AiPD: Autoinhibited Protein Database

Q8ND07

Gene name	BBOF1
Protein name	Basal body-orientation factor 1
Names	Coiled-coil domain-containing protein 176
Species	Homo sapiens (Human)
KEGG Pathway	hsa:80127
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-326 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-326 (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 Q8ND07

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8ND07-F1	Predicted				AlphaFoldDB

398 variants for Q8ND07

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA390365058 rs866169416	2	P>A		No	ClinGen gnomAD
CA7265096 rs748873062	2	P>L		No	ClinGen ExAC TOPMed gnomAD
rs748873062 CA263564959	2	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA263564955 rs866169416	2	P>S		No	ClinGen gnomAD
CA7265097 rs768030109	3	S>W		No	ClinGen ExAC gnomAD
rs1431938416 CA390365855	5	G>R		No	ClinGen gnomAD
CA263564970 rs879931110 CA263564983	6	K>N		No	ClinGen TOPMed gnomAD
rs747751552 CA7265099	7	D>G		No	ClinGen ExAC TOPMed gnomAD
CA7265098 rs778686583	7	D>N		No	ClinGen ExAC gnomAD
rs1411866266 CA390365874	8	K>E		No	ClinGen gnomAD
TCGA novel	9	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1349354109 CA390365883	9	K>T		No	ClinGen gnomAD
rs773004393 CA7265102	11	G>D		No	ClinGen ExAC TOPMed gnomAD
CA7265101 rs771689296	11	G>S		No	ClinGen ExAC gnomAD
rs537764280 CA7265103	13	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537764280 CA390365911	13	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	15	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7265105 rs776517732	15	G>D		No	ClinGen ExAC TOPMed gnomAD
rs376025173 CA7265104	15	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7265106 rs759708180	17	D>V		No	ClinGen ExAC gnomAD
CA390365943 rs368068420	18	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA390365946 rs1450493954	18	T>M		No	ClinGen gnomAD
CA7265107 rs368068420	18	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7265117 rs778291494	20	K>R		No	ClinGen ExAC
CA390365983 rs1454236188	22	I>V		No	ClinGen TOPMed
TCGA novel	24	T>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375117077 CA7265120	25	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	28	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7265123 rs770686827	30	D>E		No	ClinGen ExAC TOPMed gnomAD
CA390366052 rs1385915293	31	R>K		No	ClinGen gnomAD
rs1275774841 CA390366093	33	K>N		No	ClinGen gnomAD
rs776684714 CA7265124	35	N>S		No	ClinGen ExAC gnomAD
CA390366153 rs1308447148	37	S>F		No	ClinGen gnomAD
rs1382511508 CA390366146	37	S>P		No	ClinGen gnomAD
rs769703360 CA7265126	38	L>V		No	ClinGen ExAC gnomAD
rs775458187 CA390366175	39	W>*		No	ClinGen ExAC TOPMed gnomAD
CA7265128 rs763051654	39	W>C		No	ClinGen ExAC TOPMed gnomAD
CA7265127 rs775458187	39	W>L		No	ClinGen ExAC TOPMed gnomAD
rs750577458 CA7265129	41	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7265130 rs774696092	42	R>G		No	ClinGen ExAC gnomAD
CA7265131 rs369682970	42	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7265132 rs79860442	45	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs879020715 CA263566617	46	T>P		No	ClinGen Ensembl
rs756594620 CA7265134	50	R>T		No	ClinGen ExAC gnomAD
rs1595001577 CA390366360	51	I>V		No	ClinGen Ensembl
