CleftGeneDB-Search

Gene: PHF8

Basic information

Tag	Content
Uniprot ID	Q9UPP1; B3KMV4; B7Z911; Q5H9U5; Q5JPR9; Q5JPS0; Q5JPS2; Q5JPS3; Q5VUJ4; Q7Z6D4; Q9HAH2;
Entrez ID	23133
Genbank protein ID	AAH53861.1; CAI45929.1; BAB13877.1; BAG51116.1; BAA83063.1; BAH14147.1;
Genbank nucleotide ID	XM_017029362.1; NM_001184896.1; NM_015107.2; NM_001184897.1;
Ensembl protein ID	ENSP00000319473; ENSP00000340051; ENSP00000350676; ENSP00000338868;
Ensembl nucleotide ID	ENSG00000172943
Gene name	Histone lysine demethylase PHF8
Gene symbol	PHF8
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	17661819; 17594395; 16199551;
Functional description	Histone lysine demethylase with selectivity for the di- and monomethyl states that plays a key role cell cycle progression, rDNA transcription and brain development. Demethylates mono- and dimethylated histone H3 'Lys-9' residue (H3K9Me1 and H3K9Me2), dimethylated H3 'Lys-27' (H3K27Me2) and monomethylated histone H4 'Lys-20' residue (H4K20Me1). Acts as a transcription activator as H3K9Me1, H3K9Me2, H3K27Me2 and H4K20Me1 are epigenetic repressive marks. Involved in cell cycle progression by being required to control G1-S transition. Acts as a coactivator of rDNA transcription, by activating polymerase I (pol I) mediated transcription of rRNA genes. Required for brain development, probably by regulating expression of neuron-specific genes. Only has activity toward H4K20Me1 when nucleosome is used as a substrate and when not histone octamer is used as substrate. May also have weak activity toward dimethylated H3 'Lys-36' (H3K36Me2), however, the relevance of this result remains unsure in vivo. Specifically binds trimethylated 'Lys-4' of histone H3 (H3K4me3), affecting histone demethylase specificity: has weak activity toward H3K9Me2 in absence of H3K4me3, while it has high activity toward H3K9me2 when binding H3K4me3.
Sequence	MNRSRAIVQR GRVLPPPAPL DTTNLAGRRT LQGRAKMASV PVYCLCRLPY DVTRFMIECD 60 MCQDWFHGSC VGVEEEKAAD IDLYHCPNCE VLHGPSIMKK RRGSSKGHDT HKGKPVKTGS 120 PTFVRELRSR TFDSSDEVIL KPTGNQLTVE FLEENSFSVP ILVLKKDGLG MTLPSPSFTV 180 RDVEHYVGSD KEIDVIDVTR QADCKMKLGD FVKYYYSGKR EKVLNVISLE FSDTRLSNLV 240 ETPKIVRKLS WVENLWPEEC VFERPNVQKY CLMSVRDSYT DFHIDFGGTS VWYHVLKGEK 300 IFYLIRPTNA NLTLFECWSS SSNQNEMFFG DQVDKCYKCS VKQGQTLFIP TGWIHAVLTP 360 VDCLAFGGNF LHSLNIEMQL KAYEIEKRLS TADLFRFPNF ETICWYVGKH ILDIFRGLRE 420 NRRHPASYLV HGGKALNLAF RAWTRKEALP DHEDEIPETV RTVQLIKDLA REIRLVEDIF 480 QQNVGKTSNI FGLQRIFPAG SIPLTRPAHS TSVSMSRLSL PSKNGSKKKG LKPKELFKKA 540 ERKGKESSAL GPAGQLSYNL MDTYSHQALK TGSFQKAKFN ITGACLNDSD DDSPDLDLDG 600 NESPLALLMS NGSTKRVKSL SKSRRTKIAK KVDKARLMAE QVMEDEFDLD SDDELQIDER 660 LGKEKATLII RPKFPRKLPR AKPCSDPNRV REPGEVEFDI EEDYTTDEDM VEGVEGKLGN 720 GSGAGGILDL LKASRQVGGP DYAALTEAPA SPSTQEAIQG MLCMANLQSS SSSPATSSLQ 780 AWWTGGQDRS SGSSSSGLGT VSNSPASQRT PGKRPIKRPA YWRTESEEEE ENASLDEQDS 840 LGACFKDAEY IYPSLESDDD DPALKSRPKK KKNSDDAPWS PKARVTPTLP KQDRPVREGT 900 RVASIETGLA AAAAKLAQQE LQKAQKKKYI KKKPLLKEVE QPRPQDSNLS LTVPAPTVAA 960 TPQLVTSSSP LPPPEPKQEA LSGSLADHEY TARPNAFGMA QANRSTTPMA PGVFLTQRRP 1020 SVGSQSNQAG QGKRPKKGLA TAKQRLGRIL KIHRNGKLLL

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 in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2WWU
3K3N
3K3O
3KV4
4DO0
2WWU
3K3N
3K3O
3KV4

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	PHF8		A0A452DKR2		Capra hircus	Prediction	More>>
1:1 ortholog	PHF8	23133	Q9UPP1	CPO,CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Phf8	320595	Q80TJ7		Mus musculus	Prediction	More>>
1:1 ortholog	PHF8	465652	A0A2I3SKZ5		Pan troglodytes	Prediction	More>>
1:1 ortholog	PHF8	100520413	A0A287B7U8		Sus scrofa	Prediction	More>>
1:1 ortholog	PHF8	100344764	G1SHZ3		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Phf8	317425	D4AD31		Rattus norvegicus	Prediction	More>>
1:1 ortholog	phf8	566534	P0CH95		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
PHF8	c.836T>C; p.F279S	PCR	17661819
PHF8	c.529A>T; p.K177X	IPS; sequencing; PCR	17594395

