	E>G		No	ClinGen ExAC gnomAD
rs146552956 CA5013291	94	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	97	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5013287 rs144215783	97	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA372926608 rs1393344685	98	N>D		No	ClinGen gnomAD
rs1009088732 CA191440220	100	L>V		No	ClinGen Ensembl
CA372926588 rs1564135925	101	N>S		No	ClinGen Ensembl
rs200136989 CA191440219	102	G>R		No	ClinGen 1000Genomes
CA191440218 rs762647793	106	Q>E		No	ClinGen Ensembl
rs1442631589 CA372926532	109	T>I		No	ClinGen TOPMed
rs1235390231 CA372926526	110	I>M		No	ClinGen TOPMed
CA5013283 rs566780928	110	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372929145 rs1347177961	114	Y>C		No	ClinGen gnomAD
TCGA novel	114	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	115	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	116	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372929099 rs1197791365	121	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1238539976 CA372929083	124	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA372929074 rs1587405213	125	A>S		No	ClinGen Ensembl
rs757945458 CA5013257	128	Y>C		No	ClinGen ExAC gnomAD
CA372929029 rs190640430	131	G>E		No	ClinGen 1000Genomes gnomAD
CA191436226 rs190640430	131	G>V		No	ClinGen 1000Genomes gnomAD
rs1224210450 CA372929027	132	L>V		No	ClinGen TOPMed
CA5013255 rs778744173	133	P>L		No	ClinGen ExAC gnomAD
rs1414581753 CA372929022	133	P>T		No	ClinGen TOPMed gnomAD
CA191436225 rs373602728	134	K>E		No	ClinGen ESP TOPMed
TCGA novel	134	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA191436224 rs373602728	134	K>Q		No	ClinGen ESP TOPMed
rs368330671 CA5013254	135	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	135	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368330671 CA191436223	135	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA191436222 rs961860090	137	T>S		No	ClinGen Ensembl
rs1412439607 CA372928986	138	Q>H		No	ClinGen gnomAD
CA191436220 rs372183542 CA5013251	140	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1008572347 CA191436221	140	E>V		No	ClinGen Ensembl
CA191436219 rs1050720261	142	E>D		No	ClinGen Ensembl
CA372928964 rs1256772891	142	E>Q		No	ClinGen gnomAD
rs996274130 CA191436218	143	Q>E		No	ClinGen gnomAD
CA372928958 rs996274130	143	Q>K		No	ClinGen gnomAD
rs746936739 CA191436217	143	Q>R		No	ClinGen Ensembl
CA372928947 rs1406913817	144	L>R		No	ClinGen TOPMed
rs867331367 CA191436216	146	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs774384105 CA5013248	147	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1298887444 CA372928921	148	Y>C		No	ClinGen TOPMed
TCGA novel	148	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs568766646 COSM1497089 CA5013246	150	R>C	kidney Variant assessed as Somatic; 0.0 impact. oesophagus [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs568766646 CA191436214	150	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1270239548 CA372928910	150	R>H	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA372928911 rs1270239548	150	R>L		No	ClinGen TOPMed gnomAD
CA5013245 rs528481339	151	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA5013243 rs770201356	154	S>F		No	ClinGen ExAC gnomAD
COSM1723537 CA372928882 rs1563970615	155	R>C	NS Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA372928879 rs1341756308	155	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	156	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1358307500 CA372928877	156	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	157	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372928856 rs1587402325	159	D>A		No	ClinGen Ensembl
rs1388995607 CA372928853	159	D>E		No	ClinGen gnomAD
CA5013240 rs771308416	160	Q>P		No	ClinGen ExAC gnomAD
rs773876308	163	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA372928831 rs149957439	163	G>C		No	ClinGen ESP
CA191436212 rs149957439	163	G>S		No	ClinGen ESP
rs201612079 CA5013202	164	I>V		No	ClinGen ExAC TOPMed gnomAD
COSM3413566 rs748871054 CA5013201	167	G>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC
