AiPD: Autoinhibited Protein Database

Q9HAY2

Gene name	MAGEF1
Protein name	Melanoma-associated antigen F1
Names	MAGE-F1, MAGE-F1 antigen
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64110
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-100 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-100 (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 Q9HAY2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9HAY2-F1	Predicted				AlphaFoldDB

307 variants for Q9HAY2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA89560494 rs897714948	3	Q>H		No	ClinGen Ensembl
rs1470187038 CA355480025	3	Q>R		No	ClinGen TOPMed gnomAD
rs754848876 CA2737213	6	E>G		No	ClinGen ExAC TOPMed
CA89560449 rs1036201507	8	R>G		No	ClinGen TOPMed gnomAD
CA2737211 rs766169297	9	G>E		No	ClinGen ExAC gnomAD
rs569579154 CA2737209	11	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA2737207 rs200354511	11	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2737208 rs200354511	11	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2737210 rs569579154	11	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1039583785 CA89560426	12	V>A		No	ClinGen TOPMed
rs776225768 CA2737206	13	P>S		No	ClinGen ExAC gnomAD
CA355479960 rs1343835440	14	Q>H		No	ClinGen TOPMed
CA2737205 rs768305001	15	A>V		No	ClinGen ExAC TOPMed gnomAD
rs761223217 CA2737204	16	E>D		No	ClinGen ExAC gnomAD
CA355479953 rs1435687771	16	E>K	Variant assessed as Somatic; 0.0001997 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA355479946 rs912558148 CA89560397	17	G>R		No	ClinGen TOPMed gnomAD
RCV000954618 rs544302047	18	E>missing		No	ClinVar dbSNP
CA355479940 rs1051155521	18	E>K		No	ClinGen TOPMed gnomAD
rs1051155521 CA89560393	18	E>Q		No	ClinGen TOPMed gnomAD
rs530841250 CA89560357	22	G>D		No	ClinGen Ensembl
CA2737202 rs775899868	22	G>S		No	ClinGen ExAC TOPMed gnomAD
CA355479906 rs1402083864	23	H>Y		No	ClinGen Ensembl
rs974621074 CA355479900	24	D>H		No	ClinGen TOPMed gnomAD
rs974621074 CA89560343	24	D>N		No	ClinGen TOPMed gnomAD
CA355479874 rs1298788630	27	T>I		No	ClinGen TOPMed gnomAD
CA355479877 rs1166228793	27	T>S		No	ClinGen TOPMed
rs1352965709 CA355479872	28	R>W		No	ClinGen gnomAD
rs1305408818 CA355479867	29	A>P		No	ClinGen TOPMed gnomAD
rs1305408818 CA355479868	29	A>T		No	ClinGen TOPMed gnomAD
rs779188132 CA355479859	30	P>L		No	ClinGen ExAC gnomAD
rs779188132 CA2737199	30	P>R		No	ClinGen ExAC gnomAD
CA2737200 rs536560183	30	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA355479856 rs1388950555	31	T>S		No	ClinGen TOPMed
CA355479850 rs1408133751	32	A>S		No	ClinGen gnomAD
CA2737194 rs751496548	33	S>*		No	ClinGen ExAC gnomAD
rs751496548 CA2737195	33	S>L		No	ClinGen ExAC gnomAD
CA355479845 rs1468335363	33	S>P		No	ClinGen gnomAD
CA2737193 rs368587337	34	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750118538 CA355479839 CA2737191	34	Q>H		No	ClinGen ExAC gnomAD
CA89560239 rs758209048	34	Q>L		No	ClinGen ExAC gnomAD
rs758209048 CA2737192	34	Q>R		No	ClinGen ExAC gnomAD
rs1218745838 CA355479836	35	E>*		No	ClinGen gnomAD
rs1307870528 CA355479817	38	K>E		No	ClinGen gnomAD
rs1428660882 CA355479814	38	K>R		No	ClinGen TOPMed
rs1223288196 CA355479807	39	E>A		No	ClinGen gnomAD
TCGA novel	40	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355479790 rs1371189258	41	L>P		No	ClinGen gnomAD
CA355479780 rs1285441994	43	A>S		No	ClinGen gnomAD
rs1365372496 CA355479760	46	E>G		No	ClinGen gnomAD
CA355479762 rs1405722194	46	E>K		No	ClinGen gnomAD
CA2737189 rs761509690	47	E>G		No	ClinGen ExAC gnomAD
CA2737190 rs375537906	47	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355479745 rs1157823947	48	G>E		No	ClinGen gnomAD
CA2737188 rs565130177	48	G>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	50	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1344141635 CA355479732	51	E>*		No	ClinGen TOPMed
