CleftGeneDB-Search

Gene: FOXP2

Basic information

Tag	Content
Uniprot ID	O15409; A0AUV6; A4D0U8; A6NNW4; B4DLD9; Q6ZND1; Q75MJ3; Q8IZE0; Q8N0W2; Q8N6B7; Q8N6B8; Q8NFQ1; Q8NFQ2; Q8NFQ3; Q8NFQ4; Q8TD74;
Entrez ID	93986
Genbank protein ID	BAD18444.1; AAN03403.1; EAW83484.1; AAN60016.1; AAN03395.1; AAN03405.1; AAL10762.1; AAB91439.1; AAM60767.1; AAM60762.1; AAI43867.1; AAN03406.1; EAW83486.1; AAM60763.1; AAN03402.1; AAN03396.1; AAN03399.1; AAN03390.1; EAL24367.1; AAN03401.1; AAS07399.1; AAN03404.1; AAM60765.1; AAN03391.1; AAI26105.1; AAM13672.1; AAN03398.1; AAS07502.1; AAN03394.1; AAM60764.1; AAN03392.1; AAN03408.1; EAL24369.1; AAM60766.1; AAN03393.1; BAG59501.1; AAN03397.1; AAN03400.1; AAN03389.1; AAN03407.1;
Genbank nucleotide ID	XM_017012801.1; NM_148900.3; NM_014491.3; NM_001172767.2; NM_148899.3; NM_148898.3; NM_001172766.2;
Ensembl protein ID	ENSP00000377132; ENSP00000265436; ENSP00000405470; ENSP00000385069; ENSP00000386200; ENSP00000416825; ENSP00000489457; ENSP00000367482; ENSP00000353367; ENSP00000377129;
Ensembl nucleotide ID	ENSG00000128573
Gene name	Forkhead box protein P2
Gene symbol	FOXP2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26868259
Functional description	Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium. May also play a role in developing neural, gastrointestinal and cardiovascular tissues. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Plays a role in synapse formation by regulating SRPX2 levels. Involved in neural mechanisms mediating the development of speech and language.
Sequence	MMQESATETI SNSSMNQNGM STLSSQLDAG SRDGRSSGDT SSEVSTVELL HLQQQQALQA 60 ARQLLLQQQT SGLKSPKSSD KQRPLQVPVS VAMMTPQVIT PQQMQQILQQ QVLSPQQLQA 120 LLQQQQAVML QQQQLQEFYK KQQEQLHLQL LQQQQQQQQQ QQQQQQQQQQ QQQQQQQQQQ 180 QQQQQQQQQQ QHPGKQAKEQ QQQQQQQQQL AAQQLVFQQQ LLQMQQLQQQ QHLLSLQRQG 240 LISIPPGQAA LPVQSLPQAG LSPAEIQQLW KEVTGVHSME DNGIKHGGLD LTTNNSSSTT 300 SSNTSKASPP ITHHSIVNGQ SSVLSARRDS SSHEETGASH TLYGHGVCKW PGCESICEDF 360 GQFLKHLNNE HALDDRSTAQ CRVQMQVVQQ LEIQLSKERE RLQAMMTHLH MRPSEPKPSP 420 KPLNLVSSVT MSKNMLETSP QSLPQTPTTP TAPVTPITQG PSVITPASVP NVGAIRRRHS 480 DKYNIPMSSE IAPNYEFYKN ADVRPPFTYA TLIRQAIMES SDRQLTLNEI YSWFTRTFAY 540 FRRNAATWKN AVRHNLSLHK CFVRVENVKG AVWTVDEVEY QKRRSQKITG SPTLVKNIPT 600 SLGYGAALNA SLQAALAESS LPLLSNPGLI NNASSGLLQA VHEDLNGSLD HIDSNGNSSP 660 GCSPQPHIHS IHVKEEPVIA EDEDCPMSLV TTANHSPELE DDREIEEEPL SEDLE 715

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

PDB ID
2A07
2AS5
2A07

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Developmental stage	Species	Evidence	Details
1:1 ortholog	FOXP2		A0A452FUL3		Capra hircus	Prediction	More>>
1:1 ortholog	FOXP2	93986	O15409		Homo sapiens	Publication	More>>
1:1 ortholog	Foxp2	114142	P58463	E14.5	Mus musculus	Prediction	More>>
1:1 ortholog	FOXP2	449627	Q8MJA0		Pan troglodytes	Prediction	More>>
1:1 ortholog	FOXP2		A0A5G2QN29		Sus scrofa	Prediction	More>>
1:1 ortholog	Foxp2	500037	P0CF24		Rattus norvegicus	Prediction	More>>
1:1 ortholog	foxp2		H0WFE7		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
NCI-TCGA novel	p.Met2Ile	missense variant	-	NC_000007.14:g.114426517G>C	NCI-TCGA
rs764109995	p.Ala6Val	missense variant	-	NC_000007.14:g.114426528C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala6Gly	missense variant	-	NC_000007.14:g.114426528C>G	NCI-TCGA
rs757351650	p.Thr7Pro	missense variant	-	NC_000007.14:g.114426530A>C	ExAC,gnomAD
rs377372067	p.Thr7Ile	missense variant	-	NC_000007.14:g.114426531C>T	ESP,ExAC,TOPMed,gnomAD
rs1476956484	p.Thr9Ala	missense variant	-	NC_000007.14:g.114426536A>G	TOPMed,gnomAD
rs1273852421	p.Asn12Ser	missense variant	-	NC_000007.14:g.114426546A>G	TOPMed
rs756555227	p.Ser13Asn	missense variant	-	NC_000007.14:g.114426549G>A	ExAC,gnomAD
rs750736305	p.Ser13Gly	missense variant	-	NC_000007.14:g.114426548A>G	ExAC,TOPMed,gnomAD
rs770093841	p.Met15Val	missense variant	-	NC_000007.14:g.114426554A>G	ExAC,gnomAD
rs1386656928	p.Met15Ile	missense variant	-	NC_000007.14:g.114426556G>A	gnomAD
rs201649896	p.Gln17Leu	missense variant	-	NC_000007.14:g.114426561A>T	ESP,ExAC,TOPMed,gnomAD
RCV000234933	p.Gln17Leu	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114426561A>T	ClinVar
rs763263115	p.Asn18Asp	missense variant	-	NC_000007.14:g.114426563A>G	ExAC,TOPMed,gnomAD
RCV000319526	p.Asn18Asp	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114426563A>G	ClinVar
rs777361904	p.Met20Val	missense variant	-	NC_000007.14:g.114426569A>G	ExAC,gnomAD
rs746524111	p.Ser21Asn	missense variant	-	NC_000007.14:g.114426573G>A	ExAC,TOPMed,gnomAD
rs745618497	p.Leu23Arg	missense variant	-	NC_000007.14:g.114426579T>G	ExAC,gnomAD
rs181670107	p.Ser24Gly	missense variant	-	NC_000007.14:g.114426581A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1169006435	p.Leu27Ile	missense variant	-	NC_000007.14:g.114426590T>A	TOPMed
rs762817913	p.Asp28Ala	missense variant	-	NC_000007.14:g.114426594A>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp28Gly	missense variant	-	NC_000007.14:g.114426594A>G	NCI-TCGA
COSM1488143	p.Ala29Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114426597C>A	NCI-TCGA Cosmic
COSM1084233	p.Ala29Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114426597C>T	NCI-TCGA Cosmic
rs774408585	p.Ser31Gly	missense variant	-	NC_000007.14:g.114426602A>G	ExAC,gnomAD
rs762007110	p.Ser31Asn	missense variant	-	NC_000007.14:g.114426603G>A	ExAC,gnomAD
COSM1084235	p.Asp33Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114426608G>A	NCI-TCGA Cosmic
rs750701057	p.Ser36Pro	missense variant	-	NC_000007.14:g.114426617T>C	ExAC,TOPMed,gnomAD
rs1164029715	p.Ser37Asn	missense variant	-	NC_000007.14:g.114426621G>A	gnomAD
NCI-TCGA novel	p.Ser37Ile	missense variant	-	NC_000007.14:g.114426621G>T	NCI-TCGA
rs760842249	p.Gly38Asp	missense variant	-	NC_000007.14:g.114426624G>A	ExAC,gnomAD
rs760842249	p.Gly38Asp	missense variant	-	NC_000007.14:g.114426624G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1423083583	p.Asp39Tyr	missense variant	-	NC_000007.14:g.114426626G>T	gnomAD
rs185960561	p.Thr40Ile	missense variant	-	NC_000007.14:g.114426630C>T	1000Genomes,gnomAD
rs766803095	p.Ser41Gly	missense variant	-	NC_000007.14:g.114426632A>G	ExAC,gnomAD
COSM1084237	p.Ser41Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114426633G>A	NCI-TCGA Cosmic
rs754271344	p.Ser42Cys	missense variant	-	NC_000007.14:g.114426636C>G	ExAC,gnomAD
rs942638508	p.Ser42Pro	missense variant	-	NC_000007.14:g.114426635T>C	gnomAD
rs1244944146	p.Glu43Lys	missense variant	-	NC_000007.14:g.114426638G>A	gnomAD
rs1283187808	p.Val44Gly	missense variant	-	NC_000007.14:g.114426642T>G	gnomAD
rs377588856	p.Ser45Thr	missense variant	-	NC_000007.14:g.114426645G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr46IlePheSerTerUnkUnk	frameshift	-	NC_000007.14:g.114426645_114426660GCACAGTAGAACTGCT>-	NCI-TCGA
rs1254975807	p.Val47Ala	missense variant	-	NC_000007.14:g.114426651T>C	TOPMed
rs1202904573	p.Glu48Gly	missense variant	-	NC_000007.14:g.114426654A>G	gnomAD
rs779632352	p.Glu48Lys	missense variant	-	NC_000007.14:g.114426653G>A	ExAC,gnomAD
COSM1084239	p.Glu48Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.114426653G>T	NCI-TCGA Cosmic
rs748073993	p.Ala57Thr	missense variant	-	NC_000007.14:g.114534617G>A	ExAC,TOPMed,gnomAD
COSM3877388	p.Leu58Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114534621T>G	NCI-TCGA Cosmic
COSM1447403	p.Gln59His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114534625G>T	NCI-TCGA Cosmic
rs1452181228	p.Ala61Ser	missense variant	-	NC_000007.14:g.114534629G>T	gnomAD
rs1452181228	p.Ala61Thr	missense variant	-	NC_000007.14:g.114534629G>A	gnomAD
rs1357512652	p.Gln63His	missense variant	-	NC_000007.14:g.114534637A>T	TOPMed,gnomAD
rs777042566	p.Leu65Ile	missense variant	-	NC_000007.14:g.114534641C>A	ExAC,TOPMed,gnomAD
rs1554412300	p.Leu66Ter	stop gained	-	NC_000007.14:g.114534645T>G	-
RCV000624216	p.Leu66Ter	nonsense	Inborn genetic diseases	NC_000007.14:g.114534645T>G	ClinVar
rs765647678	p.Gln67Arg	missense variant	-	NC_000007.14:g.114534648A>G	ExAC,TOPMed,gnomAD
rs759949520	p.Gln67Glu	missense variant	-	NC_000007.14:g.114534647C>G	ExAC,gnomAD