rs139149645 CA5013200	168	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs139149645 CA191435640	168	V>L		No	ClinGen ESP ExAC gnomAD
TCGA novel	170	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5013198 rs745506172	171	I>F		No	ClinGen ExAC gnomAD
rs867496241 CA191435639	172	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA5013197 rs780759086	173	F>L		No	ClinGen ExAC TOPMed gnomAD
COSM183494 rs1311075672 CA372928731	177	I>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs200338929 CA191435638	177	I>V		No	ClinGen TOPMed
rs1220544943 CA372928695	182	A>G		No	ClinGen gnomAD
rs1220544943 CA372928694	182	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	183	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5013193 rs758305724	185	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA191435637 rs867514178	188	G>C		No	ClinGen Ensembl
CA372928651 rs1255911286	189	Q>P		No	ClinGen TOPMed
rs1310968633 CA372928642	190	K>N		No	ClinGen gnomAD
CA5013191 rs778853662	190	K>Q		No	ClinGen ExAC gnomAD
rs954003811 CA191435636	191	P>L		No	ClinGen gnomAD
TCGA novel	192	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755017058 CA5013190	192	P>L		No	ClinGen ExAC TOPMed gnomAD
CA191435635 rs201547434 COSM1251102	193	G>C	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5013187 rs761154160	193	G>D		No	ClinGen ExAC gnomAD
rs201547434 CA5013188	193	G>R		No	ClinGen ExAC TOPMed gnomAD
CA372928630 rs201547434	193	G>S		No	ClinGen ExAC TOPMed gnomAD
rs199582251 CA372928618	195	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5013186 rs199582251	195	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762214108 CA5013184	197	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1031432624 CA191435634	198	I>V		No	ClinGen gnomAD
rs1310967478 CA372928596	199	T>A		No	ClinGen TOPMed
rs769195286 CA372928591	200	V>I		No	ClinGen ExAC gnomAD
CA5013182 rs769195286	200	V>L		No	ClinGen ExAC gnomAD
CA372928580 rs767197833	201	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1587325713 CA372928577	202	F>L		No	ClinGen Ensembl
CA372928552 rs1587325612	205	N>T		No	ClinGen Ensembl
CA372928529 rs1375725117	208	Q>R		No	ClinGen TOPMed
TCGA novel	210	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1438739171 CA372928510	211	N>D		No	ClinGen gnomAD
rs923702807 CA191435633	211	N>S		No	ClinGen TOPMed gnomAD
CA372928493 rs1227617741	213	A>G		No	ClinGen gnomAD
rs746852182 CA5013178	213	A>S		No	ClinGen ExAC TOPMed gnomAD
rs746852182 CA372928496	213	A>T		No	ClinGen ExAC TOPMed gnomAD
rs147394347 CA372928491	214	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA372928490 rs147394347	214	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs147394347 CA5013176	214	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs778851944 COSM1700993 CA5013174	215	L>F	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	216	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs954397537 CA191435632	217	Q>H		No	ClinGen TOPMed
rs1587324233 RCV000999147 CA372928446	219	Y>*		No	ClinGen ClinVar Ensembl dbSNP
CA5013172 rs753913440	219	Y>C		No	ClinGen ExAC gnomAD
rs1416075827 CA372928442	220	Q>E		No	ClinGen gnomAD
CA5013171 rs780465313	220	Q>R		No	ClinGen ExAC gnomAD
CA372928403 rs1416580522	223	N>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs200231541 CA191435631	225	R>K		No	ClinGen 1000Genomes gnomAD
CA5013167 rs762174611	226	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA372928342 rs1176233896	227	P>A		No	ClinGen TOPMed
rs1247072947 CA372928331	228	G>E		No	ClinGen gnomAD
rs1045462141 CA191435630	229	P>Q		No	ClinGen TOPMed gnomAD
CA5013166 rs752023416	229	P>S		No	ClinGen ExAC TOPMed gnomAD
CA372928315 rs1430179728	230	L>V		No	ClinGen TOPMed
CA372928304 rs1322318054	231	A>T		No	ClinGen gnomAD
rs1212927629 CA372928279	232	Q>H		No	ClinGen gnomAD
rs772784712 CA5013160	236	R>C		No	ClinGen ExAC gnomAD
CA5013159 rs771776728	236	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5013157 rs774198506	237	F>L		No	ClinGen ExAC gnomAD
TCGA novel	241	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768535058 CA5013139	241	N>S		No	ClinGen ExAC gnomAD
CA372927588 rs1433584550	242	L>V		No	ClinGen TOPMed gnomAD