rs1247439569 CA390366400	53	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7265135 rs766859646	54	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7265136 rs766859646	54	R>G		No	ClinGen ExAC TOPMed gnomAD
rs757872366 CA7265137	54	R>H		No	ClinGen ExAC TOPMed gnomAD
CA390366439 rs1566787932	55	D>Y		No	ClinGen Ensembl
CA390366465 rs1190398873	56	T>A		No	ClinGen gnomAD
rs3784039 CA390366497	58	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs3784039 VAR_059618 CA7265139	58	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs777449881 CA7265138	58	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7265141 rs780851764	60	L>V		No	ClinGen ExAC gnomAD
rs1471115525 CA390366565	62	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1158969483 CA390366632	65	E>K		No	ClinGen gnomAD
rs200640726 CA263566633	66	D>N		No	ClinGen Ensembl
CA7265142 rs61752569	68	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390366776 rs769653476	70	K>N		No	ClinGen ExAC TOPMed gnomAD
rs902342477 CA263566641	72	C>F		No	ClinGen TOPMed gnomAD
CA7265144 rs61751904	74	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7265145 rs749431748	74	M>T		No	ClinGen ExAC gnomAD
rs768844123 CA7265146	75	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA263566653 rs200673247	76	K>R		No	ClinGen TOPMed
CA7265148 rs781620200	78	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7265149 rs762132971	81	V>A		No	ClinGen ExAC gnomAD
rs190718961 CA7265151	83	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs928847949 CA263566659	83	S>R		No	ClinGen gnomAD
CA263566662 rs369813084	84	Y>S		No	ClinGen Ensembl
rs182496407 CA7265152	85	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	86	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7265153 rs761058891	88	Q>*		No	ClinGen ExAC gnomAD
CA390367248 rs1299595964	90	Q>*		No	ClinGen TOPMed gnomAD
rs1252717521 CA390367252	90	Q>R		No	ClinGen gnomAD
CA7265156 rs370595339	95	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs554570438 CA7265155	95	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA263569176 rs1022697188	96	I>T		No	ClinGen TOPMed
rs866244544 CA263569179	102	Q>K		No	ClinGen Ensembl
rs1477616687 CA390369727	104	N>D		No	ClinGen TOPMed gnomAD
COSM553764 CA7265164 rs749234701	106	T>A	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA390369801 rs749234701	106	T>S		No	ClinGen ExAC TOPMed gnomAD
rs202047949 CA7265165	107	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7265166 rs779148940	108	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7265167 rs748191810	110	A>T		No	ClinGen ExAC TOPMed gnomAD
rs370995248 CA7265168	111	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA263569194 rs201889770	113	E>V		No	ClinGen Ensembl
rs1595020731 CA390370037	114	K>Q		No	ClinGen Ensembl
rs1566793166 CA390370151	117	L>S		No	ClinGen Ensembl
CA390357330 rs1313074232	118	E>K		No	ClinGen gnomAD
CA7265182 rs779903247	120	K>N		No	ClinGen ExAC gnomAD
CA7265183 rs753631045	122	T>A		No	ClinGen ExAC gnomAD
rs1213464431 CA390357398	124	Q>K		No	ClinGen gnomAD
rs942255180 CA263517867	125	I>M		No	ClinGen gnomAD
CA390357426 rs1262560462	126	N>S		No	ClinGen TOPMed
rs748275958 CA7265186	127	E>K		No	ClinGen ExAC gnomAD
CA7265187 rs551672495	128	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA390357450 rs1284995748	129	E>K		No	ClinGen TOPMed gnomAD