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1401568540	p.Ser4Asn	missense variant	-	NC_000023.11:g.54044880C>T	TOPMed
NCI-TCGA novel	p.Arg5His	missense variant	-	chrX:g.54044877C>T	NCI-TCGA
rs1330348926	p.Arg5His	missense variant	-	NC_000023.11:g.54044877C>T	TOPMed,gnomAD
rs1318687486	p.Arg5Cys	missense variant	-	NC_000023.11:g.54044878G>A	TOPMed
rs781990132	p.Ala6Pro	missense variant	-	NC_000023.11:g.54044875C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs781990132	p.Ala6Thr	missense variant	-	NC_000023.11:g.54044875C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs782087447	p.Ile7Val	missense variant	-	NC_000023.11:g.54042818T>C	ExAC,gnomAD
rs1428921667	p.Gln9Arg	missense variant	-	NC_000023.11:g.54042811T>C	TOPMed
NCI-TCGA novel	p.Arg10Gly	missense variant	-	chrX:g.54042809T>C	NCI-TCGA
rs1299848643	p.Arg12Ser	missense variant	-	NC_000023.11:g.54042803G>T	TOPMed
NCI-TCGA novel	p.Arg12His	missense variant	-	chrX:g.54042802C>T	NCI-TCGA
rs1557116331	p.Val13Leu	missense variant	-	NC_000023.11:g.54042800C>A	gnomAD
rs781976643	p.Pro16Thr	missense variant	-	NC_000023.11:g.54042791G>T	ExAC,gnomAD
rs1557116325	p.Pro17Thr	missense variant	-	NC_000023.11:g.54042788G>T	gnomAD
RCV000509211	p.Pro17Ser	missense variant	Siderius X-linked mental retardation syndrome (MRXSSD)	NC_000023.11:g.54042788G>A	ClinVar
rs1557116325	p.Pro17Ser	missense variant	-	NC_000023.11:g.54042788G>A	gnomAD
rs376594438	p.Ala18Val	missense variant	-	NC_000023.11:g.54042784G>A	ExAC,TOPMed,gnomAD
rs1557116315	p.Pro19Thr	missense variant	-	NC_000023.11:g.54042782G>T	gnomAD
rs782678219	p.Leu20Phe	missense variant	-	NC_000023.11:g.54042779G>A	ExAC,gnomAD
rs1301964328	p.Leu20Arg	missense variant	-	NC_000023.11:g.54042778A>C	TOPMed
rs886044852	p.Asp21Gly	missense variant	-	NC_000023.11:g.54042775T>C	gnomAD
RCV000261029	p.Asp21Gly	missense variant	-	NC_000023.11:g.54042775T>C	ClinVar
NCI-TCGA novel	p.Thr22Met	missense variant	-	chrX:g.54042772G>A	NCI-TCGA
rs1201431283	p.Thr23Ala	missense variant	-	NC_000023.11:g.54042770T>C	TOPMed
rs782307892	p.Asn24Lys	missense variant	-	NC_000023.11:g.54042765G>T	ExAC,gnomAD
rs370323010	p.Gly27Val	missense variant	-	NC_000023.11:g.54042757C>A	ESP,ExAC,TOPMed,gnomAD
rs782495598	p.Arg29Gly	missense variant	-	NC_000023.11:g.54042752T>C	ExAC,gnomAD
rs1217514482	p.Thr30Met	missense variant	-	NC_000023.11:g.54042748G>A	TOPMed,gnomAD
rs1217514482	p.Thr30Lys	missense variant	-	NC_000023.11:g.54042748G>T	TOPMed,gnomAD
rs993263530	p.Arg34Gln	missense variant	-	NC_000023.11:g.54042736C>T	TOPMed
rs781851128	p.Arg34Ter	stop gained	-	NC_000023.11:g.54042737G>A	ExAC,gnomAD
rs993263530	p.Arg34Pro	missense variant	-	NC_000023.11:g.54042736C>G	TOPMed
rs1557116269	p.Ala35Pro	missense variant	-	NC_000023.11:g.54042734C>G	gnomAD
rs782648721	p.Ala35Val	missense variant	-	NC_000023.11:g.54042733G>A	ExAC,gnomAD
rs1478213644	p.Glu58Gly	missense variant	-	NC_000023.11:g.54042664T>C	TOPMed
NCI-TCGA novel	p.Met61Lys	missense variant	-	chrX:g.54042655A>T	NCI-TCGA
rs782808313	p.Gln63Glu	missense variant	-	NC_000023.11:g.54042650G>C	ExAC,gnomAD
rs1557116239	p.Gly68Asp	missense variant	-	NC_000023.11:g.54042634C>T	gnomAD
rs781859322	p.Gly72Asp	missense variant	-	NC_000023.11:g.54022835C>T	ExAC
NCI-TCGA novel	p.Glu75Asp	missense variant	-	chrX:g.54022825C>A	NCI-TCGA
RCV000522013	p.Ala78Ter	frameshift	-	NC_000023.11:g.54022821dup	ClinVar
rs782797933	p.Asp80Glu	missense variant	-	NC_000023.11:g.54022810G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys86Tyr	missense variant	-	chrX:g.54022793C>T	NCI-TCGA
rs781786649	p.Asn88Lys	missense variant	-	NC_000023.11:g.54022786G>T	ExAC,gnomAD
COSM1151673	p.Glu90Ter	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.54022782C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser96Phe	missense variant	-	chrX:g.54022763G>A	NCI-TCGA
rs781825432	p.Arg101His	missense variant	-	NC_000023.11:g.54022358C>T	1000Genomes,TOPMed,gnomAD
rs782278302	p.Arg101Cys	missense variant	-	NC_000023.11:g.54022359G>A	ExAC,gnomAD
rs782556188	p.Arg102Cys	missense variant	-	NC_000023.11:g.54022356G>A	ExAC,gnomAD
rs1557110261	p.Arg102His	missense variant	-	NC_000023.11:g.54022355C>T	gnomAD
rs782556188	p.Arg102Cys	missense variant	-	chrX:g.54022356G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM4825435	p.Ser104Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54022349G>A	NCI-TCGA Cosmic
rs797045886	p.His108Asn	missense variant	-	NC_000023.11:g.54022338G>T	TOPMed
rs782460207	p.His108Arg	missense variant	-	NC_000023.11:g.54022337T>C	ExAC,gnomAD
RCV000192593	p.His108Asn	missense variant	-	NC_000023.11:g.54022338G>T	ClinVar
rs148664730	p.Asp109Glu	missense variant	-	NC_000023.11:g.54022333A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000720963	p.Asp109Glu	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.54022333A>T	ClinVar
rs999300149	p.Thr110Ile	missense variant	-	NC_000023.11:g.54022331G>A	TOPMed
rs1557110237	p.Thr110Ala	missense variant	-	NC_000023.11:g.54022332T>C	gnomAD
NCI-TCGA novel	p.His111Arg	missense variant	-	chrX:g.54022328T>C	NCI-TCGA
NCI-TCGA novel	p.Lys114AsnPheSerTerUnk	frameshift	-	chrX:g.54022318T>-	NCI-TCGA
rs1557110214	p.Gly119Arg	missense variant	-	NC_000023.11:g.54022305C>T	-
RCV000523717	p.Gly119Arg	missense variant	-	NC_000023.11:g.54022305C>T	ClinVar
rs1347887893	p.Ser120Asn	missense variant	-	NC_000023.11:g.54022301C>T	TOPMed
rs1557110209	p.Pro121Ala	missense variant	-	NC_000023.11:g.54022299G>C	gnomAD
rs782805084	p.Thr122Ala	missense variant	-	NC_000023.11:g.54022296T>C	ExAC,gnomAD
rs782156466	p.Thr122Met	missense variant	-	NC_000023.11:g.54022295G>A	ExAC,gnomAD
rs199664796	p.Val124Ile	missense variant	-	NC_000023.11:g.54022290C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs199664796	p.Val124Ile	missense variant	-	chrX:g.54022290C>T	NCI-TCGA
rs199664796	p.Val124Leu	missense variant	-	NC_000023.11:g.54022290C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1033986927	p.Arg128Leu	missense variant	-	NC_000023.11:g.54022277C>A	TOPMed
rs1033986927	p.Arg128Gln	missense variant	-	NC_000023.11:g.54022277C>T	TOPMed
rs1557110183	p.Ser129Asn	missense variant	-	NC_000023.11:g.54022274C>T	gnomAD
rs782064595	p.Arg130Trp	missense variant	-	NC_000023.11:g.54022272T>A	1000Genomes
rs782020804	p.Thr131Ile	missense variant	-	NC_000023.11:g.54022268G>A	ExAC,gnomAD
COSM3562458	p.Asp133Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54022263C>A	NCI-TCGA Cosmic
rs782557597	p.Asp136Glu	missense variant	-	NC_000023.11:g.54017815A>C	ExAC
COSM1123281	p.Asn145His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54017790T>G	NCI-TCGA Cosmic
rs1557108691	p.Thr148Ser	missense variant	-	NC_000023.11:g.54017780G>C	gnomAD
rs1557108684	p.Val149Met	missense variant	-	NC_000023.11:g.54017778C>T	gnomAD
NCI-TCGA novel	p.Val149Met	missense variant	-	chrX:g.54017778C>T	NCI-TCGA
rs1557108680	p.Val159Met	missense variant	-	NC_000023.11:g.54017748C>T	gnomAD
RCV000414958	p.Leu162Ter	frameshift	Siderius X-linked mental retardation syndrome (MRXSSD)	NC_000023.11:g.54017738del	ClinVar
