AiPD: Autoinhibited Protein Database

Q8WWY3

Gene name	PRPF31 (PRP31)
Protein name	U4/U6 small nuclear ribonucleoprotein Prp31
Names	Pre-mRNA-processing factor 31, Serologically defined breast cancer antigen NY-BR-99, U4/U6 snRNP 61 kDa protein, Protein 61K, hPrp31
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26121
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-66 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-66 (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

12 structures for Q8WWY3

Entry ID	Method	Resolution	Chain	Position	Source
2OZB	X-ray	260 A	B/E	78-333	PDB
3JCR	EM	700 A	J	1-499	PDB
3SIU	X-ray	263 A	B/E	85-333	PDB
3SIV	X-ray	330 A	B/E/H/K	85-333	PDB
5O9Z	EM	450 A	H	1-499	PDB
6AH0	EM	570 A	L	1-499	PDB
6AHD	EM	380 A	L	1-499	PDB
6QW6	EM	292 A	4C	1-499	PDB
6QX9	EM	328 A	4C	1-499	PDB
8Q7N	EM	310 A	L	1-499	PDB
8QO9	EM	529 A	L	1-499	PDB
AF-Q8WWY3-F1	Predicted				AlphaFoldDB

392 variants for Q8WWY3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1600324262 RCV000991048	1	M>I	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs1555791188 RCV000505066	1	M>L	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs2073701678 RCV001199740 RCV001091272	28	E>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
RCV000991049 rs1600324442	30	P>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs2073702243 RCV001199511	32	I>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
RCV000332594 rs781412138 CA309320826 RCV002521250	36	Q>R	Retinitis pigmentosa [ClinVar]	Yes	ExAC gnomAD ClinGen ClinVar dbSNP
RCV000225613 rs878853332 CA309320833 RCV001854792	41	L>V	Retinal dystrophy [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
RCV001280917 rs2073703461	47	S>*	Retinitis pigmentosa 11 [ClinVar]	Yes	ClinVar dbSNP
RCV001135991 RCV000081776 CA223228 rs373578680	50	T>I	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1439576531 CA407790058 RCV000991050 RCV001858731	55	W>*	Retinitis pigmentosa [ClinVar]	Yes	TOPMed gnomAD ClinGen ClinVar dbSNP
rs2073701307 RCV001074667 RCV001724240	56	D>missing	Retinitis pigmentosa Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001199734 rs2073704298	59	M>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs2073708846 RCV001075682	62	E>*	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs2073709089 RCV001073888	65	M>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001249885 rs2073798559	82	G>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs1600335148 RCV001199735 RCV000997009	94	V>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
RCV001074826 RCV001862576 rs2073817463	111	H>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000004613 rs1600337143	111	H>missing	Retinitis pigmentosa 11 [ClinVar]	Yes	ClinVar dbSNP
VAR_025629	111	H>del	RP11; high penetrance [UniProt]	Yes	UniProt
RCV000991054 rs1600337158	112	K>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
RCV000225367 CA309323972 rs878853330	114	I>N	Retinal dystrophy [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
RCV001073856 rs2073817965	120	K>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1555792415 RCV000504670	120	K>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs2073818085 RCV002551710 RCV001199736	124	E>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
CA309323981 RCV000787865 rs376246791 RCV002535758	125	L>V	Retinal dystrophy [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV000225511 rs878853331	134	D>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1555792445 RCV001199737 CA407750150 RCV000585399	140	K>N	Retinitis pigmentosa [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
rs2073843843 RCV001129020	170	T>I	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
RCV001199738 rs1411470197	180	S>*	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs2073851643 RCV001075312	184	L>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001129023 rs776437225 CA309325121 RCV001856684	186	R>Q	Retinitis pigmentosa [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV000132673 CA270113 rs527236094	188	E>*	Retinitis pigmentosa [ClinVar]	Yes	gnomAD ClinGen ClinVar dbSNP
RCV001075718 rs764232082 CA407750528 RCV000991055	191	C>*	Retinitis pigmentosa Retinal dystrophy [ClinVar]	Yes	ExAC gnomAD ClinGen ClinVar dbSNP