rs1430722639 CA355479723	52	P>A		No	ClinGen gnomAD
CA355479719 rs1199724482	52	P>L		No	ClinGen gnomAD
CA2737187 rs763664873	53	A>V		No	ClinGen ExAC gnomAD
CA2737186 rs760311121	54	L>F		No	ClinGen ExAC TOPMed gnomAD
CA355479689 rs1291021737	58	G>C		No	ClinGen TOPMed
rs772517696 CA2737184	59	A>S		No	ClinGen ExAC TOPMed gnomAD
rs760088196 CA2737183	59	A>V		No	ClinGen ExAC gnomAD
CA2737182 rs774519584	60	R>K		No	ClinGen ExAC
rs1577592110 CA355479672	61	A>P		No	ClinGen Ensembl
rs1265036112 CA355479668	61	A>V		No	ClinGen TOPMed gnomAD
CA355479662 rs1345099895	62	L>F		No	ClinGen gnomAD
rs143403320 CA2737181	62	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355479656 rs1281843836	63	A>V		No	ClinGen gnomAD
CA355479655 rs1465172266	64	A>T		No	ClinGen gnomAD
rs10937187 CA2737180	66	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs6770319 CA2737178	67	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA89560169 rs1020129031	67	L>W		No	ClinGen TOPMed
CA89560167 rs1012766344	68	A>T		No	ClinGen TOPMed
CA2737177 rs368222716	70	R>P		No	ClinGen ExAC gnomAD
rs1288812901 CA355479619	70	R>S		No	ClinGen gnomAD
rs574803114 CA2737176	71	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1469020523 CA355479611	71	R>M		No	ClinGen gnomAD
rs758212478 CA2737175	71	R>S		No	ClinGen ExAC gnomAD
rs375874894 CA2737174	72	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA355479603 rs1428909455	73	Y>H		No	ClinGen gnomAD
CA355479594 rs1184738422	74	R>C		No	ClinGen gnomAD
TCGA novel	75	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355479588 rs1245097964	75	R>Q		No	ClinGen gnomAD
rs753516762 CA2737171	76	L>P		No	ClinGen ExAC gnomAD
CA355479567 rs1323182729	79	T>A		No	ClinGen gnomAD
CA2737170 rs763896480 COSM1537232	79	T>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1577592015 CA355479558	80	V>G		No	ClinGen Ensembl
CA355479555 rs1308472213	81	A>E		No	ClinGen gnomAD
CA355479554 rs1308472213	81	A>G		No	ClinGen gnomAD
rs371857281 CA89560097	81	A>T		No	ClinGen ESP TOPMed
CA355479548 rs1577592010	82	E>G		No	ClinGen Ensembl
CA355479543 rs1577592006	83	L>V		No	ClinGen Ensembl
rs1577592003 CA355479532	84	V>G		No	ClinGen Ensembl
rs1295254169 CA355479522	86	F>L		No	ClinGen gnomAD
rs1018183993 CA355479517	86	F>L		No	ClinGen TOPMed gnomAD
CA89560091 rs879204214	87	L>F		No	ClinGen Ensembl
CA2737169 rs755644933	91	D>E		No	ClinGen ExAC gnomAD
CA89560065 rs897158555	92	K>E		No	ClinGen Ensembl
CA355479478 rs1336894217	92	K>N		No	ClinGen gnomAD
rs34540780 CA2737168 VAR_057651	93	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs767064094 CA2737167	95	S>C		No	ClinGen ExAC gnomAD
CA355479448 rs1462140415	97	I>V		No	ClinGen gnomAD
CA2737165 rs759909230	98	T>P		No	ClinGen ExAC gnomAD
rs774882318 CA2737164	99	R>C		No	ClinGen ExAC gnomAD
CA355479429 rs763369327	100	S>L		No	ClinGen ExAC
CA2737163 rs766711456	100	S>P		No	ClinGen ExAC TOPMed gnomAD
CA2737162 rs763369327	100	S>W		No	ClinGen ExAC
CA2737161 rs773422260	103	V>M		No	ClinGen ExAC gnomAD
rs1197811820 CA355479390	106	V>I		No	ClinGen gnomAD
CA355479383 rs1481064523	107	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA89559990 rs887635344	108	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA355479369 rs1366006572	109	D>A		No	ClinGen TOPMed
rs1560133377 CA355479370	109	D>Y		No	ClinGen Ensembl
CA2737157 rs768814266	110	L>V		No	ClinGen ExAC gnomAD
CA2737155 rs745759698	114	F>L		No	ClinGen ExAC TOPMed gnomAD
CA355479328 rs1338221014	115	P>L		No	ClinGen TOPMed gnomAD
rs757104302 CA2737152	116	D>G		No	ClinGen ExAC
CA2737148 rs11554279	119	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2737149 rs11554279	119	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs766894976 CA2737146	120	R>G		No	ClinGen ExAC gnomAD