rs759949520	p.Gln67Ter	stop gained	-	NC_000007.14:g.114534647C>T	ExAC,gnomAD
RCV000279573	p.Gln67Glu	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114534647C>G	ClinVar
rs775730461	p.Thr70Ala	missense variant	-	NC_000007.14:g.114534656A>G	ExAC,gnomAD
rs1237536573	p.Ser71Arg	missense variant	-	NC_000007.14:g.114534659A>C	gnomAD
rs1237536573	p.Ser71Gly	missense variant	-	NC_000007.14:g.114534659A>G	gnomAD
NCI-TCGA novel	p.Gly72Ter	stop gained	-	NC_000007.14:g.114534662G>T	NCI-TCGA
rs1448096881	p.Lys74Arg	missense variant	-	NC_000007.14:g.114534669A>G	TOPMed
rs763449275	p.Ser75Phe	missense variant	-	NC_000007.14:g.114534672C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser75Tyr	missense variant	-	NC_000007.14:g.114534672C>A	NCI-TCGA
rs764574245	p.Ser78Asn	missense variant	-	NC_000007.14:g.114534681G>A	ExAC,gnomAD
rs764574245	p.Ser78Ile	missense variant	-	NC_000007.14:g.114534681G>T	ExAC,gnomAD
rs1056005508	p.Ser78Gly	missense variant	-	NC_000007.14:g.114534680A>G	gnomAD
rs749932113	p.Ser79Arg	missense variant	-	NC_000007.14:g.114534685T>G	ExAC,TOPMed,gnomAD
rs1416091793	p.Ser79Asn	missense variant	-	NC_000007.14:g.114534684G>A	gnomAD
NCI-TCGA novel	p.Asp80Tyr	missense variant	-	NC_000007.14:g.114534686G>T	NCI-TCGA
rs755668650	p.Gln82His	missense variant	-	NC_000007.14:g.114534694G>C	ExAC,TOPMed,gnomAD
rs765980960	p.Arg83Gly	missense variant	-	NC_000007.14:g.114534695A>G	ExAC,gnomAD
rs1419544157	p.Pro84Ser	missense variant	-	NC_000007.14:g.114534698C>T	TOPMed
rs1342506252	p.Val87Met	missense variant	-	NC_000007.14:g.114628540G>A	TOPMed,gnomAD
COSM1447404	p.Pro88Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114628543C>T	NCI-TCGA Cosmic
rs1330279241	p.Val89Met	missense variant	-	NC_000007.14:g.114628546G>A	TOPMed
rs763737160	p.Ser90Ter	stop gained	-	NC_000007.14:g.114628550C>A	ExAC,gnomAD
rs762699659	p.Ser90Pro	missense variant	-	NC_000007.14:g.114628549T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser90Leu	missense variant	-	NC_000007.14:g.114628550C>T	NCI-TCGA
NCI-TCGA novel	p.Val91Met	missense variant	-	NC_000007.14:g.114628552G>A	NCI-TCGA
rs868366293	p.Ala92Thr	missense variant	-	NC_000007.14:g.114628555G>A	gnomAD
rs1436939063	p.Met94Lys	missense variant	-	NC_000007.14:g.114628562T>A	gnomAD
rs797045587	p.Met94Ile	missense variant	-	NC_000007.14:g.114628563G>T	-
COSM6176000	p.Met94Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114628563G>A	NCI-TCGA Cosmic
RCV000192462	p.Met94Ile	missense variant	-	NC_000007.14:g.114628563G>T	ClinVar
rs757255710	p.Thr95Ser	missense variant	-	NC_000007.14:g.114628564A>T	ExAC,gnomAD
rs1168362217	p.Gln97His	missense variant	-	NC_000007.14:g.114628572G>C	TOPMed
rs750505654	p.Val98Met	missense variant	-	NC_000007.14:g.114628573G>A	ExAC,gnomAD
rs756184095	p.Val98Gly	missense variant	-	NC_000007.14:g.114628574T>G	ExAC,gnomAD
rs1347150082	p.Ile99Phe	missense variant	-	NC_000007.14:g.114628576A>T	gnomAD
rs780212480	p.Thr100Ile	missense variant	-	NC_000007.14:g.114628580C>T	ExAC,gnomAD
COSM6175997	p.Gln103Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114628588C>A	NCI-TCGA Cosmic
COSM1084249	p.Gln105Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114628594C>A	NCI-TCGA Cosmic
rs1428334171	p.Val112Phe	missense variant	-	NC_000007.14:g.114628615G>T	gnomAD
NCI-TCGA novel	p.Ser114Tyr	missense variant	-	NC_000007.14:g.114628622C>A	NCI-TCGA
rs1191637371	p.Pro115Ser	missense variant	-	NC_000007.14:g.114628624C>T	gnomAD
NCI-TCGA novel	p.Gln116Ter	stop gained	-	NC_000007.14:g.114628627C>T	NCI-TCGA
rs773759127	p.Gln117His	missense variant	-	NC_000007.14:g.114628632G>C	ExAC,TOPMed,gnomAD
rs1480440632	p.Ala120Ser	missense variant	-	NC_000007.14:g.114628639G>T	gnomAD
rs1403341767	p.Leu121Phe	missense variant	-	NC_000007.14:g.114628642C>T	gnomAD
NCI-TCGA novel	p.Leu122Ile	missense variant	-	NC_000007.14:g.114628645C>A	NCI-TCGA
rs908446199	p.Ala127Val	missense variant	-	NC_000007.14:g.114628661C>T	TOPMed
rs1383948441	p.Leu130Arg	missense variant	-	NC_000007.14:g.114628670T>G	gnomAD
rs769148228	p.Leu130Met	missense variant	-	NC_000007.14:g.114628669C>A	ExAC,gnomAD
rs772881522	p.Phe138Leu	missense variant	-	NC_000007.14:g.114629820T>C	ExAC,gnomAD
rs1441263206	p.His147Arg	missense variant	-	NC_000007.14:g.114629848A>G	TOPMed
NCI-TCGA novel	p.Leu148Phe	missense variant	-	NC_000007.14:g.114629850C>T	NCI-TCGA
rs1169702315	p.Gln152Ter	stop gained	-	NC_000007.14:g.114629862C>T	gnomAD
rs1338895971	p.Gln155Glu	missense variant	-	NC_000007.14:g.114629871C>G	gnomAD
rs770756604	p.Gln157Pro	missense variant	-	NC_000007.14:g.114629878A>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln158Lys	missense variant	-	NC_000007.14:g.114629880C>A	NCI-TCGA
rs1391902915	p.Gln159His	missense variant	-	NC_000007.14:g.114629885G>T	TOPMed
rs1407370674	p.Gln159Arg	missense variant	-	NC_000007.14:g.114629884A>G	TOPMed
rs776670223	p.Gln160His	missense variant	-	NC_000007.14:g.114629888G>T	ExAC,TOPMed,gnomAD
COSM4941428	p.Gln161Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114629889C>A	NCI-TCGA Cosmic
rs1038896563	p.Gln167Ter	stop gained	-	NC_000007.14:g.114629907C>T	TOPMed
rs1038896563	p.Gln167Lys	missense variant	-	NC_000007.14:g.114629907C>A	TOPMed
RCV000732893	p.Gln168Ter	nonsense	-	NC_000007.14:g.114629910C>T	ClinVar
rs893601763	p.Gln170Ter	stop gained	-	NC_000007.14:g.114629916C>T	TOPMed
rs564204446	p.Gln173Lys	missense variant	-	NC_000007.14:g.114629925C>A	1000Genomes,gnomAD
rs781437567	p.Gln173His	missense variant	-	NC_000007.14:g.114629927A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln174Ter	stop gained	-	NC_000007.14:g.114629928C>T	NCI-TCGA
COSM6175994	p.Gln174Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114629928C>G	NCI-TCGA Cosmic
rs111801240	p.Gln177His	missense variant	-	NC_000007.14:g.114629939A>T	1000Genomes,ESP,TOPMed
NCI-TCGA novel	p.Gln177SerPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.114629936_114629937insTC	NCI-TCGA
rs1243599633	p.Gln178Leu	missense variant	-	NC_000007.14:g.114629941A>T	gnomAD
rs1220494980	p.Gln178GlnTer	stop gained	-	NC_000007.14:g.114629942_114629943insTAA	TOPMed
rs1554434732	p.del179TerGlu	stop gained	-	NC_000007.14:g.114629942_114629943insTAAGAG	TOPMed
rs1003245699	p.Gln179Glu	missense variant	-	NC_000007.14:g.114629943C>G	TOPMed
rs1003245699	p.Gln179Ter	stop gained	-	NC_000007.14:g.114629943C>T	TOPMed
rs1359238420	p.Gln182Pro	missense variant	-	NC_000007.14:g.114629953A>C	TOPMed
NCI-TCGA novel	p.Gln182His	missense variant	-	NC_000007.14:g.114629954G>T	NCI-TCGA
rs771840840	p.Gln183Arg	missense variant	-	NC_000007.14:g.114629956A>G	ExAC,gnomAD
rs1029480822	p.Gln185Leu	missense variant	-	NC_000007.14:g.114629962A>T	TOPMed,gnomAD
rs1265049777	p.Gln186Ter	stop gained	-	NC_000007.14:g.114629964C>T	TOPMed
rs899776651	p.Gly194Ala	missense variant	-	NC_000007.14:g.114629989G>C	TOPMed
rs1221297848	p.Lys195Met	missense variant	-	NC_000007.14:g.114629992A>T	TOPMed
NCI-TCGA novel	p.Lys195Arg	missense variant	-	NC_000007.14:g.114629992A>G	NCI-TCGA
rs1347299046	p.Gln196Glu	missense variant	-	NC_000007.14:g.114629994C>G	gnomAD
rs769729974	p.Ala197Val	missense variant	-	NC_000007.14:g.114629998C>T	ExAC,TOPMed,gnomAD
rs769729974	p.Ala197Gly	missense variant	-	NC_000007.14:g.114629998C>G	ExAC,TOPMed,gnomAD
rs769729974	p.Ala197Glu	missense variant	-	NC_000007.14:g.114629998C>A	ExAC,TOPMed,gnomAD
rs1281884581	p.Gln200His	missense variant	-	NC_000007.14:g.114631530G>C	gnomAD
rs1366123623	p.Gln209Leu	missense variant	-	NC_000007.14:g.114631556A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala211Pro	missense variant	-	NC_000007.14:g.114631561G>C	NCI-TCGA
rs1339945518	p.Gln213His	missense variant	-	NC_000007.14:g.114631569G>T	TOPMed
rs1158252110	p.Gln218Arg	missense variant	-	NC_000007.14:g.114631583A>G	gnomAD
NCI-TCGA novel	p.Gln218Pro	missense variant	-	NC_000007.14:g.114631583A>C	NCI-TCGA
rs1378829324	p.Gln220Arg	missense variant	-	NC_000007.14:g.114631589A>G	gnomAD
rs749254802	p.Gln220His	missense variant	-	NC_000007.14:g.114631590G>C	ExAC,TOPMed,gnomAD
rs768728605	p.Leu222Val	missense variant	-	NC_000007.14:g.114631594C>G	ExAC,gnomAD
rs774304280	p.Met224Ile	missense variant	-	NC_000007.14:g.114631602G>C	ExAC,gnomAD