rs1557108660	p.Leu164Pro	missense variant	-	NC_000023.11:g.54017732A>G	gnomAD
rs1557108645	p.Gly170Cys	missense variant	-	NC_000023.11:g.54017715C>A	gnomAD
NCI-TCGA novel	p.Met171Leu	missense variant	-	chrX:g.54017712T>A	NCI-TCGA
rs782170063	p.Thr172Met	missense variant	-	NC_000023.11:g.54017708G>A	ExAC,gnomAD
COSM4929031	p.Leu173Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54017705A>C	NCI-TCGA Cosmic
rs1557108625	p.Ser175Leu	missense variant	-	NC_000023.11:g.54017699G>A	gnomAD
COSM1123280	p.Thr179Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54017687G>A	NCI-TCGA Cosmic
COSM1138178	p.Thr179Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54017687G>T	NCI-TCGA Cosmic
rs376531117	p.His185Gln	missense variant	-	NC_000023.11:g.54017668G>T	ESP,TOPMed
COSM4110255	p.His185Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54017670G>A	NCI-TCGA Cosmic
rs1557108604	p.His185Arg	missense variant	-	NC_000023.11:g.54017669T>C	gnomAD
rs1283349759	p.Tyr186His	missense variant	-	NC_000023.11:g.54017667A>G	TOPMed
COSM3845089	p.Glu192Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54016725C>G	NCI-TCGA Cosmic
COSM4110251	p.Arg200His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54016700C>T	NCI-TCGA Cosmic
rs1333636508	p.Arg200His	missense variant	-	NC_000023.11:g.54016700C>T	TOPMed,gnomAD
RCV000011546	p.Lys213Ter	nonsense	Siderius X-linked mental retardation syndrome (MRXSSD)	NC_000023.11:g.54016662T>A	ClinVar
rs121918523	p.Lys213Ter	stop gained	Siderius x-linked mental retardation syndrome (mrxssd)	NC_000023.11:g.54016662T>A	-
NCI-TCGA novel	p.Tyr216His	missense variant	-	chrX:g.54016653A>G	NCI-TCGA
rs1282895940	p.Tyr216His	missense variant	-	NC_000023.11:g.54016653A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ser217Arg	missense variant	-	chrX:g.54016650T>G	NCI-TCGA
rs1234249711	p.Gly218Arg	missense variant	-	NC_000023.11:g.54016647C>T	TOPMed,gnomAD
rs781983583	p.Arg220Lys	missense variant	-	NC_000023.11:g.54016640C>T	ExAC,gnomAD
rs1557108272	p.Glu221Gln	missense variant	-	NC_000023.11:g.54016638C>G	gnomAD
NCI-TCGA novel	p.Glu221Asp	missense variant	-	chrX:g.54016636C>A	NCI-TCGA
rs782395569	p.Val223Leu	missense variant	-	NC_000023.11:g.54016632C>G	ExAC,TOPMed,gnomAD
rs782395569	p.Val223Ile	missense variant	-	NC_000023.11:g.54016632C>T	ExAC,TOPMed,gnomAD
rs782279926	p.Ile227Val	missense variant	-	NC_000023.11:g.54016620T>C	ExAC,gnomAD
rs1557107506	p.Val240Met	missense variant	-	NC_000023.11:g.54014550C>T	gnomAD
COSM294700	p.Pro243Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54014540G>A	NCI-TCGA Cosmic
rs121918522	p.Arg247Ter	stop gained	Siderius x-linked mental retardation syndrome (mrxssd)	NC_000023.11:g.54014529G>A	-
RCV000011545	p.Arg247Ter	nonsense	Siderius X-linked mental retardation syndrome (MRXSSD)	NC_000023.11:g.54014529G>A	ClinVar
COSM257721	p.Arg247Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54014528C>T	NCI-TCGA Cosmic
rs121918522	p.Arg247Ter	stop gained	-	chrX:g.54014529G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000718488	p.Lys248Arg	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.54014525T>C	ClinVar
rs1232258803	p.Lys248Arg	missense variant	-	NC_000023.11:g.54014525T>C	TOPMed,gnomAD
rs782241612	p.Trp251Leu	missense variant	-	NC_000023.11:g.54014516C>A	ExAC
NCI-TCGA novel	p.Asn254Ser	missense variant	-	chrX:g.54014507T>C	NCI-TCGA
COSM6187837	p.Glu258Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54014496C>G	NCI-TCGA Cosmic
rs1557107478	p.Glu258Gly	missense variant	-	NC_000023.11:g.54014495T>C	gnomAD
COSM4850814	p.Glu259Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54014493C>T	NCI-TCGA Cosmic
rs1557107466	p.Asn266Ser	missense variant	-	NC_000023.11:g.54014471T>C	gnomAD
rs377084478	p.Val267Ile	missense variant	-	NC_000023.11:g.54014469C>T	ESP,ExAC,TOPMed,gnomAD
rs377084478	p.Val267Ile	missense variant	-	chrX:g.54014469C>T	NCI-TCGA
rs782444247	p.Val275Met	missense variant	-	NC_000023.11:g.54014445C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg276Ter	stop gained	-	chrX:g.54014442G>A	NCI-TCGA
rs1557107443	p.Thr280Ala	missense variant	-	NC_000023.11:g.54014430T>C	gnomAD
NCI-TCGA novel	p.Gly298Ser	missense variant	-	chrX:g.54011284C>T	NCI-TCGA
rs1469862896	p.Phe302Ile	missense variant	-	NC_000023.11:g.54011272A>T	TOPMed
COSM3562450	p.Ile305Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54011262A>G	NCI-TCGA Cosmic
COSM1123277	p.Arg306His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54011259C>T	NCI-TCGA Cosmic
rs782033442	p.Arg306Cys	missense variant	-	chrX:g.54011260G>A	NCI-TCGA
rs782033442	p.Arg306Cys	missense variant	-	NC_000023.11:g.54011260G>A	ExAC,gnomAD
rs1557106685	p.Asn309Asp	missense variant	-	NC_000023.11:g.54011251T>C	gnomAD
NCI-TCGA novel	p.Leu314Val	missense variant	-	chrX:g.54011236G>C	NCI-TCGA
rs121918524	p.Phe315Ser	missense variant	Mental retardation, X-linked, syndromic, Siderius type (MRXSSD)	NC_000023.11:g.54011232A>G	UniProt,dbSNP
VAR_062250	p.Phe315Ser	missense variant	Mental retardation, X-linked, syndromic, Siderius type (MRXSSD)	NC_000023.11:g.54011232A>G	UniProt
rs121918524	p.Phe315Ser	missense variant	Siderius x-linked mental retardation syndrome (mrxssd)	NC_000023.11:g.54011232A>G	-
RCV000011547	p.Phe315Ser	missense variant	Siderius X-linked mental retardation syndrome (MRXSSD)	NC_000023.11:g.54011232A>G	ClinVar
rs1557106677	p.Ser322Tyr	missense variant	-	NC_000023.11:g.54011211G>T	gnomAD
rs1385836906	p.Met327Ile	missense variant	-	NC_000023.11:g.54011195C>G	TOPMed
rs1157683205	p.Met327Thr	missense variant	-	NC_000023.11:g.54011196A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Phe328Leu	missense variant	-	chrX:g.54011192G>T	NCI-TCGA
rs1458715289	p.Gln332Arg	missense variant	-	NC_000023.11:g.54011181T>C	TOPMed
rs1318945224	p.Lys338Arg	missense variant	-	NC_000023.11:g.54011163T>C	TOPMed,gnomAD
rs1330282075	p.Ser340Cys	missense variant	-	NC_000023.11:g.54011157G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Lys342Met	missense variant	-	chrX:g.54011151T>A	NCI-TCGA
NCI-TCGA novel	p.Lys342AsnPheSerTerUnkUnk	frameshift	-	chrX:g.54011150C>-	NCI-TCGA
COSM4110243	p.Ile349Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54011130A>G	NCI-TCGA Cosmic
COSM1123276	p.Pro350His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54011127G>T	NCI-TCGA Cosmic
rs1273296079	p.Thr351Ile	missense variant	-	NC_000023.11:g.54011124G>A	TOPMed
NCI-TCGA novel	p.His355Tyr	missense variant	-	chrX:g.54002674G>A	NCI-TCGA
rs1557104449	p.Pro360Ser	missense variant	-	NC_000023.11:g.54002659G>A	gnomAD
COSM1472216	p.Phe366Val	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54002641A>C	NCI-TCGA Cosmic
COSM1123275	p.Gln379His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54002600C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser390Asn	missense variant	-	chrX:g.54002235C>T	NCI-TCGA
rs1557104376	p.Asn399Ser	missense variant	-	NC_000023.11:g.54002208T>C	gnomAD
NCI-TCGA novel	p.Glu401Gln	missense variant	-	chrX:g.54002203C>G	NCI-TCGA
