CleftGeneDB-Search

Gene: MID1

Basic information

Tag	Content
Uniprot ID	O15344; B2RCG2; O75361; Q9BZX5;
Entrez ID	4281
Genbank protein ID	CAA74018.1; AAH53626.1; AAC32999.1; AAC32998.1; AAG50192.1; AAG33130.1; AAB99951.1; AAG50191.1; AAC33001.1; AAC33000.1; AAC33002.1; BAG37559.1; EAW98780.1;
Genbank nucleotide ID	NM_001193281.1; XM_017029540.1; NM_001193279.1; NM_001193280.1; XM_017029536.1; NM_001193278.1; NM_000381.3; NM_001347733.1; NM_001193277.1; NM_001098624.2; NM_033290.3;
Ensembl protein ID	ENSP00000370162; ENSP00000370159; ENSP00000414521; ENSP00000312678; ENSP00000370157; ENSP00000370164; ENSP00000370156;
Ensembl nucleotide ID	ENSG00000101871
Gene name	E3 ubiquitin-protein ligase Midline-1
Gene symbol	MID1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	19049519; 9354791; 17221865;
Functional description	Has E3 ubiquitin ligase activity towards IGBP1, promoting its monoubiquitination, which results in deprotection of the catalytic subunit of protein phosphatase PP2A, and its subsequent degradation by polyubiquitination.
Sequence	METLESELTC PICLELFEDP LLLPCAHSLC FNCAHRILVS HCATNESVES ITAFQCPTCR 60 HVITLSQRGL DGLKRNVTLQ NIIDRFQKAS VSGPNSPSET RRERAFDANT MTSAEKVLCQ 120 FCDQDPAQDA VKTCVTCEVS YCDECLKATH PNKKPFTGHR LIEPIPDSHI RGLMCLEHED 180 EKVNMYCVTD DQLICALCKL VGRHRDHQVA ALSERYDKLK QNLESNLTNL IKRNTELETL 240 LAKLIQTCQH VEVNASRQEA KLTEECDLLI EIIQQRRQII GTKIKEGKVM RLRKLAQQIA 300 NCKQCIERSA SLISQAEHSL KENDHARFLQ TAKNITERVS MATASSQVLI PEINLNDTFD 360 TFALDFSREK KLLECLDYLT APNPPTIREE LCTASYDTIT VHWTSDDEFS VVSYELQYTI 420 FTGQANVVSL CNSADSWMIV PNIKQNHYTV HGLQSGTKYI FMVKAINQAG SRSSEPGKLK 480 TNSQPFKLDP KSAHRKLKVS HDNLTVERDE SSSKKSHTPE RFTSQGSYGV AGNVFIDSGR 540 HYWEVVISGS TWYAIGLAYK SAPKHEWIGK NSASWALCRC NNNWVVRHNS KEIPIEPAPH 600 LRRVGILLDY DNGSIAFYDA LNSIHLYTFD VAFAQPVCPT FTVWNKCLTI ITGLPIPDHL 660 DCTEQLP 667

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
2DQ5
2FFW
2JUN
5IM8
2DQ5
2FFW
2JUN

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	MID1	534604	E1BAD8	Bos taurus	Prediction	More>>
1:1 ortholog	MID1	491737	A0A5F4CNE1	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	MID1	102174822	A0A452EDX1	Capra hircus	Prediction	More>>
1:1 ortholog	MID1	100049999	F7CLC3	Equus caballus	Prediction	More>>
1:1 ortholog	MID1	4281	O15344	Homo sapiens	Publication	More>>
1:1 ortholog	Mid1	17318	O70583	Mus musculus	Prediction	More>>
1:1 ortholog	MID1		H2QYA1	Pan troglodytes	Prediction	More>>
1:1 ortholog	MID1	100524415	A0A5G2R4L4	Sus scrofa	Prediction	More>>
1:1 ortholog	Mid1	54252	P82458	Rattus norvegicus	Prediction	More>>
1:1 ortholog	mid1	100330952	E7FAU0	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
MID1	c.1745insG	Direct sequencing; SSCP	9354791
MID1	c.1787ins24bp	Direct sequencing; SSCP	9354791
MID1	p.delM438;	Direct sequencing; SSCP	9354791
MID1	c.434G>A; pCys145Tyr	PCR; sequencing	17221865
MID1	c.1793delC; p.His600fs	PCR; sequencing	17221865
MID1	ex1-9 deletion	PCR; sequencing	17221865
MID1	c.1285+1G>T	PCR; sequencing	17221865
MID1	c.397_401delACCTG; p.Thr133fs	PCR; sequencing	17221865
MID1	c.1832A>G; p.Asp611Gly	PCR; sequencing	17221865
MID1	c.819_829del11; p.Ile2273fs	PCR; sequencing	17221865
MID1	c.864+1G>T;	PCR; sequencing	17221865
MID1	c.388G>A; p.Ala130Ser	PCR; sequencing	17221865
MID1	c.1141+2T>C;	PCR; sequencing	17221865
MID1	c.1573C>T; p.Glu525*	PCR; sequencing	17221865
MID1	ex1 deletion	PCR; sequencing	17221865
MID1	c.712G>T; p.Glu238*	PCR; sequencing	17221865
MID1	c.1856_1858delATG; p.Met619del	PCR; sequencing	17221865
MID1	c.1957G>A; p.Gly653Arg	PCR; sequencing	17221865
MID1	c.1611_1612insTGAT; p.Ser538*	PCR; sequencing	17221865
MID1	c.1108A>G; p.Lys370Glu	PCR; sequencing	17221865
MID1	c.389A>T; p.Ala130Val	PCR; sequencing	17221865
MID1	c.561T>A; p.Cys187*	PCR; sequencing	17221865
MID1	c.1605_1606insGTTT; p.Ile536fs	PCR; sequencing	17221865
MID1	c.1594G>A; p.Gly532Arg	PCR; sequencing	17221865
MID1	c.1452_1455delACCA; p.Gln484fs	PCR; sequencing	17221865
MID1	c.430G>T; p.Glu144*	PCR; sequencing	17221865
MID1	c.425G>C; p.Gys142Ser	PCR; sequencing	17221865
MID1	c.1491-1533dup43; p.Ser511fs	PCR; sequencing	17221865
MID1	c.1663A>G; p.Ile555Val	PCR; sequencing	17221865
MID1	c.1286-1G>T	PCR; sequencing	31630581
MID1	haplotype combination rs2525073C/rs5934910G (protective)	Genotyping and TDT	19049519
MID1	haplotype combination rs869917T/rs2525073C/rs5934910G (protective)	Genotyping and TDT	19049519

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
COSM6041747	p.Glu7Ter	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.10567529C>A	NCI-TCGA Cosmic
rs1247267423	p.Thr9Ile	missense variant	-	NC_000023.11:g.10567522G>A	TOPMed,gnomAD
rs1555905454	p.Ile12Val	missense variant	-	NC_000023.11:g.10567514T>C	-
RCV000500062	p.Ile12Val	missense variant	-	NC_000023.11:g.10567514T>C	ClinVar
rs1199518877	p.Pro20Leu	missense variant	-	NC_000023.11:g.10567489G>A	gnomAD
COSM1112486	p.Ala26Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567472C>T	NCI-TCGA Cosmic
rs1001131284	p.Ser28Asn	missense variant	-	NC_000023.11:g.10567465C>T	TOPMed
rs1366033152	p.Ala34Val	missense variant	-	NC_000023.11:g.10567447G>A	gnomAD
rs201407794	p.Ala34Thr	missense variant	-	NC_000023.11:g.10567448C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs781375702	p.His35Gln	missense variant	-	NC_000023.11:g.10567443G>C	ExAC,TOPMed,gnomAD
rs1230622754	p.His35Asp	missense variant	-	NC_000023.11:g.10567445G>C	gnomAD
COSM6184725	p.His35Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567443G>T	NCI-TCGA Cosmic
rs1270080835	p.Arg36His	missense variant	-	NC_000023.11:g.10567441C>T	gnomAD
COSM6184726	p.Arg36Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567441C>A	NCI-TCGA Cosmic
rs755238099	p.Ile37Asn	missense variant	-	NC_000023.11:g.10567438A>T	ExAC,gnomAD
rs747064197	p.His41Arg	missense variant	-	NC_000023.11:g.10567426T>C	ExAC,gnomAD
rs747064197	p.His41Pro	missense variant	-	NC_000023.11:g.10567426T>G	ExAC,gnomAD
rs758530606	p.Thr44Ile	missense variant	-	NC_000023.11:g.10567417G>A	ExAC
rs779960944	p.Thr44Ala	missense variant	-	NC_000023.11:g.10567418T>C	ExAC,gnomAD
rs996298206	p.Asn45Lys	missense variant	-	NC_000023.11:g.10567413G>T	TOPMed
rs753662440	p.Asn45Ser	missense variant	-	NC_000023.11:g.10567414T>C	ExAC,TOPMed,gnomAD
rs1170099584	p.Glu46Lys	missense variant	-	NC_000023.11:g.10567412C>T	gnomAD
NCI-TCGA novel	p.Ser47Phe	missense variant	-	chrX:g.10567408G>A	NCI-TCGA
rs1388869848	p.Ser50Cys	missense variant	-	NC_000023.11:g.10567399G>C	TOPMed
rs764098546	p.Ile51Val	missense variant	-	NC_000023.11:g.10567397T>C	ExAC,gnomAD
rs147970950	p.Ala53Thr	missense variant	-	NC_000023.11:g.10567391C>T	ESP,ExAC,TOPMed,gnomAD
rs147970950	p.Ala53Thr	missense variant	-	chrX:g.10567391C>T	NCI-TCGA
rs1379754388	p.Thr58Ile	missense variant	-	NC_000023.11:g.10567375G>A	TOPMed
rs767256051	p.Thr58Pro	missense variant	-	NC_000023.11:g.10567376T>G	ExAC,gnomAD
rs1470523331	p.Arg60Trp	missense variant	-	NC_000023.11:g.10567370G>A	TOPMed,gnomAD
rs759189233	p.Arg60Gln	missense variant	-	NC_000023.11:g.10567369C>T	1000Genomes
rs759223555	p.Thr64Asn	missense variant	-	NC_000023.11:g.10567357G>T	ExAC,TOPMed,gnomAD
rs759223555	p.Thr64Ser	missense variant	-	NC_000023.11:g.10567357G>C	ExAC,TOPMed,gnomAD
rs765748631	p.Arg68Gln	missense variant	-	chrX:g.10567345C>T	NCI-TCGA,NCI-TCGA Cosmic
rs765748631	p.Arg68Gln	missense variant	-	NC_000023.11:g.10567345C>T	ExAC,gnomAD
rs1220297223	p.Gly72Arg	missense variant	-	NC_000023.11:g.10567334C>T	gnomAD
NCI-TCGA novel	p.Gly72Trp	missense variant	-	chrX:g.10567334C>A	NCI-TCGA
rs1266823249	p.Lys74Arg	missense variant	-	NC_000023.11:g.10567327T>C	TOPMed
COSM4105609	p.Arg75His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567324C>T	NCI-TCGA Cosmic
rs143416243	p.Val77Ile	missense variant	-	NC_000023.11:g.10567319C>T	ESP,ExAC,TOPMed,gnomAD
rs143416243	p.Val77Ile	missense variant	-	chrX:g.10567319C>T	NCI-TCGA
RCV000499934	p.Val77Ile	missense variant	-	NC_000023.11:g.10567319C>T	ClinVar
rs770387204	p.Gln80Ter	stop gained	-	NC_000023.11:g.10567310G>A	ExAC,gnomAD
rs1043173800	p.Gln80His	missense variant	-	NC_000023.11:g.10567308C>G	gnomAD
rs374851071	p.Asp84Asn	missense variant	-	NC_000023.11:g.10567298C>T	ESP,ExAC,TOPMed,gnomAD
rs1441326944	p.Asp84Glu	missense variant	-	NC_000023.11:g.10567296G>T	TOPMed
rs149218019	p.Arg85Ser	missense variant	-	NC_000023.11:g.10567293C>A	ESP,TOPMed
rs1407207268	p.Ala89Thr	missense variant	-	NC_000023.11:g.10567283C>T	TOPMed
COSM456422	p.Ala89Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567283C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser92Gly	missense variant	-	chrX:g.10567274T>C	NCI-TCGA
rs1366901870	p.Gly93Glu	missense variant	-	NC_000023.11:g.10567270C>T	TOPMed
rs747187740	p.Gly93Arg	missense variant	-	NC_000023.11:g.10567271C>T	ExAC,gnomAD
rs780339406	p.Asn95Ser	missense variant	-	NC_000023.11:g.10567264T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu99Gly	missense variant	-	chrX:g.10567252T>C	NCI-TCGA
rs147727283	p.Thr100Asn	missense variant	-	NC_000023.11:g.10567249G>T	ESP
COSM6018343	p.Thr100Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567249G>A	NCI-TCGA Cosmic
rs746029175	p.Arg101Cys	missense variant	-	NC_000023.11:g.10567247G>A	ExAC,gnomAD
rs202142461	p.Arg101His	missense variant	-	NC_000023.11:g.10567246C>T	ESP,ExAC,TOPMed,gnomAD
rs202142461	p.Arg101His	missense variant	-	chrX:g.10567246C>T	NCI-TCGA
COSM6116928	p.Arg101Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567247G>T	NCI-TCGA Cosmic
rs200381037	p.Arg102Gln	missense variant	-	NC_000023.11:g.10567243C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs756170550	p.Arg102Trp	missense variant	-	NC_000023.11:g.10567244G>A	ExAC,TOPMed,gnomAD
rs756170550	p.Arg102Trp	missense variant	-	chrX:g.10567244G>A	NCI-TCGA
rs200381037	p.Arg102Gln	missense variant	-	chrX:g.10567243C>T	NCI-TCGA,NCI-TCGA Cosmic
rs199516073	p.Arg104Gln	missense variant	-	NC_000023.11:g.10567237C>T	TOPMed
rs767372071	p.Arg104Trp	missense variant	-	NC_000023.11:g.10567238G>A	ExAC,TOPMed,gnomAD
rs1352145801	p.Ala105Thr	missense variant	-	NC_000023.11:g.10567235C>T	gnomAD
NCI-TCGA novel	p.Ala105Asp	missense variant	-	chrX:g.10567234G>T	NCI-TCGA
NCI-TCGA novel	p.Asp107Glu	missense variant	-	chrX:g.10567227G>T	NCI-TCGA
rs751104556	p.Ala108Gly	missense variant	-	NC_000023.11:g.10567225G>C	ExAC,gnomAD
RCV000478970	p.Ala114Thr	missense variant	-	NC_000023.11:g.10567208C>T	ClinVar
rs749995175	p.Ala114Thr	missense variant	-	NC_000023.11:g.10567208C>T	ExAC,TOPMed,gnomAD
rs749995175	p.Ala114Ser	missense variant	-	NC_000023.11:g.10567208C>A	ExAC,TOPMed,gnomAD
RCV000011556	p.Glu115Ter	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10567205C>A	ClinVar
rs104894865	p.Glu115Gln	missense variant	-	NC_000023.11:g.10567205C>G	TOPMed,gnomAD
rs104894865	p.Glu115Ter	stop gained	-	NC_000023.11:g.10567205C>A	TOPMed,gnomAD
rs104894865	p.Glu115Lys	missense variant	-	NC_000023.11:g.10567205C>T	TOPMed,gnomAD
rs1372240598	p.Leu118Phe	missense variant	-	NC_000023.11:g.10567196G>A	gnomAD
NCI-TCGA novel	p.Gln120Lys	missense variant	-	chrX:g.10567190G>T	NCI-TCGA
rs762272910	p.Gln124Arg	missense variant	-	NC_000023.11:g.10567177T>C	ExAC
COSM3843113	p.Asp125Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567175C>T	NCI-TCGA Cosmic
rs1258308744	p.Pro126Ser	missense variant	-	NC_000023.11:g.10567172G>A	TOPMed
NCI-TCGA novel	p.Ala130Thr	missense variant	-	chrX:g.10567160C>T	NCI-TCGA
rs927091019	p.Lys132Asn	missense variant	-	NC_000023.11:g.10567152C>A	TOPMed
NCI-TCGA novel	p.Glu138Ter	stop gained	-	chrX:g.10567136C>A	NCI-TCGA
COSM4702169	p.Asp143Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567121C>T	NCI-TCGA Cosmic
rs772398285	p.Glu144Ala	missense variant	-	NC_000023.11:g.10567117T>G	ExAC
rs371028819	p.Glu144Lys	missense variant	-	NC_000023.11:g.10567118C>T	ESP,ExAC,TOPMed,gnomAD
rs371028819	p.Glu144Lys	missense variant	-	chrX:g.10567118C>T	NCI-TCGA,NCI-TCGA Cosmic
COSM5616185	p.Cys145Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567114C>A	NCI-TCGA Cosmic
rs748040551	p.Gly158Ser	missense variant	-	NC_000023.11:g.10567076C>T	ExAC,gnomAD
COSM1112482	p.Arg160Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567069C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg160Cys	missense variant	-	chrX:g.10567070G>A	NCI-TCGA
rs1171605375	p.Ile165Phe	missense variant	-	NC_000023.11:g.10567055T>A	TOPMed
rs781279006	p.Pro166Leu	missense variant	-	NC_000023.11:g.10567051G>A	ExAC,gnomAD
rs1270408199	p.Ser168Phe	missense variant	-	NC_000023.11:g.10567045G>A	gnomAD
rs1464375714	p.Arg171Trp	missense variant	-	NC_000023.11:g.10567037G>A	TOPMed
NCI-TCGA novel	p.Leu173Ter	frameshift	-	chrX:g.10567032C>-	NCI-TCGA
rs1316707756	p.Met174Ile	missense variant	-	NC_000023.11:g.10567026C>T	gnomAD
rs1290082018	p.Cys175Tyr	missense variant	-	NC_000023.11:g.10567024C>T	gnomAD
rs1376311711	p.Val183Met	missense variant	-	NC_000023.11:g.10567001C>T	gnomAD
rs368927481	p.Asn184Lys	missense variant	-	NC_000023.11:g.10566996A>C	ESP,ExAC,TOPMed,gnomAD
rs992236377	p.Met185Arg	missense variant	-	NC_000023.11:g.10566994A>C	TOPMed
NCI-TCGA novel	p.Cys187Ser	missense variant	-	chrX:g.10566989A>T	NCI-TCGA
NCI-TCGA novel	p.Cys195Tyr	missense variant	-	chrX:g.10566964C>T	NCI-TCGA
rs754279780	p.Arg203Gln	missense variant	-	NC_000023.11:g.10566940C>T	ExAC,gnomAD
rs1452714186	p.Arg203Trp	missense variant	-	NC_000023.11:g.10566941G>A	gnomAD
COSM293834	p.Arg203Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10566941G>A	NCI-TCGA Cosmic
rs965275724	p.Arg205Cys	missense variant	-	NC_000023.11:g.10566935G>A	gnomAD
rs752432972	p.Arg205His	missense variant	-	chrX:g.10566934C>T	NCI-TCGA,NCI-TCGA Cosmic
COSM456421	p.Asp206Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10566932C>T	NCI-TCGA Cosmic
rs1383446204	p.His207Gln	missense variant	-	NC_000023.11:g.10566927A>C	gnomAD
rs374812607	p.Ala210Thr	missense variant	-	NC_000023.11:g.10566920C>T	ESP,gnomAD
rs1250379544	p.Ala211Val	missense variant	-	NC_000023.11:g.10566916G>A	gnomAD
NCI-TCGA novel	p.Asp217Asn	missense variant	-	chrX:g.10566899C>T	NCI-TCGA
rs746168447	p.Leu219Ser	missense variant	-	NC_000023.11:g.10566892A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Leu219Phe	missense variant	-	chrX:g.10566891C>A	NCI-TCGA
rs774710060	p.Gln221Lys	missense variant	-	NC_000023.11:g.10523187G>T	ExAC
rs766764184	p.Asn222Lys	missense variant	-	NC_000023.11:g.10523182G>T	ExAC
rs1320017604	p.Asn222Asp	missense variant	-	NC_000023.11:g.10523184T>C	TOPMed
COSM1464595	p.Leu223Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10523180A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu223Ter	frameshift	-	chrX:g.10523180A>-	NCI-TCGA
rs1305140739	p.Glu224Asp	missense variant	-	NC_000023.11:g.10523176C>G	gnomAD
rs763101201	p.Ser225Asn	missense variant	-	NC_000023.11:g.10523174C>T	ExAC,gnomAD
rs750948750	p.Leu227Phe	missense variant	-	NC_000023.11:g.10523169G>A	1000Genomes,ExAC,gnomAD
rs769792761	p.Asn229Tyr	missense variant	-	NC_000023.11:g.10523163T>A	ExAC,gnomAD
rs202082858	p.Asn229Ser	missense variant	-	NC_000023.11:g.10523162T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1250928460	p.Ile231Phe	missense variant	-	NC_000023.11:g.10523157T>A	TOPMed
rs1483794967	p.Ile231Thr	missense variant	-	NC_000023.11:g.10523156A>G	TOPMed
NCI-TCGA novel	p.Lys232Gln	missense variant	-	chrX:g.10523154T>G	NCI-TCGA
rs1405782698	p.Asn234Lys	missense variant	-	NC_000023.11:g.10523146G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Thr235Ile	missense variant	-	chrX:g.10523144G>A	NCI-TCGA
NCI-TCGA novel	p.Glu236Ter	stop gained	-	chrX:g.10523142C>A	NCI-TCGA
rs387906719	p.Glu238Ter	stop gained	-	NC_000023.11:g.10523136C>A	-
RCV000022867	p.Glu238Ter	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10523136C>A	ClinVar
COSM1490292	p.Glu238Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10523136C>G	NCI-TCGA Cosmic
rs771836382	p.Thr239Ala	missense variant	-	NC_000023.11:g.10523133T>C	ExAC
rs1180670969	p.Ala242Asp	missense variant	-	NC_000023.11:g.10523123G>T	TOPMed,gnomAD
rs1361646972	p.Ala242Ser	missense variant	-	NC_000023.11:g.10523124C>A	gnomAD
rs1180670969	p.Ala242Val	missense variant	-	NC_000023.11:g.10523123G>A	TOPMed,gnomAD
COSM1112376	p.Leu244Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10523118G>A	NCI-TCGA Cosmic
rs1480264678	p.Val253Ile	missense variant	-	NC_000023.11:g.10495691C>T	gnomAD
rs755644971	p.Arg257Cys	missense variant	-	NC_000023.11:g.10495679G>A	ExAC,TOPMed,gnomAD
rs747668073	p.Arg257His	missense variant	-	NC_000023.11:g.10495678C>T	ExAC,TOPMed,gnomAD
rs781707475	p.Ala260Thr	missense variant	-	NC_000023.11:g.10495670C>T	ExAC,TOPMed,gnomAD
RCV000178081	p.Lys261Ter	frameshift	-	NC_000023.11:g.10495667del	ClinVar
rs1229360357	p.Glu264Gly	missense variant	-	NC_000023.11:g.10495657T>C	TOPMed
NCI-TCGA novel	p.Glu264Lys	missense variant	-	chrX:g.10495658C>T	NCI-TCGA
NCI-TCGA novel	p.Glu264Ter	stop gained	-	chrX:g.10495658C>A	NCI-TCGA
VAR_013758	p.Cys266Arg	Missense	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
COSM3556195	p.Asp267Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10495649C>T	NCI-TCGA Cosmic
rs1326064853	p.Leu268His	missense variant	-	NC_000023.11:g.10495645A>T	gnomAD
NCI-TCGA novel	p.Gln274Ter	stop gained	-	chrX:g.10495628G>A	NCI-TCGA
rs1555895704	p.Arg277Ter	stop gained	-	NC_000023.11:g.10495619G>A	-
rs1261715086	p.Arg277Gln	missense variant	-	NC_000023.11:g.10495618C>T	TOPMed,gnomAD
RCV000659849	p.Arg277Ter	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10495619G>A	ClinVar
rs1222510983	p.Gln278Arg	missense variant	-	NC_000023.11:g.10495615T>C	gnomAD
rs1171594481	p.Ile284Val	missense variant	-	NC_000023.11:g.10495598T>C	gnomAD
rs1203361279	p.Met290Ile	missense variant	-	NC_000023.11:g.10482623C>G	gnomAD
rs774294547	p.Arg291Lys	missense variant	-	NC_000023.11:g.10482621C>T	ExAC,TOPMed,gnomAD
rs899677777	p.Arg293His	missense variant	-	NC_000023.11:g.10482615C>T	TOPMed
rs1285865197	p.Lys294Arg	missense variant	-	NC_000023.11:g.10482612T>C	gnomAD
RCV000011558	p.Leu295Pro	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10482609A>G	ClinVar
rs104894866	p.Leu295Pro	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10482609A>G	UniProt,dbSNP
VAR_025495	p.Leu295Pro	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10482609A>G	UniProt
rs104894866	p.Leu295Pro	missense variant	-	NC_000023.11:g.10482609A>G	-
rs1206390719	p.Ile299Thr	missense variant	-	NC_000023.11:g.10482597A>G	gnomAD
NCI-TCGA novel	p.Cys302Ser	missense variant	-	chrX:g.10482589A>T	NCI-TCGA
NCI-TCGA novel	p.Cys305Arg	missense variant	-	chrX:g.10482580A>G	NCI-TCGA
rs1284334406	p.Ile306Val	missense variant	-	NC_000023.11:g.10482577T>C	gnomAD
NCI-TCGA novel	p.Glu307GlyPheSerTerUnkUnk	frameshift	-	chrX:g.10482573_10482574insC	NCI-TCGA
rs762802896	p.Arg308Gln	missense variant	-	NC_000023.11:g.10482570C>T	ExAC,gnomAD
RCV000659850	p.Arg308Ter	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10482571del	ClinVar
rs149787593	p.Arg308Trp	missense variant	-	NC_000023.11:g.10482571G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile313LeuPheSerTerUnk	frameshift	-	chrX:g.10482540_10482556TGTTCCGCTTGGGAGAT>-	NCI-TCGA
rs398123344	p.Ala316Glu	missense variant	-	NC_000023.11:g.10482546G>T	TOPMed
rs398123344	p.Ala316Val	missense variant	-	NC_000023.11:g.10482546G>A	TOPMed
RCV000078684	p.Ala316Glu	missense variant	-	NC_000023.11:g.10482546G>T	ClinVar
rs1399226678	p.His318Gln	missense variant	-	NC_000023.11:g.10482539G>C	gnomAD
COSM754825	p.Ser319Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10482538A>T	NCI-TCGA Cosmic
rs1163978469	p.His325Pro	missense variant	-	NC_000023.11:g.10482519T>G	gnomAD
COSM4105549	p.His325Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10482520G>A	NCI-TCGA Cosmic
rs1483645727	p.Arg327Cys	missense variant	-	NC_000023.11:g.10482514G>A	TOPMed
NCI-TCGA novel	p.Arg327His	missense variant	-	chrX:g.10482513C>T	NCI-TCGA
NCI-TCGA novel	p.Ala332Val	missense variant	-	chrX:g.10482498G>A	NCI-TCGA
rs1205263035	p.Asn334Ser	missense variant	-	NC_000023.11:g.10482492T>C	TOPMed
COSM1112372	p.Ile335Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10482489A>G	NCI-TCGA Cosmic
rs747456797	p.Glu337Lys	missense variant	-	NC_000023.11:g.10482484C>T	ExAC
rs747456797	p.Glu337Lys	missense variant	-	chrX:g.10482484C>T	NCI-TCGA
rs1205933022	p.Ser340Pro	missense variant	-	NC_000023.11:g.10474746A>G	gnomAD
NCI-TCGA novel	p.Ser340Phe	missense variant	-	chrX:g.10474745G>A	NCI-TCGA
rs1160642369	p.Ser346Pro	missense variant	-	NC_000023.11:g.10474728A>G	TOPMed,gnomAD
rs1239445670	p.Gln347His	missense variant	-	NC_000023.11:g.10474723C>A	gnomAD
NCI-TCGA novel	p.Gln347His	missense variant	-	chrX:g.10474723C>A	NCI-TCGA
COSM6184750	p.Pro351Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10474713G>T	NCI-TCGA Cosmic
rs777949146	p.Ile353Thr	missense variant	-	NC_000023.11:g.10474706A>G	ExAC,gnomAD
rs756366511	p.Asn354Lys	missense variant	-	NC_000023.11:g.10474702G>T	ExAC,TOPMed,gnomAD
rs748399428	p.Asn356Ser	missense variant	-	NC_000023.11:g.10474697T>C	ExAC,TOPMed,gnomAD
rs750257635	p.Thr361Ser	missense variant	-	NC_000023.11:g.10474682G>C	ExAC,gnomAD
COSM1490291	p.Thr361Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10474682G>A	NCI-TCGA Cosmic
rs765282014	p.Leu364Ile	missense variant	-	NC_000023.11:g.10474674A>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe366Cys	missense variant	-	chrX:g.10474667A>C	NCI-TCGA
rs753740212	p.Arg368Gln	missense variant	-	NC_000023.11:g.10474661C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys370Thr	missense variant	-	chrX:g.10474655T>G	NCI-TCGA
NCI-TCGA novel	p.Asp377His	missense variant	-	chrX:g.10474635C>G	NCI-TCGA
rs1373430724	p.Tyr378His	missense variant	-	NC_000023.11:g.10474632A>G	gnomAD
NCI-TCGA novel	p.Tyr378Cys	missense variant	-	chrX:g.10474631T>C	NCI-TCGA
NCI-TCGA novel	p.Pro384His	missense variant	-	chrX:g.10469831G>T	NCI-TCGA
rs200213912	p.Pro385Ala	missense variant	-	NC_000023.11:g.10469829G>C	ExAC,TOPMed,gnomAD
rs1265184704	p.Thr386Ile	missense variant	-	NC_000023.11:g.10469825G>A	gnomAD
rs771515674	p.Arg388Thr	missense variant	-	NC_000023.11:g.10469819C>G	ExAC,TOPMed,gnomAD
rs1486145790	p.Glu389Lys	missense variant	-	NC_000023.11:g.10469817C>T	gnomAD
NCI-TCGA novel	p.Leu391Phe	missense variant	-	chrX:g.10469811G>A	NCI-TCGA
VAR_025496	p.Leu391_Cys392delinsArg	deletion_insertion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
rs1261435013	p.Cys392Tyr	missense variant	-	NC_000023.11:g.10469807C>T	gnomAD
rs948448691	p.Ala394Pro	missense variant	-	NC_000023.11:g.10469802C>G	TOPMed
COSM71644	p.Ala394Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10469802C>G	NCI-TCGA Cosmic
rs1210633665	p.Ser395Ter	stop gained	-	NC_000023.11:g.10469798G>T	gnomAD
rs1366882934	p.Thr398Ala	missense variant	-	NC_000023.11:g.10469790T>C	gnomAD
rs1423462435	p.Thr400Ala	missense variant	-	NC_000023.11:g.10469784T>C	gnomAD
rs1169601679	p.Val401Ala	missense variant	-	NC_000023.11:g.10469780A>G	gnomAD
rs1224524115	p.Asp406Gly	missense variant	-	NC_000023.11:g.10469765T>C	TOPMed,gnomAD
rs1224524115	p.Asp406Val	missense variant	-	NC_000023.11:g.10469765T>A	TOPMed,gnomAD
rs768610642	p.Asp407His	missense variant	-	NC_000023.11:g.10469763C>G	ExAC,gnomAD
rs1280587582	p.Ser410Thr	missense variant	-	NC_000023.11:g.10469753C>G	TOPMed
rs778696153	p.Val411Met	missense variant	-	NC_000023.11:g.10469751C>T	ExAC,gnomAD
rs1466434678	p.Thr419Ile	missense variant	-	NC_000023.11:g.10469726G>A	TOPMed
rs1002864796	p.Gly423Arg	missense variant	-	NC_000023.11:g.10469715C>T	TOPMed
rs1337827121	p.Ala425Thr	missense variant	-	NC_000023.11:g.10469709C>T	gnomAD
rs755985917	p.Val427Ile	missense variant	-	NC_000023.11:g.10469703C>T	ExAC,TOPMed,gnomAD
rs755985917	p.Val427Ile	missense variant	-	chrX:g.10469703C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1280989248	p.Val428Ile	missense variant	-	NC_000023.11:g.10469700C>T	TOPMed,gnomAD
RCV000729030	p.Val428Ile	missense variant	-	NC_000023.11:g.10469700C>T	ClinVar
rs768937441	p.Ser429Asn	missense variant	-	NC_000023.11:g.10459807C>T	ExAC,gnomAD
rs780880323	p.Ser433Leu	missense variant	-	NC_000023.11:g.10459795G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs780880323	p.Ser433Leu	missense variant	-	chrX:g.10459795G>A	NCI-TCGA,NCI-TCGA Cosmic
rs786200982	p.AlaAsp434AlaAspTerUnk	stop gained	-	NC_000023.11:g.10459788_10459791dup	-
COSM1315090	p.Asp435His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10459790C>G	NCI-TCGA Cosmic
RCV000180150	p.Ser436Ter	nonsense	-	NC_000023.11:g.10459788_10459791dup	ClinVar
VAR_013759	p.Met438del	inframe_deletion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
COSM1112367	p.Val440Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10459775C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn442Asp	missense variant	-	chrX:g.10459769T>C	NCI-TCGA
rs1320558372	p.His447Tyr	missense variant	-	NC_000023.11:g.10459754G>A	gnomAD
rs772124520	p.His447Gln	missense variant	-	NC_000023.11:g.10459752G>C	ExAC,gnomAD
RCV000719817	p.Tyr448His	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.10459751A>G	ClinVar
rs201454444	p.Thr449Met	missense variant	-	NC_000023.11:g.10459747G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000657884	p.Gly452Ser	missense variant	-	NC_000023.11:g.10459739C>T	ClinVar
rs1556004404	p.Gly452Ser	missense variant	-	NC_000023.11:g.10459739C>T	-
RCV000659851	p.Gln454Arg	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10459732T>C	ClinVar
rs746602154	p.Gly456Ser	missense variant	-	NC_000023.11:g.10459727C>T	ExAC,gnomAD
rs1335896786	p.Thr457Ile	missense variant	-	NC_000023.11:g.10459723G>A	TOPMed
rs1291943707	p.Met462Ile	missense variant	-	NC_000023.11:g.10459707C>T	gnomAD
rs1487662491	p.Met462Thr	missense variant	-	NC_000023.11:g.10459708A>G	gnomAD
NCI-TCGA novel	p.Val463Ala	missense variant	-	chrX:g.10459705A>G	NCI-TCGA
rs757888585	p.Lys464Arg	missense variant	-	NC_000023.11:g.10459702T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys464Asn	missense variant	-	chrX:g.10459701C>A	NCI-TCGA
RCV000659852	p.Ala465Pro	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10459700C>G	ClinVar
rs1556004366	p.Ala465Pro	missense variant	-	NC_000023.11:g.10459700C>G	-
NCI-TCGA novel	p.Asn467Ile	missense variant	-	chrX:g.10459693T>A	NCI-TCGA
rs967412425	p.Gln468Arg	missense variant	-	NC_000023.11:g.10459690T>C	TOPMed
rs1254680142	p.Ala469Ser	missense variant	-	NC_000023.11:g.10459688C>A	TOPMed,gnomAD
rs1254680142	p.Ala469Thr	missense variant	-	NC_000023.11:g.10459688C>T	TOPMed,gnomAD
rs1311942233	p.Ala469Val	missense variant	-	NC_000023.11:g.10459687G>A	gnomAD
NCI-TCGA novel	p.Ala469Val	missense variant	-	chrX:g.10459687G>A	NCI-TCGA
rs761537930	p.Gly470Asp	missense variant	-	NC_000023.11:g.10459684C>T	gnomAD
rs749981475	p.Ser471Gly	missense variant	-	NC_000023.11:g.10459682T>C	ExAC,gnomAD
rs765706233	p.Ser471Arg	missense variant	-	NC_000023.11:g.10459680G>C	ExAC,TOPMed,gnomAD
rs749981475	p.Ser471Cys	missense variant	-	NC_000023.11:g.10459682T>A	ExAC,gnomAD
rs765706233	p.Ser471Arg	missense variant	-	NC_000023.11:g.10459680G>T	ExAC,TOPMed,gnomAD
rs370465458	p.Arg472His	missense variant	-	NC_000023.11:g.10459678C>T	ESP,ExAC,TOPMed,gnomAD
rs1339922842	p.Arg472Cys	missense variant	-	NC_000023.11:g.10459679G>A	TOPMed,gnomAD
rs200124370	p.Ser473Asn	missense variant	-	NC_000023.11:g.10459675C>T	1000Genomes,ExAC
NCI-TCGA novel	p.Glu475AspPheSerTerUnk	frameshift	-	chrX:g.10459668C>-	NCI-TCGA
NCI-TCGA novel	p.Leu479Ter	stop gained	-	chrX:g.10459657A>T	NCI-TCGA
NCI-TCGA novel	p.Asn482Ser	missense variant	-	chrX:g.10459648T>C	NCI-TCGA
RCV000180149	p.Ser483Ter	frameshift	-	NC_000023.11:g.10459649_10459652dup	ClinVar
RCV000659853	p.Pro485Ter	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10455072del	ClinVar
rs758089179	p.Lys491Thr	missense variant	-	NC_000023.11:g.10455053T>G	ExAC,TOPMed,gnomAD
rs758089179	p.Lys491Arg	missense variant	-	NC_000023.11:g.10455053T>C	ExAC,TOPMed,gnomAD
rs373136825	p.His494Tyr	missense variant	-	NC_000023.11:g.10455045G>A	ESP,TOPMed
rs745554420	p.Arg495Ter	stop gained	-	NC_000023.11:g.10455042G>A	ExAC,gnomAD
RCV000659854	p.Arg495Ter	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10455042G>A	ClinVar
RCV000627230	p.Arg495Ter	nonsense	-	NC_000023.11:g.10455042G>A	ClinVar
rs1430919712	p.Arg495Gln	missense variant	-	NC_000023.11:g.10455041C>T	TOPMed,gnomAD
COSM3556163	p.Val499Met	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10455030C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.His501Arg	missense variant	-	chrX:g.10455023T>C	NCI-TCGA
rs370948485	p.Leu504Phe	missense variant	-	NC_000023.11:g.10455013C>G	ESP,ExAC,gnomAD
rs145973480	p.Thr505Arg	missense variant	-	NC_000023.11:g.10455011G>C	ESP,ExAC,TOPMed,gnomAD
COSM6184751	p.Glu507Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10455006C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu507Lys	missense variant	-	chrX:g.10455006C>T	NCI-TCGA
rs376241755	p.Arg508His	missense variant	-	NC_000023.11:g.10455002C>T	ESP,ExAC,gnomAD
rs1401866525	p.Arg508Cys	missense variant	-	NC_000023.11:g.10455003G>A	TOPMed
NCI-TCGA novel	p.Arg508Leu	missense variant	-	chrX:g.10455002C>A	NCI-TCGA
rs1225629827	p.Glu510Gly	missense variant	-	NC_000023.11:g.10454996T>C	gnomAD
rs794727956	p.Ser513Pro	missense variant	-	NC_000023.11:g.10454988A>G	-
RCV000180496	p.Ser513Pro	missense variant	-	NC_000023.11:g.10454988A>G	ClinVar
NCI-TCGA novel	p.Lys514Gln	missense variant	-	chrX:g.10454985T>G	NCI-TCGA
RCV000011559	p.Thr518Ter	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454978_10454979CT[1]	ClinVar
NCI-TCGA novel	p.Pro519Ala	missense variant	-	chrX:g.10454970G>C	NCI-TCGA
RCV000011554	p.Glu520Ter	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454967dup	ClinVar
rs369909019	p.Arg521His	missense variant	-	NC_000023.11:g.10454963C>T	ESP,ExAC,TOPMed,gnomAD
rs149482288	p.Arg521Cys	missense variant	-	NC_000023.11:g.10454964G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000180497	p.Arg521Cys	missense variant	-	NC_000023.11:g.10454964G>A	ClinVar
rs369909019	p.Arg521Leu	missense variant	-	NC_000023.11:g.10454963C>A	ESP,ExAC,TOPMed,gnomAD
RCV000490086	p.Arg521His	missense variant	-	NC_000023.11:g.10454963C>T	ClinVar
rs774726726	p.Thr523Ala	missense variant	-	NC_000023.11:g.10454958T>C	ExAC
rs1339873549	p.Gly529Ala	missense variant	-	NC_000023.11:g.10454939C>G	TOPMed
rs763005757	p.Val530Ile	missense variant	-	NC_000023.11:g.10454937C>T	ExAC,gnomAD
rs776614617	p.Ala531Val	missense variant	-	NC_000023.11:g.10454933G>A	ExAC,TOPMed,gnomAD
rs1279961984	p.Asn533Thr	missense variant	-	NC_000023.11:g.10454927T>G	TOPMed
rs1338268932	p.Val534Met	missense variant	-	NC_000023.11:g.10454925C>T	gnomAD
rs1464286489	p.Val534Gly	missense variant	-	NC_000023.11:g.10454924A>C	gnomAD
VAR_013760	p.Val534insValPheIleAspSerGlyArgHisLeu	inframe_insertion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
NCI-TCGA novel	p.Phe535Cys	missense variant	-	chrX:g.10454921A>C	NCI-TCGA
VAR_013761	p.Ile536Thr	Missense	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
rs775227924	p.Ser538Thr	missense variant	-	NC_000023.11:g.10454912C>G	ExAC,TOPMed,gnomAD
RCV000659855	p.Ser538Ter	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454916_10454919dup	ClinVar
COSM1464593	p.Gly539Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10454909C>T	NCI-TCGA Cosmic
rs1420374178	p.Arg540Trp	missense variant	-	NC_000023.11:g.10454907G>A	gnomAD
NCI-TCGA novel	p.Arg540Trp	missense variant	-	chrX:g.10454907G>A	NCI-TCGA
rs771878559	p.Val546Ile	missense variant	-	NC_000023.11:g.10454889C>T	ExAC,gnomAD
rs398123341	p.Ile555Leu	missense variant	-	NC_000023.11:g.10449709T>G	ExAC,TOPMed,gnomAD
rs398123341	p.Ile555Val	missense variant	-	NC_000023.11:g.10449709T>C	ExAC,TOPMed,gnomAD
RCV000078677	p.Ile555Leu	missense variant	-	NC_000023.11:g.10449709T>G	ClinVar
RCV000659856	p.Ile555Val	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449709T>C	ClinVar
COSM1112366	p.Leu557Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10449703G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr559His	missense variant	-	chrX:g.10449697A>G	NCI-TCGA
RCV000440069	p.Lys560Arg	missense variant	-	NC_000023.11:g.10449693T>C	ClinVar
rs1057520313	p.Lys560Arg	missense variant	-	NC_000023.11:g.10449693T>C	-
NCI-TCGA novel	p.Ser561Pro	missense variant	-	chrX:g.10449691A>G	NCI-TCGA
rs1489299753	p.Ala562Val	missense variant	-	NC_000023.11:g.10449687G>A	gnomAD
rs750506306	p.Pro563Leu	missense variant	-	NC_000023.11:g.10449684G>A	ExAC,TOPMed,gnomAD
rs750506306	p.Pro563Leu	missense variant	-	chrX:g.10449684G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1184266835	p.Lys564Gln	missense variant	-	NC_000023.11:g.10449682T>G	gnomAD
rs1360715026	p.His565Asn	missense variant	-	NC_000023.11:g.10449679G>T	gnomAD
rs775422871	p.Ile568Thr	missense variant	-	NC_000023.11:g.10449669A>G	ExAC,TOPMed,gnomAD
rs1387762588	p.Ile568Val	missense variant	-	NC_000023.11:g.10449670T>C	TOPMed
NCI-TCGA novel	p.Asn571Tyr	missense variant	-	chrX:g.10449661T>A	NCI-TCGA
rs1556001968	p.Trp575Ter	stop gained	-	NC_000023.11:g.10449647C>T	-
RCV000659857	p.Trp575Ter	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449647C>T	ClinVar
rs773980150	p.Ala576Val	missense variant	-	NC_000023.11:g.10449645G>A	ExAC,gnomAD
rs773980150	p.Ala576Val	missense variant	-	chrX:g.10449645G>A	NCI-TCGA
rs770539991	p.Arg579Cys	missense variant	-	NC_000023.11:g.10449637G>A	ExAC,gnomAD
rs761774660	p.Arg579His	missense variant	-	NC_000023.11:g.10449636C>T	ExAC,gnomAD
rs770539991	p.Arg579Cys	missense variant	-	chrX:g.10449637G>A	NCI-TCGA
rs1457192745	p.Asn583Ser	missense variant	-	NC_000023.11:g.10449624T>C	gnomAD
rs777097030	p.Val586Met	missense variant	-	NC_000023.11:g.10449616C>T	ExAC,TOPMed,gnomAD
rs777097030	p.Val586Leu	missense variant	-	NC_000023.11:g.10449616C>A	ExAC,TOPMed,gnomAD
rs748598463	p.Arg587Thr	missense variant	-	NC_000023.11:g.10449612C>G	ExAC,gnomAD
rs760349065	p.His588Asn	missense variant	-	NC_000023.11:g.10449610G>T	1000Genomes
rs1556001939	p.Asn589Asp	missense variant	-	NC_000023.11:g.10449607T>C	-
RCV000626680	p.Asn589Asp	missense variant	Hypertelorism	NC_000023.11:g.10449607T>C	ClinVar
rs1329135216	p.Ile595Leu	missense variant	-	NC_000023.11:g.10449589T>G	TOPMed
rs988941083	p.Pro597Ser	missense variant	-	NC_000023.11:g.10449583G>A	TOPMed
rs369262421	p.Ala598Val	missense variant	-	NC_000023.11:g.10449579G>A	ESP,ExAC,TOPMed,gnomAD
rs369262421	p.Ala598Gly	missense variant	-	NC_000023.11:g.10449579G>C	ESP,ExAC,TOPMed,gnomAD
rs1352607382	p.Pro599Ala	missense variant	-	NC_000023.11:g.10449577G>C	TOPMed
RCV000173680	p.His600Ter	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449579dup	ClinVar
rs1802191	p.His600Tyr	missense variant	-	NC_000023.11:g.10449574G>A	TOPMed,gnomAD
rs1802191	p.His600Asp	missense variant	-	NC_000023.11:g.10449574G>C	TOPMed,gnomAD
RCV000790799	p.His600Ter	frameshift	-	NC_000023.11:g.10449579dup	ClinVar
NCI-TCGA novel	p.His600ThrPheSerTerUnkUnk	frameshift	-	chrX:g.10449574G>-	NCI-TCGA
NCI-TCGA novel	p.Leu601Ile	missense variant	-	chrX:g.10449571G>T	NCI-TCGA
rs758507303	p.Arg602Gln	missense variant	-	NC_000023.11:g.10449567C>T	ExAC,TOPMed,gnomAD
rs780389420	p.Arg602Trp	missense variant	-	NC_000023.11:g.10449568G>A	ExAC,TOPMed,gnomAD
rs750682655	p.Arg603His	missense variant	-	NC_000023.11:g.10449564C>T	ExAC,gnomAD
rs750682655	p.Arg603His	missense variant	-	chrX:g.10449564C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1033237113	p.Val604Leu	missense variant	-	NC_000023.11:g.10449562C>A	TOPMed,gnomAD
rs1033237113	p.Val604Met	missense variant	-	NC_000023.11:g.10449562C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Tyr610Cys	missense variant	-	chrX:g.10449543T>C	NCI-TCGA
rs757366426	p.Asn612Ser	missense variant	-	NC_000023.11:g.10449537T>C	ExAC,TOPMed,gnomAD
rs1205719863	p.Gly613Ser	missense variant	-	NC_000023.11:g.10449535C>T	TOPMed
rs767500744	p.Ser614Phe	missense variant	-	NC_000023.11:g.10449531G>A	ExAC,TOPMed,gnomAD
rs1473385224	p.Ile615Val	missense variant	-	NC_000023.11:g.10449529T>C	TOPMed
rs1169366982	p.Ala616Thr	missense variant	-	NC_000023.11:g.10449526C>T	gnomAD
COSM5513751	p.Ala616Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10449526C>T	NCI-TCGA Cosmic
rs1421698210	p.Tyr618Phe	missense variant	-	NC_000023.11:g.10449519T>A	gnomAD
rs766217789	p.Ala620Ser	missense variant	-	NC_000023.11:g.10449514C>A	ExAC,gnomAD
rs762453585	p.Ala620Val	missense variant	-	NC_000023.11:g.10449513G>A	ExAC,gnomAD
rs1197360854	p.Ser623Tyr	missense variant	-	NC_000023.11:g.10449504G>T	gnomAD
RCV000011555	p.Leu626Pro	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449495A>G	ClinVar
rs28934611	p.Leu626Pro	missense variant	-	NC_000023.11:g.10449495A>G	-
rs28934611	p.Leu626Pro	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10449495A>G	UniProt,dbSNP
VAR_013762	p.Leu626Pro	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10449495A>G	UniProt
rs772922068	p.Leu626Phe	missense variant	-	NC_000023.11:g.10449496G>A	ExAC,gnomAD
RCV000659858	p.Tyr627Ter	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449491G>T	ClinVar
rs1556001856	p.Tyr627Ter	stop gained	-	NC_000023.11:g.10449491G>T	-
rs769182755	p.Thr628Asn	missense variant	-	NC_000023.11:g.10449489G>T	ExAC,gnomAD
rs150291968	p.Asp630Asn	missense variant	-	NC_000023.11:g.10449484C>T	ESP,TOPMed
rs150291968	p.Asp630Asn	missense variant	-	chrX:g.10449484C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000780411	p.Asp630Asn	missense variant	-	NC_000023.11:g.10449484C>T	ClinVar
rs769324197	p.Val631Phe	missense variant	-	NC_000023.11:g.10449481C>A	ExAC,TOPMed,gnomAD
rs769324197	p.Val631Ile	missense variant	-	NC_000023.11:g.10449481C>T	ExAC,TOPMed,gnomAD
rs769324197	p.Val631Ile	missense variant	-	chrX:g.10449481C>T	NCI-TCGA,NCI-TCGA Cosmic
rs747547954	p.Ala632Thr	missense variant	-	NC_000023.11:g.10449478C>T	ExAC,TOPMed,gnomAD
rs747547954	p.Ala632Ser	missense variant	-	NC_000023.11:g.10449478C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe633Cys	missense variant	-	chrX:g.10449474A>C	NCI-TCGA
rs944621690	p.Ala634Val	missense variant	-	NC_000023.11:g.10449471G>A	TOPMed
COSM1112363	p.Ala634Val	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10449471G>A	NCI-TCGA Cosmic
rs758806928	p.Gln635Arg	missense variant	-	NC_000023.11:g.10449468T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln635Lys	missense variant	-	chrX:g.10449469G>T	NCI-TCGA
rs746014431	p.Cys638Trp	missense variant	-	NC_000023.11:g.10449458G>C	ExAC,gnomAD
rs1333314044	p.Pro639Ser	missense variant	-	NC_000023.11:g.10449457G>A	gnomAD
rs779265828	p.Pro639Leu	missense variant	-	NC_000023.11:g.10449456G>A	ExAC,gnomAD
RCV000754789	p.Thr640Ter	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449458del	ClinVar
NCI-TCGA novel	p.Trp644Ter	stop gained	-	chrX:g.10449441C>T	NCI-TCGA
rs757315836	p.Lys646Arg	missense variant	-	NC_000023.11:g.10449435T>C	ExAC,TOPMed,gnomAD
rs757315836	p.Lys646Met	missense variant	-	NC_000023.11:g.10449435T>A	ExAC,TOPMed,gnomAD
COSM1569796	p.Thr649Met	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10449426G>A	NCI-TCGA Cosmic
rs1341135609	p.Ile650Thr	missense variant	-	NC_000023.11:g.10449423A>G	TOPMed
NCI-TCGA novel	p.Ile650Ser	missense variant	-	chrX:g.10449423A>C	NCI-TCGA
NCI-TCGA novel	p.Thr652Asn	missense variant	-	chrX:g.10449417G>T	NCI-TCGA
rs371705269	p.Ile656Val	missense variant	-	NC_000023.11:g.10449406T>C	ESP,ExAC,TOPMed
NCI-TCGA novel	p.Asp658Gly	missense variant	-	chrX:g.10449399T>C	NCI-TCGA
rs751510252	p.His659Tyr	missense variant	-	NC_000023.11:g.10449397G>A	ExAC,TOPMed,gnomAD
rs767075372	p.Asp661Glu	missense variant	-	NC_000023.11:g.10449389G>C	1000Genomes,ExAC,gnomAD
rs138558359	p.Thr663Ile	missense variant	-	NC_000023.11:g.10449384G>A	ESP,ExAC,TOPMed,gnomAD
RCV000078679	p.Thr663Ile	missense variant	-	NC_000023.11:g.10449384G>A	ClinVar
rs1438198955	p.Gln665His	missense variant	-	NC_000023.11:g.10449377C>G	gnomAD
NCI-TCGA novel	p.Gln665Lys	missense variant	-	chrX:g.10449379G>T	NCI-TCGA
rs147106995	p.Pro667Leu	missense variant	-	NC_000023.11:g.10449372G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000659859	p.Pro667Leu	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449372G>A	ClinVar
rs1556004400	p.Gln454Arg	missense variant	-	NC_000023.11:g.10459732T>C	-

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0003466	Anus, Imperforate	disease	HPO
C0008073	Developmental Disabilities	group	BEFREE
C0008924	Cleft upper lip	disease	HPO
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010417	Cryptorchidism	disease	HPO
C0011168	Deglutition Disorders	group	HPO
C0014850	Esophageal Atresia	disease	HPO
C0017168	Gastroesophageal reflux disease	disease	HPO
C0018798	Congenital Heart Defects	group	BEFREE;HPO
C0018834	Heartburn	phenotype	HPO
C0020534	Orbital separation excessive	phenotype	HPO
C0024115	Lung diseases	group	BEFREE
C0026010	Microphthalmos	disease	MGD
C0029463	Osteosarcoma	disease	BEFREE
C0040588	Tracheoesophageal Fistula	phenotype	HPO
C0152013	Adenocarcinoma of lung (disorder)	disease	BEFREE
C0152021	Congenital heart disease	group	HPO
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0175696	Congenital cleft larynx and Opitz-Frias syndrome	disease	CLINGEN;CLINVAR
C0175754	Agenesis of corpus callosum	disease	HPO
C0220810	Congenital defects	group	BEFREE
C0221354	Frontal bossing	disease	HPO
C0240635	Byzanthine arch palate	disease	HPO
C0341106	Eosinophilic esophagitis	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0423113	Telecanthus	phenotype	HPO
C0557874	Global developmental delay	disease	BEFREE;HPO
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0700198	Pulmonary aspiration	phenotype	HPO
C0848558	Hypospadias	group	HPO
C1142533	Smooth philtrum	phenotype	HPO
C1527249	Colorectal Cancer	disease	BEFREE
C1611184	Calcification of coronary artery	phenotype	GWASDB
C1691215	Penile hypospadias	disease	BEFREE;HPO
C1801950	Opitz-G syndrome, type 2	disease	BEFREE;MGD
C1837260	Prominent forehead	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1848389	Posterior pharyngeal cleft	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1853486	Widow's peak	disease	HPO
C1861028	Esophageal atresia with or without tracheoesophageal fistula	disease	CTD_human
C1864897	Cognitive delay	phenotype	HPO
C1865017	Thin upper lip vermilion	phenotype	HPO
C1867446	Bulging forehead	phenotype	HPO
C2712334	Actual Aspiration	phenotype	HPO
C2936904	Opitz GBBB Syndrome, X-Linked	disease	BEFREE;CLINGEN;CTD_human;MGD;ORPHANET;UNIPROT
C2981150	Uranostaphyloschisis	disease	HPO
C3714756	Intellectual Disability	group	BEFREE;GENOMICS_ENGLAND
C4020875	Mental and motor retardation	phenotype	HPO
C4025750	Abnormality of the nasopharynx	phenotype	HPO
C4317146	Acid reflux	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0008017	microtubule binding	IMP
GO:0008270	zinc ion binding	IEA
GO:0016740	transferase activity	IEA
GO:0019899	enzyme binding	IPI
GO:0031625	ubiquitin protein ligase binding	IPI
GO:0042802	identical protein binding	IPI
GO:0042803	protein homodimerization activity	IDA
GO:0051219	phosphoprotein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000226	microtubule cytoskeleton organization	TAS
GO:0007026	negative regulation of microtubule depolymerization	IEA
GO:0007389	pattern specification process	TAS
GO:0032874	positive regulation of stress-activated MAPK cascade	IMP
GO:0035372	protein localization to microtubule	IMP
GO:0060333	interferon-gamma-mediated signaling pathway	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005819	spindle	IEA
GO:0005829	cytosol	TAS
GO:0005874	microtubule	IDA
GO:0005875	microtubule associated complex	TAS
GO:0005881	cytoplasmic microtubule	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1280215	Cytokine Signaling in Immune system	TAS
R-HSA-168256	Immune System	TAS
R-HSA-877300	Interferon gamma signaling	TAS
R-HSA-913531	Interferon Signaling	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of MID1 mRNA	29432896
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in decreased expression of MID1 mRNA	25614096
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of MID1 mRNA	19114083
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene results in decreased expression of MID1 mRNA	20406850
C583074	4,4'-hexafluorisopropylidene diphenol	4,4'-hexafluorisopropylidene diphenol results in increased expression of MID1 mRNA	27567155
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MID1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MID1 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 MID1 mRNA	20382639
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of MID1 mRNA	19150397
D020106	Acrylamide	Acrylamide results in decreased expression of MID1 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of MID1 mRNA	21641981; 22100608;
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of MID1 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of MID1 intron	30157460
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of MID1 mRNA	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of MID1 mRNA	24449571
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in decreased expression of MID1 mRNA	29523930
D001280	Atrazine	Atrazine results in decreased expression of MID1 mRNA	26518232
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the expression of MID1 mRNA	25690898
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MID1 mRNA	20106945; 21632981; 22316170;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MID1 mRNA	22228805
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of MID1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased methylation of MID1 intron	30906313
C006780	bisphenol A	bisphenol A results in decreased methylation of MID1 promoter	27312807
D002220	Carbamazepine	Carbamazepine affects the expression of MID1 mRNA	25979313
C010063	carbonyl sulfide	carbonyl sulfide results in increased expression of MID1 mRNA	19395590
C074702	chromium hexavalent ion	chromium hexavalent ion results in decreased expression of MID1 mRNA	30690063
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of MID1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of MID1 mRNA	22023808
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of MID1 mRNA	19376846
D019327	Copper Sulfate	Copper Sulfate results in increased expression of MID1 mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in decreased expression of MID1 mRNA	20106945; 27989131;
D003999	Dichloroacetic Acid	Dichloroacetic Acid results in increased expression of MID1 mRNA	28962523
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MID1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MID1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of MID1 mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of MID1 mRNA	29391264
C045651	epigallocatechin gallate	epigallocatechin gallate results in increased expression of MID1 mRNA	22079256
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of MID1 mRNA	22079256
D004958	Estradiol	Estradiol affects the expression of MID1 mRNA	22574217
D004958	Estradiol	Estradiol results in increased expression of MID1 mRNA	21185374
D004958	Estradiol	Raloxifene Hydrochloride promotes the reaction [Estradiol results in increased expression of MID1 mRNA]	21185374
D000431	Ethanol	Ethanol results in decreased expression of MID1 mRNA	29018328
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of MID1 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of MID1 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of MID1 mRNA	23129252
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of MID1 mRNA	29432896
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of MID1 mRNA	29432896
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of MID1 mRNA	20044591
C031927	hydroquinone	hydroquinone results in decreased expression of MID1 mRNA	31256213
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of MID1 mRNA	27392435
C008261	lead acetate	lead acetate results in increased expression of MID1 mRNA	20542052
D058185	Magnetite Nanoparticles	[Succimer co-treated with Magnetite Nanoparticles] results in increased expression of MID1 mRNA	26378955
D008345	Manganese	Manganese results in decreased expression of MID1 mRNA	23976782
D008345	Manganese	Manganese results in increased methylation of MID1 promoter	23976782
D008701	Methapyrilene	Methapyrilene results in decreased expression of MID1 mRNA	30467583
D008713	Methimazole	Methimazole results in decreased expression of MID1 mRNA	25539664
D008748	Methylcholanthrene	Methylcholanthrene results in decreased expression of MID1 mRNA	20713471
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of MID1 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of MID1 mRNA	23649840
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of MID1 mRNA	25620056
D009532	Nickel	Nickel results in decreased expression of MID1 mRNA	24768652; 25583101;
C029938	nickel sulfate	nickel sulfate results in decreased expression of MID1 mRNA	22714537
D009966	Orphenadrine	Orphenadrine affects the expression of MID1 mRNA	23665939
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of MID1 mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in increased expression of MID1 mRNA	25729387
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of MID1 mRNA	29432896
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of MID1 mRNA	29432896
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MID1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of MID1 mRNA	26272509
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of MID1 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of MID1 mRNA	29432896
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of MID1 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of MID1 mRNA	22079256; 22714537;
D011374	Progesterone	Progesterone results in decreased expression of MID1 mRNA	21795739
D011441	Propylthiouracil	Propylthiouracil results in increased expression of MID1 mRNA	24780913
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride promotes the reaction [Estradiol results in increased expression of MID1 mRNA]	21185374
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of MID1 mRNA	23806026
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of MID1 mRNA	25351596
D004113	Succimer	[Succimer co-treated with Magnetite Nanoparticles] results in increased expression of MID1 mRNA	26378955
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of MID1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of MID1 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of MID1 mRNA	16922920
D013849	Thimerosal	Thimerosal results in decreased expression of MID1 mRNA	24675092
C009495	titanium dioxide	titanium dioxide results in decreased expression of MID1 mRNA	27760801
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of MID1 mRNA	28065790
D014028	Tobacco Smoke Pollution	[AGER gene results in increased susceptibility to Tobacco Smoke Pollution] which results in decreased expression of MID1 mRNA	30659203
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of MID1 mRNA	25729387
D019772	Topotecan	Topotecan results in increased expression of MID1 mRNA	25729387
D014118	Toxins, Biological	Toxins, Biological affects the expression of MID1 mRNA	19682533
C012589	trichostatin A	trichostatin A results in increased expression of MID1 mRNA	24935251
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of MID1 mRNA	26179874
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MID1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of MID1 mRNA	23179753; 25979313;
D014635	Valproic Acid	Valproic Acid results in decreased expression of MID1 mRNA	24383497; 24935251; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of MID1 mRNA	24935251; 29154799;
D014638	Vanadates	Vanadates results in increased expression of MID1 mRNA	22714537
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of MID1 gene	25560391
C025643	vinclozolin	vinclozolin results in decreased expression of MID1 mRNA	22615374
D015032	Zinc	Zinc binds to MID1 protein	16529770
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of MID1 mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0175	Coiled coil
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0225	Disease mutation
KW-0479	Metal-binding
KW-0493	Microtubule
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0677	Repeat
KW-0808	Transferase
KW-0833	Ubl conjugation pathway
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR001870	B30.2/SPRY
IPR043136	B30.2/SPRY_sf
IPR003649	Bbox_C
IPR003879	Butyrophylin_SPRY
IPR013320	ConA-like_dom_sf
IPR017903	COS_domain
IPR003961	FN3_dom
IPR036116	FN3_sf
IPR013783	Ig-like_fold
IPR027727	MID1
IPR040859	Midline-1_COS
IPR006574	PRY
IPR003877	SPRY_dom
IPR027370	Znf-RING_LisH
IPR000315	Znf_B-box
IPR001841	Znf_RING
IPR013083	Znf_RING/FYVE/PHD
IPR017907	Znf_RING_CS

PROSITE

PROSITE ID	PROSITE Term
PS50188	B302_SPRY
PS51262	COS
PS50853	FN3
PS50119	ZF_BBOX
PS00518	ZF_RING_1
PS50089	ZF_RING_2

Pfam

Pfam ID	Pfam Term
PF18568	COS
PF00041	fn3
PF13765	PRY
PF00622	SPRY
PF00643	zf-B_box
PF13445	zf-RING_UBOX

Gene: MID1

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