CA372927583 rs1269135048	243	L>V		No	ClinGen gnomAD
CA372927575 rs1396481202	244	N>T		No	ClinGen TOPMed
rs749233048 CA5013138	247	Y>C		No	ClinGen ExAC gnomAD
rs749233048 CA372927551	247	Y>F		No	ClinGen ExAC gnomAD
CA372927552 rs749233048	247	Y>S		No	ClinGen ExAC gnomAD
rs770010735 CA5013136	248	G>A		No	ClinGen ExAC gnomAD
rs1587143378 CA372927538	249	V>G		No	ClinGen Ensembl
CA5013104 rs780752096	254	P>S		No	ClinGen ExAC gnomAD
CA372927467 rs1208296184	256	T>I		No	ClinGen gnomAD
rs745746759 CA191434303	257	I>V		No	ClinGen TOPMed
rs1270343472 CA372927445	260	M>V		No	ClinGen gnomAD
rs1208422696 CA372927426	262	S>I		No	ClinGen gnomAD
CA5013102 rs751239055	264	A>V		No	ClinGen ExAC gnomAD
TCGA novel	265	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762876969 CA5013101	268	I>N		No	ClinGen ExAC gnomAD
CA5013100 rs762876969	268	I>S		No	ClinGen ExAC gnomAD
CA191434301 rs919809758	273	G>A		No	ClinGen gnomAD
rs759539991 CA5013097	274	T>R		No	ClinGen ExAC gnomAD
rs765320944 CA5013098	274	T>S		No	ClinGen ExAC gnomAD
rs972436507 CA191434300	278	I>V		No	ClinGen Ensembl
CA372927318 rs1322365137	279	F>Y		No	ClinGen gnomAD
rs868079559 CA191434299	282	N>S		No	ClinGen TOPMed
CA191434297 rs202026503	284	A>G		No	ClinGen Ensembl
CA191434298 rs776361348	284	A>P		No	ClinGen ExAC TOPMed gnomAD
rs776361348 CA5013096	284	A>T		No	ClinGen ExAC TOPMed gnomAD
rs771053390 CA372927283	285	P>A		No	ClinGen ExAC gnomAD
rs771053390 CA5013095	285	P>S		No	ClinGen ExAC gnomAD
CA372927272 CA372927273 rs142761114	286	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1319663249 CA372927279	286	D>N		No	ClinGen gnomAD
CA372927271 rs1188175446	287	A>T	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1182927791 CA372927268	287	A>V		No	ClinGen TOPMed
rs1450401260 CA372927254	289	E>V		No	ClinGen gnomAD
CA372927239 rs1250114251	291	I>V		No	ClinGen gnomAD
CA372927206 rs1364245900	295	M>I		No	ClinGen TOPMed
CA372927211 rs1197254520	295	M>V		No	ClinGen gnomAD
COSM310852 CA372927188 rs771275882	298	P>A	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA191434295 rs771275882	298	P>S		No	ClinGen TOPMed
rs772248460 CA5013092	313	T>S		No	ClinGen ExAC gnomAD
rs748559012 CA5013091	315	K>E		No	ClinGen ExAC gnomAD
rs769220559 CA5013089	316	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749807482 CA5013088	317	K>N		No	ClinGen ExAC gnomAD
CA5013087 rs780367763	320	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA372927013 rs1324144710	324	M>V		No	ClinGen gnomAD
rs1406956244 CA372927001	325	T>R		No	ClinGen gnomAD
CA191434292 rs936518599	326	N>S		No	ClinGen TOPMed
CA372926977 rs1400022181	328	D>E		No	ClinGen Ensembl
rs1168099517 CA372926961	331	A>T		No	ClinGen gnomAD
CA372926957 rs1162278674	331	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1587127362 CA372926953	332	M>R		No	ClinGen Ensembl
rs765126760 CA5013081	338	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5013080 rs759191278	341	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5013079 rs753832085 COSM160685	341	R>H	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA191434291 rs753832085	341	R>L		No	ClinGen ExAC gnomAD
COSM3092395 rs759191278 CA372926892	341	R>S	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA191434290 rs774368251	345	R>K		No	ClinGen Ensembl
rs1587126619 CA372926859	346	V>G		No	ClinGen Ensembl
rs1251699027 CA372926857	347	L>M		No	ClinGen gnomAD
CA191434289 rs10966026	348	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA372926843 rs1587126325	349	V>G		No	ClinGen Ensembl
rs767784499 CA5013075	353	T>K		No	ClinGen ExAC gnomAD
rs762019303 CA5013074	354	N>D		No	ClinGen ExAC gnomAD
CA372926802 rs1474514356	355	K>T		No	ClinGen TOPMed gnomAD
CA5013073 rs774492078 COSM77641	356	T>M	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	357	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5013072 rs769022384	357	H>P		No	ClinGen ExAC gnomAD
rs1348606368 CA372926787	357	H>Q		No	ClinGen gnomAD
rs1202482443 CA372926791	357	H>Y		No	ClinGen TOPMed
rs1332383120 CA372926785	358	K>E		No	ClinGen Ensembl
rs1307301942 CA372926776	359	A>S		No	ClinGen gnomAD

