AiPD: Autoinhibited Protein Database

Q96M98

Gene name	PACRG (GLUP)
Protein name	Parkin coregulated gene protein
Names	Molecular chaperone/chaperonin-binding protein, PARK2 coregulated gene protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:135138
EC number
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

6 structures for Q96M98

Entry ID	Method	Resolution	Chain	Position	Source
6NDU	X-ray	210 A	A	70-296	PDB
6NEP	X-ray	210 A	A	70-296	PDB
6UCC	X-ray	260 A	A	1-296	PDB
7UNG	EM	360 A	YB/YC/YD/YE/YF/YG	1-296	PDB
8J07	EM	410 A	YB/YC/YD/YF/YG/YH/YI/YJ/YK/YL/YM	1-296	PDB
AF-Q96M98-F1	Predicted				AlphaFoldDB

236 variants for Q96M98

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1345372079 CA366477886	3	A>V		No	ClinGen gnomAD
CA366477892 rs1392838522	4	E>D		No	ClinGen TOPMed
CA4090616 rs760831888	4	E>G		No	ClinGen ExAC TOPMed gnomAD
CA366477890 rs760831888	4	E>V		No	ClinGen ExAC TOPMed gnomAD
rs766673660 CA4090617	6	E>G		No	ClinGen ExAC TOPMed gnomAD
rs752459560 CA4090618	7	T>N		No	ClinGen ExAC gnomAD
CA366477913 rs752459560	7	T>S		No	ClinGen ExAC gnomAD
TCGA novel	9	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4090619 rs762793328	12	K>*		No	ClinGen ExAC gnomAD
rs1179881266 CA366477952	13	C>Y		No	ClinGen TOPMed
rs763961063 CA366477961	14	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4090620 rs763961063	14	P>R		No	ClinGen ExAC TOPMed gnomAD
CA4090622 rs756750462	15	D>E		No	ClinGen ExAC gnomAD
rs1317722602 CA366477963	15	D>H		No	ClinGen gnomAD
CA366477964 rs1317722602	15	D>Y		No	ClinGen gnomAD
rs150436027 CA4090623	17	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4090624 rs749995495 COSM300619	18	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA151408364 rs961620258	21	T>N		No	ClinGen Ensembl
CA366478007 rs1209238984	21	T>S		No	ClinGen TOPMed
rs1345807172 CA366478016	22	K>N		No	ClinGen TOPMed gnomAD
rs80012280 CA4090630	26	Q>H		No	ClinGen ExAC gnomAD
rs769158760 CA4090629	26	Q>K		No	ClinGen ExAC gnomAD
CA4090634 rs367756489	28	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs367756489 CA4090633	28	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA151408374 rs903597205	30	P>L		No	ClinGen TOPMed gnomAD
CA366478064 rs1401832938	31	V>L		No	ClinGen TOPMed
rs1374418379 CA366478071	32	H>P		No	ClinGen gnomAD
rs372677454 CA4090637	32	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA366478085 rs1225672104	34	P>S	Variant assessed as Somatic; 4.668e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA366478105 rs1328591069	37	L>V		No	ClinGen gnomAD
rs751448935 CA4090639	38	V>F		No	ClinGen ExAC gnomAD
CA4090640 rs761629818	39	S>P		No	ClinGen ExAC gnomAD
CA4090641 rs767526204	41	G>V		No	ClinGen ExAC gnomAD
rs1025896383 CA151408383	42	F>C		No	ClinGen Ensembl
rs141787783 CA4090643	43	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs753549417 CA4090645	46	A>G		No	ClinGen ExAC gnomAD
rs760949631 CA151408393	47	M>I		No	ClinGen Ensembl
CA4090647 rs779444045	47	M>T		No	ClinGen ExAC TOPMed gnomAD
rs377273822 CA151408390	47	M>V		No	ClinGen ESP gnomAD
CA4090648 rs748595221	48	M>T		No	ClinGen ExAC gnomAD
rs377178341 CA4090671	53	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1213220950 CA366477558	56	P>L		No	ClinGen gnomAD
CA366477561 rs1270694853	57	P>S		No	ClinGen TOPMed
rs146271153 CA4090672	59	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1359782704 CA366477580	60	G>A		No	ClinGen gnomAD
CA366477582 rs1161808674	61	A>T		No	ClinGen gnomAD
rs1450568343 CA366477626	67	T>A		No	ClinGen gnomAD
CA366477629 rs1193209598	67	T>I		No	ClinGen gnomAD
CA4090675 rs575481178	69	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA366477649 rs1187775806	70	T>I		No	ClinGen gnomAD
rs1446172961 CA366477654	71	A>G		No	ClinGen gnomAD
rs745983141 CA4090678	72	F>S		No	ClinGen ExAC gnomAD
