CleftGeneDB-Search

Gene: FOXG1

Basic information

Tag	Content
Uniprot ID	P55316; A6NFY2; P55315; Q14488; Q86XT7;
Entrez ID	2290
Genbank protein ID	CAA55038.1; CAA52240.1; EAW65978.1; AAH50072.1; CAA52239.1; CAA52241.1;
Genbank nucleotide ID	NM_005249.4
Ensembl protein ID	ENSP00000339004
Ensembl nucleotide ID	ENSG00000176165
Gene name	Forkhead box protein G1
Gene symbol	FOXG1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26868259
Functional description	Transcription repression factor which plays an important role in the establishment of the regional subdivision of the developing brain and in the development of the telencephalon.
Sequence	MLDMGDRKEV KMIPKSSFSI NSLVPEAVQN DNHHASHGHH NSHHPQHHHH HHHHHHHPPP 60 PAPQPPPPPQ QQQPPPPPPP APQPPQTRGA PAADDDKGPQ QLLLPPPPPP PPAAALDGAK 120 ADGLGGKGEP GGGPGELAPV GPDEKEKGAG AGGEEKKGAG EGGKDGEGGK EGEKKNGKYE 180 KPPFSYNALI MMAIRQSPEK RLTLNGIYEF IMKNFPYYRE NKQGWQNSIR HNLSLNKCFV 240 KVPRHYDDPG KGNYWMLDPS SDDVFIGGTT GKLRRRSTTS RAKLAFKRGA RLTSTGLTFM 300 DRAGSLYWPM SPFLSLHHPR ASSTLSYNGT TSAYPSHPMP YSSVLTQNSL GNNHSFSTAN 360 GLSVDRLVNG EIPYATHHLT AAALAASVPC GLSVPCSGTY SLNPCSVNLL AGQTSYFFPH 420 VPHPSMTSQS STSMSARAAS SSTSPQAPST LPCESLRPSL PSFTTGLSGG LSDYFTHQNQ 480 GSSSNPLIH 489

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	FOXG1		A0A452FP40	Capra hircus	Prediction	More>>
1:1 ortholog	FOXG1	2290	P55316	Homo sapiens	Publication	More>>
1:1 ortholog	Foxg1	15228	Q60987	Mus musculus	Prediction	More>>
1:1 ortholog	FOXG1	467416	H2R9E1	Pan troglodytes	Prediction	More>>
1:1 ortholog	FOXG1		A0A287A2J5	Sus scrofa	Prediction	More>>
1:1 ortholog	Foxg1	24370	Q00939	Rattus norvegicus	Prediction	More>>
1:1 ortholog	foxg1a	30274	Q568V0	Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs776244220	p.Leu2Met	missense variant	-	NC_000014.9:g.28767283C>A	ExAC,TOPMed,gnomAD
rs761420014	p.Asp3Val	missense variant	-	NC_000014.9:g.28767287A>T	ExAC,gnomAD
rs761420014	p.Asp3Ala	missense variant	-	NC_000014.9:g.28767287A>C	ExAC,gnomAD
rs1466463571	p.Met4Val	missense variant	-	NC_000014.9:g.28767289A>G	TOPMed,gnomAD
rs1466463571	p.Met4Leu	missense variant	-	NC_000014.9:g.28767289A>T	TOPMed,gnomAD
rs1333660434	p.Gly5Val	missense variant	-	NC_000014.9:g.28767293G>T	gnomAD
NCI-TCGA novel	p.Asp6Asn	missense variant	-	NC_000014.9:g.28767295G>A	NCI-TCGA
rs772990946	p.Glu9Ala	missense variant	-	NC_000014.9:g.28767305A>C	ExAC,gnomAD
COSM4829530	p.Glu9Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767304G>C	NCI-TCGA Cosmic
rs1390986068	p.Glu9Lys	missense variant	-	NC_000014.9:g.28767304G>A	gnomAD
rs1235342890	p.Val10Met	missense variant	-	NC_000014.9:g.28767307G>A	gnomAD
rs1259645564	p.Lys15Thr	missense variant	-	NC_000014.9:g.28767323A>C	gnomAD
rs1176748250	p.Ser19Asn	missense variant	-	NC_000014.9:g.28767335G>A	TOPMed
rs1344440643	p.Ala27Gly	missense variant	-	NC_000014.9:g.28767359C>G	gnomAD
rs1053995886	p.Asn30Ser	missense variant	-	NC_000014.9:g.28767368A>G	TOPMed,gnomAD
rs1429160286	p.Asn32Ser	missense variant	-	NC_000014.9:g.28767374A>G	gnomAD
rs1429160286	p.Asn32Thr	missense variant	-	NC_000014.9:g.28767374A>C	gnomAD
rs895309846	p.His33Tyr	missense variant	-	NC_000014.9:g.28767376C>T	TOPMed
rs1478379479	p.His33Arg	missense variant	-	NC_000014.9:g.28767377A>G	gnomAD
rs895309846	p.His33Asn	missense variant	-	NC_000014.9:g.28767376C>A	TOPMed
rs1478379479	p.His33Pro	missense variant	-	NC_000014.9:g.28767377A>C	gnomAD
rs767463607	p.Ala35Thr	missense variant	-	NC_000014.9:g.28767382G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala35Val	missense variant	-	NC_000014.9:g.28767383C>T	NCI-TCGA
rs1485562256	p.Ala35Gly	missense variant	-	NC_000014.9:g.28767383C>G	TOPMed
rs543211742	p.Gly38Val	missense variant	-	NC_000014.9:g.28767392G>T	1000Genomes,ExAC,TOPMed
rs1221581928	p.His39Arg	missense variant	-	NC_000014.9:g.28767395A>G	TOPMed
NCI-TCGA novel	p.His39Tyr	missense variant	-	NC_000014.9:g.28767394C>T	NCI-TCGA
rs1047101653	p.His40Asn	missense variant	-	NC_000014.9:g.28767397C>A	TOPMed,gnomAD
rs565419356	p.Ser42Thr	missense variant	-	NC_000014.9:g.28767404G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs565419356	p.Ser42Asn	missense variant	-	NC_000014.9:g.28767404G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1555321183	p.His44Pro	missense variant	-	NC_000014.9:g.28767410A>C	-
rs796052446	p.His44Gln	missense variant	-	NC_000014.9:g.28767411C>A	-
rs758601231	p.His44Tyr	missense variant	-	NC_000014.9:g.28767409C>T	ExAC,gnomAD
RCV000522323	p.His44Pro	missense variant	-	NC_000014.9:g.28767410A>C	ClinVar
RCV000187426	p.His44Gln	missense variant	-	NC_000014.9:g.28767411C>A	ClinVar
rs780437753	p.Pro45Leu	missense variant	-	NC_000014.9:g.28767413C>T	ExAC
rs786205000	p.Gln46Ter	stop gained	-	NC_000014.9:g.28767415C>T	-
RCV000170071	p.Gln46Ter	nonsense	-	NC_000014.9:g.28767415C>T	ClinVar
RCV000187470	p.Gln46Ter	frameshift	-	NC_000014.9:g.28767415dup	ClinVar
RCV000145981	p.Gln46Ter	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767414_28767415dup	ClinVar
rs1183504841	p.His48Asp	missense variant	-	NC_000014.9:g.28767421C>G	TOPMed
rs769147287	p.His49Tyr	missense variant	-	NC_000014.9:g.28767424C>T	ExAC,gnomAD
rs1255838501	p.His50Pro	missense variant	-	NC_000014.9:g.28767428A>C	TOPMed
rs963161057	p.His51Gln	missense variant	-	NC_000014.9:g.28767432C>G	TOPMed
RCV000145983	p.His57Ter	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767449_28767458del	ClinVar
RCV000441568	p.His57Gln	missense variant	-	NC_000014.9:g.28767450C>A	ClinVar
rs1057522121	p.His57Gln	missense variant	-	NC_000014.9:g.28767450C>A	-
rs772898039	p.Pro59Leu	missense variant	-	NC_000014.9:g.28767455C>T	ExAC
rs1219590722	p.Pro60Ser	missense variant	-	NC_000014.9:g.28767457C>T	gnomAD
rs1488919198	p.Pro61Leu	missense variant	-	NC_000014.9:g.28767461C>T	gnomAD
rs762634382	p.Pro61Ser	missense variant	-	NC_000014.9:g.28767460C>T	ExAC,TOPMed,gnomAD
RCV000584984	p.Pro61Ser	missense variant	-	NC_000014.9:g.28767460C>T	ClinVar
rs1403129906	p.Ala62Asp	missense variant	-	NC_000014.9:g.28767464C>A	TOPMed
NCI-TCGA novel	p.Ala62Val	missense variant	-	NC_000014.9:g.28767464C>T	NCI-TCGA
rs1288532385	p.Pro63Ser	missense variant	-	NC_000014.9:g.28767466C>T	TOPMed
rs796052478	p.Pro63Arg	missense variant	-	NC_000014.9:g.28767467C>G	TOPMed,gnomAD
RCV000187480	p.Pro63Arg	missense variant	-	NC_000014.9:g.28767467C>G	ClinVar
RCV000524001	p.Pro63Ter	frameshift	-	NC_000014.9:g.28767456_28767465dup	ClinVar
RCV000648316	p.Pro63Ter	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767456_28767465dup	ClinVar
rs1165833768	p.Pro65Ser	missense variant	-	NC_000014.9:g.28767472C>T	gnomAD
rs770519636	p.Pro65Arg	missense variant	-	NC_000014.9:g.28767473C>G	ExAC,TOPMed
rs1422876736	p.Pro67Leu	missense variant	-	NC_000014.9:g.28767479C>T	TOPMed,gnomAD
rs796052479	p.Pro68Ser	missense variant	-	NC_000014.9:g.28767481C>T	gnomAD
RCV000439868	p.Pro68Ser	missense variant	-	NC_000014.9:g.28767481C>T	ClinVar
rs727503933	p.Pro69Gln	missense variant	-	NC_000014.9:g.28767485C>A	ExAC,TOPMed
RCV000552489	p.Pro69Gln	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767485C>A	ClinVar
rs587783633	p.Gln70Arg	missense variant	-	NC_000014.9:g.28767488A>G	ExAC,TOPMed,gnomAD
RCV000576256	p.Gln70Pro	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767488A>C	ClinVar
rs587783633	p.Gln70Pro	missense variant	-	NC_000014.9:g.28767488A>C	ExAC,TOPMed,gnomAD
rs1555321237	p.Gln72Ter	stop gained	-	NC_000014.9:g.28767493C>T	-
RCV000576162	p.Gln72Ter	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28767493C>T	ClinVar
rs760663911	p.Gln73Pro	missense variant	-	NC_000014.9:g.28767497A>C	ExAC,TOPMed
RCV000187450	p.Gln73Ter	nonsense	-	NC_000014.9:g.28767496C>T	ClinVar
rs796052458	p.Gln73Ter	stop gained	-	NC_000014.9:g.28767496C>T	-
RCV000724697	p.Gln73Pro	missense variant	-	NC_000014.9:g.28767497A>C	ClinVar
rs796052452	p.Pro74Gln	missense variant	-	NC_000014.9:g.28767500C>A	TOPMed,gnomAD
RCV000187437	p.Pro74Gln	missense variant	-	NC_000014.9:g.28767500C>A	ClinVar
rs796052452	p.Pro74Leu	missense variant	-	NC_000014.9:g.28767500C>T	TOPMed,gnomAD
rs924025541	p.Pro75Thr	missense variant	-	NC_000014.9:g.28767502C>A	TOPMed
rs1381438340	p.Pro76Gln	missense variant	-	NC_000014.9:g.28767506C>A	gnomAD
rs1313046455	p.Pro77Leu	missense variant	-	NC_000014.9:g.28767509C>T	TOPMed,gnomAD
rs1313046455	p.Pro77Gln	missense variant	-	NC_000014.9:g.28767509C>A	TOPMed,gnomAD
RCV000187487	p.Pro77Ter	frameshift	-	NC_000014.9:g.28767504_28767505delinsACCG	ClinVar
rs1210322995	p.Pro78Ala	missense variant	-	NC_000014.9:g.28767511C>G	TOPMed
rs936732769	p.Pro78Leu	missense variant	-	NC_000014.9:g.28767512C>T	TOPMed,gnomAD
