AiPD: Autoinhibited Protein Database

P48378

Gene name	RFX2
Protein name	DNA-binding protein RFX2
Names	Regulatory factor X 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5990
EC number
Protein Class

Descriptions

RFX1 is a regulatory factor essential for MHC class II genes expression, and binds to the X boxes of MHC class II genes. This protein possesses intrinsically disordered regions (IDRs) with large negative charge, some of which involve a consecutive sequence of aspartate (D) or glutamate (E) residues, known as D/E repeats. These D/E repeats can cause autoinhibition through intramolecular electrostatic interaction with HMG boxes and modulate binding to DNA. This autoinhibited state can transition into the uninhibited complex with DNA through an electrostatically driven induced-fit process, which accelerates the target DNA search kinetics in the presence of non-functional high-affinity ligands ('decoys').

Autoinhibitory domains (AIDs)

686-696 (D/E repeat) SS

Target domain	128-288 (DNA binding domain)
Relief mechanism	PTM
Assay

AID

686-696 (D/E repeat)

Target domain

128-288 (DNA binding domain)

Relief mechanism

PTM (Phosphorylation by kinases such as PKC)

Assay

Accessory elements

No accessory elements

References

Wang X et al. (2023) "Negatively charged, intrinsically disordered regions can accelerate target search by DNA-binding proteins", Nucleic acids research, 51, 4701-4712

Katan-Khaykovich Y et al. (2001) "Nuclear import and DNA-binding activity of RFX1. Evidence for an autoinhibitory mechanism", European journal of biochemistry, 268, 3108-16

Stott K et al. (2010) "Tail-mediated collapse of HMGB1 is dynamic and occurs via differential binding of the acidic tail to the A and B domains", Journal of molecular biology, 403, 706-22

Watson M et al. (2007) "Mapping intramolecular interactions between domains in HMGB1 using a tail-truncation approach", Journal of molecular biology, 374, 1286-97

Stott K et al. (2014) "Structural insights into the mechanism of negative regulation of single-box high mobility group proteins by the acidic tail domain", The Journal of biological chemistry, 289, 29817-26

Ueshima S et al. (2017) "Internal Associations of the Acidic Region of Upstream Binding Factor Control Its Nucleolar Localization", Molecular and cellular biology, 37,

Wang X et al. (2021) "Dynamic Autoinhibition of the HMGB1 Protein via Electrostatic Fuzzy Interactions of Intrinsically Disordered Regions", Journal of molecular biology, 433, 167122

Gajiwala KS et al. (2000) "Structure of the winged-helix protein hRFX1 reveals a new mode of DNA binding", Nature, 403, 916-21

Autoinhibited structure

Activated structure

1 structures for P48378

Entry ID	Method	Resolution	Chain	Position	Source
AF-P48378-F1	Predicted				AlphaFoldDB

