AiPD: Autoinhibited Protein Database

Q96D53

Gene name	COQ8B
Protein name	Atypical kinase COQ8B, mitochondrial
Names	AarF domain-containing protein kinase 4, Coenzyme Q protein 8B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79934
EC number
Protein Class

Descriptions

COQ8B is an atypical kinase involved in the biosynthesis of coenzyme Q. A homolgous protein, COQ8A (Q8NI60), is autoinhibited by the intramolecular interaction between N-terminal region containing KxGQ motif and catalytic domain. The KxGQ motif may occlude the substrate binding site of the kinase domain.

Autoinhibitory domains (AIDs)

155-158 (KxGQ motif) SS

Target domain	175-424 (ADCK3-like domain)
Relief mechanism	PTM
Assay

AID

155-158 (KxGQ motif)

Target domain

175-424 (ADCK3-like domain)

Relief mechanism

PTM (Autophosphorylation)

Assay

Accessory elements

No accessory elements

References

Stefely JA et al. (2015) "Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis", Molecular cell, 57, 83-94

Autoinhibited structure

Activated structure

1 structures for Q96D53

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96D53-F1	Predicted				AlphaFoldDB

492 variants for Q96D53

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs2082092886 RCV001281241	147	C>R	Nephrotic syndrome, type 9 [ClinVar]	Yes	ClinVar dbSNP
CA145471 rs398122978 VAR_070552	178	R>W	NPHS9 [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
RCV001851012 rs764587648 RCV000416403	214	P>L	Nephrotic syndrome, type 9 [ClinVar]	Yes	ClinVar dbSNP
RCV001575910 rs200841458 RCV001281242 CA9450297	246	S>N	Nephrotic syndrome, type 9 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001328147 rs769834604 CA9450294 RCV001281243	250	D>H	Nephrotic syndrome, type 9 Nephrotic syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs769834604 RCV001270630 CA9450293	250	D>N	Nephrotic syndrome, type 9 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_070553 rs398122979 CA145472	286	D>G	NPHS9 [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
rs369573693 VAR_070554 COSM996793 CA145475 COSM996792	320	R>W	endometrium NPHS9 [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_070555 rs398122981 CA145476	343	R>W	NPHS9 [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
rs1555756433 CA405960515 RCV000623406	346	I>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1318617277 RCV001329376 CA405959224	396	E>K	Nephrotic syndrome, type 9 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000077758 rs398122982	400	H>missing	Nephrotic syndrome, type 9 [ClinVar]	Yes	ClinVar dbSNP
rs398122983 RCV000077759	452	Q>missing	Nephrotic syndrome, type 9 [ClinVar]	Yes	ClinVar dbSNP
RCV001333231 CA9450015 rs185934352	464	R>H	Nephrotic syndrome, type 9 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_070556 rs1057519347 CA16044193	477	R>Q	NPHS9 [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
CA9449978 rs746915084 RCV001329377	518	R>C	Nephrotic syndrome, type 9 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1243109004 CA405968670	3	L>R		No	ClinGen gnomAD
rs1299007855 CA405968665	4	K>R		No	ClinGen gnomAD
CA308450983 rs916708250	5	V>A		No	ClinGen TOPMed
CA405968657 rs916708250	5	V>G		No	ClinGen TOPMed
rs975735231 CA308450982	6	G>E		No	ClinGen TOPMed gnomAD
rs992644489 CA405968651	7	G>C		No	ClinGen TOPMed gnomAD
CA9450570 rs113871093	7	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs992644489 CA308450981	7	G>S		No	ClinGen TOPMed gnomAD
CA405968648 rs113871093	7	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1161056851 CA405968637	9	L>P		No	ClinGen gnomAD
rs1389832134 CA405968636	10	R>G		No	ClinGen TOPMed
CA9450567 rs761725676	10	R>P		No	ClinGen ExAC TOPMed gnomAD
rs761725676 CA9450568	10	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA405968635 rs1389832134	10	R>W		No	ClinGen TOPMed
rs1390497792 CA405968630	11	G>E		No	ClinGen gnomAD
rs776470920 CA405968620	13	G>C		No	ClinGen ExAC TOPMed gnomAD
rs776470920 CA9450566	13	G>S		No	ClinGen ExAC TOPMed gnomAD
CA405968603 rs1254790261	15	Q>H		No	ClinGen gnomAD
CA9450564 rs376750623	17	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs376750623 CA9450563	17	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA9450562 rs771869551	18	Q>*		No	ClinGen ExAC
CA405968569 rs1481731248	21	G>A		No	ClinGen TOPMed gnomAD
CA405968570 rs1481731248	21	G>D		No	ClinGen TOPMed gnomAD
CA9450559 rs778568145	23	P>L		No	ClinGen ExAC gnomAD
rs1228079798 CA405968552	23	P>S		No	ClinGen gnomAD
rs1233381628 CA405968545	24	C>F		No	ClinGen gnomAD
CA9450558 rs770418178	24	C>R		No	ClinGen ExAC TOPMed gnomAD
rs748655191 CA9450556	29	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1599641722 CA405968501	31	P>R		No	ClinGen Ensembl