CA355479286 rs1162877529	122	A>S		No	ClinGen TOPMed gnomAD
rs1162877529 CA355479288	122	A>T		No	ClinGen TOPMed gnomAD
CA2737145 rs146947260	123	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs752051040 CA2737144	124	H>R		No	ClinGen ExAC gnomAD
CA355479273 rs1281280259	124	H>Y		No	ClinGen gnomAD
rs766942431 COSM582787 CA2737143	126	R>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs766942431 CA355479261	126	R>Q		No	ClinGen ExAC gnomAD
CA355479253 rs1250087330	127	Y>*		No	ClinGen gnomAD
rs763458760 CA2737142	127	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1577591831 CA355479258	127	Y>H		No	ClinGen Ensembl
rs577149243 CA2737140	128	V>G		No	ClinGen 1000Genomes ExAC gnomAD
rs201193072 CA2737137	132	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs201193072 CA2737136	132	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA89559850 rs923012440	133	L>P		No	ClinGen Ensembl
rs1471847444 CA355479192	136	F>L		No	ClinGen TOPMed
CA355479183 rs1280837974	138	R>G		No	ClinGen gnomAD
rs202074775 CA2737135	138	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1286089135 CA355479176	139	K>Q		No	ClinGen TOPMed gnomAD
rs200385000 CA2737134	139	K>R		No	ClinGen ExAC TOPMed gnomAD
CA89559822 rs935036490	141	H>Y		No	ClinGen TOPMed gnomAD
TCGA novel CA89559804 rs923601244	143	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA2737133 rs774425941	144	I>F		No	ClinGen ExAC gnomAD
rs777659538 CA2737130	148	K>R		No	ClinGen ExAC gnomAD
rs1313093368 CA355479106	149	L>P		No	ClinGen TOPMed
CA355479101 rs1349642371	150	K>R		No	ClinGen TOPMed
rs780958839 CA2737127	153	E>G		No	ClinGen ExAC gnomAD
TCGA novel	153	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754446378 CA2737126	154	E>V		No	ClinGen ExAC
CA355479069 rs1289805596	155	E>G		No	ClinGen TOPMed
CA2737125 rs751008573	155	E>Q		No	ClinGen ExAC gnomAD
RCV000454382 rs34995413	157	E>missing		No	ClinVar dbSNP
TCGA novel	158	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867016939 CA89559659	159	D>E		No	ClinGen Ensembl
rs779553895 CA2737122	159	D>N		No	ClinGen ExAC
TCGA novel	160	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1286964734 CA355479014	163	D>G		No	ClinGen gnomAD
CA355479017 rs1309905941	163	D>H		No	ClinGen gnomAD
CA2737115 rs758854881	164	G>A		No	ClinGen ExAC TOPMed gnomAD
CA89559647 rs758854881	164	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1206183240 CA355479009	164	G>S		No	ClinGen gnomAD
rs151188287 CA2737114	166	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs968250762 CA89559627	168	G>A		No	ClinGen Ensembl
CA2737113 rs765490574	170	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1323780706 CA355478960	172	M>L		No	ClinGen gnomAD
CA355478941 rs1437041570	175	G>S		No	ClinGen gnomAD
rs1379461775 CA355478926	177	I>T		No	ClinGen TOPMed
CA89559620 rs981484068	177	I>V		No	ClinGen TOPMed
rs762284879 CA2737112	178	Y>C		No	ClinGen ExAC gnomAD
rs916751074 CA89559609	179	M>T		No	ClinGen TOPMed gnomAD
rs1327918154 CA355478916	179	M>V		No	ClinGen gnomAD
CA2737111 rs147979724	180	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA89559590 rs1020477072	181	G>D		No	ClinGen TOPMed
CA355478900 rs1381536639	181	G>S		No	ClinGen TOPMed gnomAD
rs764442852 CA2737109	182	N>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA355478894 rs1471110774	182	N>S		No	ClinGen gnomAD
CA355478885 rs1309650392	183	S>I		No	ClinGen TOPMed
CA355478884 rs1476005771	183	S>R		No	ClinGen TOPMed gnomAD
rs760982192 CA2737108	184	A>G		No	ClinGen ExAC gnomAD
CA355478880 rs1430235351	184	A>S		No	ClinGen gnomAD
rs767924925 CA2737107	184	A>SLML*		No	ClinGen ExAC
rs1477253919 CA355478876	185	R>G		No	ClinGen gnomAD
rs775649028 CA2737105	185	R>K		No	ClinGen ExAC gnomAD
rs772296840 CA2737103	187	A>P		No	ClinGen ExAC gnomAD
