SATB1 (SATB homeobox 1) - Rat Genome Database

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Gene: SATB1 (SATB homeobox 1) Homo sapiens
Analyze
Symbol: SATB1
Name: SATB homeobox 1
RGD ID: 1313660
HGNC Page HGNC:10541
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in PML body.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DEFDA; DHDBV; DNA-binding protein SATB1; KTZSL; special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA's); special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA); special AT-rich sequence-binding protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38318,345,377 - 18,445,592 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl318,345,377 - 18,445,621 (-)EnsemblGRCh38hg38GRCh38
GRCh37318,386,869 - 18,487,084 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36318,364,438 - 18,440,344 (-)NCBINCBI36Build 36hg18NCBI36
Build 34318,364,438 - 18,440,344NCBI
Celera318,327,413 - 18,424,451 (-)NCBICelera
Cytogenetic Map3p24.3NCBI
HuRef318,323,695 - 18,414,820 (-)NCBIHuRef
CHM1_1318,342,029 - 18,433,152 (-)NCBICHM1_1
T2T-CHM13v2.0318,347,503 - 18,447,703 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,7-dihydropurine-6-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetazolamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
amitrole  (ISO)
amphetamine  (ISO)
antimycin A  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
azoxystrobin  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cantharidin  (ISO)
carbon nanotube  (EXP,ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
crocidolite asbestos  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
deguelin  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
diethylstilbestrol  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
ethanol  (ISO)
fenpyroximate  (EXP)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
gentamycin  (ISO)
geraniol  (EXP)
hydroquinone  (EXP)
lead(0)  (EXP)
mercaptopurine  (ISO)
methimazole  (ISO)
methylmercury chloride  (EXP)
nickel sulfate  (EXP)
niclosamide  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
picoxystrobin  (EXP)
potassium chromate  (EXP)
purine-6-thiol  (ISO)
pyrimidifen  (EXP)
retinyl acetate  (ISO)
rotenone  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
serpentine asbestos  (EXP)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thifluzamide  (EXP)
titanium dioxide  (ISO)
topotecan  (EXP,ISO)
triphenyl phosphate  (EXP)
tungsten  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
heterochromatin  (ISO)
nuclear body  (IDA)
nuclear matrix  (IEA)
nucleoplasm  (IDA,TAS)
nucleus  (IDA,IEA)
PML body  (IDA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abnormal dental morphology  (IAGP)
Abnormality of prenatal development or birth  (IAGP)
Abnormality of vision  (IAGP)
Absent speech  (IAGP)
Agitation  (IAGP)
Amelogenesis imperfecta  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Axial hypotonia  (IAGP)
Brachycephaly  (IAGP)
Caesarian section  (IAGP)
Carious teeth  (IAGP)
Constipation  (IAGP)
Death in adolescence  (IAGP)
Decreased body weight  (IAGP)
Delayed ability to sit  (IAGP)
Delayed ability to walk  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Developmental stagnation at onset of seizures  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
Dry skin  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
EEG abnormality  (IAGP)
EEG with focal spike waves  (IAGP)
Enamel hypoplasia  (IAGP)
Focal myoclonic seizure  (IAGP)
Focal-onset seizure  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized clonic seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Global brain atrophy  (IAGP)
Global developmental delay  (IAGP)
High forehead  (IAGP)
Hypermetropia  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Inability to walk  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint hypermobility  (IAGP)
Lactose intolerance  (IAGP)
Lateral ventricle dilatation  (IAGP)
Lower limb spasticity  (IAGP)
Maintenance insomnia  (IAGP)
Microcephaly  (IAGP)
Midface retrusion  (IAGP)
Motor delay  (IAGP)
Motor stereotypy  (IAGP)
Multifocal epileptiform discharges  (IAGP)
Myoclonus  (IAGP)
Neurodevelopmental delay  (IAGP)
Nocturnal seizures  (IAGP)
Obesity  (IAGP)
Oligohydramnios  (IAGP)
Overweight  (IAGP)
Posteriorly rotated ears  (IAGP)
Premature birth  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Recurrent urinary tract infections  (IAGP)
Sandal gap  (IAGP)
Scoliosis  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Short attention span  (IAGP)
Short foot  (IAGP)
Sleep abnormality  (IAGP)
Small hand  (IAGP)
Smooth philtrum  (IAGP)
Spasticity  (IAGP)
Status epilepticus  (IAGP)
Stereotypical hand wringing  (IAGP)
Thick eyebrow  (IAGP)
Tremor  (IAGP)
Upper limb spasticity  (IAGP)
Ventouse delivery  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Widely spaced teeth  (IAGP)
Widow's peak  (IAGP)
