AiPD: Autoinhibited Protein Database

Q6PK04

Gene name	CCDC137 (cPERP-B)
Protein name	Coiled-coil domain-containing protein 137
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:339230
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-289 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-289 (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 Q6PK04

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6PK04-F1	Predicted				AlphaFoldDB

332 variants for Q6PK04

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA8839365 rs776384867	2	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1393629863 CA401479690	2	A>S		No	ClinGen TOPMed
CA8839364 rs776384867	2	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1598731067 CA401479696	3	G>R		No	ClinGen Ensembl
CA401479704 rs1393619083	3	G>V		No	ClinGen gnomAD
CA8839368 rs763035316	4	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1051872982 CA295111537	4	A>T		No	ClinGen Ensembl
rs1049510200 CA295111541	5	G>A		No	ClinGen TOPMed
rs1049510200 CA401479716	5	G>D		No	ClinGen TOPMed
rs541857803 CA8839369	6	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401479724 rs1412921503	6	R>P		No	ClinGen gnomAD
rs541857803 CA401479719	6	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1355862904 CA401479729	7	G>*		No	ClinGen TOPMed gnomAD
rs761263729 CA295111545	7	G>E		No	ClinGen gnomAD
CA401479726 rs1355862904	7	G>R		No	ClinGen TOPMed gnomAD
CA8839370 rs559897149	8	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8839373 rs374543963	9	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374543963 CA401479747	9	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401479745 rs1009827502	9	A>P		No	ClinGen TOPMed gnomAD
CA295111552 rs1009827502	9	A>S		No	ClinGen TOPMed gnomAD
rs374543963 CA8839372	9	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8839376 rs749743883	11	S>C		No	ClinGen ExAC TOPMed gnomAD
CA295111565 rs906716901	11	S>T		No	ClinGen gnomAD
CA401479766 rs749743883	11	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs755573812 CA8839377	12	R>S		No	ClinGen ExAC TOPMed gnomAD
CA295111581 CA295111577 COSM1199853 rs1003013854	13	V>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs777115730 CA8839378	14	Q>R		No	ClinGen ExAC gnomAD
CA401479800 rs1374392890	15	A>T		No	ClinGen gnomAD
CA401479841 rs1399204663	19	S>C		No	ClinGen gnomAD
CA8839379 rs746570146	19	S>N		No	ClinGen ExAC gnomAD
CA401479863 rs1321469116	21	R>Q		No	ClinGen TOPMed
rs770518920 CA8839380	21	R>W		No	ClinGen ExAC gnomAD
rs1338006857 CA401479868	22	R>G		No	ClinGen gnomAD
rs1022079526 CA295111597	23	A>V		No	ClinGen TOPMed gnomAD
rs1035468818 CA295111599	24	R>G		No	ClinGen TOPMed gnomAD
rs552611249 CA8839382	24	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552611249 CA8839381	24	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775416849 CA8839384	25	G>R		No	ClinGen ExAC gnomAD
CA401479930 rs1598731219	29	V>L		No	ClinGen Ensembl
rs1211930743 CA401479941	30	Q>*		No	ClinGen gnomAD
CA401479957 rs1598731228	31	P>L		No	ClinGen Ensembl
CA8839385 rs762798245	33	G>R		No	ClinGen ExAC gnomAD
TCGA novel	34	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8839387 rs774550976	34	K>M		No	ClinGen ExAC
rs983651478 CA295111676	36	R>C		No	ClinGen TOPMed
CA295111680 rs942308243	37	P>Q		No	ClinGen TOPMed
CA401480025 rs1393899668	38	A>V		No	ClinGen gnomAD
rs1175397389 CA401480034	39	P>L		No	ClinGen TOPMed gnomAD
rs767809799 CA8839389	39	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1486806280 CA401480046	41	P>S		No	ClinGen TOPMed
CA8839391 rs199606157	44	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8839408 rs760774973	46	K>N		No	ClinGen ExAC TOPMed gnomAD
