AiPD: Autoinhibited Protein Database

Q8WWH5

Gene name	TRUB1
Protein name	Pseudouridylate synthase TRUB1
Names	TruB pseudouridine synthase homolog 1, tRNA pseudouridine 55 synthase TRUB1, Psi55 synthase TRUB1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:142940
EC number	5.4.99.25: Transferring other groups
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-91 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-91 (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 Q8WWH5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8WWH5-F1	Predicted				AlphaFoldDB

263 variants for Q8WWH5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA5703587 rs754035471	2	A>V		No	ClinGen ExAC TOPMed gnomAD
rs777873032 CA214424477	3	A>T		No	ClinGen Ensembl
rs777507141 CA5703589	3	A>V		No	ClinGen ExAC gnomAD
rs377229377 CA5703590	5	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs138212899 CA5703591	6	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5703593 rs781079988	7	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1564696004 CA378536014	7	A>T		No	ClinGen Ensembl
rs781079988 CA5703592	7	A>V		No	ClinGen ExAC TOPMed gnomAD
rs559435727 CA5703595	8	V>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1448511105 CA378536028	9	V>G		No	ClinGen TOPMed
CA378536034 rs1278361771	10	S>F		No	ClinGen gnomAD
CA378536037 rs774806190	11	S>*		No	ClinGen ExAC gnomAD
rs774806190 CA5703598	11	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5703597 rs375548422	11	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774806190 CA378536038	11	S>W		No	ClinGen ExAC gnomAD
CA378536049 rs1436519549	13	S>C		No	ClinGen gnomAD
rs762245615 CA5703599	15	K>E		No	ClinGen ExAC gnomAD
CA378536069 rs1488266679	16	T>R		No	ClinGen TOPMed gnomAD
rs1564696016 CA378536074	17	D>G		No	ClinGen Ensembl
rs1369961719 CA378536080	18	T>A		No	ClinGen TOPMed
rs768178093 CA378536089	19	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5703600 rs768178093	19	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA214424557 rs751762173	20	P>S		No	ClinGen TOPMed gnomAD
rs773843505 CA5703602	23	E>K		No	ClinGen ExAC gnomAD
TCGA novel	26	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5703603 rs760683874	27	T>A		No	ClinGen ExAC gnomAD
rs527693348 CA214424623	30	A>T		No	ClinGen Ensembl
CA5703607 rs754039765	32	A>T		No	ClinGen ExAC gnomAD
CA214424645 rs936112765	32	A>V		No	ClinGen Ensembl
rs1341908622 CA378536188	33	A>V		No	ClinGen gnomAD
rs199739741 CA5703611	34	T>P		No	ClinGen ExAC TOPMed gnomAD
rs757044719 CA214424675	35	P>L		No	ClinGen ExAC gnomAD
CA5703612 rs757044719	35	P>R		No	ClinGen ExAC gnomAD
rs1365780626 CA378536228	37	A>S		No	ClinGen TOPMed gnomAD
rs755580743 CA378536304	42	A>G		No	ClinGen ExAC gnomAD
CA214424720 rs921326356	42	A>T		No	ClinGen Ensembl
CA5703616 rs755580743	42	A>V		No	ClinGen ExAC gnomAD
rs1564696051 CA378536317	43	V>A		No	ClinGen Ensembl
rs1564696051 CA378536319	43	V>G		No	ClinGen Ensembl
CA5703619 rs188026576	44	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378536325 rs1592046455	44	V>G		No	ClinGen Ensembl
rs188026576 CA5703618	44	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774115124 CA5703620	45	A>T		No	ClinGen ExAC gnomAD
rs1373218368 CA378536340	45	A>V		No	ClinGen gnomAD
rs748582310 CA5703623	46	A>S		No	ClinGen ExAC gnomAD
CA378536365 rs1479131927	47	A>V		No	ClinGen TOPMed gnomAD
rs563361826 CA5703624	49	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773598906 CA5703625	51	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5703626 rs761206061	53	E>A		No	ClinGen ExAC gnomAD
rs776823750 CA5703628	54	A>D		No	ClinGen ExAC gnomAD
rs530499685 CA5703627	54	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1592046481 CA378536459	56	V>G		No	ClinGen Ensembl
CA214424803 rs781619955	57	S>F		No	ClinGen TOPMed
CA5703630 rs552335640	58	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA5703631 rs143711955	58	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1376712033 CA378536500	60	A>G		No	ClinGen gnomAD
CA5703633 rs767230684	60	A>S		No	ClinGen ExAC gnomAD
rs1376712033 CA378536502	60	A>V		No	ClinGen gnomAD
CA5703634 rs750355581	62	A>V		No	ClinGen ExAC gnomAD
