AiPD: Autoinhibited Protein Database

A6NI79

Gene name	CCDC69
Protein name	Coiled-coil domain-containing protein 69
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26112
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-61 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-61 (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 A6NI79

Entry ID	Method	Resolution	Chain	Position	Source
AF-A6NI79-F1	Predicted				AlphaFoldDB

291 variants for A6NI79

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1214097496 CA361811216	2	G>R		No	ClinGen TOPMed gnomAD
CA3517793 rs138139529	4	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs942658210 CA129905672	4	R>S		No	ClinGen TOPMed gnomAD
CA3517792 rs751285143	5	H>Y		No	ClinGen ExAC gnomAD
rs766060919 CA3517791	6	S>N		No	ClinGen ExAC gnomAD
rs758137172 CA3517790	7	R>K		No	ClinGen ExAC TOPMed gnomAD
CA129905665 rs994493457	7	R>S		No	ClinGen Ensembl
CA3517789 rs150441044	8	L>V		No	ClinGen ESP ExAC gnomAD
CA3517787 rs761854152	12	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1391542017 CA361811032	13	P>H		No	ClinGen gnomAD
rs553558296 CA3517786	13	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3517785 rs553558296	13	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361811017 rs1276410031	14	P>L		No	ClinGen TOPMed
rs757993279	14	P>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA3517783 rs774563409	16	K>N		No	ClinGen ExAC TOPMed
CA3517742 rs377651858	17	K>E		No	ClinGen ESP ExAC gnomAD
CA129898239 rs751231844	17	K>N		No	ClinGen Ensembl
rs374068855 CA3517741	18	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747546885 CA3517739	18	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3517740 rs747546885	18	R>L		No	ClinGen ExAC TOPMed gnomAD
rs771648137 CA361807775 COSM1672049	19	Q>*	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs771648137 CA3517738	19	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs971203630 CA129898218	23	P>A		No	ClinGen TOPMed
rs578106298 CA3517736	23	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs578106298 CA3517735	23	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA361807648 rs1358197908	24	E>G		No	ClinGen gnomAD
rs1284576644 CA361807621	25	Q>*		No	ClinGen TOPMed gnomAD
CA3517734 rs748936883	26	P>S		No	ClinGen ExAC TOPMed gnomAD
CA129898209 rs148314354	27	P>S		No	ClinGen ESP
CA361807511 rs1411713762	30	E>D		No	ClinGen gnomAD
rs985280986 COSM590895 CA129898207	30	E>Q	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1336487198 CA361807494	31	P>L		No	ClinGen gnomAD
CA361807478 rs1393255005	32	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361807482 rs1404101309	32	H>Y		No	ClinGen gnomAD
rs114290039 CA3517729	35	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1026871006 CA361807456	35	G>C		No	ClinGen gnomAD
rs1026871006 CA129898203	35	G>S		No	ClinGen gnomAD
rs114290039 CA3517730	35	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	36	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA129898199 rs961073686	36	P>S		No	ClinGen TOPMed gnomAD
CA3517728 rs370703202	38	N>I		No	ClinGen ESP ExAC gnomAD
rs370703202 COSM1724486 CA361807428	38	N>S	NS [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA129898185 rs865950237	39	G>R		No	ClinGen Ensembl
CA3517727 rs765351561	41	T>K		No	ClinGen ExAC TOPMed gnomAD
rs1232481878 CA361807377	42	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs781024062 CA3517711	43	I>V		No	ClinGen ExAC gnomAD
TCGA novel	44	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA129896179 rs984697980	45	V>F		No	ClinGen Ensembl
CA361807026 rs1211168167	46	Q>*		No	ClinGen TOPMed
CA3517709 rs746931234	46	Q>P		No	ClinGen ExAC gnomAD
TCGA novel	49	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1561601761 CA361806962	50	S>L		No	ClinGen Ensembl
rs754148733 CA3517706	53	A>T		No	ClinGen ExAC gnomAD
rs140977954 CA3517704	55	R>Q	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs778077929 CA3517705 COSM3381159	55	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs767921227 CA3517702	59	D>G		No	ClinGen ExAC TOPMed gnomAD
CA3517700 rs760003005	61	T>N		No	ClinGen ExAC TOPMed gnomAD
rs745981519 CA3517697	62	R>G		No	ClinGen ExAC TOPMed gnomAD
CA361806695 rs1170187727	65	Q>H		No	ClinGen TOPMed gnomAD
rs1582045024 CA361806707	65	Q>P		No	ClinGen Ensembl
rs772864509 CA3517696	67	H>Y		No	ClinGen ExAC gnomAD
rs769490491 CA3517695	68	E>A		No	ClinGen ExAC TOPMed gnomAD
rs761518787 CA3517694	70	E>Q		No	ClinGen ExAC
TCGA novel	72	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3517693 rs776329414	74	W>R		No	ClinGen ExAC
rs768472982 CA3517692	75	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3517691 rs200171089	76	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3517689 rs781450440	77	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA3517690 rs187592890	77	Q>R		No	ClinGen 1000Genomes ExAC