rs376828813 CA366477663	73	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4090680 rs376828813	73	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA366477666 rs1319040438	73	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM420989 CA366477664 rs1319040438	73	R>Q	Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine skin urinary_tract endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA366477668 rs1347534971	74	K>E		No	ClinGen gnomAD
TCGA novel	75	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4090681 rs747837216	76	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA366477683 rs1463436030	76	Y>N		No	ClinGen TOPMed
COSM1621180 rs1297436733 CA366477699	78	R>*	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs771908101 CA4090683	78	R>P		No	ClinGen ExAC TOPMed gnomAD
rs771908101 CA4090682	78	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs766468985 CA366477720	81	F>L		No	ClinGen ExAC gnomAD
CA4090684 rs760714553	81	F>L		No	ClinGen ExAC TOPMed gnomAD
rs369315812 CA151435696	83	I>V		No	ClinGen ESP TOPMed gnomAD
CA4090686 rs560873912	86	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	87	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755605037 CA151435699	88	D>V		No	ClinGen Ensembl
rs538821670 CA151435702	89	S>*		No	ClinGen TOPMed
CA151435704 rs538821670 COSM1442099	89	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs764785937 CA4090689	92	N>S		No	ClinGen ExAC gnomAD
CA366477796 rs1289045763	93	K>*		No	ClinGen TOPMed gnomAD
rs763185634 CA366477810	95	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4090692 rs763185634	95	A>T		No	ClinGen ExAC TOPMed gnomAD
CA366478255 rs1292693638	98	V>I		No	ClinGen gnomAD
CA366478295 rs1267329582	104	D>N		No	ClinGen gnomAD
CA366478307 rs1429598703	105	Y>C		No	ClinGen gnomAD
rs762433151 COSM741228 CA4090727	106	H>Y	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA151475246 rs903687958	108	Y>H		No	ClinGen gnomAD
TCGA novel	114	D>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148619883 CA4090729	114	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA366478368 rs148619883	114	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs768337874 CA4090728	114	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1292402584 CA366478377	116	L>V		No	ClinGen gnomAD
CA366478392 rs1385661043	118	E>*		No	ClinGen TOPMed gnomAD
rs762097052 CA4090730	120	T>I		No	ClinGen ExAC gnomAD
CA151475251 rs866953901	122	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs376754201 CA151475256	123	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs1562878680 CA366478443	125	F>V		No	ClinGen Ensembl
TCGA novel	126	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1364203819	127	A>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs767903540 CA366478463 COSM3948745	128	R>G	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs370616018 CA4090732	128	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs767903540 CA4090731 COSM3357975	128	R>W	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs374040289 CA4090733	130	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1219097 rs766839773 CA4090734	132	H>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs755071236 CA4090736	133	D>N		No	ClinGen ExAC gnomAD
rs1008258255 CA151475266	134	M>I		No	ClinGen TOPMed gnomAD
CA366478501 rs1382356259	134	M>V		No	ClinGen TOPMed
rs1464745047 CA366478514	136	E>Q		No	ClinGen gnomAD
rs1418744158 CA366478531	138	G>D		No	ClinGen TOPMed
CA4090738 rs752973621	138	G>S		No	ClinGen ExAC gnomAD
CA4090739 rs367612673	140	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA366478548 rs1585123111	141	K>E		No	ClinGen Ensembl
CA4090740 rs781110978	141	K>R		No	ClinGen ExAC gnomAD
CA151475272 rs959499277	142	I>T		No	ClinGen TOPMed
rs1020016527 CA151475274	145	V>A		No	ClinGen Ensembl
CA366478598 rs1387757415	149	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	149	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745697173 CA4090741	150	I>V		No	ClinGen ExAC gnomAD