rs1298811061 CA355478859	187	A>V		No	ClinGen TOPMed
rs762940453 CA2737102	188	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA89559521 rs1035151989	188	Q>K		No	ClinGen Ensembl
rs769465090 CA2737100	194	R>H		No	ClinGen ExAC gnomAD
rs769465090 CA2737101	194	R>L		No	ClinGen ExAC gnomAD
rs769465090 CA355478812	194	R>P		No	ClinGen ExAC gnomAD
CA2737098 rs780857996	195	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2737099 rs80099294	195	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355478800 rs1341247212	197	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	197	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1577591568 CA355478791	198	V>G		No	ClinGen Ensembl
TCGA novel	198	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779500783 CA2737095	198	V>L		No	ClinGen ExAC gnomAD
rs757945790 CA2737094	200	P>S		No	ClinGen ExAC gnomAD
rs750909142 CA2737093	201	S>L		No	ClinGen ExAC gnomAD
rs757556610 CA2737091	202	K>R		No	ClinGen ExAC gnomAD
CA355478760 rs1406850024	203	Y>F		No	ClinGen TOPMed gnomAD
CA355478762 rs1406850024	203	Y>S		No	ClinGen TOPMed gnomAD
rs1333787043 CA355478757	204	H>N		No	ClinGen TOPMed gnomAD
CA2737090 rs754163998	204	H>R		No	ClinGen ExAC TOPMed gnomAD
CA355478755 rs1333787043	204	H>Y		No	ClinGen TOPMed gnomAD
rs764379900 CA89559466	206	L>F		No	ClinGen ExAC TOPMed gnomAD
rs764379900 CA2737089	206	L>V		No	ClinGen ExAC TOPMed gnomAD
rs371081154 CA2737088	207	F>L		No	ClinGen ESP ExAC gnomAD
CA2737087 rs368342269	208	G>R		No	ClinGen ESP ExAC TOPMed
TCGA novel	209	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767670827 CA2737085	209	Y>C		No	ClinGen ExAC gnomAD
CA2737084 rs759737254	210	P>Q		No	ClinGen ExAC gnomAD
rs1185902083 CA355478717	210	P>S		No	ClinGen TOPMed gnomAD
CA355478710 rs1435579089	211	K>R		No	ClinGen TOPMed
rs566045160 CA2737083	212	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs374571592 CA2737082	213	L>F		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA2737081 rs374571592	213	L>V		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs538945930 CA2737079	214	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs749553715 CA89559428	214	I>T		No	ClinGen Ensembl
CA2737077 rs768471927	215	M>I		No	ClinGen ExAC
rs371539497 CA89559423	215	M>T		No	ClinGen ESP TOPMed
CA89559424 rs887666171	215	M>V		No	ClinGen TOPMed
rs199859036 CA2737075	217	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA89559389 rs995986159	218	F>I		No	ClinGen gnomAD
COSM1042106 CA355478669 rs995986159	218	F>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs779732435 CA2737074	222	R>L		No	ClinGen ExAC gnomAD
rs1296271391 CA355478633	223	Y>C		No	ClinGen TOPMed
rs1283647266 CA355478619	225	S>N		No	ClinGen TOPMed gnomAD
CA355478606 rs1446154123	227	R>W		No	ClinGen gnomAD
CA355478599 rs1330053613	228	R>Q		No	ClinGen gnomAD
rs745449743 CA2737072	228	R>W		No	ClinGen ExAC gnomAD
rs778289561 CA2737071	229	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1231276425 CA355478596	229	V>M		No	ClinGen TOPMed
rs757724592 CA2737070	230	P>A		No	ClinGen ExAC gnomAD
rs757724592 CA355478588	230	P>T		No	ClinGen ExAC gnomAD
CA355478582 rs1577591420	231	H>P		No	ClinGen Ensembl
CA89559342 rs935068221	231	H>Y		No	ClinGen Ensembl
CA89559326 rs902211424	232	T>A		No	ClinGen Ensembl
CA2737069 rs749776778	232	T>S		No	ClinGen ExAC TOPMed gnomAD
CA2737068 rs778155185	233	N>D		No	ClinGen ExAC gnomAD
rs148701170 CA2737067	233	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2737066 rs752942757	234	P>T		No	ClinGen ExAC gnomAD
CA89559313 rs374332816	235	P>Q		No	ClinGen Ensembl
CA2737064 rs9872799	236	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376034192 CA355478552	236	E>D		No	ClinGen ESP ExAC TOPMed