rs143019903	p.Gln225His	missense variant	-	NC_000007.14:g.114631605A>T	ESP,ExAC,TOPMed
rs1402486267	p.Gln225Glu	missense variant	-	NC_000007.14:g.114631603C>G	gnomAD
rs976182523	p.Gln226Arg	missense variant	-	NC_000007.14:g.114631607A>G	TOPMed
RCV000153269	p.Leu227Ter	frameshift	-	NC_000007.14:g.114631608dup	ClinVar
rs755829229	p.Gln231His	missense variant	-	NC_000007.14:g.114631623G>T	ExAC,TOPMed,gnomAD
COSM281220	p.Ser235Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114631634G>A	NCI-TCGA Cosmic
rs1331241429	p.Leu236Phe	missense variant	-	NC_000007.14:g.114631636C>T	TOPMed
NCI-TCGA novel	p.Gln237Ter	stop gained	-	NC_000007.14:g.114631639C>T	NCI-TCGA
rs761174159	p.Arg238Ser	missense variant	-	NC_000007.14:g.114631642C>A	ExAC,gnomAD
rs766965457	p.Arg238His	missense variant	-	NC_000007.14:g.114631643G>A	ExAC,gnomAD
rs761174159	p.Arg238Cys	missense variant	-	NC_000007.14:g.114631642C>T	ExAC,gnomAD
rs754361203	p.Gln239Arg	missense variant	-	NC_000007.14:g.114631646A>G	ExAC,gnomAD
RCV000760797	p.Gln239Ter	nonsense	-	NC_000007.14:g.114631645C>T	ClinVar
rs148201242	p.Leu241Val	missense variant	-	NC_000007.14:g.114631651C>G	ESP,ExAC,TOPMed,gnomAD
rs148201242	p.Leu241Ile	missense variant	-	NC_000007.14:g.114631651C>A	ESP,ExAC,TOPMed,gnomAD
rs1438512681	p.Pro245Leu	missense variant	-	NC_000007.14:g.114631664C>T	gnomAD
rs767652094	p.Gly247Arg	missense variant	-	NC_000007.14:g.114631669G>C	TOPMed,gnomAD
rs767652094	p.Gly247Ser	missense variant	-	NC_000007.14:g.114631669G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala249Val	missense variant	-	NC_000007.14:g.114631676C>T	NCI-TCGA
rs780869585	p.Ala250Thr	missense variant	-	NC_000007.14:g.114631678G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro252Leu	missense variant	-	NC_000007.14:g.114631685C>T	NCI-TCGA
rs1054712701	p.Ser255Trp	missense variant	-	NC_000007.14:g.114631694C>G	TOPMed,gnomAD
rs1054712701	p.Ser255Leu	missense variant	-	NC_000007.14:g.114631694C>T	TOPMed,gnomAD
rs531504911	p.Ser255Pro	missense variant	-	NC_000007.14:g.114631693T>C	1000Genomes,ExAC,gnomAD
rs1383735594	p.Ser262Asn	missense variant	-	NC_000007.14:g.114642419G>A	gnomAD
rs750028450	p.Ala264Val	missense variant	-	NC_000007.14:g.114642425C>T	ExAC,gnomAD
rs1438024604	p.Glu265Val	missense variant	-	NC_000007.14:g.114642428A>T	TOPMed
NCI-TCGA novel	p.Glu265Asp	missense variant	-	NC_000007.14:g.114642429G>C	NCI-TCGA
rs1276375707	p.Leu269Phe	missense variant	-	NC_000007.14:g.114642441A>T	gnomAD
rs779754644	p.Trp270Arg	missense variant	-	NC_000007.14:g.114642442T>C	ExAC,gnomAD
rs1224336230	p.Trp270Cys	missense variant	-	NC_000007.14:g.114642444G>T	gnomAD
rs753640569	p.Glu272Asp	missense variant	-	NC_000007.14:g.114642450A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu272Ter	stop gained	-	NC_000007.14:g.114642448G>T	NCI-TCGA
rs754927033	p.Gly275Glu	missense variant	-	NC_000007.14:g.114642458G>A	ExAC,TOPMed,gnomAD
COSM6175991	p.Gly275Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114642458G>C	NCI-TCGA Cosmic
rs1207268336	p.Val276Leu	missense variant	-	NC_000007.14:g.114642460G>C	gnomAD
rs778767619	p.Met279Val	missense variant	-	NC_000007.14:g.114642469A>G	ExAC,gnomAD
COSM744080	p.Met279Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114642471G>C	NCI-TCGA Cosmic
rs748231233	p.Asp281Asn	missense variant	-	NC_000007.14:g.114642475G>A	ExAC,TOPMed,gnomAD
COSM1084258	p.Asp281Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114642476A>G	NCI-TCGA Cosmic
rs985325734	p.Gly283Val	missense variant	-	NC_000007.14:g.114642482G>T	TOPMed
rs1192209213	p.Gly283Ser	missense variant	-	NC_000007.14:g.114642481G>A	gnomAD
COSM3256623	p.Gly283Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114642482G>A	NCI-TCGA Cosmic
rs772009456	p.Ile284Phe	missense variant	-	NC_000007.14:g.114642484A>T	ExAC,gnomAD
rs772009456	p.Ile284Val	missense variant	-	NC_000007.14:g.114642484A>G	ExAC,gnomAD
rs778026488	p.Lys285Gln	missense variant	-	NC_000007.14:g.114642487A>C	ExAC,gnomAD
rs1175210435	p.Leu289Pro	missense variant	-	NC_000007.14:g.114642500T>C	gnomAD
rs940890058	p.Asp290Asn	missense variant	-	NC_000007.14:g.114642502G>A	TOPMed,gnomAD
COSM1330159	p.Asp290Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114642504C>A	NCI-TCGA Cosmic
rs1375575897	p.Leu291Pro	missense variant	-	NC_000007.14:g.114642506T>C	gnomAD
rs780676420	p.Thr292Ser	missense variant	-	NC_000007.14:g.114642508A>T	ExAC,TOPMed,gnomAD
rs777132475	p.Thr292Ile	missense variant	-	NC_000007.14:g.114642509C>T	ExAC,TOPMed,gnomAD
rs1384054598	p.Thr293Ser	missense variant	-	NC_000007.14:g.114642512C>G	gnomAD
COSM484651	p.Thr293Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114642512C>T	NCI-TCGA Cosmic
rs770301569	p.Asn294Asp	missense variant	-	NC_000007.14:g.114642514A>G	ExAC,gnomAD
rs937208031	p.Asn294Lys	missense variant	-	NC_000007.14:g.114642516C>A	TOPMed,gnomAD
rs763537390	p.Asn295Lys	missense variant	-	NC_000007.14:g.114642519T>G	ExAC,gnomAD
rs775819986	p.Asn295Ser	missense variant	-	NC_000007.14:g.114642518A>G	ExAC,gnomAD
rs766956626	p.Ser296Thr	missense variant	-	NC_000007.14:g.114642520T>A	ExAC,gnomAD
rs866570059	p.Ser296Phe	missense variant	-	NC_000007.14:g.114642521C>T	-
rs150907165	p.Ser297Cys	missense variant	-	NC_000007.14:g.114642524C>G	ESP,ExAC,TOPMed,gnomAD
rs753643915	p.Ser298Leu	missense variant	-	NC_000007.14:g.114642527C>T	ExAC,TOPMed
rs138374374	p.Ser298Ala	missense variant	-	NC_000007.14:g.114642526T>G	ESP,ExAC,TOPMed,gnomAD
rs1277744858	p.Thr300Ile	missense variant	-	NC_000007.14:g.114642533C>T	TOPMed
rs752528443	p.Thr300Ala	missense variant	-	NC_000007.14:g.114642532A>G	ExAC,TOPMed,gnomAD
rs1050432134	p.Ser302Cys	missense variant	-	NC_000007.14:g.114642539C>G	TOPMed
rs555128980	p.Thr304Ile	missense variant	-	NC_000007.14:g.114642545C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs758423327	p.Thr304Pro	missense variant	-	NC_000007.14:g.114642544A>C	ExAC
rs747155760	p.Ala307Ser	missense variant	-	NC_000007.14:g.114642553G>T	ExAC,gnomAD
rs771268489	p.Ala307Val	missense variant	-	NC_000007.14:g.114642554C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala307Glu	missense variant	-	NC_000007.14:g.114642554C>A	NCI-TCGA
rs889178260	p.Ser308Leu	missense variant	-	NC_000007.14:g.114642557C>T	TOPMed
NCI-TCGA novel	p.Pro309Gln	missense variant	-	NC_000007.14:g.114642560C>A	NCI-TCGA
rs1227082843	p.Pro310Ser	missense variant	-	NC_000007.14:g.114642562C>T	TOPMed
rs1362984312	p.Ile311Val	missense variant	-	NC_000007.14:g.114642565A>G	gnomAD
rs770001809	p.His313Tyr	missense variant	-	NC_000007.14:g.114642571C>T	ExAC,gnomAD
rs1366122974	p.His313Arg	missense variant	-	NC_000007.14:g.114642572A>G	gnomAD
NCI-TCGA novel	p.His313LeuPheSerTerUnk	frameshift	-	NC_000007.14:g.114642572A>-	NCI-TCGA
rs1359401489	p.Ser315Thr	missense variant	-	NC_000007.14:g.114642577T>A	TOPMed
rs1425319727	p.Ser315Phe	missense variant	-	NC_000007.14:g.114642578C>T	TOPMed,gnomAD
rs563897082	p.Ile316Val	missense variant	-	NC_000007.14:g.114642580A>G	ExAC,TOPMed,gnomAD
rs763302537	p.Ile316Thr	missense variant	-	NC_000007.14:g.114642581T>C	ExAC,gnomAD
rs769218331	p.Val317Leu	missense variant	-	NC_000007.14:g.114642583G>C	ExAC,TOPMed,gnomAD
rs1308003272	p.Val317Ala	missense variant	-	NC_000007.14:g.114642584T>C	gnomAD
rs772694863	p.Gly319Glu	missense variant	-	NC_000007.14:g.114642590G>A	ExAC,gnomAD
COSM6108499	p.Gln320Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114642592C>A	NCI-TCGA Cosmic
rs944127085	p.Ser321Tyr	missense variant	-	NC_000007.14:g.114642596C>A	TOPMed
rs375163729	p.Ser321Ala	missense variant	-	NC_000007.14:g.114642595T>G	ESP,TOPMed,gnomAD
rs1039811463	p.Ser322Ala	missense variant	-	NC_000007.14:g.114642598T>G	TOPMed
rs760226272	p.Val323Ile	missense variant	-	NC_000007.14:g.114642601G>A	ExAC,TOPMed,gnomAD
COSM1084260	p.Leu324Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114642604C>A	NCI-TCGA Cosmic
rs753394697	p.Ser325Arg	missense variant	-	NC_000007.14:g.114642609T>G	ExAC,gnomAD
rs1177378764	p.Ala326Ser	missense variant	-	NC_000007.14:g.114642610G>T	gnomAD
rs759256511	p.Arg328Gln	missense variant	-	NC_000007.14:g.114642617G>A	ExAC,TOPMed,gnomAD