Yellow-brown discoloration of the teeth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1505028   PMID:7829101   PMID:8114718   PMID:9284917   PMID:9417904   PMID:9886398   PMID:10373541   PMID:11463840   PMID:11937547   PMID:12036295   PMID:12374985   PMID:12477932  
PMID:12692553   PMID:12766061   PMID:14605447   PMID:14702039   PMID:15489334   PMID:15561718   PMID:15618465   PMID:15677454   PMID:15713622   PMID:15851481   PMID:15970696   PMID:16189514  
PMID:16344560   PMID:16371359   PMID:16377216   PMID:16630892   PMID:17057718   PMID:17173041   PMID:17343824   PMID:17376900   PMID:17652321   PMID:18337816   PMID:18408014   PMID:19072498  
PMID:19103759   PMID:19274049   PMID:19304547   PMID:19332023   PMID:19860849   PMID:20126258   PMID:20351170   PMID:20379614   PMID:20584685   PMID:20595686   PMID:20811679   PMID:20980149  
PMID:21232178   PMID:21270445   PMID:21355308   PMID:21597389   PMID:21743493   PMID:21764697   PMID:21767935   PMID:21799257   PMID:21841785   PMID:21870058   PMID:21873635   PMID:22088470  
PMID:22139419   PMID:22328728   PMID:22583549   PMID:22683624   PMID:22710879   PMID:22771615   PMID:22782115   PMID:22820583   PMID:22839214   PMID:22864778   PMID:22879953   PMID:22935204  
PMID:22998183   PMID:23076250   PMID:23188721   PMID:23251624   PMID:23278463   PMID:23308245   PMID:23317753   PMID:23326301   PMID:23437226   PMID:23516037   PMID:23613626   PMID:23642278  
PMID:23686316   PMID:23696028   PMID:23894778   PMID:24009715   PMID:24047082   PMID:24118100   PMID:24176859   PMID:24260116   PMID:24370885   PMID:24696710   PMID:24714607   PMID:24715035  
PMID:24729451   PMID:24747435   PMID:24938377   PMID:24966956   PMID:24971456   PMID:24981860   PMID:25257341   PMID:25323550   PMID:25326863   PMID:25347096   PMID:25384658   PMID:25416956  
PMID:25496125   PMID:25543122   PMID:25586771   PMID:25609649   PMID:25619478   PMID:25665578   PMID:25762622   PMID:25874491   PMID:25896016   PMID:25951709   PMID:25956130   PMID:25966097  
PMID:26084613   PMID:26108419   PMID:26165840   PMID:26186194   PMID:26422397   PMID:26512778   PMID:26522984   PMID:26528635   PMID:26563145   PMID:26678884   PMID:26701851   PMID:26810818  
PMID:26876172   PMID:27044805   PMID:27052102   PMID:27107063   PMID:27179949   PMID:27462121   PMID:27466515   PMID:27472393   PMID:27590341   PMID:27637333   PMID:27697109   PMID:27783844  
PMID:27883059   PMID:28049521   PMID:28147311   PMID:28205095   PMID:28345457   PMID:28514442   PMID:28636989   PMID:28794006   PMID:28801365   PMID:29079132   PMID:29306014   PMID:29307244  
PMID:29334836   PMID:29365100   PMID:29374696   PMID:29507755   PMID:29510190   PMID:29546272   PMID:29751003   PMID:29844126   PMID:29932248   PMID:29936452   PMID:30021884   PMID:30082769  
PMID:30132561   PMID:30337520   PMID:30368875   PMID:30720170   PMID:30742943   PMID:30803026   PMID:31001272   PMID:31147803   PMID:31290787   PMID:31497998   PMID:31543366   PMID:31737131  
PMID:31830989   PMID:32076268   PMID:32296183   PMID:32525527   PMID:32562536   PMID:32669713   PMID:32771472   PMID:32862579   PMID:33285627   PMID:33356851   PMID:33390772   PMID:33513338  
PMID:33564000   PMID:33955522   PMID:33961781   PMID:34031799   PMID:34048709   PMID:34576286   PMID:34709266   PMID:34795231   PMID:34961766   PMID:35113413   PMID:35140242   PMID:35353722  
PMID:35439318   PMID:35460833   PMID:35611599   PMID:35914814   PMID:36058862   PMID:36089195   PMID:36129980   PMID:36215168   PMID:36376298   PMID:36495733   PMID:36518755   PMID:36688959  
PMID:36950384   PMID:36987811   PMID:37000624   PMID:37191839   PMID:37827155   PMID:37932931   PMID:37985573   PMID:38150791   PMID:38297188   PMID:38385627   PMID:38755179   PMID:39195213  


Genomics

Comparative Map Data
SATB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38318,345,377 - 18,445,592 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl318,345,377 - 18,445,621 (-)EnsemblGRCh38hg38GRCh38
GRCh37318,386,869 - 18,487,084 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36318,364,438 - 18,440,344 (-)NCBINCBI36Build 36hg18NCBI36
Build 34318,364,438 - 18,440,344NCBI
Celera318,327,413 - 18,424,451 (-)NCBICelera
Cytogenetic Map3p24.3NCBI
HuRef318,323,695 - 18,414,820 (-)NCBIHuRef
CHM1_1318,342,029 - 18,433,152 (-)NCBICHM1_1
T2T-CHM13v2.0318,347,503 - 18,447,703 (-)NCBIT2T-CHM13v2.0
Satb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391752,043,215 - 52,140,318 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1752,043,215 - 52,140,318 (-)EnsemblGRCm39 Ensembl
GRCm381751,736,187 - 51,833,290 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1751,736,187 - 51,833,290 (-)EnsemblGRCm38mm10GRCm38
MGSCv371751,875,512 - 51,972,615 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361751,204,398 - 51,297,562 (-)NCBIMGSCv36mm8
Celera1755,200,882 - 55,296,979 (-)NCBICelera
Cytogenetic Map17CNCBI
cM Map1726.81NCBI
Satb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr894,916,958 - 5,010,359 (-)NCBIGRCr8