COSM294699	p.Leu412Met	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54002170G>T	NCI-TCGA Cosmic
rs1557104367	p.Asp413Glu	missense variant	-	NC_000023.11:g.54002165G>C	gnomAD
COSM4110239	p.Arg416Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54002158G>A	NCI-TCGA Cosmic
COSM1491108	p.Gly417Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54002155C>T	NCI-TCGA Cosmic
COSM1123273	p.Gly417Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54002155C>G	NCI-TCGA Cosmic
COSM1491105	p.Arg419Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53999955C>T	NCI-TCGA Cosmic
rs781838152	p.Glu420Lys	missense variant	-	NC_000023.11:g.53999953C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu420Asp	missense variant	-	chrX:g.53999951C>A	NCI-TCGA
NCI-TCGA novel	p.Arg423Lys	missense variant	-	chrX:g.53999943C>T	NCI-TCGA
rs1557103837	p.Tyr428Phe	missense variant	-	NC_000023.11:g.53999928T>A	gnomAD
rs1424280192	p.His431Arg	missense variant	-	NC_000023.11:g.53999919T>C	TOPMed
rs782129608	p.Arg441Lys	missense variant	-	NC_000023.11:g.53999889C>T	ExAC,TOPMed,gnomAD
COSM4110235	p.Ala442Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53999887C>A	NCI-TCGA Cosmic
rs782018713	p.Arg445Met	missense variant	-	NC_000023.11:g.53999877C>A	ExAC,gnomAD
rs1557102680	p.Ala448Thr	missense variant	-	NC_000023.11:g.53995782C>T	gnomAD
rs1557102675	p.Ala448Val	missense variant	-	NC_000023.11:g.53995781G>A	gnomAD
rs1277147445	p.Pro450Ser	missense variant	-	NC_000023.11:g.53995776G>A	TOPMed
NCI-TCGA novel	p.Asp451Tyr	missense variant	-	chrX:g.53995773C>A	NCI-TCGA
NCI-TCGA novel	p.Asp451Glu	missense variant	-	chrX:g.53995771G>T	NCI-TCGA
COSM1151672	p.His452Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53995770G>A	NCI-TCGA Cosmic
COSM4826261	p.Glu453Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53995767C>T	NCI-TCGA Cosmic
COSM4832149	p.Glu455Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53995761C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro457Leu	missense variant	-	chrX:g.53995754G>A	NCI-TCGA
rs782618134	p.Arg461Gln	missense variant	-	chrX:g.53995742C>T	NCI-TCGA
rs782618134	p.Arg461Gln	missense variant	-	NC_000023.11:g.53995742C>T	ExAC,gnomAD
rs1557102640	p.Val463Ile	missense variant	-	NC_000023.11:g.53995737C>T	gnomAD
COSM1155424	p.Val463Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53995737C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg471Lys	missense variant	-	chrX:g.53995712C>T	NCI-TCGA
rs781871345	p.Arg474His	missense variant	-	NC_000023.11:g.53995703C>T	ExAC,TOPMed,gnomAD
rs1418872192	p.Phe480Val	missense variant	-	NC_000023.11:g.53993897A>C	TOPMed
rs1557102151	p.Val484Ile	missense variant	-	NC_000023.11:g.53993885C>T	gnomAD
NCI-TCGA novel	p.Val484Ile	missense variant	-	chrX:g.53993885C>T	NCI-TCGA
NCI-TCGA novel	p.Val484Asp	missense variant	-	chrX:g.53993884A>T	NCI-TCGA
RCV000481966	p.Val484Ala	missense variant	-	NC_000023.11:g.53993884A>G	ClinVar
rs1064796692	p.Val484Ala	missense variant	-	NC_000023.11:g.53993884A>G	gnomAD
rs1408762293	p.Gly485Glu	missense variant	-	NC_000023.11:g.53993881C>T	TOPMed
rs933827080	p.Thr487Met	missense variant	-	NC_000023.11:g.53993875G>A	TOPMed,gnomAD
COSM3786753	p.Thr487Met	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53993875G>A	NCI-TCGA Cosmic
rs1355515772	p.Asn489Ser	missense variant	-	NC_000023.11:g.53993869T>C	TOPMed,gnomAD
rs782563657	p.Phe491Val	missense variant	-	NC_000023.11:g.53993864A>C	ExAC,gnomAD
rs782471251	p.Phe491Ser	missense variant	-	NC_000023.11:g.53993863A>G	ExAC,TOPMed,gnomAD
rs782396701	p.Ile496Asn	missense variant	-	NC_000023.11:g.53993848A>T	ExAC
rs138652719	p.Pro498Ser	missense variant	-	NC_000023.11:g.53993843G>A	ESP,ExAC,TOPMed,gnomAD
rs138652719	p.Pro498Ala	missense variant	-	NC_000023.11:g.53993843G>C	ESP,ExAC,TOPMed,gnomAD
rs1557102090	p.Gly500Asp	missense variant	-	NC_000023.11:g.53993836C>T	gnomAD
rs1557102092	p.Gly500Ser	missense variant	-	NC_000023.11:g.53993837C>T	gnomAD
rs1557102080	p.Pro503Ser	missense variant	-	NC_000023.11:g.53993828G>A	gnomAD
rs782041523	p.Leu504Pro	missense variant	-	NC_000023.11:g.53993824A>G	ExAC,TOPMed,gnomAD
rs782806150	p.Leu504Val	missense variant	-	NC_000023.11:g.53993825G>C	ExAC,gnomAD
rs782718299	p.Arg506Gly	missense variant	-	NC_000023.11:g.53993819T>C	ExAC,gnomAD
rs782095574	p.Pro507Thr	missense variant	-	NC_000023.11:g.53993816G>T	ExAC,gnomAD
rs782095574	p.Pro507Ala	missense variant	-	NC_000023.11:g.53993816G>C	ExAC,gnomAD
rs781836614	p.Met515Val	missense variant	-	NC_000023.11:g.53993792T>C	1000Genomes
rs976611025	p.Ser519Leu	missense variant	-	NC_000023.11:g.53993779G>A	gnomAD
rs782552233	p.Pro521His	missense variant	-	NC_000023.11:g.53993773G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser522Phe	missense variant	-	chrX:g.53993770G>A	NCI-TCGA
rs782152137	p.Lys523Arg	missense variant	-	NC_000023.11:g.53993767T>C	ExAC,gnomAD
COSM6119499	p.Gly525Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53993762C>T	NCI-TCGA Cosmic
rs782313651	p.Lys528Glu	missense variant	-	NC_000023.11:g.53993753T>C	ExAC,gnomAD
rs782194855	p.Lys529Asn	missense variant	-	NC_000023.11:g.53993748T>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly530Asp	missense variant	-	chrX:g.53993746C>T	NCI-TCGA
rs1557102044	p.Pro533Ser	missense variant	-	NC_000023.11:g.53993738G>A	gnomAD
rs1557102040	p.Glu535Gly	missense variant	-	NC_000023.11:g.53993731T>C	gnomAD
NCI-TCGA novel	p.Ala540Pro	missense variant	-	chrX:g.53993717C>G	NCI-TCGA
rs1557102037	p.Glu541Lys	missense variant	-	NC_000023.11:g.53993714C>T	gnomAD
rs1311403191	p.Arg542Ter	stop gained	-	NC_000023.11:g.53993711G>A	TOPMed
rs183611806	p.Arg542Gln	missense variant	-	NC_000023.11:g.53993710C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg542Leu	missense variant	-	chrX:g.53993710C>A	NCI-TCGA
rs183611806	p.Arg542Gln	missense variant	-	chrX:g.53993710C>T	NCI-TCGA,NCI-TCGA Cosmic
rs782250508	p.Lys543Asn	missense variant	-	NC_000023.11:g.53993706C>A	ExAC,gnomAD
rs1557102022	p.Gly544Asp	missense variant	-	NC_000023.11:g.53993704C>T	gnomAD
rs1557102015	p.Ala549Asp	missense variant	-	NC_000023.11:g.53993689G>T	gnomAD
COSM1491102	p.Ala549Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53993690C>T	NCI-TCGA Cosmic
rs782657617	p.Gly551Arg	missense variant	-	NC_000023.11:g.53993684C>T	ExAC,gnomAD
rs782547411	p.Gln555Arg	missense variant	-	NC_000023.11:g.53993671T>C	ExAC,gnomAD
rs1557102004	p.Tyr558Cys	missense variant	-	NC_000023.11:g.53993662T>C	gnomAD
rs781784469	p.Met561Val	missense variant	-	NC_000023.11:g.53993654T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp562Gly	missense variant	-	chrX:g.53993650T>C	NCI-TCGA
rs1557101996	p.Thr563Ile	missense variant	-	NC_000023.11:g.53993647G>A	gnomAD
rs1557101992	p.Ser565Arg	missense variant	-	NC_000023.11:g.53993640A>C	gnomAD
RCV000117908	p.Ser565Asn	missense variant	-	NC_000023.11:g.53993641C>T	ClinVar
rs587780415	p.Ser565Asn	missense variant	-	NC_000023.11:g.53993641C>T	-
NCI-TCGA novel	p.Gln567Ter	stop gained	-	chrX:g.53993636G>A	NCI-TCGA