CA361805683 rs559088110	81	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
rs559088110 CA129894613	81	E>Q		No	ClinGen 1000Genomes gnomAD
CA3517660 rs780389055	83	E>D		No	ClinGen ExAC gnomAD
CA361805647 rs1252757386	86	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	86	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM168577 CA3517657 rs114476897	87	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA3517656 rs114476897	87	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361805643 rs1235866149	87	R>Q		No	ClinGen TOPMed
rs183989777 CA3517654	88	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361805623 rs1353189145	90	L>P		No	ClinGen gnomAD
CA361805613 rs1215906947	92	E>K		No	ClinGen gnomAD
rs763749623 CA3517653	93	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs61066192 CA361805585	95	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3517652 rs760234382	95	R>T		No	ClinGen ExAC gnomAD
TCGA novel	97	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361805574 rs1561601123	97	L>P		No	ClinGen Ensembl
CA361805556 rs1162402368	100	K>T		No	ClinGen TOPMed gnomAD
rs3734038 CA361805545	101	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148835102 CA3517649	101	N>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3517647 rs769766241	102	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA129894520 rs923035732	103	E>D		No	ClinGen TOPMed
rs1295264463 CA361805528	104	A>T		No	ClinGen gnomAD
CA361805514 rs1387711091	106	Q>P		No	ClinGen gnomAD
TCGA novel	107	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs887429293 CA129886753	107	V>A		No	ClinGen Ensembl
TCGA novel	108	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs61745454 CA3517623	108	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA129886730 rs386693598	108	L>PW		No	ClinGen Ensembl
rs746175735 CA3517620	109	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs116701374 CA3517621	109	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1037571768 CA129886704	110	A>V		No	ClinGen Ensembl
CA3517616 rs777392184	112	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA3517614 rs138290590	113	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs755637802 CA3517615	113	E>K		No	ClinGen ExAC gnomAD
CA3517613 rs780932993	114	Q>*		No	ClinGen ExAC gnomAD
CA361805282 rs1314866142	116	K>E		No	ClinGen gnomAD
rs549592183 CA3517609	118	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3517611 rs751437294	118	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3517610 rs549592183	118	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3517608 rs147336268	119	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3517607 rs147336268	119	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1341713858 CA361805264	119	L>P		No	ClinGen TOPMed
rs760684238 CA3517606	120	T>S		No	ClinGen ExAC gnomAD
rs1422207499 CA361805246	122	S>P		No	ClinGen TOPMed gnomAD
CA361805245 rs1374064430	122	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361805238 rs142006070	123	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs142006070 CA3517605	123	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3517603 rs115540962	124	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772342301 CA3517604	124	R>W		No	ClinGen ExAC TOPMed gnomAD
rs774819545 CA3517602	125	E>Q		No	ClinGen ExAC gnomAD
CA3517601 rs771177955	128	S>F		No	ClinGen ExAC gnomAD
CA361805201 rs1184295135	129	T>I		No	ClinGen Ensembl
rs749825933 CA3517600	130	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs748633557 CA3517577	132	E>D		No	ClinGen ExAC
rs1277871902 CA361805125	132	E>V		No	ClinGen gnomAD
rs1158560432 CA361805118	133	T>I		No	ClinGen TOPMed
CA361805113 rs1336833999	134	I>M		No	ClinGen gnomAD
rs776330114 CA3517576	134	I>T		No	ClinGen ExAC TOPMed gnomAD
CA129885595 rs867756572	134	I>V		No	ClinGen Ensembl
rs768229072 CA3517575	135	D>H		No	ClinGen ExAC gnomAD
TCGA novel	135	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746702374 CA3517574	138	T>A		No	ClinGen ExAC gnomAD
CA3517573 rs779502687	138	T>I		No	ClinGen ExAC TOPMed gnomAD
CA361805065 rs1295006171	142	E>V		No	ClinGen TOPMed
CA361805060 rs1343447151	143	A>S		No	ClinGen TOPMed
CA129885582 rs913278565	143	A>V		No	ClinGen TOPMed
CA361805039 COSM1542664 rs1215250065	146	A>D	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA3517570 rs778679066	146	A>T		No	ClinGen ExAC gnomAD
rs1352297778 CA361805026	148	M>K		No	ClinGen TOPMed
rs757230320 CA3517569	148	M>L		No	ClinGen ExAC gnomAD
TCGA novel	148	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3517567 rs767606950	152	E>D		No	ClinGen ExAC