CA390357470 rs1441404105	130	G>E		No	ClinGen TOPMed
rs777914611 CA7265188	130	G>R		No	ClinGen ExAC gnomAD
CA390357474 rs1372824977	131	Q>*		No	ClinGen TOPMed
CA390357481 rs1182965496	131	Q>H		No	ClinGen gnomAD
CA390357476 rs1318140832	131	Q>P		No	ClinGen TOPMed
CA390357496 rs1407968489	133	H>R		No	ClinGen gnomAD
rs747246641 CA7265189	134	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	135	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1456367734	136	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1385133131 CA390357531	137	K>R		No	ClinGen TOPMed
rs770987682 COSM259728 CA7265190	138	E>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
rs1465027957 CA390357558	139	I>T		No	ClinGen TOPMed
CA390357554 rs1159764952	139	I>V		No	ClinGen TOPMed
CA263517904 rs919402757	140	G>V		No	ClinGen Ensembl
CA390357581 rs1377582641	141	M>I		No	ClinGen TOPMed
CA263517908 rs929477602	141	M>T		No	ClinGen Ensembl
rs1469504852 CA390357588	142	I>F		No	ClinGen gnomAD
CA7265191 rs565270215	142	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA390357587 rs1469504852	142	I>V		No	ClinGen gnomAD
CA7265192 rs759842147	143	H>Y		No	ClinGen ExAC gnomAD
rs1448917749 CA390357618	145	E>V		No	ClinGen gnomAD
rs375635666 CA263517917	148	A>T		No	ClinGen Ensembl
rs775956231 CA7265194	151	Q>E		No	ClinGen ExAC gnomAD
CA7265195 rs761292267	151	Q>R		No	ClinGen ExAC gnomAD
rs1329550968 CA390357722	153	Q>*		No	ClinGen gnomAD
rs1222532033 CA390357744	154	K>R		No	ClinGen gnomAD
rs767053840 CA7265198	160	E>G		No	ClinGen ExAC gnomAD
CA390357903 rs1174708504	163	L>V		No	ClinGen gnomAD
rs765900346 CA390357941 CA7265202	164	D>E		No	ClinGen ExAC gnomAD
rs1271049102 CA390357924	164	D>N		No	ClinGen gnomAD
CA390357951 rs367784550	165	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs367784550 CA7265203	165	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	168	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1332560641 CA390359172	171	R>G		No	ClinGen gnomAD
TCGA novel	173	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7265222 rs776400462	174	E>K		No	ClinGen ExAC gnomAD
rs765118998 CA390359228	175	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7265224 rs765118998	175	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs759462303 CA390359224	175	R>W		No	ClinGen ExAC gnomAD
rs1465306418 CA390359242	177	H>Y		No	ClinGen TOPMed
CA390359262 rs1274684156	179	E>D		No	ClinGen TOPMed gnomAD
CA390359276 rs763886614	182	R>G		No	ClinGen ExAC TOPMed gnomAD
rs17182762 CA7265228 VAR_059619	183	R>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7265230 rs781453664	185	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	186	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143341091 CA7265232	187	R>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA263520521 rs74701132	188	F>I		No	ClinGen Ensembl
CA263520525 rs940332381	190	E>*		No	ClinGen TOPMed gnomAD
TCGA novel	191	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1282937884 CA390359337	191	E>K		No	ClinGen TOPMed
rs756266299 CA7265234	192	K>E		No	ClinGen ExAC gnomAD
CA7265251 rs767592531	193	H>D		No	ClinGen ExAC TOPMed gnomAD
CA7265252 rs750449804	194	R>*		No	ClinGen ExAC TOPMed gnomAD