rs773491834 CA8839407	46	K>R		No	ClinGen ExAC gnomAD
rs766673567 CA8839410	48	K>N		No	ClinGen ExAC TOPMed
rs61742303 CA8839412	50	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8839411 rs754101321	50	K>T		No	ClinGen ExAC gnomAD
rs765661660 CA8839413	54	K>E		No	ClinGen ExAC gnomAD
CA8839414 rs368297027	56	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA401480200 rs1439044875	56	K>M		No	ClinGen gnomAD
CA8839416 rs780679363	57	N>K		No	ClinGen ExAC gnomAD
CA401480219 rs1368401905	58	Q>E		No	ClinGen gnomAD
rs1319061600 CA401480251	60	E>D		No	ClinGen TOPMed gnomAD
rs1305520593 COSM3691934 CA401480242	60	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8839417 rs372565856	62	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA401480309 rs1357312280	66	R>Q		No	ClinGen gnomAD
rs1010830971 CA295112556	66	R>W		No	ClinGen TOPMed gnomAD
rs865845368 CA295112563	67	L>F		No	ClinGen Ensembl
rs1448238370 CA401480322	67	L>R		No	ClinGen TOPMed
rs779778634 CA8839419	68	R>Q		No	ClinGen ExAC gnomAD
CA401480333 rs1480035209	69	E>*		No	ClinGen TOPMed gnomAD
CA401480330 rs1480035209	69	E>K		No	ClinGen TOPMed gnomAD
CA401480352 rs1252622028	70	I>M		No	ClinGen TOPMed gnomAD
rs1419642211 CA401480373	72	R>K		No	ClinGen TOPMed gnomAD
rs748996724 CA8839420	73	S>G		No	ClinGen ExAC gnomAD
rs768503843 CA8839422	74	R>C		No	ClinGen ExAC gnomAD
CA401480390 rs768503843	74	R>G		No	ClinGen ExAC gnomAD
CA8839423 rs748091926	74	R>H		No	ClinGen ExAC TOPMed gnomAD
rs748091926 CA8839425	74	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8839424 rs748091926 COSM1189623	74	R>P	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs768503843 CA8839421	74	R>S		No	ClinGen ExAC gnomAD
rs1568199784 CA401480395	75	Q>K		No	ClinGen Ensembl
CA8839427 rs747134240	80	P>L		No	ClinGen ExAC TOPMed gnomAD
rs747134240 CA8839428	80	P>R		No	ClinGen ExAC TOPMed gnomAD
rs574701572 CA401480478	81	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8839429 rs776912405	81	I>V		No	ClinGen ExAC gnomAD
rs1440294029 CA401480482	82	S>G		No	ClinGen TOPMed
rs765569757 CA8839431	82	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1234687426 CA401480509	84	K>R		No	ClinGen gnomAD
rs1452776119 CA401480532	86	R>T		No	ClinGen TOPMed
CA401480528 rs1290178955	86	R>W		No	ClinGen gnomAD
CA8839434 rs763421930	88	K>Q		No	ClinGen ExAC gnomAD
CA295112650 rs183712431	90	A>T		No	ClinGen 1000Genomes gnomAD
rs1213376181 CA401480753	91	Q>*		No	ClinGen gnomAD
rs1271279557 CA401480757	91	Q>H		No	ClinGen gnomAD
rs1403576545 CA401480754	91	Q>P		No	ClinGen TOPMed gnomAD
rs1200148798 CA401480773	94	F>V		No	ClinGen gnomAD
rs758269158 CA8839461	95	R>G		No	ClinGen ExAC gnomAD
rs1390860502 CA401480781	95	R>T		No	ClinGen gnomAD
CA8839462 rs777509772	96	K>R		No	ClinGen ExAC TOPMed gnomAD
rs757205665 CA8839464	99	E>Q		No	ClinGen ExAC gnomAD
rs1244099623 CA401480819	100	K>N		No	ClinGen TOPMed
CA401480845 rs1436556200	104	G>E		No	ClinGen Ensembl
CA401480842 rs1338928244	104	G>R		No	ClinGen TOPMed
rs1327652371 CA401480848	105	E>K		No	ClinGen gnomAD
CA401480873 rs1288746473	108	D>A		No	ClinGen gnomAD
CA401480872 rs1444365636	108	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8839469 rs201889148	110	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8839470 rs749587658	110	A>V		No	ClinGen ExAC gnomAD
rs1367315210 CA401480897	112	P>A		No	ClinGen TOPMed
TCGA novel	113	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754471106	117	R>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8839473 rs774638123	117	R>K		No	ClinGen ExAC TOPMed gnomAD
CA401480935 rs774638123	117	R>T		No	ClinGen ExAC TOPMed gnomAD