rs753753553 CA3517568	152	E>K		No	ClinGen ExAC gnomAD
rs754974707 CA3517566	154	S>C		No	ClinGen ExAC gnomAD
TCGA novel	155	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1469649639 CA361804962	157	S>R		No	ClinGen TOPMed gnomAD
rs371784207 CA3517565	158	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs766566754 CA3517564	158	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA361804952 rs1464637080	159	N>I		No	ClinGen gnomAD
rs1018534169 CA129885538	160	Y>C		No	ClinGen TOPMed gnomAD
rs367632765 CA3517563	160	Y>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA3517562 rs773751517	162	K>*		No	ClinGen ExAC gnomAD
rs1206368949 CA361804923	163	H>R		No	ClinGen TOPMed
CA361804919 rs1274769432	164	I>V		No	ClinGen gnomAD
CA3517541 rs765727474	166	D>E		No	ClinGen ExAC gnomAD
rs751194713 CA3517540	167	Y>C		No	ClinGen ExAC gnomAD
CA361804876 rs1310572790	168	G>E		No	ClinGen gnomAD
CA361804878 rs1339316659	168	G>W		No	ClinGen gnomAD
CA3517539 rs777289751	169	S>G		No	ClinGen ExAC gnomAD
CA3517538 rs764569840	171	S>R		No	ClinGen ExAC gnomAD
rs761241013 CA3517537	172	Q>H		No	ClinGen ExAC gnomAD
CA361804848 rs1582038028	172	Q>L		No	ClinGen Ensembl
rs1421394279 CA361804844	173	F>L		No	ClinGen gnomAD
CA361804826 rs1582038015	175	E>G		No	ClinGen Ensembl
CA129884997 rs267600489	175	E>K		No	ClinGen Ensembl
rs1343054071 CA361804804	178	L>Q		No	ClinGen gnomAD
CA3517536 rs774903995	181	L>I		No	ClinGen ExAC gnomAD
CA361804777 rs1475876707	182	H>Y		No	ClinGen TOPMed gnomAD
CA3517534 rs759212905	184	V>A		No	ClinGen ExAC TOPMed gnomAD
CA361804760 rs759212905	184	V>D		No	ClinGen ExAC TOPMed gnomAD
rs528537699 CA361804752	185	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3517530 rs561228158	186	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3517531 rs561228158	186	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1275618593 CA361804740	187	M>R		No	ClinGen TOPMed gnomAD
CA361804744 rs1306118968	187	M>V		No	ClinGen gnomAD
rs1214770395 CA361804715	190	E>V		No	ClinGen gnomAD
rs748092478 CA3517528	191	R>C	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748092478 CA3517529	191	R>G		No	ClinGen ExAC TOPMed gnomAD
rs780016023 COSM449128 CA3517527	191	R>H	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs780016023 CA361804711	191	R>P		No	ClinGen ExAC TOPMed gnomAD
CA361804702 rs1481380210	193	H>N		No	ClinGen TOPMed gnomAD
rs371225426 CA129884968	194	E>G		No	ClinGen ESP gnomAD
rs1355550542 CA361804684	195	L>P		No	ClinGen gnomAD
rs1307337485 CA361804680	196	D>Y		No	ClinGen gnomAD
CA3517526 rs248427 VAR_042584	197	R>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs248427 CA129884957	197	R>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA129884958 rs248427	197	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	197	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3517523 rs757537742	198	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs73796622 CA3517524	198	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1417358930 CA361804663	199	L>R		No	ClinGen gnomAD
rs368383192 CA3517521	201	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs138884124 CA3517520	202	M>I		No	ClinGen ESP ExAC gnomAD
rs766970841 CA3517518	203	E>A		No	ClinGen ExAC gnomAD
rs61741428 CA3517519	203	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3517517 rs758983621	204	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1290771967 CA361804627	205	V>A		No	ClinGen TOPMed
rs1305413168 CA361804588	206	K>R		No	ClinGen gnomAD
CA3517486 rs746914332	207	E>G		No	ClinGen ExAC gnomAD
TCGA novel	207	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746914332 CA361804569	207	E>V		No	ClinGen ExAC gnomAD
CA3517485 rs774624227	209	N>S		No	ClinGen ExAC gnomAD
CA361804511 rs1451642955	211	I>M		No	ClinGen gnomAD
CA361804522 rs1426559058	211	I>V		No	ClinGen Ensembl
rs771086853 CA3517484	213	E>K		No	ClinGen ExAC gnomAD
CA361804470 rs1426797879	214	E>G		No	ClinGen TOPMed gnomAD
rs777989377 CA3517482	216	I>N		No	ClinGen ExAC gnomAD
CA3517483 rs749504572	216	I>V		No	ClinGen ExAC gnomAD
rs756451918 CA3517481	217	T>M		No	ClinGen ExAC gnomAD
rs376794089 CA3517479	218	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs765901395 CA3517477	219	L>P		No	ClinGen ExAC gnomAD
rs765901395 CA3517476	219	L>Q		No	ClinGen ExAC gnomAD
TCGA novel	224	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1203009870 CA361804328	224	E>G		No	ClinGen gnomAD
rs1387509868 CA361804336	224	E>K		No	ClinGen TOPMed
CA361804310 rs1582037446	225	D>A		No	ClinGen Ensembl
rs757833388 CA129883875	225	D>E		No	ClinGen ExAC TOPMed gnomAD
rs145610003 CA3517474	227	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1006829438 CA129883845	227	H>Y		No	ClinGen Ensembl
rs1282418562 CA361804271	228	V>F		No	ClinGen gnomAD