mRatBN7.294,677,817 - 4,773,061 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl94,680,920 - 4,753,251 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx95,873,936 - 5,946,105 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0911,045,778 - 11,117,946 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0910,178,871 - 10,251,041 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.092,181,135 - 2,277,949 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl92,190,915 - 2,274,629 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.092,129,797 - 2,224,329 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.493,307,651 - 3,391,348 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.193,307,650 - 3,391,345 (+)NCBI
Celera91,577,500 - 1,650,421 (-)NCBICelera
Cytogenetic Map9q11NCBI
Satb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543010,587,539 - 10,683,887 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543010,587,539 - 10,683,887 (-)NCBIChiLan1.0ChiLan1.0
SATB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2218,329,857 - 18,428,420 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1318,334,623 - 18,433,171 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0318,267,819 - 18,368,924 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1318,602,204 - 18,700,696 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl318,602,204 - 18,681,211 (-)Ensemblpanpan1.1panPan2
SATB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12324,614,198 - 24,692,254 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2324,593,489 - 24,690,977 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2324,628,318 - 24,729,971 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02325,080,231 - 25,182,042 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2325,080,226 - 25,179,312 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12324,802,248 - 24,903,924 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02324,862,371 - 24,964,041 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02325,107,820 - 25,209,575 (+)NCBIUU_Cfam_GSD_1.0
Satb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118177,766,685 - 177,862,478 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647310,904,989 - 11,001,051 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647310,906,059 - 11,001,007 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SATB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl135,314,148 - 5,417,610 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1135,315,985 - 5,410,686 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2136,018,336 - 6,115,617 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SATB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11563,163,989 - 63,263,122 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1563,170,243 - 63,263,149 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604136,170,384 - 36,269,846 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Satb1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248213,726,355 - 3,800,497 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248213,723,609 - 3,820,921 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SATB1
93 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p24.3(chr3:18179713-22678013)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051507]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051507]|See cases [RCV000051507] Chr3:18179713..22678013 [GRCh38]
Chr3:18221205..22719504 [GRCh37]
Chr3:18196209..22694508 [NCBI36]
Chr3:3p24.3		 pathogenic
GRCh38/hg38 3p24.3(chr3:18253476-20137057)x3 copy number gain See cases [RCV000051439] Chr3:18253476..20137057 [GRCh38]
Chr3:18294968..20178549 [GRCh37]
Chr3:18269972..20153553 [NCBI36]
Chr3:3p24.3		 uncertain significance
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 copy number gain See cases [RCV000051690] Chr3:52066..20280127 [GRCh38]
Chr3:93749..20321619 [GRCh37]
Chr3:68749..20296623 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 copy number gain See cases [RCV000051719] Chr3:63843..19510600 [GRCh38]
Chr3:105526..19552092 [GRCh37]
Chr3:80526..19527096 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 copy number gain See cases [RCV000051720] Chr3:11463328..38919543 [GRCh38]
Chr3:11504802..38961034 [GRCh37]
Chr3:11479802..38936038 [NCBI36]
Chr3:3p25.3-22.2		 pathogenic
NM_001131010.2(SATB1):c.2202T>C (p.Asp734=) single nucleotide variant Malignant melanoma [RCV000060774] Chr3:18349260 [GRCh38]
Chr3:18390752 [GRCh37]
Chr3:18365756 [NCBI36]
Chr3:3p24.3		 not provided
GRCh38/hg38 3p24.3(chr3:18366779-20647947)x1 copy number loss See cases [RCV000136545] Chr3:18366779..20647947 [GRCh38]
Chr3:18408271..20689439 [GRCh37]
Chr3:18383275..20664443 [NCBI36]
Chr3:3p24.3		 uncertain significance
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 copy number gain See cases [RCV000137941] Chr3:32241..20334387 [GRCh38]
Chr3:73914..20375879 [GRCh37]
Chr3:48914..20350883 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p24.3(chr3:17573510-18695830)x1 copy number loss See cases [RCV000139651] Chr3:17573510..18695830 [GRCh38]