rs527515702 CA8839477	119	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs527515702 CA8839476	119	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8839480 rs200847273	122	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA8839479 rs376921756	122	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs376921756 CA401480965	122	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA8839482 CA401480971 rs199850384	123	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8839483 rs373680813	124	A>S		No	ClinGen ESP ExAC TOPMed
CA401480979 rs1393779586	124	A>V		No	ClinGen gnomAD
CA401480993 rs1431480475	126	I>F		No	ClinGen gnomAD
rs1431480475 CA401480992	126	I>V		No	ClinGen gnomAD
rs7226091 CA8839485 VAR_050739 CA401481004	127	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP
CA401481007 rs1412666941	128	R>C		No	ClinGen gnomAD
CA8839486 COSM271151 rs200920452	128	R>H	large_intestine central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs200920452 CA8839487	128	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA401481016 rs1245883530	129	M>I		No	ClinGen gnomAD
CA401481011 rs1342472268	129	M>L		No	ClinGen TOPMed gnomAD
CA401481010 rs1342472268	129	M>V		No	ClinGen TOPMed gnomAD
rs1269597933 CA401481022	130	Q>R		No	ClinGen gnomAD
rs375275565 CA8839488	131	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8839490 rs372342144	133	A>T		No	ClinGen ESP ExAC gnomAD
rs900055555 CA295114463	134	Q>E		No	ClinGen TOPMed gnomAD
CA401481053 rs1258774190	134	Q>H		No	ClinGen gnomAD
rs1457933641 CA401481050	134	Q>R		No	ClinGen gnomAD
rs1388013701 CA401481058	135	H>L		No	ClinGen TOPMed
rs772590238 CA8839492	135	H>Y		No	ClinGen ExAC gnomAD
CA401481062 rs1192034097	136	V>L		No	ClinGen gnomAD
CA8839494 rs759054786	138	F>C		No	ClinGen ExAC TOPMed gnomAD
rs1598733658 CA401481078	138	F>L		No	ClinGen Ensembl
rs1450818665 CA401481073	138	F>V		No	ClinGen gnomAD
CA401481089 rs1481660262	140	S>I		No	ClinGen TOPMed
rs1180492672 CA401481085	140	S>R		No	ClinGen TOPMed
rs1051835709 CA295114486	140	S>R		No	ClinGen TOPMed gnomAD
CA8839495 rs769412116	142	N>K		No	ClinGen ExAC gnomAD
CA8839496 rs375302711	143	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs762660080 CA8839497	143	Q>R		No	ClinGen ExAC gnomAD
CA8839499 rs751322931	146	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763706159 CA8839498	146	R>W		No	ClinGen ExAC TOPMed gnomAD
CA401481205 rs1232831915	152	A>S		No	ClinGen gnomAD
rs1258067341 CA401481210	152	A>V		No	ClinGen gnomAD
CA8839501 rs767426074	154	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8839500 rs761547990	154	P>S		No	ClinGen ExAC TOPMed gnomAD
rs750781558 CA8839504	155	K>M		No	ClinGen ExAC TOPMed gnomAD
rs573143099 CA8839502	155	K>Q		No	ClinGen 1000Genomes ExAC
rs750781558 CA8839503	155	K>R		No	ClinGen ExAC TOPMed gnomAD
rs750781558 CA401481232	155	K>T		No	ClinGen ExAC TOPMed gnomAD
rs763418221 CA295114514	156	E>G		No	ClinGen Ensembl
rs1466013061 CA401481237	156	E>K		No	ClinGen gnomAD
rs74808058 CA8839506 COSM1195978	157	K>N	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1452423200 CA401481264	158	S>P		No	ClinGen gnomAD
CA401481272 rs1178154004	159	E>K		No	ClinGen gnomAD
rs957815363 CA295114515	160	Q>H		No	ClinGen TOPMed gnomAD
rs1377933888 CA401481285	160	Q>K		No	ClinGen gnomAD
rs1598733722 CA401481327	163	A>E		No	ClinGen Ensembl
CA401481321 rs1452825832	163	A>T		No	ClinGen gnomAD
rs779033426 CA401481359	166	A>G		No	ClinGen ExAC TOPMed gnomAD
CA295114516 rs1010706639	166	A>S		No	ClinGen TOPMed
rs1010706639 CA401481353	166	A>T		No	ClinGen TOPMed
rs779033426 CA8839507	166	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1182738480 CA401482022	167	F>L		No	ClinGen TOPMed
CA401482016 rs1258743563	167	F>Y		No	ClinGen TOPMed
rs765438596 CA8839526	168	Q>P		No	ClinGen ExAC gnomAD