CA7265253 rs756352111	194	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780100779 CA7265254	195	L>V		No	ClinGen ExAC gnomAD
rs1344911080 CA390359488	198	E>K		No	ClinGen TOPMed
rs1449907892 CA390359497	199	A>D		No	ClinGen gnomAD
rs1341634661 CA390359505	200	E>V		No	ClinGen gnomAD
rs780859463 CA7265261 COSM3420025	201	K>N	Variant assessed as Somatic; 4.726e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs772640645 CA7265260	201	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	202	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1392684787 CA390359518	202	K>R		No	ClinGen TOPMed
rs745320500 CA390359525	203	I>K		No	ClinGen ExAC gnomAD
CA7265265 rs183771610	203	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745320500 CA7265264	203	I>T		No	ClinGen ExAC gnomAD
CA390359530 rs1595064852	204	I>K		No	ClinGen Ensembl
rs867000140 CA263524103	204	I>M		No	ClinGen TOPMed gnomAD
CA390359541 rs1256921602	205	M>I		No	ClinGen gnomAD
rs1202287904 CA390359534	205	M>V		No	ClinGen gnomAD
CA390359545 rs1204391111	206	L>P		No	ClinGen gnomAD
rs1595064904 CA390359548	207	A>P		No	ClinGen Ensembl
CA390359558 rs1180947412	208	E>V		No	ClinGen gnomAD
CA7265267 rs762866064	211	H>R		No	ClinGen ExAC TOPMed gnomAD
CA390359816 rs1467875792	212	H>R		No	ClinGen TOPMed gnomAD
rs371096556 CA7265268	212	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1304127801 CA390359833	214	A>T		No	ClinGen gnomAD
rs1391358556 CA390359853	215	I>M		No	ClinGen gnomAD
rs774132070 CA7265269	216	V>A		No	ClinGen ExAC gnomAD
CA263524117 rs917604171	216	V>M		No	ClinGen Ensembl
CA390359935 rs1290803042	217	Q>*		No	ClinGen gnomAD
rs1487347283 CA390359942	217	Q>L		No	ClinGen gnomAD
CA7265286 rs748900725	220	D>N		No	ClinGen ExAC TOPMed gnomAD
CA390360021 rs1380743156	224	N>S		No	ClinGen TOPMed
rs1391423538 CA390360043	226	F>S		No	ClinGen gnomAD
rs1397847946 CA390360063	228	E>*		No	ClinGen Ensembl
rs1163427419 CA390360072	228	E>D		No	ClinGen gnomAD
rs1394745184 CA390360067	228	E>G		No	ClinGen gnomAD
CA7265291 rs3784038	230	D>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390360089 rs3784038	230	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7265290 rs3784038 VAR_059620	230	D>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	232	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1448759384 CA390360116	233	Q>E		No	ClinGen TOPMed
CA390360132 rs1359688981	234	K>T		No	ClinGen TOPMed
CA7265293 rs773113000	238	Y>H		No	ClinGen ExAC gnomAD
CA7265295 rs766363949	241	K>*		No	ClinGen ExAC gnomAD
CA7265297 rs759690523	245	A>T	Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7265298 rs765446845	245	A>V		No	ClinGen ExAC gnomAD
rs753139139 CA7265299	246	L>Q		No	ClinGen ExAC gnomAD
CA390360266 rs1168891593	247	Q>*		No	ClinGen TOPMed
CA7265302 rs181276488	247	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
rs181276488 CA7265303	247	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1180779677 CA390360292	248	K>N		No	ClinGen TOPMed
TCGA novel	248	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1265785976 CA390360294	249	N>H		No	ClinGen gnomAD
rs1485351640 CA390360300	249	N>S		No	ClinGen gnomAD
rs747134194	249	N>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1206388646 CA390360321	251	Q>*		No	ClinGen gnomAD
rs1249347228 CA390360339	252	K>R		No	ClinGen gnomAD