CA2737065 rs111926609	236	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs17845253 CA2737062	237	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA89559261 rs17845253	237	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs374423708 CA2737061	239	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1223192178 CA355478532	239	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2737060 rs549112244	240	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA2737059 rs763856882	242	G>S		No	ClinGen ExAC TOPMed gnomAD
CA355478504 rs1190424423	244	R>*		No	ClinGen TOPMed
rs895320516 CA89559213	246	N>S		No	ClinGen TOPMed gnomAD
COSM312706 CA89559208 rs1055277583	247	L>V	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs139470690 CA2737058	252	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1351219784 CA355478433	254	V>L		No	ClinGen TOPMed
CA355478423 rs1425908752	256	G>R		No	ClinGen TOPMed gnomAD
CA355478403 rs1163207142	259	A>T		No	ClinGen gnomAD
rs1401947617 CA355478400	259	A>V		No	ClinGen gnomAD
rs1298955921 CA355478387	261	L>Q		No	ClinGen TOPMed
rs1042624778 CA355478381	262	H>P		No	ClinGen TOPMed gnomAD
rs1042624778 CA89559163	262	H>R		No	ClinGen TOPMed gnomAD
rs745516353 CA2737055	263	K>E		No	ClinGen ExAC gnomAD
rs1471390321 CA355478373	263	K>M		No	ClinGen TOPMed gnomAD
CA2737054 rs527645187	266	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA2737053 rs770378547	269	W>*		No	ClinGen ExAC gnomAD
rs1488155192 CA355478332	269	W>R		No	ClinGen gnomAD
rs749770823 CA2737052	270	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1228066335 CA355478311	272	Q>R		No	ClinGen gnomAD
CA2737049 rs748459494	273	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781700931 CA355478299	274	R>C		No	ClinGen ExAC TOPMed gnomAD
rs781700931 CA2737048	274	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2737047 rs376434089	274	R>H		No	ClinGen ExAC TOPMed gnomAD
CA355478295 rs1292311058	275	E>K		No	ClinGen gnomAD
CA89559101 rs200286445	276	A>G		No	ClinGen TOPMed gnomAD
rs751765302 CA2737046	276	A>T		No	ClinGen ExAC gnomAD
CA355478273 rs1430970887	278	A>V		No	ClinGen gnomAD
CA355478268 rs1472444954	279	D>V		No	ClinGen TOPMed
rs1422748651 CA355478259	280	E>D		No	ClinGen gnomAD
CA355478264 rs753803347	280	E>K		No	ClinGen ExAC gnomAD
CA2737043 rs753803347	280	E>Q		No	ClinGen ExAC gnomAD
rs767318629 CA2737039	282	D>G		No	ClinGen ExAC gnomAD
rs775205261 CA2737040	282	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1577591204 CA355478245	283	R>G		No	ClinGen Ensembl
TCGA novel	283	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355478228 rs1424239011	285	R>T		No	ClinGen TOPMed
rs1463544090 CA355478225	286	A>T		No	ClinGen gnomAD
rs139751187 CA2737037	287	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs201868429 CA2737035	288	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	290	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1216882750 CA355478200	290	A>T		No	ClinGen gnomAD
CA355478190 rs1319381558	291	E>G		No	ClinGen gnomAD
rs1439304435 CA355478180	293	S>R		No	ClinGen gnomAD
rs1577591161 CA355478164	294	M>I		No	ClinGen Ensembl
rs1465203694 CA355478161	295	R>K		No	ClinGen TOPMed gnomAD
CA2737030 rs748688440	295	R>W		No	ClinGen ExAC TOPMed gnomAD
CA355478153 rs1577591142	296	A>G		No	ClinGen Ensembl
CA2737029 rs372926340	296	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	296	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA89558961 rs994093983	298	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs768945794 CA2737027	300	A>T		No	ClinGen ExAC gnomAD
CA2737025 rs780201885	301	R>G		No	ClinGen ExAC TOPMed gnomAD
rs865831994 CA89558917	303	G>D		No	ClinGen Ensembl
TCGA novel	305	H>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2737023 rs750433598	305	H>L		No	ClinGen ExAC TOPMed gnomAD
CA2737022 rs150675401	307	W>S		No	ClinGen ESP ExAC gnomAD