Chr3:17615002..18737322 [GRCh37]
Chr3:17590006..18712326 [NCBI36]
Chr3:3p24.3		 uncertain significance
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1		 pathogenic
GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4 copy number gain See cases [RCV000143767] Chr3:14360747..21656134 [GRCh38]
Chr3:14402247..21697626 [GRCh37]
Chr3:14377251..21672630 [NCBI36]
Chr3:3p25.1-24.3		 pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 copy number gain See cases [RCV000447247] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3 copy number gain not provided [RCV000682215] Chr3:1897972..19519085 [GRCh37]
Chr3:3p26.3-24.3		 pathogenic
GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3 copy number gain not provided [RCV000682249] Chr3:16923595..45249923 [GRCh37]
Chr3:3p24.3-21.31		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p25.2-24.2(chr3:13276005-24295240)x3 copy number gain not provided [RCV000742260] Chr3:13276005..24295240 [GRCh37]
Chr3:3p25.2-24.2		 pathogenic
NM_002971.6(SATB1):c.640-5T>C single nucleotide variant not provided [RCV000880766] Chr3:18397295 [GRCh38]
Chr3:18438787 [GRCh37]
Chr3:3p24.3		 benign
NM_002971.6(SATB1):c.874A>G (p.Ser292Gly) single nucleotide variant not provided [RCV000946717] Chr3:18394794 [GRCh38]
Chr3:18436286 [GRCh37]
Chr3:3p24.3		 benign
NM_002971.6(SATB1):c.962del (p.Leu321fs) deletion Developmental delay with dysmorphic facies and dental anomalies [RCV003314137] Chr3:18394706 [GRCh38]
Chr3:18436198 [GRCh37]
Chr3:3p24.3		 pathogenic
NM_002971.6(SATB1):c.1004_1005del (p.Arg335fs) deletion Developmental delay with dysmorphic facies and dental anomalies [RCV001838246] Chr3:18394663..18394664 [GRCh38]
Chr3:18436155..18436156 [GRCh37]
Chr3:3p24.3		 pathogenic|uncertain significance
NM_002971.6(SATB1):c.1718C>T (p.Ala573Val) single nucleotide variant Inborn genetic diseases [RCV003271050] Chr3:18352053 [GRCh38]
Chr3:18393545 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.315G>A (p.Met105Ile) single nucleotide variant not provided [RCV003126943] Chr3:18416975 [GRCh38]
Chr3:18458467 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.676G>T (p.Ala226Ser) single nucleotide variant not provided [RCV003233443] Chr3:18397254 [GRCh38]
Chr3:18438746 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1353C>A (p.Ser451Arg) single nucleotide variant SATB1-related disorder [RCV004699094] Chr3:18386465 [GRCh38]
Chr3:18427957 [GRCh37]
Chr3:3p24.3		 likely pathogenic
NM_002971.6(SATB1):c.2194G>T (p.Val732Phe) single nucleotide variant Autism spectrum disorder [RCV003127294] Chr3:18349268 [GRCh38]
Chr3:18390760 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.273C>G (p.Cys91Trp) single nucleotide variant not provided [RCV002284818] Chr3:18417017 [GRCh38]
Chr3:18458509 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.301G>A (p.Val101Met) single nucleotide variant Kohlschutter-Tonz syndrome-like [RCV002470237] Chr3:18416989 [GRCh38]
Chr3:18458481 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1720G>C (p.Val574Leu) single nucleotide variant not provided [RCV002284935] Chr3:18352051 [GRCh38]
Chr3:18393543 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1259A>G (p.Gln420Arg) single nucleotide variant Inborn genetic diseases [RCV001266244]|Kohlschutter-Tonz syndrome-like [RCV001347723] Chr3:18386559 [GRCh38]
Chr3:18428051 [GRCh37]
Chr3:3p24.3		 pathogenic|likely pathogenic|uncertain significance
NM_002971.6(SATB1):c.1206+1G>T single nucleotide variant not provided [RCV001786709] Chr3:18394461 [GRCh38]
Chr3:18435953 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1219G>C (p.Glu407Gln) single nucleotide variant Developmental delay with dysmorphic facies and dental anomalies [RCV002246337]|Kohlschutter-Tonz syndrome-like [RCV001358692] Chr3:18386599 [GRCh38]
Chr3:18428091 [GRCh37]
Chr3:3p24.3		 pathogenic
NM_002971.6(SATB1):c.2110G>A (p.Gly704Ser) single nucleotide variant Neurodevelopmental disorder [RCV001375014] Chr3:18349352 [GRCh38]
Chr3:18390844 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1228C>T (p.Arg410Ter) single nucleotide variant Developmental delay with dysmorphic facies and dental anomalies [RCV001347718] Chr3:18386590 [GRCh38]
Chr3:18428082 [GRCh37]
Chr3:3p24.3		 pathogenic
NM_002971.6(SATB1):c.1588G>A (p.Glu530Lys) single nucleotide variant Kohlschutter-Tonz syndrome-like [RCV001347719]|not provided [RCV001780262] Chr3:18352183 [GRCh38]
Chr3:18393675 [GRCh37]
Chr3:3p24.3		 pathogenic|likely pathogenic
NM_002971.6(SATB1):c.2080C>T (p.Gln694Ter) single nucleotide variant Developmental delay with dysmorphic facies and dental anomalies [RCV001347721] Chr3:18349382 [GRCh38]
Chr3:18390874 [GRCh37]
Chr3:3p24.3		 pathogenic
NM_002971.6(SATB1):c.1220A>G (p.Glu407Gly) single nucleotide variant Kohlschutter-Tonz syndrome-like [RCV001347722] Chr3:18386598 [GRCh38]
Chr3:18428090 [GRCh37]
Chr3:3p24.3		 pathogenic
NM_002971.6(SATB1):c.1574A>G (p.Gln525Arg) single nucleotide variant Kohlschutter-Tonz syndrome-like [RCV001347724] Chr3:18378171 [GRCh38]