rs121908378	p.Arg328Ter	stop gained	Speech-language disorder 1 (spch1)	NC_000007.14:g.114642616C>T	-
RCV000005372	p.Arg328Ter	nonsense	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114642616C>T	ClinVar
rs759256511	p.Arg328Pro	missense variant	-	NC_000007.14:g.114642617G>C	ExAC,TOPMed,gnomAD
RCV000179945	p.Arg328Gln	missense variant	-	NC_000007.14:g.114642617G>A	ClinVar
rs1483420106	p.Asp329Glu	missense variant	-	NC_000007.14:g.114642621C>G	TOPMed
NCI-TCGA novel	p.Asp329Glu	missense variant	-	NC_000007.14:g.114642621C>A	NCI-TCGA
rs886061916	p.Ser330Cys	missense variant	-	NC_000007.14:g.114642622A>T	-
RCV000304764	p.Ser330Cys	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114642622A>T	ClinVar
rs1464232313	p.Ser331Trp	missense variant	-	NC_000007.14:g.114644687C>G	TOPMed,gnomAD
COSM5871621	p.Ser331Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114644687C>T	NCI-TCGA Cosmic
rs372704196	p.His333Leu	missense variant	-	NC_000007.14:g.114644693A>T	ESP,ExAC,TOPMed,gnomAD
rs372704196	p.His333Arg	missense variant	-	NC_000007.14:g.114644693A>G	ESP,ExAC,TOPMed,gnomAD
rs1447805795	p.Glu334Lys	missense variant	-	NC_000007.14:g.114644695G>A	gnomAD
rs757270050	p.Glu334Val	missense variant	-	NC_000007.14:g.114644696A>T	ExAC,gnomAD
rs750582959	p.Thr336Ser	missense variant	-	NC_000007.14:g.114644701A>T	ExAC,gnomAD
rs945804979	p.Thr336Ile	missense variant	-	NC_000007.14:g.114644702C>T	TOPMed
rs1315572414	p.Gly337Glu	missense variant	-	NC_000007.14:g.114644705G>A	gnomAD
rs767291302	p.Ala338Thr	missense variant	-	NC_000007.14:g.114644707G>A	TOPMed
rs767291302	p.Ala338Ser	missense variant	-	NC_000007.14:g.114644707G>T	TOPMed
COSM3877401	p.Ala338Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114644708C>T	NCI-TCGA Cosmic
rs1330529378	p.His340Tyr	missense variant	-	NC_000007.14:g.114644713C>T	TOPMed,gnomAD
rs780371962	p.Thr341Ala	missense variant	-	NC_000007.14:g.114644716A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu342Phe	missense variant	-	NC_000007.14:g.114644719C>T	NCI-TCGA
rs755297474	p.Tyr343Cys	missense variant	-	NC_000007.14:g.114644723A>G	ExAC,gnomAD
rs1295112601	p.His345Arg	missense variant	-	NC_000007.14:g.114644729A>G	TOPMed
COSM1084262	p.Gly346Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114644732G>A	NCI-TCGA Cosmic
rs1349250538	p.Trp350Ter	stop gained	-	NC_000007.14:g.114644745G>A	TOPMed
NCI-TCGA novel	p.Gly352Ser	missense variant	-	NC_000007.14:g.114644749G>A	NCI-TCGA
NCI-TCGA novel	p.Gly352Asp	missense variant	-	NC_000007.14:g.114644750G>A	NCI-TCGA
rs1374396490	p.Ser355Arg	missense variant	-	NC_000007.14:g.114644760C>G	gnomAD
rs748597582	p.Phe360Leu	missense variant	-	NC_000007.14:g.114644775T>G	ExAC,gnomAD
rs1476893897	p.Lys365Met	missense variant	-	NC_000007.14:g.114644789A>T	gnomAD
rs778396336	p.Ala372Ser	missense variant	-	NC_000007.14:g.114652222G>T	ExAC,TOPMed,gnomAD
rs778396336	p.Ala372Thr	missense variant	-	NC_000007.14:g.114652222G>A	ExAC,TOPMed,gnomAD
rs745342916	p.Asp375Gly	missense variant	-	NC_000007.14:g.114652232A>G	ExAC,gnomAD
rs1219589831	p.Arg376Leu	missense variant	-	NC_000007.14:g.114652235G>T	gnomAD
COSM3431129	p.Arg376Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114652235G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser377Asn	missense variant	-	NC_000007.14:g.114652238G>A	NCI-TCGA
rs769296657	p.Thr378Ala	missense variant	-	NC_000007.14:g.114652240A>G	ExAC
NCI-TCGA novel	p.Ala379Ser	missense variant	-	NC_000007.14:g.114652243G>T	NCI-TCGA
NCI-TCGA novel	p.Val387Ala	missense variant	-	NC_000007.14:g.114652268T>C	NCI-TCGA
RCV000234941	p.Gln390Ter	frameshift	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114652276_114652277del	ClinVar
rs748878832	p.Glu392Gly	missense variant	-	NC_000007.14:g.114652283A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu398Val	missense variant	-	NC_000007.14:g.114653936A>T	NCI-TCGA
rs778748061	p.Arg399Cys	missense variant	-	NC_000007.14:g.114653938C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg399Ser	missense variant	-	NC_000007.14:g.114653938C>A	NCI-TCGA
rs1276471970	p.Glu400Lys	missense variant	-	NC_000007.14:g.114653941G>A	gnomAD
rs762564041	p.Arg401Cys	missense variant	-	NC_000007.14:g.114653944C>T	gnomAD
rs1343377230	p.Met406Lys	missense variant	-	NC_000007.14:g.114653960T>A	gnomAD
rs541820585	p.Thr407Asn	missense variant	-	NC_000007.14:g.114653963C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs760596736	p.His408Asp	missense variant	-	NC_000007.14:g.114653965C>G	ExAC,gnomAD
rs376460299	p.His408Gln	missense variant	-	NC_000007.14:g.114653967C>G	ESP,ExAC,TOPMed,gnomAD
RCV000081636	p.His408Gln	missense variant	-	NC_000007.14:g.114653967C>G	ClinVar
rs776679391	p.Met411Leu	missense variant	-	NC_000007.14:g.114653974A>C	ExAC,gnomAD
rs776679391	p.Met411Val	missense variant	-	NC_000007.14:g.114653974A>G	ExAC,gnomAD
rs1270486405	p.Arg412Gln	missense variant	-	NC_000007.14:g.114653978G>A	gnomAD
NCI-TCGA novel	p.Arg412Ter	stop gained	-	NC_000007.14:g.114653977C>T	NCI-TCGA
rs1433376279	p.Glu415Lys	missense variant	-	NC_000007.14:g.114653986G>A	gnomAD
rs1290398957	p.Pro416Arg	missense variant	-	NC_000007.14:g.114653990C>G	gnomAD
rs369313543	p.Pro416Thr	missense variant	-	NC_000007.14:g.114653989C>A	ESP,ExAC,TOPMed,gnomAD
rs775743904	p.Ser419Pro	missense variant	-	NC_000007.14:g.114653998T>C	ExAC,gnomAD
rs775743904	p.Ser419Ala	missense variant	-	NC_000007.14:g.114653998T>G	ExAC,gnomAD
COSM4420675	p.Lys421Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114654006A>T	NCI-TCGA Cosmic
rs751931499	p.Pro422Ser	missense variant	-	NC_000007.14:g.114654007C>T	ExAC,TOPMed,gnomAD
rs751931499	p.Pro422Thr	missense variant	-	NC_000007.14:g.114654007C>A	ExAC,TOPMed,gnomAD
rs1302127838	p.Asn424Lys	missense variant	-	NC_000007.14:g.114658071T>G	TOPMed
NCI-TCGA novel	p.Leu425Met	missense variant	-	NC_000007.14:g.114658072C>A	NCI-TCGA
rs761262072	p.Val426Leu	missense variant	-	NC_000007.14:g.114658075G>T	ExAC,TOPMed,gnomAD
rs1363020478	p.Ser427Cys	missense variant	-	NC_000007.14:g.114658079C>G	gnomAD
rs727503937	p.Ser428Ile	missense variant	-	NC_000007.14:g.114658082G>T	ExAC,gnomAD
rs895017794	p.Ser428Cys	missense variant	-	NC_000007.14:g.114658081A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser428Thr	missense variant	-	NC_000007.14:g.114658082G>C	NCI-TCGA
rs895017794	p.Ser428Gly	missense variant	-	NC_000007.14:g.114658081A>G	TOPMed,gnomAD
RCV000153271	p.Ser428Ile	missense variant	-	NC_000007.14:g.114658082G>T	ClinVar
rs149805525	p.Thr430Asn	missense variant	-	NC_000007.14:g.114658088C>A	ESP,ExAC,TOPMed,gnomAD
rs149805525	p.Thr430Ile	missense variant	-	NC_000007.14:g.114658088C>T	ESP,ExAC,TOPMed,gnomAD
rs1275101579	p.Met431Thr	missense variant	-	NC_000007.14:g.114658091T>C	TOPMed,gnomAD
rs762414429	p.Met431Leu	missense variant	-	NC_000007.14:g.114658090A>T	ExAC,TOPMed,gnomAD
rs762414429	p.Met431Val	missense variant	-	NC_000007.14:g.114658090A>G	ExAC,TOPMed,gnomAD
rs1366555549	p.Ser432Leu	missense variant	-	NC_000007.14:g.114658094C>T	gnomAD
NCI-TCGA novel	p.Ser432Trp	missense variant	-	NC_000007.14:g.114658094C>G	NCI-TCGA
rs763694805	p.Thr438Ala	missense variant	-	NC_000007.14:g.114658111A>G	ExAC,TOPMed,gnomAD
rs751166815	p.Thr438Ile	missense variant	-	NC_000007.14:g.114658112C>T	ExAC,TOPMed,gnomAD
rs763694805	p.Thr438Pro	missense variant	-	NC_000007.14:g.114658111A>C	ExAC,TOPMed,gnomAD
rs1215855483	p.Ser439Phe	missense variant	-	NC_000007.14:g.114658115C>T	gnomAD
rs1285369301	p.Pro440Ser	missense variant	-	NC_000007.14:g.114658117C>T	gnomAD
rs1224001486	p.Gln441His	missense variant	-	NC_000007.14:g.114658122G>C	gnomAD
COSM1084264	p.Pro444His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114658130C>A	NCI-TCGA Cosmic
rs372477540	p.Gln445Arg	missense variant	-	NC_000007.14:g.114658133A>G	ESP,ExAC,gnomAD
rs1190852721	p.Thr446Ser	missense variant	-	NC_000007.14:g.114658135A>T	TOPMed
rs756019068	p.Thr446Asn	missense variant	-	NC_000007.14:g.114658136C>A	ExAC,gnomAD
RCV000719671	p.Thr448Ile	missense variant	History of neurodevelopmental disorder	NC_000007.14:g.114658142C>T	ClinVar
