AiPD: Autoinhibited Protein Database

Q96M95

Gene name	CCDC42
Protein name	Coiled-coil domain-containing protein 42
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:146849
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

21-243 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

21-243 (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 Q96M95

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96M95-F1	Predicted				AlphaFoldDB

289 variants for Q96M95

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1307883881 CA398052642	6	M>V		No	ClinGen TOPMed
CA398052634 rs1168448825	7	E>Q		No	ClinGen gnomAD
CA398052603 rs1464829541	10	D>E		No	ClinGen TOPMed gnomAD
rs1393698140 CA398052600	11	L>P		No	ClinGen TOPMed
CA8378579 rs748455640	13	E>K		No	ClinGen ExAC TOPMed gnomAD
rs748455640 CA398052591	13	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA398052569 rs1190234299	15	F>L		No	ClinGen gnomAD
CA8378576 rs201999758	16	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8378575 rs201999758	16	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs7221644 CA8378578	16	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA398052566 rs1434542911	17	L>M		No	ClinGen gnomAD
CA398052554 rs1295148362	18	Q>H		No	ClinGen gnomAD
CA8378573 rs750526989	19	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA398052540 rs1295214866	21	E>K		No	ClinGen Ensembl
CA8378572 rs148247867	22	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM180097 rs866068531 CA287615098	22	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA398052525 rs1187381478	23	L>R		No	ClinGen gnomAD
rs752481753 CA8378570	24	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA287615083 rs752481753	24	L>R		No	ClinGen ExAC TOPMed gnomAD
rs757477477 CA8378571	24	L>V		No	ClinGen ExAC gnomAD
rs902120914 CA287615081	26	M>I		No	ClinGen TOPMed
rs1193379148 CA398052506	27	L>I		No	ClinGen TOPMed gnomAD
rs1256648680 CA398052497	28	Q>P		No	ClinGen gnomAD
CA8378550 rs754677404	31	P>L		No	ClinGen ExAC gnomAD
rs1483050447 CA398052451	33	V>D		No	ClinGen TOPMed
CA8378548 rs766350151	34	E>D		No	ClinGen ExAC
rs751398676 CA8378549	34	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA398052439 rs1567537110	35	G>E		No	ClinGen Ensembl
rs1567537108 CA398052434	36	A>S		No	ClinGen Ensembl
CA8378546 rs143164438 COSM1387680	36	A>V	large_intestine Variant assessed as Somatic; 9.246e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs536001412 COSM176402 CA8378543	37	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs371866861 CA8378544	37	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA398052389 rs1366291700	43	W>*		No	ClinGen TOPMed
CA287614708 rs927090492	46	E>Q		No	ClinGen Ensembl
CA398052367 rs1193888137	47	K>E		No	ClinGen gnomAD
CA287614707 rs1037335638	47	K>N		No	ClinGen TOPMed
rs746434944 CA8378537	50	E>D		No	ClinGen ExAC TOPMed gnomAD
CA398052340 rs1236758818	50	E>G		No	ClinGen gnomAD
rs1460879364 CA398052335	51	T>I		No	ClinGen gnomAD
CA287614697 rs12952995 VAR_057786	51	T>P		No	ClinGen UniProt dbSNP gnomAD
CA398052337 rs12952995	51	T>S		No	ClinGen gnomAD
rs774414796 CA8378536	52	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA8378535 rs770960822	53	I>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1299782420 CA398052324	53	I>T		No	ClinGen TOPMed
CA398052319 rs199596936	54	M>L		No	ClinGen 1000Genomes gnomAD
CA8378534 rs749404228	54	M>T		No	ClinGen ExAC TOPMed gnomAD
CA287614641 rs199596936	54	M>V		No	ClinGen 1000Genomes gnomAD
rs777814153 CA8378533	58	M>V		No	ClinGen ExAC TOPMed gnomAD
CA398052265 rs1357466227	61	K>M		No	ClinGen TOPMed
rs756361271 CA8378532	61	K>Q		No	ClinGen ExAC TOPMed
rs748445573 CA8378513	64	M>T		No	ClinGen ExAC gnomAD
CA398052210 COSM986355 rs956275224	67	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
CA287614242 rs956275224	67	R>G		No	ClinGen TOPMed
rs373585013 CA8378512	67	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs956275224 CA398052211	67	R>S		No	ClinGen TOPMed
rs1363337671 CA398052207	68	R>G		No	ClinGen TOPMed
CA8378510 rs778954682	69	M>K		No	ClinGen ExAC gnomAD
CA8378509 rs778954682	69	M>T		No	ClinGen ExAC gnomAD
rs1383680042 CA398052200	69	M>V		No	ClinGen gnomAD
rs757225392 CA8378508	71	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8378507 rs753231339	72	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1453289502 CA398052170	73	N>K		No	ClinGen TOPMed gnomAD
VAR_057787 CA8378504 rs9893451	75	R>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA287614213 rs1044515346 COSM1387679	75	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA8378505 rs9893451	75	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA398052160 rs1406144289	76	W>G		No	ClinGen TOPMed
CA8378503 rs370443896	77	E>*		No	ClinGen ESP ExAC gnomAD