rs936732769	p.Pro78Gln	missense variant	-	NC_000014.9:g.28767512C>A	TOPMed,gnomAD
rs1353726915	p.Pro79His	missense variant	-	NC_000014.9:g.28767515C>A	gnomAD
rs1054291031	p.Pro79Ser	missense variant	-	NC_000014.9:g.28767514C>T	TOPMed,gnomAD
rs1054291031	p.Pro79Thr	missense variant	-	NC_000014.9:g.28767514C>A	TOPMed,gnomAD
rs1240859292	p.Ala81Thr	missense variant	-	NC_000014.9:g.28767520G>A	gnomAD
RCV000187474	p.Ala81Ter	frameshift	-	NC_000014.9:g.28767518dup	ClinVar
rs796052453	p.Pro82Gln	missense variant	-	NC_000014.9:g.28767524C>A	TOPMed,gnomAD
RCV000716271	p.Pro82Gln	missense variant	History of neurodevelopmental disorder	NC_000014.9:g.28767524C>A	ClinVar
RCV000648322	p.Pro82Gln	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767524C>A	ClinVar
rs866815665	p.Pro84Leu	missense variant	-	NC_000014.9:g.28767530C>T	TOPMed,gnomAD
RCV000312432	p.Pro84Arg	missense variant	-	NC_000014.9:g.28767530C>G	ClinVar
RCV000544943	p.Pro84Arg	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767530C>G	ClinVar
RCV000585314	p.Pro84His	missense variant	-	NC_000014.9:g.28767530C>A	ClinVar
rs866815665	p.Pro84Arg	missense variant	-	NC_000014.9:g.28767530C>G	TOPMed,gnomAD
rs866815665	p.Pro84His	missense variant	-	NC_000014.9:g.28767530C>A	TOPMed,gnomAD
rs398124202	p.Gln86Glu	missense variant	-	NC_000014.9:g.28767535C>G	TOPMed
RCV000081279	p.Gln86Lys	missense variant	-	NC_000014.9:g.28767535C>A	ClinVar
RCV000436439	p.Gln86Glu	missense variant	-	NC_000014.9:g.28767535C>G	ClinVar
RCV000187488	p.Gln86Ter	frameshift	-	NC_000014.9:g.28767535dup	ClinVar
RCV000692323	p.Gln86Lys	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767535C>A	ClinVar
RCV000170072	p.Gln86Ter	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28767535C>T	ClinVar
RCV000170073	p.Gln86Ter	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767535del	ClinVar
rs398124202	p.Gln86Lys	missense variant	-	NC_000014.9:g.28767535C>A	TOPMed
RCV000187475	p.Gln86Ter	frameshift	-	NC_000014.9:g.28767535del	ClinVar
RCV000170074	p.Gln86Ter	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767535dup	ClinVar
rs398124202	p.Gln86Ter	stop gained	-	NC_000014.9:g.28767535C>T	TOPMed
RCV000716686	p.Thr87Pro	missense variant	History of neurodevelopmental disorder	NC_000014.9:g.28767538A>C	ClinVar
rs1046668279	p.Arg88Gln	missense variant	-	NC_000014.9:g.28767542G>A	TOPMed
RCV000145987	p.Arg88Ter	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767542_28767557del	ClinVar
RCV000607252	p.Arg88Gln	missense variant	-	NC_000014.9:g.28767542G>A	ClinVar
rs906816341	p.Ala90Thr	missense variant	-	NC_000014.9:g.28767547G>A	TOPMed
RCV000440344	p.Ala90Ser	missense variant	-	NC_000014.9:g.28767547G>T	ClinVar
rs906816341	p.Ala90Ser	missense variant	-	NC_000014.9:g.28767547G>T	TOPMed
rs1555321245	p.Pro91Thr	missense variant	-	NC_000014.9:g.28767550C>A	-
RCV000542747	p.Pro91Thr	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767550C>A	ClinVar
rs1057520147	p.Ala92Val	missense variant	-	NC_000014.9:g.28767554C>T	TOPMed
RCV000685886	p.Ala92Val	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767554C>T	ClinVar
RCV000429748	p.Ala92Val	missense variant	-	NC_000014.9:g.28767554C>T	ClinVar
rs1443045749	p.Ala93Thr	missense variant	-	NC_000014.9:g.28767556G>A	gnomAD
rs1206977063	p.Asp94Ala	missense variant	-	NC_000014.9:g.28767560A>C	TOPMed
rs1386898320	p.Asp94Asn	missense variant	-	NC_000014.9:g.28767559G>A	TOPMed,gnomAD
RCV000701496	p.Asp94Ala	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767560A>C	ClinVar
rs1384097436	p.Asp96Gly	missense variant	-	NC_000014.9:g.28767566A>G	TOPMed,gnomAD
rs1384097436	p.Asp96Ala	missense variant	-	NC_000014.9:g.28767566A>C	TOPMed,gnomAD
rs1233841978	p.Pro99Leu	missense variant	-	NC_000014.9:g.28767575C>T	TOPMed
RCV000187476	p.Gln100Ter	frameshift	-	NC_000014.9:g.28767577del	ClinVar
RCV000145988	p.Gln100Ter	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767577del	ClinVar
rs1161288100	p.Gln101His	missense variant	-	NC_000014.9:g.28767582G>T	gnomAD
rs1276635464	p.Leu103Gln	missense variant	-	NC_000014.9:g.28767587T>A	TOPMed
rs765282843	p.Pro107Thr	missense variant	-	NC_000014.9:g.28767598C>A	ExAC,gnomAD
rs1313908557	p.Pro109Thr	missense variant	-	NC_000014.9:g.28767604C>A	TOPMed,gnomAD
RCV000723692	p.Pro109Leu	missense variant	-	NC_000014.9:g.28767605C>T	ClinVar
rs398124203	p.Pro109Leu	missense variant	-	NC_000014.9:g.28767605C>T	TOPMed,gnomAD
rs1313908557	p.Pro109Ser	missense variant	-	NC_000014.9:g.28767604C>T	TOPMed,gnomAD
rs1285352804	p.Pro112Leu	missense variant	-	NC_000014.9:g.28767614C>T	gnomAD
RCV000612307	p.Pro112Leu	missense variant	-	NC_000014.9:g.28767614C>T	ClinVar
rs796052454	p.Ala115Val	missense variant	-	NC_000014.9:g.28767623C>T	TOPMed,gnomAD
RCV000187440	p.Ala115Val	missense variant	-	NC_000014.9:g.28767623C>T	ClinVar
rs796052454	p.Ala115Gly	missense variant	-	NC_000014.9:g.28767623C>G	TOPMed,gnomAD
rs1282829898	p.Asp117Asn	missense variant	-	NC_000014.9:g.28767628G>A	gnomAD
rs1316867873	p.Gly118Arg	missense variant	-	NC_000014.9:g.28767631G>A	gnomAD
rs796052459	p.Ala119Ser	missense variant	-	NC_000014.9:g.28767634G>T	TOPMed,gnomAD
RCV000187452	p.Ala119Ser	missense variant	-	NC_000014.9:g.28767634G>T	ClinVar
rs1460217602	p.Lys120Ile	missense variant	-	NC_000014.9:g.28767638A>T	gnomAD
rs1184220259	p.Ala121Ser	missense variant	-	NC_000014.9:g.28767640G>T	TOPMed
rs758610493	p.Gly123Arg	missense variant	-	NC_000014.9:g.28767646G>A	ExAC,TOPMed,gnomAD
rs758610493	p.Gly123Arg	missense variant	-	NC_000014.9:g.28767646G>C	ExAC,TOPMed,gnomAD
rs796052455	p.Gly126Ser	missense variant	-	NC_000014.9:g.28767655G>A	TOPMed,gnomAD
RCV000695180	p.Gly126Ser	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767655G>A	ClinVar
rs1029176730	p.Gly128Cys	missense variant	-	NC_000014.9:g.28767661G>T	TOPMed
rs1555321264	p.Glu129Ter	stop gained	-	NC_000014.9:g.28767664G>T	-
RCV000519730	p.Glu129Ter	nonsense	-	NC_000014.9:g.28767664G>T	ClinVar
RCV000187478	p.Glu129Ter	frameshift	-	NC_000014.9:g.28767662dup	ClinVar
RCV000761871	p.Pro134Ser	missense variant	-	NC_000014.9:g.28767679C>T	ClinVar
RCV000187479	p.Pro134Ter	frameshift	-	NC_000014.9:g.28767678del	ClinVar
rs1350013753	p.Gly135Val	missense variant	-	NC_000014.9:g.28767683G>T	TOPMed
RCV000702418	p.Glu136Ter	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767686_28767737del	ClinVar
RCV000425305	p.Glu136Ter	nonsense	-	NC_000014.9:g.28767685G>T	ClinVar
rs1057520663	p.Glu136Ter	stop gained	-	NC_000014.9:g.28767685G>T	-
rs1230766273	p.Ala138Thr	missense variant	-	NC_000014.9:g.28767691G>A	TOPMed
rs1335718381	p.Pro139Ser	missense variant	-	NC_000014.9:g.28767694C>T	gnomAD
rs1400545711	p.Val140Ile	missense variant	-	NC_000014.9:g.28767697G>A	gnomAD
rs755388144	p.Asp143Glu	missense variant	-	NC_000014.9:g.28767708C>G	ExAC,TOPMed,gnomAD
rs755388144	p.Asp143Glu	missense variant	-	NC_000014.9:g.28767708C>A	ExAC,TOPMed,gnomAD
rs797045583	p.Glu144Lys	missense variant	-	NC_000014.9:g.28767709G>A	-
RCV000704363	p.Glu144Asp	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767711G>C	ClinVar
rs547825816	p.Glu144Asp	missense variant	-	NC_000014.9:g.28767711G>C	1000Genomes,TOPMed,gnomAD
RCV000766682	p.Glu144Lys	missense variant	-	NC_000014.9:g.28767709G>A	ClinVar
RCV000192946	p.Glu144Lys	missense variant	-	NC_000014.9:g.28767709G>A	ClinVar
rs1555321279	p.Glu146Ter	stop gained	-	NC_000014.9:g.28767715G>T	-
RCV000497737	p.Glu146Ter	nonsense	-	NC_000014.9:g.28767715G>T	ClinVar
RCV000437019	p.Glu146Gly	missense variant	-	NC_000014.9:g.28767716A>G	ClinVar
rs923912596	p.Glu146Val	missense variant	-	NC_000014.9:g.28767716A>T	TOPMed
rs923912596	p.Glu146Gly	missense variant	-	NC_000014.9:g.28767716A>G	TOPMed
rs1417091060	p.Lys147Arg	missense variant	-	NC_000014.9:g.28767719A>G	TOPMed
rs781726187	p.Gly148Val	missense variant	-	NC_000014.9:g.28767722G>T	ExAC,gnomAD
rs1439805594	p.Gly148Cys	missense variant	-	NC_000014.9:g.28767721G>T	gnomAD
rs781726187	p.Gly148Asp	missense variant	-	NC_000014.9:g.28767722G>A	ExAC,gnomAD
rs748639652	p.Ala149Val	missense variant	-	NC_000014.9:g.28767725C>T	ExAC,gnomAD
rs1191765711	p.Gly150Ser	missense variant	-	NC_000014.9:g.28767727G>A	gnomAD
rs1237893902	p.Ala151Val	missense variant	-	NC_000014.9:g.28767731C>T	TOPMed
rs796052460	p.Gly152Glu	missense variant	-	NC_000014.9:g.28767734G>A	TOPMed,gnomAD
rs1365260962	p.Gly152Arg	missense variant	-	NC_000014.9:g.28767733G>A	gnomAD
RCV000648317	p.Gly152Ala	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767734G>C	ClinVar
RCV000187453	p.Gly152Glu	missense variant	-	NC_000014.9:g.28767734G>A	ClinVar
rs796052460	p.Gly152Ala	missense variant	-	NC_000014.9:g.28767734G>C	TOPMed,gnomAD