CA378536537 rs1472038223	63	T>N		No	ClinGen TOPMed
CA5703635 rs756027843	64	K>R		No	ClinGen ExAC gnomAD
rs779831950 CA5703636	66	L>P		No	ClinGen ExAC TOPMed gnomAD
CA5703637 rs753428154	67	S>P		No	ClinGen ExAC gnomAD
CA378536584 rs1214628070	68	L>S		No	ClinGen TOPMed gnomAD
CA5703639 rs778721883	69	S>N		No	ClinGen ExAC TOPMed gnomAD
rs747737474 CA5703640	69	S>R		No	ClinGen ExAC TOPMed gnomAD
CA378536626 rs981976400	72	F>L		No	ClinGen TOPMed gnomAD
CA378536636 rs1365420788	74	V>E		No	ClinGen gnomAD
rs1176573772 CA378536633	74	V>M		No	ClinGen gnomAD
CA378536661 rs1162061870	77	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5703641 rs772597952	77	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5703642 rs778152731	78	K>R		No	ClinGen ExAC gnomAD
CA378536715 rs1227577940	82	S>*		No	ClinGen TOPMed
rs148245314 CA378536739	84	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1230542296 CA378536762	87	N>H		No	ClinGen TOPMed
rs1564696115 CA378536772	87	N>K		No	ClinGen Ensembl
rs759674509 CA5703646	88	R>W		No	ClinGen ExAC gnomAD
CA5703647 rs769803693	90	K>E		No	ClinGen ExAC TOPMed gnomAD
CA378536797 rs1293032878	90	K>R		No	ClinGen TOPMed
TCGA novel	91	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1592046518 CA378536811	92	K>E		No	ClinGen Ensembl
rs775690285 CA378536829	95	A>E		No	ClinGen ExAC gnomAD
rs898338725 CA214424890	95	A>S		No	ClinGen Ensembl
rs775690285 CA5703648	95	A>V		No	ClinGen ExAC gnomAD
rs1437729749 CA378536831	96	E>K		No	ClinGen TOPMed
rs1261912927 CA378537364	97	A>V		No	ClinGen gnomAD
CA5703667 rs781727028	99	M>K		No	ClinGen ExAC gnomAD
CA378537372 rs1172141197	99	M>V		No	ClinGen gnomAD
rs1465815708 CA378537388	101	S>Y		No	ClinGen gnomAD
CA5703668 VAR_051607 rs34393297	103	E>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs376430991 CA5703669	107	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1030840502 CA214428489	108	K>R		No	ClinGen TOPMed gnomAD
CA378537450 rs1297640428	110	Q>*		No	ClinGen gnomAD
CA378537460 rs1338606647	111	T>I		No	ClinGen TOPMed gnomAD
CA378537459 rs1338606647	111	T>S		No	ClinGen TOPMed gnomAD
CA5703672 rs759004661	114	I>T		No	ClinGen ExAC gnomAD
CA378537486 rs1232207143	115	G>E		No	ClinGen gnomAD
rs1232207143 CA378537488	115	G>V		No	ClinGen gnomAD
rs760576297 CA5703674	116	H>R		No	ClinGen ExAC gnomAD
CA378537496 rs1284650614	117	G>R		No	ClinGen gnomAD
CA5703677 rs202132205	119	T>A		No	ClinGen 1000Genomes ExAC TOPMed
CA378537513 rs1237286740	120	L>I		No	ClinGen TOPMed
rs1237286740 CA378537514	120	L>V		No	ClinGen TOPMed
rs765245574 CA5703679	121	D>N		No	ClinGen ExAC
CA378537531 rs371039652	122	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs375030980 CA5703681	123	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA378537538 rs1255809383	124	A>T		No	ClinGen TOPMed
CA5703682 COSM324030 rs189510806	125	R>*	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA5703683 COSM212179 rs143607039	125	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1158612774 CA378537560	128	L>V		No	ClinGen gnomAD
rs985522231 CA214433130	130	V>A		No	ClinGen TOPMed gnomAD
rs368095059 CA214433136	131	G>A		No	ClinGen ESP TOPMed gnomAD
CA214433139 rs201362858	132	I>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA378537998 rs1411432612	133	G>V		No	ClinGen gnomAD
rs375820754 CA5703703	134	S>R		No	ClinGen ExAC gnomAD
CA378538028 rs531711499	135	G>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5703704 rs531711499 COSM1675585	135	G>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs376693502 CA5703706	136	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA378538061 rs1165977282	137	K>E		No	ClinGen gnomAD
COSM1474380 CA5703707 rs756464725	140	T>I	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA214433161 rs146297259	141	S>G		No	ClinGen ESP TOPMed
rs1178324167 CA378538139	142	M>V		No	ClinGen gnomAD
CA5703708 rs139774976	145	G>E		No	ClinGen ESP ExAC gnomAD
COSM1664724 CA378538214 rs1418758996	146	S>F	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5703729 rs144505234	149	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA378539032 rs1346322608	149	Y>D		No	ClinGen gnomAD
rs1281095381 CA378539049	150	T>I		No	ClinGen gnomAD