CA7265304 rs752110701	254	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	254	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1412348276 CA390360365	255	E>K		No	ClinGen gnomAD
rs757718653 CA7265305	256	S>G		No	ClinGen ExAC TOPMed gnomAD
rs185884398 CA7265306	258	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	259	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs915187491 CA263525296	259	L>S		No	ClinGen Ensembl
rs748787248 CA7265308	260	L>F		No	ClinGen ExAC gnomAD
CA390360420 rs748787248	260	L>V		No	ClinGen ExAC gnomAD
rs1482961294 CA390360449	262	H>Q		No	ClinGen TOPMed
rs764560796 CA7265323	267	N>S		No	ClinGen ExAC gnomAD
rs1317961126 CA390360877	270	L>S		No	ClinGen TOPMed
rs200080708 COSM1198104 CA7265324	274	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1052866219 CA390360927	277	Q>*		No	ClinGen TOPMed gnomAD
CA263526138 rs1052866219	277	Q>E		No	ClinGen TOPMed gnomAD
rs757730443 CA7265325	277	Q>R		No	ClinGen ExAC gnomAD
CA390360934 rs1174068670	278	L>F		No	ClinGen gnomAD
CA390360946 rs1291106175	280	Q>*		No	ClinGen TOPMed
CA7265326 rs768033405	282	R>K		No	ClinGen ExAC TOPMed gnomAD
CA390360963 rs768033405	282	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1349782113 CA390360984	285	I>T		No	ClinGen gnomAD
rs549213698 CA7265327	288	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1222470249 CA390361013	289	Q>H		No	ClinGen gnomAD
CA390361010 rs1329490933	289	Q>R		No	ClinGen gnomAD
CA390361020 rs1313375199	290	K>N		No	ClinGen gnomAD
CA7265328 rs754492846	290	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA390361035 rs752339393	293	V>I		No	ClinGen ExAC TOPMed gnomAD
rs752339393 CA7265330	293	V>L		No	ClinGen ExAC TOPMed gnomAD
CA390361055 rs1388483853	296	E>K		No	ClinGen TOPMed
CA7265333 rs746765720	297	T>S		No	ClinGen ExAC TOPMed gnomAD
CA7265334 rs770805605	298	A>T		No	ClinGen ExAC gnomAD
rs745982115 CA7265336	299	L>P		No	ClinGen ExAC gnomAD
CA390361074 rs1415166822	299	L>V		No	ClinGen TOPMed gnomAD
rs769979794 CA7265337	300	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1476682906 CA390361108	304	K>E		No	ClinGen gnomAD
TCGA novel	304	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1350839951 CA390361111	304	K>R		No	ClinGen gnomAD
TCGA novel CA7265341 rs139139753	306	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC gnomAD NCI-TCGA
rs146013405 CA7265340	306	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs146013405 CA263526234	306	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA263526251 rs899657235	311	L>S		No	ClinGen gnomAD
CA7265343 rs762211246	313	L>R		No	ClinGen ExAC TOPMed gnomAD
CA7265342 rs774888070	313	L>V		No	ClinGen ExAC TOPMed gnomAD
CA390361204 rs1394791595	317	A>E		No	ClinGen TOPMed
CA390361202 rs759037838	317	A>P		No	ClinGen ExAC TOPMed gnomAD
CA7265346 rs759037838	317	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA390361218 rs1566811991	318	M>I		No	ClinGen Ensembl
rs1375298502 CA390361214	318	M>T		No	ClinGen TOPMed
rs755525883 CA7265347	318	M>V		No	ClinGen ExAC gnomAD
CA390361225 rs1275800397	319	I>V		No	ClinGen gnomAD
rs148079124 CA7265348	321	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA390361263 rs1436911621	322	Q>*		No	ClinGen TOPMed
rs1595073375 CA390361269	322	Q>H		No	ClinGen Ensembl
CA7265349 rs141848407	322	Q>R		No	ClinGen ESP ExAC gnomAD