rs1555321286	p.Gly153Val	missense variant	-	NC_000014.9:g.28767737G>T	-
RCV000585847	p.Gly153Val	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767737G>T	ClinVar
rs1289828874	p.Glu154Gly	missense variant	-	NC_000014.9:g.28767740A>G	TOPMed
rs1057520780	p.Glu154Ter	stop gained	-	NC_000014.9:g.28767739G>T	-
RCV000715099	p.Glu154Ter	frameshift	History of neurodevelopmental disorder	NC_000014.9:g.28767739dup	ClinVar
RCV000170075	p.Glu154Ter	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767739dup	ClinVar
RCV000209851	p.Glu154Ter	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767739del	ClinVar
RCV000414502	p.Glu154Ter	frameshift	-	NC_000014.9:g.28767739del	ClinVar
RCV000081281	p.Glu154Ter	frameshift	-	NC_000014.9:g.28767739dup	ClinVar
RCV000429306	p.Glu154Ter	nonsense	-	NC_000014.9:g.28767739G>T	ClinVar
rs1411303171	p.Lys156Glu	missense variant	-	NC_000014.9:g.28767745A>G	TOPMed,gnomAD
rs398124205	p.Lys157Asn	missense variant	-	NC_000014.9:g.28767750G>T	TOPMed,gnomAD
rs1326381429	p.Lys157Arg	missense variant	-	NC_000014.9:g.28767749A>G	gnomAD
RCV000681508	p.Lys157Asn	missense variant	-	NC_000014.9:g.28767750G>T	ClinVar
rs1436573424	p.Ala159Ser	missense variant	-	NC_000014.9:g.28767754G>T	gnomAD
rs773880966	p.Ala159Val	missense variant	-	NC_000014.9:g.28767755C>T	ExAC,gnomAD
rs1344152865	p.Gly160Asp	missense variant	-	NC_000014.9:g.28767758G>A	gnomAD
NCI-TCGA novel	p.Gly162Cys	missense variant	-	NC_000014.9:g.28767763G>T	NCI-TCGA
rs775314145	p.Asp165Glu	missense variant	-	NC_000014.9:g.28767774C>A	ExAC,gnomAD
rs1403385097	p.Gly166Arg	missense variant	-	NC_000014.9:g.28767775G>A	gnomAD
rs760578111	p.Gly166Glu	missense variant	-	NC_000014.9:g.28767776G>A	ExAC,gnomAD
rs773297334	p.Glu167Asp	missense variant	-	NC_000014.9:g.28767780G>T	ExAC,TOPMed,gnomAD
RCV000525648	p.Glu167Ter	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767779del	ClinVar
NCI-TCGA novel	p.Glu167Gln	missense variant	-	NC_000014.9:g.28767778G>C	NCI-TCGA
rs148157138	p.Gly168Ala	missense variant	-	NC_000014.9:g.28767782G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148157138	p.Gly168Val	missense variant	-	NC_000014.9:g.28767782G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000719539	p.Gly168Ala	missense variant	History of neurodevelopmental disorder	NC_000014.9:g.28767782G>C	ClinVar
RCV000187444	p.Gly168Ala	missense variant	-	NC_000014.9:g.28767782G>C	ClinVar
RCV000187454	p.Gly168Val	missense variant	-	NC_000014.9:g.28767782G>T	ClinVar
RCV000540363	p.Gly168Ala	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767782G>C	ClinVar
rs530084654	p.Gly169Ser	missense variant	-	NC_000014.9:g.28767784G>A	1000Genomes
rs796052480	p.Gly169Val	missense variant	-	NC_000014.9:g.28767785G>T	TOPMed,gnomAD
rs796052480	p.Gly169Asp	missense variant	-	NC_000014.9:g.28767785G>A	TOPMed,gnomAD
RCV000502824	p.Gly169Ter	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767784_28767785delinsC	ClinVar
RCV000170076	p.Gly169Ter	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767784_28767785delinsT	ClinVar
RCV000187482	p.Gly169Ala	missense variant	-	NC_000014.9:g.28767785G>C	ClinVar
RCV000603964	p.Gly169Val	missense variant	-	NC_000014.9:g.28767785G>T	ClinVar
rs796052480	p.Gly169Ala	missense variant	-	NC_000014.9:g.28767785G>C	TOPMed,gnomAD
RCV000541926	p.Gly169Ter	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767785del	ClinVar
RCV000599217	p.Lys170Ter	frameshift	-	NC_000014.9:g.28767785dup	ClinVar
rs1057517859	p.Glu171Ter	stop gained	-	NC_000014.9:g.28767790G>T	-
RCV000413843	p.Glu171Ter	nonsense	-	NC_000014.9:g.28767790G>T	ClinVar
rs766545074	p.Gly172Asp	missense variant	-	NC_000014.9:g.28767794G>A	ExAC,gnomAD
rs751714163	p.Lys174Arg	missense variant	-	NC_000014.9:g.28767800A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys175Arg	missense variant	-	NC_000014.9:g.28767803A>G	NCI-TCGA
NCI-TCGA novel	p.Lys178Thr	missense variant	-	NC_000014.9:g.28767812A>C	NCI-TCGA
RCV000519246	p.Tyr179Ter	nonsense	-	NC_000014.9:g.28767816C>G	ClinVar
rs1555321301	p.Tyr179Ter	stop gained	-	NC_000014.9:g.28767816C>G	-
rs1555321302	p.Glu180Ter	stop gained	-	NC_000014.9:g.28767817G>T	-
RCV000498138	p.Glu180Ter	nonsense	-	NC_000014.9:g.28767817G>T	ClinVar
rs767961672	p.Lys181Asn	missense variant	-	NC_000014.9:g.28767822G>T	ExAC,gnomAD
RCV000408627	p.Lys181Asn	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767822G>T	ClinVar
rs796052461	p.Pro182Leu	missense variant	-	NC_000014.9:g.28767824C>T	-
RCV000414887	p.Pro182Leu	missense variant	Severe intellectual deficiency	NC_000014.9:g.28767824C>T	ClinVar
rs1167165807	p.Pro183Arg	missense variant	-	NC_000014.9:g.28767827C>G	TOPMed
COSM1369447	p.Pro183Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767827C>T	NCI-TCGA Cosmic
COSM3793634	p.Phe184Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767831C>G	NCI-TCGA Cosmic
rs879255530	p.Ser185Cys	missense variant	-	NC_000014.9:g.28767832A>T	-
RCV000239423	p.Ser185Cys	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767832A>T	ClinVar
RCV000408825	p.Ser185Ile	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767833G>T	ClinVar
rs1057516138	p.Ser185Ile	missense variant	-	NC_000014.9:g.28767833G>T	-
RCV000170077	p.Ser185Ter	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767831dup	ClinVar
rs796052462	p.Asn187Lys	missense variant	-	NC_000014.9:g.28767840C>G	-
NCI-TCGA novel	p.Asn187Thr	missense variant	-	NC_000014.9:g.28767839A>C	NCI-TCGA
RCV000624779	p.Asn187Lys	missense variant	Inborn genetic diseases	NC_000014.9:g.28767840C>G	ClinVar
RCV000255136	p.Asn187Lys	missense variant	-	NC_000014.9:g.28767840C>G	ClinVar
RCV000190704	p.Asn187Lys	missense variant	Inborn genetic diseases	NC_000014.9:g.28767840C>A	ClinVar
rs796052462	p.Asn187Lys	missense variant	-	NC_000014.9:g.28767840C>A	-
RCV000187456	p.Asn187Lys	missense variant	-	NC_000014.9:g.28767840C>A	ClinVar
rs587783638	p.Ala188Gly	missense variant	-	NC_000014.9:g.28767842C>G	-
RCV000145992	p.Ala188Gly	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767842C>G	ClinVar
COSM1252704	p.Ala188Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767842C>T	NCI-TCGA Cosmic
COSM1207416	p.Ala188Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767841G>A	NCI-TCGA Cosmic
RCV000659679	p.Leu189Val	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767844C>G	ClinVar
rs1555321308	p.Leu189Val	missense variant	-	NC_000014.9:g.28767844C>G	-
rs1555321311	p.Met191Ile	missense variant	-	NC_000014.9:g.28767852G>A	-
RCV000522911	p.Met191Ile	missense variant	-	NC_000014.9:g.28767852G>A	ClinVar
NCI-TCGA novel	p.Met191Ile	missense variant	-	NC_000014.9:g.28767852G>C	NCI-TCGA
NCI-TCGA novel	p.Met191Val	missense variant	-	NC_000014.9:g.28767850A>G	NCI-TCGA
VAR_078715	p.Met191Arg	Missense	-	-	UniProt
rs786205005	p.Ala193Thr	missense variant	-	NC_000014.9:g.28767856G>A	-
RCV000170078	p.Ala193Thr	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767856G>A	ClinVar
RCV000624178	p.Ala193Thr	missense variant	Inborn genetic diseases	NC_000014.9:g.28767856G>A	ClinVar
NCI-TCGA novel	p.Arg195Trp	missense variant	-	NC_000014.9:g.28767862C>T	NCI-TCGA
rs1064797030	p.ArgGln195ArgTer	stop gained	-	NC_000014.9:g.28767864_28767865delinsTT	-
rs796052463	p.Gln196Ter	stop gained	-	NC_000014.9:g.28767865C>T	-
RCV000480058	p.Gln196Ter	nonsense	-	NC_000014.9:g.28767864_28767865delinsTT	ClinVar
RCV000187457	p.Gln196Ter	nonsense	-	NC_000014.9:g.28767865C>T	ClinVar
rs745486814	p.Arg201Gly	missense variant	-	NC_000014.9:g.28767880C>G	ExAC,gnomAD
rs786205006	p.Leu204Phe	missense variant	-	NC_000014.9:g.28767889C>T	-
RCV000170079	p.Leu204Phe	missense variant	-	NC_000014.9:g.28767889C>T	ClinVar
rs1284868040	p.Gly206Ser	missense variant	-	NC_000014.9:g.28767895G>A	gnomAD
RCV000014883	p.Tyr208Ter	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28767903C>G	ClinVar
RCV000550163	p.Tyr208Ter	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28767903C>A	ClinVar
rs267606826	p.Tyr208Ter	stop gained	-	NC_000014.9:g.28767903C>A	ExAC,gnomAD
rs267606826	p.Tyr208Ter	stop gained	-	NC_000014.9:g.28767903C>G	ExAC,gnomAD
RCV000760384	p.Tyr208Ter	nonsense	-	NC_000014.9:g.28767903C>G	ClinVar
NCI-TCGA novel	p.Glu209Gly	missense variant	-	NC_000014.9:g.28767905A>G	NCI-TCGA
COSM260984	p.Glu209Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767904G>A	NCI-TCGA Cosmic
COSM3782835	p.Phe210Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767907T>C	NCI-TCGA Cosmic
COSM4050369	p.Ile211Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767911T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met212Ile	missense variant	-	NC_000014.9:g.28767915G>T	NCI-TCGA