CA308450936 rs1011449524	31	P>S		No	ClinGen TOPMed gnomAD
rs1011449524 CA405968505	31	P>T		No	ClinGen TOPMed gnomAD
CA9450553 rs574818158	33	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9450552 rs145961802	33	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs574818158 CA405968492	33	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1057519345 CA16044195	34	W>*		No	ClinGen TOPMed
rs780464841 CA9450535	37	C>F		No	ClinGen ExAC gnomAD
rs1433003597 CA405968454	37	C>R		No	ClinGen TOPMed
rs780464841 CA9450534	37	C>Y		No	ClinGen ExAC gnomAD
CA9450533 rs558377495	39	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA9450532 rs746136543	42	A>D		No	ClinGen ExAC
CA308450797 rs368525795	45	F>L		No	ClinGen Ensembl
rs1181649872 CA405968385	47	Q>*		No	ClinGen TOPMed gnomAD
rs1181649872 CA405968386	47	Q>E		No	ClinGen TOPMed gnomAD
CA9450531 rs778932483	48	D>N		No	ClinGen ExAC gnomAD
rs761852105 CA308450779	50	P>H		No	ClinGen Ensembl
rs761852105 CA308450778	50	P>L		No	ClinGen Ensembl
rs1442391421 CA405968359	51	G>E		No	ClinGen TOPMed gnomAD
rs201791035 CA405968345	53	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9450529 rs201791035	53	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9450528 rs763876478	57	E>K		No	ClinGen ExAC gnomAD
rs1329158383 CA405968314	58	D>G		No	ClinGen gnomAD
CA405968318 rs1223554837	58	D>N		No	ClinGen TOPMed
CA9450527 COSM996810 COSM996811 rs756079490	60	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA405968301 rs752533752	60	R>H		No	ClinGen ExAC TOPMed gnomAD
rs752533752 CA9450526	60	R>L		No	ClinGen ExAC TOPMed gnomAD
rs767476347 CA9450525	61	R>G		No	ClinGen ExAC gnomAD
CA9450524 rs759235679	62	A>T		No	ClinGen ExAC gnomAD
rs113358395 CA308450754	63	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs548830266 CA9450522	63	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs548830266 CA9450521	63	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs113358395 RCV000676546 CA9450523	63	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9450520 rs373891229	66	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9450519 rs373891229	66	R>G		No	ClinGen ExAC TOPMed gnomAD
CA405968270 rs1461368345	66	R>H		No	ClinGen TOPMed
rs747575468 CA9450518	68	R>G		No	ClinGen ExAC gnomAD
rs1433123797 CA405968253	69	K>R		No	ClinGen gnomAD
CA9450516 rs566061730	70	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs979604322 CA308450723	71	P>S		No	ClinGen Ensembl
rs145805129 CA9450515	72	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1455909460 CA405968238	72	R>W		No	ClinGen TOPMed gnomAD
CA405968233 rs1164250541	73	P>S		No	ClinGen gnomAD
rs1294177680 CA405968151	75	L>Q		No	ClinGen gnomAD
CA9450497 rs761138042	76	S>C		No	ClinGen ExAC TOPMed gnomAD
CA405968112 rs1430742184	77	D>E		No	ClinGen TOPMed gnomAD
rs775935475 CA9450496	77	D>N		No	ClinGen ExAC gnomAD
RCV000427417 VAR_041420 CA9450495 RCV000676545 rs11538384	78	R>C		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs367562594 CA9450494	78	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9450492 rs530695406	80	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749579754 CA405968072	80	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9450491 rs749579754	80	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1291233620 CA405968065	81	E>*		No	ClinGen gnomAD
rs1476860734 CA405968058	81	E>G		No	ClinGen gnomAD
rs777689639 COSM996808 COSM996807 CA9450490	82	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1205636649 CA405968041	82	R>H		No	ClinGen gnomAD
rs769957432 CA9450489	83	K>N		No	ClinGen ExAC TOPMed gnomAD
CA405967959 rs1389641910	87	S>C		No	ClinGen Ensembl
rs748263613 CA9450488	88	R>C		No	ClinGen ExAC gnomAD
CA9450487 rs781221940	88	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1302118464 CA405967921	89	I>V		No	ClinGen gnomAD
CA9450486 rs754975339	91	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9450485 rs751395587	91	R>H		No	ClinGen ExAC TOPMed gnomAD
rs754975339 CA308450551	91	R>S		No	ClinGen ExAC TOPMed gnomAD
CA405967792 rs1290399445	95	F>L		No	ClinGen gnomAD
rs895377372 CA308450528	95	F>S		No	ClinGen TOPMed
CA405967749 rs1221397795	96	G>A		No	ClinGen TOPMed
CA308450525 rs542035392	96	G>W		No	ClinGen 1000Genomes
rs757967541 CA9450483	97	G>R		No	ClinGen ExAC gnomAD
CA405967733 rs757967541	97	G>R		No	ClinGen ExAC gnomAD
CA405967003 rs1390276635	97	G>V		No	ClinGen gnomAD
rs1035679084 CA308448151	100	V>G		No	ClinGen Ensembl
CA9450462 rs745669537	100	V>L		No	ClinGen ExAC TOPMed gnomAD
CA405966991 rs745669537	100	V>M		No	ClinGen ExAC TOPMed gnomAD
CA405966978 rs1166676243	102	L>S		No	ClinGen gnomAD