CA390361273 rs1248740192	323	A>T		No	ClinGen gnomAD
CA7265350 rs777360392	324	G>R		No	ClinGen ExAC gnomAD
CA390361291 rs1368978463	324	G>V		No	ClinGen TOPMed
rs751350076 CA390361297	325	Q>P		No	ClinGen ExAC gnomAD
rs751350076 CA7265351	325	Q>R		No	ClinGen ExAC gnomAD
rs1404612376 CA390361355	329	D>G		No	ClinGen TOPMed gnomAD
CA7265355 rs769798206	329	D>Y		No	ClinGen ExAC gnomAD
rs1421992122 CA390361382	332	Q>*		No	ClinGen TOPMed
CA390361419 rs1256643683	334	L>F		No	ClinGen TOPMed
rs749340749 CA7265357	335	L>R		No	ClinGen ExAC gnomAD
CA390361452 rs551435267 CA7265358	336	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7265359 rs34995157	337	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1566812211 CA390361502	339	D>A		No	ClinGen Ensembl
rs762146616 CA7265360	339	D>N		No	ClinGen ExAC
CA263526396 CA390361560 rs992351067	342	M>I		No	ClinGen TOPMed gnomAD
CA7265361 rs772483840	342	M>V		No	ClinGen ExAC gnomAD
CA390361585 rs1356251630	344	R>C		No	ClinGen gnomAD
CA390361588 rs1356251630	344	R>G		No	ClinGen gnomAD
CA7265362 rs773380097	344	R>H		No	ClinGen ExAC TOPMed gnomAD
rs761255155 CA7265363	345	V>M		No	ClinGen ExAC gnomAD
CA7265364 rs766819766	348	L>V		No	ClinGen ExAC gnomAD
CA263526426 rs763562720	349	A>T		No	ClinGen Ensembl
rs1246270199 CA390361678	349	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA390361681 rs752230969	350	K>E		No	ClinGen ExAC
CA7265366 rs537087023	350	K>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752230969 CA7265365	350	K>Q		No	ClinGen ExAC
rs367841913 CA7265367	351	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA263526483 rs961384710	352	I>V		No	ClinGen TOPMed gnomAD
rs1161299600 CA390361796	357	T>R		No	ClinGen gnomAD
rs1348988168 CA390361818	359	V>M		No	ClinGen TOPMed
CA7265368 rs751210233	360	E>Q		No	ClinGen ExAC gnomAD
CA390361854 rs1328497857	361	R>S		No	ClinGen TOPMed
TCGA novel rs757064606 CA7265369	362	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed
CA390361861 rs1410740941	362	F>Y		No	ClinGen TOPMed
rs767360530 CA7265370	367	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7265372 rs756152411	368	H>P		No	ClinGen ExAC gnomAD
TCGA novel	370	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1029907088 CA263526516	372	Q>*		No	ClinGen TOPMed
CA390362005 rs1243191878	374	I>F		No	ClinGen gnomAD
rs1263449194 CA390362066	378	R>S		No	ClinGen TOPMed gnomAD
CA263526531 rs201518206	378	R>T		No	ClinGen Ensembl
CA390362079 rs1357417395	379	K>R		No	ClinGen gnomAD
rs749431802 CA7265374	383	Q>*		No	ClinGen ExAC gnomAD
CA7265375 rs755099903	384	I>M		No	ClinGen ExAC gnomAD
rs1331479701 CA390362181	384	I>T		No	ClinGen gnomAD
rs550932202 CA7265378	390	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs550932202 CA390362265	390	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs550932202 CA7265377	390	N>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1263226119 CA390362314	393	M>I		No	ClinGen TOPMed gnomAD
CA390362356 rs773646257	397	C>*		No	ClinGen ExAC gnomAD
rs753348276 CA7265379	397	C>G		No	ClinGen ExAC TOPMed gnomAD
rs753348276 CA263526547	397	C>S		No	ClinGen ExAC TOPMed gnomAD
CA390362383 rs1458466729	400	R>G		No	ClinGen gnomAD
rs1252158829 CA390362425	403	Y>F		No	ClinGen TOPMed
CA390362435 rs1207578465	404	P>A		No	ClinGen TOPMed