rs62623677 CA5703731	152	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378539072 rs1213766269	152	I>V		No	ClinGen gnomAD
rs960408212 CA214438690	153	G>E		No	ClinGen TOPMed gnomAD
rs769738718 CA5703733	155	L>P		No	ClinGen ExAC TOPMed gnomAD
CA214438701 rs769738718	155	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs1259307745 CA378539205	160	D>G		No	ClinGen TOPMed gnomAD
rs151175881 CA5703734	161	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA378539225 rs151175881	161	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5703736 rs768514172	162	L>P		No	ClinGen ExAC gnomAD
rs1346537838 CA378539270	165	T>A		No	ClinGen gnomAD
CA5703738 rs761286273	165	T>M		No	ClinGen ExAC TOPMed gnomAD
CA378539289 rs1369300352	166	G>V		No	ClinGen gnomAD
VAR_027748 rs7099565 CA5703740	167	R>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1222081128 CA378539391	173	P>S		No	ClinGen gnomAD
CA378539399 rs1286448409	174	Y>C		No	ClinGen gnomAD
rs199581186 CA5703743	175	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378539404 rs199581186	175	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	176	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378541046 rs1166090581	178	T>I		No	ClinGen gnomAD
CA378541070 rs1390137583	179	Q>K		No	ClinGen gnomAD
TCGA novel	180	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776336611 CA5703763	181	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs572364497 CA5703764	182	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs751207706 CA214444612	183	E>K		No	ClinGen TOPMed
rs765574220 CA5703765	184	G>V		No	ClinGen ExAC TOPMed gnomAD
CA378541300 rs1174897036	186	L>R		No	ClinGen TOPMed
CA5703767 rs11197015	186	L>V		No	ClinGen ExAC gnomAD
CA378541350 rs1234201033	188	K>I		No	ClinGen gnomAD
rs1338556061 CA378541422	190	T>I		No	ClinGen gnomAD
rs764669386 CA5703768	193	I>V		No	ClinGen ExAC gnomAD
CA378541530 rs1438334306	196	V>A		No	ClinGen gnomAD
rs201705910 CA214444647	197	P>L		No	ClinGen gnomAD
rs1186534261 CA378541533	197	P>S		No	ClinGen gnomAD
CA378541539 rs750599308	198	P>H		No	ClinGen ExAC gnomAD
CA5703773 rs750599308	198	P>L		No	ClinGen ExAC gnomAD
rs767688170 CA5703772	198	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1007524239 CA214444658	199	L>F		No	ClinGen TOPMed
rs762997509	199	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA378542121 rs1233447653	207	G>R		No	ClinGen gnomAD
CA378542154 rs1282219997 COSM915088	211	S>L	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1259689316 CA378542159	212	T>I		No	ClinGen gnomAD
rs777699091 CA5703799	212	T>P		No	ClinGen ExAC gnomAD
rs142313108 CA5703801	216	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA378542223 rs1262835945	217	G>D		No	ClinGen gnomAD
CA5703802 rs780701018	218	E>*		No	ClinGen ExAC TOPMed gnomAD
CA378542230 rs780701018	218	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1397361545 CA378542267	220	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	221	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5703804 rs769529870	221	E>V		No	ClinGen ExAC gnomAD
CA5703805 rs779851500	222	A>P		No	ClinGen ExAC gnomAD
rs749731109 CA5703806	223	K>N		No	ClinGen ExAC gnomAD
TCGA novel	223	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA214446106 rs747249892	226	R>G		No	ClinGen Ensembl
rs769087035 CA5703807	230	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5703809 rs562857532	231	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
CA5703810 rs772067082	232	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5703813 rs146130194	234	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5703812 rs146130194	234	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs773380905 CA5703811	234	S>P		No	ClinGen ExAC gnomAD
CA378542504 rs1314663109	236	Q>*		No	ClinGen gnomAD
CA5703814 rs753999980	238	F>L		No	ClinGen ExAC gnomAD
CA5703815 rs138623005	239	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1564702361 CA378542566	240	P>L		No	ClinGen Ensembl
TCGA novel	244	T>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1489092882 CA378542630	246	D>H		No	ClinGen gnomAD
rs1414821860 CA378542757	249	C>S		No	ClinGen gnomAD