rs199776572	p.Thr451Met	missense variant	-	NC_000007.14:g.114658151C>T	1000Genomes,TOPMed,gnomAD
rs189863975	p.Ala452Val	missense variant	-	NC_000007.14:g.114658154C>T	1000Genomes,ExAC,gnomAD
rs749278394	p.Pro453Ser	missense variant	-	NC_000007.14:g.114658156C>T	ExAC,TOPMed,gnomAD
rs1323738523	p.Ile457Leu	missense variant	-	NC_000007.14:g.114658168A>C	gnomAD
RCV000599291	p.Thr458Ter	frameshift	-	NC_000007.14:g.114658170del	ClinVar
NCI-TCGA novel	p.Gln459Ter	stop gained	-	NC_000007.14:g.114658174C>T	NCI-TCGA
NCI-TCGA novel	p.Gln459Leu	missense variant	-	NC_000007.14:g.114658175A>T	NCI-TCGA
rs748312627	p.Ser462Ter	stop gained	-	NC_000007.14:g.114658184C>A	ExAC
rs1256659385	p.Ile464Leu	missense variant	-	NC_000007.14:g.114658189A>C	TOPMed
rs773700650	p.Ile464Thr	missense variant	-	NC_000007.14:g.114658190T>C	ExAC,gnomAD
rs1256659385	p.Ile464Val	missense variant	-	NC_000007.14:g.114658189A>G	TOPMed
rs761170451	p.Thr465Pro	missense variant	-	NC_000007.14:g.114658192A>C	ExAC,gnomAD
rs771438075	p.Pro466Leu	missense variant	-	NC_000007.14:g.114658196C>T	ExAC,gnomAD
rs776966569	p.Ala467Thr	missense variant	-	NC_000007.14:g.114658198G>A	ExAC,gnomAD
rs1348548231	p.Ser468Asn	missense variant	-	NC_000007.14:g.114658202G>A	gnomAD
rs1230115579	p.Val469Met	missense variant	-	NC_000007.14:g.114658204G>A	gnomAD
NCI-TCGA novel	p.Val469Ala	missense variant	-	NC_000007.14:g.114658205T>C	NCI-TCGA
rs1290752827	p.Pro470Ser	missense variant	-	NC_000007.14:g.114658207C>T	gnomAD
rs1345935751	p.Asn471Ser	missense variant	-	NC_000007.14:g.114658211A>G	TOPMed
rs1277076789	p.Asn471Lys	missense variant	-	NC_000007.14:g.114658212T>A	TOPMed
rs760114813	p.Val472Ala	missense variant	-	NC_000007.14:g.114658214T>C	ExAC,gnomAD
rs760114813	p.Val472Gly	missense variant	-	NC_000007.14:g.114658214T>G	ExAC,gnomAD
rs763457983	p.Ala474Thr	missense variant	-	NC_000007.14:g.114658219G>A	ExAC,TOPMed,gnomAD
rs1458512225	p.Ile475Thr	missense variant	-	NC_000007.14:g.114658223T>C	gnomAD
rs1240394269	p.Ile475Val	missense variant	-	NC_000007.14:g.114658222A>G	gnomAD
RCV000754787	p.Arg476Ter	nonsense	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114658225C>T	ClinVar
rs1178491246	p.Arg476Ter	stop gained	-	NC_000007.14:g.114658225C>T	gnomAD
COSM1084268	p.Arg476Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114658226G>A	NCI-TCGA Cosmic
rs1474090446	p.Arg478Ter	stop gained	-	NC_000007.14:g.114658231C>T	gnomAD
NCI-TCGA novel	p.Asp481Glu	missense variant	-	NC_000007.14:g.114658242C>A	NCI-TCGA
COSM1330158	p.Asp481Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114658240G>T	NCI-TCGA Cosmic
rs755825043	p.Asp481Asn	missense variant	-	NC_000007.14:g.114658240G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys482Gln	missense variant	-	NC_000007.14:g.114658243A>C	NCI-TCGA
rs1380696549	p.Tyr483His	missense variant	-	NC_000007.14:g.114658246T>C	gnomAD
rs779921362	p.Tyr483Cys	missense variant	-	NC_000007.14:g.114658247A>G	ExAC,gnomAD
rs1445779721	p.Pro486His	missense variant	-	NC_000007.14:g.114658256C>A	gnomAD
rs753658194	p.Pro486Ser	missense variant	-	NC_000007.14:g.114658255C>T	ExAC,gnomAD
rs142199218	p.Met487Val	missense variant	-	NC_000007.14:g.114658258A>G	ESP,ExAC,TOPMed,gnomAD
rs201320940	p.Ser488Ala	missense variant	-	NC_000007.14:g.114658261T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser488Thr	missense variant	-	NC_000007.14:g.114658261T>A	NCI-TCGA
RCV000321527	p.Ser488Ala	missense variant	-	NC_000007.14:g.114658261T>G	ClinVar
rs1280238984	p.Ala492Thr	missense variant	-	NC_000007.14:g.114659361G>A	gnomAD
rs766020871	p.Ala492Val	missense variant	-	NC_000007.14:g.114659362C>T	ExAC,gnomAD
rs753732678	p.Pro493Thr	missense variant	-	NC_000007.14:g.114659364C>A	ExAC,gnomAD
rs1300216902	p.Asn494Ser	missense variant	-	NC_000007.14:g.114659368A>G	TOPMed
COSM3632135	p.Asn494Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659369C>G	NCI-TCGA Cosmic
COSM1084270	p.Phe497Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659378T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys499Glu	missense variant	-	NC_000007.14:g.114659382A>G	NCI-TCGA
rs758513311	p.Pro505Leu	missense variant	-	NC_000007.14:g.114659401C>T	ExAC,gnomAD
COSM3632137	p.Pro506Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659404C>T	NCI-TCGA Cosmic
rs1372909550	p.Phe507Leu	missense variant	-	NC_000007.14:g.114659406T>C	TOPMed
COSM3632139	p.Tyr509Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659412T>G	NCI-TCGA Cosmic
rs1218149104	p.Ile513Leu	missense variant	-	NC_000007.14:g.114659424A>C	gnomAD
COSM3784048	p.Arg514Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659429G>C	NCI-TCGA Cosmic
rs1308658577	p.Ser521Phe	missense variant	-	NC_000007.14:g.114659588C>T	TOPMed
COSM744078	p.Arg523Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659594G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu527Phe	missense variant	-	NC_000007.14:g.114659605C>T	NCI-TCGA
COSM1084272	p.Glu529Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.114659611G>T	NCI-TCGA Cosmic
RCV000234952	p.Tyr531His	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114659617T>C	ClinVar
rs879253772	p.Tyr531His	missense variant	-	NC_000007.14:g.114659617T>C	-
NCI-TCGA novel	p.Ser532Cys	missense variant	-	NC_000007.14:g.114659620A>T	NCI-TCGA
COSM3877408	p.Thr535Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659629A>C	NCI-TCGA Cosmic
rs765157455	p.Arg536Gly	missense variant	-	NC_000007.14:g.114659632C>G	ExAC,gnomAD
rs765157455	p.Arg536Trp	missense variant	-	NC_000007.14:g.114659632C>T	ExAC,gnomAD
rs758427088	p.Arg536Gln	missense variant	-	NC_000007.14:g.114659633G>A	ExAC,gnomAD
COSM3256656	p.Arg536Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659633G>T	NCI-TCGA Cosmic
COSM3256657	p.Thr537Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659635A>G	NCI-TCGA Cosmic
rs751732210	p.Ala539Ser	missense variant	-	NC_000007.14:g.114659641G>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe541Tyr	missense variant	-	NC_000007.14:g.114659648T>A	NCI-TCGA
rs1158865993	p.Arg543His	missense variant	-	NC_000007.14:g.114659654G>A	TOPMed
COSM3778043	p.Arg543Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659653C>T	NCI-TCGA Cosmic
COSM744077	p.Asn544Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659657A>T	NCI-TCGA Cosmic
rs1463421426	p.Ala545Val	missense variant	-	NC_000007.14:g.114659660C>T	TOPMed
NCI-TCGA novel	p.Thr547Asn	missense variant	-	NC_000007.14:g.114659666C>A	NCI-TCGA
COSM3877411	p.Trp548Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.114659670G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys549Asn	missense variant	-	NC_000007.14:g.114659673G>T	NCI-TCGA
rs566961630	p.Arg553Cys	missense variant	-	NC_000007.14:g.114662074C>T	1000Genomes,ExAC
rs121908377	p.Arg553His	missense variant	Speech-language disorder 1 (spch1)	NC_000007.14:g.114662075G>A	-
rs121908377	p.Arg553His	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114662075G>A	UniProt,dbSNP
VAR_012278	p.Arg553His	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114662075G>A	UniProt
RCV000005371	p.Arg553His	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114662075G>A	ClinVar
COSM744076	p.Asn555Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114662081A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu556Arg	missense variant	-	NC_000007.14:g.114662084T>G	NCI-TCGA
NCI-TCGA novel	p.Ser557Cys	missense variant	-	NC_000007.14:g.114662086A>T	NCI-TCGA
COSM1330157	p.His559Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114662093A>C	NCI-TCGA Cosmic
COSM78950	p.Cys561Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.114662100T>A	NCI-TCGA Cosmic
rs1270889010	p.Val563Ala	missense variant	-	NC_000007.14:g.114662105T>C	gnomAD
COSM4472192	p.Arg564Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.114662107C>T	NCI-TCGA Cosmic
COSM3431133	p.Arg564Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114662108G>A	NCI-TCGA Cosmic
rs769641584	p.Val565Ile	missense variant	-	NC_000007.14:g.114662110G>A	ExAC,gnomAD
rs1250616703	p.Asn567Ile	missense variant	-	NC_000007.14:g.114662117A>T	gnomAD
rs1183578823	p.Gly570Val	missense variant	-	NC_000007.14:g.114662126G>T	gnomAD