COSM4110228	p.Gly572Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53993620C>G	NCI-TCGA Cosmic
rs1557101979	p.Phe574Ser	missense variant	-	NC_000023.11:g.53993614A>G	gnomAD
rs1557101975	p.Gln575Ter	stop gained	-	NC_000023.11:g.53993612G>A	gnomAD
rs782108278	p.Asn580Ser	missense variant	-	NC_000023.11:g.53992835T>C	TOPMed
rs1557101765	p.Thr582Ala	missense variant	-	NC_000023.11:g.53992830T>C	gnomAD
rs1557101760	p.Thr582Ile	missense variant	-	NC_000023.11:g.53992829G>A	gnomAD
rs1403027931	p.Gly583Ser	missense variant	-	NC_000023.11:g.53992827C>T	TOPMed,gnomAD
rs781913201	p.Asn587Ser	missense variant	-	NC_000023.11:g.53992814T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp588Tyr	missense variant	-	chrX:g.53992812C>A	NCI-TCGA
rs1381659844	p.Asp588Asn	missense variant	-	NC_000023.11:g.53992812C>T	TOPMed
COSM1123272	p.Asp590Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53992806C>A	NCI-TCGA Cosmic
COSM4110224	p.Asp590Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53992806C>T	NCI-TCGA Cosmic
rs141809675	p.Asp592Asn	missense variant	-	NC_000023.11:g.53992800C>T	ESP,ExAC,TOPMed,gnomAD
COSM1468631	p.Asp592Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53992800C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro594Leu	missense variant	-	chrX:g.53992793G>A	NCI-TCGA
rs782614873	p.Asp595Asn	missense variant	-	NC_000023.11:g.53992791C>T	ExAC,TOPMed,gnomAD
rs1557101745	p.Asp597Asn	missense variant	-	NC_000023.11:g.53992785C>T	gnomAD
rs782492754	p.Glu602Gly	missense variant	-	NC_000023.11:g.53992769T>C	ExAC,gnomAD
rs376393889	p.Pro604Ala	missense variant	-	NC_000023.11:g.53992764G>C	ESP,ExAC,TOPMed,gnomAD
rs376393889	p.Pro604Ser	missense variant	-	NC_000023.11:g.53992764G>A	ESP,ExAC,TOPMed,gnomAD
rs1557101725	p.Ala606Ser	missense variant	-	NC_000023.11:g.53992758C>A	gnomAD
rs781792100	p.Met609Leu	missense variant	-	NC_000023.11:g.53992749T>A	ExAC
RCV000512924	p.Gly612Ser	missense variant	-	NC_000023.11:g.53992740C>T	ClinVar
rs782502760	p.Gly612Ser	missense variant	-	NC_000023.11:g.53992740C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs373224451	p.Thr614Met	missense variant	-	NC_000023.11:g.53987942G>A	ESP,ExAC,gnomAD
rs373224451	p.Thr614Met	missense variant	-	chrX:g.53987942G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM115817	p.Thr614Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53987943T>C	NCI-TCGA Cosmic
COSM3562435	p.Arg616Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53987936C>G	NCI-TCGA Cosmic
rs781851454	p.Val617Leu	missense variant	-	NC_000023.11:g.53987934C>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu620Val	missense variant	-	chrX:g.53987925A>C	NCI-TCGA
rs1557100198	p.Lys622Arg	missense variant	-	NC_000023.11:g.53987918T>C	gnomAD
rs1371545200	p.Lys622Asn	missense variant	-	NC_000023.11:g.53987917T>A	TOPMed
rs782148797	p.Arg624Trp	missense variant	-	NC_000023.11:g.53987913G>A	ExAC,gnomAD
rs782032908	p.Arg624Gln	missense variant	-	NC_000023.11:g.53987912C>T	ExAC,gnomAD
rs781834757	p.Arg625Gln	missense variant	-	NC_000023.11:g.53987909C>T	ExAC,TOPMed,gnomAD
rs1284590610	p.Thr626Ser	missense variant	-	NC_000023.11:g.53987906G>C	TOPMed
rs1557100178	p.Lys627Asn	missense variant	-	NC_000023.11:g.53987902C>A	gnomAD
rs1557100172	p.Lys630Glu	missense variant	-	NC_000023.11:g.53987895T>C	gnomAD
rs1358275323	p.Val632Leu	missense variant	-	NC_000023.11:g.53987889C>A	TOPMed
NCI-TCGA novel	p.Asp633Gly	missense variant	-	chrX:g.53987885T>C	NCI-TCGA
rs1557100152	p.Arg636Lys	missense variant	-	NC_000023.11:g.53987876C>T	gnomAD
rs782363065	p.Leu637Val	missense variant	-	NC_000023.11:g.53987874G>C	ExAC,TOPMed,gnomAD
rs1180918252	p.Met638Val	missense variant	-	NC_000023.11:g.53987871T>C	TOPMed,gnomAD
rs1557100129	p.Asp645Gly	missense variant	-	NC_000023.11:g.53987849T>C	gnomAD
rs782656960	p.Glu646Lys	missense variant	-	NC_000023.11:g.53987847C>T	ExAC,gnomAD
rs782656960	p.Glu646Lys	missense variant	-	chrX:g.53987847C>T	NCI-TCGA,NCI-TCGA Cosmic
rs782411309	p.Asp648His	missense variant	-	NC_000023.11:g.53987841C>G	ExAC,TOPMed,gnomAD
rs782411309	p.Asp648His	missense variant	-	chrX:g.53987841C>G	NCI-TCGA,NCI-TCGA Cosmic
rs1557100101	p.Glu654Asp	missense variant	-	NC_000023.11:g.53987821C>G	gnomAD
rs1177569968	p.Leu655Pro	missense variant	-	NC_000023.11:g.53987819A>G	TOPMed
rs782587670	p.Ile657Leu	missense variant	-	NC_000023.11:g.53987814T>G	ExAC,TOPMed,gnomAD
rs782587670	p.Ile657Val	missense variant	-	NC_000023.11:g.53987814T>C	ExAC,TOPMed,gnomAD
rs781833925	p.Glu659Lys	missense variant	-	NC_000023.11:g.53987808C>T	ExAC,gnomAD
rs1367487679	p.Arg660Thr	missense variant	-	NC_000023.11:g.53987804C>G	TOPMed
COSM4110216	p.Ala666Val	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53987786G>A	NCI-TCGA Cosmic
rs1328702589	p.Leu668Met	missense variant	-	NC_000023.11:g.53987781G>T	TOPMed
COSM1123271	p.Ile669Val	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53987778T>C	NCI-TCGA Cosmic
rs1557100066	p.Ile669Met	missense variant	-	NC_000023.11:g.53987776T>C	gnomAD
rs782620271	p.Ile670Arg	missense variant	-	NC_000023.11:g.53987774A>C	ExAC
rs1353255685	p.Arg671Thr	missense variant	-	NC_000023.11:g.53987771C>G	TOPMed
rs1418916376	p.Pro675Ser	missense variant	-	NC_000023.11:g.53987158G>A	TOPMed,gnomAD
rs782204549	p.Arg676Trp	missense variant	-	chrX:g.53987155G>A	NCI-TCGA,NCI-TCGA Cosmic
rs782204549	p.Arg676Trp	missense variant	-	NC_000023.11:g.53987155G>A	ExAC,gnomAD
rs782604120	p.Arg676Gln	missense variant	-	NC_000023.11:g.53987154C>T	ExAC,gnomAD
rs782374199	p.Ala681Val	missense variant	-	NC_000023.11:g.53987139G>A	ExAC,gnomAD
rs1557099782	p.Cys684Phe	missense variant	-	NC_000023.11:g.53987130C>A	gnomAD
rs1557099780	p.Pro687Thr	missense variant	-	NC_000023.11:g.53987122G>T	gnomAD
rs1439895633	p.Asn688Thr	missense variant	-	NC_000023.11:g.53987118T>G	TOPMed
rs1557099776	p.Asn688Tyr	missense variant	-	NC_000023.11:g.53987119T>A	gnomAD
NCI-TCGA novel	p.Arg689Gln	missense variant	-	chrX:g.53987115C>T	NCI-TCGA
NCI-TCGA novel	p.Arg691Cys	missense variant	-	chrX:g.53987110G>A	NCI-TCGA
rs781998944	p.Tyr704Cys	missense variant	-	NC_000023.11:g.53985942T>C	ExAC,gnomAD
rs782287951	p.Met710Val	missense variant	-	NC_000023.11:g.53985925T>C	ExAC,TOPMed,gnomAD
rs781919600	p.Lys717Asn	missense variant	-	NC_000023.11:g.53985902C>A	ExAC,TOPMed,gnomAD
rs1267260068	p.Asn720Tyr	missense variant	-	NC_000023.11:g.53985895T>A	TOPMed
rs1557099433	p.Gly721Val	missense variant	-	NC_000023.11:g.53985891C>A	gnomAD
NCI-TCGA novel	p.Gly721Val	missense variant	-	chrX:g.53985891C>A	NCI-TCGA
rs782329330	p.Gly723Ala	missense variant	-	NC_000023.11:g.53985885C>G	ExAC,gnomAD
rs782217443	p.Ala724Ser	missense variant	-	NC_000023.11:g.53985883C>A	ExAC,gnomAD
rs782217443	p.Ala724Thr	missense variant	-	NC_000023.11:g.53985883C>T	ExAC,gnomAD
COSM1648299	p.Ile727Val	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53985874T>C	NCI-TCGA Cosmic
COSM3845079	p.Leu728Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53985871G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp729Gly	missense variant	-	chrX:g.53985867T>C	NCI-TCGA
COSM6119502	p.Leu730Met	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53985865G>T	NCI-TCGA Cosmic
COSM1123269	p.Leu731Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53985862G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly738Ala	missense variant	-	chrX:g.53985840C>G	NCI-TCGA
COSM1468626	p.Gly739AspPheSerTerUnkUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	chrX:g.53985837C>-	NCI-TCGA Cosmic
rs782680617	p.Tyr742Cys	missense variant	-	NC_000023.11:g.53985828T>C	ExAC,TOPMed,gnomAD
rs782680617	p.Tyr742Ser	missense variant	-	NC_000023.11:g.53985828T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala743Ser	missense variant	-	chrX:g.53985826C>A	NCI-TCGA
rs1469268360	p.Ala744Thr	missense variant	-	NC_000023.11:g.53985823C>T	TOPMed
rs1557099407	p.Leu745Phe	missense variant	-	NC_000023.11:g.53985820G>A	gnomAD
rs367984813	p.Thr746Ile	missense variant	-	NC_000023.11:g.53985816G>A	ESP,ExAC,TOPMed,gnomAD
rs781837094	p.Glu747Ala	missense variant	-	NC_000023.11:g.53985225T>G	ExAC,gnomAD
rs41306749	p.Glu747Lys	missense variant	-	chrX:g.53985226C>T	NCI-TCGA
rs41306749	p.Glu747Lys	missense variant	-	NC_000023.11:g.53985226C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000717063	p.Glu747Lys	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.53985226C>T	ClinVar
rs781949615	p.Gln768Leu	missense variant	-	NC_000023.11:g.53985162T>A	1000Genomes,gnomAD
rs1557099179	p.Ser769Ala	missense variant	-	NC_000023.11:g.53985160A>C	gnomAD
rs377130882	p.Ser771Leu	missense variant	-	NC_000023.11:g.53985153G>A	TOPMed
rs377130882	p.Ser771Leu	missense variant	-	chrX:g.53985153G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000175335	p.Ser773Ter	nonsense	-	NC_000023.11:g.53985147G>C	ClinVar
rs797044665	p.Ser773Ter	stop gained	-	NC_000023.11:g.53985147G>C	-
rs781994342	p.Pro774Leu	missense variant	-	NC_000023.11:g.53985144G>A	ExAC,TOPMed,gnomAD
rs782219792	p.Thr776Ala	missense variant	-	NC_000023.11:g.53985139T>C	ExAC,gnomAD
COSM6187845	p.Ser777Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53985135G>C	NCI-TCGA Cosmic
RCV000624543	p.Ser778Ter	frameshift	Inborn genetic diseases	NC_000023.11:g.53985132dup	ClinVar
rs1557099137	p.Thr784Ile	missense variant	-	NC_000023.11:g.53985114G>A	gnomAD
rs1218634086	p.Gly785Arg	missense variant	-	NC_000023.11:g.53985112C>T	TOPMed,gnomAD
RCV000662041	p.Arg789Gln	missense variant	Siderius X-linked mental retardation syndrome (MRXSSD)	NC_000023.11:g.53985099C>T	ClinVar
COSM3562423	p.Arg789Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53985099C>T	NCI-TCGA Cosmic
rs1263803925	p.Arg789Gln	missense variant	-	NC_000023.11:g.53985099C>T	TOPMed
rs782358878	p.Ser794Cys	missense variant	-	NC_000023.11:g.53985084G>C	1000Genomes,ExAC,gnomAD
rs782659079	p.Ser795Thr	missense variant	-	NC_000023.11:g.53985081C>G	ExAC,gnomAD
rs782530078	p.Leu798Met	missense variant	-	NC_000023.11:g.53985073G>T	ExAC,TOPMed,gnomAD
rs368382160	p.Thr800Lys	missense variant	-	NC_000023.11:g.53985066G>T	ESP,ExAC,TOPMed,gnomAD
rs781852949	p.Thr800Ala	missense variant	-	NC_000023.11:g.53985067T>C	ExAC,TOPMed,gnomAD
rs781852949	p.Thr800Pro	missense variant	-	NC_000023.11:g.53985067T>G	ExAC,TOPMed,gnomAD
rs199974926	p.Asn803Asp	missense variant	-	NC_000023.11:g.53985058T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1557099111	p.Pro805Leu	missense variant	-	NC_000023.11:g.53985051G>A	gnomAD
COSM4942268	p.Pro805Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53985051G>A	NCI-TCGA Cosmic
rs371107125	p.Arg809His	missense variant	-	NC_000023.11:g.53985039C>T	ESP,ExAC,TOPMed,gnomAD
rs782160964	p.Arg809Ser	missense variant	-	NC_000023.11:g.53985040G>T	ExAC,TOPMed,gnomAD
rs782160964	p.Arg809Cys	missense variant	-	NC_000023.11:g.53985040G>A	ExAC,TOPMed,gnomAD
rs371107125	p.Arg809His	missense variant	-	chrX:g.53985039C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1557099098	p.Pro811Thr	missense variant	-	NC_000023.11:g.53985034G>T	gnomAD
rs1050459941	p.Arg814Trp	missense variant	-	NC_000023.11:g.53985025G>A	gnomAD
rs782762274	p.Arg814Gln	missense variant	-	NC_000023.11:g.53985024C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg814Trp	missense variant	-	chrX:g.53985025G>A	NCI-TCGA
rs1557099079	p.Pro815Leu	missense variant	-	NC_000023.11:g.53985021G>A	gnomAD
RCV000503828	p.Arg818Gln	missense variant	-	NC_000023.11:g.53985012C>T	ClinVar
rs782358977	p.Arg818Gln	missense variant	-	chrX:g.53985012C>T	NCI-TCGA
rs782358977	p.Arg818Gln	missense variant	-	NC_000023.11:g.53985012C>T	ExAC
rs1557099077	p.Arg818Trp	missense variant	-	NC_000023.11:g.53985013G>A	gnomAD
rs782330912	p.Pro819Gln	missense variant	-	NC_000023.11:g.53985009G>T	ExAC,gnomAD
rs782330912	p.Pro819Leu	missense variant	-	NC_000023.11:g.53985009G>A	ExAC,gnomAD
COSM72167	p.Trp822Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53984999C>G	NCI-TCGA Cosmic
rs1557099064	p.Thr824Ser	missense variant	-	NC_000023.11:g.53984994G>C	gnomAD
rs782056855	p.Glu825Lys	missense variant	-	chrX:g.53984992C>T	NCI-TCGA,NCI-TCGA Cosmic
rs782056855	p.Glu825Lys	missense variant	-	NC_000023.11:g.53984992C>T	ExAC,gnomAD
rs143505141	p.Ser826Gly	missense variant	-	NC_000023.11:g.53984989T>C	ESP,ExAC,TOPMed,gnomAD
rs377571096	p.Asn832Lys	missense variant	-	NC_000023.11:g.53984969G>T	ESP,ExAC,gnomAD
rs201268268	p.Ala833Thr	missense variant	-	NC_000023.11:g.53984968C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs782352408	p.Ser834Ile	missense variant	-	NC_000023.11:g.53984964C>A	ExAC,TOPMed,gnomAD
rs1557099025	p.Leu835Met	missense variant	-	NC_000023.11:g.53984962G>T	gnomAD
RCV000717202	p.Gln838Pro	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.53984952T>G	ClinVar
rs1557091326	p.Asp859Glu	missense variant	-	NC_000023.11:g.53962914A>C	gnomAD
rs782172985	p.Asp859Gly	missense variant	-	NC_000023.11:g.53962915T>C	ExAC,gnomAD
rs1460758361	p.Pro862Ser	missense variant	-	NC_000023.11:g.53962907G>A	TOPMed
NCI-TCGA novel	p.Arg867Gln	missense variant	-	chrX:g.53962891C>T	NCI-TCGA
NCI-TCGA novel	p.Lys869Asn	missense variant	-	chrX:g.53962884C>A	NCI-TCGA
rs1291616984	p.Lys872Asn	missense variant	-	NC_000023.11:g.53962875C>A	TOPMed
rs1369444518	p.Ser874Thr	missense variant	-	NC_000023.11:g.53962871A>T	TOPMed
rs1557091300	p.Ala877Thr	missense variant	-	NC_000023.11:g.53962862C>T	gnomAD
COSM1331785	p.Pro878Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53962859G>T	NCI-TCGA Cosmic
rs189840768	p.Trp879Ter	stop gained	-	NC_000023.11:g.53962855C>T	1000Genomes,ExAC,gnomAD
rs1349963916	p.Ser880Cys	missense variant	-	NC_000023.11:g.53962853T>A	TOPMed
rs1557084451	p.Arg884Gly	missense variant	-	NC_000023.11:g.53944241G>C	gnomAD
rs1557084439	p.Thr886Ile	missense variant	-	NC_000023.11:g.53944234G>A	gnomAD
rs781843717	p.Pro890Leu	missense variant	-	chrX:g.53944222G>A	NCI-TCGA
rs781843717	p.Pro890Leu	missense variant	-	NC_000023.11:g.53944222G>A	ExAC,TOPMed,gnomAD
rs1557084429	p.Arg894Cys	missense variant	-	NC_000023.11:g.53944211G>A	-
NCI-TCGA novel	p.Arg894Cys	missense variant	-	chrX:g.53944211G>A	NCI-TCGA
RCV000497404	p.Arg894Cys	missense variant	-	NC_000023.11:g.53944211G>A	ClinVar
rs200978006	p.Val896Met	missense variant	-	NC_000023.11:g.53944205C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg897His	missense variant	-	chrX:g.53944201C>T	NCI-TCGA
COSM1123265	p.Arg901Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53944190G>A	NCI-TCGA Cosmic
rs781914925	p.Val902Leu	missense variant	-	NC_000023.11:g.53944187C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser904Tyr	missense variant	-	chrX:g.53944180G>T	NCI-TCGA
rs782139128	p.Ala911Val	missense variant	-	NC_000023.11:g.53944159G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala914Thr	missense variant	-	chrX:g.53944151C>T	NCI-TCGA
NCI-TCGA novel	p.Glu920Gly	missense variant	-	chrX:g.53940515T>C	NCI-TCGA
rs1359846876	p.Leu921Val	missense variant	-	NC_000023.11:g.53940513G>C	TOPMed
NCI-TCGA novel	p.Gln922His	missense variant	-	chrX:g.53940508C>A	NCI-TCGA
rs1557083191	p.Tyr929Cys	missense variant	-	NC_000023.11:g.53940488T>C	gnomAD
rs782040295	p.Ile930Val	missense variant	-	NC_000023.11:g.53940486T>C	ExAC,TOPMed,gnomAD
rs782366570	p.Glu938Gly	missense variant	-	NC_000023.11:g.53940461T>C	1000Genomes,ExAC,gnomAD
rs782610068	p.Glu938Lys	missense variant	-	NC_000023.11:g.53940462C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1221408845	p.Val939Leu	missense variant	-	NC_000023.11:g.53940459C>A	TOPMed
rs1261531389	p.Pro942Ser	missense variant	-	NC_000023.11:g.53940450G>A	TOPMed
rs142630105	p.Arg943Leu	missense variant	-	NC_000023.11:g.53940446C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000718055	p.Arg943His	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.53940446C>T	ClinVar
rs142630105	p.Arg943His	missense variant	-	NC_000023.11:g.53940446C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000193434	p.Arg943His	missense variant	-	NC_000023.11:g.53940446C>T	ClinVar
NCI-TCGA novel	p.Asp946Tyr	missense variant	-	chrX:g.53940438C>A	NCI-TCGA
COSM3845076	p.Asp946Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53940438C>T	NCI-TCGA Cosmic
rs1557083166	p.Leu949Pro	missense variant	-	NC_000023.11:g.53940428A>G	gnomAD
NCI-TCGA novel	p.Leu951Val	missense variant	-	chrX:g.53940423G>C	NCI-TCGA
COSM1491098	p.Thr952Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53940420T>A	NCI-TCGA Cosmic
rs1210929361	p.Ala955Val	missense variant	-	NC_000023.11:g.53940410G>A	TOPMed
rs782215609	p.Thr957Ala	missense variant	-	NC_000023.11:g.53940405T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr957Pro	missense variant	-	chrX:g.53940405T>G	NCI-TCGA
rs1188772356	p.Val958Met	missense variant	-	NC_000023.11:g.53940402C>T	TOPMed
rs1557083120	p.Thr966Ile	missense variant	-	NC_000023.11:g.53940377G>A	gnomAD
NCI-TCGA novel	p.Ser968Phe	missense variant	-	chrX:g.53940371G>A	NCI-TCGA
VAR_076254	p.Ser969del	inframe_deletion	-	-	UniProt
COSM3562420	p.Pro970Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53940365G>A	NCI-TCGA Cosmic
rs1430987347	p.Pro974Ser	missense variant	-	NC_000023.11:g.53940354G>A	TOPMed
rs1414664364	p.Glu975Gln	missense variant	-	NC_000023.11:g.53940351C>G	TOPMed,gnomAD
rs782294878	p.Ala980Val	missense variant	-	NC_000023.11:g.53940335G>A	ExAC,gnomAD
rs782663410	p.Leu981Pro	missense variant	-	NC_000023.11:g.53940332A>G	ExAC,gnomAD
rs1157813317	p.Ser982Leu	missense variant	-	NC_000023.11:g.53940329G>A	TOPMed
rs1342892989	p.Leu985Phe	missense variant	-	NC_000023.11:g.53940321G>A	TOPMed
RCV000717669	p.Leu985Phe	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.53940321G>A	ClinVar
COSM1123263	p.Leu985Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53940321G>T	NCI-TCGA Cosmic
rs782507813	p.Ala986Thr	missense variant	-	NC_000023.11:g.53940318C>T	ExAC,gnomAD
rs969542561	p.Thr991Ala	missense variant	-	NC_000023.11:g.53940303T>C	gnomAD
rs1364840429	p.Arg993Cys	missense variant	-	NC_000023.11:g.53940297G>A	TOPMed
rs1557083045	p.Arg993His	missense variant	-	NC_000023.11:g.53940296C>T	gnomAD
rs1557083041	p.Met999Val	missense variant	-	NC_000023.11:g.53940279T>C	gnomAD
rs1557083035	p.Ala1002Thr	missense variant	-	NC_000023.11:g.53940270C>T	gnomAD
rs782604087	p.Asn1003Lys	missense variant	-	NC_000023.11:g.53940265G>T	ExAC,TOPMed,gnomAD
rs782604087	p.Asn1003Lys	missense variant	-	NC_000023.11:g.53940265G>C	ExAC,TOPMed,gnomAD
rs147389956	p.Asn1003Asp	missense variant	-	NC_000023.11:g.53940267T>C	ESP,TOPMed,gnomAD
rs1557083025	p.Arg1004His	missense variant	-	NC_000023.11:g.53940263C>T	gnomAD
rs1220032301	p.Arg1004Cys	missense variant	-	NC_000023.11:g.53940264G>A	TOPMed,gnomAD
COSM4840027	p.Arg1004Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53940264G>A	NCI-TCGA Cosmic
rs1557083020	p.Thr1006Ile	missense variant	-	NC_000023.11:g.53940257G>A	gnomAD
rs782155225	p.Arg1018Trp	missense variant	-	NC_000023.11:g.53940222G>A	ExAC,TOPMed,gnomAD
rs781873999	p.Arg1018Gln	missense variant	-	chrX:g.53940221C>T	NCI-TCGA
rs781873999	p.Arg1018Gln	missense variant	-	NC_000023.11:g.53940221C>T	ExAC,gnomAD
rs782781295	p.Arg1019His	missense variant	-	NC_000023.11:g.53940218C>T	ExAC,TOPMed,gnomAD
rs1271484888	p.Arg1019Cys	missense variant	-	NC_000023.11:g.53940219G>A	TOPMed,gnomAD
rs1271484888	p.Arg1019Ser	missense variant	-	NC_000023.11:g.53940219G>T	TOPMed,gnomAD
rs782095354	p.Pro1020Leu	missense variant	-	NC_000023.11:g.53940215G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser1021Pro	missense variant	-	chrX:g.53940213A>G	NCI-TCGA
rs1176242486	p.Gly1023Ser	missense variant	-	NC_000023.11:g.53940207C>T	TOPMed
rs1405281149	p.Ser1026Asn	missense variant	-	NC_000023.11:g.53940197C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser1026Arg	missense variant	-	chrX:g.53940196G>T	NCI-TCGA
RCV000522929	p.Ser1026Asn	missense variant	-	NC_000023.11:g.53940197C>T	ClinVar
rs1420385679	p.Asn1027Ser	missense variant	-	NC_000023.11:g.53940194T>C	TOPMed,gnomAD
rs1384546656	p.Gly1030Val	missense variant	-	NC_000023.11:g.53940185C>A	TOPMed
rs1158652040	p.Gly1030Arg	missense variant	-	NC_000023.11:g.53940186C>T	TOPMed
rs781956654	p.Gln1031Glu	missense variant	-	NC_000023.11:g.53940183G>C	ExAC,gnomAD
rs781843080	p.Arg1034Ser	missense variant	-	NC_000023.11:g.53939241G>T	ExAC,gnomAD
rs781843080	p.Arg1034Cys	missense variant	-	NC_000023.11:g.53939241G>A	ExAC,gnomAD
COSM1123262	p.Arg1034Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53939241G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu1039Pro	missense variant	-	chrX:g.53939225A>G	NCI-TCGA
NCI-TCGA novel	p.Ala1040Ser	missense variant	-	chrX:g.53939223C>A	NCI-TCGA
NCI-TCGA novel	p.Gly1047Ser	missense variant	-	chrX:g.53939202C>T	NCI-TCGA
rs1557082682	p.Arg1048His	missense variant	-	NC_000023.11:g.53939198C>T	gnomAD
NCI-TCGA novel	p.Arg1054Ile	missense variant	-	chrX:g.53939180C>A	NCI-TCGA
rs374264923	p.Lys1057Arg	missense variant	-	NC_000023.11:g.53939171T>C	ESP,ExAC,TOPMed,gnomAD
COSM1123261	p.Leu1060Met	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53939163G>T	NCI-TCGA Cosmic

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004352	Autistic Disorder	group	BEFREE;LHGDN
C0004930	Behavior Disorders	group	GWASCAT
C0004936	Mental disorders	group	GWASCAT
C0006826	Malignant Neoplasms	group	BEFREE
C0008924	Cleft upper lip	disease	BEFREE;HPO;LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010417	Cryptorchidism	disease	HPO
C0016202	Flatfoot	phenotype	HPO
C0023012	Language Delay	phenotype	HPO
C0023487	Acute Promyelocytic Leukemia	disease	BEFREE
C0025362	Mental Retardation	disease	BEFREE;HPO
C0026106	Mild Mental Retardation	disease	BEFREE;HPO
C0033958	Psychosis, Brief Reactive	disease	GWASCAT
C0033975	Psychotic Disorders	group	GWASCAT
C0036337	Schizoaffective Disorder	disease	GWASCAT
C0036358	Schizophreniform Disorders	group	GWASCAT
C0158646	Cleft palate with cleft lip	disease	BEFREE
C0233715	Speech impairment	phenotype	HPO
C0241210	Speech Delay	phenotype	HPO
C0241355	Small testicle	phenotype	HPO
C0264133	Acquired flat foot	phenotype	HPO
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0346629	Malignant neoplasm of large intestine	disease	BEFREE
C0376338	Diagnosis, Psychiatric	disease	GWASCAT
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0423109	Upward slant of palpebral fissure	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0426429	Broad nasal tip	phenotype	HPO
C0426870	Large hand	phenotype	HPO
C0431447	Synophrys	disease	HPO
C0432072	Dysmorphic features	disease	BEFREE
C0454555	Hypernasal voice	phenotype	HPO
C0454644	Delayed speech and language development	phenotype	HPO
C0566620	Nasal voice	phenotype	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0684338	heart overload	phenotype	BEFREE
C0685787	Cleft face	disease	BEFREE
C0917816	Mental deficiency	disease	HPO
C1136249	Mental Retardation, X-Linked	disease	BEFREE;LHGDN
C1184919	Thoracic kyphosis	phenotype	HPO
C1306459	Primary malignant neoplasm	group	BEFREE
C1398522	Cleft palate and bilateral cleft lip	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1535926	Neurodevelopmental Disorders	group	BEFREE
C1836047	Long face	phenotype	HPO
C1842060	Prominent supraorbital ridges	phenotype	HPO
C1843367	Poor school performance	phenotype	CLINVAR;HPO
C1846055	Siderius X-linked mental retardation syndrome	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C1855728	Low posterior hairline	phenotype	HPO
C1857679	Sloping forehead	phenotype	HPO
C3150613	Long toe	phenotype	HPO
C3714756	Intellectual Disability	group	BEFREE;GENOMICS_ENGLAND;HPO
C4020876	Dull intelligence	phenotype	HPO
C4046029	Mental Disorders, Severe	group	GWASCAT
C4280636	Hypertrophy of supraorbital ridge	phenotype	HPO
C4280637	Hypertrophy of supraorbital margins	phenotype	HPO
C4280638	Hyperplasia of supraorbital ridge	phenotype	HPO
C4280639	Hyperplasia of supraorbital margins	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003682	chromatin binding	IDA
GO:0005506	iron ion binding	IDA
GO:0005515	protein binding	IPI
GO:0008270	zinc ion binding	IDA
GO:0016706	2-oxoglutarate-dependent dioxygenase activity	IDA
GO:0032452	histone demethylase activity	IDA
GO:0032452	histone demethylase activity	TAS
GO:0032454	histone demethylase activity (H3-K9 specific)	IDA
GO:0035064	methylated histone binding	IDA
GO:0035575	histone demethylase activity (H4-K20 specific)	IDA
GO:0051864	histone demethylase activity (H3-K36 specific)	IDA
GO:0071558	histone demethylase activity (H3-K27 specific)	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000082	G1/S transition of mitotic cell cycle	IMP
GO:0007420	brain development	ISS
GO:0033169	histone H3-K9 demethylation	IDA
GO:0035574	histone H4-K20 demethylation	IDA
GO:0045893	positive regulation of transcription, DNA-templated	IMP
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0045943	positive regulation of transcription by RNA polymerase I	IDA
GO:0055114	oxidation-reduction process	IEA
GO:0061188	negative regulation of chromatin silencing at rDNA	IDA
GO:0070544	histone H3-K36 demethylation	IDA
GO:0071557	histone H3-K27 demethylation	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IC
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0005730	nucleolus	IDA
GO:0031965	nuclear membrane	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1640170	Cell Cycle	TAS
R-HSA-2299718	Condensation of Prophase Chromosomes	TAS
R-HSA-3214842	HDMs demethylate histones	TAS
R-HSA-3247509	Chromatin modifying enzymes	TAS
R-HSA-4839726	Chromatin organization	TAS
R-HSA-68875	Mitotic Prophase	TAS
R-HSA-68886	M Phase	TAS
R-HSA-69278	Cell Cycle, Mitotic	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of PHF8 mRNA	19114083
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of PHF8 mRNA	18648102
C496492	abrine	abrine results in increased expression of PHF8 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of PHF8 mRNA	26690555
D020106	Acrylamide	Acrylamide results in decreased expression of PHF8 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of PHF8 intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of PHF8 intron	30157460
D001280	Atrazine	Atrazine affects the methylation of PHF8 gene	28931070
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PHF8 mRNA	22316170
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased mutagenesis of PHF8 gene	25435355
C026487	benzo(e)pyrene	benzo(e)pyrene results in decreased methylation of PHF8 intron	30157460
C038328	BEP protocol	BEP protocol results in increased expression of PHF8 mRNA	18987330
C006780	bisphenol A	bisphenol A results in decreased methylation of PHF8 promoter	27312807
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PHF8 gene	20938992
D002922	Ciguatoxins	Ciguatoxins affects the expression of PHF8 mRNA	18353800
D002945	Cisplatin	Cisplatin results in decreased expression of PHF8 mRNA	27594783
C000944	dicrotophos	dicrotophos results in increased expression of PHF8 mRNA	28302478
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of PHF8 mRNA	29581250
D004317	Doxorubicin	Doxorubicin results in decreased expression of PHF8 mRNA	29803840
D004958	Estradiol	Estradiol results in decreased expression of PHF8 mRNA	19484750
C024565	ethylene dichloride	ethylene dichloride results in decreased expression of PHF8 mRNA	28189721
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PHF8 gene	20938992
C008261	lead acetate	lead acetate results in decreased expression of PHF8 mRNA	21829687
D000077339	Leflunomide	Leflunomide results in decreased expression of PHF8 mRNA	28988120
D008701	Methapyrilene	Methapyrilene results in decreased methylation of PHF8 intron	30157460
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PHF8 gene	20938992
D008727	Methotrexate	Methotrexate affects the expression of PHF8 mRNA	18502557
C000622638	MLN7243	MLN7243 results in increased sumoylation of PHF8 protein	31285264
C028007	nickel monoxide	nickel monoxide results in increased expression of PHF8 mRNA	19167457
D009569	Nitric Oxide	Nitric Oxide results in increased expression of PHF8 mRNA	23546878
D010100	Oxygen	Oxygen deficiency results in increased expression of PHF8 mRNA	22629407
D010100	Oxygen	Oxygen inhibits the reaction [Oxygen deficiency results in increased expression of PHF8 mRNA]	22629407
D011794	Quercetin	Quercetin results in decreased expression of PHF8 mRNA	21632981
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of PHF8 mRNA	25895662
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PHF8 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to PHF8 promoter]	19654925
D013853	Thioacetamide	Thioacetamide results in decreased expression of PHF8 mRNA	23411599
C009495	titanium dioxide	titanium dioxide results in increased expression of PHF8 mRNA	29264374
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased methylation of PHF8 intron	31039056
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of PHF8 mRNA	28065790
D000077288	Troglitazone	Troglitazone results in decreased expression of PHF8 mRNA	28973697
D014414	Tungsten	Tungsten results in decreased expression of PHF8 mRNA	30912803
D014520	Urethane	Urethane results in increased expression of PHF8 mRNA	28818685
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of PHF8 gene	25560391
C025643	vinclozolin	vinclozolin results in decreased expression of PHF8 mRNA	21126777
C025643	vinclozolin	vinclozolin results in increased expression of PHF8 mRNA	23034163

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0010	Activator
KW-0025	Alternative splicing
KW-0131	Cell cycle
KW-0156	Chromatin regulator
KW-0223	Dioxygenase
KW-0225	Disease mutation
KW-0408	Iron
KW-0991	Mental retardation
KW-0479	Metal-binding
KW-0539	Nucleus
KW-0560	Oxidoreductase
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR041070	JHD
IPR003347	JmjC_dom
IPR019786	Zinc_finger_PHD-type_CS
IPR011011	Znf_FYVE_PHD
IPR001965	Znf_PHD
IPR019787	Znf_PHD-finger

PROSITE

PROSITE ID	PROSITE Term
PS51184	JMJC
PS01359	ZF_PHD_1
PS50016	ZF_PHD_2

Pfam

Pfam ID	Pfam Term
PF17811	JHD
PF02373	JmjC
PF00628	PHD

Gene: PHF8

Basic information

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

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