Chr3:18419663 [GRCh37]
Chr3:3p24.3		 pathogenic|likely pathogenic
NM_002971.6(SATB1):c.1386C>A (p.Pro462=) single nucleotide variant not provided [RCV001614872] Chr3:18386432 [GRCh38]
Chr3:18427924 [GRCh37]
Chr3:3p24.3		 benign
NM_002971.6(SATB1):c.2268C>T (p.Asp756=) single nucleotide variant not provided [RCV001727237] Chr3:18349194 [GRCh38]
Chr3:18390686 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1576G>A (p.Gly526Arg) single nucleotide variant not provided [RCV001755494] Chr3:18352195 [GRCh38]
Chr3:18393687 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.2207del (p.Asn736fs) deletion not provided [RCV001769636] Chr3:18349255 [GRCh38]
Chr3:18390747 [GRCh37]
Chr3:3p24.3		 uncertain significance
Single allele deletion 3p- syndrome [RCV002280352] Chr3:13371737..20095506 [GRCh38]
Chr3:3p25.1-24.3		 pathogenic
NM_002971.6(SATB1):c.1139G>A (p.Arg380His) single nucleotide variant Kohlschutter-Tonz syndrome-like [RCV001785345]|SATB1-related disorder [RCV003401715] Chr3:18394529 [GRCh38]
Chr3:18436021 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1779+665G>A single nucleotide variant not provided [RCV001764981] Chr3:18351327 [GRCh38]
Chr3:18392819 [GRCh37]
Chr3:3p24.3		 benign
NM_002971.6(SATB1):c.1876C>T (p.Pro626Ser) single nucleotide variant not provided [RCV003238582] Chr3:18349586 [GRCh38]
Chr3:18391078 [GRCh37]
Chr3:3p24.3		 uncertain significance
GRCh37/hg19 3p24.3(chr3:18004128-19575641)x1 copy number loss Developmental delay with dysmorphic facies and dental anomalies [RCV001801226] Chr3:18004128..19575641 [GRCh37]
Chr3:3p24.3		 pathogenic
CLCN2, LYS362DEL single nucleotide variant Familial hyperaldosteronism type II [RCV000677210] Chr3:18407478 [GRCh37]
Chr3:3p24.3		 pathogenic
NM_002971.6(SATB1):c.1877del (p.Pro626fs) deletion not provided [RCV001822028] Chr3:18349585 [GRCh38]
Chr3:18391077 [GRCh37]
Chr3:3p24.3		 pathogenic
NM_002971.6(SATB1):c.1779+680G>A single nucleotide variant Kohlschutter-Tonz syndrome-like [RCV001836682]|not provided [RCV003438877] Chr3:18351312 [GRCh38]
Chr3:18392804 [GRCh37]
Chr3:3p24.3		 likely pathogenic|uncertain significance
NM_002971.6(SATB1):c.468G>C (p.Met156Ile) single nucleotide variant SATB1-related neurodevelopmental disorder [RCV001839074] Chr3:18416054 [GRCh38]
Chr3:18457546 [GRCh37]
Chr3:3p24.3		 uncertain significance
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) copy number gain not specified [RCV002053299] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
NM_002971.6(SATB1):c.1924C>T (p.Arg642Ter) single nucleotide variant Developmental delay with dysmorphic facies and dental anomalies [RCV002468650]|not provided [RCV001978717] Chr3:18349538 [GRCh38]
Chr3:18391030 [GRCh37]
Chr3:3p24.3		 pathogenic
NC_000003.11:g.(?_16710965)_(41275270_?)del deletion not provided [RCV001958625] Chr3:16710965..41275270 [GRCh37]
Chr3:3p24.3-22.1		 pathogenic
NM_002971.6(SATB1):c.1925G>A (p.Arg642Gln) single nucleotide variant Developmental delay with dysmorphic facies and dental anomalies [RCV002226589] Chr3:18349537 [GRCh38]
Chr3:18391029 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.2009C>G (p.Pro670Arg) single nucleotide variant not provided [RCV003123269] Chr3:18349453 [GRCh38]
Chr3:18390945 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.923dup (p.Ser309fs) duplication Kohlschutter-Tonz syndrome-like [RCV003123289] Chr3:18394744..18394745 [GRCh38]
Chr3:18436236..18436237 [GRCh37]
Chr3:3p24.3		 likely pathogenic
NM_002971.6(SATB1):c.679A>G (p.Asn227Asp) single nucleotide variant not provided [RCV003149352] Chr3:18397251 [GRCh38]
Chr3:18438743 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.431dup (p.Tyr144Ter) duplication Developmental delay with dysmorphic facies and dental anomalies [RCV003148465] Chr3:18416090..18416091 [GRCh38]
Chr3:18457582..18457583 [GRCh37]
Chr3:3p24.3		 likely pathogenic
NM_002971.6(SATB1):c.1374G>A (p.Met458Ile) single nucleotide variant not provided [RCV003154413] Chr3:18386444 [GRCh38]
Chr3:18427936 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.541C>G (p.Pro181Ala) single nucleotide variant not provided [RCV002265282] Chr3:18415209 [GRCh38]
Chr3:18456701 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1055_1056del (p.Pro352fs) deletion Developmental delay with dysmorphic facies and dental anomalies [RCV004558918]|not provided [RCV002273681] Chr3:18394612..18394613 [GRCh38]
Chr3:18436104..18436105 [GRCh37]
Chr3:3p24.3		 likely pathogenic|uncertain significance
NM_002971.6(SATB1):c.1996G>A (p.Val666Met) single nucleotide variant not provided [RCV002293083] Chr3:18349466 [GRCh38]
Chr3:18390958 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.95G>A (p.Arg32His) single nucleotide variant Developmental delay with dysmorphic facies and dental anomalies [RCV003333252]|not provided [RCV003236152] Chr3:18420873 [GRCh38]
Chr3:18462365 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1782del (p.Gln594fs) deletion Neurodevelopmental disorder [RCV002277664] Chr3:18349680 [GRCh38]