VAR_025630 rs119475043 CA253137 RCV000004610	194	A>E	Retinitis pigmentosa 11 Retinitis pigmentosa 11 (rp11) RP11; mislocation of the protein in the cytoplasm and reduced interaction with PRPF6; the result may be a deficiency in splicing function in the retina [ClinVar, Ensembl, UniProt]	Yes	gnomAD ClinGen ClinVar UniProt dbSNP
RCV000513152 rs1555792879 RCV001199739	195	L>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs2073854068 RCV001075077	202	H>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA270116 rs144738703 RCV000081777 RCV000132674 CA223231 RCV002514758	205	Y>*	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA309325261 RCV000658855 rs201806410 RCV001004991	211	R>Q	Retinitis pigmentosa 11 Retinitis pigmentosa 11 (rp11) [ClinVar, Ensembl]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV002557892 rs2073855020 RCV001073229	212	M>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
VAR_025631 RCV000004607 CA253133 rs119475042	216	A>P	Retinitis pigmentosa 11 Retinitis pigmentosa 11 (rp11) RP11; mislocation of the protein in the cytoplasm, but no effect on interaction with PRPF6; the result may be a deficiency in splicing function in the retina [ClinVar, Ensembl, UniProt]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
rs2073855357 RCV001075127	218	N>K	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000787655 rs1600341902	223	I>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
RCV000787656 rs1600341931	225	A>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
RCV002554711 RCV001074381 rs2073856361	229	A>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001003130 rs1600342032	230	K>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs1480395880 CA407751048 RCV001759894 RCV001131700	236	G>S	Retinitis pigmentosa [ClinVar]	Yes	TOPMed ClinGen ClinVar dbSNP
RCV001073724 rs1186135759 CA407751135	246	A>S	Retinal dystrophy [ClinVar]	Yes	TOPMed gnomAD ClinGen ClinVar dbSNP
RCV001074461 rs1161724617	249	I>F	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001073552 rs2073873693	250	M>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs2073873973 RCV001197522 RCV001876281	253	G>R	Retinitis pigmentosa 11 [ClinVar]	Yes	ClinVar dbSNP
CA270118 rs527236095 RCV000132675	255	Q>L	Retinitis pigmentosa [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
rs1600344451 RCV000004612	258	T>missing	Retinitis pigmentosa 11 [ClinVar]	Yes	ClinVar dbSNP
rs2073875313 RCV001073228	270	H>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs2073875379 RCV001075412	270	H>D	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1555793203 RCV000523058 RCV001074801 CA407751352	272	G>V	Retinal dystrophy [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
RCV001074518 RCV001862830 rs2073875700	274	I>S	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001249886 rs2073875700 RCV001879768	274	I>T	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
RCV000504828 rs1555793207	281	Q>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs2073876392 RCV001074712	285	P>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001073622 RCV001724229 RCV001381238 RCV002497486 rs2073926924	299	C>R	Retinitis pigmentosa Retinitis pigmentosa 11 Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV000735652 RCV000513499 rs1555793828	302	A>missing	Retinitis pigmentosa 11 [ClinVar]	Yes	ClinVar dbSNP
RCV000678605 CA309327912 rs750340477 RCV001074752 RCV001584548	304	R>C	Retinitis pigmentosa 11 Retinal dystrophy [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV001073938 rs2073927586 RCV001360711	305	V>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA309327955 RCV000225444 rs878853333	306	D>N	Retinal dystrophy [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
rs144322132 RCV001860515 CA309328013 RCV001002402	312	T>I	Retinitis pigmentosa 11 [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV001723870 rs886041773 RCV000324617	317	G>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
RCV001199509 rs2073962058	317	G>*	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
RCV001199510 rs2073962186	319	E>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs1600355373 CA407752870 RCV000787658	321	K>*	Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl]	Yes	Ensembl ClinGen ClinVar dbSNP