rs758713013 CA8839528	170	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1199854 rs184068585 CA8839527	170	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs778251305 CA8839529	171	R>*		No	ClinGen ExAC TOPMed gnomAD
COSM196598 CA401482062 rs1183118474	171	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA295115270 rs1002535882	173	D>G		No	ClinGen TOPMed gnomAD
CA8839530 rs747425441	174	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1350544463 CA401482107	175	V>F		No	ClinGen gnomAD
rs781772780 CA295115286	176	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781772780 CA8839532	176	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8839533 rs748766769 COSM1522788	176	R>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs748766769 CA8839534	176	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs769984058 CA8839536	177	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8839535 VAR_050740 rs11150805	177	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA401482131 rs1166770534	178	K>I		No	ClinGen TOPMed
rs771755604 CA8839538	182	K>E		No	ClinGen ExAC gnomAD
rs79563828 CA8839539	183	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1475124552 CA401482203	184	A>T		No	ClinGen TOPMed
rs1255809049 CA401482223	185	D>G		No	ClinGen TOPMed
rs1483365723 CA401482235	186	R>G		No	ClinGen TOPMed gnomAD
rs1483365723 CA401482237	186	R>W		No	ClinGen TOPMed gnomAD
CA8839543 rs188624573	187	L>M		No	ClinGen 1000Genomes ExAC gnomAD
rs188624573 CA8839542	187	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs201839862 CA295115381	188	E>G		No	ClinGen 1000Genomes
rs1598734429 CA401482314	191	L>V		No	ClinGen Ensembl
rs963570160 CA295115385	192	L>F		No	ClinGen Ensembl
CA8839545 COSM985897 rs752861811	193	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8839546 rs763062847	193	R>P		No	ClinGen ExAC gnomAD
CA8839547 rs763062847	193	R>Q		No	ClinGen ExAC gnomAD
rs1194077781 CA401482346	194	D>N		No	ClinGen TOPMed
CA8839567 rs767994197	195	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1455370414 CA401482412	196	V>L		No	ClinGen gnomAD
rs1283269325 CA401482426	197	K>R		No	ClinGen TOPMed
CA8839569 rs201200598	199	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA401482473 rs1273035164	201	V>A		No	ClinGen TOPMed gnomAD
CA8839570 rs780635957	201	V>I		No	ClinGen ExAC gnomAD
CA8839572 rs757915022	204	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs777319385 CA8839573	204	Q>R		No	ClinGen ExAC gnomAD
rs1465421191 CA401482512	205	P>H		No	ClinGen gnomAD
rs1270034648 CA401482504	205	P>S		No	ClinGen gnomAD
rs373936708 CA295115597	206	P>L		No	ClinGen ESP ExAC gnomAD
TCGA novel	206	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8839575 rs373936708	206	P>R		No	ClinGen ESP ExAC gnomAD
CA8839579 rs745696787 COSM985898	207	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8839577 rs183627821	207	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1026159450 CA295115600	207	E>K		No	ClinGen Ensembl
rs1471371445 CA401482551	210	A>T		No	ClinGen gnomAD
CA401482556 rs1383887970	210	A>V		No	ClinGen TOPMed gnomAD
CA401482563 rs1397935651	211	R>K		No	ClinGen gnomAD
rs775504743 CA401482569	211	R>S		No	ClinGen ExAC TOPMed gnomAD
rs763070699 CA8839581	212	P>S		No	ClinGen ExAC TOPMed gnomAD
rs763070699 CA401482572	212	P>T		No	ClinGen ExAC TOPMed gnomAD
CA295115624 rs1035863759	213	Q>*		No	ClinGen TOPMed
CA8839583 rs768844136	215	S>I		No	ClinGen ExAC gnomAD
CA8839582 rs768844136	215	S>N		No	ClinGen ExAC gnomAD
rs201656915 CA8839585	216	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs201656915 CA8839586	216	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8839587 rs761134731	218	K>N		No	ClinGen ExAC TOPMed gnomAD