CA405966941 rs1599637308	106	V>G		No	ClinGen Ensembl
rs377240527 CA9450460	106	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1158790114 CA405966934	107	L>P		No	ClinGen Ensembl
CA405966913 rs199930495	109	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9450458 rs199930495	109	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1328809977 CA405966896	110	M>L		No	ClinGen gnomAD
COSM158925 rs755454680 COSM158924 CA9450457	113	K>N	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM158925 rs755454680 CA308448101 COSM158924	113	K>N	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs148374624 CA9450456	115	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9450455 rs766819473	116	P>S		No	ClinGen ExAC gnomAD
rs773453874 CA9450453	118	G>V		No	ClinGen ExAC gnomAD
rs765552552 CA308448057	119	R>C		No	ClinGen ExAC TOPMed gnomAD
rs765552552 CA9450452	119	R>G		No	ClinGen ExAC TOPMed gnomAD
rs539108283 CA9450451	119	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA308448042 rs539108283	119	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA405966740 rs765552552	119	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1050959239 CA308448028	120	L>Q		No	ClinGen TOPMed
CA405966718 rs1257761086	121	Q>P		No	ClinGen gnomAD
CA9450450 rs776833447	123	E>Q		No	ClinGen ExAC gnomAD
rs1434033268 CA405965962	123	E>V		No	ClinGen gnomAD
CA308446040 rs930019602	124	G>D		No	ClinGen TOPMed gnomAD
rs750808380 CA9450435	127	G>E		No	ClinGen ExAC gnomAD
rs762098543 CA9450433	129	D>G		No	ClinGen ExAC gnomAD
rs1484200852 CA405965932	129	D>N		No	ClinGen gnomAD
rs776956478 CA9450432	131	S>I		No	ClinGen ExAC gnomAD
CA405965915 rs776956478	131	S>N		No	ClinGen ExAC gnomAD
CA308446036 rs145207226	134	L>M		No	ClinGen ESP TOPMed gnomAD
rs1599633429 CA405965896	134	L>P		No	ClinGen Ensembl
rs987711849 CA308446026	135	S>L		No	ClinGen TOPMed gnomAD
rs1405236607 CA405965881	137	A>T		No	ClinGen TOPMed
rs772038597 CA405965869	138	N>K		No	ClinGen ExAC TOPMed gnomAD
CA9450429 rs373602478	138	N>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1350822919 CA405965862	140	E>K		No	ClinGen gnomAD
rs769337972 CA9450422	141	R>L		No	ClinGen ExAC gnomAD
CA9450423 rs769337972	141	R>Q		No	ClinGen ExAC gnomAD
CA9450424 rs749111510	141	R>W		No	ClinGen ExAC TOPMed gnomAD
CA405965848 rs1398042699	142	I>T		No	ClinGen gnomAD
rs199641731 CA405965845	143	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9450420 rs199641731	143	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA405965829 rs1466579400	145	T>N		No	ClinGen gnomAD
CA405965830 rs1389825119	145	T>S		No	ClinGen TOPMed
rs758921688 CA9450419	147	C>W		No	ClinGen ExAC gnomAD
CA9450418 rs751011521	148	T>A		No	ClinGen ExAC gnomAD
CA405965809 rs145416274	148	T>I		No	ClinGen ESP TOPMed gnomAD
CA308445942 rs145416274	148	T>R		No	ClinGen ESP TOPMed gnomAD
rs1253068939 COSM996804 CA405965801 COSM996805	150	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA9450417 rs757644020	150	R>P		No	ClinGen ExAC gnomAD
rs757644020 CA9450416	150	R>Q		No	ClinGen ExAC gnomAD
rs754265164 CA9450415	151	G>R		No	ClinGen ExAC gnomAD
CA405965799 rs754265164	151	G>R		No	ClinGen ExAC gnomAD
COSM996801 rs760868849 COSM996802 CA9450413	153	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC
CA308445933 rs954952320	153	A>V		No	ClinGen Ensembl
rs376835091 CA9450412	155	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1343587357 CA405965769	156	V>F		No	ClinGen TOPMed gnomAD
CA405965750 rs1229914234	159	M>V		No	ClinGen gnomAD
CA308445929 rs913944281	161	S>G		No	ClinGen Ensembl
rs970596859 CA308445925	163	Q>R		No	ClinGen TOPMed
rs767542746 CA9450411	164	D>N		No	ClinGen ExAC TOPMed gnomAD
rs767542746 CA405965419	164	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA405965334 rs1290375809	165	N>D		No	ClinGen gnomAD
CA405965318 rs1208999455	166	S>N		No	ClinGen gnomAD
CA405965311 rs369387219	166	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
COSM148633 COSM148634 RCV000615107 CA9450383 rs55793080	167	F>L	stomach [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1051877729 CA405965254	169	S>I		No	ClinGen TOPMed gnomAD
rs1051877729 CA405965256	169	S>N		No	ClinGen TOPMed gnomAD
rs1051877729 CA308445803	169	S>T		No	ClinGen TOPMed gnomAD
rs1365949496 CA405965232	170	P>L		No	ClinGen gnomAD
CA405965190 rs1428971414	172	L>R		No	ClinGen gnomAD
rs1324640670 CA405965175	173	Q>*		No	ClinGen gnomAD
rs3865452 VAR_029995 RCV000431741 RCV000676543 CA9450380	174	H>R		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9450381 rs147603227	174	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA308445771 rs988771793	176	F>S		No	ClinGen Ensembl