709 variants for P48378

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001780430 rs769861701 RCV002539717	474	I>T	Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1281206735	3	N>H		No	gnomAD
rs781080292	4	S>C		No	ExAC TOPMed gnomAD
rs781080292	4	S>F		No	ExAC TOPMed gnomAD
rs781080292	4	S>Y		No	ExAC TOPMed gnomAD
rs1325581103	5	E>D		No	gnomAD
rs142338131	5	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs751476273	6	G>D		No	ExAC TOPMed gnomAD
rs2144779666	6	G>S		No	Ensembl
rs765256838	7	G>E		No	ExAC TOPMed gnomAD
rs1395896990	7	G>R		No	TOPMed gnomAD
rs1467661000	8	A>T		No	TOPMed gnomAD
rs769742826	8	A>V		No	ExAC gnomAD
rs764367964	10	S>L		No	ExAC TOPMed gnomAD
rs948583093	12	A>G		No	TOPMed gnomAD
rs948583093	12	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2087208819	14	V>E		No	Ensembl
rs575115131	14	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs774870693	15	A>V		No	ExAC gnomAD
rs748844044	16	L>P		No	ExAC gnomAD
rs769588473 COSM1223597	17	R>C	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs769588473	17	R>G		No	ExAC TOPMed gnomAD
rs201485682	17	R>H		No	ESP ExAC TOPMed gnomAD
rs2087208060	18	P>L		No	TOPMed gnomAD
rs958046437	19	S>*		No	TOPMed gnomAD
rs958046437	19	S>L		No	TOPMed gnomAD
rs754756303	20	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs2087207488	22	A>T		No	Ensembl
rs758263863	22	A>V		No	ExAC TOPMed gnomAD
rs764101937	23	P>L		No	ExAC TOPMed gnomAD
TCGA novel	25	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs752874715	25	V>L		No	ExAC gnomAD
rs572601772	26	P>S		No	1000Genomes ExAC gnomAD
rs1248016156	28	S>F		No	TOPMed
rs759991784	29	P>L		No	ExAC gnomAD
rs759991784	29	P>Q		No	ExAC gnomAD
rs745738620	32	V>E		No	ExAC
rs1180176989	32	V>L		No	gnomAD
rs1180176989	32	V>M		No	gnomAD
TCGA novel	33	L>F	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1363983138	33	L>S		No	Ensembl
rs2087154957	35	Q>H		No	Ensembl
rs2087155034	35	Q>R		No	Ensembl
rs1448597502	36	A>G		No	Ensembl
VAR_036530	37	A>G	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs2087154821 COSM1711645	37	A>V	skin [Cosmic]	No	cosmic curated TOPMed
rs550000087	38	S>I		No	1000Genomes ExAC TOPMed gnomAD
rs550000087	38	S>N		No	1000Genomes ExAC TOPMed gnomAD
rs1286949592	39	S>C		No	gnomAD
rs1286949592	39	S>F		No	gnomAD
rs2087154485	40	N>S		No	gnomAD
TCGA novel	41	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1357289942	42	K>R		No	gnomAD
rs752015664	44	A>P		No	ExAC TOPMed gnomAD
rs752015664	44	A>T		No	ExAC TOPMed gnomAD
rs1382017521	45	Q>H		No	TOPMed gnomAD
rs1430392217	46	M>I		No	gnomAD
rs763589544	46	M>R		No	ExAC TOPMed gnomAD
rs763589544	46	M>T		No	ExAC TOPMed gnomAD
TCGA novel	47	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs750914387	48	P>L		No	ExAC TOPMed gnomAD
rs2087153649	54	V>I		No	Ensembl
rs1421148186	55	Q>R		No	gnomAD
rs2144772221	57	V>I		No	Ensembl
rs2144772192	58	P>R		No	Ensembl
rs371265008	58	P>S		No	ESP ExAC TOPMed gnomAD
rs371265008	58	P>T		No	ESP ExAC TOPMed gnomAD
rs2087153235	59	Q>K		No	TOPMed
rs372121640	61	V>E		No	ESP ExAC TOPMed gnomAD
rs372121640	61	V>G		No	ESP ExAC TOPMed gnomAD
rs1231187759	61	V>M		No	TOPMed gnomAD
rs754258690	63	P>L		No	ExAC TOPMed gnomAD
COSM4818482	63	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	63	P>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs543948171	64	V>A		No	1000Genomes ExAC TOPMed gnomAD
rs543948171	64	V>E		No	1000Genomes ExAC TOPMed gnomAD
rs543948171	64	V>G		No	1000Genomes ExAC TOPMed gnomAD
rs755627032	64	V>M		No	ExAC gnomAD
rs767220785	67	V>M		No	ExAC TOPMed gnomAD
rs759171697	69	P>H		No	ExAC gnomAD
rs1202362002	70	A>V		No	gnomAD
COSM4082508	72	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs374138479	72	V>M		No	ESP ExAC TOPMed gnomAD
rs1256968592	73	Q>R		No	gnomAD
rs139444981	74	Y>*		No	ESP ExAC TOPMed gnomAD
rs762974175	75	V>M		No	ExAC TOPMed gnomAD
rs773074998	77	G>A		No	ExAC TOPMed gnomAD
rs773074998	77	G>E		No	ExAC TOPMed gnomAD
rs773074998	77	G>V		No	ExAC TOPMed gnomAD
rs1377033232	78	G>A		No	gnomAD
rs1568521007	78	G>R		No	Ensembl
rs574983705	79	D>N		No	1000Genomes ExAC gnomAD
rs370163984	80	A>P		No	ESP TOPMed gnomAD
rs370163984	80	A>S		No	ESP TOPMed gnomAD
rs370163984	80	A>T		No	ESP TOPMed gnomAD
rs200929323	81	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs1599876575	83	T>P		No	Ensembl
rs1343706532	84	N>D		No	TOPMed gnomAD
rs779450484	84	N>S		No	ExAC TOPMed gnomAD
rs2087116727	85	G>A		No	TOPMed gnomAD
rs757515086	85	G>R		No	ExAC TOPMed gnomAD
VAR_057151 rs2288846	86	A>T		No	UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs778182843	87	I>T		No	ExAC gnomAD
rs201817157 COSM292596	88	R>*	Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs779642985	88	R>L		No	ExAC TOPMed gnomAD
rs779642985	88	R>P		No	ExAC TOPMed gnomAD
rs779642985	88	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1305493436	89	T>I		No	gnomAD
TCGA novel	90	A>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1599875251	92	T>A		No	TOPMed
rs1599875251	92	T>P		No	TOPMed
rs750199956	93	Y>C		No	ExAC TOPMed gnomAD
rs1599875228	94	N>T		No	Ensembl
rs2087088896	95	P>R		No	TOPMed
rs2087088939	95	P>T		No	Ensembl
rs1301547129 COSM3389479	96	E>K	Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1301547129	96	E>Q		No	TOPMed gnomAD
rs765018085	97	P>T		No	ExAC gnomAD