rs552243530 CA401482630	219	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552243530 CA8839589	219	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373550389	220	Q>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8839590 rs755542085	220	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA401482659 rs1429946688	221	P>R		No	ClinGen TOPMed
CA295115943 rs868744173	221	P>S		No	ClinGen Ensembl
CA295115939 rs868744173	221	P>T		No	ClinGen Ensembl
CA295115951 rs867466889	225	S>*		No	ClinGen TOPMed gnomAD
CA295115949 rs370963207	225	S>A		No	ClinGen ESP TOPMed gnomAD
CA401482683 rs867466889	225	S>L		No	ClinGen TOPMed gnomAD
CA401482681 rs370963207	225	S>P		No	ClinGen ESP TOPMed gnomAD
CA401482685 rs1231260237	226	Q>*		No	ClinGen gnomAD
CA295115960 CA8839612 rs765755363	227	M>I		No	ClinGen ExAC
rs1344784317 CA401482693	227	M>V		No	ClinGen TOPMed gnomAD
rs751028100 CA8839613	228	L>V		No	ClinGen ExAC gnomAD
VAR_050741 CA8839615 rs11546630	229	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs371084134 COSM1387332 CA8839614	229	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs750078935 CA8839616	231	L>P		No	ClinGen ExAC TOPMed gnomAD
rs755790449 CA8839617	233	S>N		No	ClinGen ExAC gnomAD
CA295115984 rs988675305	234	P>L		No	ClinGen TOPMed
rs779868293 CA8839618	234	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1376814763 CA401482764	235	G>C		No	ClinGen TOPMed gnomAD
rs1376814763 CA401482766	235	G>S		No	ClinGen TOPMed gnomAD
CA401482770 rs1464327795	235	G>V		No	ClinGen gnomAD
rs913150471 CA295118689	237	V>A		No	ClinGen TOPMed gnomAD
rs913150471 CA401483123	237	V>E		No	ClinGen TOPMed gnomAD
CA295118695 rs897254986	238	S>P		No	ClinGen Ensembl
CA8839620 rs754917458	240	P>S		No	ClinGen ExAC gnomAD
rs1319889659 CA401483158	241	L>V		No	ClinGen gnomAD
rs371268602 CA8839622	242	T>I		No	ClinGen ESP ExAC gnomAD
rs1598734851 CA401483164	242	T>P		No	ClinGen Ensembl
CA8839624 rs549888801	243	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771106380 CA8839626	244	S>F		No	ClinGen ExAC gnomAD
CA401483194 rs1598734865	245	L>R		No	ClinGen Ensembl
CA8839627 rs776931304	245	L>V		No	ClinGen ExAC gnomAD
rs1207720380 CA401483206	246	A>V		No	ClinGen gnomAD
CA8839628 rs777978705	247	R>C		No	ClinGen ExAC TOPMed gnomAD
rs770218523 CA8839629	247	R>H		No	ClinGen ExAC TOPMed gnomAD
CA295118705 rs535519979	249	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs535519979 CA8839631	249	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775991056 CA8839630	249	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8839633 rs749942944	250	I>T		No	ClinGen ExAC gnomAD
CA8839634 rs760357623	251	V>L		No	ClinGen ExAC gnomAD
CA295118715 rs917355697	252	E>K		No	ClinGen TOPMed
CA401483289 rs1390630802	254	E>*		No	ClinGen gnomAD
CA8839636 rs766156952	254	E>V		No	ClinGen ExAC gnomAD
rs1303778366 CA401483297	255	R>G		No	ClinGen gnomAD
rs1568202506 CA401483301	255	R>T		No	ClinGen Ensembl
rs1346556640 CA401483312	256	E>A		No	ClinGen gnomAD
CA295118723 rs1022695646	256	E>K		No	ClinGen gnomAD
rs753648466 CA401483325	257	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8839637 rs753648466	257	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA401483321 rs1286033386	257	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1568202514 CA401483334	258	A>V		No	ClinGen Ensembl
CA401483342 rs1487426109	259	V>A		No	ClinGen gnomAD
rs1036493982 CA295118725	259	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8839639 rs778907421	260	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA8839640 rs752673813	261	A>S		No	ClinGen ExAC gnomAD
rs752673813 CA8839641	261	A>T		No	ClinGen ExAC gnomAD
CA401483364 rs1379888799	261	A>V		No	ClinGen TOPMed gnomAD