rs771548569 CA9450379	178	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs866812916 CA308445755 RCV001328146	180	R>C		No	ClinGen ClinVar Ensembl dbSNP
CA9450377 rs778169057	180	R>H		No	ClinGen ExAC TOPMed gnomAD
CA405965059 rs1453601297	181	Q>R		No	ClinGen TOPMed
CA9450375 rs760103716	183	A>T		No	ClinGen ExAC TOPMed gnomAD
CA405965037 rs1205857043	184	D>N		No	ClinGen gnomAD
CA9450372 rs142234074	185	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs755262527 CA9450373	185	F>L		No	ClinGen ExAC TOPMed gnomAD
CA405965004 rs1370040242	187	P>L		No	ClinGen TOPMed gnomAD
CA9450371 rs766495150	187	P>S		No	ClinGen ExAC TOPMed gnomAD
rs758303807 CA9450370	188	R>C		No	ClinGen ExAC TOPMed gnomAD
CA308445739 rs754329107	188	R>H		No	ClinGen TOPMed gnomAD
rs1270207473 CA405964634	195	L>I		No	ClinGen TOPMed gnomAD
CA9450349 rs757282871	197	E>G		No	ClinGen ExAC gnomAD
rs753557137 CA9450348	199	L>F		No	ClinGen ExAC gnomAD
rs1384148505 CA405964523	200	G>D		No	ClinGen gnomAD
rs760372467 CA405964542	200	G>R		No	ClinGen ExAC TOPMed gnomAD
rs760372467 CA9450346	200	G>S		No	ClinGen ExAC TOPMed gnomAD
rs967969497 CA308445024	201	R>S		No	ClinGen TOPMed gnomAD
CA405964485 rs1599631780	202	D>G		No	ClinGen Ensembl
CA405964454 rs1335561296	203	W>S		No	ClinGen gnomAD
rs1022639786 CA308445022	204	Q>E		No	ClinGen TOPMed
rs752357978 CA9450345	204	Q>R		No	ClinGen ExAC gnomAD
rs376692629 CA308445021	205	A>D		No	ClinGen ExAC gnomAD
rs376692629 CA9450344	205	A>G		No	ClinGen ExAC gnomAD
CA405964381 rs1320738131	206	K>Q		No	ClinGen gnomAD
CA9450343 rs758910858	207	V>G		No	ClinGen ExAC gnomAD
rs1452584396 CA405964359	207	V>M		No	ClinGen gnomAD
CA9450342 rs562412613	211	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1250016316 CA405964127	216	A>V		No	ClinGen TOPMed
CA9450339 rs116013644	217	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1203159970 CA405964101	218	A>T		No	ClinGen gnomAD
CA9450338 rs776949662	218	A>V		No	ClinGen ExAC gnomAD
rs897201275 CA308444978	220	I>V		No	ClinGen gnomAD
rs1259382178 CA405964029	221	G>E		No	ClinGen gnomAD
CA405964005 rs1360823578	222	Q>H		No	ClinGen gnomAD
CA405963998 rs1314918851	223	V>L		No	ClinGen TOPMed gnomAD
CA405964002 rs1314918851	223	V>M		No	ClinGen TOPMed gnomAD
CA405963977 rs1425453871	224	H>Q		No	ClinGen TOPMed
CA9450335 rs772289112	230	D>E		No	ClinGen ExAC TOPMed gnomAD
rs139202966 CA9450333	231	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9450331 rs370082401	232	T>K		No	ClinGen ExAC TOPMed gnomAD
CA9450332 rs370082401	232	T>M		No	ClinGen ExAC TOPMed gnomAD
CA9450329 rs777884435	234	V>M		No	ClinGen ExAC gnomAD
CA308444922 rs146225943	236	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9450326 rs146225943 COSM418239	236	V>M	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1161537451 CA405963794	238	I>F		No	ClinGen gnomAD
CA9450300 rs375506666	241	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9450298 rs200975522	242	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9450296 rs771071497	247	I>F		No	ClinGen ExAC gnomAD
rs368884308 CA405963559	249	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9450292 rs748138781	252	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs781023923 CA9450291	253	N>K		No	ClinGen ExAC gnomAD
CA308444823 rs960923168	254	L>V		No	ClinGen gnomAD
rs1428799055 CA405963482	255	L>P		No	ClinGen gnomAD
CA9450290 rs201827222	256	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405963475 rs1174764227	256	A>T		No	ClinGen gnomAD
COSM996796 CA9450289 rs201827222 COSM996795	256	A>V	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs376667884 CA405963412	262	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs539144662 CA9450285	262	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9450284 rs376667884	262	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs113863861 CA9450280	266	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA9450279 rs766618659	266	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9450249 rs770572441	267	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1292210350 CA405962150	271	E>K		No	ClinGen TOPMed gnomAD
rs777205523 CA9450247	273	S>I		No	ClinGen ExAC TOPMed gnomAD
CA405962102 rs777205523	273	S>N		No	ClinGen ExAC TOPMed gnomAD
rs200191854 CA308442198	275	Q>*		No	ClinGen Ensembl
rs755480775 CA9450246	275	Q>H		No	ClinGen ExAC gnomAD
CA405962059 rs1357153952	275	Q>R		No	ClinGen TOPMed gnomAD
CA9450245 rs200480831	276	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200480831 CA308442191	276	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA405962018 rs1340364607	276	A>V		No	ClinGen gnomAD
rs1429082659 CA405961973	278	Q>*		No	ClinGen gnomAD
rs915773865 CA308442168	278	Q>R		No	ClinGen TOPMed
rs1347849242 CA405961863	280	E>K		No	ClinGen gnomAD
