AiPD: Autoinhibited Protein Database

O76021

Gene name	RSL1D1
Protein name	Ribosomal L1 domain-containing protein 1
Names	CATX-11, Cellular senescence-inhibited gene protein, Protein PBK1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26156
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-49 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-49 (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

21 structures for O76021

Entry ID	Method	Resolution	Chain	Position	Source
8FKP	EM	285 A	SL	1-490	PDB
8FKQ	EM	276 A	SL	1-490	PDB
8FKR	EM	289 A	SL	1-490	PDB
8FKS	EM	288 A	SL	1-490	PDB
8FKT	EM	281 A	SL	1-490	PDB
8FKU	EM	282 A	SL	1-490	PDB
8FKV	EM	247 A	SL	1-490	PDB
8FKW	EM	250 A	SL	1-490	PDB
8FKX	EM	259 A	SL	1-490	PDB
8FKY	EM	267 A	SL	1-490	PDB
8FKZ	EM	304 A	SL	1-490	PDB
8FL2	EM	267 A	SL	1-490	PDB
8FL6	EM	262 A	SL	1-490	PDB
8FLA	EM	263 A	SL	1-490	PDB
8FLD	EM	258 A	SL	1-490	PDB
8INE	EM	320 A	u	1-490	PDB
8INF	EM	300 A	u	1-490	PDB
8IPX	EM	430 A	N	1-490	PDB
8IPY	EM	320 A	c	1-490	PDB
8IR3	EM	350 A	s	1-490	PDB
AF-O76021-F1	Predicted				AlphaFoldDB