rs1369162590 CA378542763	249	C>Y		No	ClinGen gnomAD
CA378542791 rs1405696818	251	G>E		No	ClinGen gnomAD
CA214447815 rs896094465	251	G>R		No	ClinGen Ensembl
rs556793703 CA378542801	252	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs556793703 CA5703838	252	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1463516883 CA378542842	255	I>N		No	ClinGen gnomAD
rs765949483 CA5703840	257	S>R		No	ClinGen ExAC gnomAD
rs967536230 CA214447836	258	L>M		No	ClinGen gnomAD
rs753567737 CA5703841	260	S>N		No	ClinGen ExAC gnomAD
CA5703842 rs754727068	262	I>T		No	ClinGen ExAC gnomAD
rs1294695187 CA378542926	262	I>V		No	ClinGen gnomAD
rs1214290275 CA378542939	263	G>R		No	ClinGen gnomAD
CA5703875 rs749433095	265	E>G		No	ClinGen ExAC gnomAD
rs778703266 CA5703843	265	E>K		No	ClinGen ExAC TOPMed gnomAD
rs749433095 CA378543181	265	E>V		No	ClinGen ExAC gnomAD
CA214448765 rs1015578752	266	L>I		No	ClinGen Ensembl
rs771924475 CA5703876	269	C>S		No	ClinGen ExAC gnomAD
rs202210924 CA214448767	269	C>Y		No	ClinGen TOPMed gnomAD
rs149298330 CA5703877	271	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5703878 rs760515688	272	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5703879 rs766482121	276	T>N		No	ClinGen ExAC gnomAD
CA378543247 rs143535613	277	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5703880 rs143535613	277	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5703881 rs759120215	277	R>Q		No	ClinGen ExAC gnomAD
rs764610758 CA5703882	278	T>S		No	ClinGen ExAC
rs577286665 CA5703884	279	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA214448819 rs980159820	280	Q>E		No	ClinGen TOPMed gnomAD
CA214448827 rs927459438	280	Q>R		No	ClinGen TOPMed gnomAD
CA5703886 rs148334005	284	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5703888 rs757608618	286	E>Q		No	ClinGen ExAC gnomAD
rs200488905 CA5703889	288	H>R		No	ClinGen 1000Genomes ExAC TOPMed
rs750865852 CA5703890	289	A>D		No	ClinGen ExAC gnomAD
CA378543325 rs945765263	290	L>I		No	ClinGen TOPMed gnomAD
CA214448913 rs945765263	290	L>V		No	ClinGen TOPMed gnomAD
rs756221098 CA5703891	294	K>E		No	ClinGen ExAC gnomAD
rs1174975921 CA378543371	296	T>A		No	ClinGen gnomAD
CA214448956 rs995899009	297	I>M		No	ClinGen TOPMed
CA5703894 rs768800712	297	I>T		No	ClinGen ExAC gnomAD
CA5703893 COSM3670455 rs749367290	297	I>V	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	298	D>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771723151 CA5703895	299	D>G		No	ClinGen ESP ExAC gnomAD
rs770782292 CA5703898	301	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378543407 rs1440029032	301	A>V		No	ClinGen gnomAD
CA378543412 rs1290307966	302	Q>P		No	ClinGen gnomAD
CA5703899 rs776739295	305	E>G		No	ClinGen ExAC gnomAD
rs759497067 CA5703900	308	S>*		No	ClinGen ExAC gnomAD
CA378543464 rs1332022292	309	S>F		No	ClinGen TOPMed
CA378543479 rs1211445514	312	P>S		No	ClinGen gnomAD
rs762515853 CA5703903	314	E>*		No	ClinGen ExAC gnomAD
CA5703904 rs763716406	314	E>V		No	ClinGen ExAC gnomAD
TCGA novel	315	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5703906 rs200067972	316	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA5703908 rs750951930	318	K>T		No	ClinGen ExAC TOPMed gnomAD
CA378543522 rs1396334120	319	K>Q		No	ClinGen gnomAD
rs756629825 CA5703909	322	P>S		No	ClinGen ExAC gnomAD
rs542187103 CA5703910	323	E>*		No	ClinGen 1000Genomes ExAC gnomAD
CA5703912 rs755027102	326	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1327270394 CA378543601	330	S>N		No	ClinGen gnomAD
CA5703914 rs971360500	331	C>S		No	ClinGen TOPMed
rs1179749249 CA378543616	332	E>K		No	ClinGen TOPMed
CA378543626 rs1284623105	333	Y>C		No	ClinGen gnomAD
CA5703916 rs748339145	334	I>M		No	ClinGen ExAC gnomAD
CA378543633 rs1592055745	334	I>V		No	ClinGen Ensembl
rs1194047632 CA378543656	337	N>S		No	ClinGen gnomAD
CA214449105 rs977775342	338	E>A		No	ClinGen Ensembl
rs770128532	340	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1483071040 CA378543704	342	E>D		No	ClinGen TOPMed gnomAD
rs1209574262 CA378543705	343	D>N		No	ClinGen gnomAD
CA378543719 rs1254874919	344	D>V		No	ClinGen gnomAD
CA5703919 rs370759585	348	T>M		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with Q8WWH5