rs1400823413 CA390362437	404	P>H		No	ClinGen gnomAD
CA7265381 rs747331688	405	K>Q		No	ClinGen ExAC gnomAD
CA390362490 rs1595074100	408	T>I		No	ClinGen Ensembl
rs1430775563 CA390362519	410	D>E		No	ClinGen gnomAD
rs1341580568 CA390362529	411	G>D		No	ClinGen gnomAD
rs777100661 CA7265383	414	H>N		No	ClinGen ExAC TOPMed gnomAD
rs867626949 CA263526607	414	H>Q		No	ClinGen Ensembl
rs762507881 CA7265384	414	H>R		No	ClinGen ExAC gnomAD
rs777100661 CA390362555	414	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	415	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201424718 CA7265385	415	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA390362577 rs1342884736	417	N>S		No	ClinGen gnomAD
CA390362584 rs1202231808	418	S>N		No	ClinGen gnomAD
CA390362617 rs1595074242	422	D>E		No	ClinGen Ensembl
CA390362611 rs1443311731	422	D>N		No	ClinGen TOPMed
CA7265389 rs142599851	423	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7265390 rs142599851	423	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201087063 CA7265391	424	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA390362623 rs1321783465	424	L>V		No	ClinGen TOPMed
CA7265392 rs753826631	425	E>D		No	ClinGen ExAC TOPMed gnomAD
CA390362636 rs1182369691	426	A>S		No	ClinGen gnomAD
rs150987491 CA7265394	427	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758674158 CA7265396	429	W>*		No	ClinGen ExAC TOPMed gnomAD
CA390362659 rs758674158	429	W>L		No	ClinGen ExAC TOPMed gnomAD
CA263530966 rs761616445	430	T>A		No	ClinGen Ensembl
rs781363476 CA7265442	430	T>K		No	ClinGen ExAC TOPMed gnomAD
rs1372486891 CA390363157	431	H>L		No	ClinGen gnomAD
rs1372486891 CA390363155	431	H>R		No	ClinGen gnomAD
rs1235695940 CA390363200	434	G>R		No	ClinGen gnomAD
rs1566817565 CA390363252	436	V>A		No	ClinGen Ensembl
rs149259494 CA7265445	439	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390363328 rs750375501	440	D>E		No	ClinGen TOPMed gnomAD
rs749768283 CA7265446	442	T>N		No	ClinGen ExAC TOPMed gnomAD
CA390363360 rs1219601048	443	W>*		No	ClinGen gnomAD
CA263530991 rs762933808	447	E>K		No	ClinGen TOPMed
rs372260972 CA7265447 COSM1246488	451	R>*	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1469003732 CA390363518	451	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs777451176 CA7265448	453	L>P		No	ClinGen ExAC gnomAD
CA7265449 rs746474940	454	F>I		No	ClinGen ExAC gnomAD
rs759430171 CA7265452	457	M>V		No	ClinGen ExAC gnomAD
CA263531019 rs867830976	458	N>S		No	ClinGen Ensembl
rs200224133 CA7265454	461	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1446369145 CA615192672	465	Y>*		No	ClinGen TOPMed gnomAD
rs1595093439 CA390364137	465	Y>H		No	ClinGen Ensembl
rs762511088 CA263531925	467	Q>R		No	ClinGen Ensembl
CA390364172 rs1295486244	469	S>F		No	ClinGen gnomAD
CA390364237 rs1595093520	474	P>L		No	ClinGen Ensembl
CA263531941 rs1017380962	482	G>R		No	ClinGen TOPMed
CA390364372 rs1482177338	483	E>D		No	ClinGen TOPMed
CA390364437 rs1210742731	488	G>R		No	ClinGen TOPMed
rs760780073 CA7265501	489	D>H		No	ClinGen ExAC gnomAD
CA7265502 rs771104282	490	E>D		No	ClinGen ExAC gnomAD
CA390364521 rs1236563385	490	E>G		No	ClinGen gnomAD
rs1348501596 CA390364526	491	S>G		No	ClinGen gnomAD