Chr3:18391172 [GRCh37]
Chr3:3p24.3		 likely pathogenic
NM_002971.6(SATB1):c.1280G>A (p.Arg427Gln) single nucleotide variant not specified [RCV002287879] Chr3:18386538 [GRCh38]
Chr3:18428030 [GRCh37]
Chr3:3p24.3		 likely pathogenic
GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3 copy number gain See cases [RCV002287839] Chr3:13836340..25357427 [GRCh37]
Chr3:3p25.1-24.2		 pathogenic
NM_002971.6(SATB1):c.487G>A (p.Val163Met) single nucleotide variant not provided [RCV002269581] Chr3:18416035 [GRCh38]
Chr3:18457527 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1205A>G (p.Gln402Arg) single nucleotide variant not provided [RCV002293647] Chr3:18394463 [GRCh38]
Chr3:18435955 [GRCh37]
Chr3:3p24.3		 pathogenic
NM_002971.6(SATB1):c.1876_1978del (p.Pro626fs) deletion Neurodevelopmental delay [RCV002274417] Chr3:18349484..18349586 [GRCh38]
Chr3:18390976..18391078 [GRCh37]
Chr3:3p24.3		 pathogenic
NM_002971.6(SATB1):c.300G>A (p.Leu100=) single nucleotide variant SATB1-related disorder [RCV003933733]|not provided [RCV002263316] Chr3:18416990 [GRCh38]
Chr3:18458482 [GRCh37]
Chr3:3p24.3		 benign|likely benign
NM_002971.6(SATB1):c.1779+578C>T single nucleotide variant not specified [RCV004587669] Chr3:18351414 [GRCh38]
Chr3:18392906 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.2224del (p.Ser742fs) deletion not provided [RCV003129013] Chr3:18349238 [GRCh38]
Chr3:18390730 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.2218del (p.Leu740fs) deletion not provided [RCV002467041] Chr3:18349244 [GRCh38]
Chr3:18390736 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.542C>T (p.Pro181Leu) single nucleotide variant Developmental delay with dysmorphic facies and dental anomalies [RCV002468776] Chr3:18415208 [GRCh38]
Chr3:18456700 [GRCh37]
Chr3:3p24.3		 likely pathogenic
NM_002971.6(SATB1):c.1745C>A (p.Pro582His) single nucleotide variant not provided [RCV003230238] Chr3:18352026 [GRCh38]
Chr3:18393518 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1946C>T (p.Thr649Ile) single nucleotide variant not provided [RCV002462542] Chr3:18349516 [GRCh38]
Chr3:18391008 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1903G>T (p.Ala635Ser) single nucleotide variant Inborn genetic diseases [RCV002734425] Chr3:18349559 [GRCh38]
Chr3:18391051 [GRCh37]
Chr3:3p24.3		 likely benign
NM_002971.6(SATB1):c.1942C>T (p.Arg648Ter) single nucleotide variant not provided [RCV002461638] Chr3:18349520 [GRCh38]
Chr3:18391012 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1801CAG[9] (p.Gln607_Ala608insGlnGln) microsatellite Inborn genetic diseases [RCV002708794] Chr3:18349640..18349641 [GRCh38]
Chr3:18391132..18391133 [GRCh37]
Chr3:3p24.3		 likely benign
NM_002971.6(SATB1):c.2130del (p.Gly711fs) deletion not provided [RCV002572818] Chr3:18349332 [GRCh38]
Chr3:18390824 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.2156A>T (p.Tyr719Phe) single nucleotide variant Inborn genetic diseases [RCV002929835] Chr3:18349306 [GRCh38]
Chr3:18390798 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.804_806delinsGGGA (p.Asn268fs) indel Inborn genetic diseases [RCV002812418] Chr3:18394862..18394864 [GRCh38]
Chr3:18436354..18436356 [GRCh37]
Chr3:3p24.3		 pathogenic
NM_002971.6(SATB1):c.1913A>G (p.Asp638Gly) single nucleotide variant not provided [RCV003086940] Chr3:18349549 [GRCh38]
Chr3:18391041 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.2123A>T (p.Asp708Val) single nucleotide variant Inborn genetic diseases [RCV002831693] Chr3:18349339 [GRCh38]
Chr3:18390831 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.788G>T (p.Gly263Val) single nucleotide variant Inborn genetic diseases [RCV002832080] Chr3:18394880 [GRCh38]
Chr3:18436372 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.911A>T (p.His304Leu) single nucleotide variant not provided [RCV003327786] Chr3:18394757 [GRCh38]
Chr3:18436249 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.259A>G (p.Ile87Val) single nucleotide variant Developmental delay with dysmorphic facies and dental anomalies [RCV003142478] Chr3:18417031 [GRCh38]
Chr3:18458523 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1074T>G (p.Asn358Lys) single nucleotide variant Inborn genetic diseases [RCV003198629] Chr3:18394594 [GRCh38]
Chr3:18436086 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1877C>G (p.Pro626Arg) single nucleotide variant Inborn genetic diseases [RCV003220017] Chr3:18349585 [GRCh38]
Chr3:18391077 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.680del (p.Asn227fs) deletion not provided [RCV003228450] Chr3:18397250 [GRCh38]
Chr3:18438742 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.2137G>T (p.Glu713Ter) single nucleotide variant Kohlschutter-Tonz syndrome-like [RCV003224967] Chr3:18349325 [GRCh38]
Chr3:18390817 [GRCh37]
Chr3:3p24.3		 likely pathogenic
NM_002971.6(SATB1):c.-24-2A>G single nucleotide variant not provided [RCV003325046] Chr3:18420993 [GRCh38]