CA8378502 rs759850510	78	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8378500 rs766736453	79	L>V		No	ClinGen ExAC gnomAD
CA398052128 rs1160880851	80	G>D		No	ClinGen TOPMed gnomAD
TCGA novel	80	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA398052126 rs145016058	81	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8378497 rs145016058	81	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8378496 rs762104488	82	K>E		No	ClinGen ExAC gnomAD
rs776944531 CA8378495	82	K>R		No	ClinGen ExAC TOPMed gnomAD
rs769030263 CA8378494	83	E>D		No	ClinGen ExAC gnomAD
TCGA novel	84	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201179491 CA8378492	85	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA398052063 rs1180638637	90	I>M		No	ClinGen gnomAD
TCGA novel	91	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA398052042 rs1484248664	93	S>C		No	ClinGen gnomAD
rs375603371 CA287614127	94	E>K		No	ClinGen ESP TOPMed
rs980758717 CA287614126	95	Q>K		No	ClinGen TOPMed
rs770762981 CA8378491	98	Q>R		No	ClinGen ExAC gnomAD
rs150697100 CA398051622	100	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374455661 CA8378457	101	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8378456 rs762738568	101	D>V		No	ClinGen ExAC gnomAD
TCGA novel	102	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772893503 CA8378455	102	Q>E		No	ClinGen ExAC
TCGA novel	102	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs188205076 CA287612684	104	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8378453 rs188205076	104	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146567497 CA8378454	104	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776086783 CA8378452	106	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs942378045 CA287612670 COSM1387678	106	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA398051540 rs746523334	107	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8378450 rs746523334	107	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA398051530 rs1193116470	108	M>V		No	ClinGen gnomAD
CA287612667 rs935127412	111	A>D		No	ClinGen TOPMed gnomAD
CA8378449 rs779717063	112	N>H		No	ClinGen ExAC TOPMed gnomAD
CA8378448 rs144318969	112	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8378447 rs376021772	113	K>R		No	ClinGen ESP ExAC gnomAD
CA8378446 rs779478994	114	E>G		No	ClinGen ExAC gnomAD
rs538010989 CA8378444 COSM3388337	115	R>*	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA287612642 rs538010989	115	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369756851 CA287612628	115	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369756851 COSM3524022 CA8378443	115	R>Q	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA398051423 rs1166707448	116	E>K		No	ClinGen gnomAD
CA398051404 rs1424880531	117	L>F		No	ClinGen gnomAD
rs752755213 CA8378442	120	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs74866427 CA8378440	120	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752755213 CA8378441	120	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1205961919 CA398051360	120	Q>R		No	ClinGen TOPMed gnomAD
rs750226012 CA8378438	121	H>R		No	ClinGen ExAC TOPMed gnomAD
CA8378439 rs759730968	121	H>Y		No	ClinGen ExAC gnomAD
rs765054090 CA8378437	122	M>R		No	ClinGen ExAC gnomAD
CA398051339 rs1485848137	122	M>V		No	ClinGen TOPMed gnomAD
CA8378436 rs758186993	124	E>K		No	ClinGen ExAC gnomAD
CA8378433 rs760165480	127	K>N		No	ClinGen ExAC gnomAD
CA8378432 rs141988546	128	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8378431 rs142451736	128	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs142451736 CA398051247	128	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745575727 CA8378430	129	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1359843449 CA398051226	130	Q>*		No	ClinGen gnomAD
TCGA novel	130	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	131	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771474988 CA8378428	131	E>G		No	ClinGen ExAC gnomAD
CA8378427 rs200883204	133	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA287612548 rs374917652	134	A>T		No	ClinGen ESP TOPMed gnomAD
rs1373117039 CA398051162	134	A>V		No	ClinGen TOPMed gnomAD
rs1052922688 CA287612545	135	L>P		No	ClinGen TOPMed gnomAD
rs752804768 CA8378424	135	L>V		No	ClinGen ExAC gnomAD
rs751825876 CA8378421	136	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8378422 rs148149350	136	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA287612536 rs995729240	137	L>P		No	ClinGen TOPMed gnomAD
CA398051136 rs995729240	137	L>R		No	ClinGen TOPMed gnomAD
rs766609337 CA8378420	138	E>*		No	ClinGen ExAC TOPMed gnomAD
rs761555104 CA8378419	138	E>G		No	ClinGen ExAC gnomAD
CA398051120 rs1597346523	139	H>D		No	ClinGen Ensembl
CA398051118 rs1597346520	139	H>P		No	ClinGen Ensembl
rs1597346516 CA398051113	139	H>Q		No	ClinGen Ensembl