CA3517473 rs764997680	229	R>*	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761366082 CA3517472	229	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs549435759 CA3517471	231	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763961802 CA3517470	231	R>H		No	ClinGen ExAC TOPMed gnomAD
rs763961802 CA129883816	231	R>L		No	ClinGen ExAC TOPMed gnomAD
rs760712301 CA3517469	232	N>D		No	ClinGen ExAC gnomAD
rs1305200606 CA361804222	233	Q>H		No	ClinGen gnomAD
rs755931957 CA3517467	234	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1176093876 CA361804211	235	V>D		No	ClinGen gnomAD
CA361804213 rs1179228309	235	V>F		No	ClinGen Ensembl
CA3517452 rs370683418	239	Q>H		No	ClinGen ESP ExAC gnomAD
CA3517453 rs764012830	239	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA129882854 rs1046749747	243	D>Y		No	ClinGen Ensembl
rs878980868 CA129882844	244	L>P		No	ClinGen Ensembl
rs759389934 CA3517449	245	L>F		No	ClinGen ExAC gnomAD
CA3517448 rs180701365	246	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs10064866 CA129882824	247	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs10064866 CA3517447	247	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3517444 rs151212037	248	R>C	Variant assessed as Somatic; 4.736e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3517443 rs372308375	248	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372308375 CA361804128	248	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372308375 CA129882779	248	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA129882790 rs151212037	248	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1696581 rs780392867 CA3517441	250	A>V	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3517439 rs746337448	252	E>G		No	ClinGen ExAC TOPMed gnomAD
CA3517438 rs778517045	253	K>R		No	ClinGen ExAC TOPMed gnomAD
rs778517045 CA361804099	253	K>T		No	ClinGen ExAC TOPMed gnomAD
CA361804083 rs1424748655	255	V>A		No	ClinGen TOPMed gnomAD
CA361804079 rs1252207837	256	Q>*		No	ClinGen gnomAD
rs995812155 CA129882743	258	R>Q		No	ClinGen TOPMed gnomAD
rs142070600 CA3517436	258	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA3517435 rs149026271	259	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1350058011 CA361804062	259	R>Q		No	ClinGen TOPMed gnomAD
CA361804054 rs1265230818	260	Q>H		No	ClinGen TOPMed
CA3517433 rs755819624	261	L>R		No	ClinGen ExAC gnomAD
CA361804040 rs368742125	262	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA361804044 rs1378087694	262	Q>L		No	ClinGen gnomAD
rs1378087694 CA361804043	262	Q>R		No	ClinGen gnomAD
rs759536839 CA3517431	264	E>*		No	ClinGen ExAC TOPMed gnomAD
rs147596524 CA361804030	264	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs759536839 CA3517430	264	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3517429 rs147596524	264	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3517427 rs765359505	266	E>K		No	ClinGen ExAC TOPMed gnomAD
CA129882703 rs1033679164	267	E>G		No	ClinGen Ensembl
rs567869660 CA129882706	267	E>K		No	ClinGen Ensembl
CA361804004 rs115640747	268	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1440291390 CA361803989	270	Y>C		No	ClinGen gnomAD
CA3517423 rs775880549	271	R>P		No	ClinGen ExAC TOPMed
CA3517422 rs775880549	271	R>Q		No	ClinGen ExAC TOPMed
CA3517424 rs768932630	271	R>W		No	ClinGen ExAC TOPMed gnomAD
CA361803983 rs17851409	272	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3517419 rs17851409	272	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3517420 rs17851409	272	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs905777571 CA129882660	274	G>R		No	ClinGen TOPMed gnomAD
rs372546590 CA3517418	274	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA361803969 rs1434455126	275	A>T		No	ClinGen TOPMed
rs150024530 CA3517416	275	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA361803960 rs1355004747	276	N>S		No	ClinGen gnomAD
rs1351747769 CA361803954	277	A>T		No	ClinGen TOPMed
rs747782798 CA3517413	278	S>L		No	ClinGen ExAC TOPMed gnomAD
rs899689269 CA129882627	280	A>S		No	ClinGen Ensembl
CA361803903 rs1429661028	282	P>L		No	ClinGen gnomAD
CA361803879 rs1319760251	284	A>V		No	ClinGen gnomAD
CA3517410 rs751524937	285	P>L		No	ClinGen ExAC gnomAD
rs1436276701 CA361803843	287	T>I		No	ClinGen TOPMed gnomAD
rs1582036943 CA361803852	287	T>P		No	ClinGen Ensembl
rs766280570 CA3517409	288	P>H		No	ClinGen ExAC gnomAD
rs1425687057 CA361803841	288	P>T		No	ClinGen gnomAD
CA3517407 rs150897099	290	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs574161078 CA361803740	295	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs574161078 CA3517403	295	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs759761626 CA3517402	296	T>P		No	ClinGen ExAC gnomAD