NCI-TCGA novel	p.Lys213Asn	missense variant	-	NC_000014.9:g.28767918G>T	NCI-TCGA
RCV000014884	p.Phe215Leu	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767922T>C	ClinVar
rs786204998	p.Phe215Ser	missense variant	-	NC_000014.9:g.28767923_28767924delinsCT	-
RCV000414314	p.Phe215Leu	missense variant	-	NC_000014.9:g.28767924C>G	ClinVar
RCV000170068	p.Phe215Ser	missense variant	-	NC_000014.9:g.28767923_28767924delinsCT	ClinVar
rs1057518165	p.Phe215Leu	missense variant	-	NC_000014.9:g.28767924C>G	gnomAD
rs267606828	p.Phe215Leu	missense variant	-	NC_000014.9:g.28767922T>C	-
rs267606828	p.Phe215Leu	missense variant	Rett syndrome congenital variant (RTTCV)	NC_000014.9:g.28767922T>C	UniProt,dbSNP
VAR_063885	p.Phe215Leu	missense variant	Rett syndrome congenital variant (RTTCV)	NC_000014.9:g.28767922T>C	UniProt
rs548935590	p.Pro216Ser	missense variant	-	NC_000014.9:g.28767925C>T	1000Genomes,ExAC,gnomAD
RCV000187458	p.Tyr217Ter	nonsense	-	NC_000014.9:g.28767930C>G	ClinVar
RCV000339867	p.Tyr217Ter	frameshift	-	NC_000014.9:g.28767927_28767934del	ClinVar
rs796052464	p.Tyr217Ter	stop gained	-	NC_000014.9:g.28767930C>G	-
VAR_078716	p.Tyr217_His489del	inframe_deletion	Rett syndrome congenital variant (RTTCV) [MIM:613454]	-	UniProt
rs1555321323	p.Arg219Gly	missense variant	-	NC_000014.9:g.28767934C>G	-
RCV000585867	p.Arg219Gly	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767934C>G	ClinVar
NCI-TCGA novel	p.Glu220Lys	missense variant	-	NC_000014.9:g.28767937G>A	NCI-TCGA
RCV000187459	p.Gln223Ter	nonsense	-	NC_000014.9:g.28767946C>T	ClinVar
NCI-TCGA novel	p.Gln223His	missense variant	-	NC_000014.9:g.28767948G>T	NCI-TCGA
rs796052465	p.Gln223Ter	stop gained	-	NC_000014.9:g.28767946C>T	-
rs796052481	p.Gly224Asp	missense variant	-	NC_000014.9:g.28767950G>A	-
RCV000187483	p.Gly224Asp	missense variant	-	NC_000014.9:g.28767950G>A	ClinVar
RCV000500932	p.Gly224Ser	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767949G>A	ClinVar
rs727503935	p.Gly224Ser	missense variant	-	NC_000014.9:g.28767949G>A	-
RCV000488331	p.Trp225Ser	missense variant	-	NC_000014.9:g.28767953G>C	ClinVar
rs1064797185	p.Trp225Ser	missense variant	-	NC_000014.9:g.28767953G>C	-
rs1131691540	p.Gln226Ter	stop gained	-	NC_000014.9:g.28767955C>T	-
RCV000493262	p.Gln226Ter	nonsense	-	NC_000014.9:g.28767955C>T	ClinVar
RCV000170086	p.Asn227Lys	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767960C>G	ClinVar
rs786205012	p.Asn227Lys	missense variant	-	NC_000014.9:g.28767960C>G	-
rs1423445999	p.Ser228Pro	missense variant	-	NC_000014.9:g.28767961T>C	gnomAD
rs199502880	p.Ile229Asn	missense variant	-	NC_000014.9:g.28767965T>A	gnomAD
rs1064797186	p.Ile229Leu	missense variant	-	NC_000014.9:g.28767964A>C	-
RCV000503039	p.Ile229Leu	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767964A>C	ClinVar
rs199502880	p.Ile229Thr	missense variant	-	NC_000014.9:g.28767965T>C	gnomAD
RCV000395229	p.Arg230Leu	missense variant	-	NC_000014.9:g.28767968G>T	ClinVar
RCV000170080	p.Arg230His	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767968G>A	ClinVar
rs786205007	p.Arg230Leu	missense variant	-	NC_000014.9:g.28767968G>T	-
rs786205007	p.Arg230His	missense variant	-	NC_000014.9:g.28767968G>A	-
COSM4050370	p.Arg230Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767967C>G	NCI-TCGA Cosmic
rs786205486	p.Asn232Asp	missense variant	-	NC_000014.9:g.28767973A>G	-
rs786205486	p.Asn232Tyr	missense variant	-	NC_000014.9:g.28767973A>T	-
RCV000648315	p.Asn232Asp	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767973A>G	ClinVar
RCV000171221	p.Asn232Tyr	missense variant	-	NC_000014.9:g.28767973A>T	ClinVar
VAR_078717	p.Asn232Ser	Missense	-	-	UniProt
rs786205008	p.Ser234Pro	missense variant	-	NC_000014.9:g.28767979T>C	-
RCV000170081	p.Ser234Pro	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767979T>C	ClinVar
COSM3401280	p.Ser234Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767979T>G	NCI-TCGA Cosmic
RCV000485796	p.Leu235Ter	frameshift	-	NC_000014.9:g.28767982del	ClinVar
RCV000706347	p.Leu235Phe	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767982C>T	ClinVar
RCV000187464	p.Asn236Lys	missense variant	-	NC_000014.9:g.28767987C>A	ClinVar
rs796052468	p.Asn236Lys	missense variant	-	NC_000014.9:g.28767987C>A	-
NCI-TCGA novel	p.Lys237Arg	missense variant	-	NC_000014.9:g.28767989A>G	NCI-TCGA
RCV000504441	p.Cys238Tyr	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767992G>A	ClinVar
rs1555321337	p.Cys238Tyr	missense variant	-	NC_000014.9:g.28767992G>A	-
COSM4050371	p.Cys238Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767991T>A	NCI-TCGA Cosmic
rs1555321339	p.Phe239Leu	missense variant	-	NC_000014.9:g.28767996C>G	-
RCV000622701	p.Phe239Leu	missense variant	Inborn genetic diseases	NC_000014.9:g.28767996C>G	ClinVar
NCI-TCGA novel	p.Phe239Leu	missense variant	-	NC_000014.9:g.28767994T>C	NCI-TCGA
rs1064796823	p.Val240Gly	missense variant	-	NC_000014.9:g.28767998T>G	-
RCV000480860	p.Val240Gly	missense variant	-	NC_000014.9:g.28767998T>G	ClinVar
COSM3690052	p.Val242Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768003G>A	NCI-TCGA Cosmic
rs1454795723	p.Pro243Arg	missense variant	-	NC_000014.9:g.28768007C>G	gnomAD
COSM5078085	p.Pro243Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768006C>T	NCI-TCGA Cosmic
COSM4050372	p.Pro243Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768007C>T	NCI-TCGA Cosmic
rs786205009	p.Arg244Cys	missense variant	-	NC_000014.9:g.28768009C>T	-
RCV000481314	p.Arg244His	missense variant	-	NC_000014.9:g.28768010G>A	ClinVar
RCV000170082	p.Arg244Cys	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28768009C>T	ClinVar
NCI-TCGA novel	p.Arg244Ser	missense variant	-	NC_000014.9:g.28768009C>A	NCI-TCGA
rs796052484	p.Arg244His	missense variant	-	NC_000014.9:g.28768010G>A	-
RCV000623057	p.His245Ter	frameshift	Inborn genetic diseases	NC_000014.9:g.28768011_28768020del	ClinVar
COSM698036	p.His245Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768012C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp248Gly	missense variant	-	NC_000014.9:g.28768022A>G	NCI-TCGA
COSM698035	p.Asp248Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768021G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly250Cys	missense variant	-	NC_000014.9:g.28768027G>T	NCI-TCGA
rs587783640	p.Gly252Val	missense variant	-	NC_000014.9:g.28768034G>T	-
RCV000170083	p.Gly252Val	missense variant	-	NC_000014.9:g.28768034G>T	ClinVar
RCV000145995	p.Asn253Asp	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28768036A>G	ClinVar
rs587783641	p.Asn253Asp	missense variant	-	NC_000014.9:g.28768036A>G	-
rs1085307966	p.Tyr254Cys	missense variant	-	NC_000014.9:g.28768040A>G	-
rs587783642	p.Tyr254Ter	stop gained	-	NC_000014.9:g.28768041C>G	-
RCV000489969	p.Tyr254Cys	missense variant	-	NC_000014.9:g.28768040A>G	ClinVar
RCV000145996	p.Tyr254Ter	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28768041C>G	ClinVar
rs121913678	p.Trp255Cys	missense variant	-	NC_000014.9:g.28768044G>T	-
rs121913678	p.Trp255Ter	stop gained	-	NC_000014.9:g.28768044G>A	-
rs1555321351	p.Trp255Ter	stop gained	-	NC_000014.9:g.28768043G>A	-
RCV000145997	p.Trp255Cys	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28768044G>T	ClinVar
RCV000014881	p.Trp255Ter	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28768044G>A	ClinVar
RCV000760276	p.Trp255Arg	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28768042T>A	ClinVar
RCV000585809	p.Trp255Ter	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28768043G>A	ClinVar
RCV000656311	p.Leu257Pro	missense variant	-	NC_000014.9:g.28768049T>C	ClinVar
rs1555321353	p.Leu257Pro	missense variant	-	NC_000014.9:g.28768049T>C	-
RCV000210671	p.Pro259Arg	missense variant	Inborn genetic diseases	NC_000014.9:g.28768055C>G	ClinVar
rs869312961	p.Pro259Arg	missense variant	-	NC_000014.9:g.28768055C>G	-
RCV000170084	p.Asp263Ter	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28768067_28768071del	ClinVar
NCI-TCGA novel	p.Val264Met	missense variant	-	NC_000014.9:g.28768069G>A	NCI-TCGA
rs886041744	p.Ile266Asn	missense variant	-	NC_000014.9:g.28768076T>A	-
RCV000325789	p.Ile266Asn	missense variant	-	NC_000014.9:g.28768076T>A	ClinVar
rs587783643	p.Gly267Ser	missense variant	-	NC_000014.9:g.28768078G>A	-
NCI-TCGA novel	p.Gly267Asp	missense variant	-	NC_000014.9:g.28768079G>A	NCI-TCGA
RCV000480864	p.Gly267Ser	missense variant	-	NC_000014.9:g.28768078G>A	ClinVar
NCI-TCGA novel	p.Gly268Asp	missense variant	-	NC_000014.9:g.28768082G>A	NCI-TCGA
COSM6140353	p.Gly268Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768081G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr269Ile	missense variant	-	NC_000014.9:g.28768085C>T	NCI-TCGA