Chr3:18462485 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1247A>C (p.Lys416Thr) single nucleotide variant not provided [RCV003319887] Chr3:18386571 [GRCh38]
Chr3:18428063 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1066T>C (p.Ser356Pro) single nucleotide variant Inborn genetic diseases [RCV003266048] Chr3:18394602 [GRCh38]
Chr3:18436094 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1896dup (p.Ser633fs) duplication Developmental delay with dysmorphic facies and dental anomalies [RCV003326199] Chr3:18349565..18349566 [GRCh38]
Chr3:18391057..18391058 [GRCh37]
Chr3:3p24.3		 likely pathogenic
NM_002971.6(SATB1):c.1937G>T (p.Arg646Leu) single nucleotide variant SATB1-related disorder [RCV003397610] Chr3:18349525 [GRCh38]
Chr3:18391017 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1826C>A (p.Pro609Gln) single nucleotide variant Inborn genetic diseases [RCV003379140] Chr3:18349636 [GRCh38]
Chr3:18391128 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1523G>A (p.Arg508His) single nucleotide variant Inborn genetic diseases [RCV003385543] Chr3:18378222 [GRCh38]
Chr3:18419714 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1829C>T (p.Pro610Leu) single nucleotide variant Inborn genetic diseases [RCV003371886] Chr3:18349633 [GRCh38]
Chr3:18391125 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1152dup (p.Arg385fs) duplication Developmental delay with dysmorphic facies and dental anomalies [RCV003444492] Chr3:18394515..18394516 [GRCh38]
Chr3:18436007..18436008 [GRCh37]
Chr3:3p24.3		 pathogenic
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 copy number gain not provided [RCV003484107] Chr3:310747..28297447 [GRCh37]
Chr3:3p26.3-24.1		 pathogenic
NM_002971.6(SATB1):c.1392C>G (p.Ile464Met) single nucleotide variant SATB1-related disorder [RCV003402870] Chr3:18386426 [GRCh38]
Chr3:18427918 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.212-3T>C single nucleotide variant not provided [RCV003433496] Chr3:18417081 [GRCh38]
Chr3:18458573 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.117G>T (p.Pro39=) single nucleotide variant not provided [RCV003433498] Chr3:18420851 [GRCh38]
Chr3:18462343 [GRCh37]
Chr3:3p24.3		 likely benign
NM_002971.6(SATB1):c.1835_1837del (p.Pro612del) deletion not provided [RCV003437723] Chr3:18349625..18349627 [GRCh38]
Chr3:18391117..18391119 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1335G>A (p.Gln445=) single nucleotide variant not provided [RCV003437726] Chr3:18386483 [GRCh38]
Chr3:18427975 [GRCh37]
Chr3:3p24.3		 benign|likely benign
NM_002971.6(SATB1):c.1141G>A (p.Asp381Asn) single nucleotide variant not provided [RCV003442301] Chr3:18394527 [GRCh38]
Chr3:18436019 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1801CAG[8] (p.Gln607_Ala608insGln) microsatellite SATB1-related disorder [RCV003908939]|not provided [RCV003437724] Chr3:18349640..18349641 [GRCh38]
Chr3:18391132..18391133 [GRCh37]
Chr3:3p24.3		 likely benign
NM_002971.6(SATB1):c.1779+680_1779+681delinsAA indel not provided [RCV003433494] Chr3:18351311..18351312 [GRCh38]
Chr3:18392803..18392804 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.255C>T (p.Asn85=) single nucleotide variant not provided [RCV003433495] Chr3:18417035 [GRCh38]
Chr3:18458527 [GRCh37]
Chr3:3p24.3		 likely benign
NM_002971.6(SATB1):c.430T>C (p.Tyr144His) single nucleotide variant not provided [RCV003457109] Chr3:18416092 [GRCh38]
Chr3:18457584 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1779+681T>A single nucleotide variant not provided [RCV003437725] Chr3:18351311 [GRCh38]
Chr3:18392803 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1006C>T (p.Leu336Phe) single nucleotide variant SATB1-related disorder [RCV003416889] Chr3:18394662 [GRCh38]
Chr3:18436154 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.922G>A (p.Val308Ile) single nucleotide variant SATB1-related disorder [RCV003901064]|not provided [RCV003437728] Chr3:18394746 [GRCh38]
Chr3:18436238 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.640-6A>G single nucleotide variant not provided [RCV003437729] Chr3:18397296 [GRCh38]
Chr3:18438788 [GRCh37]
Chr3:3p24.3		 likely benign
NM_002971.6(SATB1):c.111G>A (p.Gly37=) single nucleotide variant not provided [RCV003437730] Chr3:18420857 [GRCh38]
Chr3:18462349 [GRCh37]
Chr3:3p24.3		 likely benign
NM_002971.6(SATB1):c.669T>G (p.Thr223=) single nucleotide variant SATB1-related disorder [RCV003400082] Chr3:18397261 [GRCh38]
Chr3:18438753 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.120A>G (p.Leu40=) single nucleotide variant not provided [RCV003433497] Chr3:18420848 [GRCh38]
Chr3:18462340 [GRCh37]
Chr3:3p24.3		 likely benign
NM_002971.6(SATB1):c.944A>G (p.Gln315Arg) single nucleotide variant Kohlschutter-Tonz syndrome-like [RCV003458952] Chr3:18394724 [GRCh38]
Chr3:18436216 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1308G>A (p.Pro436=) single nucleotide variant not provided [RCV003437727] Chr3:18386510 [GRCh38]
Chr3:18428002 [GRCh37]
Chr3:3p24.3		 likely benign