No associated diseases with Q9HAY2

1 regional properties for Q9HAY2

Type	Name	Position	InterPro Accession
domain	MAGE homology domain	76 - 276	IPR002190

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
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.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

5 GO annotations of biological process

Name	Definition
negative regulation of double-strand break repair via homologous recombination	Any process that stops, prevents, or reduces the frequency, rate or extent of double-strand break repair via homologous recombination.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
positive regulation of ubiquitin-dependent protein catabolic process	Any process that activates or increases the frequency, rate or extent of ubiquitin-dependent protein catabolic process.
protein maturation by iron-sulfur cluster transfer	The transfer of an assembled iron-sulfur cluster from a scaffold protein to an acceptor protein that contributes to the attainment of the full functional capacity of a protein.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.

17 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P43356	MAGEA2B	Melanoma-associated antigen 2	Homo sapiens (Human)	PR
O15479	MAGEB2	Melanoma-associated antigen B2	Homo sapiens (Human)	PR
O15480	MAGEB3	Melanoma-associated antigen B3	Homo sapiens (Human)	PR
P43355	MAGEA1	Melanoma-associated antigen 1	Homo sapiens (Human)	PR
P43357	MAGEA3	Melanoma-associated antigen 3	Homo sapiens (Human)	PR
P43358	MAGEA4	Melanoma-associated antigen 4	Homo sapiens (Human)	PR
P43360	MAGEA6	Melanoma-associated antigen 6	Homo sapiens (Human)	PR
P43361	MAGEA8	Melanoma-associated antigen 8	Homo sapiens (Human)	PR
P43363	MAGEA10	Melanoma-associated antigen 10	Homo sapiens (Human)	PR
P43365	MAGEA12	Melanoma-associated antigen 12	Homo sapiens (Human)	PR
Q8TD90	MAGEE2	Melanoma-associated antigen E2	Homo sapiens (Human)	PR
Q96MG7	NSMCE3	Non-structural maintenance of chromosomes element 3 homolog	Homo sapiens (Human)	PR
Q9BZ81	MAGEB5	Melanoma-associated antigen B5	Homo sapiens (Human)	PR
P43364	MAGEA11	Melanoma-associated antigen 11	Homo sapiens (Human)	PR
Q9UNF1	MAGED2	Melanoma-associated antigen D2	Homo sapiens (Human)	PR
Q9Y5V3	MAGED1	Melanoma-associated antigen D1	Homo sapiens (Human)	PR
Q96JG8	MAGED4B	Melanoma-associated antigen D4	Homo sapiens (Human)	PR

10	20	30	40	50	60
MLQTPESRGL	PVPQAEGEKD	GGHDGETRAP	TASQERPKEE	LGAGREEGAA	EPALTRKGAR
70	80	90	100	110	120
ALAAKALARR	RAYRRLNRTV	AELVQFLLVK	DKKKSPITRS	EMVKYVIGDL	KILFPDIIAR
130	140	150	160	170	180
AAEHLRYVFG	FELKQFDRKH	HTYILINKLK	PLEEEEEEDL	GGDGPRLGLL	MMILGLIYMR
190	200	210	220	230	240
GNSAREAQVW	EMLRRLGVQP	SKYHFLFGYP	KRLIMEDFVQ	QRYLSYRRVP	HTNPPEYEFS
250	260	270	280	290	300
WGPRSNLEIS	KMEVLGFVAK	LHKKEPQHWP	VQYREALADE	ADRARAKARA	EASMRARASA

RAGIHLW