COSM957718 rs776896070 CA7265503	494	Q>*	endometrium Variant assessed as Somatic; 4.636e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7265504 rs538855239	495	D>E		No	ClinGen 1000Genomes ExAC gnomAD
VAR_027815 CA7265505 rs3742809	496	K>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	496	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390364624 rs1266079967	497	I>M		No	ClinGen gnomAD
CA7265506 rs373121592	497	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1320226562 CA390364677	502	Q>*		No	ClinGen TOPMed
rs764620562 CA7265508	503	I>T		No	ClinGen ExAC TOPMed gnomAD
CA7265509 rs749951354	504	A>S		No	ClinGen ExAC TOPMed gnomAD
rs755638669 CA7265510	505	I>L		No	ClinGen ExAC gnomAD
CA390364699 rs1306764171	505	I>M		No	ClinGen TOPMed
rs1357893777 CA390364697	505	I>T		No	ClinGen TOPMed
rs755638669 CA390364695	505	I>V		No	ClinGen ExAC gnomAD
rs1375071449 CA390364705	506	S>*		No	ClinGen gnomAD
rs779639520 CA7265511	507	D>A		No	ClinGen ExAC gnomAD
CA390364706 rs1408647394	507	D>N		No	ClinGen TOPMed
rs1396607704 CA390364720	509	S>P		No	ClinGen TOPMed
CA390364727 rs1162942013	510	G>C		No	ClinGen gnomAD
CA390364730 rs1299458004	510	G>V		No	ClinGen TOPMed
rs1456059534 CA390364763	516	T>A		No	ClinGen TOPMed
rs1326649533 CA390364766	516	T>I		No	ClinGen TOPMed gnomAD
rs1326649533 CA390364767	516	T>S		No	ClinGen TOPMed gnomAD
rs3742808 CA390364809	522	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390364823 rs1434193741	524	S>C		No	ClinGen gnomAD
rs1023821718 CA263532184	526	T>I		No	ClinGen Ensembl
CA263540488 rs539773352	528	T>I		No	ClinGen ExAC gnomAD
CA7265586 rs539773352	528	T>N		No	ClinGen ExAC gnomAD
rs747524760 CA7265587	529	F>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs771375490 CA7265588	530	F>R		No	ClinGen ExAC gnomAD

No associated diseases with Q8ND07

1 regional properties for Q8ND07

Type	Name	Position	InterPro Accession
domain	Domain of unknown function DUF4515	77 - 270	IPR032777

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton, cilium basal body Cytoplasm, cytoskeleton, flagellum axoneme	Localizes to a polar structure adjacent to the basal body
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
ciliary basal body	A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
motile cilium assembly	The aggregation, arrangement and bonding together of a set of components to form a motile cilium.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3V079	Bbof1	Basal body-orientation factor 1	Mus musculus (Mouse)	PR
Q08C53	bbof1	Basal body-orientation factor 1	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MPSKGKDKKK	GKSKGKDTKK	LIKTDESVVD	RAKANASLWE	ARLEVTELSR	IKYRDTSRIL
70	80	90	100	110	120
AKSNEDLKKK	QCKMEKDIMS	VLSYLKKQDQ	EKDNMIEKLK	QQLNETKEKA	QEEKDKLEQK
130	140	150	160	170	180
YTRQINELEG	QFHQKAKEIG	MIHTELKAVR	QFQKRKIQVE	RELDDLKENL	RNTERIHQET
190	200	210	220	230	240
LRRLESRFFE	EKHRLEQEAE	KKIIMLAERA	HHEAIVQLND	AGRNVFKEND	YLQKALAYHL
250	260	270	280	290	300
KETDALQKNS	QKLQESHTLL	LHQKEINDLL	VKEKIMQLVQ	QRSQIQTLQK	KVVNLETALS
310	320	330	340	350	360
YMTKEFESEV	LKLQQHAMIE	NQAGQVEIDK	LQHLLQMKDR	EMNRVKKLAK	NILDERTEVE
370	380	390	400	410	420
RFFLDALHQV	KQQILISRKH	YKQIAQAAFN	LKMRAACTGR	TEYPKIRTFD	GREHSTNSVN
430	440	450	460	470	480
QDLLEAEKWT	HIEGNVDIGD	LTWEQKEKVL	RLLFAKMNGC	PSRKYNQSSR	PPVPDYVVSD
490	500	510	520
SGETKEFGDE	SKLQDKIFIT	QQIAISDSSG	EVVLPTIPKE	PQESDTGTF