CA405961789 rs1404930396	283	W>G		No	ClinGen TOPMed gnomAD
CA405961743 rs1364194758	285	C>G		No	ClinGen gnomAD
CA405961745 rs1364194758	285	C>R		No	ClinGen gnomAD
CA405961732 rs1476259097	285	C>W		No	ClinGen TOPMed
CA405961710 rs1397118419	287	Y>C		No	ClinGen gnomAD
CA9450242 COSM3389040 COSM3389039 rs758779701	288	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA9450240 rs142018195	288	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142018195 CA9450241	288	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA405961698 rs1165849083	289	R>C		No	ClinGen TOPMed gnomAD
CA9450239 rs753935943	289	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9450238 rs753935943	289	R>P		No	ClinGen ExAC TOPMed gnomAD
rs138255798 CA405961660	291	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138255798 CA9450237	291	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA405961637 rs1473257164	293	C>R		No	ClinGen gnomAD
CA9450235 rs775239204	294	A>V		No	ClinGen ExAC gnomAD
CA405961564 rs1377783638	297	F>C		No	ClinGen TOPMed
rs1599628087 CA405960959	304	D>A		No	ClinGen Ensembl
rs1446456574 CA405960958	304	D>E		No	ClinGen gnomAD
rs1176858804 CA405960964	304	D>N		No	ClinGen TOPMed gnomAD
CA405960962 rs1176858804	304	D>Y		No	ClinGen TOPMed gnomAD
CA308440774 rs893635174	305	P>L		No	ClinGen TOPMed gnomAD
rs893635174 CA405960952	305	P>R		No	ClinGen TOPMed gnomAD
CA405960945 rs1330404989	306	F>L		No	ClinGen TOPMed
rs147037877 CA9450209	308	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9450210 rs572681951	308	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370985512 CA308440760	311	A>S		No	ClinGen ESP
CA9450207 rs776342195	312	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9450206 rs772687976	313	V>F		No	ClinGen ExAC gnomAD
rs369004265 CA9450205	315	E>K		No	ClinGen ESP ExAC gnomAD
rs1046034931 CA308440748	316	L>Q		No	ClinGen Ensembl
rs55899516 CA405960874	318	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs55899516 VAR_041421 CA9450204	318	T>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs375857990 CA308440739	319	T>I		No	ClinGen ESP
CA9450203 rs749674752	320	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA405960857 rs1433066805	322	L>Q		No	ClinGen TOPMed
rs375247053 CA9450202	323	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs756424545 COSM1393870 CA9450201 COSM1393869	324	M>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1165455994 CA405960821	328	G>R		No	ClinGen gnomAD
CA308440675 rs538660506	329	G>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA308440689 rs538660506	329	G>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA9450200 rs752758349	330	V>F		No	ClinGen ExAC gnomAD
rs1599627999 CA405960808	330	V>G		No	ClinGen Ensembl
CA9450197 rs371869971	335	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs766354722 CA9450195	336	Q>P		No	ClinGen ExAC gnomAD
CA405960712 rs1290469308	337	G>D		No	ClinGen gnomAD
CA405960681 rs1241931416	340	Q>*		No	ClinGen TOPMed gnomAD
rs1381287468 CA405960653	342	L>V		No	ClinGen gnomAD
CA9450194 rs755104992	343	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9450166 rs375860406	348	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA9450165 rs773416977	349	Q>R		No	ClinGen ExAC gnomAD
rs770154433 CA9450164	350	L>F		No	ClinGen ExAC gnomAD
CA9450163 rs370946869	352	T>A		No	ClinGen ESP ExAC gnomAD
CA405960428 rs36012476	352	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_041422 CA9450162 RCV000676539 RCV000423472 rs36012476	352	T>R		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1453743782 CA405960416	353	L>P		No	ClinGen gnomAD
rs759199445 CA405960370	356	R>P		No	ClinGen TOPMed gnomAD
CA308440451 rs759199445	356	R>Q		No	ClinGen TOPMed gnomAD
rs531989896 CA9450159	356	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1398389151 CA405960362	357	E>K		No	ClinGen gnomAD
rs750338593 CA9450156	360	E>K		No	ClinGen ExAC
rs1204219300 CA405960262	361	F>L		No	ClinGen gnomAD
CA9450155 rs146616224	362	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA308440445 rs1002049078	362	R>Q		No	ClinGen TOPMed gnomAD
rs753687112 CA9450153	364	M>R		No	ClinGen ExAC gnomAD
rs757057069 CA9450154	364	M>V		No	ClinGen ExAC TOPMed gnomAD
CA405960158 rs1179814769	366	T>I		No	ClinGen TOPMed
CA405960101 rs1455825615	368	P>S		No	ClinGen gnomAD
rs1424180100 CA405960083	369	N>S		No	ClinGen TOPMed
rs1424180100 CA405960076	369	N>T		No	ClinGen TOPMed
rs1000981334 CA308440422	370	W>S		No	ClinGen TOPMed
rs1364839291 CA405960048	371	A>V		No	ClinGen gnomAD
CA405960030 rs1568438712	372	N>K		No	ClinGen Ensembl
rs760458734 CA405959996	374	L>M		No	ClinGen ExAC gnomAD
rs770553076 CA308440376	377	A>P		No	ClinGen Ensembl