525 variants for O76021

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs539844180 CA7906764	2	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA394785532 rs143548257	3	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs143548257 CA7906763	3	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1421329281 CA394785525	4	S>P		No	ClinGen gnomAD
rs1002488843 CA278335138	4	S>W		No	ClinGen gnomAD
rs747192118 CA7906761	5	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1187172359 CA394785508 COSM1375833	5	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA278335121 rs371371503	6	S>A		No	ClinGen ESP TOPMed gnomAD
rs771991413 CA7906759 COSM1264622	6	S>L	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA394785503 rs371371503	6	S>P		No	ClinGen ESP TOPMed gnomAD
rs771991413 CA394785500	6	S>W		No	ClinGen ExAC TOPMed gnomAD
rs150419519 CA7906754	7	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7906756 rs749840142	7	A>P		No	ClinGen ExAC TOPMed gnomAD
CA7906755 rs749840142	7	A>S		No	ClinGen ExAC TOPMed gnomAD
CA394785492 rs749840142	7	A>T		No	ClinGen ExAC TOPMed gnomAD
rs150419519 CA7906753	7	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766501222 CA278335108	8	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs766501222 CA7906750	8	S>L		No	ClinGen ExAC TOPMed gnomAD
rs766501222 CA7906751	8	S>W		No	ClinGen ExAC TOPMed gnomAD
CA394785469 rs1445366018	9	L>P		No	ClinGen gnomAD
rs766024466 CA7906747	10	S>F		No	ClinGen ExAC TOPMed gnomAD
CA394785463 rs1243894136	10	S>P		No	ClinGen TOPMed
CA7906746 rs762972539	11	S>A		No	ClinGen ExAC TOPMed gnomAD
rs73509779 CA7906745	11	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762972539 CA394785456	11	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1414704572 CA394785445	12	A>S		No	ClinGen gnomAD
rs1187729646 CA394785437	12	A>V		No	ClinGen TOPMed
CA394785431 rs1162665785	13	A>S		No	ClinGen gnomAD
rs775530030 CA7906742	15	T>A		No	ClinGen ExAC gnomAD
CA394785406 rs1179464797	15	T>I		No	ClinGen TOPMed gnomAD
rs775530030 CA278335078	15	T>P		No	ClinGen ExAC gnomAD
CA394785408 rs1179464797	15	T>S		No	ClinGen TOPMed gnomAD
rs944226446 CA278335059	16	G>E		No	ClinGen TOPMed
CA7906740 rs370779685	16	G>R		No	ClinGen ESP ExAC TOPMed
CA7906739 rs774394610	17	T>P		No	ClinGen ExAC gnomAD
rs771054511 CA7906738	18	S>P		No	ClinGen ExAC TOPMed gnomAD
CA394785377 rs1288545108	18	S>Y		No	ClinGen gnomAD
rs376117132 CA7906736	19	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA7906735 rs769991674	19	T>I		No	ClinGen ExAC gnomAD
CA394785368 rs376117132	19	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7906733 rs780668032	20	S>L		No	ClinGen ExAC gnomAD
CA394785350 rs1327660762	21	T>P		No	ClinGen gnomAD
rs1349170935 CA394785328	23	A>V		No	ClinGen gnomAD
CA7906731 rs751303636	24	A>S		No	ClinGen ExAC TOPMed gnomAD
CA394785311 rs1314437233	25	P>Q		No	ClinGen TOPMed
rs1314437233 CA394785309	25	P>R		No	ClinGen TOPMed
rs779708213 CA7906730	25	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1343033328 CA394785297	26	T>I		No	ClinGen TOPMed
CA7906728 rs750329833	27	A>V		No	ClinGen ExAC gnomAD
CA278335001 rs373118627	28	R>W		No	ClinGen ESP TOPMed gnomAD
rs765246902 CA7906727	29	K>N		No	ClinGen ExAC gnomAD
CA7906725 rs370891673	31	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1338441812 CA394785227	32	D>V		No	ClinGen TOPMed
CA278334986 rs946336526	33	K>E		No	ClinGen Ensembl
rs896379022 CA278334985	34	E>K		No	ClinGen TOPMed gnomAD
CA394785207 rs896379022	34	E>Q		No	ClinGen TOPMed gnomAD
rs763847816 CA7906724	35	Q>R		No	ClinGen ExAC
rs188082951 CA7906699	37	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1279681497 CA394785004	37	R>S		No	ClinGen gnomAD
CA394784975 rs1596443745	40	V>M		No	ClinGen Ensembl
CA394784948 rs769085403	42	A>P		No	ClinGen ExAC TOPMed gnomAD
CA7906696 rs769085403	42	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7906695 rs191076139	43	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs369583738 CA7906693 COSM1375832	45	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs145024771 CA7906690	46	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145024771 CA7906691	46	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151124222 CA7906689	47	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs141427001 CA278334399	47	C>Y		No	ClinGen ESP TOPMed gnomAD
CA394784876 rs1245549821	48	K>E		No	ClinGen gnomAD
CA394784851 rs1321380919	50	R>G		No	ClinGen TOPMed gnomAD
CA394784849 rs1313237482	50	R>M		No	ClinGen gnomAD
CA278334394 CA394784844 rs11554651	50	R>S		No	ClinGen gnomAD
rs1378202749 CA394784839	51	K>E		No	ClinGen gnomAD
rs1212617286 CA394784831	51	K>N		No	ClinGen TOPMed
CA278334392 rs913361521	51	K>R		No	ClinGen TOPMed
CA7906688 rs777581141	52	N>S		No	ClinGen ExAC TOPMed gnomAD
CA394784782 rs1596443715	55	G>R		No	ClinGen Ensembl
rs11554654 CA278334382	57	L>F		No	ClinGen Ensembl
rs752519216 CA7906686	58	L>F		No	ClinGen ExAC gnomAD
CA7906685 rs767340950	60	E>K		No	ClinGen ExAC TOPMed gnomAD
rs376365551 CA7906684	61	N>S		No	ClinGen ExAC TOPMed gnomAD
CA394784708 rs1160472028	62	E>D		No	ClinGen gnomAD
CA394784710 rs1366175824	62	E>G		No	ClinGen gnomAD
CA394784702 rs1447851482	63	S>T		No	ClinGen TOPMed
CA394784695 rs1289977795	64	L>S		No	ClinGen TOPMed
rs1442881895 CA394784681	65	F>S		No	ClinGen gnomAD
rs1439913023 CA394784665	66	L>F		No	ClinGen TOPMed gnomAD