rs761875306	99	M>I		No	ExAC TOPMed
rs753779015	100	Y>H		No	ExAC gnomAD
rs143212551	101	A>T		No	ESP ExAC TOPMed gnomAD
rs774567319	101	A>V		No	ExAC gnomAD
rs1164150342	102	P>S		No	TOPMed gnomAD
rs771112437	104	S>N		No	ExAC TOPMed gnomAD
rs1315920773	104	S>R		No	TOPMed gnomAD
rs763173797	105	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1196349700	107	S>P		No	gnomAD
rs374925598	110	E>D		No	ESP TOPMed
VAR_036531 COSM33225 rs748493309	110	E>K	breast a breast cancer sample; somatic mutation [Cosmic, UniProt]	No	cosmic curated UniProt ExAC TOPMed dbSNP gnomAD
rs1599875142	111	A>P		No	Ensembl
rs2087087899	112	P>R		No	Ensembl
rs2087087851	113	G>A		No	TOPMed
rs548767564	114	G>C		No	1000Genomes ExAC TOPMed gnomAD
rs548767564 COSM248895	114	G>S	pancreas [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
TCGA novel	115	A>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs779559219	115	A>T		No	ExAC TOPMed gnomAD
rs757991823	115	A>V		No	ExAC TOPMed gnomAD
rs750054520	116	Q>H		No	ExAC TOPMed gnomAD
rs778596080	117	V>A		No	ExAC gnomAD
rs150537865	118	T>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1599875097	118	T>P		No	Ensembl
rs779216796	119	V>M		No	ExAC TOPMed gnomAD
rs2087087241	120	A>T		No	Ensembl
rs1568519854	121	A>V		No	Ensembl
rs1400273125	122	S>L		No	TOPMed gnomAD
rs867347174	123	S>F		No	Ensembl
rs766412307 COSM379166	124	P>L	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1387599225	125	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs773535862	125	P>S		No	ExAC gnomAD
rs765417588	126	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	127	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs776971719	128	P>L		No	ExAC gnomAD
COSM5921575	128	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1199197407	130	H>D		No	gnomAD
rs2087086300	134	G>D		No	TOPMed gnomAD
rs1458879226	135	I>M		No	TOPMed gnomAD
rs2087086217	135	I>V		No	TOPMed gnomAD
rs368916951	137	M>I		No	ESP ExAC TOPMed gnomAD
rs1200083511	137	M>V		No	TOPMed gnomAD
rs1276663997	138	D>G		No	gnomAD
rs774896011	139	V>I		No	ExAC gnomAD
rs190511322	140	G>E		No	1000Genomes ExAC TOPMed gnomAD
rs771562752	140	G>R		No	ExAC TOPMed gnomAD
rs190511322	140	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs771562752	140	G>W		No	ExAC TOPMed gnomAD
rs749151800	141	G>A		No	ExAC gnomAD
TCGA novel	141	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs756965652	141	G>R		No	ExAC gnomAD
COSM1396337	142	S>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	142	S>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs977892764	142	S>G		No	gnomAD
rs541613594	142	S>N		No	1000Genomes ExAC TOPMed gnomAD
COSM714027 rs977892764	142	S>R	lung [Cosmic]	No	cosmic curated gnomAD
rs541613594	142	S>T		No	1000Genomes ExAC TOPMed gnomAD
rs144802602	143	P>S		No	ESP TOPMed gnomAD
rs144802602	143	P>T		No	ESP TOPMed gnomAD
rs202050417	145	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1599874917	146	S>P		No	Ensembl
rs2087085091	147	S>I		No	gnomAD
rs750467379	147	S>R		No	ExAC TOPMed gnomAD
rs144698636	148	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs761969837	148	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs139393345	149	G>E		No	ESP TOPMed gnomAD
rs764402806	149	G>R		No	ExAC gnomAD
rs761110551	150	A>S		No	ExAC TOPMed gnomAD
rs761110551	150	A>T		No	ExAC TOPMed gnomAD
rs776115900	151	Y>C		No	ExAC TOPMed gnomAD
rs776115900	151	Y>F		No	ExAC TOPMed gnomAD
rs2144762715	153	I>L		No	Ensembl
rs1242950539	155	G>E		No	gnomAD
rs772426061	155	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD NCI-TCGA
rs143838272	156	G>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2144762681	156	G>R		No	Ensembl
COSM440572 rs143838272	156	G>V	breast [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs2087084133	157	M>T		No	TOPMed
rs748878754	157	M>V		No	ExAC gnomAD
rs2087084093	158	D>N		No	TOPMed
rs1568519649	158	D>V		No	Ensembl
rs777739524	160	T>P		No	ExAC gnomAD
rs1335713972	162	H>R		No	TOPMed gnomAD
rs2087083902	164	L>P		No	TOPMed
rs1397810498	165	A>V		No	gnomAD
rs77515817	166	H>P		No	gnomAD
rs1359339357	166	H>Y		No	gnomAD
rs1158766477	167	T>A		No	gnomAD
rs1158766477	167	T>P		No	gnomAD
rs2087083646	167	T>S		No	Ensembl
rs747867889	168	S>C		No	ExAC TOPMed gnomAD
rs781259835	169	R>C		No	ExAC TOPMed gnomAD
rs200963067 COSM1396336	169	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs750533655	170	S>L		No	ExAC gnomAD
COSM1720249 rs1488127594	171	S>L	NS [Cosmic]	No	cosmic curated gnomAD
rs1320026535	173	A>T		No	gnomAD
rs754012291	174	T>M		No	ExAC TOPMed gnomAD
rs2086887112	177	M>V		No	TOPMed
rs1389625080	178	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
COSM5139700	181	N>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs914760686	181	N>S		No	TOPMed gnomAD
rs914760686	181	N>T		No	TOPMed gnomAD
rs2086886892	183	Q>R		No	TOPMed
rs753886292	184	K>N		No	ExAC gnomAD
TCGA novel	185	S>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1424504397	185	S>N		No	gnomAD
rs756275822	186	E>*		No	ExAC TOPMed gnomAD
rs756275822 COSM1741591	186	E>K	urinary_tract [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs199570398	188	I>V		No	ESP ExAC TOPMed gnomAD
rs150435072	189	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs752061625	191	H>P		No	ExAC gnomAD