rs1304151842 CA405959901	378	S>F		No	ClinGen gnomAD
rs767092972 CA9450149	378	S>P		No	ClinGen ExAC gnomAD
rs758999160 CA9450148	379	S>T		No	ClinGen ExAC gnomAD
CA405959311 rs1599926465	382	V>M		No	ClinGen Ensembl
rs754444229 CA9450130	388	G>A		No	ClinGen ExAC TOPMed gnomAD
COSM1393868 rs754444229 COSM1393867 CA405959271	388	G>D	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA405959266 rs1415005613	389	A>V		No	ClinGen TOPMed
rs765720942 CA9450128	391	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9450129 rs149736065	391	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs776951694 CA9450126	394	G>E		No	ClinGen ExAC TOPMed gnomAD
rs762358874 CA9450127	394	G>R		No	ClinGen ExAC gnomAD
rs776951694 CA405959233	394	G>V		No	ClinGen ExAC TOPMed gnomAD
rs760973154 CA9450124	396	E>D		No	ClinGen ExAC gnomAD
CA9450123 rs772185208	397	F>I		No	ClinGen ExAC TOPMed gnomAD
rs772185208 CA9450122	397	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1303269708 CA405959197	400	H>D		No	ClinGen gnomAD
rs1303269708 CA405959198	400	H>N		No	ClinGen gnomAD
rs745951936 CA9450121	400	H>R		No	ClinGen ExAC gnomAD
CA9450118 rs770968101	403	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1442214696 CA405958580	404	V>L		No	ClinGen gnomAD
rs756641181 CA9450088	409	A>T		No	ClinGen ExAC gnomAD
rs759977816 CA405958491	410	D>E		No	ClinGen ExAC gnomAD
CA405958499 rs200743459	410	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753086752 CA9450087	410	D>N		No	ClinGen ExAC TOPMed gnomAD
CA9450086 rs200743459	410	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1410025223 CA405958488	411	G>R		No	ClinGen gnomAD
rs1006423243 CA308435723	412	D>G		No	ClinGen TOPMed
rs139582710 CA9450084	413	R>T		No	ClinGen 1000Genomes ExAC TOPMed
CA9450082 rs766723105	418	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1288968451 CA405958410	418	Q>H		No	ClinGen TOPMed
CA308435699 COSM1681048 COSM1681047 rs749251137	418	Q>P	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA9450081 rs763060391	421	R>G		No	ClinGen ExAC gnomAD
rs1256973484 CA405958393	421	R>K		No	ClinGen gnomAD
CA308435677 rs1045178900	423	L>R		No	ClinGen TOPMed
rs1209804572 CA405958360	424	K>R		No	ClinGen TOPMed gnomAD
rs1209804572 CA405958358	424	K>T		No	ClinGen TOPMed gnomAD
CA9450079 rs769747498	425	F>S		No	ClinGen ExAC gnomAD
CA9450076 rs768283625	427	T>A		No	ClinGen ExAC gnomAD
CA405958323 rs1306418495	427	T>I		No	ClinGen gnomAD
rs1454293019 CA405958319	428	G>R		No	ClinGen gnomAD
rs372011504 CA9450075	430	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs570756723 CA9450042	433	A>T		No	ClinGen ExAC TOPMed gnomAD
rs780604172 CA9450041	434	F>L		No	ClinGen ExAC TOPMed gnomAD
rs909855990 CA308435158	434	F>S		No	ClinGen TOPMed
CA405958138 rs1599921984	435	S>A		No	ClinGen Ensembl
rs1218997842 CA405958132	435	S>F		No	ClinGen gnomAD
CA405958124 rs1599921968	436	D>G		No	ClinGen Ensembl
CA9450039 rs146206425	436	D>N		No	ClinGen ESP ExAC gnomAD
rs112896502 CA9450037	437	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA308435136 rs947955414	437	A>V		No	ClinGen TOPMed gnomAD
CA405958088 rs1420846856	439	V>G		No	ClinGen TOPMed
CA9450036 rs754012618	439	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1005685405 CA308435117	440	E>D		No	ClinGen gnomAD
CA405958085 rs1402643952	440	E>K		No	ClinGen gnomAD
rs1171866679 CA405958077	440	E>V		No	ClinGen gnomAD
rs1197224740 CA405958072	441	A>T		No	ClinGen TOPMed
CA9450035 rs763929551	442	V>M		No	ClinGen ExAC TOPMed gnomAD
rs760657952 CA9450034	443	M>I		No	ClinGen ExAC gnomAD
CA405958011 rs1266074867	446	G>R		No	ClinGen gnomAD
rs1568435534 CA405958005	446	G>V		No	ClinGen Ensembl
rs1378454843 CA405957994	447	E>G		No	ClinGen gnomAD
rs1481430333 CA405957978	448	P>L		No	ClinGen gnomAD
rs142420160 CA405957964	449	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA405957957 rs1197599676	450	A>D		No	ClinGen gnomAD
rs960492727 CA308435074	450	A>T		No	ClinGen TOPMed gnomAD
CA405957953 rs1197599676	450	A>V		No	ClinGen gnomAD
rs759349841 CA9450030	451	T>I		No	ClinGen ExAC
rs1030776218 CA308435037	452	Q>*		No	ClinGen TOPMed gnomAD
CA9450027 rs770622249	453	G>S		No	ClinGen ExAC gnomAD
rs1330389000 CA405957917	453	G>V		No	ClinGen gnomAD
CA9450026 rs571966043	454	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA9450025 rs144343899 RCV000676536	455	Y>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs747478366 CA9450023	459	S>A		No	ClinGen ExAC TOPMed gnomAD
rs780726909 CA9450022	459	S>W		No	ClinGen ExAC gnomAD
rs1174623236 CA405957830	460	G>A		No	ClinGen gnomAD
CA405957824 rs1568435486	461	E>K		No	ClinGen Ensembl
CA9450020 rs56083906 VAR_041423	462	T>M		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA9450016 rs777874813	464	R>C		No	ClinGen ExAC gnomAD