rs765296021 CA7906682	67	M>I		No	ClinGen ExAC gnomAD
rs933832558 CA278334375	67	M>V		No	ClinGen TOPMed gnomAD
CA7906681 rs559686696	68	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs764730312 CA7906679	69	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7906678 rs761309105	73	I>T		No	ClinGen ExAC gnomAD
rs1461709849 CA394784572	73	I>V		No	ClinGen TOPMed gnomAD
CA7906677 rs148972543	74	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA278334365 rs936016590	75	S>G		No	ClinGen Ensembl
CA394784539 rs1243801550	76	K>E		No	ClinGen TOPMed
CA394784526 rs1354611739	77	E>Q		No	ClinGen gnomAD
rs1237291371 CA394784510	78	L>M		No	ClinGen gnomAD
CA394784507 rs1213364064	78	L>P		No	ClinGen gnomAD
TCGA novel	78	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394784505 rs1446110802	79	R>G		No	ClinGen gnomAD
rs1333163542 CA394784503	79	R>T		No	ClinGen gnomAD
rs1014655808 CA278334362	80	V>I		No	ClinGen TOPMed gnomAD
CA394784488 rs1284562985	81	R>S		No	ClinGen gnomAD
CA394783501 rs1200184585	83	T>A		No	ClinGen gnomAD
rs145825313 CA7906641	83	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1316820403 CA394783479	86	H>L		No	ClinGen TOPMed gnomAD
CA394783480 rs1316820403	86	H>R		No	ClinGen TOPMed gnomAD
rs753194199 CA7906639	87	S>R		No	ClinGen ExAC gnomAD
rs768157897 CA7906638	88	I>V		No	ClinGen ExAC gnomAD
rs371152221 CA7906637	89	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs766814935 CA394783462	89	R>L		No	ClinGen ExAC gnomAD
CA7906635 rs766814935	89	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA394783447 rs1363957621	91	D>E		No	ClinGen TOPMed
rs746918445 CA7906633	93	E>K		No	ClinGen ExAC gnomAD
rs769226635 CA7906632	94	D>G		No	ClinGen ExAC gnomAD
CA7906631 rs374380969	95	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA278332736 rs368603219	95	I>V		No	ClinGen ESP TOPMed gnomAD
CA394783417 rs1457148873	96	C>S		No	ClinGen TOPMed
rs768448947 CA7906629	98	F>C		No	ClinGen ExAC gnomAD
CA7906628 rs11554650	99	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1581616 rs140412007 CA7906625	101	D>G	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs771973546 CA278332729	101	D>H		No	ClinGen ExAC gnomAD
rs771973546 CA7906626	101	D>N		No	ClinGen ExAC gnomAD
rs1343898608 CA394783368	103	P>L		No	ClinGen Ensembl
rs147137542 CA394783363	104	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs147137542 CA7906624	104	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7906623 rs756209621	106	T>I		No	ClinGen ExAC gnomAD
CA7906622 rs565915059	107	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs974783081 CA394783344	108	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs974783081 CA278332721	108	E>Q		No	ClinGen gnomAD
TCGA novel	109	K>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA278332716 rs868836371	109	K>E		No	ClinGen Ensembl
rs755416530 CA394783329	110	T>A		No	ClinGen ExAC gnomAD
CA7906620 rs755416530	110	T>S		No	ClinGen ExAC gnomAD
rs1445968726 CA394783320	111	E>V		No	ClinGen gnomAD
rs766648699 CA7906618	112	Q>*		No	ClinGen ExAC gnomAD
rs1267772814 COSM257924 CA394783304	113	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA7906616 rs750030288	114	Y>C		No	ClinGen ExAC
CA7906614 rs761495746	115	R>G		No	ClinGen ExAC gnomAD
CA394783289 rs1596442616	116	K>Q		No	ClinGen Ensembl
rs776099044 CA7906613	116	K>R		No	ClinGen ExAC gnomAD
CA7906611 rs760528378	119	N>K		No	ClinGen ExAC gnomAD
rs1179601237 CA394783266	119	N>S		No	ClinGen gnomAD
TCGA novel	120	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7906610 rs775506729	120	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs549380785 CA7906609	120	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA394783252 rs1204518827	121	H>R		No	ClinGen TOPMed gnomAD
TCGA novel	121	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394783248 rs1308588400	122	G>R		No	ClinGen gnomAD
rs887785400 CA278332640	123	I>V		No	ClinGen TOPMed gnomAD
CA7906608 rs745676801	125	T>I		No	ClinGen ExAC TOPMed gnomAD
rs755149935 CA7906603	126	V>A		No	ClinGen ExAC gnomAD
rs781117638 CA7906605	126	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781117638 CA7906604	126	V>L		No	ClinGen ExAC TOPMed gnomAD
rs372100276 CA278332616	127	S>P		No	ClinGen ESP TOPMed
CA394783213 rs1239106212	128	Q>*		No	ClinGen gnomAD
CA394783211 rs1370867456	128	Q>R		No	ClinGen TOPMed gnomAD
rs1220380913 CA394783194	129	I>F		No	ClinGen gnomAD
CA7906564 rs570052197	129	I>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1278854963 CA394783185	130	I>M		No	ClinGen gnomAD
rs951447411 CA278331963	130	I>V		No	ClinGen TOPMed
CA7906563 rs202035330	131	S>C		No	ClinGen ExAC TOPMed gnomAD
CA394783177 rs1304989756	132	L>F		No	ClinGen gnomAD
rs1405776973 CA394783166	133	Q>H		No	ClinGen gnomAD
CA394783145 rs1423726467	136	K>*		No	ClinGen gnomAD
CA394783125 rs1422655022	137	K>N		No	ClinGen TOPMed
rs752185346 CA278331948	137	K>T		No	ClinGen Ensembl
CA278331945 rs968261322	139	Y>C		No	ClinGen TOPMed gnomAD
CA394783087 rs1182064472	140	K>E		No	ClinGen gnomAD
CA7906557 rs778035648	141	S>P		No	ClinGen ExAC TOPMed gnomAD
rs752346562 CA7906555	142	Y>C		No	ClinGen ExAC gnomAD
CA7906556 rs755767319	142	Y>D		No	ClinGen ExAC gnomAD
rs752346562 CA394783060	142	Y>F		No	ClinGen ExAC gnomAD
CA394783065 rs755767319	142	Y>N		No	ClinGen ExAC gnomAD
COSM1478501 CA7906554 rs780843348	143	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA278331927 rs572206422	144	A>S		No	ClinGen Ensembl