rs752061625	191	H>R		No	ExAC gnomAD
rs1310116504	193	S>N		No	TOPMed gnomAD
rs766967548	193	S>R		No	ExAC gnomAD
rs772838904	194	G>C		No	ExAC gnomAD
rs2086886321	194	G>D		No	TOPMed
rs772838904	194	G>S		No	ExAC gnomAD
rs2086886293	195	L>S		No	TOPMed
rs2086886256	196	L>H		No	gnomAD
rs2086886228	197	N>S		No	Ensembl
rs572154715	198	S>C		No	1000Genomes ExAC gnomAD
rs763772329	200	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs2086725068	201	Q>R		No	Ensembl
COSM3540844	202	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1423537134	204	L>F		No	gnomAD
rs201444512	204	L>V		No	ExAC gnomAD
rs1002043074	204	L>W		No	Ensembl
rs745738466	205	D>E		No	ExAC TOPMed
rs775250409	205	D>G		No	ExAC gnomAD
rs773368485	207	Y>C		No	ExAC gnomAD
rs1486469836	210	A>V		No	gnomAD
rs1334425422	212	G>D		No	TOPMed gnomAD
rs769710589	214	S>N		No	ExAC gnomAD
rs927662582	215	L>I		No	TOPMed gnomAD
rs927662582	215	L>V		No	TOPMed gnomAD
rs781306908	219	S>C		No	ExAC TOPMed gnomAD
rs781306908	219	S>F		No	ExAC TOPMed gnomAD
COSM177080	219	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs913303625	220	L>V		No	Ensembl
rs2086724047	222	N>S		No	TOPMed
rs2086724089	222	N>Y		No	TOPMed
rs1599854212	224	Y>S		No	Ensembl
rs747394691	226	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs755241035	226	R>W		No	ExAC TOPMed gnomAD
rs780503807	227	H>D		No	ExAC TOPMed gnomAD
rs1273356351	231	H>D		No	TOPMed
rs1454531904	231	H>R		No	gnomAD
rs1273356351	231	H>Y		No	TOPMed
rs759009712	232	K>E		No	ExAC TOPMed gnomAD
rs759009712	232	K>Q		No	ExAC TOPMed gnomAD
rs1201331747	235	P>Q		No	TOPMed gnomAD
COSM1396316	237	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs758198748	238	A>T		No	TOPMed gnomAD
TCGA novel	238	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1002814	239	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs573270091	241	F>L		No	1000Genomes ExAC TOPMed gnomAD
rs1476468859	244	L>M		No	TOPMed gnomAD
rs1476468859	244	L>V		No	TOPMed gnomAD
rs909495817	246	R>H		No	gnomAD
rs2086723163	250	M>T		No	TOPMed
rs753387032 COSM2727032	254	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1178808847	255	R>Q		No	TOPMed gnomAD
rs1192487690	255	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
TCGA novel	258	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2086722798	259	T>I		No	gnomAD
rs946044608	261	G>S		No	TOPMed gnomAD
TCGA novel	263	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs893770210	264	K>R		No	Ensembl
rs1165415115	266	H>Y		No	TOPMed
rs1445288845	267	Y>H		No	gnomAD
rs1376621300	269	G>E		No	gnomAD
rs755793730 COSM4721209	271	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs78767825	271	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs767130700	272	L>V		No	ExAC gnomAD
rs1395177719	273	K>R		No	gnomAD
rs199920056	274	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs199920056	274	P>R		No	1000Genomes ExAC TOPMed gnomAD
rs2086680412	276	S>L		No	TOPMed
rs762884348	280	R>Q		No	ExAC TOPMed gnomAD
rs1354676993	280	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs367729637	283	E>D		No	ESP TOPMed gnomAD
TCGA novel	284	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2086680166	284	D>N		No	gnomAD
TCGA novel	285	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs768811405	285	T>K		No	ExAC TOPMed gnomAD
rs768811405	285	T>M		No	ExAC TOPMed gnomAD
rs564248930	286	Q>R		No	1000Genomes ExAC TOPMed gnomAD
rs1348669606	287	Y>C		No	TOPMed gnomAD
TCGA novel rs2086679701	288	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs775896111	288	M>L		No	ExAC gnomAD
rs2086679748	288	M>T		No	Ensembl
rs775896111 COSM1002813	288	M>V	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1291397568	289	A>V		No	Ensembl
TCGA novel	290	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1353686267	290	M>T		No	gnomAD
rs2086679621	290	M>V		No	gnomAD
rs746278181	291	R>Q		No	ExAC TOPMed gnomAD
rs772420460	291	R>W		No	ExAC TOPMed gnomAD
rs867300698	292	Q>K		No	Ensembl
TCGA novel	294	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1331729386	294	P>R		No	gnomAD
rs1239218931	295	M>T		No	TOPMed gnomAD
rs1041220195	296	H>R		No	TOPMed gnomAD
rs2086679195	296	H>Y		No	Ensembl
rs1375520684	297	Q>H		No	gnomAD
rs1599848172	301	Y>S		No	Ensembl
rs1157920375	302	R>Q		No	gnomAD
rs1450438706	302	R>W		No	TOPMed gnomAD
rs1214658051	303	P>Q		No	TOPMed gnomAD
rs886338976	303	P>S		No	TOPMed gnomAD
rs886338976	303	P>T		No	TOPMed gnomAD
TCGA novel	304	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2086642846	306	K>N		No	Ensembl
rs759734629	307	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1270309471	308	D>N		No	TOPMed gnomAD
rs1432782057	309	S>N		No	gnomAD
rs1329228920	310	L>F		No	1000Genomes gnomAD
rs552233405	311	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs1599848091	312	D>A		No	Ensembl
rs2144694786	312	D>N		No	Ensembl
rs1168781993	313	S>N		No	gnomAD
rs895769852	313	S>R		No	TOPMed gnomAD
TCGA novel	314	G>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs202155693	314	G>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1055802802	314	G>V		No	TOPMed gnomAD
rs1188411660	315	S>C		No	gnomAD
rs1188411660	315	S>F		No	gnomAD
rs1236107155	317	S>T		No	TOPMed gnomAD
rs144879552	318	G>S		No	ESP ExAC TOPMed gnomAD
rs1043235339	319	L>P		No	Ensembl