rs878853335 RCV000225424 CA309329255	323	E>*	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001132715 CA407752966 RCV001856713 rs1180860515	326	R>C	Retinitis pigmentosa [ClinVar]	Yes	gnomAD ClinGen ClinVar dbSNP
RCV001376220 RCV000657792 CA407753046 rs1555794205 RCV000991057	331	W>*	Retinitis pigmentosa 11 Retinitis pigmentosa [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
rs878853334 RCV000225503 CA309329289	332	Q>*	Retinal dystrophy [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
RCV000787659 rs1600355502	333	E>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs1555794210 CA407753122 RCV000625658	336	P>R	Retinitis pigmentosa 11 [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
RCV002554674 RCV001073696 CA309329295 rs766301461	345	A>V	Variant assessed as Somatic; 0.0 impact. Retinal dystrophy [NCI-TCGA, ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar NCI-TCGA dbSNP
RCV001074599 RCV001862567 rs2073964314	347	L>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001092517 RCV001074012 rs1342475527 CA407753340	350	Q>*	Retinal dystrophy [ClinVar]	Yes	gnomAD ClinGen ClinVar dbSNP
CA309329313 RCV001723811 COSM1000970 RCV000225648 rs868538598 RCV001854793	354	R>*	Retinitis pigmentosa Variant assessed as Somatic; impact. endometrium Retinal dystrophy [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs2073970078 RCV001862632 RCV001075755	361	K>*	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
rs1184467860 CA407753800 RCV001003132	370	E>*	Retinitis pigmentosa [ClinVar]	Yes	gnomAD ClinGen ClinVar dbSNP
RCV001029844 rs1600356790	371	I>missing	Retinitis pigmentosa 11 [ClinVar]	Yes	ClinVar dbSNP
rs587776589 RCV000004606	372	R>missing	Retinitis pigmentosa 11 [ClinVar]	Yes	ClinVar dbSNP
rs2073970450 RCV001073823	372	R>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001199731 rs2073970897	373	K>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs869312187 CA353609 RCV000760506 RCV000210312 RCV001542614	374	Q>*	Retinitis pigmentosa 11 Retinal dystrophy [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
RCV000504840 rs1555794302	377	R>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
RCV001862597 rs2073971306 RCV001075136	377	R>G	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
RCV001199732 rs2073971805	381	G>*	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
RCV000787652 rs1600360338	398	H>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
rs367896277 CA309330562 RCV001869192 RCV000787866	408	R>W	Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa Retinitis pigmentosa (rp) [NCI-TCGA, ClinVar, Ensembl]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar NCI-TCGA dbSNP
rs1600360654 RCV000787653	411	Q>*	Retinitis pigmentosa [ClinVar]	Yes	ClinVar dbSNP
CA407754977 RCV000997011 rs1600360827 RCV001199733	425	Q>H	Retinitis pigmentosa [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
CA407755512 RCV002532180 RCV000678604 rs1568600184	431	Q>*	Retinitis pigmentosa 11 [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
RCV000276110 CA309330849 RCV001850769 rs201906830	433	V>I	Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa [NCI-TCGA, ClinVar]	Yes	1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar NCI-TCGA dbSNP
rs1600361737 CA407755797 RCV000787864	446	S>P	Leber congenital amaurosis [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
RCV001074471 rs2074043162	470	K>missing	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA309332360 RCV001527338 RCV001074751 rs981971618	484	A>G	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA309320754 rs753445887	12	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs201265631 CA309320785	18	E>*		No	1000Genomes ClinGen
rs1320738328 CA407789305	20	G>E		No	TOPMed ClinGen
rs1568581657 CA407789316	21	G>E		No	Ensembl ClinGen
rs764971431 CA309320799	23	Y>C		No	ExAC TOPMed gnomAD ClinGen
CA309320804 rs752660801	24	G>A		No	ExAC gnomAD ClinGen
TCGA novel	24	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA309320815 rs199972329	29	E>Q		No	Ensembl ClinGen
rs758451671 CA309320824	30	P>L		No	ExAC gnomAD ClinGen
CA407789520 rs1171949219	31	A>V		No	TOPMed ClinGen
rs142560628 CA407789538	32	I>M		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	34	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA309320828 rs746256474	38	E>A		No	ExAC TOPMed gnomAD ClinGen
rs1468048884 CA407789668	38	E>Q		No	gnomAD ClinGen