COSM3995292	p.Val572Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114662131G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp573Leu	missense variant	-	NC_000007.14:g.114662135G>T	NCI-TCGA
COSM6108494	p.Trp573Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.114662135G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val575Leu	missense variant	-	NC_000007.14:g.114662140G>T	NCI-TCGA
RCV000478073	p.Val575Ter	frameshift	-	NC_000007.14:g.114662140del	ClinVar
COSM3922530	p.Glu577Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114662146G>A	NCI-TCGA Cosmic
rs774292922	p.Gln581Arg	missense variant	-	NC_000007.14:g.114662159A>G	ExAC
COSM6175989	p.Lys587Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114662178G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr589Ile	missense variant	-	NC_000007.14:g.114662183C>T	NCI-TCGA
COSM3877413	p.Ser591Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114663451A>C	NCI-TCGA Cosmic
rs1400180568	p.Thr593Ala	missense variant	-	NC_000007.14:g.114663457A>G	TOPMed,gnomAD
rs1269264458	p.Leu594Val	missense variant	-	NC_000007.14:g.114663460T>G	gnomAD
RCV000735352	p.Leu594PheIle	missense variant	Global developmental delay (DD)	NC_000007.14:g.114663462_114663463delinsTA	ClinVar
rs766476648	p.Asn597His	missense variant	-	NC_000007.14:g.114663469A>C	ExAC,gnomAD
COSM1447410	p.Asn597LysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.114663464_114663465insA	NCI-TCGA Cosmic
RCV000234955	p.Asn597His	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114663469A>C	ClinVar
rs565909014	p.Ile598Met	missense variant	-	NC_000007.14:g.114663474A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Pro599Ser	missense variant	-	NC_000007.14:g.114663475C>T	NCI-TCGA
rs1347015690	p.Thr600Ser	missense variant	-	NC_000007.14:g.114663479C>G	gnomAD
rs377420314	p.Tyr604Cys	missense variant	-	NC_000007.14:g.114663491A>G	ESP,ExAC,TOPMed,gnomAD
rs1394757420	p.Tyr604Asn	missense variant	-	NC_000007.14:g.114663490T>A	TOPMed
COSM3411499	p.Ala606Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114663496G>A	NCI-TCGA Cosmic
rs765574065	p.Gln613Lys	missense variant	-	NC_000007.14:g.114663517C>A	ExAC,gnomAD
rs765980369	p.Ala614Gly	missense variant	-	NC_000007.14:g.114664274C>G	ExAC,gnomAD
rs182138317	p.Ala615Thr	missense variant	-	NC_000007.14:g.114664276G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs182138317	p.Ala615Ser	missense variant	-	NC_000007.14:g.114664276G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000718769	p.Ala615Thr	missense variant	History of neurodevelopmental disorder	NC_000007.14:g.114664276G>A	ClinVar
RCV000081638	p.Ala615Thr	missense variant	-	NC_000007.14:g.114664276G>A	ClinVar
rs915879314	p.Ala617Val	missense variant	-	NC_000007.14:g.114664283C>T	TOPMed
COSM4359134	p.Glu618Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114664285G>C	NCI-TCGA Cosmic
COSM421634	p.Glu618Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.114664285G>T	NCI-TCGA Cosmic
rs757373725	p.Ser619Asn	missense variant	-	NC_000007.14:g.114664289G>A	ExAC,TOPMed,gnomAD
rs752426529	p.Ser620Asn	missense variant	-	NC_000007.14:g.114664292G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro622Ala	missense variant	-	NC_000007.14:g.114664297C>G	NCI-TCGA
rs758080021	p.Pro627Leu	missense variant	-	NC_000007.14:g.114664313C>T	ExAC,gnomAD
rs779157210	p.Pro627Ser	missense variant	-	NC_000007.14:g.114664312C>T	TOPMed,gnomAD
rs777560011	p.Gly628Val	missense variant	-	NC_000007.14:g.114664316G>T	ExAC,gnomAD
rs770923990	p.Ile630Met	missense variant	-	NC_000007.14:g.114664323A>G	ExAC,TOPMed,gnomAD
rs746884663	p.Ile630Val	missense variant	-	NC_000007.14:g.114664321A>G	ExAC,gnomAD
rs952693445	p.Ile630Thr	missense variant	-	NC_000007.14:g.114664322T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Asn631His	missense variant	-	NC_000007.14:g.114664324A>C	NCI-TCGA
RCV000627494	p.Asn631Ter	frameshift	-	NC_000007.14:g.114664321_114664324ATAA[1]	ClinVar
rs1406288053	p.Asn632Tyr	missense variant	-	NC_000007.14:g.114664327A>T	TOPMed
rs1371304452	p.Ser635Gly	missense variant	-	NC_000007.14:g.114664336A>G	gnomAD
rs1291795029	p.Gly636Val	missense variant	-	NC_000007.14:g.114664340G>T	gnomAD
rs1230202192	p.Leu638Pro	missense variant	-	NC_000007.14:g.114664346T>C	gnomAD
NCI-TCGA novel	p.Ala640Val	missense variant	-	NC_000007.14:g.114664352C>T	NCI-TCGA
rs745987986	p.Val641Ile	missense variant	-	NC_000007.14:g.114664354G>A	ExAC,TOPMed,gnomAD
COSM3632141	p.His642Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114664357C>T	NCI-TCGA Cosmic
rs576347421	p.Glu643Lys	missense variant	-	NC_000007.14:g.114664360G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs576347421	p.Glu643Gln	missense variant	-	NC_000007.14:g.114664360G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs763246182	p.Asp644His	missense variant	-	NC_000007.14:g.114664363G>C	ExAC,TOPMed,gnomAD
rs201084683	p.Asn646Asp	missense variant	-	NC_000007.14:g.114664369A>G	ExAC,TOPMed,gnomAD
rs145154396	p.Asn646Ser	missense variant	-	NC_000007.14:g.114664370A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000153273	p.Asn646Asp	missense variant	-	NC_000007.14:g.114664369A>G	ClinVar
NCI-TCGA novel	p.Asn646Ile	missense variant	-	NC_000007.14:g.114664370A>T	NCI-TCGA
NCI-TCGA novel	p.Asn646His	missense variant	-	NC_000007.14:g.114664369A>C	NCI-TCGA
rs1461838608	p.Asp650Glu	missense variant	-	NC_000007.14:g.114664383T>A	TOPMed
rs1459605752	p.His651Arg	missense variant	-	NC_000007.14:g.114664385A>G	TOPMed,gnomAD
rs1459605752	p.His651Leu	missense variant	-	NC_000007.14:g.114664385A>T	TOPMed,gnomAD
rs377217556	p.Ile652Thr	missense variant	-	NC_000007.14:g.114664388T>C	ESP,TOPMed
rs768186362	p.Ser654Thr	missense variant	-	NC_000007.14:g.114664394G>C	ExAC,gnomAD
rs768186362	p.Ser654Asn	missense variant	-	NC_000007.14:g.114664394G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser654Ile	missense variant	-	NC_000007.14:g.114664394G>T	NCI-TCGA
COSM3831675	p.Gly656Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114664400G>T	NCI-TCGA Cosmic
rs753356750	p.Asn657Lys	missense variant	-	NC_000007.14:g.114664404C>G	ExAC,gnomAD
rs562313396	p.Pro660Leu	missense variant	-	NC_000007.14:g.114664412C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs529427719	p.Gly661Asp	missense variant	-	NC_000007.14:g.114664415G>A	1000Genomes,ExAC,gnomAD
RCV000329630	p.Gly661Asp	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114664415G>A	ClinVar
rs758052155	p.Cys662Trp	missense variant	-	NC_000007.14:g.114664419C>G	ExAC,gnomAD
rs1294048735	p.Ser663Thr	missense variant	-	NC_000007.14:g.114664420T>A	gnomAD
rs1355061824	p.Gln665Arg	missense variant	-	NC_000007.14:g.114664427A>G	gnomAD
rs145254341	p.Pro666Arg	missense variant	-	NC_000007.14:g.114664430C>G	ESP,ExAC,TOPMed,gnomAD
rs145254341	p.Pro666Leu	missense variant	-	NC_000007.14:g.114664430C>T	ESP,ExAC,TOPMed,gnomAD
rs1278315350	p.His669Arg	missense variant	-	NC_000007.14:g.114689784A>G	TOPMed,gnomAD
rs1394481073	p.Ile671Val	missense variant	-	NC_000007.14:g.114689789A>G	TOPMed,gnomAD
COSM269196	p.Ile671Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114689790T>A	NCI-TCGA Cosmic
rs747467925	p.Val673Ile	missense variant	-	NC_000007.14:g.114689795G>A	ExAC,gnomAD
rs1385939134	p.Lys674Glu	missense variant	-	NC_000007.14:g.114689798A>G	gnomAD
NCI-TCGA novel	p.Glu675Lys	missense variant	-	NC_000007.14:g.114689801G>A	NCI-TCGA
rs889341368	p.Glu676Lys	missense variant	-	NC_000007.14:g.114689804G>A	TOPMed
rs774842735	p.Val678Leu	missense variant	-	NC_000007.14:g.114689810G>C	ExAC,gnomAD
rs774842735	p.Val678Met	missense variant	-	NC_000007.14:g.114689810G>A	ExAC,gnomAD
rs1225170530	p.Ile679Thr	missense variant	-	NC_000007.14:g.114689814T>C	gnomAD
rs763629604	p.Ala680Thr	missense variant	-	NC_000007.14:g.114689816G>A	ExAC,gnomAD
rs1442230907	p.Ala680Val	missense variant	-	NC_000007.14:g.114689817C>T	gnomAD
COSM452175	p.Glu683Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114689825G>A	NCI-TCGA Cosmic
rs773947565	p.Asp684Val	missense variant	-	NC_000007.14:g.114689829A>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro686Gln	missense variant	-	NC_000007.14:g.114689835C>A	NCI-TCGA