rs149873114	319	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs920531182	321	S>G		No	TOPMed gnomAD
rs139113134	323	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs139113134	323	P>R		No	1000Genomes ExAC TOPMed gnomAD
rs771985162	323	P>S		No	TOPMed gnomAD
rs1273296813	324	E>V		No	gnomAD
rs1215775079	327	M>V		No	gnomAD
rs1342267250	328	A>S		No	gnomAD
TCGA novel	329	V>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs34026770	329	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2086641581	331	S>R		No	TOPMed
rs2086641546	333	H>P		No	gnomAD
rs2086641480	334	H>L		No	Ensembl
rs1200762191	334	H>Q		No	TOPMed gnomAD
rs921590326	335	Q>*		No	TOPMed gnomAD
rs921590326	335	Q>K		No	TOPMed gnomAD
TCGA novel	337	Y>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2086641353	338	I>V		No	gnomAD
rs143263369	341	S>F		No	ESP gnomAD
rs1454825986	341	S>P		No	gnomAD
rs1475100077	342	H>Q		No	TOPMed gnomAD
rs779827412	343	V>I		No	ExAC TOPMed gnomAD
rs1475893184	345	P>H		No	gnomAD
rs866668035	345	P>L		No	Ensembl
rs957271701	345	P>S		No	TOPMed gnomAD
rs1039999101	346	E>K		No	TOPMed gnomAD
rs942642005	347	F>I		No	Ensembl
rs745674690	347	F>L		No	ExAC gnomAD
rs778786880	348	P>L		No	ExAC
rs1262442730	348	P>S		No	gnomAD
rs766424583	349	A>E		No	TOPMed gnomAD
rs766424583	349	A>V		No	TOPMed gnomAD
rs930723275	351	D>E		No	TOPMed gnomAD
rs200258235	351	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs2086610711	352	L>V		No	TOPMed
rs1294998283	353	G>S		No	gnomAD
rs79564339	355	F>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs751585741	358	Q>L		No	ExAC
rs1461194981	359	D>N		No	gnomAD
rs1462725173	360	G>D		No	gnomAD
rs147328629	360	G>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs559596425	361	V>F		No	1000Genomes TOPMed gnomAD
rs559596425	361	V>I		No	1000Genomes TOPMed gnomAD
rs1191783238	362	T>I		No	gnomAD
rs1191683232	364	H>Y		No	gnomAD
rs376202714	365	D>N		No	ESP ExAC TOPMed gnomAD
rs962112210 COSM1189791	366	V>I	lung [Cosmic]	No	cosmic curated TOPMed gnomAD
rs962112210	366	V>L		No	TOPMed gnomAD
rs1250995197	368	A>S		No	TOPMed gnomAD
rs1250995197	368	A>T		No	TOPMed gnomAD
rs2086609172	369	L>P		No	TOPMed
rs2086609063	370	Q>*		No	TOPMed gnomAD
TCGA novel	374	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs969705459	375	R>Q		No	TOPMed gnomAD
rs981390543	375	R>W		No	TOPMed gnomAD
rs372942360	378	E>K		No	ESP TOPMed gnomAD
rs1420374026	382	D>N		No	gnomAD
rs2086603235	383	V>M		No	TOPMed
rs2086603163	384	V>L		No	Ensembl
rs2086603077	388	Q>K		No	TOPMed
rs771656971	389	F>L		No	ExAC gnomAD
rs1194588345	390	H>Y		No	TOPMed gnomAD
rs189822363	392	I>M		No	1000Genomes ExAC TOPMed gnomAD
rs1248047760	393	E>*		No	TOPMed gnomAD
rs1248047760	393	E>K		No	TOPMed gnomAD
rs1202065688	395	L>M		No	TOPMed gnomAD
rs1202065688	395	L>V		No	TOPMed gnomAD
rs1436692714	396	W>*		No	gnomAD
rs2086602707	397	L>F		No	gnomAD
rs774184268	398	S>P		No	ExAC TOPMed gnomAD
rs1271043222	400	W>*		No	TOPMed gnomAD
rs1345572661	401	N>D		No	TOPMed gnomAD
rs1199304113	401	N>I		No	TOPMed gnomAD
rs1370536102	403	K>E		No	TOPMed gnomAD
rs1369490466	404	A>S		No	TOPMed gnomAD
rs1369490466	404	A>T		No	TOPMed gnomAD
rs1296642419	404	A>V		No	gnomAD
rs1441800802	406	S>F		No	gnomAD
rs201227349	408	D>H		No	1000Genomes ExAC TOPMed gnomAD
rs201227349	408	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs148161020	409	G>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs989691340	410	P>L		No	TOPMed gnomAD
rs1406292991	412	S>F		No	gnomAD
rs781167940	413	L>V		No	ExAC gnomAD
rs1206592957	414	P>L		No	gnomAD
rs1233112709	414	P>S		No	gnomAD
rs745964622	417	D>G		No	ExAC gnomAD
COSM1711643 rs757505751	418	E>K	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1459603072	420	P>A		No	gnomAD
rs371410292 COSM4082503	421	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs371410292	421	E>Q		No	ESP ExAC TOPMed gnomAD
rs932576671	422	G>D		No	TOPMed
rs753097280	423	A>S		No	ExAC TOPMed gnomAD
COSM3404735 rs753097280	423	A>T	central_nervous_system [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs2086593809	424	V>A		No	TOPMed
rs138852957	424	V>I		No	ESP ExAC TOPMed gnomAD
rs1212042064	426	P>R		No	gnomAD
rs755484549	426	P>S		No	ExAC TOPMed gnomAD
rs755484549	426	P>T		No	ExAC TOPMed gnomAD
rs2086593675	427	K>E		No	TOPMed
rs751119246	427	K>R		No	ExAC gnomAD
rs1860759264	435	Q>H		No	TOPMed
rs2086593478	435	Q>P		No	TOPMed
rs1305858481	436	C>F		No	gnomAD
rs928460486	436	C>R		No	gnomAD
rs1305858481	436	C>Y		No	gnomAD
rs145028979	437	D>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1367785409	438	P>A		No	TOPMed gnomAD
rs1367785409	438	P>S		No	TOPMed gnomAD
rs981346993	439	I>T		No	Ensembl
rs140345035	441	R>K		No	ESP ExAC TOPMed gnomAD
rs140345035	441	R>M		No	ESP ExAC TOPMed gnomAD
rs1240820887	443	M>I		No	Ensembl
rs764939768	443	M>V		No	ExAC gnomAD
rs761572393	444	R>S		No	ExAC TOPMed gnomAD
rs1023631913	445	S>C		No	Ensembl
TCGA novel	447	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs768589208	449	I>V		No	ExAC TOPMed gnomAD
rs746911507	450	L>F		No	ExAC gnomAD
rs1261670320	450	L>H		No	TOPMed
rs990840779	451	Y>C		No	TOPMed gnomAD
rs2086592796	451	Y>H		No	gnomAD
TCGA novel rs2086592736	453	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
TCGA novel	454	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs770962936	455	V>M		No	ExAC gnomAD