rs760587890 COSM1283967 CA8378416	141	R>Q	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs201922348 CA8378417	141	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	143	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs2288156 CA398051055	144	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8378414 rs2288156 VAR_026282	144	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA287612508 rs890813079	149	Y>C		No	ClinGen Ensembl
CA8378411 rs770741578	151	I>L		No	ClinGen ExAC gnomAD
rs770741578 CA8378412	151	I>V		No	ClinGen ExAC gnomAD
CA398050903 rs749601477	154	K>N		No	ClinGen ExAC gnomAD
rs778335502 CA8378409	155	Y>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	157	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770326047 CA8378408	157	E>G		No	ClinGen ExAC TOPMed gnomAD
CA398050803 rs781307777	161	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	163	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780183443 CA8378403	164	E>D		No	ClinGen ExAC gnomAD
rs1428990214 CA398050760	164	E>G		No	ClinGen TOPMed gnomAD
rs747121502 CA8378404	164	E>K		No	ClinGen ExAC TOPMed gnomAD
rs752538761	165	F>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs767314074 CA8378379	166	E>K		No	ClinGen ExAC TOPMed gnomAD
rs757353433 CA287608183	167	E>A		No	ClinGen Ensembl
rs1331210917 CA398050222	169	H>Q		No	ClinGen gnomAD
CA398050227 rs1233408094	169	H>R		No	ClinGen TOPMed
rs1597344505 CA398050192	171	V>G		No	ClinGen Ensembl
CA8378378 rs754983758	172	I>M		No	ClinGen ExAC gnomAD
rs1259958238 CA398050182	172	I>T		No	ClinGen gnomAD
rs1341946783 CA398050176	173	A>T		No	ClinGen gnomAD
COSM1737042 rs766057119 CA8378376	174	R>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs139469533 CA8378375	174	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA287608142 rs1006624837	177	T>M		No	ClinGen TOPMed gnomAD
rs762044749 CA8378372	178	L>P		No	ClinGen ExAC gnomAD
CA8378370 rs777077616	180	S>N		No	ClinGen ExAC gnomAD
CA398050069 rs1164115323	181	M>T		No	ClinGen TOPMed
CA8378369 rs375583938	182	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs371328672 CA8378368	182	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs149274270 CA8378366	184	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149274270 CA398050029	184	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138584468 CA8378365	186	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1447472102 CA398050002	186	M>L		No	ClinGen gnomAD
rs138584468 CA398049999	186	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA398049962 rs1597344476	188	S>F		No	ClinGen Ensembl
rs778933103 CA8378364	189	A>T		No	ClinGen ExAC gnomAD
rs1448085997 CA398049951	189	A>V		No	ClinGen TOPMed
CA398049944 rs1292134903	190	Q>*		No	ClinGen gnomAD
CA8378362 rs150575602	191	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781085439 CA8378361	196	I>T		No	ClinGen ExAC TOPMed gnomAD
rs764030052 CA398049847	197	E>G		No	ClinGen gnomAD
rs764030052 CA287608091	197	E>V		No	ClinGen gnomAD
CA8378359 rs752677099	198	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8378358 rs138157856 COSM1661030	198	R>H	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8378355 rs141192837	199	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs141192837 CA8378356	199	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs375234897 CA8378353	200	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA398049787 rs1424867213	201	A>V		No	ClinGen TOPMed
CA8378349 rs370804265	202	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145668973 CA8378350	202	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA398049776 rs1190929092	203	L>M		No	ClinGen gnomAD
rs772570264 CA8378348	203	L>P		No	ClinGen ExAC gnomAD
COSM1387677 CA287608018 rs1008726041	204	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs149912256 CA8378346	205	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA398049751 rs1274523464	205	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs566514810 CA8378345	206	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs566514810 CA287608017	206	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8378344 rs371274592	207	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8378343 rs781125276	208	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA398049689 rs1347827804	209	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	209	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	211	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA398049657 rs1344708524	211	D>V		No	ClinGen TOPMed
CA287608002 rs918815968	212	D>G		No	ClinGen TOPMed
TCGA novel	213	E>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	215	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1348298616 CA398049591	216	Q>E		No	ClinGen gnomAD
CA398049531 rs1410669413	219	N>K		No	ClinGen gnomAD
rs974310068 CA287607993	221	L>R		No	ClinGen TOPMed