rs777874813 CA9450017	464	R>S		No	ClinGen ExAC gnomAD
CA9450014 rs752584589	465	R>C		No	ClinGen ExAC TOPMed gnomAD
CA308434988 rs752584589	465	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9450013 rs375940942	465	R>H		No	ClinGen ESP ExAC gnomAD
CA9450012 rs138539655	466	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1481504168 CA405957739	468	D>G		No	ClinGen TOPMed
rs377717467 CA9450010	471	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA308434973 rs377717467	471	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA9450008 rs772770880	472	V>L		No	ClinGen ExAC TOPMed gnomAD
CA405957696 rs772770880	472	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9450004 rs371633001 COSM1712316 COSM1712317	475	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA405957670 rs776070003	475	R>W		No	ClinGen ExAC gnomAD
CA9450003 rs746200671	476	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA405957660 rs376652595	477	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9450001 rs376652595	477	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA405957629 rs1437437823	482	P>H		No	ClinGen TOPMed gnomAD
CA405957627 rs1437437823	482	P>L		No	ClinGen TOPMed gnomAD
CA405957632 rs1157467912	482	P>T		No	ClinGen TOPMed gnomAD
rs398122980 CA145473	483	E>*		No	ClinGen ExAC TOPMed gnomAD
rs752780517 CA9449998	483	E>G		No	ClinGen ExAC TOPMed gnomAD
rs398122980 CA9449999	483	E>K		No	ClinGen ExAC TOPMed gnomAD
rs755002379 CA9449996	484	E>D		No	ClinGen ExAC gnomAD
rs751280402 CA9449995	487	A>P		No	ClinGen ExAC gnomAD
rs139063940 CA9449993	489	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA9449992 rs750037594	490	R>C		No	ClinGen ExAC TOPMed gnomAD
rs534411840 CA9449991	490	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs928011750 CA308434849	491	K>R		No	ClinGen gnomAD
CA405957567 rs1245757407	493	A>T		No	ClinGen gnomAD
rs1243581377 CA405957561	494	G>R		No	ClinGen TOPMed
CA405957555 rs1340317791	495	A>T		No	ClinGen gnomAD
CA9449989 rs776334399	498	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1417263954 CA405957527	499	C>S		No	ClinGen gnomAD
rs1415301450 CA405957522	500	A>T		No	ClinGen gnomAD
CA405957513 rs1599921615	501	H>P		No	ClinGen Ensembl
CA9449986 rs774756556	501	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs953899645 CA308434831	502	L>F		No	ClinGen TOPMed gnomAD
CA308434814 COSM189434 COSM189435 rs368669658	503	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA405957504 rs771280492	503	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9449985 rs771280492	503	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA405957497 rs1478127154	504	A>V		No	ClinGen gnomAD
CA9449984 rs749631695	506	I>S		No	ClinGen ExAC gnomAD
CA405957487 rs1214336122	506	I>V		No	ClinGen gnomAD
CA9449982 rs199651767	507	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748213358 CA9449981	511	L>F		No	ClinGen ExAC TOPMed gnomAD
CA405957439 rs1452429975	513	Q>*		No	ClinGen TOPMed
rs1282795049 CA405957433	514	D>N		No	ClinGen gnomAD
rs781298279 CA9449980	515	T>S		No	ClinGen ExAC gnomAD
rs997958414 CA308434762	516	Y>*		No	ClinGen gnomAD
CA405957420 rs1278173558	516	Y>H		No	ClinGen gnomAD
CA9449977 COSM1181993 rs373391689 COSM1181994	518	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA308434734 rs977872022	519	Y>N		No	ClinGen TOPMed
rs369205319 CA9449976	520	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9449975 rs750307662	521	A>V		No	ClinGen ExAC gnomAD
rs757016684 CA9449973	522	S>G		No	ClinGen ExAC TOPMed gnomAD
rs375761845 CA9449972	523	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA308434724 rs375761845	523	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9449971 rs763624929	523	R>H		No	ClinGen ExAC gnomAD
rs760127927 CA9449970	525	P>L		No	ClinGen ExAC gnomAD
CA405957361 rs1478961735	525	P>S		No	ClinGen gnomAD
CA9449969 rs774866708	526	D>G		No	ClinGen ExAC TOPMed gnomAD
CA9449967 rs763305708	527	A>T		No	ClinGen ExAC TOPMed gnomAD
CA405957342 rs1200732748	528	A>G		No	ClinGen gnomAD
rs1257814171 CA405957334	530	A>T		No	ClinGen gnomAD
rs773250657 CA9449964	531	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1274928995 CA405957322	532	S>G		No	ClinGen gnomAD
rs1435069201 CA405957318	532	S>I		No	ClinGen gnomAD
CA405957314 rs1242707492	533	L>V		No	ClinGen TOPMed
CA405957307 rs1328829336	534	P>T		No	ClinGen gnomAD
CA405957302 rs1406647060	535	T>A		No	ClinGen gnomAD
CA405957298 rs1445629290	535	T>I		No	ClinGen TOPMed
rs1465815346 CA405957286	537	G>E		No	ClinGen gnomAD
rs1333002720 CA405957288	537	G>R		No	ClinGen gnomAD
CA308434663 rs998373887	542	D>G		No	ClinGen TOPMed gnomAD