rs1375222915 CA407789724	41	L>P		No	gnomAD ClinGen
CA407789753 rs1248896664	43	L>F		No	TOPMed ClinGen
rs1159313685 CA407789776	44	S>C		No	gnomAD ClinGen
rs371642677 CA309320860	45	G>R		No	ClinGen ESP ExAC gnomAD
rs772692645 CA309320880 COSM1000963	52	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1439576531 CA407790062	55	W>C		No	TOPMed gnomAD ClinGen
rs776306007 CA309320897	55	W>R		No	ExAC gnomAD ClinGen
rs765096169 CA309320909	57	S>N		No	ExAC gnomAD ClinGen
rs1250110496 CA407790148	59	M>I		No	ClinGen TOPMed
rs907213516 CA309320920	59	M>T		No	Ensembl ClinGen
rs140412357 CA309321150	61	A>D		No	ESP ExAC TOPMed gnomAD ClinGen
CA309321151 rs140412357 RCV000330549	61	A>G		No	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs145505952 CA309321152	65	M>K		No	ESP ExAC TOPMed gnomAD ClinGen
rs141463671 CA309321169	70	Y>C		No	1000Genomes ClinGen
rs754063233 CA309321175	72	S>N		No	ExAC gnomAD ClinGen
RCV001268709 rs2073709795	73	K>*		No	ClinVar dbSNP
CA407790660 rs1389305246 RCV000760430	74	Q>*		No	gnomAD ClinGen ClinVar dbSNP
CA407790663 rs1389305246	74	Q>E		No	gnomAD ClinGen
rs1314509640 CA407790675	74	Q>H		No	gnomAD ClinGen
rs1334884325 CA407790689	75	A>D		No	gnomAD ClinGen
rs1165535552 CA407790732	77	A>G		No	TOPMed ClinGen
rs778076637 CA309323440	81	M>I		No	ClinGen ExAC gnomAD
rs758804755 CA309323434	81	M>T		No	ExAC gnomAD ClinGen
rs1162656761 CA407749044	81	M>V		No	gnomAD ClinGen
CA309323446 rs747554145	83	P>A		No	ExAC gnomAD ClinGen
CA309323447 rs369049017	84	V>A		No	ESP ExAC TOPMed gnomAD ClinGen
CA407749135 rs1355384032	86	A>S		No	TOPMed ClinGen
rs768486884 CA309323458	87	A>E		No	ExAC TOPMed gnomAD ClinGen
rs1269106259 CA407749148	87	A>T		No	TOPMed gnomAD ClinGen
rs768486884 CA309323457	87	A>V		No	ExAC TOPMed gnomAD ClinGen
CA407749178 rs1356333487	88	P>R		No	TOPMed ClinGen
CA407749227 rs376072327	91	R>C		No	ESP ExAC TOPMed gnomAD ClinGen
CA407749226 rs376072327	91	R>G		No	ESP ExAC TOPMed gnomAD ClinGen
CA309323463 rs759141690	91	R>H		No	ClinGen ExAC TOPMed gnomAD
COSM1681346 rs776730311 CA309323494	92	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs1216526173 CA407749275	94	V>M		No	TOPMed gnomAD ClinGen
CA407749321 rs1241603118	96	A>V		No	ClinGen gnomAD
rs1474353720 CA407749353	98	N>S		No	gnomAD ClinGen
rs752968381 CA309323507	101	V>M		No	ExAC gnomAD ClinGen
CA309323513 rs764545115	105	N>K		No	ExAC TOPMed gnomAD ClinGen
rs1037423541 CA309323956	108	N>S		No	Ensembl ClinGen
rs1261907890 CA407749525	108	N>Y		No	TOPMed ClinGen
CA407749686 rs1600337134	109	I>V		No	Ensembl ClinGen
rs1555792404 CA407749756 RCV000512674	111	H>R		No	Ensembl ClinGen ClinVar dbSNP
TCGA novel	113	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407749814 rs1461367727	115	R>W		No	gnomAD ClinGen
TCGA novel	123	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770719374 CA309323982	131	N>S		No	ExAC TOPMed gnomAD ClinGen
rs2073818439 RCV001291621	132	A>missing		No	ClinVar dbSNP
CA309323984 rs781067744	132	A>T		No	ExAC ClinGen
rs745841741 CA309323990	132	A>V		No	ExAC ClinGen
CA407750108 rs1185731668	136	I>V		No	gnomAD ClinGen
rs763083738 CA309323999	137	R>C		No	ExAC gnomAD ClinGen
rs147725190 CA309324000	137	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA309324002 rs147725190	137	R>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs1231371893 CA407750143	139	V>A		No	ClinGen gnomAD
rs755878467 CA309324686	147	D>G		No	ExAC ClinGen
TCGA novel	153	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407750270 rs967687441	154	N>K		No	Ensembl ClinGen
CA407750273 rs1372880764	155	L>V		No	gnomAD ClinGen
RCV001091274 rs2073842959	156	Q>*		No	ClinVar dbSNP
rs372779327 CA309324710	162	A>S		No	ESP ExAC gnomAD ClinGen
rs1600340281 CA407750355	167	V>F		No	ClinGen Ensembl
rs748347424 CA407750362	168	S>N		No	ClinGen ExAC gnomAD
CA407750363 rs748347424	168	S>T		No	ExAC gnomAD ClinGen
CA309324715 rs150280707	169	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1246773978 CA407750380	171	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA407750415 rs1194610765	176	G>E		No	gnomAD ClinGen
rs1470235353 CA407750412	176	G>W		No	gnomAD ClinGen
rs1411470197 CA407750460	180	S>L		No	TOPMed gnomAD ClinGen
CA309325092 rs771586861	182	E>K		No	ExAC gnomAD ClinGen
rs1020151914 CA309325098	184	L>V		No	Ensembl ClinGen