COSM3885990	p.Thr269Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768084A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr270Pro	missense variant	-	NC_000014.9:g.28768087A>C	NCI-TCGA
rs1461591340	p.Thr270Ala	missense variant	-	NC_000014.9:g.28768087A>G	gnomAD
rs796052469	p.Gly271Asp	missense variant	-	NC_000014.9:g.28768091G>A	-
RCV000803740	p.Gly271Asp	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28768091G>A	ClinVar
RCV000187466	p.Gly271Asp	missense variant	-	NC_000014.9:g.28768091G>A	ClinVar
rs869312700	p.Arg274Gln	missense variant	-	NC_000014.9:g.28768100G>A	-
RCV000209877	p.Arg274Gln	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28768100G>A	ClinVar
COSM266557	p.Arg274Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768099C>T	NCI-TCGA Cosmic
rs1555321361	p.Arg275Pro	missense variant	-	NC_000014.9:g.28768103G>C	-
RCV000505226	p.Arg275Pro	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28768103G>C	ClinVar
NCI-TCGA novel	p.Arg275His	missense variant	-	NC_000014.9:g.28768103G>A	NCI-TCGA
COSM5342443	p.Arg275Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768102C>T	NCI-TCGA Cosmic
rs1181932231	p.Arg276His	missense variant	-	NC_000014.9:g.28768106G>A	gnomAD
COSM4050374	p.Thr278Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768111A>G	NCI-TCGA Cosmic
COSM6075627	p.Arg281Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768121G>C	NCI-TCGA Cosmic
rs796052470	p.Ala282Ser	missense variant	-	NC_000014.9:g.28768123G>T	gnomAD
NCI-TCGA novel	p.Ala282ProPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.28768121G>-	NCI-TCGA
RCV000187467	p.Ala282Thr	missense variant	-	NC_000014.9:g.28768123G>A	ClinVar
rs796052470	p.Ala282Thr	missense variant	-	NC_000014.9:g.28768123G>A	gnomAD
COSM3690053	p.Ala282Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768124C>T	NCI-TCGA Cosmic
COSM4050375	p.Lys283Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768127A>G	NCI-TCGA Cosmic
rs745418016	p.Phe286Leu	missense variant	-	NC_000014.9:g.28768137C>A	ExAC,gnomAD
RCV000627534	p.Phe286Ter	frameshift	-	NC_000014.9:g.28768134del	ClinVar
RCV000623492	p.Lys287Ter	nonsense	Inborn genetic diseases	NC_000014.9:g.28768138A>T	ClinVar
rs1555321367	p.Lys287Ter	stop gained	-	NC_000014.9:g.28768138A>T	-
NCI-TCGA novel	p.Arg288Cys	missense variant	-	NC_000014.9:g.28768141C>T	NCI-TCGA
rs1309285440	p.Arg288Ser	missense variant	-	NC_000014.9:g.28768141C>A	gnomAD
COSM4920095	p.Arg288His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768142G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly289Asp	missense variant	-	NC_000014.9:g.28768145G>A	NCI-TCGA
NCI-TCGA novel	p.Thr293Ala	missense variant	-	NC_000014.9:g.28768156A>G	NCI-TCGA
rs796052471	p.Ser294Pro	missense variant	-	NC_000014.9:g.28768159T>C	-
RCV000187468	p.Ser294Pro	missense variant	-	NC_000014.9:g.28768159T>C	ClinVar
RCV000416103	p.Gly296Ter	frameshift	-	NC_000014.9:g.28768164dup	ClinVar
NCI-TCGA novel	p.Gly296Val	missense variant	-	NC_000014.9:g.28768166G>T	NCI-TCGA
rs866923607	p.Met300Ile	missense variant	-	NC_000014.9:g.28768179G>A	-
RCV000624756	p.Met300Ile	missense variant	Inborn genetic diseases	NC_000014.9:g.28768179G>A	ClinVar
COSM3782836	p.Arg302His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768184G>A	NCI-TCGA Cosmic
RCV000428532	p.Ala303Thr	missense variant	-	NC_000014.9:g.28768186G>A	ClinVar
rs779697567	p.Ala303Thr	missense variant	-	NC_000014.9:g.28768186G>A	ExAC,TOPMed,gnomAD
rs779697567	p.Ala303Ser	missense variant	-	NC_000014.9:g.28768186G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly304Ser	missense variant	-	NC_000014.9:g.28768189G>A	NCI-TCGA
NCI-TCGA novel	p.Ser305Phe	missense variant	-	NC_000014.9:g.28768193C>T	NCI-TCGA
rs998702635	p.Leu306Phe	missense variant	-	NC_000014.9:g.28768195C>T	TOPMed
rs267606827	p.Trp308Ter	stop gained	-	NC_000014.9:g.28768203G>A	-
RCV000014885	p.Trp308Ter	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28768203G>A	ClinVar
rs1430574065	p.Pro309Ser	missense variant	-	NC_000014.9:g.28768204C>T	gnomAD
NCI-TCGA novel	p.Ser311Thr	missense variant	-	NC_000014.9:g.28768210T>A	NCI-TCGA
rs1427613291	p.Ser315Ala	missense variant	-	NC_000014.9:g.28768222T>G	TOPMed
RCV000648318	p.Leu316Ter	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28768225del	ClinVar
COSM4050377	p.Leu316Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768226T>C	NCI-TCGA Cosmic
rs768320307	p.Pro319Arg	missense variant	-	NC_000014.9:g.28768235C>G	ExAC,gnomAD
RCV000599579	p.Arg320Ter	frameshift	-	NC_000014.9:g.28768237del	ClinVar
rs1462696621	p.Arg320Ser	missense variant	-	NC_000014.9:g.28768237C>A	gnomAD
rs1462696621	p.Arg320Cys	missense variant	-	NC_000014.9:g.28768237C>T	gnomAD
rs1268930064	p.Ala321Thr	missense variant	-	NC_000014.9:g.28768240G>A	gnomAD
RCV000170085	p.Ser323Ter	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28768248del	ClinVar
rs748001255	p.Ser326Thr	missense variant	-	NC_000014.9:g.28768256G>C	ExAC,gnomAD
RCV000490189	p.Ser326Asn	missense variant	-	NC_000014.9:g.28768256G>A	ClinVar
rs748001255	p.Ser326Asn	missense variant	-	NC_000014.9:g.28768256G>A	ExAC,gnomAD
rs1482445491	p.Ser326Gly	missense variant	-	NC_000014.9:g.28768255A>G	gnomAD
NCI-TCGA novel	p.Gly329Ser	missense variant	-	NC_000014.9:g.28768264G>A	NCI-TCGA
rs150277632	p.Thr330Ser	missense variant	-	NC_000014.9:g.28768268C>G	ESP,TOPMed,gnomAD
rs150277632	p.Thr330Asn	missense variant	-	NC_000014.9:g.28768268C>A	ESP,TOPMed,gnomAD
rs759699805	p.Thr331Ala	missense variant	-	NC_000014.9:g.28768270A>G	ExAC,gnomAD
rs775851487	p.Ser332Ala	missense variant	-	NC_000014.9:g.28768273T>G	ExAC,gnomAD
COSM4050379	p.Ser332Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768274C>T	NCI-TCGA Cosmic
rs1322496307	p.Ala333Val	missense variant	-	NC_000014.9:g.28768277C>T	gnomAD
COSM5065408	p.Tyr334Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.28768281C>A	NCI-TCGA Cosmic
rs531378284	p.Pro335Ala	missense variant	-	NC_000014.9:g.28768282C>G	-
COSM6075626	p.His337Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768288C>A	NCI-TCGA Cosmic
rs1252698560	p.Met339Ile	missense variant	-	NC_000014.9:g.28768296G>A	gnomAD
rs1336929504	p.Pro340Ser	missense variant	-	NC_000014.9:g.28768297C>T	gnomAD
COSM6140352	p.Pro340His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768298C>A	NCI-TCGA Cosmic
rs1490993865	p.Ser343Phe	missense variant	-	NC_000014.9:g.28768307C>T	gnomAD
rs372086115	p.Val344Met	missense variant	-	NC_000014.9:g.28768309G>A	ESP,ExAC,gnomAD
COSM3495611	p.Thr346Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768316C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn348His	missense variant	-	NC_000014.9:g.28768321A>C	NCI-TCGA
rs796052472	p.Ser349Ala	missense variant	-	NC_000014.9:g.28768324T>G	TOPMed,gnomAD
RCV000428947	p.Ser349Ala	missense variant	-	NC_000014.9:g.28768324T>G	ClinVar
COSM955144	p.Ser349Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768325C>T	NCI-TCGA Cosmic
rs1371530117	p.Asn352Thr	missense variant	-	NC_000014.9:g.28768334A>C	gnomAD
rs749879411	p.Asn353Ser	missense variant	-	NC_000014.9:g.28768337A>G	ExAC,TOPMed,gnomAD
RCV000478170	p.Asn353Ter	frameshift	-	NC_000014.9:g.28768337dup	ClinVar
NCI-TCGA novel	p.Ser355Ala	missense variant	-	NC_000014.9:g.28768342T>G	NCI-TCGA
RCV000626877	p.Phe356Ter	frameshift	-	NC_000014.9:g.28768346del	ClinVar
NCI-TCGA novel	p.Phe356Leu	missense variant	-	NC_000014.9:g.28768347C>A	NCI-TCGA
NCI-TCGA novel	p.Ala359Thr	missense variant	-	NC_000014.9:g.28768354G>A	NCI-TCGA
COSM552819	p.Asn360Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768359C>A	NCI-TCGA Cosmic
RCV000624871	p.Leu362Ter	frameshift	Inborn genetic diseases	NC_000014.9:g.28768361dup	ClinVar
NCI-TCGA novel	p.Val364Leu	missense variant	-	NC_000014.9:g.28768369G>T	NCI-TCGA
rs754695105	p.Val368Gly	missense variant	-	NC_000014.9:g.28768382T>G	ExAC,gnomAD
COSM955145	p.Glu371Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768392G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile372Phe	missense variant	-	NC_000014.9:g.28768393A>T	NCI-TCGA
COSM4050380	p.Tyr374His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768399T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala375Ser	missense variant	-	NC_000014.9:g.28768402G>T	NCI-TCGA
NCI-TCGA novel	p.Thr376Ala	missense variant	-	NC_000014.9:g.28768405A>G	NCI-TCGA
rs1291647299	p.His378Pro	missense variant	-	NC_000014.9:g.28768412A>C	gnomAD
COSM5369518	p.Ala382Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768424C>T	NCI-TCGA Cosmic
COSM6001128	p.Ala382Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768423G>A	NCI-TCGA Cosmic