rs1467893609	456	E>K		No	TOPMed gnomAD
rs749354849	457	I>T		No	ExAC gnomAD
rs2086592538	458	L>I		No	Ensembl
rs1211906773	460	P>R		No	gnomAD
rs748535506	461	D>E		No	ExAC TOPMed gnomAD
rs1250894397	461	D>N		No	TOPMed gnomAD
rs1449978122	464	R>T		No	TOPMed
rs375765912	465	P>L		No	ESP ExAC TOPMed gnomAD
rs1233964758	465	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs2086591994	467	P>R		No	Ensembl
COSM3540842	467	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1235699939	468	S>N		No	gnomAD
rs2086545315	469	T>I		No	Ensembl
rs1599841791	469	T>P		No	Ensembl
rs767365393	471	T>I		No	ExAC TOPMed gnomAD
rs1374792231	473	A>V		No	TOPMed
rs773195810	474	I>L		No	ExAC TOPMed gnomAD
rs773195810	474	I>V		No	ExAC TOPMed gnomAD
rs761961154	475	R>C		No	ExAC gnomAD
TCGA novel	475	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2086544705	477	F>S		No	gnomAD
rs1172875046	479	K>R		No	TOPMed
rs1373120091	483	G>D		No	TOPMed gnomAD
rs953423252	486	T>A		No	TOPMed gnomAD
rs777061029	487	N>S		No	ExAC
rs768988919	488	A>D		No	ExAC
rs868328577	488	A>S		No	Ensembl
rs1446666726	489	M>I		No	gnomAD
rs1030143794	489	M>T		No	TOPMed
rs1303111061	490	S>R		No	TOPMed gnomAD
rs887471057	491	D>E		No	TOPMed gnomAD
rs1568500424	491	D>N		No	gnomAD
rs1289681069	494	Q>R		No	gnomAD
rs2086543421	495	Q>K		No	TOPMed
rs2086543382	495	Q>R		No	TOPMed
TCGA novel	496	V>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3836064	498	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4082501	498	Q>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs772491034	499	T>N		No	ExAC TOPMed gnomAD
rs368482689	501	V>M		No	ESP ExAC TOPMed gnomAD
rs1278031844	502	G>D		No	gnomAD
rs750438101	503	V>G		No	ExAC TOPMed
rs758435538	503	V>I		No	ExAC TOPMed gnomAD
rs1359114102	504	V>A		No	gnomAD
rs1033176690	504	V>I		No	TOPMed gnomAD
rs1416550123	506	A>T		No	1000Genomes gnomAD
rs375210324	508	A>S		No	ESP ExAC TOPMed gnomAD
rs375210324 COSM380142	508	A>T	lung [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
COSM4082500	509	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs769822837	510	T>K		No	ExAC gnomAD
rs769822837	510	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs763279781	512	R>Q		No	ExAC gnomAD
rs1037350813	513	R>C		No	gnomAD
COSM379164 rs773748953	513	R>H	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs770280050	515	T>M		No	ExAC TOPMed gnomAD
rs770280050	515	T>R		No	ExAC TOPMed gnomAD
rs1290231836	518	N>S		No	gnomAD
rs1015499615	521	A>G		No	TOPMed gnomAD
rs1015499615	521	A>V		No	TOPMed gnomAD
rs140899437	522	Q>H		No	ESP ExAC TOPMed gnomAD
rs2086510669	523	A>V		No	gnomAD
rs1343844687	524	A>V		No	gnomAD
rs151006536	525	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1156498705	525	R>W		No	TOPMed gnomAD
rs375958267	526	A>E		No	ESP ExAC TOPMed gnomAD
rs375958267	526	A>V		No	ESP ExAC TOPMed gnomAD
rs2086510257	527	V>M		No	TOPMed
rs1369746955	528	L>P		No	TOPMed
rs148402356	531	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs148402356	531	T>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2086509890	532	S>T		No	TOPMed
rs1349699176	533	Q>R		No	TOPMed gnomAD
rs1465463131	534	I>N		No	TOPMed gnomAD
rs2144673405	534	I>V		No	Ensembl
rs2086509732	535	N>K		No	TOPMed
rs750772093	537	M>R		No	ExAC gnomAD
rs1675710073	538	L>V		No	gnomAD
rs1321249455	540	D>N		No	gnomAD
rs1263198344	541	L>F		No	TOPMed gnomAD
rs1489154540	543	R>C		No	TOPMed gnomAD
rs34768020	543	R>H		No	TOPMed gnomAD
rs34768020	543	R>L		No	TOPMed gnomAD
rs1019838186 COSM1720248	544	V>M	NS Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed
rs374306506	546	F>L		No	ESP ExAC TOPMed gnomAD
rs2086509138	547	A>P		No	Ensembl
TCGA novel	548	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM72413 rs140937075	549	V>L	ovary [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs140937075	549	V>M		No	ESP ExAC TOPMed gnomAD
rs1388864598	550	Q>R		No	gnomAD
rs1232995697	551	E>D		No	gnomAD
rs779165901	554	S>L		No	ExAC TOPMed gnomAD
rs779165901	554	S>W		No	ExAC TOPMed gnomAD
rs1599838648	557	C>G		No	Ensembl
rs932827933	560	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs932827933	560	E>Q		No	gnomAD
rs764525257	561	E>Q		No	ExAC gnomAD
COSM4988444 rs767084173	566	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs752282450	566	R>W		No	ExAC TOPMed gnomAD
rs2144671305	567	L>V		No	Ensembl
rs759091592	568	E>G		No	ExAC gnomAD
rs2086495338	572	K>R		No	TOPMed
rs2086495291	573	L>M		No	TOPMed gnomAD
rs1599838615	574	T>P		No	Ensembl
rs766047985	576	Q>H		No	ExAC TOPMed gnomAD
rs2144671259	579	S>R		No	Ensembl
TCGA novel	581	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1177865213	582	D>G		No	TOPMed
rs1471631419	582	D>N		No	gnomAD
rs1251257330	583	Q>E		No	gnomAD
rs762714471	585	A>V		No	ExAC gnomAD
rs202077830	586	S>G		No	1000Genomes
rs202077830	586	S>R		No	1000Genomes
TCGA novel	587	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs773001870	587	W>C		No	ExAC TOPMed gnomAD
rs1484285341	588	L>M		No	gnomAD
rs1388547487	588	L>P		No	TOPMed
rs998933350	590	S>I		No	TOPMed gnomAD
rs761689999	592	V>I		No	ExAC TOPMed gnomAD
rs776529890	594	Q>H		No	ExAC TOPMed gnomAD
rs1256193810	595	V>F		No	TOPMed gnomAD
rs1256193810	595	V>I		No	TOPMed gnomAD
rs2086494497	599	H>N		No	TOPMed
rs1281582394	599	H>Q		No	TOPMed