CA4090742 COSM1075820 rs756074503	152	P>L	Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA151475278 rs1027166563	153	I>K		No	ClinGen Ensembl
CA366478626 rs1265428011	154	K>Q		No	ClinGen TOPMed
CA4090759 rs750215824	155	N>I		No	ClinGen ExAC gnomAD
rs1287178724 CA366478658	156	A>D		No	ClinGen TOPMed
CA4090762 COSM1442102 rs749211635	160	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs762458343 CA4090764 COSM1292242	160	R>Q	Variant assessed as Somatic; 9.251e-05 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs369094995 COSM1075821 CA4090765	162	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1192881334 CA366478694	162	R>L		No	ClinGen TOPMed gnomAD
CA366478692 rs1192881334	162	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs772907653 CA4090767	163	Q>R		No	ClinGen ExAC gnomAD
rs1041476583 CA151493298	167	V>A		No	ClinGen Ensembl
CA366478724 rs771206229	167	V>F		No	ClinGen ExAC TOPMed gnomAD
CA4090769 rs771206229	167	V>I		No	ClinGen ExAC TOPMed gnomAD
CA366478732 rs1271654623	168	T>I		No	ClinGen TOPMed
rs770463159 CA4090772	170	K>Q		No	ClinGen ExAC gnomAD
rs775706301 CA4090773	171	V>A		No	ClinGen ExAC TOPMed gnomAD
rs201656680 CA151493299	171	V>I		No	ClinGen Ensembl
CA4090774 rs763183103	172	L>P		No	ClinGen ExAC gnomAD
TCGA novel	175	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1382077073 CA366478776	176	V>I		No	ClinGen gnomAD
CA366478782 rs1206471193	177	V>M		No	ClinGen TOPMed
rs764350117 CA4090775	178	S>*		No	ClinGen ExAC gnomAD
rs760476268 CA366478797	179	A>G		No	ClinGen ExAC TOPMed gnomAD
CA4090777 rs760476268	179	A>V		No	ClinGen ExAC TOPMed gnomAD
rs766106828 CA4090778	180	E>K		No	ClinGen ExAC gnomAD
CA4090780 rs148213356	182	V>A		No	ClinGen 1000Genomes ExAC
rs1490376582 CA366478823	183	G>A		No	ClinGen gnomAD
TCGA novel	184	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4090781 rs778891928	185	A>T		No	ClinGen ExAC gnomAD
CA4090782 rs199945139	188	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1186944630 CA366478860	189	Y>F		No	ClinGen gnomAD
CA4090783 rs757917371	190	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs777419437 CA4090784 COSM1442103	191	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4090785 rs376427225	191	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	192	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4090786 rs770663362	194	L>F		No	ClinGen ExAC TOPMed gnomAD
CA4090788 rs746301135	195	P>R		No	ClinGen ExAC gnomAD
CA4090790 rs776149854	199	I>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs775584565 CA151493301	200	F>S		No	ClinGen TOPMed gnomAD
TCGA novel	201	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4090791 rs369701260	203	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA366478949 rs1431585708	203	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs768884963 CA366478965	205	G>R		No	ClinGen ExAC gnomAD
rs1266589385 CA366479050	205	G>V		No	ClinGen gnomAD
CA4090792 rs768884963	205	G>W		No	ClinGen ExAC gnomAD
rs1449119598 CA821899529	207	Y>*		No	ClinGen TOPMed
CA151542039 rs565215413	207	Y>*		No	ClinGen 1000Genomes TOPMed gnomAD
CA4090862 rs760321438	207	Y>H		No	ClinGen ExAC gnomAD
CA151542041 rs531045125	208	S>F		No	ClinGen 1000Genomes
rs1272964165 CA366479081	210	P>L		No	ClinGen gnomAD
rs1216523552 CA366479083	211	R>G		No	ClinGen TOPMed
CA366479129 rs1259173490	217	A>G		No	ClinGen TOPMed gnomAD
rs559911516 CA4090863	217	A>T		No	ClinGen ExAC TOPMed gnomAD
CA366479128 rs1259173490	217	A>V		No	ClinGen TOPMed gnomAD
CA151542050 rs1010672087	218	I>F		No	ClinGen TOPMed
CA151542052 rs527237073	219	M>I		No	ClinGen Ensembl
CA151542054 rs376142356	221	R>C		No	ClinGen TOPMed gnomAD
rs753545374 CA366479152	221	R>H		No	ClinGen ExAC TOPMed gnomAD
rs753545374 CA151542057	221	R>L		No	ClinGen ExAC TOPMed gnomAD
rs753545374 CA4090864	221	R>P		No	ClinGen ExAC TOPMed gnomAD
CA366479153 rs1459817808	222	C>S		No	ClinGen gnomAD
CA366479156 rs1441650952	222	C>Y		No	ClinGen gnomAD