RCV000520276 rs776437225 CA407750498	186	R>L		No	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs770546023 CA309325120	186	R>W		No	ExAC TOPMed gnomAD ClinGen
rs958707245 CA407750499	187	L>M		No	TOPMed ClinGen
CA309325128 rs199870856	188	E>G		No	ExAC gnomAD ClinGen
CA407750504 rs527236094	188	E>K		No	gnomAD ClinGen
rs775546768 CA309325130	189	E>G		No	ExAC gnomAD ClinGen
rs762840005 CA309325136	190	A>D		No	ExAC gnomAD ClinGen
rs762840005 CA407750521	190	A>G		No	ExAC gnomAD ClinGen
rs751651077 CA309325162	192	D>N		No	ExAC TOPMed gnomAD ClinGen
rs1486132242 CA407750546	194	A>T		No	gnomAD ClinGen
COSM193003 rs119475043 CA407750549	194	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine Retinitis pigmentosa 11 (rp11) [NCI-TCGA, Cosmic, Ensembl]	No	gnomAD ClinGen cosmic curated NCI-TCGA
rs1252030145 CA407750552	195	L>V		No	gnomAD ClinGen
CA309325181 rs750678173	196	E>K		No	ClinGen ExAC gnomAD
CA309325196 rs142874574	199	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA309325197 rs755501138	199	A>V		No	ClinGen ExAC gnomAD
rs373212857 CA309325203	203	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1346515891 CA407750681	204	I>V		No	gnomAD ClinGen
rs770479273 CA407750691	205	Y>C		No	ClinGen ExAC gnomAD
CA309325210 rs770479273	205	Y>F		No	ExAC gnomAD ClinGen
CA407750699 rs1364899257	206	E>D		No	gnomAD ClinGen
rs1433281443 CA407750730	209	E>K		No	gnomAD ClinGen
CA309325239 rs745566366	211	R>W		No	ExAC TOPMed gnomAD ClinGen
CA407750775 rs1555792899 RCV000523527	212	M>V		No	Ensembl ClinGen ClinVar dbSNP
rs1600341804 CA407750827	215	I>V		No	Ensembl ClinGen
CA309325278 rs119475042	216	A>T	Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa 11 (rp11) [NCI-TCGA, Ensembl]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs763882898 CA309325283	219	L>M		No	ExAC TOPMed gnomAD ClinGen
rs1195195754 CA407750885	221	I>F		No	ClinGen gnomAD
CA309325321 rs761762752	222	I>V		No	ExAC gnomAD ClinGen
rs767602745 CA407750903	223	I>M		No	ClinGen ExAC TOPMed gnomAD
CA309325324 rs750619000	224	G>R		No	ExAC TOPMed gnomAD ClinGen
rs1415580544 CA407750926	227	T>M		No	TOPMed ClinGen
CA309325356 rs754211553	229	A>T		No	ExAC gnomAD ClinGen
TCGA novel	233	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	239	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1271698442 CA407751088	240	N>H		No	TOPMed gnomAD ClinGen
rs759842835 CA309326029	240	N>T		No	ExAC gnomAD ClinGen
rs1315027213 CA407751111	242	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs753164653 CA309326039	242	S>T		No	ExAC gnomAD ClinGen
CA407751117 rs1486461444	243	K>M		No	TOPMed gnomAD ClinGen
rs1486461444 CA407751116	243	K>R		No	TOPMed gnomAD ClinGen
CA309326044 rs763426323	244	M>V		No	ExAC gnomAD ClinGen
rs1186135759 CA407751137	246	A>T		No	ClinGen TOPMed gnomAD
rs1064797250 RCV000487978	248	N>missing		No	ClinVar dbSNP
CA309326086 rs752145788	249	I>N		No	ExAC TOPMed gnomAD ClinGen
CA407751159 rs1161724617	249	I>V		No	TOPMed gnomAD ClinGen
rs587739828 CA309326091	250	M>V		No	1000Genomes ExAC gnomAD ClinGen
RCV001342861 rs2073873787	251	L>P		No	ClinVar dbSNP
rs1555793170 RCV000520877	253	G>missing		No	ClinVar dbSNP
rs753397075 CA309326099	254	A>T		No	ExAC TOPMed gnomAD ClinGen
CA407751193 rs1173171842	254	A>V		No	TOPMed gnomAD ClinGen
rs1401655545 CA407751201	256	R>C		No	gnomAD ClinGen
CA309326126 rs372827141	256	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA407751230 rs1434025015	260	S>L		No	ClinGen gnomAD
rs1434025015 CA407751229	260	S>W		No	gnomAD ClinGen
COSM3404570 rs1234645773 CA407751292	269	P>S	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
rs1397526189 CA407751344	272	G>S		No	TOPMed ClinGen
rs1266724825 CA407751407	276	H>Y		No	TOPMed ClinGen
rs1236203220 CA407751429	277	S>G		No	ClinGen TOPMed
CA309326173 rs770976679	280	V>M		No	ExAC gnomAD ClinGen
rs776838460 CA309326178	281	Q>R		No	ExAC gnomAD ClinGen
rs1246583773 CA407751544	284	P>Q		No	gnomAD ClinGen
CA407751562 rs1455732984	285	P>L		No	TOPMed gnomAD ClinGen
CA407751560 rs1455732984	285	P>R		No	TOPMed gnomAD ClinGen
rs1366556247 CA407751776	286	D>H		No	TOPMed gnomAD ClinGen
CA309327799 rs757005258	286	D>V		No	ClinGen ExAC gnomAD
CA407751783 rs975526285	287	L>V		No	TOPMed gnomAD ClinGen
rs756193579 CA309327816	288	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs376236959 CA407751790	288	R>W		No	ESP ExAC TOPMed gnomAD ClinGen