rs202157686	p.Ala383Thr	missense variant	-	NC_000014.9:g.28768426G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala383Val	missense variant	-	NC_000014.9:g.28768427C>T	NCI-TCGA
RCV000414221	p.Ser387Ter	frameshift	-	NC_000014.9:g.28768439_28768440delinsGTC	ClinVar
NCI-TCGA novel	p.Ser387Ter	stop gained	-	NC_000014.9:g.28768439C>A	NCI-TCGA
rs369673538	p.Pro389Ser	missense variant	-	NC_000014.9:g.28768444C>T	ESP,TOPMed
rs1471936774	p.Gly391Val	missense variant	-	NC_000014.9:g.28768451G>T	TOPMed
rs1085307753	p.Ser393Trp	missense variant	-	NC_000014.9:g.28768457C>G	-
RCV000489047	p.Ser393Trp	missense variant	-	NC_000014.9:g.28768457C>G	ClinVar
NCI-TCGA novel	p.Ser393Leu	missense variant	-	NC_000014.9:g.28768457C>T	NCI-TCGA
rs1359529468	p.Pro395Leu	missense variant	-	NC_000014.9:g.28768463C>T	gnomAD
VAR_078718	p.Cys396_His489del	inframe_deletion	Rett syndrome congenital variant (RTTCV) [MIM:613454]	-	UniProt
rs1057521783	p.Ser397Phe	missense variant	-	NC_000014.9:g.28768469C>T	-
RCV000439955	p.Ser397Phe	missense variant	-	NC_000014.9:g.28768469C>T	ClinVar
rs1482684269	p.Gly398Ala	missense variant	-	NC_000014.9:g.28768472G>C	TOPMed
rs765839485	p.Thr399Ser	missense variant	-	NC_000014.9:g.28768474A>T	ExAC,gnomAD
rs138747073	p.Tyr400Ter	stop gained	-	NC_000014.9:g.28768479C>A	ESP,ExAC,TOPMed,gnomAD
rs138747073	p.Tyr400Ter	stop gained	-	NC_000014.9:g.28768479C>G	ESP,ExAC,TOPMed,gnomAD
RCV000014886	p.Tyr400Ter	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28768479C>G	ClinVar
RCV000170069	p.Tyr400Ter	nonsense	-	NC_000014.9:g.28768479C>A	ClinVar
NCI-TCGA novel	p.Ser401Thr	missense variant	-	NC_000014.9:g.28768480T>A	NCI-TCGA
COSM3495612	p.Ser401Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768481C>T	NCI-TCGA Cosmic
COSM416219	p.Leu402Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768483C>T	NCI-TCGA Cosmic
rs972290676	p.Asn403Ser	missense variant	-	NC_000014.9:g.28768487A>G	TOPMed
rs1287203413	p.Val407Ile	missense variant	-	NC_000014.9:g.28768498G>A	TOPMed
NCI-TCGA novel	p.Leu410Ile	missense variant	-	NC_000014.9:g.28768507C>A	NCI-TCGA
COSM698031	p.Leu410Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768508T>G	NCI-TCGA Cosmic
COSM1207417	p.Ala411Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768511C>T	NCI-TCGA Cosmic
rs1485738472	p.Ser415Gly	missense variant	-	NC_000014.9:g.28768522A>G	TOPMed,gnomAD
rs1201821930	p.Ser415Asn	missense variant	-	NC_000014.9:g.28768523G>A	gnomAD
rs786204999	p.Tyr416Ter	stop gained	-	NC_000014.9:g.28768527C>G	gnomAD
RCV000170070	p.Tyr416Ter	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28768527C>G	ClinVar
rs755931562	p.Phe417Leu	missense variant	-	NC_000014.9:g.28768528T>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe418SerPheSerTerUnk	frameshift	-	NC_000014.9:g.28768528T>-	NCI-TCGA
rs1555321437	p.Pro419Leu	missense variant	-	NC_000014.9:g.28768535C>T	-
RCV000623586	p.Pro419Leu	missense variant	Inborn genetic diseases	NC_000014.9:g.28768535C>T	ClinVar
NCI-TCGA novel	p.Val421Ile	missense variant	-	NC_000014.9:g.28768540G>A	NCI-TCGA
COSM3495614	p.Pro422Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768543C>T	NCI-TCGA Cosmic
rs1480907486	p.His423Arg	missense variant	-	NC_000014.9:g.28768547A>G	gnomAD
rs780242359	p.Ser425Pro	missense variant	-	NC_000014.9:g.28768552T>C	ExAC,TOPMed,gnomAD
RCV000711707	p.Ser425Pro	missense variant	-	NC_000014.9:g.28768552T>C	ClinVar
RCV000187447	p.Met426Ile	missense variant	-	NC_000014.9:g.28768557G>A	ClinVar
rs1161131663	p.Met426Val	missense variant	-	NC_000014.9:g.28768555A>G	gnomAD
rs747138265	p.Met426Ile	missense variant	-	NC_000014.9:g.28768557G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met426Thr	missense variant	-	NC_000014.9:g.28768556T>C	NCI-TCGA
COSM6075625	p.Met426Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768557G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser428Leu	missense variant	-	NC_000014.9:g.28768562C>T	NCI-TCGA
NCI-TCGA novel	p.Ser430AlaPheSerTerUnk	frameshift	-	NC_000014.9:g.28768566G>-	NCI-TCGA
rs1337035001	p.Ser430Gly	missense variant	-	NC_000014.9:g.28768567A>G	gnomAD
NCI-TCGA novel	p.Ser431AlaPheSerTerUnk	frameshift	-	NC_000014.9:g.28768570A>-	NCI-TCGA
rs1040115321	p.Thr432Met	missense variant	-	NC_000014.9:g.28768574C>T	TOPMed
COSM955147	p.Thr432SerPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.28768574C>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met434Leu	missense variant	-	NC_000014.9:g.28768579A>C	NCI-TCGA
rs1449961023	p.Met434Val	missense variant	-	NC_000014.9:g.28768579A>G	gnomAD
rs1301757713	p.Ala436Thr	missense variant	-	NC_000014.9:g.28768585G>A	gnomAD
COSM6140349	p.Arg437Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768590G>T	NCI-TCGA Cosmic
rs376242569	p.Ala438Val	missense variant	-	NC_000014.9:g.28768592C>T	ESP,ExAC,TOPMed,gnomAD
RCV000602401	p.Ala438Val	missense variant	-	NC_000014.9:g.28768592C>T	ClinVar
rs770118439	p.Ala439Val	missense variant	-	NC_000014.9:g.28768595C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser444Ter	stop gained	-	NC_000014.9:g.28768610C>A	NCI-TCGA
NCI-TCGA novel	p.Ser444Leu	missense variant	-	NC_000014.9:g.28768610C>T	NCI-TCGA
NCI-TCGA novel	p.Pro445Thr	missense variant	-	NC_000014.9:g.28768612C>A	NCI-TCGA
COSM955148	p.Pro445Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768612C>T	NCI-TCGA Cosmic
rs1233541390	p.Gln446Leu	missense variant	-	NC_000014.9:g.28768616A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gln446Lys	missense variant	-	NC_000014.9:g.28768615C>A	NCI-TCGA
NCI-TCGA novel	p.Ala447Pro	missense variant	-	NC_000014.9:g.28768618G>C	NCI-TCGA
NCI-TCGA novel	p.Ser449Leu	missense variant	-	NC_000014.9:g.28768625C>T	NCI-TCGA
NCI-TCGA novel	p.Leu451Gln	missense variant	-	NC_000014.9:g.28768631T>A	NCI-TCGA
NCI-TCGA novel	p.Pro452Leu	missense variant	-	NC_000014.9:g.28768634C>T	NCI-TCGA
rs1483410570	p.Pro452Ala	missense variant	-	NC_000014.9:g.28768633C>G	TOPMed
NCI-TCGA novel	p.Glu454Gln	missense variant	-	NC_000014.9:g.28768639G>C	NCI-TCGA
NCI-TCGA novel	p.Ser455Phe	missense variant	-	NC_000014.9:g.28768643C>T	NCI-TCGA
COSM260985	p.Arg457Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768649G>T	NCI-TCGA Cosmic
rs767003141	p.Pro458Arg	missense variant	-	NC_000014.9:g.28768652C>G	ExAC,gnomAD
rs796052473	p.Ser459Ala	missense variant	-	NC_000014.9:g.28768654T>G	-
RCV000187472	p.Ser459Ala	missense variant	-	NC_000014.9:g.28768654T>G	ClinVar
RCV000702369	p.Ser459Cys	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28768655C>G	ClinVar
NCI-TCGA novel	p.Ser459Tyr	missense variant	-	NC_000014.9:g.28768655C>A	NCI-TCGA
RCV000194286	p.Ser462Gly	missense variant	-	NC_000014.9:g.28768663A>G	ClinVar
NCI-TCGA novel	p.Ser462Arg	missense variant	-	NC_000014.9:g.28768663A>C	NCI-TCGA
rs752379833	p.Ser462Gly	missense variant	-	NC_000014.9:g.28768663A>G	ExAC,TOPMed,gnomAD
rs1268719113	p.Thr464Ala	missense variant	-	NC_000014.9:g.28768669A>G	TOPMed
rs1431069138	p.Thr464Met	missense variant	-	NC_000014.9:g.28768670C>T	gnomAD
COSM955149	p.Thr465Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768673C>T	NCI-TCGA Cosmic
RCV000679987	p.Gly466Glu	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28768676G>A	ClinVar
rs779009924	p.Leu467Pro	missense variant	-	NC_000014.9:g.28768679T>C	ExAC,gnomAD
RCV000187489	p.Ser468Ter	frameshift	-	NC_000014.9:g.28768681_28768684del	ClinVar
COSM698030	p.Gly469Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768684G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly470AspPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.28768684G>-	NCI-TCGA
NCI-TCGA novel	p.Leu471ThrPheSerTerUnk	frameshift	-	NC_000014.9:g.28768683_28768684insG	NCI-TCGA
rs781189964	p.Ser472Pro	missense variant	-	NC_000014.9:g.28768693T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp473Glu	missense variant	-	NC_000014.9:g.28768698T>G	NCI-TCGA
NCI-TCGA novel	p.Asp473Tyr	missense variant	-	NC_000014.9:g.28768696G>T	NCI-TCGA
NCI-TCGA novel	p.Tyr474His	missense variant	-	NC_000014.9:g.28768699T>C	NCI-TCGA
NCI-TCGA novel	p.His477Tyr	missense variant	-	NC_000014.9:g.28768708C>T	NCI-TCGA
NCI-TCGA novel	p.Gln478Glu	missense variant	-	NC_000014.9:g.28768711C>G	NCI-TCGA
RCV000187473	p.Gln480Arg	missense variant	-	NC_000014.9:g.28768718A>G	ClinVar
rs148410675	p.Gln480Arg	missense variant	-	NC_000014.9:g.28768718A>G	ESP,ExAC,gnomAD
rs1273933625	p.Ser483Phe	missense variant	-	NC_000014.9:g.28768727C>T	gnomAD
COSM3495616	p.Ser484Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768730C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn485Ile	missense variant	-	NC_000014.9:g.28768733A>T	NCI-TCGA