rs1166899441 CA394783032	144	A>V		No	ClinGen TOPMed
rs751483507 CA7906552	146	L>F		No	ClinGen ExAC TOPMed gnomAD
rs766440340 CA7906551	146	L>P		No	ClinGen ExAC TOPMed gnomAD
CA7906550 rs778990926	147	R>C		No	ClinGen ExAC TOPMed gnomAD
CA278331901 rs1008390295	147	R>H		No	ClinGen gnomAD
rs200869091 CA278331890	151	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7906549 rs200869091	151	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7906548 rs765001356	153	D>V		No	ClinGen ExAC TOPMed gnomAD
CA7906546 rs570965386	157	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7906545 rs570965386	157	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774802949 CA7906544	160	R>K		No	ClinGen ExAC gnomAD
rs774802949 CA7906543	160	R>T		No	ClinGen ExAC gnomAD
CA394782805 rs1165128625	163	R>Q		No	ClinGen TOPMed gnomAD
CA7906542 rs145073718	163	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA394782792 rs1567420667	164	L>P		No	ClinGen Ensembl
TCGA novel	166	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA278331856 rs200278405	166	P>S		No	ClinGen 1000Genomes gnomAD
rs770120854 CA7906539	168	L>F		No	ClinGen ExAC gnomAD
CA7906538 rs190507889	169	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781004547 CA7906537	170	G>R		No	ClinGen ExAC gnomAD
rs1479730495 CA394782701	172	H>Q		No	ClinGen gnomAD
rs374820045 CA7906536	173	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA394782682 rs1451666326	173	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7906535 rs374820045	173	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	174	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1187081190 CA394782673	174	Y>F		No	ClinGen TOPMed
rs779759579 CA7906534	174	Y>H		No	ClinGen ExAC gnomAD
CA394782646 rs1358923998	176	R>K		No	ClinGen TOPMed gnomAD
CA7906533 rs758343904	177	K>E		No	ClinGen ExAC gnomAD
rs765018046 CA7906531	177	K>N		No	ClinGen ExAC gnomAD
CA7906532 rs139740294	177	K>R		No	ClinGen ESP ExAC gnomAD
rs1400220720 CA394782582	178	K>N		No	ClinGen gnomAD
CA7906530 rs757019222	178	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1414091104 CA394782563	180	P>S		No	ClinGen TOPMed
CA394782547 rs1156530165	181	V>A		No	ClinGen TOPMed gnomAD
rs1156530165 CA394782545	181	V>G		No	ClinGen TOPMed gnomAD
rs1467541779 CA394782541	182	S>P		No	ClinGen TOPMed gnomAD
rs141960183 CA7906514	183	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141960183 CA7906515	183	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs917864057 CA278331658	186	L>V		No	ClinGen Ensembl
CA7906512 rs778741182	188	K>Q		No	ClinGen ExAC gnomAD
rs753603543 CA7906510	190	L>F		No	ClinGen ExAC TOPMed gnomAD
CA394782426 rs1196123806	191	S>*		No	ClinGen gnomAD
rs763922015 CA7906509	192	R>G		No	ClinGen ExAC gnomAD
rs755176572 CA7906508	192	R>T		No	ClinGen ExAC
rs1202510427 CA394782390	194	I>F		No	ClinGen gnomAD
rs766412267 CA394782382	194	I>M		No	ClinGen ExAC TOPMed gnomAD
CA394782392 rs1202510427	194	I>V		No	ClinGen gnomAD
CA7906505 rs370207662	195	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA7906504 rs150806637	195	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394782363 rs1260383631	196	D>A		No	ClinGen TOPMed gnomAD
TCGA novel	196	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141362993 CA7906503	197	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA7906502 rs762449799	198	I>L		No	ClinGen ExAC TOPMed gnomAD
CA394782333 rs1224257811	198	I>M		No	ClinGen TOPMed
rs777122349 CA7906501	199	G>D		No	ClinGen ExAC gnomAD
rs1490268343 CA394782317	200	G>E		No	ClinGen TOPMed
CA394782321 rs1245136726	200	G>R		No	ClinGen TOPMed
CA7906499 rs763358303	201	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7906500 rs769210119	201	T>S		No	ClinGen ExAC gnomAD
rs1336080392 CA394782299	202	V>L		No	ClinGen gnomAD
CA394782269 rs1471549732	204	N>K		No	ClinGen TOPMed
CA394782266 rs1427307323	205	I>F		No	ClinGen gnomAD
CA394782268 rs1427307323	205	I>L		No	ClinGen gnomAD
rs1008423170 CA278331599	205	I>S		No	ClinGen gnomAD
rs1008423170 CA394782265	205	I>T		No	ClinGen gnomAD
CA394782267 rs1427307323	205	I>V		No	ClinGen gnomAD
COSM434615 rs1475884724 CA394782257	206	S>F	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1018614361 CA278331596	207	K>R		No	ClinGen TOPMed
rs1372765925 CA394782248	208	S>G		No	ClinGen gnomAD
rs1381921015 CA394782245	208	S>T		No	ClinGen gnomAD
rs778529014 CA7906495	210	S>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	210	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394782226 rs1162436428	211	C>S		No	ClinGen TOPMed
rs770837799 CA7906494	211	C>W		No	ClinGen ExAC gnomAD
CA7906473 rs777699047	214	I>V		No	ClinGen ExAC TOPMed gnomAD
COSM1678838 CA394781872 rs1280119901	215	R>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA394781873 rs1280119901	215	R>G		No	ClinGen TOPMed gnomAD
rs373615839 CA7906472	215	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs373615839 CA7906471	215	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs758527687 CA7906469	216	I>T		No	ClinGen ExAC gnomAD
rs142034943 CA7906468 COSM1581615	217	G>A	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA278328386 rs757426918	218	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1327296007 CA394781840	218	H>R		No	ClinGen TOPMed
CA278328381 rs754350771	219	V>F		No	ClinGen ExAC TOPMed gnomAD