rs202008325	p.Met687Val	missense variant	-	NC_000007.14:g.114689837A>G	ESP,ExAC,TOPMed,gnomAD
rs1349469230	p.Ser688Thr	missense variant	-	NC_000007.14:g.114689840T>A	TOPMed,gnomAD
rs750287608	p.Leu689Ser	missense variant	-	NC_000007.14:g.114689844T>C	ExAC,TOPMed,gnomAD
rs755981069	p.Val690Gly	missense variant	-	NC_000007.14:g.114689847T>G	ExAC,gnomAD
rs1468750371	p.Thr691Lys	missense variant	-	NC_000007.14:g.114689850C>A	gnomAD
rs1251042963	p.Asn694Tyr	missense variant	-	NC_000007.14:g.114689858A>T	gnomAD
rs928369081	p.His695Pro	missense variant	-	NC_000007.14:g.114689862A>C	TOPMed,gnomAD
rs1452002022	p.Ser696Gly	missense variant	-	NC_000007.14:g.114689864A>G	TOPMed
rs1184039801	p.Pro697Leu	missense variant	-	NC_000007.14:g.114689868C>T	gnomAD
rs147624408	p.Glu700Asp	missense variant	-	NC_000007.14:g.114689878A>T	ESP,ExAC,TOPMed,gnomAD
rs753857220	p.Glu700Lys	missense variant	-	NC_000007.14:g.114689876G>A	ExAC,gnomAD
RCV000357709	p.Glu700Asp	missense variant	-	NC_000007.14:g.114689878A>T	ClinVar
rs1397056325	p.Asp701Asn	missense variant	-	NC_000007.14:g.114689879G>A	gnomAD
rs748314629	p.Asp702Asn	missense variant	-	NC_000007.14:g.114689882G>A	ExAC,gnomAD
COSM1084276	p.Arg703Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114689886G>A	NCI-TCGA Cosmic
COSM1084278	p.Glu704Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114689890G>T	NCI-TCGA Cosmic
rs758714987	p.Ile705Val	missense variant	-	NC_000007.14:g.114689891A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu708Lys	missense variant	-	NC_000007.14:g.114689900G>A	NCI-TCGA
rs771314598	p.Pro709Leu	missense variant	-	NC_000007.14:g.114689904C>T	ExAC,TOPMed,gnomAD
COSM1084280	p.Pro709Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114689903C>T	NCI-TCGA Cosmic
rs1236343176	p.Pro709Thr	missense variant	-	NC_000007.14:g.114689903C>A	gnomAD
rs960747265	p.Ser711Phe	missense variant	-	NC_000007.14:g.114689910C>T	TOPMed,gnomAD
rs1212829863	p.Glu712Asp	missense variant	-	NC_000007.14:g.114689914A>T	gnomAD
rs369839969	p.Asp713Glu	missense variant	-	NC_000007.14:g.114689917T>A	ESP,ExAC,TOPMed,gnomAD
rs140766407	p.Leu714Pro	missense variant	-	NC_000007.14:g.114689919T>C	ESP,ExAC,TOPMed,gnomAD
rs746400429	p.Leu714Val	missense variant	-	NC_000007.14:g.114689918C>G	ExAC,TOPMed,gnomAD
rs1023491570	p.Glu715Gly	missense variant	-	NC_000007.14:g.114689922A>G	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0003635	Apraxias	group	BEFREE;CTD_human
C0004352	Autistic Disorder	group	BEFREE;CTD_human
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0008060	child abuse behavior	phenotype	BEFREE
C0008073	Developmental Disabilities	group	BEFREE
C0009241	Cognition Disorders	group	BEFREE
C0009460	Communication impairment	phenotype	BEFREE
C0010346	Crohn Disease	disease	BEFREE
C0010606	Adenoid Cystic Carcinoma	disease	CTD_human
C0014175	Endometriosis	disease	GWASCAT
C0014544	Epilepsy	disease	BEFREE
C0018524	Hallucinations	disease	BEFREE
C0023009	Speech and language disorder	group	BEFREE
C0023012	Language Delay	phenotype	CTD_human;HPO
C0023014	Language Development Disorders	group	CTD_human
C0023015	Language Disorders	group	BEFREE;LHGDN
C0023493	Adult T-Cell Lymphoma/Leukemia	disease	BEFREE
C0024299	Lymphoma	group	BEFREE
C0025958	Microcephaly	disease	BEFREE
C0026470	Monoclonal Gammopathy of Undetermined Significance	disease	BEFREE
C0026650	Movement Disorders	group	BEFREE
C0026764	Multiple Myeloma	disease	BEFREE
C0027404	Narcolepsy	disease	GWASDB
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027765	nervous system disorder	group	BEFREE
C0029463	Osteosarcoma	disease	BEFREE
C0036337	Schizoaffective Disorder	disease	BEFREE
C0036341	Schizophrenia	disease	BEFREE;LHGDN;PSYGENET
C0036363	Schizotypal Personality Disorder	disease	BEFREE
C0037822	Speech Disorders	group	BEFREE;LHGDN
C0038506	Stuttering	phenotype	BEFREE
C0041696	Unipolar Depression	disease	BEFREE;PSYGENET
C0175693	Russell-Silver syndrome	disease	BEFREE;CTD_human
C0221765	Chronic schizophrenia	disease	BEFREE
C0233715	Speech impairment	phenotype	HPO
C0234526	Ideational Apraxia	disease	CTD_human
C0234527	Apraxia, Motor	phenotype	CTD_human
C0234529	Dressing Apraxia	disease	CTD_human
C0241210	Speech Delay	phenotype	BEFREE;CTD_human;HPO
C0264611	Apraxia of Phonation	disease	CTD_human
C0266617	Congenital anomaly of face	group	HPO
C0282513	Primary Progressive Aphasia (disorder)	disease	BEFREE
C0338656	Impaired cognition	disease	BEFREE
C0349231	Phobic anxiety disorder	disease	BEFREE
C0349391	Apraxia, Verbal	disease	BEFREE;CTD_human
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0422892	Apraxia, Gestural	disease	CTD_human
C0424574	Duration of sleep	phenotype	GWASCAT
C0454608	Apraxia, Oral	disease	CTD_human
C0454644	Delayed speech and language development	phenotype	HPO
C0454651	Specific language impairment	disease	BEFREE
C0454655	Semantic-Pragmatic Disorder	disease	CTD_human
C0476254	Dyslexia	disease	BEFREE
C0557874	Global developmental delay	disease	BEFREE
C0585442	Osteosarcoma of bone	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0730557	Emotional abuse	phenotype	BEFREE
C0750927	Apraxia, Developmental Verbal	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C0750928	Apraxia, Facial-Oral	disease	CTD_human
C0751050	Communication Disorders, Developmental	disease	BEFREE
C0751072	Frontotemporal Lobar Degeneration	disease	BEFREE
C0751257	Auditory Processing Disorder, Central	disease	CTD_human
C0751633	Carotid Artery Plaque	phenotype	BEFREE
C0871215	Reading Disabilities	disease	BEFREE
C0871470	Systolic Pressure	phenotype	GWASCAT
C1269683	Major Depressive Disorder	disease	BEFREE;PSYGENET
C1290857	Disorder of face	group	HPO
C1510586	Autism Spectrum Disorders	disease	BEFREE
C1535926	Neurodevelopmental Disorders	group	BEFREE
C1838027	Incomprehensible speech	phenotype	HPO
C1845668	Perisylvian syndrome	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C3495144	Apraxia, Articulatory	disease	CTD_human
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3811918	GRN-related frontotemporal dementia	disease	BEFREE
C4021845	Oromotor apraxia	disease	HPO
C4025871	Abnormality of the face	phenotype	HPO
C4520981	Abnormality of the basal ganglia	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
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:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003677	DNA binding	IDA
GO:0003700	DNA-binding transcription factor activity	IDA
GO:0005515	protein binding	IPI
GO:0042802	identical protein binding	IPI
GO:0042803	protein homodimerization activity	IDA
GO:0043565	sequence-specific DNA binding	IDA
GO:0046872	metal ion binding	IEA
GO:0050681	androgen receptor binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA
GO:0002053	positive regulation of mesenchymal cell proliferation	IEA
GO:0007519	skeletal muscle tissue development	IEA
GO:0009791	post-embryonic development	IEA
GO:0021549	cerebellum development	IEA
GO:0021757	caudate nucleus development	IMP
GO:0021758	putamen development	IMP
GO:0021987	cerebral cortex development	IEP
GO:0033574	response to testosterone	IEA
GO:0042297	vocal learning	IEA
GO:0043010	camera-type eye development	IEA
GO:0045892	negative regulation of transcription, DNA-templated	IDA
GO:0048286	lung alveolus development	IEA
GO:0048745	smooth muscle tissue development	IEA
GO:0060013	righting reflex	IEA
GO:0060501	positive regulation of epithelial cell proliferation involved in lung morphogenesis	IEA
GO:0098582	innate vocalization behavior	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of FOXP2 mRNA	24810058
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of FOXP2 mRNA	25510870
C029497	2,3-bis(3'-hydroxybenzyl)butyrolactone	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of FOXP2 mRNA	19167446
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of FOXP2 mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of FOXP2 mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of FOXP2 mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of FOXP2 mRNA	25510870