rs1585422398 CA366479164	223	N>T		No	ClinGen Ensembl
rs1161865267 CA366479171	224	L>V		No	ClinGen gnomAD
CA366479176 rs1389146740	225	D>N		No	ClinGen TOPMed gnomAD
CA366479177 rs1389146740	225	D>Y		No	ClinGen TOPMed gnomAD
CA366479188 rs1290906958	226	H>R		No	ClinGen TOPMed gnomAD
rs1458572854 CA366479185	226	H>Y		No	ClinGen gnomAD
CA366479195 rs1381790336	227	L>P		No	ClinGen gnomAD
CA366479203 rs1187932961	229	S>P		No	ClinGen TOPMed
rs1232007152 CA366479210	230	S>N		No	ClinGen gnomAD
rs924636515 CA151542062	230	S>R		No	ClinGen TOPMed gnomAD
rs933322765 CA151542064	231	D>G		No	ClinGen Ensembl
CA4090867 rs140329577	232	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366479231 rs1330275163	233	P>L		No	ClinGen gnomAD
CA151542066 rs910642739	233	P>T		No	ClinGen Ensembl
CA366479232 rs1585422466	234	T>P		No	ClinGen Ensembl
rs1585422471 CA366479240	235	S>A		No	ClinGen Ensembl
CA366479247 rs1258656541	236	A>D		No	ClinGen TOPMed gnomAD
CA366479248 rs1258656541	236	A>G		No	ClinGen TOPMed gnomAD
CA151542069 rs150346669	238	Q>R		No	ClinGen 1000Genomes
rs1486321992 CA366479263	239	V>I		No	ClinGen TOPMed
rs1283065343 CA366479274	240	A>V		No	ClinGen TOPMed
CA151542071 rs963407716	241	E>Q		No	ClinGen TOPMed gnomAD
rs1259009995 CA366479295	243	I>M		No	ClinGen gnomAD
CA366479329 rs1181798892	247	G>R		No	ClinGen TOPMed
rs143276239 CA4090885	249	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed
CA4090887 rs201500564	250	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4090886 rs764841230	250	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4090888 rs763318008	252	Y>H		No	ClinGen ExAC gnomAD
rs1222285991 CA366479400	257	R>G		No	ClinGen TOPMed
TCGA novel	258	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4090893 rs147721579	260	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1448338298 CA366479443	263	L>M		No	ClinGen gnomAD
rs1562375576 CA366479447	263	L>W		No	ClinGen Ensembl
CA4090896 rs747920107	269	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4090897 rs758273409	270	A>D		No	ClinGen ExAC gnomAD
rs1308681508 CA366479493	270	A>S		No	ClinGen gnomAD
rs144946879 CA4090899	272	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA4090900 rs144946879	272	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs34421506 CA4090901	273	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199844557 COSM1075822 CA4090902	273	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs199844557 CA366479512	273	R>L		No	ClinGen ExAC TOPMed gnomAD
rs34421506 CA366479510	273	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1452818929 CA366479518	274	Y>C		No	ClinGen gnomAD
CA366479522 CA4090904 rs775007947	275	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1354432234 CA366479538	277	E>V		No	ClinGen gnomAD
CA4090906 rs763261119	281	I>L		No	ClinGen ExAC TOPMed gnomAD
rs764460310 CA4090907	282	N>S		No	ClinGen ExAC gnomAD
rs774745793 CA4090908	283	I>S		No	ClinGen ExAC gnomAD
CA366479577 rs1380920856	283	I>V		No	ClinGen TOPMed
CA366479588 rs1439715490	284	K>N		No	ClinGen gnomAD
rs1585424653 CA366479595	285	Y>F		No	ClinGen Ensembl
rs543247575 CA4090910	286	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1212278700 COSM1545368 CA366479604	287	V>F	lung Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs965666070 CA151542535	289	T>N		No	ClinGen Ensembl
CA4090913 rs368279846 CA366479626	290	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs758218465 CA4090917 CA4090916	291	E>D		No	ClinGen ExAC gnomAD
rs372089123 CA4090914	291	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4090915 rs372089123	291	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366479643 rs746844867	293	C>*		No	ClinGen ExAC TOPMed gnomAD
rs1287467448 CA366479641	293	C>F		No	ClinGen TOPMed
rs1488334811 CA366479638	293	C>R		No	ClinGen TOPMed
CA4090918 rs746844867	293	C>W		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q96M98