rs754350771 CA7906465	219	V>I		No	ClinGen ExAC TOPMed gnomAD
CA394781831 rs754350771	219	V>L		No	ClinGen ExAC TOPMed gnomAD
rs989375925 CA278328377	221	M>I		No	ClinGen Ensembl
CA394781734 rs1230702927	227	I>T		No	ClinGen gnomAD
CA394781737 rs1427121759	227	I>V		No	ClinGen TOPMed gnomAD
CA7906461 rs767988360	228	E>G		No	ClinGen ExAC TOPMed
rs1409525115 CA394781692	230	I>M		No	ClinGen TOPMed
CA394781703 rs1200326666	230	I>V		No	ClinGen gnomAD
CA394781684 rs1165209688	231	V>A		No	ClinGen TOPMed
rs759103071 CA7906460	231	V>I		No	ClinGen ExAC
rs1267799043 CA394781674	232	A>G		No	ClinGen gnomAD
rs773092363 CA7906456	236	G>E		No	ClinGen ExAC gnomAD
rs138914176 CA7906454	238	S>L		No	ClinGen ESP ExAC gnomAD
TCGA novel	240	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7906453 rs116984787	241	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs980793501 CA278328333	242	P>S		No	ClinGen Ensembl
rs768503583 CA7906452	243	E>A		No	ClinGen ExAC
rs771285854 CA278328320	243	E>D		No	ClinGen Ensembl
CA7906428 rs749576571	244	K>R		No	ClinGen ExAC TOPMed gnomAD
rs144965657 CA7906427	245	W>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1474337585 CA394781462	247	S>N		No	ClinGen gnomAD
rs141253595 CA278328221	247	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA278328211 rs900075713	248	V>L		No	ClinGen TOPMed gnomAD
CA278328217 rs900075713	248	V>M		No	ClinGen TOPMed gnomAD
rs748549088 CA7906425	249	K>N		No	ClinGen ExAC
CA394781438 rs1372927282	249	K>R		No	ClinGen TOPMed gnomAD
TCGA novel	250	L>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781735072 CA7906424	251	L>R		No	ClinGen ExAC gnomAD
rs1460777135 CA394781422	251	L>V		No	ClinGen gnomAD
rs201946179 CA278328191	252	F>Y		No	ClinGen 1000Genomes
rs751891304 CA7906422	256	E>D		No	ClinGen ExAC TOPMed gnomAD
CA394781141 rs1194817267	256	E>G		No	ClinGen gnomAD
rs1214194997 CA394781125	258	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs764594276 CA7906419	259	A>G		No	ClinGen ExAC TOPMed gnomAD
rs764594276 CA7906418	259	A>V		No	ClinGen ExAC TOPMed gnomAD
rs753676594 CA7906416	261	L>V		No	ClinGen ExAC gnomAD
rs368069170 CA394781087	263	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs372321124 CA7906415	263	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs375124578 CA7906413	264	F>Y		No	ClinGen ESP ExAC
rs1567418732 CA394781070	265	S>P		No	ClinGen Ensembl
CA7906412 rs376755771	266	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA394781055 rs376755771	266	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA278328142 rs777996745	267	F>L		No	ClinGen Ensembl
rs1386883407 CA394781044	267	F>S		No	ClinGen gnomAD
CA7906409 rs756545256	268	V>I		No	ClinGen ExAC TOPMed gnomAD
rs756545256 CA7906410	268	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7906407 rs113517438	270	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs747573605 CA7906405	272	D>N		No	ClinGen ExAC gnomAD
CA394780965 rs1251891137	273	E>K		No	ClinGen gnomAD
rs780393013 CA7906404	274	A>G		No	ClinGen ExAC gnomAD
CA394780955 rs1204114216	274	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA394780940 rs1294446039	275	T>I		No	ClinGen gnomAD
CA7906403 rs758775260	277	R>S		No	ClinGen ExAC
rs1199522758 CA394780915	277	R>T		No	ClinGen TOPMed
rs1247226960 CA394780909	278	S>T		No	ClinGen TOPMed gnomAD
rs750028349 CA7906402	278	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1313631216 CA394780884	280	L>F		No	ClinGen gnomAD
rs1373434975 CA394780857	282	K>E		No	ClinGen gnomAD
rs753364599 CA7906399 CA394780798	285	K>N		No	ClinGen ExAC TOPMed gnomAD
rs756898638 CA7906400	285	K>T		No	ClinGen ExAC TOPMed
TCGA novel	291	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1325073268 CA394780468	291	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7906373 rs755008165	294	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7906372 rs751349247	295	N>H		No	ClinGen ExAC gnomAD
rs1175490167 CA394780382	296	F>Y		No	ClinGen TOPMed
rs1382624183 CA394780359	297	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	300	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776722791 CA7906369	301	E>A		No	ClinGen ExAC gnomAD
CA7906368 rs764111544	302	R>W		No	ClinGen ExAC gnomAD
CA7906367 rs760774384	303	K>M		No	ClinGen ExAC gnomAD
CA7906366 rs371221543	305	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1383115027 CA394780136	306	R>K		No	ClinGen TOPMed
rs1376182259 CA394780130	306	R>S		No	ClinGen gnomAD
CA278326975 rs79957204	308	Q>*		No	ClinGen Ensembl
CA7906364 rs772543697	308	Q>R		No	ClinGen ExAC gnomAD
CA7906363 rs377471149	309	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA394780088 rs377471149	309	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA394780056 rs1170903924	310	R>T		No	ClinGen TOPMed
rs1567418011 CA394780031	311	K>N		No	ClinGen Ensembl
rs73509758 CA7906362	313	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394779995 rs1463005556	314	S>T		No	ClinGen gnomAD
rs771200399 CA7906361	315	V>D		No	ClinGen ExAC TOPMed gnomAD
CA7906359 rs777317849	319	D>G		No	ClinGen ExAC gnomAD
rs34999527 CA394779919	319	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7906360 rs34999527	319	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142060572 CA278326957	320	D>V		No	ClinGen ESP gnomAD
CA394779890 rs1317839225	321	V>M		No	ClinGen TOPMed
CA394779853 rs1335976636	323	P>S		No	ClinGen gnomAD