CA398049494 rs1568051116	222	A>G		No	ClinGen Ensembl
CA398049493 rs1568051116	222	A>V		No	ClinGen Ensembl
rs780101445 CA8378339	223	R>S		No	ClinGen ExAC TOPMed gnomAD
CA398049426 rs1166135536	227	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8378338 rs557440923	227	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs557440923 CA398049423	227	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8378336 rs778525153	230	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs756855861 CA8378335	230	R>H		No	ClinGen ExAC TOPMed gnomAD
CA398049386 rs778525153	230	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1568051092 CA398049372	231	A>D		No	ClinGen Ensembl
CA398049361 rs1234324170	232	R>C		No	ClinGen TOPMed gnomAD
rs571535127 CA8378333	232	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs939496600 CA287607936	235	V>A		No	ClinGen TOPMed gnomAD
rs368917591 CA287607939	235	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8378331 rs368917591	235	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs753089209 CA8378330	237	F>S		No	ClinGen ExAC gnomAD
CA398049280 rs1284341571	238	W>R		No	ClinGen gnomAD
CA398049193 rs1399767743	239	E>Q		No	ClinGen gnomAD
CA398049186 rs1378028896	239	E>V		No	ClinGen gnomAD
CA398049162 COSM3403408 rs750192818	241	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs750192818 CA287607789	241	R>L		No	ClinGen gnomAD
CA8378292 rs376369221 COSM180093	243	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs770803690 CA8378290	244	H>L		No	ClinGen ExAC gnomAD
CA287607767 rs974280484	246	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	247	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA398049069 rs1597344284	248	T>P		No	ClinGen Ensembl
rs780725519 CA8378285	251	K>*		No	ClinGen ExAC TOPMed gnomAD
CA8378284 rs544087706	251	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs943367770 CA287607755	251	K>R		No	ClinGen TOPMed gnomAD
rs1315164362 CA398048969	256	L>P		No	ClinGen TOPMed
CA8378283 rs751904640	260	K>E		No	ClinGen ExAC gnomAD
rs766861932 CA8378282	262	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1597344258 CA398048888	262	A>V		No	ClinGen Ensembl
rs141089641 COSM3403407 CA8378281	263	T>M	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs147736220 COSM473597 CA8378279	268	Q>H	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA398048793 rs1424864420	270	V>L		No	ClinGen TOPMed gnomAD
rs1424864420 CA398048791	270	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs764224677 CA8378276	273	H>Q		No	ClinGen ExAC gnomAD
rs776936023 CA8378277	273	H>R		No	ClinGen ExAC gnomAD
CA287607727 rs968990797	273	H>Y		No	ClinGen TOPMed gnomAD
rs759334299 CA8378275	275	K>T		No	ClinGen ExAC gnomAD
CA398048704 rs1568050879	276	E>G		No	ClinGen Ensembl
CA287607680 rs955231926	278	T>I		No	ClinGen Ensembl
TCGA novel	279	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	279	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1187604896 CA398048650	280	V>L		No	ClinGen gnomAD
rs1187604896 CA398048654	280	V>M		No	ClinGen gnomAD
rs770877569 CA8378273	282	L>P		No	ClinGen ExAC gnomAD
rs1029383635 CA398048608 CA287607673	283	E>D		No	ClinGen TOPMed
CA8378272 rs762914315	285	T>N		No	ClinGen ExAC gnomAD
CA8378270 rs555423216	286	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1013272912 CA287607655	288	Q>*		No	ClinGen TOPMed
TCGA novel	288	Q>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1219380917 CA398048529	288	Q>L		No	ClinGen gnomAD
rs776202148 CA8378233	294	Q>R		No	ClinGen ExAC
rs182957223 CA8378230	299	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8378229 rs182957223	299	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8378231 rs760247325	299	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8378228 rs565250684	300	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8378227 rs565250684	300	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8378224 rs148549870	303	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8378223 rs756084361	304	A>V		No	ClinGen ExAC gnomAD
rs1276488736 CA398046973	305	E>D		No	ClinGen TOPMed gnomAD
CA398046968 rs1244960513	306	V>A		No	ClinGen gnomAD
CA8378222 rs748294744	306	V>M		No	ClinGen ExAC gnomAD
TCGA novel	307	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	308	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1204201530 CA398046933	311	Q>E		No	ClinGen gnomAD
CA8378221 rs781345210	311	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs755246078 CA8378220	312	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA398046920 rs1285551885	313	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8378218 rs139413657	313	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3422038 rs765084810 CA8378217	315	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA398046905 rs1384348358	316	I>V		No	ClinGen gnomAD