rs1383814555	p.Pro486Ser	missense variant	-	NC_000014.9:g.28768735C>T	TOPMed
NCI-TCGA novel	p.Ile488Val	missense variant	-	NC_000014.9:g.28768741A>G	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0003635	Apraxias	group	HPO
C0004158	Athetosis	phenotype	HPO
C0004352	Autistic Disorder	group	BEFREE
C0005744	Blepharophimosis	disease	HPO
C0006111	Brain Diseases	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006325	Bruxism	phenotype	HPO
C0008073	Developmental Disabilities	group	BEFREE
C0008489	Chorea	phenotype	BEFREE;HPO
C0009081	Congenital clubfoot	disease	HPO
C0009806	Constipation	phenotype	HPO
C0011053	Deafness	phenotype	HPO
C0013132	Drooling	phenotype	HPO
C0013384	Dyskinetic syndrome	disease	BEFREE;HPO
C0013421	Dystonia	phenotype	HPO
C0014544	Epilepsy	disease	BEFREE;HPO
C0014547	Epilepsies, Partial	disease	BEFREE
C0016202	Flatfoot	phenotype	HPO
C0017168	Gastroesophageal reflux disease	disease	HPO
C0017636	Glioblastoma	disease	BEFREE
C0018772	Hearing Loss, Partial	phenotype	HPO
C0018834	Heartburn	phenotype	HPO
C0020796	Profound Mental Retardation	disease	CTD_human
C0021294	Infant, Premature	phenotype	BEFREE
C0022333	Jacksonian Seizure	disease	CTD_human
C0022821	Kyphosis deformity of spine	phenotype	HPO
C0024421	Macroglossia	disease	HPO
C0024433	Macrostomia	disease	HPO
C0025149	Medulloblastoma	disease	BEFREE;LHGDN
C0025362	Mental Retardation	disease	BEFREE;HPO
C0025363	Mental Retardation, Psychosocial	disease	CTD_human
C0025958	Microcephaly	disease	BEFREE;CTD_human;GENOMICS_ENGLAND
C0026650	Movement Disorders	group	BEFREE;HPO
C0026827	Muscle hypotonia	phenotype	HPO
C0026838	Muscle Spasticity	phenotype	HPO
C0027765	nervous system disorder	group	CTD_human
C0029925	Ovarian Carcinoma	disease	BEFREE
C0035372	Rett Syndrome	disease	BEFREE;LHGDN;MGD
C0036572	Seizures	phenotype	BEFREE;CTD_human;HPO
C0036857	Severe mental retardation (I.Q. 20-34)	disease	BEFREE;HPO
C0037036	Sialorrhea	disease	HPO
C0037769	West Syndrome	disease	BEFREE
C0037822	Speech Disorders	group	BEFREE
C0037930	Spinal Cord Neoplasms	group	BEFREE
C0037932	Curvature of spine	phenotype	HPO
C0037939	Spinal Neoplasms	group	BEFREE
C0038271	Stereotyped Behavior	phenotype	HPO
C0038273	Stereotypic Movement Disorder	phenotype	HPO
C0079541	Holoprosencephaly	disease	BEFREE
C0085584	Encephalopathies	group	BEFREE
C0149958	Complex partial seizures	disease	CTD_human
C0151611	Electroencephalogram abnormal	phenotype	HPO
C0151686	Growth retardation	phenotype	HPO
C0162285	Edema of eyelid	phenotype	HPO
C0162678	Neurofibromatoses	group	BEFREE
C0175754	Agenesis of corpus callosum	disease	BEFREE;HPO
C0206624	Hepatoblastoma	disease	BEFREE
C0232466	Feeding difficulties	phenotype	HPO
C0234533	Generalized seizures	disease	CTD_human
C0234535	Seizures, Clonic	disease	CTD_human
C0235946	Cerebral atrophy	disease	HPO
C0237326	Dyschezia	phenotype	HPO
C0238111	Lennox-Gastaut syndrome	disease	BEFREE
C0240543	Bulbous nose	phenotype	HPO
C0264133	Acquired flat foot	phenotype	HPO
C0266483	Pachygyria	disease	HPO
C0270824	Visual seizure	disease	CTD_human
C0270844	Tonic Seizures	phenotype	CTD_human
C0270846	Epileptic drop attack	disease	CTD_human
C0278878	Adult Glioblastoma	disease	BEFREE
C0280474	Childhood Glioblastoma	disease	BEFREE
C0302501	Mandibular hyperplasia	phenotype	HPO
C0338656	Impaired cognition	disease	BEFREE
C0339789	Congenital deafness	disease	HPO
C0344482	Hypoplasia of corpus callosum	disease	BEFREE;HPO
C0392525	Nephrolithiasis	disease	HPO
C0399526	Class III malocclusion	disease	HPO
C0409348	Flexion contracture of proximal interphalangeal joint	phenotype	HPO
C0422850	Seizures, Somatosensory	phenotype	CTD_human
C0422852	Seizures, Auditory	phenotype	CTD_human
C0422853	Olfactory seizure	disease	CTD_human
C0422854	Gustatory seizure	phenotype	CTD_human
C0422855	Vertiginous seizure	disease	CTD_human
C0423110	Downward slant of palpebral fissure	phenotype	HPO
C0423867	Fine hair	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0424605	Developmental delay (disorder)	disease	BEFREE
C0424688	Small head	phenotype	HPO
C0426414	Small nose	phenotype	HPO
C0426421	Wide nose	phenotype	HPO
C0456070	Growth delay	phenotype	HPO
C0494475	Tonic - clonic seizures	disease	CTD_human
C0543888	Epileptic encephalopathy	disease	GENOMICS_ENGLAND
C0557874	Global developmental delay	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0678230	Congenital Epicanthus	disease	HPO
C0700208	Acquired scoliosis	phenotype	HPO
C0746940	Nonverbal	phenotype	HPO
C0751056	Non-epileptic convulsion	phenotype	CTD_human
C0751110	Single Seizure	disease	CTD_human
C0751123	Atonic Absence Seizures	disease	CTD_human
C0751494	Convulsive Seizures	phenotype	CTD_human
C0751495	Seizures, Focal	phenotype	CTD_human
C0751496	Seizures, Sensory	phenotype	CTD_human
C0796147	Acrocallosal Syndrome	disease	CTD_human
C0878787	Growth failure	phenotype	HPO
C0917816	Mental deficiency	disease	CTD_human;HPO
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1142533	Smooth philtrum	phenotype	HPO
C1277241	Delayed myelination	phenotype	HPO
C1305420	Prominent ear	phenotype	HPO
C1384666	hearing impairment	phenotype	HPO
C1445953	Poor eye contact	phenotype	HPO
C1510586	Autism Spectrum Disorders	disease	BEFREE
C1535926	Neurodevelopmental Disorders	group	BEFREE
C1621958	Glioblastoma Multiforme	disease	BEFREE
C1829460	Tongue thrusting	phenotype	HPO
C1834055	Underdeveloped nasal alae	phenotype	HPO
C1834118	Potato nose	phenotype	HPO
C1836542	Depressed nasal bridge	phenotype	HPO
C1836543	Thick vermilion border	phenotype	HPO
C1836550	Loss of developmental milestones	phenotype	HPO
C1836830	Developmental regression	disease	HPO
C1837385	Poor growth	phenotype	HPO
C1839767	Tented upper lip vermilion	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1845112	Hyperkyphosis	phenotype	HPO
C1850049	Clinodactyly of the 5th finger	disease	HPO
C1850072	Tented upper lip	phenotype	HPO
C1850456	Progressive microcephaly	phenotype	HPO
C1850493	Psychomotor regression, progressive	phenotype	HPO
C1853246	Everted lower lip vermilion	phenotype	HPO
C1853383	Tented mouth	phenotype	HPO
C1854114	Short nose	phenotype	HPO
C1854301	Motor delay	phenotype	HPO
C1854882	Absent speech	phenotype	HPO
C1855009	Psychomotor regression in infants	phenotype	HPO
C1855019	Psychomotor regression	phenotype	HPO
C1855285	Protruding ear	phenotype	HPO
C1855751	Bulbous nasal tip	phenotype	HPO
C1855996	Psychomotor regression beginning in infancy	phenotype	HPO
C1857121	Neurodevelopmental regression	phenotype	HPO
C1857949	Prominent metopic ridge	phenotype	HPO
C1859678	Mental deterioration in childhood	phenotype	HPO
C1865014	Long philtrum	phenotype	HPO
C1866234	Protruding lower lip	phenotype	HPO
C1955869	Malformations of Cortical Development	group	BEFREE
C1956147	Microlissencephaly	disease	CTD_human
C2227134	mandibular excess (physical finding)	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE
C2267233	Neonatal Hypotonia	disease	HPO
C2748910	Rett Syndrome, Atypical	disease	BEFREE;ORPHANET
C2749675	Cortical gyral simplification	phenotype	HPO
C3150705	FOXG1 syndrome	disease	BEFREE;CLINVAR;CTD_human;UNIPROT
C3278923	Dilated ventricles (finding)	phenotype	HPO
C3279222	Aplasia/Hypoplasia of the cerebellum	phenotype	HPO
C3495874	Nonepileptic Seizures	disease	CTD_human
C3550546	Depressed nasal root/bridge	phenotype	HPO
C3552463	Very poor growth	phenotype	HPO
C3714756	Intellectual Disability	group	BEFREE;CTD_human;GENOMICS_ENGLAND;HPO
C3853041	Severe Congenital Microcephaly	disease	CTD_human
C3887662	Intraspinal Neoplasm	disease	BEFREE
C3887898	Infantile Spasm	disease	BEFREE
C4020858	Choreatic disease	disease	HPO
C4020871	Dystonic disease	disease	HPO
C4020874	No development of motor milestones	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4021395	Abnormality of the antihelix	phenotype	HPO
C4021782	Abnormality of the fingernails	phenotype	HPO
C4021785	Abnormality of the metacarpal bones	phenotype	HPO
C4024167	Abnormality of the antitragus	phenotype	HPO
C4048158	Convulsions	phenotype	CTD_human
C4280495	Concave bridge of nose	phenotype	HPO
C4280538	Curvature of little finger	phenotype	HPO
C4280644	Increased size of the mandible	phenotype	HPO
C4280645	Hypertrophy of lower jaw	phenotype	HPO
C4305240	14q12 microdeletion syndrome	disease	ORPHANET
C4316903	Absence Seizures	phenotype	CTD_human
C4317109	Epileptic Seizures	disease	CTD_human
C4317123	Myoclonic Seizures	phenotype	CTD_human
C4317146	Acid reflux	phenotype	HPO
C4505436	Generalized Absence Seizures	disease	CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0003677	DNA binding	TAS
GO:0005515	protein binding	IPI