CA278326956 rs199498282	324	E>A		No	ClinGen TOPMed
rs199498282 CA278326955	324	E>V		No	ClinGen TOPMed
rs755649838 CA7906358	325	S>N		No	ClinGen ExAC gnomAD
rs1400149329 CA394779776	327	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA394779750 rs1169874092	328	T>I		No	ClinGen gnomAD
CA394779745 rs1169874092	328	T>S		No	ClinGen gnomAD
CA278326951 rs991073822	330	V>G		No	ClinGen TOPMed
rs747633923 CA7906357	333	P>R		No	ClinGen ExAC gnomAD
rs780900732 CA7906356	334	E>Q		No	ClinGen ExAC gnomAD
rs1250831316 CA394779599	335	S>*		No	ClinGen TOPMed
rs1187025995 CA394779608	335	S>P		No	ClinGen gnomAD
rs1244350689 CA394779588	336	K>E		No	ClinGen gnomAD
rs1183508724 CA394779563	337	K>E		No	ClinGen gnomAD
TCGA novel	339	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394779501 rs1461857102	340	T>S		No	ClinGen TOPMed
rs554764499 CA7906354	341	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs967554778 CA278326925	342	E>G		No	ClinGen TOPMed gnomAD
rs766131572 CA7906353	342	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA7906352 rs758149376	343	H>P		No	ClinGen ExAC gnomAD
CA278326921 rs932513017	343	H>Y		No	ClinGen Ensembl
CA394779412 rs1421406072	344	G>A		No	ClinGen TOPMed
rs1247961630 CA394779421	344	G>R		No	ClinGen gnomAD
CA394779339 rs1359866037	347	K>T		No	ClinGen gnomAD
CA7906351 rs148393242	348	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760933954 CA7906350	348	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7906349 rs760933954	348	R>L		No	ClinGen ExAC TOPMed gnomAD
CA394779309 rs760933954	348	R>P		No	ClinGen ExAC TOPMed gnomAD
CA394779323 rs148393242	348	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1426354013	348	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1449571820 CA394779303	349	G>S		No	ClinGen TOPMed gnomAD
CA394779289 rs1338787109	350	R>G		No	ClinGen gnomAD
rs1404460449 CA394779273	350	R>T		No	ClinGen TOPMed
rs1330916491 CA394779252	352	K>E		No	ClinGen gnomAD
rs767647714 CA7906347	354	Q>*		No	ClinGen ExAC gnomAD
rs760018323 CA7906346	357	A>T		No	ClinGen ExAC TOPMed gnomAD
CA394779147 rs1364611665	357	A>V		No	ClinGen TOPMed
CA394779142 rs1427012853	358	T>A		No	ClinGen gnomAD
TCGA novel	360	E>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394779070 rs1386248172	361	S>C		No	ClinGen gnomAD
CA394779069 rs1386248172	361	S>F		No	ClinGen gnomAD
rs1018375542 CA278326890	362	E>K		No	ClinGen TOPMed gnomAD
CA278326886 rs772213802	363	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1324560398 CA394779056	363	D>G		No	ClinGen TOPMed
CA7906343 rs749649706	363	D>Y		No	ClinGen ExAC gnomAD
rs1261340031 CA394779041	364	E>G		No	ClinGen TOPMed
CA278326882 rs376891639	364	E>K		No	ClinGen gnomAD
rs186514779 CA7906340	367	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394778669 rs1380922955	368	L>M		No	ClinGen gnomAD
rs779887053 CA7906336	370	P>R		No	ClinGen ExAC gnomAD
rs746907014 CA7906337	370	P>T		No	ClinGen ExAC gnomAD
rs2075161 CA278326844	371	I>L		No	ClinGen Ensembl
CA394778623 rs1280040069	373	K>N		No	ClinGen gnomAD
rs758401490 CA7906335	373	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7906334 rs200202339	374	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7906333 rs752917810	375	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7906330 rs767523103	375	T>I		No	ClinGen ExAC gnomAD
CA394778606 rs767523103	375	T>N		No	ClinGen ExAC gnomAD
rs752917810 CA7906332	375	T>P		No	ClinGen ExAC TOPMed gnomAD
CA7906331 rs752917810	375	T>S		No	ClinGen ExAC TOPMed gnomAD
CA394778600 rs969231885	376	P>A		No	ClinGen TOPMed gnomAD
rs969231885 CA278326838	376	P>S		No	ClinGen TOPMed gnomAD
rs1366599604 CA394778578	378	N>D		No	ClinGen gnomAD
CA7906329 rs759553444	378	N>I		No	ClinGen ExAC gnomAD
rs766769283 CA7906327	379	E>G		No	ClinGen ExAC gnomAD
rs373220202 CA7906328	379	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA278326830 rs200679514	382	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA7906324 rs200679514	382	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA394778409 rs550972691	383	I>F		No	ClinGen 1000Genomes gnomAD
CA278325960 rs550972691	383	I>V		No	ClinGen 1000Genomes gnomAD
rs763630966 CA394778397	384	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA7906299 rs763630966	384	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA7906298 rs760431429	386	H>D		No	ClinGen ExAC gnomAD
rs868828810 CA278325957	387	A>V		No	ClinGen Ensembl
CA394778347 rs1333333012	388	T>I		No	ClinGen TOPMed
CA278325953 rs1014278053	390	K>N		No	ClinGen TOPMed
rs1019003020 CA278325956	390	K>R		No	ClinGen Ensembl
CA278325940 rs530872170	393	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs530872170 CA394778298	393	P>Q		No	ClinGen 1000Genomes TOPMed gnomAD
rs1242634378 CA394778293	394	A>S		No	ClinGen TOPMed
rs774856874 CA7906297	395	K>E		No	ClinGen ExAC gnomAD
rs771611819 CA7906296	396	S>N		No	ClinGen ExAC gnomAD
CA278325928 rs896657583	399	P>A		No	ClinGen TOPMed gnomAD
rs774290148 CA7906294	399	P>L		No	ClinGen ExAC gnomAD
rs1339236564 CA394778228	400	S>I		No	ClinGen gnomAD
TCGA novel	402	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770668458 CA7906293	402	P>R		No	ClinGen ExAC gnomAD
CA7906292 rs368942051	403	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs375088154 CA7906291	403	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA394778199 rs375088154	403	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1567417122 CA394778183	405	K>R		No	ClinGen Ensembl