CA309327818 rs587678197	289	R>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs780317796 CA309327817	289	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs769060905 CA407751803	290	K>N		No	ExAC TOPMed gnomAD ClinGen
CA309327821 rs201040660	291	A>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA407751816 rs1230858435	293	R>G		No	gnomAD ClinGen
rs773721834 CA309327837	293	R>Q		No	ExAC gnomAD ClinGen
COSM1263156 CA407751815 RCV001309069 rs1230858435	293	R>W	oesophagus [Cosmic]	No	gnomAD ClinGen cosmic curated ClinVar dbSNP
rs769317065 CA309327843	295	V>G		No	ExAC gnomAD ClinGen
rs372805101 COSM1222155 CA309327842	295	V>M	large_intestine [Cosmic]	No	ESP ExAC gnomAD ClinGen cosmic curated
rs1181273267 CA407751832	296	A>G		No	gnomAD ClinGen
COSM1396204 CA309327849 rs762463081	297	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
TCGA novel	298	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA309327869 rs763668481	298	K>R		No	ExAC TOPMed gnomAD ClinGen
CA309327877 rs751242366	299	C>*		No	ExAC ClinGen
rs767261149 CA309327898	303	A>T		No	ExAC gnomAD ClinGen
rs756068990 CA309327917	304	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs780271221 CA309327924	305	V>A		No	ExAC gnomAD ClinGen
CA407751895 rs1476069065	307	S>N		No	TOPMed ClinGen
CA309327985 rs587728623	308	F>C		No	1000Genomes ExAC gnomAD ClinGen
CA309327981 rs587728623	308	F>S		No	1000Genomes ExAC gnomAD ClinGen
rs778039940 CA309328002	310	E>K		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	311	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407751943 rs1304806337	314	G>R		No	TOPMed gnomAD ClinGen
rs1466225729 CA407751950	315	K>E		No	TOPMed gnomAD ClinGen
COSM1396205 CA407752814 rs1600355311	317	G>C	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA407752852 rs1218417233	319	E>V		No	TOPMed ClinGen
CA407752859 rs1450669410	320	L>M		No	TOPMed gnomAD ClinGen
rs991656582 CA309329262	324	I>M		No	gnomAD ClinGen
rs1555794201 RCV000591126 CA407752948	325	E>*		No	Ensembl ClinGen ClinVar dbSNP
rs1600355462 CA407752973	326	R>L		No	Ensembl ClinGen
CA407753006 rs202206056	328	F>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA407753100 rs1469059425	334	P>L		No	gnomAD ClinGen
CA407753112 rs1415051331	335	P>L		No	gnomAD ClinGen
rs1301569375 CA407753160	339	Q>*		No	ClinGen gnomAD
rs1410470742 CA407753200	341	K>N		No	TOPMed gnomAD ClinGen
CA407753218 rs1217334198	342	P>L		No	TOPMed gnomAD ClinGen
rs867155464 CA309329294	344	P>H		No	ClinGen Ensembl
TCGA novel	344	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867822834 CA309329300	351	R>L		No	Ensembl ClinGen
rs1568597642 CA407753381	352	K>R		No	Ensembl ClinGen
rs1249002937 CA407753427	354	R>L		No	gnomAD ClinGen
rs1256478825 CA407753430	355	G>S		No	TOPMed ClinGen
RCV000173872 CA239330 rs794727002	357	R>C		No	TOPMed gnomAD ClinGen ClinVar dbSNP
rs1238380296 CA407753470	357	R>H		No	gnomAD ClinGen
rs1222194672 CA407753590	359	Y>D		No	gnomAD ClinGen
CA407753587 rs1222194672	359	Y>H		No	gnomAD ClinGen
rs1290697753 CA407753606	360	R>C		No	gnomAD ClinGen
CA407753612 rs1330468784	360	R>P		No	ClinGen gnomAD
CA407753631 rs1238703208	361	K>M		No	gnomAD ClinGen
rs1489582905 CA407753712	365	R>W		No	gnomAD ClinGen
CA309329542 rs867295679	369	T>K		No	Ensembl ClinGen
CA407753797 rs1184467860	370	E>Q		No	gnomAD ClinGen
rs1600356799 RCV000997010	370	E>missing		No	ClinVar dbSNP
rs1472231888 CA407753851	372	R>Q		No	gnomAD ClinGen
CA309329559 rs373249122	372	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1600356790 RCV001092519	373	K>missing		No	ClinVar dbSNP
rs869312187 CA309329568	374	Q>K		No	Ensembl ClinGen
CA407753906 rs1370041345	375	A>T		No	gnomAD ClinGen
CA407753912 rs1353795698	375	A>V		No	TOPMed ClinGen
rs756479054 CA309329600 COSM1396206	377	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
CA309329623 rs754394723	378	M>L		No	ExAC gnomAD ClinGen
rs750245767	383	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA407754346 rs779962558	384	E>*		No	ExAC gnomAD ClinGen
CA407754354 rs909897610	384	E>D		No	gnomAD ClinGen
CA309330519 rs779962558	384	E>K		No	ExAC gnomAD ClinGen
rs1404413099 CA407754378	386	D>N		No	gnomAD ClinGen
CA407754401 rs1298541740	387	A>S		No	gnomAD ClinGen
COSM1396207 rs1298541740 CA407754398	387	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
rs1361560517 CA407754437	389	Q>H		No	gnomAD ClinGen