COSM440571	600	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs768839695	601	G>D		No	ExAC TOPMed gnomAD
rs200411386	601	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs771131239	603	P>H		No	ExAC TOPMed gnomAD
rs771131239	603	P>L		No	ExAC TOPMed gnomAD
rs201303271	603	P>S		No	ExAC TOPMed gnomAD
rs1395215898	606	P>H		No	gnomAD
rs2086493896	608	A>T		No	Ensembl
rs753304252	609	A>S		No	ExAC TOPMed gnomAD
rs753304252	609	A>T		No	ExAC TOPMed gnomAD
rs17852566 VAR_058416	610	R>Q		No	UniProt TOPMed dbSNP gnomAD
COSM1287599	614	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs781754118	616	W>*		No	ExAC TOPMed gnomAD
rs1266308134	617	S>C		No	TOPMed gnomAD
rs1568498338	618	F>L		No	gnomAD
rs779567495	621	S>A		No	ExAC gnomAD
COSM3540839	621	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs757826142	622	M>T		No	ExAC TOPMed gnomAD
rs1406055985	623	V>M		No	gnomAD
rs1167314207	625	R>Q		No	gnomAD
rs1393448632	625	R>W		No	TOPMed gnomAD
rs1429473958	628	T>N		No	gnomAD
rs1470912312	630	R>H		No	gnomAD
rs1476156268	632	A>T		No	TOPMed gnomAD
rs1206577796	633	A>P		No	Ensembl
rs1206577796	633	A>S		No	Ensembl
rs1451726608	636	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1182100552	642	R>C		No	TOPMed gnomAD
rs760625463	642	R>H		No	ExAC TOPMed gnomAD
rs1275019229	645	Y>C		No	gnomAD
rs2086424543 COSM3540838	645	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed
rs1343090482	646	D>N		No	gnomAD
rs1240924572	647	E>K		No	Ensembl
rs766526459	649	M>I		No	ExAC TOPMed gnomAD
rs1347507848	649	M>V		No	gnomAD
rs770125931	656	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs571540930 COSM215800	656	R>H	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1015514275	657	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1340706543	658	A>T		No	TOPMed gnomAD
rs2086423546 COSM2727010	658	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed gnomAD
rs757994512	659	E>K		No	ExAC gnomAD
rs753667887 COSM5076740	662	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs781066965	664	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	665	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs752717015	666	I>V		No	ExAC gnomAD
rs763149352	667	A>T		No	ExAC TOPMed gnomAD
rs773367141	667	A>V		No	ExAC gnomAD
rs1348609972	670	G>E		No	TOPMed gnomAD
COSM3540837	671	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1568494930	674	D>E		No	Ensembl
rs373007421 COSM1002810	674	D>N	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs561826046	676	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs1433974834	676	A>V		No	gnomAD
rs565959888	677	S>T		No	TOPMed gnomAD
TCGA novel	679	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2144654788	680	L>P		No	Ensembl
rs772669666	681	T>M		No	ExAC TOPMed gnomAD
TCGA novel	682	L>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1164184581	682	L>P		No	gnomAD
rs1051684540	683	L>I		No	TOPMed gnomAD
rs997459706	684	D>E		No	Ensembl
rs575841631	684	D>H		No	1000Genomes ExAC TOPMed gnomAD
rs575841631	684	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs1189503300	685	K>T		No	TOPMed gnomAD
rs2086384931	686	D>E		No	Ensembl
rs753979641	687	D>G		No	ExAC TOPMed gnomAD
rs1411842815	688	M>I		No	gnomAD
rs1178627209	688	M>L		No	TOPMed gnomAD
rs546787693	688	M>T		No	1000Genomes ExAC TOPMed gnomAD
rs1178627209	688	M>V		No	TOPMed gnomAD
rs1389846007	690	D>G		No	TOPMed gnomAD
rs752898255	690	D>N		No	ExAC TOPMed gnomAD
rs767725608	691	E>K		No	ExAC TOPMed gnomAD
rs1568494503	692	Q>K		No	Ensembl
rs1460570881	693	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs200247864	693	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs766879006	695	S>N		No	ExAC gnomAD
rs35216341	696	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs761381900	697	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs893343323	699	P>L		No	TOPMed gnomAD
rs1053405905	700	D>E		No	TOPMed gnomAD
rs1307700594	700	D>H		No	TOPMed
rs1307700594	700	D>N		No	TOPMed
rs572331232	701	A>S		No	ExAC TOPMed gnomAD
rs572331232	701	A>T		No	ExAC TOPMed gnomAD
rs746803880	702	R>C		No	ExAC TOPMed gnomAD
rs746803880	702	R>G		No	ExAC TOPMed gnomAD
rs141415407	702	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs141415407	702	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2086383716	705	G>V		No	Ensembl
rs2086383483	707	P>H		No	gnomAD
rs1342606754	707	P>S		No	TOPMed gnomAD
rs201624677	711	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs148287868	711	R>W		No	ESP ExAC TOPMed gnomAD
rs200591366	712	E>Q		No	Ensembl
rs1185124896	713	R>C		No	TOPMed gnomAD
rs1185124896	713	R>G		No	TOPMed gnomAD
rs769353990	713	R>H		No	ExAC TOPMed gnomAD
rs781408650	714	S>C		No	ExAC TOPMed gnomAD
rs781408650	714	S>G		No	ExAC TOPMed gnomAD
rs755129551	714	S>I		No	ExAC TOPMed gnomAD
rs755129551	714	S>N		No	ExAC TOPMed gnomAD
rs2086382759	716	P>L		No	TOPMed gnomAD
rs1263634343	717	N>K		No	TOPMed gnomAD
rs1352700610	717	N>S		No	gnomAD
rs1383309723	718	H>R		No	TOPMed gnomAD
rs751954291	718	H>Y		No	ExAC TOPMed gnomAD
rs1317420488	719	S>P		No	TOPMed gnomAD
rs766682756	721	Q>P		No	ExAC TOPMed gnomAD
rs766682756	721	Q>R		No	ExAC TOPMed gnomAD
rs750934370	722	G>D		No	ExAC TOPMed gnomAD
rs1319022824	722	G>S		No	gnomAD
rs1568494383	723	I>T		No	Ensembl
rs1281000949	724	I>W		No	TOPMed gnomAD