CA278325905 rs1042525132	408	K>N		No	ClinGen Ensembl
CA7906288 rs779932368	409	A>G		No	ClinGen ExAC gnomAD
rs1187654295 CA394778141	409	A>P		No	ClinGen gnomAD
rs1187654295 CA394778139	409	A>S		No	ClinGen gnomAD
rs371763462 CA7906287	410	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1192763415 COSM556744 CA394778117	411	P>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1184123970 CA394778113	412	A>P		No	ClinGen gnomAD
CA7906286 rs750912315	412	A>V		No	ClinGen ExAC gnomAD
CA7906283 rs764585663 CA7906282	414	E>D		No	ClinGen ExAC gnomAD
CA7906280 rs775218429	416	P>S		No	ClinGen ExAC
CA7906279 rs766884780	417	K>E		No	ClinGen ExAC TOPMed gnomAD
rs551631788 CA7906278	419	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs773894315 CA7906277	419	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7906276 rs369986614	422	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA278325881 rs1054559606	422	E>K		No	ClinGen TOPMed
rs749283494 CA7906275	424	P>Q		No	ClinGen ExAC gnomAD
CA394777997 CA7906274 rs772881396	425	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7906272 rs747144661	426	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs560024314 CA7906271	426	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394777968 rs1167548267	427	S>R		No	ClinGen gnomAD
CA7906269 rs745920036	428	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7906270 rs745920036	428	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	429	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA278325852 rs752808321	430	K>N		No	ClinGen TOPMed
rs757833801 CA7906267	431	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs201513307 CA278325847	431	K>R		No	ClinGen 1000Genomes
rs1245544392 CA394777876	432	P>R		No	ClinGen TOPMed
CA7906266 rs754400006	432	P>S		No	ClinGen ExAC
rs764304411 CA7906264	433	K>E		No	ClinGen ExAC TOPMed gnomAD
rs752248090 CA7906262	434	I>M		No	ClinGen ExAC TOPMed gnomAD
rs761058792 CA7906263 COSM1581614	434	I>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7906260 COSM1581613 rs759239307	435	K>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7906261 rs759239307	435	K>T		No	ClinGen ExAC TOPMed gnomAD
CA7906257 rs376667184	439	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	441	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394777597 rs1487752279	443	S>R		No	ClinGen gnomAD
CA278325808 rs983304186	444	P>H		No	ClinGen TOPMed
CA394777594 rs1246199677	444	P>S		No	ClinGen gnomAD
CA7906253 rs769428313	445	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773216601 CA7906254	445	S>T		No	ClinGen ExAC TOPMed gnomAD
CA394777570 rs1373415472	446	L>M		No	ClinGen TOPMed gnomAD
rs1218196331 CA394777542	448	K>R		No	ClinGen gnomAD
CA394777529 rs1307030344	449	K>E		No	ClinGen gnomAD
rs1407550416 CA394777526	449	K>T		No	ClinGen gnomAD
TCGA novel	450	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772410136 CA394777496	451	A>E		No	ClinGen ExAC TOPMed gnomAD
rs772410136 CA394777495	451	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1467450205 CA394777504	451	A>T		No	ClinGen TOPMed
CA7906250 rs772410136	451	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA278325796 rs372459136	453	Q>R		No	ClinGen ESP TOPMed
rs1421029255 CA394777462	454	T>S		No	ClinGen gnomAD
rs771145823 CA7906247	456	K>E		No	ClinGen ExAC gnomAD
CA7906245 rs778371480	457	K>T		No	ClinGen ExAC TOPMed gnomAD
CA394777396 rs1488347517	459	E>G		No	ClinGen gnomAD
CA7906244 rs756615378	459	E>K		No	ClinGen ExAC gnomAD
CA394777375 rs1218473635	460	A>S		No	ClinGen gnomAD
CA394777279 rs1319926284	465	T>I		No	ClinGen TOPMed
CA7906240 rs754625791	466	P>L		No	ClinGen ExAC gnomAD
CA394777265 rs1202164660	467	S>G		No	ClinGen TOPMed
rs975040487 CA278325767	469	S>F		No	ClinGen gnomAD
CA7906238 rs765818849	471	R>I		No	ClinGen ExAC gnomAD
CA7906239 rs765818849	471	R>K		No	ClinGen ExAC gnomAD
CA7906237 rs762473257	472	K>R		No	ClinGen ExAC gnomAD
CA394777157 rs1483353738	473	A>P		No	ClinGen TOPMed
CA394777148 rs1596437079	473	A>V		No	ClinGen Ensembl
CA394777106 rs1474572883	476	T>A		No	ClinGen TOPMed
CA394777099 rs1193760466	476	T>I		No	ClinGen TOPMed
CA394777063 rs1430871350	478	K>N		No	ClinGen TOPMed
CA7906234 rs563090505	478	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141463075 CA7906233	479	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770576841	479	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7906231 rs768576124	480	W>*		No	ClinGen ExAC TOPMed gnomAD
CA7906230 rs142876724	482	K>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA394776994 rs142876724	482	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7906229 rs200472995	482	K>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	483	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	484	P>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394776949 rs771090795	485	K>*		No	ClinGen ExAC gnomAD
rs1325052268 CA394776941	485	K>N		No	ClinGen gnomAD
rs771090795 CA7906228	485	K>Q		No	ClinGen ExAC gnomAD
rs1206331302 CA394776943	485	K>T		No	ClinGen gnomAD
CA394776930 rs1314953533	486	V>G		No	ClinGen TOPMed
rs1033911856 CA278325725	488	Q>H		No	ClinGen TOPMed
CA394776916 rs1231983608	488	Q>P		No	ClinGen gnomAD
CA394776892 rs1567416935	489	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA

No associated diseases with O76021

No regional properties for O76021

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for O76021

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleolus	Colocalizes with ING1 in the nucleolus after UV stress
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
90S preribosome	A large ribonucleoprotein complex considered to be the earliest preribosomal complex. In S. cerevisiae, it has a size of 90S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins.
chromosome	A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.

4 GO annotations of molecular function

Name	Definition
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
mRNA 3'-UTR binding	Binding to a 3' untranslated region of an mRNA molecule.
mRNA 5'-UTR binding	Binding to an mRNA molecule at its 5' untranslated region.
RNA binding	Binding to an RNA molecule or a portion thereof.

5 GO annotations of biological process

Name	Definition
maturation of LSU-rRNA	Any process involved in the maturation of a precursor Large SubUnit (LSU) ribosomal RNA (rRNA) molecule into a mature LSU-rRNA molecule.
osteoblast differentiation	The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone.
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of cellular senescence	Any process that modulates the frequency, rate or extent of cellular senescence.
regulation of protein localization	Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MEDSASASLS	SAAATGTSTS	TPAAPTARKQ	LDKEQVRKAV	DALLTHCKSR	KNNYGLLLNE
70	80	90	100	110	120
NESLFLMVVL	WKIPSKELRV	RLTLPHSIRS	DSEDICLFTK	DEPNSTPEKT	EQFYRKLLNK
130	140	150	160	170	180
HGIKTVSQII	SLQTLKKEYK	SYEAKLRLLS	SFDFFLTDAR	IRRLLPSLIG	RHFYQRKKVP
190	200	210	220	230	240
VSVNLLSKNL	SREINDCIGG	TVLNISKSGS	CSAIRIGHVG	MQIEHIIENI	VAVTKGLSEK
250	260	270	280	290	300
LPEKWESVKL	LFVKTEKSAA	LPIFSSFVSN	WDEATKRSLL	NKKKKEARRK	RRERNFEKQK
310	320	330	340	350	360
ERKKKRQQAR	KTASVLSKDD	VAPESGDTTV	KKPESKKEQT	PEHGKKKRGR	GKAQVKATNE
370	380	390	400	410	420
SEDEIPQLVP	IGKKTPANEK	VEIQKHATGK	KSPAKSPNPS	TPRGKKRKAL	PASETPKAAE
430	440	450	460	470	480
SETPGKSPEK	KPKIKEEAVK	EKSPSLGKKD	ARQTPKKPEA	KFFTTPSKSV	RKASHTPKKW

PKKPKVPQST