No associated diseases with Q96M95

5 regional properties for Q96M95

Type	Name	Position	InterPro Accession
domain	TolB, N-terminal	23 - 121	IPR007195
repeat	WD40-like beta propeller	203 - 223	IPR011659-1
repeat	WD40-like beta propeller	237 - 272	IPR011659-2
repeat	WD40-like beta propeller	281 - 315	IPR011659-3
repeat	WD40-like beta propeller	369 - 396	IPR011659-4

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, perinuclear region Cytoplasm, cytoskeleton Cell projection, cilium, flagellum Cytoplasm, cytoskeleton, microtubule organizing center, centrosome	Weakly expressed in the cytoplasm of round spermatids In elongating spermatids, localizes to the manchette microtubules and the perinuclear ring In the sperm flagellum, strongly expressed in the principle piece and also located to the connecting piece and weakly to the midpiece Localizes to the centrosome in somatic cells
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
spermatid development	The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A6QQM8	CCDC42	Coiled-coil domain-containing protein 42	Bos taurus (Bovine)	PR
Q5SV66	Ccdc42	Coiled-coil domain-containing protein 42	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MSLGIMEEED	LAEYFRLQYG	ERLLQMLQKL	PNVEGASESP	SIWLLEKKKE	TEIMHQTMVQ
70	80	90	100	110	120
KKKMFQRRME	TLNLRWEELG	VKEAQLKAHI	QKSEQFIQEN	DQKRIRAMKK	ANKERELKCQ
130	140	150	160	170	180
HMQELTKRKQ	EMVALRLEHQ	RLSAKLKDYY	IFNKYLEKVV	ENSEFEEIHE	VIARYKTLVS
190	200	210	220	230	240
MRHDLMQSAQ	EGQEKIERAK	ARLARYMEEK	DDEILQQNNE	LARLQMRFDR	ARSNVIFWES
250	260	270	280	290	300
RWAHIQNTAA	KKTLLLGTIK	MATLNLFQIV	SKHLKEVTEV	ALEDTHKQLD	MIQQFIQDRS
310
DIWAEVKKKE	QQRVRI