No regional properties for Q96M98

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q96M98

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton, cilium axoneme
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
axonemal microtubule	A microtubule in the axoneme of a eukaryotic cilium or flagellum; an axoneme contains nine modified doublet microtubules, which may or may not surround a pair of single microtubules.
cell body	The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
manchette	A tubular array of microtubules that extends from the perinuclear ring surrounding the spermatid nucleus to the flagellar axoneme. The manchette may also contain F-actin filaments.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
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.
sperm midpiece	The highly organized segment of the sperm flagellum which begins at the connecting piece and is characterized by the presence of 9 outer dense fibers (ODFs) that lie outside each of the 9 outer axonemal microtubule doublets and by a sheath of mitochondria that encloses the ODFs and the axoneme; the midpiece terminates about one-fourth of the way down the sperm flagellum at the annulus, which marks the beginning of the principal piece.
vesicle	Any small, fluid-filled, spherical organelle enclosed by membrane.

9 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
alpha-tubulin binding	Binding to the microtubule constituent protein alpha-tubulin.
beta-tubulin binding	Binding to the microtubule constituent protein beta-tubulin.
chaperone binding	Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport.
G protein-coupled receptor binding	Binding to a G protein-coupled receptor.
heat shock protein binding	Binding to a heat shock protein, a protein synthesized or activated in response to heat shock.
Hsp70 protein binding	Binding to a Hsp70 protein, heat shock proteins around 70kDa in size.
Hsp90 protein binding	Binding to Hsp90 proteins, any of a group of heat shock proteins around 90kDa in size.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.

4 GO annotations of biological process

Name	Definition
cellular response to unfolded protein	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an unfolded protein stimulus.
negative regulation of cell death	Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death.
protein localization	Any process in which a protein is transported to, or maintained in, a specific location.
spermatid development	The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MVAEKETLSL	NKCPDKMPKR	TKLLAQQPLP	VHQPHSLVSE	GFTVKAMMKN	SVVRGPPAAG
70	80	90	100	110	120
AFKERPTKPT	AFRKFYERGD	FPIALEHDSK	GNKIAWKVEI	EKLDYHHYLP	LFFDGLCEMT
130	140	150	160	170	180
FPYEFFARQG	IHDMLEHGGN	KILPVLPQLI	IPIKNALNLR	NRQVICVTLK	VLQHLVVSAE
190	200	210	220	230	240
MVGKALVPYY	RQILPVLNIF	KNMNGSYSLP	RLECSGAIMA	RCNLDHLGSS	DPPTSASQVA
250	260	270	280	290
EIIVNSGDGI	DYSQQKRENI	GDLIQETLEA	FERYGGENAF	INIKYVVPTY	ESCLLN