No associated diseases with A6NI79

3 regional properties for A6NI79

Type	Name	Position	InterPro Accession
domain	CASTOR, ACT domain	72 - 140	IPR027795-1
domain	CASTOR, ACT domain	262 - 322	IPR027795-2
domain	CASTOR1, N-terminal	9 - 69	IPR040778

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton, spindle Midbody	During early anaphase, localizes along overlapping interpolar microtubules between the separating chromosomes During late anaphase, localizes to the center of spindle midzone Concentrated at the midbody during telophase
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
midbody	A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
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.
spindle midzone	The area in the center of the spindle where the spindle microtubules from opposite poles overlap.

1 GO annotations of molecular function

Name	Definition
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.

1 GO annotations of biological process

Name	Definition
spindle midzone assembly	The cell cycle process in which aggregation, arrangement and bonding together of a set of components to form the spindle midzone. The spindle midzone is the area in the center of the spindle where the spindle microtubules from opposite poles overlap.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MGCRHSRLSS	CKPPKKKRQE	PEPEQPPRPE	PHELGPLNGD	TAITVQLCAS	EEAERHQKDI
70	80	90	100	110	120
TRILQQHEEE	KKKWAQQVEK	ERELELRDRL	DEQQRVLEGK	NEEALQVLRA	SYEQEKEALT
130	140	150	160	170	180
HSFREASSTQ	QETIDRLTSQ	LEAFQAKMKR	VEESILSRNY	KKHIQDYGSP	SQFWEQELES
190	200	210	220	230	240
LHFVIEMKNE	RIHELDRRLI	LMETVKEKNL	ILEEKITTLQ	QENEDLHVRS	RNQVVLSRQL
250	260	270	280	290
SEDLLLTREA	LEKEVQLRRQ	LQQEKEELLY	RVLGANASPA	FPLAPVTPTE	VSFLAT