rs1179800176 CA628023341	262	Y>*		No	ClinGen gnomAD
CA401483384 rs1410006026	263	R>I		No	ClinGen TOPMed gnomAD
rs777883914 CA8839642 CA401483386	263	R>S		No	ClinGen ExAC TOPMed gnomAD
CA8839643 rs747081294	264	A>P		No	ClinGen ExAC gnomAD
CA401483388 rs747081294	264	A>T		No	ClinGen ExAC gnomAD
CA8839644 rs375426067	264	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs770130955 CA8839647	265	L>F		No	ClinGen ExAC gnomAD
CA401483399 rs1295827652	265	L>V		No	ClinGen TOPMed gnomAD
CA8839648 rs775901084	266	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA8839651 rs769092974	268	R>Q		No	ClinGen ExAC TOPMed
COSM1189624 CA8839650 rs112699648	268	R>W	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA401483448 rs1223996832	269	Q>H		No	ClinGen TOPMed gnomAD
CA295118734 rs965539168	269	Q>R		No	ClinGen TOPMed
CA401483451 rs1598734987	270	Q>E		No	ClinGen Ensembl
CA401483456 rs1311312294	270	Q>R		No	ClinGen TOPMed gnomAD
CA8839654 rs373340939	271	Q>H		No	ClinGen ESP ExAC gnomAD
CA401483463 rs1184592242	271	Q>K		No	ClinGen TOPMed
rs1246851230 CA401483470	271	Q>R		No	ClinGen gnomAD
rs766065168 CA8839655	272	L>M		No	ClinGen ExAC TOPMed gnomAD
CA8839656 rs753561494	272	L>P		No	ClinGen ExAC gnomAD
rs1023818265 CA295118741	273	H>Y		No	ClinGen gnomAD
CA401483498 rs1178013908	274	G>E		No	ClinGen gnomAD
CA401483495 rs61742298 CA8839658	274	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8839659 rs752481036	275	E>K		No	ClinGen ExAC TOPMed gnomAD
rs373227595 CA8839660	276	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA401483520 rs777603327	276	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8839661 rs777603327	276	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8839662 rs534087953	277	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA401483528 rs534087953	277	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1429740841 CA401483522	277	P>T		No	ClinGen gnomAD
CA8839663 rs757342170	278	H>D		No	ClinGen ExAC gnomAD
rs1241073009 CA401483565	281	S>C		No	ClinGen TOPMed
CA401483560 rs1301925959	281	S>P		No	ClinGen TOPMed gnomAD
rs370516445 CA401483574	282	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8839666 rs370516445	282	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs11546631 VAR_061582 CA8839665	282	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs373358953 CA8839669	286	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8839668 rs749640342	286	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA8839670 rs148449642	287	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1482431239 CA401483624	287	P>S		No	ClinGen gnomAD
rs1392369211 CA401483659	290	L>C		No	ClinGen gnomAD

No associated diseases with Q6PK04

No regional properties for Q6PK04

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q6PK04

Functions

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

4 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.
fibrillar center	A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
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.
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.

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

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8R0K4	Ccdc137	Coiled-coil domain-containing protein 137	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAGAGRGAAV	SRVQAGPGSP	RRARGRQQVQ	PLGKQRPAPW	PGLRSKEKKK	VNCKPKNQDE
70	80	90	100	110	120
QEIPFRLREI	MRSRQEMKNP	ISNKKRKKAA	QVTFRKTLEK	EAKGEEPDIA	VPKFKQRKGE
130	140	150	160	170	180
SDGAYIHRMQ	QEAQHVLFLS	KNQAIRQPEV	QAAPKEKSEQ	KKAKKAFQKR	RLDKVRRKKE
190	200	210	220	230	240
EKAADRLEQE	LLRDTVKFGE	VVLQPPELTA	RPQRSVSKDQ	PGRRSQMLRM	LLSPGGVSQP
250	260	270	280
LTASLARQRI	VEEERERAVQ	AYRALKQRQQ	QLHGERPHLT	SRKKPEPQL