No associated diseases with P48378

4 regional properties for P48378

Type	Name	Position	InterPro Accession
domain	Formin, FH3 domain	231 - 435	IPR010472
domain	Formin, GTPase-binding domain	40 - 228	IPR010473
domain	Diaphanous autoregulatory (DAD) domain	1016 - 1048	IPR014767
domain	Formin, FH2 domain	595 - 1038	IPR015425

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm	Mainly expressed in the nucleus and at lower level in cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.

6 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA-binding transcription activator activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor activity	A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.

5 GO annotations of biological process

Name	Definition
acrosome assembly	The formation of the acrosome from the spermatid Golgi.
cellular response to leukemia inhibitory factor	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a leukemia inhibitory factor stimulus.
cilium assembly	The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
spermatid development	The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P22670	RFX1	MHC class II regulatory factor RFX1	Homo sapiens (Human)	EV
P48380	RFX3	Transcription factor RFX3	Homo sapiens (Human)	SS
P48377	Rfx1	MHC class II regulatory factor RFX1	Mus musculus (Mouse)	SS
P48381	Rfx3	Transcription factor RFX3	Mus musculus (Mouse)	SS
Q0V9K5	rfx3	Transcription factor RFX3	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	SS

10	20	30	40	50	60
MQNSEGGADS	PASVALRPSA	AAPPVPASPQ	RVLVQAASSN	PKGAQMQPIS	LPRVQQVPQQ
70	80	90	100	110	120
VQPVQHVYPA	QVQYVEGGDA	VYTNGAIRTA	YTYNPEPQMY	APSSTASYFE	APGGAQVTVA
130	140	150	160	170	180
ASSPPAVPSH	SMVGITMDVG	GSPIVSSAGA	YLIHGGMDST	RHSLAHTSRS	SPATLEMAIE
190	200	210	220	230	240
NLQKSEGITS	HKSGLLNSHL	QWLLDNYETA	EGVSLPRSSL	YNHYLRHCQE	HKLDPVNAAS
250	260	270	280	290	300
FGKLIRSVFM	GLRTRRLGTR	GNSKYHYYGI	RLKPDSPLNR	LQEDTQYMAM	RQQPMHQKPR
310	320	330	340	350	360
YRPAQKTDSL	GDSGSHSGLH	STPEQTMAVQ	SQHHQQYIDV	SHVFPEFPAP	DLGSFLLQDG
370	380	390	400	410	420
VTLHDVKALQ	LVYRRHCEAT	VDVVMNLQFH	YIEKLWLSFW	NSKASSSDGP	TSLPASDEDP
430	440	450	460	470	480
EGAVLPKDKL	ISLCQCDPIL	RWMRSCDHIL	YQALVEILIP	DVLRPVPSTL	TQAIRNFAKS
490	500	510	520	530	540
LEGWLTNAMS	DFPQQVIQTK	VGVVSAFAQT	LRRYTSLNHL	AQAARAVLQN	TSQINQMLSD
550	560	570	580	590	600
LNRVDFANVQ	EQASWVCQCE	ESVVQRLEQD	FKLTLQQQSS	LDQWASWLDS	VVTQVLKQHA
610	620	630	640	650	660
GSPSFPKAAR	QFLLKWSFYS	SMVIRDLTLR	SAASFGSFHL	IRLLYDEYMF	YLVEHRVAEA
670	680	690	700	710	720
TGETPIAVMG	EFNDLASLSL	TLLDKDDMGD	EQRGSEAGPD	ARSLGEPLVK	RERSDPNHSL

QGI