1 regional properties for Q8WWH5

Type	Name	Position	InterPro Accession
domain	Pseudouridine synthase II, N-terminal	106 - 255	IPR002501

Functions

		Description
EC Number	5.4.99.25	Transferring other groups
Subcellular Localization	Nucleus Cytoplasm, cytosol	Catalyzes pseudouridylation of mRNAs in the nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
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
pre-miRNA binding	Binding to a precursor microRNA (pre-miRNA) transcript, a stem-loop-containing precursor of microRNA.
pseudouridine synthase activity	Catalysis of the reaction: RNA uridine = RNA pseudouridine. Conversion of uridine in an RNA molecule to pseudouridine by rotation of the C1'-N-1 glycosidic bond of uridine in RNA to a C1'-C5.

4 GO annotations of biological process

Name	Definition
mRNA processing	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide.
mRNA pseudouridine synthesis	The intramolecular conversion of uridine to pseudouridine in an mRNA molecule.
positive regulation of pre-miRNA processing	Any process that activates or increases the frequency, rate or extent of pre-microRNA processing.
tRNA modification	The covalent alteration of one or more nucleotides within a tRNA molecule to produce a tRNA molecule with a sequence that differs from that coded genetically.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O60832	DKC1	H/ACA ribonucleoprotein complex subunit DKC1	Homo sapiens (Human)	PR
Q8C0D0	Trub1	Pseudouridylate synthase TRUB1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAASEAAVVS	SPSLKTDTSP	VLETAGTVAA	MAATPSARAA	AAVVAAAART	GSEARVSKAA
70	80	90	100	110	120
LATKLLSLSG	VFAVHKPKGP	TSAELLNRLK	EKLLAEAGMP	SPEWTKRKKQ	TLKIGHGGTL
130	140	150	160	170	180
DSAARGVLVV	GIGSGTKMLT	SMLSGSKRYT	AIGELGKATD	TLDSTGRVTE	EKPYDKITQE
190	200	210	220	230	240
DIEGILQKFT	GNIMQVPPLY	SALKKDGQRL	STLMKRGEVV	EAKPARPVTV	YSISLQKFQP
250	260	270	280	290	300
PFFTLDVECG	GGFYIRSLVS	DIGKELSSCA	NVLELTRTKQ	GPFTLEEHAL	PEDKWTIDDI
310	320	330	340
AQSLEHCSSL	FPAELALKKS	KPESNEQVLS	CEYITLNEPK	REDDVIKTC