CA309330537 rs973124592	393	G>V		No	Ensembl ClinGen
CA309330541 rs866914554	395	S>G		No	Ensembl ClinGen
CA407754534 rs1360236310	396	L>V		No	TOPMed ClinGen
CA407754545 rs1260993843	397	G>S		No	gnomAD ClinGen
rs1294280439 CA407754555	397	G>V		No	TOPMed ClinGen
rs1466127494 CA407754568	398	H>Q		No	gnomAD ClinGen
CA407754581 rs1238199955	399	L>Q		No	TOPMed ClinGen
rs1209145493 CA407754610	401	K>R		No	gnomAD ClinGen
rs1406386099 CA407754629	402	S>L		No	TOPMed gnomAD ClinGen
rs1241120448 CA407754622	402	S>P		No	gnomAD ClinGen
rs1406386099 CA407754626	402	S>W		No	TOPMed gnomAD ClinGen
CA407754637 rs1209310656	403	G>S		No	gnomAD ClinGen
TCGA novel	405	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407754682 rs200636980	406	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA407754680 rs200636980	406	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs760999883 CA309330558	406	R>H		No	ExAC gnomAD ClinGen
rs1423516770 CA407754696	407	V>L		No	TOPMed ClinGen
CA407754704 rs367896277	408	R>G	Retinitis pigmentosa (rp) [Ensembl]	No	ESP ExAC TOPMed gnomAD ClinGen
CA407754708 rs1459114247	408	R>Q		No	TOPMed gnomAD ClinGen
rs1428962837 CA407754778	413	N>H		No	gnomAD ClinGen
rs1368455325 CA407754797	414	E>K		No	gnomAD ClinGen
CA407754820 rs1222805069	415	A>T		No	ClinGen gnomAD
TCGA novel	415	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1331181536 CA407754863	418	A>T		No	gnomAD ClinGen
rs1198570358 CA407754880	419	R>K		No	TOPMed ClinGen
CA309330590 rs753277924	423	T>M		No	ExAC TOPMed gnomAD ClinGen
RCV000153774 CA273359 rs727504107	425	Q>*		No	ClinGen ClinVar Ensembl dbSNP
CA407755429 COSM1193535 rs1284108804	426	R>Q	lung [Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated
CA309330811 rs778722334	427	T>S		No	ExAC gnomAD ClinGen
rs748076531 CA309330817	432	S>R		No	ExAC TOPMed gnomAD ClinGen
rs770948639 CA309330873	434	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA407755597 rs1318607765	435	Y>C		No	TOPMed ClinGen
CA309330880 rs746117107	436	G>D		No	ExAC gnomAD ClinGen
rs776053848 COSM418057 CA309330911	437	G>A	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
CA309330923 rs80109093	438	K>E		No	gnomAD ClinGen
rs1182030182 CA407755686	440	T>P		No	gnomAD ClinGen
rs1392280024 CA407755695	440	T>S		No	gnomAD ClinGen
CA407755727 rs1394170563	442	R>C		No	gnomAD ClinGen
CA309330947 rs774748387	442	R>H		No	ExAC gnomAD ClinGen
CA407755743 rs1405136743	443	D>H		No	gnomAD ClinGen
CA407755767 rs1299300904	444	R>P		No	gnomAD ClinGen
rs753499906 CA309330978	445	S>F		No	ExAC TOPMed gnomAD ClinGen
CA309330994 rs759253733	446	S>L		No	ExAC TOPMed gnomAD ClinGen
rs759253733 CA309330996	446	S>W		No	ClinGen ExAC TOPMed gnomAD
CA309330999 rs752433269	448	T>M		No	ExAC gnomAD ClinGen
TCGA novel	451	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407755913 rs1600361840	452	V>M		No	Ensembl ClinGen
CA309331019 rs151337240	453	A>D		No	ClinGen ESP ExAC gnomAD
rs1443035948 CA407755967	456	P>L		No	TOPMed ClinGen
CA407755971 rs1371472106	457	L>I		No	gnomAD ClinGen
CA309332311 rs745344610	459	G>S		No	ClinGen ExAC gnomAD
rs1436199044 CA407756526	463	V>M		No	TOPMed ClinGen
TCGA novel	466	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1291205132 CA407756622	467	A>V		No	gnomAD ClinGen
CA309332323 rs112001400	470	K>E		No	Ensembl ClinGen
rs1184310609 CA407756725	472	V>M		No	gnomAD ClinGen
rs1418246903 CA407756771	474	E>D		No	gnomAD ClinGen
CA309332330 rs773958709	477	Q>P		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	483	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs970673640 CA309332347	484	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
CA309332366 rs750405768	486	F>V		No	ExAC gnomAD ClinGen
rs1568603254 CA407757050	487	L>V		No	Ensembl ClinGen
CA407757076 rs1204751030	488	K>T		No	Ensembl ClinGen
rs779212742 CA309332381	491	G>S		No	ExAC gnomAD ClinGen
rs867019753 CA407757166	492	E>*		No	TOPMed ClinGen
CA309332396 rs867019753 COSM1222156	492	E>K	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	TOPMed ClinGen cosmic curated NCI-TCGA
CA407757185 rs1172016815	493	K>E		No	Ensembl ClinGen
rs1297196007 CA407757192	493	K>R		No	gnomAD ClinGen
CA407757205 rs1286625081	494	S>G		No	TOPMed gnomAD ClinGen
CA407757210 rs1385248426	494	S>N		No	gnomAD ClinGen
rs1314432541 CA407757285	499	T>I		No	ClinGen gnomAD

1 associated diseases with Q8WWY3

[MIM: 600138]: Retinitis pigmentosa 11 (RP11)

A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:11545739, ECO:0000269|PubMed:12444105, ECO:0000269|PubMed:12923864, ECO:0000269|PubMed:17412961, ECO:0000269|PubMed:8808602}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:11545739, ECO:0000269|PubMed:12444105, ECO:0000269|PubMed:12923864, ECO:0000269|PubMed:17412961, ECO:0000269|PubMed:8808602}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q8WWY3

Type	Name	Position	InterPro Accession
domain	Nop domain	100 - 333	IPR002687
domain	NOSIC	92 - 144	IPR012976
domain	Prp31 C-terminal	338 - 465	IPR019175

Functions

		Description
EC Number
Subcellular Localization	Nucleus Nucleus speckle Nucleus, Cajal body	Predominantly found in speckles and in Cajal bodies
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

12 GO annotations of cellular component

Name	Definition
Cajal body	A class of nuclear body, first seen after silver staining by Ramon y Cajal in 1903, enriched in small nuclear ribonucleoproteins, and certain general RNA polymerase II transcription factors; ultrastructurally, they appear as a tangle of coiled, electron-dense threads roughly 0.5 micrometers in diameter; involved in aspects of snRNP biogenesis; the protein coilin serves as a marker for Cajal bodies. Some argue that Cajal bodies are the sites for preassembly of transcriptosomes, unitary particles involved in transcription and processing of RNA.
MLL1 complex	A protein complex that can methylate lysine-4 of histone H3. MLL1/MLL is the catalytic methyltransferase subunit, and the complex also contains the core components ASH2L, HCFC1/HCF1 WDR5 and RBBP5.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
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.
precatalytic spliceosome	A spliceosomal complex that is formed by the recruitment of a preassembled U5-containing tri-snRNP to the prespliceosome. Although all 5 snRNPs are present, the precatalytic spliceosome is catalytically inactive. The precatalytic spliceosome includes many proteins in addition to those found in the associated snRNPs.
spliceosomal tri-snRNP complex	A spliceosomal snRNP complex that is formed by the association of the U4/U6 (or U4atac/U6atac) snRNP with the U5 snRNP.
U2-type precatalytic spliceosome	A spliceosomal complex that is formed by the recruitment of the preassembled U4/U6.U5 tri-snRNP to the prespliceosome. Although all 5 snRNPs are present, the precatalytic spliceosome is catalytically inactive. The precatalytic spliceosome includes many proteins in addition to those found in the U1, U2 and U4/U6.U5 snRNPs.
U2-type spliceosomal complex	Any spliceosomal complex that forms during the splicing of a messenger RNA primary transcript to excise an intron that has canonical consensus sequences near the 5' and 3' ends.
U4 snRNP	A ribonucleoprotein complex that contains small nuclear RNA U4, a heptameric ring of Sm proteins, as well as several proteins that are unique to the U4 snRNP, most of which remain associated with the U4 snRNA both while the U4 snRNP is free or assembled into the U4/U6 snRNP or into a series of spliceosomal complexes.
U4/U6 x U5 tri-snRNP complex	A ribonucleoprotein complex that is formed by the association of the U4/U6 and U5 snRNPs.
U4atac snRNP	A ribonucleoprotein complex that contains small nuclear RNA U4atac, a heptameric ring of Sm proteins, as well as several proteins that are unique to the U4atac snRNP, most of which remain associated with the U4atac snRNA both while the U4atac snRNP is free or assembled into the U4atac/U6atac complex or into a series of spliceosomal complexes.

6 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.
ribonucleoprotein complex binding	Binding to a complex of RNA and protein.
RNA binding	Binding to an RNA molecule or a portion thereof.
snRNP binding	Binding to a small nuclear ribonucleoprotein particle.
U4 snRNA binding	Binding to a U4 small nuclear RNA (U4 snRNA).
U4atac snRNA binding	Binding to a U4atac small nuclear RNA (U4atac snRNA).

3 GO annotations of biological process

Name	Definition
mRNA splicing, via spliceosome	The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced.
ribonucleoprotein complex localization	Any process in which a ribonucleoprotein complex is transported to, or maintained in, a specific location within a cell.
spliceosomal tri-snRNP complex assembly	The formation of a tri-snRNP complex containing U4 and U6 (or U4atac and U6atac) snRNAs and U5 snRNAs and associated proteins. This includes reannealing of U4 and U6 (or U4atac and U6atac) snRNAs released from previous rounds of splicing to reform the U4/U6 snRNP (or U4atac/U6atac snRNP) as well as the subsequent association of the U5 snRNP with the U4/U6 snRNP (or U4atac/U6atac snRNP) to form a tri-snRNP that is ready to reassemble into another spliceosome complex.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P49704	PRP31	Pre-mRNA-processing factor 31	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q8CCF0	Prpf31	U4/U6 small nuclear ribonucleoprotein Prp31	Mus musculus (Mouse)	PR
Q6NVP6	prpf31	U4/U6 small nuclear ribonucleoprotein Prp31	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MSLADELLAD	LEEAAEEEEG	GSYGEEEEEP	AIEDVQEETQ	LDLSGDSVKT	IAKLWDSKMF
70	80	90	100	110	120
AEIMMKIEEY	ISKQAKASEV	MGPVEAAPEY	RVIVDANNLT	VEIENELNII	HKFIRDKYSK
130	140	150	160	170	180
RFPELESLVP	NALDYIRTVK	ELGNSLDKCK	NNENLQQILT	NATIMVVSVT	ASTTQGQQLS
190	200	210	220	230	240
EEELERLEEA	CDMALELNAS	KHRIYEYVES	RMSFIAPNLS	IIIGASTAAK	IMGVAGGLTN
250	260	270	280	290	300
LSKMPACNIM	LLGAQRKTLS	GFSSTSVLPH	TGYIYHSDIV	QSLPPDLRRK	AARLVAAKCT
310	320	330	340	350	360
LAARVDSFHE	STEGKVGYEL	KDEIERKFDK	WQEPPPVKQV	KPLPAPLDGQ	RKKRGGRRYR
370	380	390	400	410	420
KMKERLGLTE	IRKQANRMSF	GEIEEDAYQE	DLGFSLGHLG	KSGSGRVRQT	QVNEATKARI
430	440	450	460	470	480
SKTLQRTLQK	QSVVYGGKST	IRDRSSGTAS	SVAFTPLQGL	EIVNPQAAEK	KVAEANQKYF
490
SSMAEFLKVK	GEKSGLMST