No associated diseases with Q12926

5 regional properties for Q12926

Type	Name	Position	InterPro Accession
domain	RNA recognition motif domain	39 - 117	IPR000504-1
domain	RNA recognition motif domain	125 - 205	IPR000504-2
domain	RNA recognition motif domain	276 - 354	IPR000504-3
domain	HuB, RNA recognition motif 3	273 - 358	IPR034914
domain	HuB, RNA recognition motif 2	120 - 203	IPR034999

Functions

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

2 GO annotations of cellular component

Name	Definition
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
ribonucleoprotein complex	A macromolecular complex that contains both RNA and protein molecules.

2 GO annotations of molecular function

Name	Definition
mRNA 3'-UTR binding	Binding to a 3' untranslated region of an mRNA molecule.
RNA binding	Binding to an RNA molecule or a portion thereof.

1 GO annotations of biological process

Name	Definition
regulation of DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q14576	ELAVL3	ELAV-like protein 3	Homo sapiens (Human)	PR
P26378	ELAVL4	ELAV-like protein 4	Homo sapiens (Human)	PR
O75821	EIF3G	Eukaryotic translation initiation factor 3 subunit G	Homo sapiens (Human)	PR
Q7TPD6	Raver2	Ribonucleoprotein PTB-binding 2	Mus musculus (Mouse)	PR
Q60900	Elavl3	ELAV-like protein 3	Mus musculus (Mouse)	PR
Q61701	Elavl4	ELAV-like protein 4	Mus musculus (Mouse)	PR
Q60899	Elavl2	ELAV-like protein 2	Mus musculus (Mouse)	PR
O09032	Elavl4	ELAV-like protein 4	Rattus norvegicus (Rat)	PR
Q8CH84	Elavl2	ELAV-like protein 2	Rattus norvegicus (Rat)	PR
Q28FX0	elavl3	ELAV-like protein 3	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
A4QNI8	elavl4	ELAV-like protein 4	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q28GD4	elavl2	ELAV-like protein 2	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
METQLSNGPT	CNNTANGPTT	INNNCSSPVD	SGNTEDSKTN	LIVNYLPQNM	TQEELKSLFG
70	80	90	100	110	120
SIGEIESCKL	VRDKITGQSL	GYGFVNYIDP	KDAEKAINTL	NGLRLQTKTI	KVSYARPSSA
130	140	150	160	170	180
SIRDANLYVS	GLPKTMTQKE	LEQLFSQYGR	IITSRILVDQ	VTGISRGVGF	IRFDKRIEAE
190	200	210	220	230	240
EAIKGLNGQK	PPGATEPITV	KFANNPSQKT	NQAILSQLYQ	SPNRRYPGPL	AQQAQRFRLD
250	260	270	280	290	300
NLLNMAYGVK	RFSPMTIDGM	TSLAGINIPG	HPGTGWCIFV	YNLAPDADES	ILWQMFGPFG
310	320	330	340	350
AVTNVKVIRD	FNTNKCKGFG	FVTMTNYDEA	AMAIASLNGY	RLGDRVLQVS	FKTNKTHKA