GO:0043565	sequence-specific DNA binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA
GO:0002052	positive regulation of neuroblast proliferation	IEA
GO:0007346	regulation of mitotic cell cycle	IEA
GO:0007420	brain development	TAS
GO:0007568	aging	IEA
GO:0009953	dorsal/ventral pattern formation	IEA
GO:0016199	axon midline choice point recognition	IEA
GO:0021852	pyramidal neuron migration	IEA
GO:0042472	inner ear morphogenesis	IEA
GO:0045665	negative regulation of neuron differentiation	IEA
GO:0045666	positive regulation of neuron differentiation	IEA
GO:0045787	positive regulation of cell cycle	IEA
GO:0045892	negative regulation of transcription, DNA-templated	IDA
GO:0048664	neuron fate determination	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005654	nucleoplasm	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-212436	Generic Transcription Pathway	IEA
R-HSA-73857	RNA Polymerase II Transcription	TAS
R-HSA-73857	RNA Polymerase II Transcription	IEA
R-HSA-74160	Gene expression (Transcription)	TAS
R-HSA-74160	Gene expression (Transcription)	IEA
R-HSA-8986944	Transcriptional Regulation by MECP2	IEA
R-HSA-9022692	Regulation of MECP2 expression and activity	IEA
R-HSA-9614085	FOXO-mediated transcription	TAS
R-HSA-9617828	FOXO-mediated transcription of cell cycle genes	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C553294	1-(4-(4-propionylpiperazin-1-yl)-3-(trifluoromethyl)phenyl)-9-(quinolin-3-yl)benzo(h)(1,6)naphthyridin-2(1H)-one	1-(4-(4-propionylpiperazin-1-yl)-3-(trifluoromethyl)phenyl)-9-(quinolin-3-yl)benzo(h)(1,6)naphthyridin-2(1H)-one inhibits the reaction [EGFR protein mutant form results in increased expression of FOXG1 mRNA]	26455392
C553294	1-(4-(4-propionylpiperazin-1-yl)-3-(trifluoromethyl)phenyl)-9-(quinolin-3-yl)benzo(h)(1,6)naphthyridin-2(1H)-one	1-(4-(4-propionylpiperazin-1-yl)-3-(trifluoromethyl)phenyl)-9-(quinolin-3-yl)benzo(h)(1,6)naphthyridin-2(1H)-one inhibits the reaction [EGFR protein mutant form results in increased expression of FOXG1 protein]	26455392
C085911	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one results in decreased expression of FOXG1 protein	29129800
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FOXG1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FOXG1 mRNA	27188386
D000079	Acetaldehyde	Acetaldehyde affects the expression of FOXG1 mRNA	22634333
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of FOXG1 gene	27153756
D001280	Atrazine	Atrazine results in increased expression of FOXG1 mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the reaction [AHR protein binds to FOXG1 promoter]	19654925
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of FOXG1 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of FOXG1 promoter	27334623
C006780	bisphenol A	bisphenol A results in increased expression of FOXG1 mRNA	30951980
C000611646	bisphenol F	bisphenol F results in increased expression of FOXG1 mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in increased expression of FOXG1 mRNA	26079696
D004390	Chlorpyrifos	Chlorpyrifos results in decreased expression of FOXG1 mRNA	28112198
D003471	Cuprizone	Cuprizone results in decreased expression of FOXG1 mRNA	26577399
C093628	cyproconazole	cyproconazole results in increased expression of FOXG1 mRNA	22045034
D003907	Dexamethasone	Dexamethasone results in decreased expression of FOXG1 mRNA	20032058
D003907	Dexamethasone	Testosterone inhibits the reaction [Dexamethasone results in decreased expression of FOXG1 mRNA]	20032058
D003913	Dextroamphetamine	Dextroamphetamine results in increased expression of FOXG1 mRNA	12558987
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of FOXG1 mRNA	31163220
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of FOXG1 mRNA	29581250
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FOXG1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FOXG1 mRNA	27188386
C118739	entinostat	entinostat results in decreased expression of FOXG1 mRNA	26272509
D004791	Enzyme Inhibitors	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of FOXG1 protein	23301498
D000069347	Erlotinib Hydrochloride	Erlotinib Hydrochloride inhibits the reaction [EGFR protein mutant form results in increased expression of FOXG1 mRNA]	26455392
D000069347	Erlotinib Hydrochloride	Erlotinib Hydrochloride inhibits the reaction [EGFR protein mutant form results in increased expression of FOXG1 protein]	26455392
D000069347	Erlotinib Hydrochloride	Erlotinib Hydrochloride results in decreased expression of FOXG1 protein	26455392
D000431	Ethanol	Ethanol affects the expression of and affects the splicing of FOXG1 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of FOXG1 mRNA	23129252
D005419	Flavonoids	Flavonoids results in increased expression of FOXG1 mRNA	18035473
D005472	Fluorouracil	Fluorouracil results in decreased expression of FOXG1 mRNA	30518710
C061365	flusilazole	flusilazole affects the expression of FOXG1 mRNA	22634333
C409722	hexaconazole	hexaconazole results in increased expression of FOXG1 mRNA	22045034
C561695	(+)-JQ1 compound	[PD 0325901 co-treated with (+)-JQ1 compound] results in decreased expression of FOXG1 mRNA	25119042
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of FOXG1 mRNA	10975854
D008727	Methotrexate	Methotrexate results in decreased expression of FOXG1 mRNA	23836430
D008767	Methylmercury Compounds	Methylmercury Compounds results in decreased expression of FOXG1 mRNA	22723015
D009151	Mustard Gas	Mustard Gas results in increased expression of FOXG1 mRNA	15674843
C042670	N-vinyl-2-pyrrolidinone	[N-vinyl-2-pyrrolidinone binds to N-vinyl-2-pyrrolidinone] which results in increased expression of FOXG1 mRNA	22037397
C009618	O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate	PON1 gene mutant form affects the susceptibility to [O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate affects the expression of FOXG1 mRNA]	21673326
C506614	PD 0325901	[PD 0325901 co-treated with (+)-JQ1 compound] results in decreased expression of FOXG1 mRNA	25119042
C506614	PD 0325901	PD 0325901 results in decreased expression of FOXG1 mRNA	25119042
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FOXG1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of FOXG1 mRNA	26272509
D010936	Plant Extracts	Plant Extracts results in decreased expression of FOXG1 mRNA	23557933
D020959	Polyethylene	Polyethylene results in decreased expression of FOXG1 mRNA	23203475
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of FOXG1 mRNA	22714537
C009166	retinol acetate	retinol acetate results in increased expression of FOXG1 mRNA	16772331
C025759	saikosaponin	saikosaponin results in decreased expression of FOXG1 protein	29129800
D013739	Testosterone	Testosterone inhibits the reaction [Dexamethasone results in decreased expression of FOXG1 mRNA]	20032058
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to FOXG1 promoter]	19654925
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of FOXG1 mRNA	19933214
C009495	titanium dioxide	titanium dioxide results in increased expression of FOXG1 mRNA	23557971
D014212	Tretinoin	Tretinoin results in decreased expression of FOXG1 mRNA	21934132
C012589	trichostatin A	trichostatin A affects the expression of FOXG1 mRNA	22723015
C012589	trichostatin A	trichostatin A results in decreased expression of FOXG1 mRNA	26272509
C012589	trichostatin A	trichostatin A results in increased expression of FOXG1 mRNA	24935251
C113580	U 0126	U 0126 inhibits the reaction [EGFR protein mutant form results in increased expression of FOXG1 mRNA]	26455392
C113580	U 0126	U 0126 inhibits the reaction [EGFR protein mutant form results in increased expression of FOXG1 protein]	26455392
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FOXG1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of FOXG1 mRNA	23179753; 26272509;
D014635	Valproic Acid	Valproic Acid results in increased expression of FOXG1 mRNA	24383497; 24935251; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased methylation of FOXG1 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of FOXG1 mRNA	22045034
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of FOXG1 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0991	Mental retardation
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR001766	Fork_head_dom
IPR018122	TF_fork_head_CS_1
IPR030456	TF_fork_head_CS_2
IPR036388	WH-like_DNA-bd_sf
IPR036390	WH_DNA-bd_sf

PROSITE

PROSITE ID	PROSITE Term
PS00657	FORK_HEAD_1
PS00658	FORK_HEAD_2
PS50039	FORK_HEAD_3

Pfam

Pfam ID	Pfam Term
PF00250	Forkhead

Gene: FOXG1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction