CleftGeneDB-Search

Gene: SATB2

Basic information

Tag	Content
Uniprot ID	Q9UPW6; A8K5Z8; Q3ZB87; Q4V763;
Entrez ID	23314
Genbank protein ID	AAH98136.1; AAH99723.1; AAI03493.1; BAA82986.1; AAI03501.1; EAW70180.1; BAF84152.1;
Genbank nucleotide ID	XM_006712372.2; NM_015265.3; NM_001172509.1; XM_011510840.2; NM_001172517.1;
Ensembl protein ID	ENSP00000405420; ENSP00000260926; ENSP00000401112; ENSP00000483287; ENSP00000388581;
Ensembl nucleotide ID	ENSG00000119042
Gene name	DNA-binding protein SATB2
Gene symbol	SATB2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26868259; 16641627; 16953426;
Functional description	Binds to DNA, at nuclear matrix- or scaffold-associated regions. Thought to recognize the sugar-phosphate structure of double-stranded DNA. Transcription factor controlling nuclear gene expression, by binding to matrix attachment regions (MARs) of DNA and inducing a local chromatin-loop remodeling. Acts as a docking site for several chromatin remodeling enzymes and also by recruiting corepressors (HDACs) or coactivators (HATs) directly to promoters and enhancers. Required for the initiation of the upper-layer neurons (UL1) specific genetic program and for the inactivation of deep-layer neurons (DL) and UL2 specific genes, probably by modulating BCL11B expression. Repressor of Ctip2 and regulatory determinant of corticocortical connections in the developing cerebral cortex. May play an important role in palate formation. Acts as a molecular node in a transcriptional network regulating skeletal development and osteoblast differentiation.
Sequence	MERRSESPCL RDSPDRRSGS PDVKGPPPVK VARLEQNGSP MGARGRPNGA VAKAVGGLMI 60 PVFCVVEQLD GSLEYDNREE HAEFVLVRKD VLFSQLVETA LLALGYSHSS AAQAQGIIKL 120 GRWNPLPLSY VTDAPDATVA DMLQDVYHVV TLKIQLQSCS KLEDLPAEQW NHATVRNALK 180 ELLKEMNQST LAKECPLSQS MISSIVNSTY YANVSATKCQ EFGRWYKKYK KIKVERVERE 240 NLSDYCVLGQ RPMHLPNMNQ LASLGKTNEQ SPHSQIHHST PIRNQVPALQ PIMSPGLLSP 300 QLSPQLVRQQ IAMAHLINQQ IAVSRLLAHQ HPQAINQQFL NHPPIPRAVK PEPTNSSVEV 360 SPDIYQQVRD ELKRASVSQA VFARVAFNRT QGLLSEILRK EEDPRTASQS LLVNLRAMQN 420 FLNLPEVERD RIYQDERERS MNPNVSMVSS ASSSPSSSRT PQAKTSTPTT DLPIKVDGAN 480 INITAAIYDE IQQEMKRAKV SQALFAKVAA NKSQGWLCEL LRWKENPSPE NRTLWENLCT 540 IRRFLNLPQH ERDVIYEEES RHHHSERMQH VVQLPPEPVQ VLHRQQSQPA KESSPPREEA 600 PPPPPPTEDS CAKKPRSRTK ISLEALGILQ SFIHDVGLYP DQEAIHTLSA QLDLPKHTII 660 KFFQNQRYHV KHHGKLKEHL GSAVDVAEYK DEELLTESEE NDSEEGSEEM YKVEAEEENA 720 DKSKAAPAEI DQR 733

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1WI3
1WIZ
2CSF
1WI3
1WIZ

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	SATB2	102171018	A0A452FN88			Capra hircus	Prediction	More>>
1:1 ortholog	SATB2	23314	Q9UPW6			Homo sapiens	Publication	More>>
1:1 ortholog	Satb2	212712	Q8VI24	CPO	E12.5, E14.25, E13.5, E14.5, E16.5	Mus musculus	Publication	More>>
1:1 ortholog	SATB2	459856	A0A2I3SX19			Pan troglodytes	Prediction	More>>
1:1 ortholog	SATB2		I3LRU7			Sus scrofa	Prediction	More>>
1:1 ortholog	SATB2	100351405	G1SXR2			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Satb2	501145	D3ZJ19			Rattus norvegicus	Prediction	More>>
1:1 ortholog	satb2	563435	A8WIP9			Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
SATB2	p.Arg239* and p.Asp702Thrfs*38 (compund heterozygous)	Direct sequencing; TDT	30848049
SATB2	c.1285G>A; p.R429*	Direct sequencing; TDT	29739092
SATB2	rs994185	Genotyping	16641627

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000578907	p.Met1Val	missense variant	-	NC_000002.12:g.199456037T>C	ClinVar
rs1463296675	p.Arg4Gln	missense variant	-	NC_000002.12:g.199456027C>T	gnomAD
rs1434320727	p.Glu6Lys	missense variant	-	NC_000002.12:g.199456022C>T	gnomAD
RCV000519084	p.Ser7Ter	frameshift	-	NC_000002.12:g.199456019dup	ClinVar
RCV000709933	p.Ser7Ter	frameshift	SATB2-Related Disorder	NC_000002.12:g.199456019dup	ClinVar
rs1361158169	p.Cys9Arg	missense variant	-	NC_000002.12:g.199456013A>G	TOPMed
rs1209144312	p.Cys9Ser	missense variant	-	NC_000002.12:g.199456012C>G	gnomAD
rs1282358129	p.Asp12Asn	missense variant	-	NC_000002.12:g.199456004C>T	gnomAD
rs1295030903	p.Arg16Gln	missense variant	-	NC_000002.12:g.199455991C>T	gnomAD
rs747894251	p.Ser18Arg	missense variant	-	NC_000002.12:g.199455984G>T	ExAC,gnomAD
rs1405630119	p.Asp22Glu	missense variant	-	NC_000002.12:g.199455972G>T	TOPMed,gnomAD
rs1176416627	p.Lys24Arg	missense variant	-	NC_000002.12:g.199455967T>C	TOPMed,gnomAD
rs1473042227	p.Pro26Ala	missense variant	-	NC_000002.12:g.199455962G>C	gnomAD
rs989025045	p.Pro27Ser	missense variant	-	NC_000002.12:g.199455959G>A	TOPMed
rs1367686940	p.Pro28Leu	missense variant	-	NC_000002.12:g.199455955G>A	gnomAD
RCV000394237	p.Pro28Ter	frameshift	-	NC_000002.12:g.199455959del	ClinVar
rs1176548430	p.Lys30Asn	missense variant	-	NC_000002.12:g.199455948C>A	TOPMed
rs1461281024	p.Ala32Thr	missense variant	-	NC_000002.12:g.199455944C>T	gnomAD
rs1392839872	p.Arg33Trp	missense variant	-	NC_000002.12:g.199455941G>A	gnomAD
rs1165492597	p.Gln36His	missense variant	-	NC_000002.12:g.199455930C>G	gnomAD
rs1458922428	p.Gly38Ser	missense variant	-	NC_000002.12:g.199455926C>T	gnomAD
rs1208341343	p.Ser39Asn	missense variant	-	NC_000002.12:g.199455922C>T	gnomAD
rs1191904885	p.Pro40Ser	missense variant	-	NC_000002.12:g.199455920G>A	gnomAD
rs919635073	p.Met41Val	missense variant	-	NC_000002.12:g.199455917T>C	TOPMed,gnomAD
rs1064793947	p.Gly42Ter	stop gained	-	NC_000002.12:g.199455914C>A	-
RCV000486598	p.Gly42Ter	nonsense	-	NC_000002.12:g.199455914C>A	ClinVar
rs1249539770	p.Ala43Thr	missense variant	-	NC_000002.12:g.199455911C>T	TOPMed,gnomAD
rs1467878282	p.Asn48Ser	missense variant	-	NC_000002.12:g.199455895T>C	gnomAD
rs1188890432	p.Asn48Asp	missense variant	-	NC_000002.12:g.199455896T>C	gnomAD
rs540871216	p.Val51Met	missense variant	-	NC_000002.12:g.199455887C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000762309	p.Ala52Val	missense variant	-	NC_000002.12:g.199455883G>A	ClinVar
rs1357016064	p.Ala52Val	missense variant	-	NC_000002.12:g.199455883G>A	TOPMed,gnomAD
rs1446614613	p.Ala54Ser	missense variant	-	NC_000002.12:g.199455878C>A	TOPMed
rs1226310700	p.Val55Ala	missense variant	-	NC_000002.12:g.199455874A>G	gnomAD
rs748892556	p.Val55Met	missense variant	-	NC_000002.12:g.199455875C>T	ExAC,TOPMed,gnomAD
rs748892556	p.Val55Leu	missense variant	-	NC_000002.12:g.199455875C>G	ExAC,TOPMed,gnomAD
rs1478238325	p.Met59Val	missense variant	-	NC_000002.12:g.199433509T>C	gnomAD
NCI-TCGA novel	p.Pro61Ser	missense variant	-	NC_000002.12:g.199433503G>A	NCI-TCGA
rs1064796649	p.Val62Asp	missense variant	-	NC_000002.12:g.199433499A>T	-
RCV000479021	p.Val62Asp	missense variant	-	NC_000002.12:g.199433499A>T	ClinVar
rs749125541	p.Val65Ile	missense variant	-	NC_000002.12:g.199433491C>T	ExAC,gnomAD
rs1252596825	p.Val66Met	missense variant	-	NC_000002.12:g.199433488C>T	gnomAD
rs745323861	p.Leu69Met	missense variant	-	NC_000002.12:g.199433479A>T	ExAC,TOPMed,gnomAD
rs756865617	p.Gly71Cys	missense variant	-	NC_000002.12:g.199433473C>A	ExAC,gnomAD
rs756865617	p.Gly71Ser	missense variant	-	NC_000002.12:g.199433473C>T	ExAC,gnomAD
COSM6089559	p.Gly71Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199433472C>A	NCI-TCGA Cosmic
rs753249521	p.Ser72Pro	missense variant	-	NC_000002.12:g.199433470A>G	ExAC,gnomAD
rs755238845	p.Ser72Cys	missense variant	-	NC_000002.12:g.199433469G>C	ExAC,gnomAD
rs755238845	p.Ser72Tyr	missense variant	-	NC_000002.12:g.199433469G>T	ExAC,gnomAD
COSM6089560	p.Ser72Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199433469G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu74Gln	missense variant	-	NC_000002.12:g.199433464C>G	NCI-TCGA
rs750686286	p.Tyr75Cys	missense variant	-	NC_000002.12:g.199433460T>C	ExAC,gnomAD
rs760905348	p.Tyr75His	missense variant	-	NC_000002.12:g.199433461A>G	ExAC,gnomAD
rs767582582	p.Arg78Lys	missense variant	-	NC_000002.12:g.199433451C>T	ExAC,gnomAD
COSM6089561	p.Arg78Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199433451C>G	NCI-TCGA Cosmic
COSM3425924	p.Ala82Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199433440C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu83Lys	missense variant	-	NC_000002.12:g.199433437C>T	NCI-TCGA
rs548822205	p.Phe84Val	missense variant	-	NC_000002.12:g.199433434A>C	1000Genomes
rs530118484	p.Arg88Gln	missense variant	-	NC_000002.12:g.199433421C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Arg88Gly	missense variant	-	NC_000002.12:g.199433422G>C	NCI-TCGA
rs769528257	p.Lys89Arg	missense variant	-	NC_000002.12:g.199433418T>C	ExAC,TOPMed,gnomAD
rs746334982	p.Leu92Pro	missense variant	-	NC_000002.12:g.199433409A>G	gnomAD
NCI-TCGA novel	p.Phe93LeuPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.199433405A>-	NCI-TCGA
rs1064795247	p.Leu96Arg	missense variant	-	NC_000002.12:g.199433397A>C	-
RCV000485845	p.Leu96Arg	missense variant	-	NC_000002.12:g.199433397A>C	ClinVar
NCI-TCGA novel	p.Leu96Pro	missense variant	-	NC_000002.12:g.199433397A>G	NCI-TCGA
COSM718602	p.Glu98Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199433390C>A	NCI-TCGA Cosmic
RCV000585548	p.Leu102Ter	frameshift	-	NC_000002.12:g.199433379del	ClinVar
COSM4844812	p.His108Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199433362G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.His108Gln	missense variant	-	NC_000002.12:g.199433360G>C	NCI-TCGA
rs1376331026	p.Ala111Val	missense variant	-	NC_000002.12:g.199433352G>A	gnomAD
rs1376331026	p.Ala111Val	missense variant	-	NC_000002.12:g.199433352G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala112Val	missense variant	-	NC_000002.12:g.199433349G>A	NCI-TCGA
RCV000760901	p.Gln113Ter	nonsense	-	NC_000002.12:g.199433347G>A	ClinVar
RCV000695069	p.Gln115Ter	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199433341G>A	ClinVar
rs1131691672	p.Gly116Arg	missense variant	-	NC_000002.12:g.199433338C>G	-
RCV000494383	p.Gly116Arg	missense variant	-	NC_000002.12:g.199433338C>G	ClinVar
rs1185687010	p.Lys119Asn	missense variant	-	NC_000002.12:g.199381810C>A	TOPMed
COSM6089562	p.Gly121Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.199381806C>A	NCI-TCGA Cosmic
rs1182083147	p.Arg122Thr	missense variant	-	NC_000002.12:g.199381802C>G	gnomAD
RCV000598591	p.Arg122Ter	nonsense	-	NC_000002.12:g.199381799del	ClinVar
NCI-TCGA novel	p.Asn124Ser	missense variant	-	NC_000002.12:g.199381796T>C	NCI-TCGA
NCI-TCGA novel	p.Leu126Val	missense variant	-	NC_000002.12:g.199381791G>C	NCI-TCGA
NCI-TCGA novel	p.Leu128SerPheSerTerUnk	frameshift	-	NC_000002.12:g.199381785G>-	NCI-TCGA
rs372822699	p.Tyr130Cys	missense variant	-	NC_000002.12:g.199381778T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr130His	missense variant	-	NC_000002.12:g.199381779A>G	NCI-TCGA
rs1064794638	p.Val131Glu	missense variant	-	NC_000002.12:g.199381775A>T	-
RCV000485195	p.Val131Glu	missense variant	-	NC_000002.12:g.199381775A>T	ClinVar
COSM6089563	p.Asp133Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199381770C>A	NCI-TCGA Cosmic
COSM284793	p.Asp136Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199381760T>C	NCI-TCGA Cosmic
rs746240750	p.Ala137Val	missense variant	-	NC_000002.12:g.199381757G>A	ExAC,TOPMed,gnomAD
rs1454219036	p.Ala137Thr	missense variant	-	NC_000002.12:g.199381758C>T	TOPMed
rs1401692784	p.Asp141Glu	missense variant	-	NC_000002.12:g.199381744G>T	gnomAD
NCI-TCGA novel	p.Asp141Asn	missense variant	-	NC_000002.12:g.199381746C>T	NCI-TCGA
rs764205432	p.Met142Ile	missense variant	-	NC_000002.12:g.199381741C>T	ExAC,gnomAD
rs751779659	p.Met142Val	missense variant	-	NC_000002.12:g.199381743T>C	ExAC,gnomAD
rs765278258	p.Val149Ala	missense variant	-	NC_000002.12:g.199381721A>G	ExAC,gnomAD
NCI-TCGA novel	p.Val150Ala	missense variant	-	NC_000002.12:g.199381718A>G	NCI-TCGA
rs1414878673	p.Thr151Met	missense variant	-	NC_000002.12:g.199381715G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ser158Gly	missense variant	-	NC_000002.12:g.199381695T>C	NCI-TCGA
COSM6089565	p.Cys159Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199380485C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser160Pro	missense variant	-	NC_000002.12:g.199380483A>G	NCI-TCGA
NCI-TCGA novel	p.Ser160Ter	stop gained	-	NC_000002.12:g.199380482G>T	NCI-TCGA
rs1360355424	p.Lys161Arg	missense variant	-	NC_000002.12:g.199380479T>C	gnomAD
RCV000479959	p.Lys161Ter	frameshift	-	NC_000002.12:g.199380481del	ClinVar
NCI-TCGA novel	p.Glu163Lys	missense variant	-	NC_000002.12:g.199380474C>T	NCI-TCGA
NCI-TCGA novel	p.Pro166His	missense variant	-	NC_000002.12:g.199380464G>T	NCI-TCGA
NCI-TCGA novel	p.Pro166LeuPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.199380464G>-	NCI-TCGA
rs767084945	p.Ala167Val	missense variant	-	NC_000002.12:g.199380461G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn171Asp	missense variant	-	NC_000002.12:g.199380450T>C	NCI-TCGA
NCI-TCGA novel	p.His172Gln	missense variant	-	NC_000002.12:g.199380445A>C	NCI-TCGA
NCI-TCGA novel	p.His172SerPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.199380447_199380448insGTTCCACTGCT	NCI-TCGA
rs1321695489	p.Arg176His	missense variant	-	NC_000002.12:g.199380434C>T	gnomAD
rs1367792848	p.Arg176Cys	missense variant	-	NC_000002.12:g.199380435G>A	gnomAD
rs773873672	p.Asn177Ser	missense variant	-	NC_000002.12:g.199380431T>C	ExAC,gnomAD
rs1370873507	p.Ala178Val	missense variant	-	NC_000002.12:g.199380428G>A	TOPMed
RCV000479790	p.Leu182Pro	missense variant	-	NC_000002.12:g.199380416A>G	ClinVar
rs1064795817	p.Leu182Pro	missense variant	-	NC_000002.12:g.199380416A>G	-
NCI-TCGA novel	p.Glu185Asp	missense variant	-	NC_000002.12:g.199380406C>A	NCI-TCGA
NCI-TCGA novel	p.Glu185Asp	missense variant	-	NC_000002.12:g.199380406C>G	NCI-TCGA
rs559652196	p.Asn187His	missense variant	-	NC_000002.12:g.199380402T>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Asn187Lys	missense variant	-	NC_000002.12:g.199380400G>C	NCI-TCGA
rs1391758713	p.Gln188Lys	missense variant	-	NC_000002.12:g.199380399G>T	gnomAD
COSM6089566	p.Gln188His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199380397C>A	NCI-TCGA Cosmic
RCV000521695	p.Thr190Ter	frameshift	-	NC_000002.12:g.199380393dup	ClinVar
rs1333077167	p.Thr190Ser	missense variant	-	NC_000002.12:g.199380393T>A	TOPMed,gnomAD
COSM1014618	p.Glu194Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.199380381C>A	NCI-TCGA Cosmic
COSM1404367	p.Glu194Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199380381C>T	NCI-TCGA Cosmic
COSM4090041	p.Cys195Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199380377C>T	NCI-TCGA Cosmic
COSM1014617	p.Met201Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199368702C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val206Ile	insertion	-	NC_000002.12:g.199368687_199368688insATC	NCI-TCGA
NCI-TCGA novel	p.Tyr210Ter	stop gained	-	NC_000002.12:g.199368675A>T	NCI-TCGA
NCI-TCGA novel	p.Tyr210Cys	missense variant	-	NC_000002.12:g.199368676T>C	NCI-TCGA
rs1371535617	p.Asn213Ser	missense variant	-	NC_000002.12:g.199368667T>C	TOPMed
rs777062011	p.Thr217Ile	missense variant	-	NC_000002.12:g.199368655G>A	ExAC,TOPMed,gnomAD
COSM3576147	p.Gln220Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199368646T>G	NCI-TCGA Cosmic
COSM718603	p.Gln220His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199368645C>G	NCI-TCGA Cosmic
RCV000760865	p.Trp225Ter	nonsense	-	NC_000002.12:g.199368631C>T	ClinVar
NCI-TCGA novel	p.Lys227Asn	missense variant	-	NC_000002.12:g.199368624T>G	NCI-TCGA
NCI-TCGA novel	p.Lys228Asn	missense variant	-	NC_000002.12:g.199368621C>A	NCI-TCGA
rs1194385939	p.Lys230Gln	missense variant	-	NC_000002.12:g.199368617T>G	gnomAD
RCV000646090	p.Ile232Thr	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199368610A>G	ClinVar
rs773467832	p.Ile232Thr	missense variant	-	NC_000002.12:g.199368610A>G	ExAC,gnomAD
rs1446810891	p.Glu235Gly	missense variant	-	NC_000002.12:g.199349170T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu235LysPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.199349171C>-	NCI-TCGA
NCI-TCGA novel	p.Arg236Lys	missense variant	-	NC_000002.12:g.199349167C>T	NCI-TCGA
rs1377492362	p.Val237Met	missense variant	-	NC_000002.12:g.199349165C>T	gnomAD
rs889085038	p.Arg239Gln	missense variant	-	NC_000002.12:g.199349158C>T	TOPMed
RCV000256175	p.Arg239Ter	nonsense	-	NC_000002.12:g.199349159G>A	ClinVar
RCV000002627	p.Arg239Ter	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349159G>A	ClinVar
rs137853127	p.Arg239Ter	stop gained	-	NC_000002.12:g.199349159G>A	-
rs763748099	p.Glu240Gly	missense variant	-	NC_000002.12:g.199349155T>C	ExAC,gnomAD
rs757833654	p.Asn241His	missense variant	-	NC_000002.12:g.199349153T>G	ExAC
NCI-TCGA novel	p.Leu242Val	insertion	-	NC_000002.12:g.199349148_199349149insACC	NCI-TCGA
rs766855879	p.Asp244Glu	missense variant	-	NC_000002.12:g.199349142G>C	ExAC,TOPMed,gnomAD
rs766855879	p.Asp244Glu	missense variant	-	NC_000002.12:g.199349142G>T	ExAC,TOPMed,gnomAD
RCV000646085	p.Asp244Glu	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349142G>T	ClinVar
rs761063743	p.Tyr245Asn	missense variant	-	NC_000002.12:g.199349141A>T	ExAC,gnomAD
rs762870757	p.Tyr245Ter	stop gained	-	NC_000002.12:g.199349139_199349140insC	ExAC
NCI-TCGA novel	p.Tyr245His	missense variant	-	NC_000002.12:g.199349141A>G	NCI-TCGA
rs372720155	p.Cys246Ser	missense variant	-	NC_000002.12:g.199349138A>T	ESP
rs773808099	p.Cys246Ser	missense variant	-	NC_000002.12:g.199349137C>G	ExAC,gnomAD
rs767767817	p.Val247Ile	missense variant	-	NC_000002.12:g.199349135C>T	ExAC,TOPMed,gnomAD
rs200620268	p.Leu248Arg	missense variant	-	NC_000002.12:g.199349131A>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000708552	p.Gln250Ter	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349126G>A	ClinVar
NCI-TCGA novel	p.Gln250His	missense variant	-	NC_000002.12:g.199349124C>A	NCI-TCGA
rs1239435557	p.Arg251Cys	missense variant	-	NC_000002.12:g.199349123G>A	gnomAD
NCI-TCGA novel	p.Arg251His	missense variant	-	NC_000002.12:g.199349122C>T	NCI-TCGA
rs769032202	p.Pro252Ala	missense variant	-	NC_000002.12:g.199349120G>C	ExAC,gnomAD
rs775411126	p.Met253Val	missense variant	-	NC_000002.12:g.199349117T>C	ExAC,gnomAD
rs1318103404	p.Met253Ile	missense variant	-	NC_000002.12:g.199349115C>T	gnomAD
rs1027097947	p.His254Arg	missense variant	-	NC_000002.12:g.199349113T>C	TOPMed
NCI-TCGA novel	p.His254Tyr	missense variant	-	NC_000002.12:g.199349114G>A	NCI-TCGA
rs1000649173	p.Asn257Lys	missense variant	-	NC_000002.12:g.199349103A>C	TOPMed,gnomAD
rs200074373	p.Met258Val	missense variant	-	NC_000002.12:g.199349102T>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM1014614	p.Ala262Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199349090C>T	NCI-TCGA Cosmic
COSM1404366	p.Ala262Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199349089G>A	NCI-TCGA Cosmic
rs12619995	p.Ser263Pro	missense variant	-	NC_000002.12:g.199349087A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser263Tyr	missense variant	-	NC_000002.12:g.199349086G>T	NCI-TCGA
NCI-TCGA novel	p.Ser263LysLeuTrpThrLys	insertion	-	NC_000002.12:g.199349084_199349085insCTTAGTCCACAACTT	NCI-TCGA
NCI-TCGA novel	p.Leu264Pro	missense variant	-	NC_000002.12:g.199349083A>G	NCI-TCGA
rs1364150345	p.Lys266Arg	missense variant	-	NC_000002.12:g.199349077T>C	TOPMed,gnomAD
rs1410113037	p.Thr267Ala	missense variant	-	NC_000002.12:g.199349075T>C	TOPMed
NCI-TCGA novel	p.Thr267Asn	missense variant	-	NC_000002.12:g.199349074G>T	NCI-TCGA
rs1399958038	p.Glu269Lys	missense variant	-	NC_000002.12:g.199349069C>T	TOPMed
RCV000623347	p.Gln270Ter	frameshift	Inborn genetic diseases	NC_000002.12:g.199349066_199349067del	ClinVar
COSM6089567	p.Gln270His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199349064C>A	NCI-TCGA Cosmic
COSM1685903	p.Pro272Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199349059G>A	NCI-TCGA Cosmic
rs995750176	p.Gln275His	missense variant	-	NC_000002.12:g.199349049T>G	gnomAD
rs1403689000	p.His278Gln	missense variant	-	NC_000002.12:g.199349040G>C	gnomAD
rs758064649	p.Ser279Cys	missense variant	-	NC_000002.12:g.199349039T>A	ExAC,gnomAD
rs758064649	p.Ser279Gly	missense variant	-	NC_000002.12:g.199349039T>C	ExAC,gnomAD
rs752392251	p.Pro281Ser	missense variant	-	NC_000002.12:g.199349033G>A	ExAC,gnomAD
rs752392251	p.Pro281Ala	missense variant	-	NC_000002.12:g.199349033G>C	ExAC,gnomAD
rs797044874	p.Arg283Ter	stop gained	-	NC_000002.12:g.199349027G>A	-
RCV000686152	p.Arg283Ter	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349027G>A	ClinVar
RCV000254800	p.Arg283Ter	nonsense	-	NC_000002.12:g.199349027G>A	ClinVar
RCV000190685	p.Arg283Ter	nonsense	Inborn genetic diseases	NC_000002.12:g.199349027G>A	ClinVar
rs754582487	p.Arg283Gln	missense variant	-	NC_000002.12:g.199349026C>T	ExAC,gnomAD
RCV000760767	p.Gln285Ter	nonsense	-	NC_000002.12:g.199349021G>A	ClinVar
rs1190937317	p.Val286Ala	missense variant	-	NC_000002.12:g.199349017A>G	gnomAD
rs768080548	p.Pro287Ser	missense variant	-	NC_000002.12:g.199349015G>A	ExAC,gnomAD
RCV000646088	p.Ala288Thr	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349012C>T	ClinVar
rs142825652	p.Ala288Thr	missense variant	-	NC_000002.12:g.199349012C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala288Ser	missense variant	-	NC_000002.12:g.199349012C>A	NCI-TCGA
rs1057518496	p.Gln290Ter	stop gained	-	NC_000002.12:g.199349006G>A	-
RCV000413829	p.Gln290Ter	nonsense	-	NC_000002.12:g.199349006G>A	ClinVar
COSM6156078	p.Gln290Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199349005T>A	NCI-TCGA Cosmic
RCV000624904	p.Gln290Ter	nonsense	Inborn genetic diseases	NC_000002.12:g.199349006G>A	ClinVar
rs763241238	p.Met293Val	missense variant	-	NC_000002.12:g.199348997T>C	ExAC,gnomAD
rs79794576	p.Met293Ile	missense variant	-	NC_000002.12:g.199348995C>T	1000Genomes,TOPMed
NCI-TCGA novel	p.Met293Thr	missense variant	-	NC_000002.12:g.199348996A>G	NCI-TCGA
rs775852251	p.Ser294Asn	missense variant	-	NC_000002.12:g.199348993C>T	ExAC
rs759677622	p.Leu297Phe	missense variant	-	NC_000002.12:g.199348985G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu297AsnAlaThr	insertion	-	NC_000002.12:g.199348983_199348984insGTGGCATTC	NCI-TCGA
RCV000520556	p.Ser299Ter	frameshift	-	NC_000002.12:g.199348981del	ClinVar
COSM1306274	p.Ser299Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199348978G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu302His	missense variant	-	NC_000002.12:g.199348969A>T	NCI-TCGA
rs1215347266	p.Ser303Asn	missense variant	-	NC_000002.12:g.199348966C>T	TOPMed
rs746753960	p.Ala312Val	missense variant	-	NC_000002.12:g.199348939G>A	ExAC,gnomAD
COSM1014613	p.Ala314Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199348934C>T	NCI-TCGA Cosmic
rs1368984135	p.Gln320His	missense variant	-	NC_000002.12:g.199348914C>A	gnomAD
NCI-TCGA novel	p.Ala322Val	missense variant	-	NC_000002.12:g.199348909G>A	NCI-TCGA
rs778684147	p.Val323Ile	missense variant	-	NC_000002.12:g.199348907C>T	ExAC,gnomAD
RCV000691713	p.Arg325Gln	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348900C>T	ClinVar
rs1424984467	p.Gln333Glu	missense variant	-	NC_000002.12:g.199348877G>C	gnomAD
rs1424984467	p.Gln333Ter	stop gained	-	NC_000002.12:g.199348877G>A	gnomAD
RCV000599413	p.Gln333Ter	nonsense	-	NC_000002.12:g.199348877G>A	ClinVar
RCV000646089	p.Ala334Thr	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348874C>T	ClinVar
rs754385480	p.Ala334Thr	missense variant	-	NC_000002.12:g.199348874C>T	ExAC,TOPMed,gnomAD
rs1481732485	p.Ala334Asp	missense variant	-	NC_000002.12:g.199348873G>T	gnomAD
rs1222623089	p.Gln338Glu	missense variant	-	NC_000002.12:g.199348862G>C	gnomAD
rs753421853	p.Pro344Ser	missense variant	-	NC_000002.12:g.199348844G>A	ExAC,gnomAD
rs1180112158	p.Ile345Val	missense variant	-	NC_000002.12:g.199348841T>C	gnomAD
rs757817590	p.Arg347Lys	missense variant	-	NC_000002.12:g.199348834C>T	ExAC,gnomAD
COSM3576143	p.Pro351Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199348822G>A	NCI-TCGA Cosmic
COSM1014612	p.Glu352Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199348818C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu352ArgPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.199348820_199348821insT	NCI-TCGA
rs764552856	p.Thr354Ala	missense variant	-	NC_000002.12:g.199348814T>C	ExAC,gnomAD
rs1283962528	p.Asn355Thr	missense variant	-	NC_000002.12:g.199348810T>G	TOPMed,gnomAD
rs1283962528	p.Asn355Ile	missense variant	-	NC_000002.12:g.199348810T>A	TOPMed,gnomAD
COSM6089568	p.Ser356Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199348807G>T	NCI-TCGA Cosmic
rs1409295633	p.Ser357Phe	missense variant	-	NC_000002.12:g.199348804G>A	gnomAD
rs765504446	p.Val358Met	missense variant	-	NC_000002.12:g.199348802C>T	ExAC,gnomAD
rs765504446	p.Val358Leu	missense variant	-	NC_000002.12:g.199348802C>G	ExAC,gnomAD
COSM337097	p.Val358Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199348801A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val358Leu	missense variant	-	NC_000002.12:g.199348802C>A	NCI-TCGA
rs369487539	p.Pro362Ala	missense variant	-	NC_000002.12:g.199348790G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro362Ser	missense variant	-	NC_000002.12:g.199348790G>A	NCI-TCGA
COSM4844904	p.Gln366Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.199348778G>A	NCI-TCGA Cosmic
rs1183863165	p.Asp370Glu	missense variant	-	NC_000002.12:g.199348764A>T	gnomAD
NCI-TCGA novel	p.Arg374Met	missense variant	-	NC_000002.12:g.199348753C>A	NCI-TCGA
NCI-TCGA novel	p.Ser376Ile	missense variant	-	NC_000002.12:g.199348747C>A	NCI-TCGA
RCV000209866	p.Ser378Ter	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348742_199348743AC[2]	ClinVar
NCI-TCGA novel	p.Ser378Phe	missense variant	-	NC_000002.12:g.199348741G>A	NCI-TCGA
RCV000708553	p.Val381Gly	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348732A>C	ClinVar
NCI-TCGA novel	p.Asn388Ser	missense variant	-	NC_000002.12:g.199348711T>C	NCI-TCGA
rs1247886882	p.Arg389His	missense variant	-	NC_000002.12:g.199348708C>T	gnomAD
RCV000623230	p.Arg389Cys	missense variant	Inborn genetic diseases	NC_000002.12:g.199348709G>A	ClinVar
RCV000199456	p.Thr390Ile	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348705G>A	ClinVar
rs863224917	p.Thr390Ile	missense variant	-	NC_000002.12:g.199348705G>A	-
NCI-TCGA novel	p.Thr390Ala	missense variant	-	NC_000002.12:g.199348706T>C	NCI-TCGA
RCV000708554	p.Gln391Ter	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348703G>A	ClinVar
rs1085308028	p.Gly392Glu	missense variant	-	NC_000002.12:g.199328909C>T	-
RCV000489186	p.Gly392Glu	missense variant	-	NC_000002.12:g.199328909C>T	ClinVar
RCV000708555	p.Glu396Gln	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328898C>G	ClinVar
rs1057518190	p.Arg399His	missense variant	-	NC_000002.12:g.199328888C>T	-
RCV000624362	p.Arg399Ter	frameshift	Inborn genetic diseases	NC_000002.12:g.199328888del	ClinVar
RCV000824998	p.Arg399His	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328888C>T	ClinVar
RCV000413401	p.Arg399His	missense variant	-	NC_000002.12:g.199328888C>T	ClinVar
NCI-TCGA novel	p.Arg399Leu	missense variant	-	NC_000002.12:g.199328888C>A	NCI-TCGA
rs1057519013	p.Lys400Glu	missense variant	-	NC_000002.12:g.199328886T>C	-
RCV000415356	p.Lys400Glu	missense variant	-	NC_000002.12:g.199328886T>C	ClinVar
rs1193806941	p.Pro404Ser	missense variant	-	NC_000002.12:g.199328874G>A	gnomAD
rs766601179	p.Pro404His	missense variant	-	NC_000002.12:g.199328873G>T	ExAC
COSM718605	p.Pro404Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199328874G>T	NCI-TCGA Cosmic
rs1432580321	p.Arg405Trp	missense variant	-	NC_000002.12:g.199328871G>A	gnomAD
rs756117282	p.Arg405Gln	missense variant	-	NC_000002.12:g.199328870C>T	ExAC,gnomAD
rs1187345550	p.Thr406Ile	missense variant	-	NC_000002.12:g.199328867G>A	TOPMed
NCI-TCGA novel	p.Ala407Val	missense variant	-	NC_000002.12:g.199328864G>A	NCI-TCGA
COSM1404364	p.Gln409Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199328858T>C	NCI-TCGA Cosmic
rs1171330843	p.Val413Ile	missense variant	-	NC_000002.12:g.199328847C>T	TOPMed
COSM3990966	p.Val413Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199328847C>A	NCI-TCGA Cosmic
rs1341868380	p.Arg416Lys	missense variant	-	NC_000002.12:g.199328837C>T	gnomAD
RCV000623479	p.Met418Arg	missense variant	Inborn genetic diseases	NC_000002.12:g.199328831A>C	ClinVar
rs1553547885	p.Met418Arg	missense variant	-	NC_000002.12:g.199328831A>C	-
COSM6156080	p.Gln419His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199328827C>A	NCI-TCGA Cosmic
COSM3576142	p.Asn420Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199328824A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe421Ile	missense variant	-	NC_000002.12:g.199328823A>T	NCI-TCGA
rs1375969185	p.Leu424Val	missense variant	-	NC_000002.12:g.199328814G>C	TOPMed
rs762673534	p.Pro425Ser	missense variant	-	NC_000002.12:g.199328811G>A	ExAC,gnomAD
rs775219160	p.Glu426Asp	missense variant	-	NC_000002.12:g.199328806T>G	ExAC,gnomAD
rs1306994967	p.Val427Leu	missense variant	-	NC_000002.12:g.199328805C>A	gnomAD
NCI-TCGA novel	p.Val427Glu	missense variant	-	NC_000002.12:g.199328804A>T	NCI-TCGA
rs886041516	p.Arg429Gln	missense variant	-	NC_000002.12:g.199328798C>T	-
rs886041847	p.Arg429Ter	stop gained	-	NC_000002.12:g.199328799G>A	TOPMed
RCV000307104	p.Arg429Ter	nonsense	-	NC_000002.12:g.199328799G>A	ClinVar
RCV000763469	p.Arg429Ter	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328799G>A	ClinVar
RCV000300452	p.Arg429Gln	missense variant	-	NC_000002.12:g.199328798C>T	ClinVar
RCV000708556	p.Arg429Gln	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328798C>T	ClinVar
rs769604856	p.Arg431Cys	missense variant	-	NC_000002.12:g.199328793G>A	ExAC,gnomAD
rs745320639	p.Arg431Leu	missense variant	-	NC_000002.12:g.199328792C>A	ExAC,TOPMed,gnomAD
rs745320639	p.Arg431His	missense variant	-	NC_000002.12:g.199328792C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln434Leu	missense variant	-	NC_000002.12:g.199328783T>A	NCI-TCGA
NCI-TCGA novel	p.Gln434Pro	missense variant	-	NC_000002.12:g.199328783T>G	NCI-TCGA
NCI-TCGA novel	p.Asp435Asn	missense variant	-	NC_000002.12:g.199328781C>T	NCI-TCGA
rs1480791365	p.Arg439Trp	missense variant	-	NC_000002.12:g.199328769G>A	TOPMed,gnomAD
RCV000715123	p.Arg439Ter	frameshift	History of neurodevelopmental disorder	NC_000002.12:g.199328773_199328776dup	ClinVar
rs1251222127	p.Ser440Asn	missense variant	-	NC_000002.12:g.199328765C>T	gnomAD
rs926443498	p.Met441Val	missense variant	-	NC_000002.12:g.199328763T>C	TOPMed,gnomAD
rs1294387707	p.Met441Thr	missense variant	-	NC_000002.12:g.199328762A>G	TOPMed
rs748680983	p.Pro443Thr	missense variant	-	NC_000002.12:g.199328757G>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro443Ser	missense variant	-	NC_000002.12:g.199328757G>A	NCI-TCGA
rs779346411	p.Asn444Ser	missense variant	-	NC_000002.12:g.199328753T>C	ExAC,gnomAD
rs749656722	p.Met447Thr	missense variant	-	NC_000002.12:g.199328744A>G	ExAC,gnomAD
rs1265520683	p.Met447Val	missense variant	-	NC_000002.12:g.199328745T>C	gnomAD
rs1323623166	p.Ser449Cys	missense variant	-	NC_000002.12:g.199328738G>C	gnomAD
rs1278503270	p.Ser450Leu	missense variant	-	NC_000002.12:g.199328735G>A	TOPMed,gnomAD
rs1210717946	p.Ala451Val	missense variant	-	NC_000002.12:g.199328732G>A	TOPMed
NCI-TCGA novel	p.Ser452Phe	missense variant	-	NC_000002.12:g.199328729G>A	NCI-TCGA
COSM1404363	p.Ser453Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199328726C>T	NCI-TCGA Cosmic
rs1235823852	p.Pro455Ser	missense variant	-	NC_000002.12:g.199328721G>A	TOPMed
RCV000625170	p.Arg459Ter	nonsense	Cleft palate, isolated (CPI)	NC_000002.12:g.199328709G>A	ClinVar
RCV000680089	p.Arg459Ter	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328709G>A	ClinVar
RCV000719613	p.Arg459Ter	nonsense	History of neurodevelopmental disorder	NC_000002.12:g.199328709G>A	ClinVar
rs1553547838	p.Arg459Ter	stop gained	-	NC_000002.12:g.199328709G>A	-
rs1329250891	p.Thr460Asn	missense variant	-	NC_000002.12:g.199328705G>T	gnomAD
rs756308951	p.Thr460Ala	missense variant	-	NC_000002.12:g.199328706T>C	ExAC,gnomAD
rs1451676503	p.Pro461Ala	missense variant	-	NC_000002.12:g.199328703G>C	gnomAD
COSM3838243	p.Gln462Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.199328700G>A	NCI-TCGA Cosmic
rs1024314266	p.Ala463Val	missense variant	-	NC_000002.12:g.199323957G>A	TOPMed,gnomAD
RCV000599501	p.Thr465Ter	frameshift	-	NC_000002.12:g.199323955dup	ClinVar
rs1402503767	p.Ser466Ala	missense variant	-	NC_000002.12:g.199323949A>C	TOPMed,gnomAD
rs780366664	p.Ser466Leu	missense variant	-	NC_000002.12:g.199323948G>A	ExAC,TOPMed,gnomAD
rs1402503767	p.Ser466Thr	missense variant	-	NC_000002.12:g.199323949A>T	TOPMed,gnomAD
rs746076990	p.Pro468Gln	missense variant	-	NC_000002.12:g.199323942G>T	ExAC,TOPMed,gnomAD
rs746076990	p.Pro468Leu	missense variant	-	NC_000002.12:g.199323942G>A	ExAC,TOPMed,gnomAD
rs770212471	p.Pro468Thr	missense variant	-	NC_000002.12:g.199323943G>T	ExAC,TOPMed,gnomAD
rs777720531	p.Thr470Ile	missense variant	-	NC_000002.12:g.199323936G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp471Tyr	missense variant	-	NC_000002.12:g.199323934C>A	NCI-TCGA
rs752719791	p.Leu472Phe	missense variant	-	NC_000002.12:g.199323931G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu472Ile	missense variant	-	NC_000002.12:g.199323931G>T	NCI-TCGA
rs765116524	p.Ile474Val	missense variant	-	NC_000002.12:g.199323925T>C	ExAC,TOPMed,gnomAD
rs765116524	p.Ile474Leu	missense variant	-	NC_000002.12:g.199323925T>G	ExAC,TOPMed,gnomAD
rs759458466	p.Val476Met	missense variant	-	NC_000002.12:g.199323919C>T	ExAC,gnomAD
rs765952558	p.Asp477Glu	missense variant	-	NC_000002.12:g.199323914G>C	ExAC,gnomAD
rs772617927	p.Ala479Thr	missense variant	-	NC_000002.12:g.199323910C>T	ExAC,TOPMed,gnomAD
COSM6089569	p.Ala479Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199323910C>A	NCI-TCGA Cosmic
rs201864116	p.Asn480Ser	missense variant	-	NC_000002.12:g.199323906T>C	ExAC,TOPMed,gnomAD
RCV000697845	p.Ile481Val	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199323904T>C	ClinVar
rs1302645769	p.Asn482Ser	missense variant	-	NC_000002.12:g.199323900T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Asn482Thr	missense variant	-	NC_000002.12:g.199323900T>G	NCI-TCGA
rs1367720345	p.Ile483Val	missense variant	-	NC_000002.12:g.199323898T>C	TOPMed,gnomAD
rs763448261	p.Ile487Val	missense variant	-	NC_000002.12:g.199323886T>C	ExAC,gnomAD
rs746239023	p.Glu490Lys	missense variant	-	NC_000002.12:g.199323877C>T	ExAC,gnomAD
rs781440499	p.Glu490Gly	missense variant	-	NC_000002.12:g.199323876T>C	ExAC,gnomAD
COSM3576139	p.Gln492Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199323871G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln493Arg	missense variant	-	NC_000002.12:g.199323867T>C	NCI-TCGA
NCI-TCGA novel	p.Gln493Lys	missense variant	-	NC_000002.12:g.199323868G>T	NCI-TCGA
rs1057524205	p.Glu494Val	missense variant	-	NC_000002.12:g.199323864T>A	-
RCV000422578	p.Glu494Val	missense variant	-	NC_000002.12:g.199323864T>A	ClinVar
NCI-TCGA novel	p.Glu494Ala	missense variant	-	NC_000002.12:g.199323864T>G	NCI-TCGA
rs878853163	p.Lys499Glu	missense variant	-	NC_000002.12:g.199323850T>C	TOPMed
rs878853163	p.Lys499Ter	stop gained	-	NC_000002.12:g.199323850T>A	TOPMed
RCV000224980	p.Lys499Ter	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199323850T>A	ClinVar
COSM3838242	p.Gln502Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199323841G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu504Met	missense variant	-	NC_000002.12:g.199323835G>T	NCI-TCGA
RCV000255520	p.Phe505Ter	frameshift	-	NC_000002.12:g.199323832del	ClinVar
RCV000521883	p.Ala506Ter	frameshift	-	NC_000002.12:g.199323829_199323830insT	ClinVar
NCI-TCGA novel	p.Gln514Arg	missense variant	-	NC_000002.12:g.199323804T>C	NCI-TCGA
rs1553544187	p.Gly515Ser	missense variant	-	NC_000002.12:g.199308957C>T	-
RCV000656510	p.Gly515Ser	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308957C>T	ClinVar
NCI-TCGA novel	p.Glu519Gly	missense variant	-	NC_000002.12:g.199308944T>C	NCI-TCGA
rs1223371144	p.Arg522Ser	missense variant	-	NC_000002.12:g.199308936G>T	gnomAD
rs1371458987	p.Lys524Met	missense variant	-	NC_000002.12:g.199308929T>A	gnomAD
NCI-TCGA novel	p.Asn526Ile	missense variant	-	NC_000002.12:g.199308923T>A	NCI-TCGA
rs1490098266	p.Ser528Gly	missense variant	-	NC_000002.12:g.199308918T>C	TOPMed
RCV000717957	p.Ser528Gly	missense variant	History of neurodevelopmental disorder	NC_000002.12:g.199308918T>C	ClinVar
RCV000533352	p.Asn531Ter	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308911dup	ClinVar
NCI-TCGA novel	p.Asn531Thr	missense variant	-	NC_000002.12:g.199308908T>G	NCI-TCGA
COSM1014608	p.Arg532Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199308906G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu534Ile	missense variant	-	NC_000002.12:g.199308900G>T	NCI-TCGA
NCI-TCGA novel	p.Leu538Pro	missense variant	-	NC_000002.12:g.199308887A>G	NCI-TCGA
NCI-TCGA novel	p.Leu538SerPheSerTerUnk	frameshift	-	NC_000002.12:g.199308888G>-	NCI-TCGA
rs755996970	p.Cys539Tyr	missense variant	-	NC_000002.12:g.199308884C>T	ExAC,gnomAD
rs749986143	p.Thr540Ile	missense variant	-	NC_000002.12:g.199308881G>A	ExAC,gnomAD
rs767163210	p.Arg542Cys	missense variant	-	NC_000002.12:g.199308876G>A	ExAC,gnomAD
rs1178625025	p.Arg543His	missense variant	-	NC_000002.12:g.199308872C>T	TOPMed,gnomAD
rs756719862	p.Arg543Cys	missense variant	-	NC_000002.12:g.199308873G>A	ExAC,gnomAD
RCV000496200	p.Arg543Ter	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308873del	ClinVar
rs1411889903	p.Pro548Ser	missense variant	-	NC_000002.12:g.199308858G>A	gnomAD
COSM357873	p.Pro548Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199308857G>A	NCI-TCGA Cosmic
RCV000626779	p.Arg552Ter	frameshift	Global developmental delay (DD)	NC_000002.12:g.199308846_199308847TC[1]	ClinVar
NCI-TCGA novel	p.Arg552Gly	missense variant	-	NC_000002.12:g.199308846T>C	NCI-TCGA
rs1407936376	p.Asp553Gly	missense variant	-	NC_000002.12:g.199308842T>C	TOPMed
NCI-TCGA novel	p.Asp553Asn	missense variant	-	NC_000002.12:g.199308843C>T	NCI-TCGA
rs1201673032	p.Val554Ile	missense variant	-	NC_000002.12:g.199308840C>T	TOPMed,gnomAD
RCV000704967	p.Val554Ile	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308840C>T	ClinVar
NCI-TCGA novel	p.Val554Ala	missense variant	-	NC_000002.12:g.199308839A>G	NCI-TCGA
rs1462605845	p.Ile555Val	missense variant	-	NC_000002.12:g.199308837T>C	TOPMed,gnomAD
COSM3838241	p.Ile555Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199308835G>C	NCI-TCGA Cosmic
rs377609161	p.Glu557Asp	missense variant	-	NC_000002.12:g.199308829C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu557Asp	missense variant	-	NC_000002.12:g.199308829C>A	NCI-TCGA
RCV000656509	p.Glu566Lys	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308804C>T	ClinVar
rs777257792	p.Arg567Cys	missense variant	-	NC_000002.12:g.199308801G>A	ExAC,gnomAD
COSM4090039	p.Arg567His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199308800C>T	NCI-TCGA Cosmic
rs761112090	p.Met568Leu	missense variant	-	NC_000002.12:g.199308798T>G	ExAC,gnomAD
rs761112090	p.Met568Leu	missense variant	-	NC_000002.12:g.199308798T>A	ExAC,gnomAD
rs1042085577	p.Met568Ile	missense variant	-	NC_000002.12:g.199308796C>T	TOPMed,gnomAD
rs773498253	p.His570Leu	missense variant	-	NC_000002.12:g.199308791T>A	ExAC,gnomAD
rs188013011	p.Val571Met	missense variant	-	NC_000002.12:g.199308789C>T	1000Genomes,ExAC,gnomAD
rs188013011	p.Val571Leu	missense variant	-	NC_000002.12:g.199308789C>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gln573His	missense variant	-	NC_000002.12:g.199308781C>A	NCI-TCGA
rs774550702	p.Leu574His	missense variant	-	NC_000002.12:g.199308779A>T	ExAC,gnomAD
rs1010344792	p.Pro575Ser	missense variant	-	NC_000002.12:g.199308777G>A	TOPMed,gnomAD
rs749170294	p.Pro576Thr	missense variant	-	NC_000002.12:g.199308774G>T	ExAC,gnomAD
rs532416594	p.Pro576Leu	missense variant	-	NC_000002.12:g.199308773G>A	1000Genomes,TOPMed
rs532416594	p.Pro576His	missense variant	-	NC_000002.12:g.199308773G>T	1000Genomes,TOPMed
rs749170294	p.Pro576Ser	missense variant	-	NC_000002.12:g.199308774G>A	ExAC,gnomAD
RCV000623085	p.Glu577Ter	frameshift	Inborn genetic diseases	NC_000002.12:g.199308770_199308771del	ClinVar
rs1160832366	p.Pro578Leu	missense variant	-	NC_000002.12:g.199308767G>A	gnomAD
rs780054309	p.Pro578Thr	missense variant	-	NC_000002.12:g.199308768G>T	ExAC,TOPMed,gnomAD
COSM6089570	p.Val579Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199308765C>A	NCI-TCGA Cosmic
rs924452849	p.His583Arg	missense variant	-	NC_000002.12:g.199272665T>C	TOPMed
NCI-TCGA novel	p.His583Asn	missense variant	-	NC_000002.12:g.199272666G>T	NCI-TCGA
RCV000760677	p.Gln586Ter	nonsense	-	NC_000002.12:g.199272657G>A	ClinVar
COSM718610	p.Gln586Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272656T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala590Thr	missense variant	-	NC_000002.12:g.199272645C>T	NCI-TCGA
rs751007411	p.Ser593Asn	missense variant	-	NC_000002.12:g.199272635C>T	ExAC,TOPMed,gnomAD
rs1168221672	p.Ser593Gly	missense variant	-	NC_000002.12:g.199272636T>C	TOPMed
COSM2906135	p.Ser594Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272632G>A	NCI-TCGA Cosmic
rs751765693	p.Ala600Val	missense variant	-	NC_000002.12:g.199272614G>A	ExAC,TOPMed,gnomAD
rs1401231161	p.Pro602Thr	missense variant	-	NC_000002.12:g.199272609G>T	TOPMed
rs533594267	p.Pro602Leu	missense variant	-	NC_000002.12:g.199272608G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs533594267	p.Pro602His	missense variant	-	NC_000002.12:g.199272608G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM3576137	p.Pro602Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272609G>A	NCI-TCGA Cosmic
rs1266946747	p.Pro603Ser	missense variant	-	NC_000002.12:g.199272606G>A	gnomAD
NCI-TCGA novel	p.Pro603Leu	missense variant	-	NC_000002.12:g.199272605G>A	NCI-TCGA
rs1452420369	p.Pro606Ala	missense variant	-	NC_000002.12:g.199272597G>C	gnomAD
COSM1326544	p.Pro606Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272596G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu608Lys	missense variant	-	NC_000002.12:g.199272591C>T	NCI-TCGA
COSM718611	p.Asp609Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272587T>C	NCI-TCGA Cosmic
rs1048433974	p.Ser610Gly	missense variant	-	NC_000002.12:g.199272585T>C	TOPMed,gnomAD
rs1394335364	p.Pro615Ser	missense variant	-	NC_000002.12:g.199272570G>A	TOPMed,gnomAD
rs776611711	p.Ser617Phe	missense variant	-	NC_000002.12:g.199272563G>A	ExAC,gnomAD
rs776611711	p.Ser617Phe	missense variant	-	NC_000002.12:g.199272563G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1223479618	p.Arg618His	missense variant	-	NC_000002.12:g.199272560C>T	gnomAD
rs1223479618	p.Arg618His	missense variant	-	NC_000002.12:g.199272560C>T	NCI-TCGA Cosmic
COSM6156081	p.Arg618Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272560C>A	NCI-TCGA Cosmic
rs746809112	p.Thr619Ala	missense variant	-	NC_000002.12:g.199272558T>C	ExAC,gnomAD
COSM718612	p.Gly627Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272533C>G	NCI-TCGA Cosmic
COSM4090038	p.Gly627Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272534C>A	NCI-TCGA Cosmic
COSM442082	p.Ile628Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272531T>A	NCI-TCGA Cosmic
COSM1404361	p.Ser631Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272522T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile633Met	missense variant	-	NC_000002.12:g.199272514A>C	NCI-TCGA
NCI-TCGA novel	p.Ile633Thr	missense variant	-	NC_000002.12:g.199272515A>G	NCI-TCGA
NCI-TCGA novel	p.Val636Leu	missense variant	-	NC_000002.12:g.199272507C>A	NCI-TCGA
NCI-TCGA novel	p.Gly637Val	missense variant	-	NC_000002.12:g.199272503C>A	NCI-TCGA
NCI-TCGA novel	p.Leu638LeuTyrLeu	insertion	-	NC_000002.12:g.199272502_199272503insTATAGAAGA	NCI-TCGA
NCI-TCGA novel	p.Leu638HisPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.199272502_199272503insTATAGAAGACTCTGAAGCCAGGTTGCCTAAAGTGAGATGA	NCI-TCGA
COSM3576136	p.Pro640Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272495G>A	NCI-TCGA Cosmic
COSM6156082	p.Pro640Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272494G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln642His	missense variant	-	NC_000002.12:g.199272487C>A	NCI-TCGA
rs1553538927	p.Glu643Lys	missense variant	-	NC_000002.12:g.199272486C>T	-
RCV000520970	p.Glu643Lys	missense variant	-	NC_000002.12:g.199272486C>T	ClinVar
NCI-TCGA novel	p.Glu643Ter	stop gained	-	NC_000002.12:g.199272486C>A	NCI-TCGA
rs1331951748	p.His646Asp	missense variant	-	NC_000002.12:g.199272477G>C	gnomAD
RCV000413155	p.Leu648Ter	frameshift	-	NC_000002.12:g.199272470_199272471AG[1]	ClinVar
RCV000708557	p.Ser649Ter	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272470dup	ClinVar
rs746319722	p.Ser649Leu	missense variant	-	NC_000002.12:g.199272467G>A	ExAC,gnomAD
RCV000658445	p.Ser649Leu	missense variant	-	NC_000002.12:g.199272467G>A	ClinVar
rs746319722	p.Ser649Leu	missense variant	-	NC_000002.12:g.199272467G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala650Val	missense variant	-	NC_000002.12:g.199272464G>A	NCI-TCGA
COSM418924	p.Gln651Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.199272462G>A	NCI-TCGA Cosmic
RCV000502290	p.Pro655Leu	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272449G>A	ClinVar
rs1553538919	p.Pro655Leu	missense variant	-	NC_000002.12:g.199272449G>A	-
rs1478232447	p.Ile659Val	missense variant	-	NC_000002.12:g.199272438T>C	TOPMed
COSM6089572	p.Ile660Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272433G>C	NCI-TCGA Cosmic
rs1553538917	p.Gln664Ter	stop gained	-	NC_000002.12:g.199272423G>A	-
rs144750620	p.Gln664His	missense variant	-	NC_000002.12:g.199272421C>G	ESP,ExAC,TOPMed,gnomAD
RCV000626778	p.Gln664Ter	nonsense	Global developmental delay (DD)	NC_000002.12:g.199272423G>A	ClinVar
NCI-TCGA novel	p.Gln666Ter	stop gained	-	NC_000002.12:g.199272417G>A	NCI-TCGA
rs751977362	p.Arg667Trp	missense variant	-	NC_000002.12:g.199272414G>A	ExAC,TOPMed,gnomAD
RCV000704733	p.Arg667Leu	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272413C>A	ClinVar
rs1559136030	p.Arg667Leu	missense variant	-	NC_000002.12:g.199272413C>A	NCI-TCGA Cosmic
COSM6038379	p.Arg667Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272413C>T	NCI-TCGA Cosmic
COSM718614	p.His669Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272408G>A	NCI-TCGA Cosmic
rs758618655	p.Val670Met	missense variant	-	NC_000002.12:g.199272405C>T	ExAC
RCV000708558	p.His673Ter	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272395dup	ClinVar
rs765349371	p.Gly674Arg	missense variant	-	NC_000002.12:g.199272393C>T	ExAC,gnomAD
COSM1404360	p.Gly674Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272392C>A	NCI-TCGA Cosmic
rs1397644010	p.Lys675Thr	missense variant	-	NC_000002.12:g.199272389T>G	TOPMed
rs138968934	p.Leu676Met	missense variant	-	NC_000002.12:g.199272387G>T	ESP,TOPMed,gnomAD
rs1260665634	p.Lys677Asn	missense variant	-	NC_000002.12:g.199272382T>G	gnomAD
rs147191297	p.Glu678Asp	missense variant	-	NC_000002.12:g.199272379C>G	ESP,ExAC,TOPMed,gnomAD
rs147191297	p.Glu678Asp	missense variant	-	NC_000002.12:g.199272379C>A	ESP,ExAC,TOPMed,gnomAD
rs1345171175	p.His679Arg	missense variant	-	NC_000002.12:g.199272377T>C	gnomAD
rs766332901	p.Leu680Val	missense variant	-	NC_000002.12:g.199272375G>C	ExAC,gnomAD
rs1437550190	p.Leu680Pro	missense variant	-	NC_000002.12:g.199272374A>G	TOPMed
rs1451743452	p.Ala683Val	missense variant	-	NC_000002.12:g.199272365G>A	TOPMed,gnomAD
rs372032415	p.Ala683Thr	missense variant	-	NC_000002.12:g.199272366C>T	ESP,ExAC,TOPMed,gnomAD
RCV000646087	p.Ala683Thr	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272366C>T	ClinVar
rs1451743452	p.Ala683Val	missense variant	-	NC_000002.12:g.199272365G>A	NCI-TCGA Cosmic
rs372032415	p.Ala683Thr	missense variant	-	NC_000002.12:g.199272366C>T	NCI-TCGA
RCV000599133	p.Val684Ter	frameshift	-	NC_000002.12:g.199272364dup	ClinVar
rs773932097	p.Val686Met	missense variant	-	NC_000002.12:g.199272357C>T	ExAC,gnomAD
COSM6156084	p.Val686Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272357C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys690Met	missense variant	-	NC_000002.12:g.199272344T>A	NCI-TCGA
COSM3838240	p.Asp691Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272341T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp691Glu	missense variant	-	NC_000002.12:g.199272340G>T	NCI-TCGA
RCV000708559	p.Glu692Ter	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272339C>A	ClinVar
COSM4090036	p.Glu692Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272337C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser698Leu	missense variant	-	NC_000002.12:g.199272320G>A	NCI-TCGA
rs1197844648	p.Glu699Gly	missense variant	-	NC_000002.12:g.199272317T>C	TOPMed
NCI-TCGA novel	p.Glu700Ter	stop gained	-	NC_000002.12:g.199272315C>A	NCI-TCGA
rs1443276216	p.Asp702Asn	missense variant	-	NC_000002.12:g.199272309C>T	gnomAD
rs148851926	p.Ser703Arg	missense variant	-	NC_000002.12:g.199272304G>T	ESP,ExAC,TOPMed,gnomAD
rs747513035	p.Glu704Lys	missense variant	-	NC_000002.12:g.199272303C>T	ExAC,gnomAD
rs747513035	p.Glu704Lys	missense variant	-	NC_000002.12:g.199272303C>T	NCI-TCGA
rs200723657	p.Glu705Gln	missense variant	-	NC_000002.12:g.199272300C>G	1000Genomes,ExAC,gnomAD
rs1553538875	p.Gly706Ser	missense variant	-	NC_000002.12:g.199272297C>T	-
RCV000646086	p.Gly706Ser	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272297C>T	ClinVar
rs752910885	p.Ser707Tyr	missense variant	-	NC_000002.12:g.199272293G>T	ExAC,gnomAD
rs752910885	p.Ser707Cys	missense variant	-	NC_000002.12:g.199272293G>C	ExAC,gnomAD
COSM1685902	p.Ser707Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272293G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser707ThrPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.199272294_199272295insCTGAAGACAGTTGT	NCI-TCGA
COSM3576133	p.Glu708Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272291C>T	NCI-TCGA Cosmic
rs1286415699	p.Met710Ile	missense variant	-	NC_000002.12:g.199272283C>T	gnomAD
NCI-TCGA novel	p.Tyr711Cys	missense variant	-	NC_000002.12:g.199272281T>C	NCI-TCGA
rs146644021	p.Lys712Gln	missense variant	-	NC_000002.12:g.199272279T>G	ESP,gnomAD
rs999561200	p.Lys712Arg	missense variant	-	NC_000002.12:g.199272278T>C	TOPMed,gnomAD
rs146644021	p.Lys712Glu	missense variant	-	NC_000002.12:g.199272279T>C	ESP,gnomAD
NCI-TCGA novel	p.Asn719MetPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.199272257T>-	NCI-TCGA
rs531933724	p.Ala720Ser	missense variant	-	NC_000002.12:g.199272255C>A	1000Genomes,ExAC,gnomAD
COSM375235	p.Ala720Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272255C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp721His	missense variant	-	NC_000002.12:g.199272252C>G	NCI-TCGA
rs750394257	p.Ser723Asn	missense variant	-	NC_000002.12:g.199272245C>T	ExAC,gnomAD
rs915648697	p.Lys724Asn	missense variant	-	NC_000002.12:g.199272241C>G	TOPMed,gnomAD
rs1421713467	p.Lys724Glu	missense variant	-	NC_000002.12:g.199272243T>C	gnomAD
rs1361438994	p.Lys724Thr	missense variant	-	NC_000002.12:g.199272242T>G	gnomAD
rs767329844	p.Ala725Val	missense variant	-	NC_000002.12:g.199272239G>A	ExAC,gnomAD
rs1423097949	p.Ala725Thr	missense variant	-	NC_000002.12:g.199272240C>T	gnomAD
rs551624897	p.Ala726Thr	missense variant	-	NC_000002.12:g.199272237C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000540212	p.Ala726Thr	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272237C>T	ClinVar
rs1392711751	p.Pro727Ser	missense variant	-	NC_000002.12:g.199272234G>A	TOPMed
rs1240942211	p.Pro727Arg	missense variant	-	NC_000002.12:g.199272233G>C	gnomAD
rs377368865	p.Ala728Pro	missense variant	-	NC_000002.12:g.199272231C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140532313	p.Ala728Gly	missense variant	-	NC_000002.12:g.199272230G>C	ESP,ExAC,TOPMed
rs1489038642	p.Glu729Lys	missense variant	-	NC_000002.12:g.199272228C>T	gnomAD
rs1489038642	p.Glu729Lys	missense variant	-	NC_000002.12:g.199272228C>T	NCI-TCGA Cosmic
rs373319001	p.Ile730Thr	missense variant	-	NC_000002.12:g.199272224A>G	ESP,ExAC,TOPMed,gnomAD
rs373319001	p.Ile730Asn	missense variant	-	NC_000002.12:g.199272224A>T	ESP,ExAC,TOPMed,gnomAD
rs778160560	p.Gln732His	missense variant	-	NC_000002.12:g.199272217C>A	ExAC,gnomAD
rs1553493553	p.Trp225Ter	stop gained	-	NC_000002.12:g.199368631C>T	-

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0001418	Adenocarcinoma	group	BEFREE
C0001807	Aggressive behavior	phenotype	HPO
C0003706	Arachnodactyly	disease	HPO
C0007102	Malignant tumor of colon	disease	BEFREE
C0007103	Malignant neoplasm of endometrium	disease	BEFREE
C0007107	Malignant neoplasm of larynx	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007621	Neoplastic Cell Transformation	phenotype	CTD_human
C0008626	Congenital chromosomal disease	group	BEFREE
C0008925	Cleft Palate	disease	BEFREE;CTD_human;MGD
C0009081	Congenital clubfoot	disease	HPO
C0009241	Cognition Disorders	group	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0014544	Epilepsy	disease	HPO
C0015230	Exanthema	phenotype	BEFREE
C0016045	fibroma	disease	BEFREE
C0017525	Giant Cell Tumors	group	BEFREE
C0019294	Hernia, Inguinal	phenotype	HPO
C0020608	Hypodontia	disease	BEFREE
C0023012	Language Delay	phenotype	HPO
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025362	Mental Retardation	disease	HPO
C0025990	Micrognathism	disease	BEFREE;HPO
C0026034	Microstomia	disease	HPO
C0026827	Muscle hypotonia	phenotype	HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0029463	Osteosarcoma	disease	BEFREE
C0031900	Pierre Robin Syndrome	disease	BEFREE
C0036341	Schizophrenia	disease	GWASCAT
C0036572	Seizures	phenotype	HPO
C0036857	Severe mental retardation (I.Q. 20-34)	disease	HPO
C0037579	Soft Tissue Neoplasms	group	BEFREE
C0040433	Tooth Crowding	phenotype	HPO
C0149925	Small cell carcinoma of lung	disease	CTD_human
C0178874	Tumor Progression	phenotype	BEFREE
C0221354	Frontal bossing	disease	HPO
C0232466	Feeding difficulties	phenotype	HPO
C0233715	Speech impairment	phenotype	HPO
C0239234	Low set ears	phenotype	HPO
C0239676	High forehead	phenotype	HPO
C0240543	Bulbous nose	phenotype	HPO
C0240635	Byzanthine arch palate	disease	BEFREE;HPO
C0241210	Speech Delay	phenotype	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0266037	Peg-shaped teeth	disease	HPO
C0266122	Cleft uvula	disease	MGD
C0266617	Congenital anomaly of face	group	BEFREE
C0279622	Small cell osteosarcoma	disease	BEFREE
C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	disease	BEFREE
C0280324	Laryngeal Squamous Cell Carcinoma	disease	BEFREE
C0338656	Impaired cognition	disease	BEFREE
C0349588	Short stature	phenotype	HPO
C0376634	Craniofacial Abnormalities	group	CTD_human
C0423110	Downward slant of palpebral fissure	phenotype	HPO
C0423757	Thin skin	phenotype	HPO
C0423867	Fine hair	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0424295	Hyperactive behavior	phenotype	HPO
C0424323	Physical aggression	phenotype	HPO
C0424688	Small head	phenotype	HPO
C0426422	Narrow nose	phenotype	HPO
C0432090	Cleft of hard palate	disease	MGD
C0432098	Cleft Soft Palate	disease	MGD
C0454644	Delayed speech and language development	phenotype	HPO
C0476089	Endometrial Carcinoma	disease	BEFREE
C0521158	Recurrent tumor	phenotype	BEFREE
C0553580	Ewings sarcoma	disease	BEFREE
C0557874	Global developmental delay	disease	HPO
C0578038	Thin lips	phenotype	HPO
C0585442	Osteosarcoma of bone	disease	BEFREE
C0595989	Carcinoma of larynx	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0685409	Congenital Camptodactyly	disease	HPO
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0796184	Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence	disease	BEFREE
C0856863	Broad-based gait	phenotype	HPO
C0917816	Mental deficiency	disease	HPO
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1142533	Smooth philtrum	phenotype	HPO
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1314691	Age at menarche	phenotype	GWASCAT
C1317785	Tooth size discrepancy	phenotype	HPO
C1457883	Aggressive reaction	phenotype	HPO
C1510586	Autism Spectrum Disorders	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1535926	Neurodevelopmental Disorders	group	BEFREE
C1834118	Potato nose	phenotype	HPO
C1834405	Nail dysplasia	disease	HPO
C1836047	Long face	phenotype	HPO
C1837218	Cleft palate, isolated	disease	BEFREE;CTD_human;MGD
C1837770	Sparse hair	phenotype	HPO
C1839798	Long nose	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1853242	Midface retrusion	phenotype	HPO
C1854113	Prominent nasal bridge	phenotype	HPO
C1855751	Bulbous nasal tip	phenotype	HPO
C1856115	Happy demeanor	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1857276	Trichohepatoenteric Syndrome	disease	BEFREE
C1858085	Malar flattening	phenotype	HPO
C1860844	Thin, sparse hair	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1883486	Uterine Corpus Cancer	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2673410	Small midface	phenotype	HPO
C2676739	Chromosome 2q32-Q33 Deletion Syndrome	disease	CLINVAR;CTD_human;ORPHANET
C2939420	Metastatic Neoplasm	phenotype	BEFREE
C2945759	aggressive cancer	phenotype	BEFREE
C2981150	Uranostaphyloschisis	disease	BEFREE;HPO;MGD
C3714756	Intellectual Disability	group	BEFREE;GENOMICS_ENGLAND;HPO
C4012359	Pointed tooth	phenotype	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4082304	Oligodontia	disease	HPO
C4230640	Convex nasal bridge	phenotype	HPO
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280617	Tooth mass arch size discrepancy	phenotype	HPO
C4280618	Inadequate arch length for tooth size	phenotype	HPO
C4280619	Missing more than six teeth	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IBA
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003682	chromatin binding	IEA
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA
GO:0001764	neuron migration	IEA
GO:0002076	osteoblast development	IEA
GO:0006338	chromatin remodeling	IBA
GO:0006357	regulation of transcription by RNA polymerase II	IBA
GO:0009880	embryonic pattern specification	IEA
GO:0021902	commitment of neuronal cell to specific neuron type in forebrain	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
GO:0048704	embryonic skeletal system morphogenesis	IEA
GO:0051216	cartilage development	IEA
GO:0060021	roof of mouth development	IEA
GO:0071310	cellular response to organic substance	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000118	histone deacetylase complex	IEA
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0005667	transcription factor complex	IEA
GO:0016363	nuclear matrix	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-212436	Generic Transcription Pathway	IEA
R-HSA-2990846	SUMOylation	TAS
R-HSA-3108232	SUMO E3 ligases SUMOylate target proteins	TAS
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-4551638	SUMOylation of chromatin organization proteins	TAS
R-HSA-597592	Post-translational protein modification	TAS
R-HSA-73857	RNA Polymerase II Transcription	IEA
R-HSA-74160	Gene expression (Transcription)	IEA
R-HSA-8878166	Transcriptional regulation by RUNX2	IEA
R-HSA-8940973	RUNX2 regulates osteoblast differentiation	IEA
R-HSA-8941326	RUNX2 regulates bone development	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of SATB2 mRNA	25510870
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in decreased expression of SATB2 mRNA	21394737
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of SATB2 mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of SATB2 mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of SATB2 mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of SATB2 mRNA	25510870
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide 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 SATB2 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 p-Chloromercuribenzoic 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 SATB2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SATB2 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 SATB2 mRNA	20382639
D000082	Acetaminophen	Acetaminophen results in decreased expression of SATB2 mRNA	22230336
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of SATB2 protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of SATB2 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of SATB2 intron	30157460
D000517	alpha-Chlorohydrin	alpha-Chlorohydrin results in decreased expression of SATB2 mRNA	28522335
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of SATB2 mRNA	24449571
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of SATB2 mRNA	15761015
D001205	Ascorbic Acid	[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of SATB2 mRNA	26424790
D001205	Ascorbic Acid	EZH2 protein inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of SATB2 mRNA]	26424790
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of SATB2 mRNA	20106945; 21632981;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of SATB2 mRNA	21839799
C031463	beta-glycerophosphoric acid	[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of SATB2 mRNA	26424790
C031463	beta-glycerophosphoric acid	EZH2 protein inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of SATB2 mRNA]	26424790
C006780	bisphenol A	bisphenol A affects the expression of SATB2 mRNA	30248606
C006780	bisphenol A	bisphenol A affects the methylation of SATB2 promoter	27334623
C006780	bisphenol A	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of SATB2 promoter	23359474
C006780	bisphenol A	bisphenol A results in decreased expression of SATB2 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of SATB2 mRNA	29097150
C018475	butyraldehyde	butyraldehyde results in decreased expression of SATB2 mRNA	26079696
D002220	Carbamazepine	Carbamazepine affects the expression of SATB2 mRNA	25979313
D002857	Chromium	Chromium results in increased expression of SATB2 mRNA	21437242
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of SATB2 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of SATB2 mRNA	27392435
D003042	Cocaine	[Cocaine co-treated with FOS protein mutant form] results in increased expression of SATB2 mRNA	18355967
D003042	Cocaine	Cocaine results in decreased expression of SATB2 mRNA	18355967
D003375	Coumestrol	Coumestrol results in decreased expression of SATB2 mRNA	19167446
D003471	Cuprizone	Cuprizone results in decreased expression of SATB2 mRNA	26577399
D000077209	Decitabine	Decitabine results in decreased expression of SATB2 mRNA	27915011
D003907	Dexamethasone	[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of SATB2 mRNA	26424790
D003907	Dexamethasone	EZH2 protein inhibits the reaction [[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in increased expression of SATB2 mRNA]	26424790
D003993	Dibutyl Phthalate	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of SATB2 promoter	23359474
C000944	dicrotophos	dicrotophos results in increased expression of SATB2 mRNA	28302478
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of SATB2 mRNA	31163220
D004051	Diethylhexyl Phthalate	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of SATB2 promoter	23359474
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide 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 SATB2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with p-Chloromercuribenzoic 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 SATB2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SATB2 mRNA	27188386
D004726	Endosulfan	Endosulfan results in decreased expression of SATB2 mRNA	30090376
D004958	Estradiol	Estradiol affects the expression of SATB2 mRNA	14699072
D004958	Estradiol	[Estradiol binds to ESR2 protein] which results in increased expression of SATB2 mRNA	20404318
D005557	Formaldehyde	Formaldehyde results in decreased expression of SATB2 mRNA	23416264
C069837	fullerene C60	fullerene C60 results in decreased expression of SATB2 mRNA	19167457
C412815	GW 4064	GW 4064 results in increased expression of SATB2 mRNA	26655953
D006997	Hypochlorous Acid	Hypochlorous Acid results in increased expression of SATB2 mRNA	19376150
C492448	ICG 001	ICG 001 results in decreased expression of SATB2 mRNA	26191083
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of SATB2 mRNA	27392435
C544151	jinfukang	jinfukang results in decreased expression of SATB2 mRNA	27392435
D007649	Ketamine	Ketamine results in decreased expression of SATB2 mRNA	20080153
D007854	Lead	Lead results in increased expression of SATB2 mRNA	19921347
C042720	mercuric bromide	mercuric bromide results in decreased expression of SATB2 mRNA	26272509
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide 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 SATB2 mRNA	27188386
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of SATB2 mRNA	26011545
D008942	Mitoxantrone	SATB2 protein affects the susceptibility to Mitoxantrone	16217747
C000622638	MLN7243	MLN7243 results in decreased sumoylation of SATB2 protein	31285264
D009532	Nickel	Nickel results in increased expression of SATB2 protein	26780400
C028007	nickel monoxide	nickel monoxide results in decreased expression of SATB2 mRNA	19167457
C029938	nickel sulfate	nickel sulfate results in increased expression of SATB2 mRNA	22714537
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of SATB2 mRNA	20188158
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of SATB2 mRNA	25510870
D020245	p-Chloromercuribenzoic Acid	[NOG protein co-treated with p-Chloromercuribenzoic 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 SATB2 mRNA	27188386
D020245	p-Chloromercuribenzoic Acid	p-Chloromercuribenzoic Acid results in decreased expression of SATB2 mRNA	26272509
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of SATB2 mRNA	22714537
D011441	Propylthiouracil	Propylthiouracil results in increased expression of SATB2 mRNA	24780913
D011794	Quercetin	Quercetin results in decreased expression of SATB2 mRNA	21632981
D012906	Smoke	Smoke results in increased expression of SATB2 mRNA	21095227
C017947	sodium arsenite	MIR31 mRNA inhibits the reaction [sodium arsenite results in increased expression of SATB2 protein]	29603397
C017947	sodium arsenite	SATB2 protein results in increased susceptibility to sodium arsenite	29603397
C017947	sodium arsenite	sodium arsenite affects the methylation of SATB2 gene	28589171
C017947	sodium arsenite	sodium arsenite results in increased expression of SATB2 mRNA	22714537; 29603397;
C017947	sodium arsenite	sodium arsenite results in increased expression of SATB2 protein	29603397
D053260	Soot	Soot results in increased expression of SATB2 mRNA	26551751
D000077210	Sunitinib	Sunitinib results in increased expression of SATB2 mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of SATB2 mRNA	20106945; 21632981;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of SATB2 mRNA	27913140
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of SATB2 mRNA	24058054
C012589	trichostatin A	trichostatin A results in increased expression of SATB2 mRNA	24935251
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SATB2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of SATB2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of SATB2 mRNA	23179753; 24383497; 24935251; 26272509; 27188386; 28001369; 29154799;
D014635	Valproic Acid	Valproic Acid results in increased methylation of SATB2 gene	29154799
D014638	Vanadates	Vanadates results in increased expression of SATB2 mRNA	22714537
D019287	Zinc Sulfate	Zinc Sulfate results in decreased expression of SATB2 mRNA	27215404

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0156	Chromatin regulator
KW-0160	Chromosomal rearrangement
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0371	Homeobox
KW-1017	Isopeptide bond
KW-0991	Mental retardation
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0677	Repeat
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR003350	CUT_dom
IPR032355	CUTL
IPR009057	Homeobox-like_sf
IPR001356	Homeobox_dom
IPR010982	Lambda_DNA-bd_dom_sf
IPR039673	SATB1/SATB2
IPR038216	SATB_CUTL_sf
IPR038224	SATB_ULD_sf
IPR032392	ULD

PROSITE

PROSITE ID	PROSITE Term
PS51042	CUT
PS50071	HOMEOBOX_2

Pfam

Pfam ID	Pfam Term
PF02376	CUT
PF16557	CUTL
PF00046	Homeodomain
PF16534	ULD

Gene: SATB2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

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