C028451	3,4,3',4'-tetrachlorobiphenyl	3,4,3',4'-tetrachlorobiphenyl inhibits the reaction [Dietary Fats results in increased expression of FOXP2 mRNA]	19467301
C017906	3-dinitrobenzene	3-dinitrobenzene results in decreased expression of FOXP2 mRNA	21983209
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 increased expression of FOXP2 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 increased expression of FOXP2 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide affects the expression of FOXP2 mRNA	20382639
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of FOXP2 mRNA	22485181
C496492	abrine	abrine results in decreased expression of FOXP2 mRNA	22595364
D000082	Acetaminophen	Acetaminophen results in increased expression of FOXP2 mRNA	30723492
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of FOXP2 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of FOXP2 intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of FOXP2 mRNA	25378103
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of FOXP2 mRNA	24449571
C015001	arsenite	arsenite results in decreased methylation of FOXP2 promoter	23974009
C049935	avobenzone	avobenzone results in decreased expression of FOXP2 mRNA	31016361
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of FOXP2 mRNA	22316170
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of FOXP2 mRNA	21839799
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of FOXP2 intron	30157460
C006780	bisphenol A	bisphenol A affects the expression of FOXP2 mRNA	23557687
C006780	bisphenol A	bisphenol A affects the methylation of FOXP2 promoter	27334623
C006780	bisphenol A	bisphenol A results in increased expression of FOXP2 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of FOXP2 mRNA	30816183
C000611646	bisphenol F	bisphenol F results in increased expression of FOXP2 mRNA	30951980
D019256	Cadmium Chloride	Cadmium Chloride affects the expression of FOXP2 mRNA	18974090
D002220	Carbamazepine	Carbamazepine affects the expression of FOXP2 mRNA	25979313
C054133	casticin	casticin results in decreased expression of FOXP2 mRNA	28444820
D007631	Chlordecone	FOXP2 gene SNP affects the susceptibility to Chlordecone	25622337
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of FOXP2 gene	20938992
D003024	Clozapine	Clozapine results in increased expression of FOXP2 mRNA	17266109
D003300	Copper	[NSC 689534 binds to Copper] which results in increased expression of FOXP2 mRNA	20971185
D003375	Coumestrol	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in decreased expression of FOXP2 mRNA	19167446
D003471	Cuprizone	Cuprizone results in increased expression of FOXP2 mRNA	26577399
D016572	Cyclosporine	Cyclosporine results in increased expression of FOXP2 mRNA	27989131
D003634	DDT	DDT results in decreased expression of FOXP2 mRNA	30207508
D003976	Diazinon	Diazinon results in increased expression of FOXP2 mRNA	29108742
D003999	Dichloroacetic Acid	Dichloroacetic Acid results in increased expression of FOXP2 mRNA	28962523
D004041	Dietary Fats	3,4,3',4'-tetrachlorobiphenyl inhibits the reaction [Dietary Fats results in increased expression of FOXP2 mRNA]	19467301
D004041	Dietary Fats	Dietary Fats results in decreased expression of FOXP2 mRNA	25016146
D004041	Dietary Fats	Dietary Fats results in increased expression of FOXP2 mRNA	19467301
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of FOXP2 mRNA	31163220
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of FOXP2 mRNA	29945229
D004054	Diethylstilbestrol	Diethylstilbestrol results in decreased expression of FOXP2 mRNA	25242112
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 increased expression of FOXP2 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 increased expression of FOXP2 mRNA	27188386
D004958	Estradiol	Estradiol affects the expression of FOXP2 mRNA	23557687
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of FOXP2 mRNA	20227414
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of FOXP2 gene	20938992
D005557	Formaldehyde	Formaldehyde results in decreased expression of FOXP2 mRNA	27664576
D006830	Hydralazine	[Hydralazine co-treated with Valproic Acid] results in decreased expression of FOXP2 mRNA	17183730
C008261	lead acetate	lead acetate results in decreased expression of FOXP2 mRNA	22613225
D008345	Manganese	Manganese results in increased expression of FOXP2 mRNA	17175027
C025340	manganese chloride	manganese chloride results in increased expression of FOXP2 mRNA	17175027
D008558	Melphalan	Melphalan results in decreased expression of FOXP2 mRNA	22363485
D008627	Mercuric Chloride	Mercuric Chloride affects the expression of FOXP2 mRNA	20353558
D008701	Methapyrilene	Methapyrilene results in increased methylation of FOXP2 intron	30157460
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of FOXP2 gene	20938992
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of FOXP2 mRNA	23649840
D008777	Methyltestosterone	Methyltestosterone results in decreased expression of FOXP2 mRNA	29458080
C000622638	MLN7243	MLN7243 results in decreased sumoylation of FOXP2 protein	31285264
D009532	Nickel	Nickel results in decreased expression of FOXP2 mRNA	24768652; 25583101;
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in increased expression of FOXP2 mRNA	20971185
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of FOXP2 mRNA	25510870
D010622	Phencyclidine	Phencyclidine results in increased expression of FOXP2 mRNA	17266109
D010634	Phenobarbital	Phenobarbital affects the expression of FOXP2 mRNA	23091169
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 increased expression of FOXP2 mRNA	27188386
C006253	pirinixic acid	pirinixic acid results in increased expression of FOXP2 mRNA	18301758
D012402	Rotenone	Rotenone results in decreased expression of FOXP2 mRNA	29955902
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of FOXP2 mRNA	25895662
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of FOXP2 mRNA	23221170
D012834	Silver	Silver results in increased expression of FOXP2 mRNA	26551752
C017947	sodium arsenite	sodium arsenite results in decreased expression of FOXP2 mRNA	29361514
C040109	stanolone benzoate	stanolone benzoate affects the expression of FOXP2 mRNA	25247470
C040109	stanolone benzoate	stanolone benzoate affects the expression of FOXP2 protein	25247470
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of FOXP2 mRNA	31299295
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of FOXP2 mRNA	24058054
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of FOXP2 mRNA	22298810
D013849	Thimerosal	Thimerosal results in increased expression of FOXP2 mRNA	27188386
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of FOXP2 mRNA	30414959
D014212	Tretinoin	Tretinoin results in increased expression of FOXP2 mRNA	21934132
D014260	Triclosan	Triclosan results in decreased expression of FOXP2 mRNA	29596926
C013320	tris(2-butoxyethyl) phosphate	tris(2-butoxyethyl) phosphate affects the expression of FOXP2 mRNA	29024780
D014635	Valproic Acid	[Hydralazine co-treated with Valproic Acid] results in decreased expression of FOXP2 mRNA	17183730
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 increased expression of FOXP2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in increased expression of FOXP2 mRNA	23179753; 24383497; 26272509;
D014635	Valproic Acid	Valproic Acid affects the expression of FOXP2 mRNA	17963808
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of FOXP2 gene	25560391
D000077337	Vorinostat	Vorinostat results in increased expression of FOXP2 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0160	Chromosomal rearrangement
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0479	Metal-binding
KW-0539	Nucleus
KW-1185	Reference proteome
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR001766	Fork_head_dom
IPR032354	FOXP-CC
IPR030456	TF_fork_head_CS_2
IPR036388	WH-like_DNA-bd_sf
IPR036390	WH_DNA-bd_sf

PROSITE

PROSITE ID	PROSITE Term
PS00658	FORK_HEAD_2
PS50039	FORK_HEAD_3
PS00028	ZINC_FINGER_C2H2_1

Pfam

Pfam ID	Pfam Term
PF00250	Forkhead
PF16159	FOXP-CC

Gene: FOXP2

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

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