1 associated diseases with Q96D53

[MIM: 615573]: Nephrotic syndrome 9 (NPHS9)

A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show focal segmental glomerulosclerosis. {ECO:0000269|PubMed:24270420, ECO:0000269|PubMed:25967120}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show focal segmental glomerulosclerosis. {ECO:0000269|PubMed:24270420, ECO:0000269|PubMed:25967120}. Note=The disease is caused by variants affecting the gene represented in this entry.

7 regional properties for Q96D53

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	34 - 299	IPR000719
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	111 - 124	IPR001245-1
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	151 - 169	IPR001245-2
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	217 - 239	IPR001245-3
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	263 - 285	IPR001245-4
active_site	Serine/threonine-protein kinase, active site	157 - 169	IPR008271
binding_site	Protein kinase, ATP binding site	40 - 63	IPR017441

Functions

		Description
EC Number
Subcellular Localization	Mitochondrion membrane ; Single-pass membrane protein Cytoplasm, cytosol Cell membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 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.
extrinsic component of mitochondrial inner membrane	The component of mitochondrial inner membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
kinase activity	Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
lipid binding	Binding to a lipid.

2 GO annotations of biological process

Name	Definition
cerebellar Purkinje cell layer morphogenesis	The process in which the anatomical structure of the cerebellar Purkinje cell layer is generated and organized. The Purkinje cell layer lies just underneath the molecular layer of the cerebellar cortex. It contains the neuronal cell bodies of the Purkinje cells that are arranged side by side in a single layer. Candelabrum interneurons are vertically oriented between the Purkinje cells. Purkinje neurons are inhibitory and provide the output of the cerebellar cortex through axons that project into the white matter. Extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells.
ubiquinone biosynthetic process	The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P27697	COQ8	Atypical kinase COQ8, mitochondrial	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	SS
Q29RI0	COQ8A	Atypical kinase COQ8A, mitochondrial	Bos taurus (Bovine)	SS
Q8NI60	COQ8A	Atypical kinase COQ8A, mitochondrial	Homo sapiens (Human)	EV
Q60936	Coq8a	Atypical kinase COQ8A, mitochondrial	Mus musculus (Mouse)	SS
Q566J8	Coq8b	Atypical kinase COQ8B, mitochondrial	Mus musculus (Mouse)	SS
Q5BJQ0	Coq8a	Atypical kinase COQ8A, mitochondrial	Rattus norvegicus (Rat)	SS
Q6AY19	Coq8b	Atypical kinase COQ8B, mitochondrial	Rattus norvegicus (Rat)	SS
Q18486	coq-8	Atypical kinase coq-8, mitochondrial	Caenorhabditis elegans	SS
Q9SBB2	ABC1	Protein ABC transporter 1, mitochondrial	Arabidopsis thaliana (Mouse-ear cress)	SS
Q5RGU1	coq8a	Atypical kinase COQ8A, mitochondrial	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
A3QJU3	coq8b	Atypical kinase COQ8B, mitochondrial	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MWLKVGGLLR	GTGGQLGQTV	GWPCGALGPG	PHRWGPCGGS	WAQKFYQDGP	GRGLGEEDIR
70	80	90	100	110	120
RAREARPRKT	PRPQLSDRSR	ERKVPASRIS	RLANFGGLAV	GLGLGVLAEM	AKKSMPGGRL
130	140	150	160	170	180
QSEGGSGLDS	SPFLSEANAE	RIVQTLCTVR	GAALKVGQML	SIQDNSFISP	QLQHIFERVR
190	200	210	220	230	240
QSADFMPRWQ	MLRVLEEELG	RDWQAKVASL	EEVPFAAASI	GQVHQGLLRD	GTEVAVKIQY
250	260	270	280	290	300
PGIAQSIQSD	VQNLLAVLKM	SAALPAGLFA	EQSLQALQQE	LAWECDYRRE	AACAQNFRQL
310	320	330	340	350	360
LANDPFFRVP	AVVKELCTTR	VLGMELAGGV	PLDQCQGLSQ	DLRNQICFQL	LTLCLRELFE
370	380	390	400	410	420
FRFMQTDPNW	ANFLYDASSH	QVTLLDFGAS	REFGTEFTDH	YIEVVKAAAD	GDRDCVLQKS
430	440	450	460	470	480
RDLKFLTGFE	TKAFSDAHVE	AVMILGEPFA	TQGPYDFGSG	ETARRIQDLI	PVLLRHRLCP
490	500	510	520	530	540
PPEETYALHR	KLAGAFLACA	HLRAHIACRD	LFQDTYHRYW	ASRQPDAATA	GSLPTKGDSW

VDPS