NM_002971.6(SATB1):c.1779+655_1779+703del deletion not provided [RCV003442654] Chr3:18351289..18351337 [GRCh38]
Chr3:18392781..18392829 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1522C>T (p.Arg508Cys) single nucleotide variant not provided [RCV003489418] Chr3:18378223 [GRCh38]
Chr3:18419715 [GRCh37]
Chr3:3p24.3		 likely pathogenic
NM_002971.6(SATB1):c.2218C>A (p.Leu740Ile) single nucleotide variant not provided [RCV003491431] Chr3:18349244 [GRCh38]
Chr3:18390736 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.260T>A (p.Ile87Asn) single nucleotide variant not provided [RCV003542517] Chr3:18417030 [GRCh38]
Chr3:18458522 [GRCh37]
Chr3:3p24.3		 uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 copy number gain not specified [RCV003986437] Chr3:61891..33946644 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NM_002971.6(SATB1):c.967A>G (p.Met323Val) single nucleotide variant Developmental delay with dysmorphic facies and dental anomalies [RCV003991920] Chr3:18394701 [GRCh38]
Chr3:18436193 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1922A>C (p.Asn641Thr) single nucleotide variant SATB1-related disorder [RCV003899715] Chr3:18349540 [GRCh38]
Chr3:18391032 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.2150C>T (p.Ala717Val) single nucleotide variant Developmental delay with dysmorphic facies and dental anomalies [RCV003990252] Chr3:18349312 [GRCh38]
Chr3:18390804 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1794ACAGCA[1] (p.Gln606_Gln607del) microsatellite not provided [RCV003885581] Chr3:18349657..18349662 [GRCh38]
Chr3:18391149..18391154 [GRCh37]
Chr3:3p24.3		 likely benign
NM_002971.6(SATB1):c.1173G>A (p.Ala391=) single nucleotide variant not provided [RCV003885998] Chr3:18394495 [GRCh38]
Chr3:18435987 [GRCh37]
Chr3:3p24.3		 likely benign
NM_002971.6(SATB1):c.1097C>T (p.Ser366Leu) single nucleotide variant SATB1-related disorder [RCV003976649] Chr3:18394571 [GRCh38]
Chr3:18436063 [GRCh37]
Chr3:3p24.3		 likely benign
NM_002971.6(SATB1):c.1801CAG[6] (p.Gln607del) microsatellite SATB1-related disorder [RCV003982288] Chr3:18349641..18349643 [GRCh38]
Chr3:18391133..18391135 [GRCh37]
Chr3:3p24.3		 benign
NM_002971.6(SATB1):c.1801CAG[14] (p.Gln607_Ala608insGlnGlnGlnGlnGlnGlnGln) microsatellite Developmental delay with dysmorphic facies and dental anomalies [RCV004547408] Chr3:18349640..18349641 [GRCh38]
Chr3:18391132..18391133 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1366_1371dup (p.Ala457_Met458insSerAla) duplication Developmental delay with dysmorphic facies and dental anomalies [RCV003988175] Chr3:18386446..18386447 [GRCh38]
Chr3:18427938..18427939 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.803A>C (p.Asn268Thr) single nucleotide variant Inborn genetic diseases [RCV004450250] Chr3:18394865 [GRCh38]
Chr3:18436357 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.2252T>C (p.Val751Ala) single nucleotide variant Inborn genetic diseases [RCV004450248] Chr3:18349210 [GRCh38]
Chr3:18390702 [GRCh37]
Chr3:3p24.3		 likely benign
NM_002971.6(SATB1):c.1229G>A (p.Arg410Gln) single nucleotide variant Inborn genetic diseases [RCV004450247] Chr3:18386589 [GRCh38]
Chr3:18428081 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.794A>G (p.Asn265Ser) single nucleotide variant Inborn genetic diseases [RCV004450249] Chr3:18394874 [GRCh38]
Chr3:18436366 [GRCh37]
Chr3:3p24.3		 uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3 copy number gain not provided [RCV004577500] Chr3:60000..34461438 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NM_002971.6(SATB1):c.1246A>G (p.Lys416Glu) single nucleotide variant not provided [RCV004590963] Chr3:18386572 [GRCh38]
Chr3:18428064 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1237dup (p.Glu413fs) duplication Inborn genetic diseases [RCV004658507] Chr3:18386580..18386581 [GRCh38]
Chr3:18428072..18428073 [GRCh37]
Chr3:3p24.3		 pathogenic
NM_002971.6(SATB1):c.1657C>T (p.Arg553Ter) single nucleotide variant Developmental delay with dysmorphic facies and dental anomalies [RCV004595372]|not provided [RCV004723616] Chr3:18352114 [GRCh38]
Chr3:18393606 [GRCh37]
Chr3:3p24.3		 pathogenic|uncertain significance
NM_002971.6(SATB1):c.1630A>G (p.Thr544Ala) single nucleotide variant Developmental delay with dysmorphic facies and dental anomalies [RCV004595846] Chr3:18352141 [GRCh38]
Chr3:18393633 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1928A>G (p.Gln643Arg) single nucleotide variant Inborn genetic diseases [RCV004658508] Chr3:18349534 [GRCh38]
Chr3:18391026 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1937G>A (p.Arg646Gln) single nucleotide variant Inborn genetic diseases [RCV004674492] Chr3:18349525 [GRCh38]
Chr3:18391017 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1480A>G (p.Ile494Val) single nucleotide variant not provided [RCV004770528] Chr3:18378265 [GRCh38]
Chr3:18419757 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.67C>G (p.Pro23Ala) single nucleotide variant Developmental delay with dysmorphic facies and dental anomalies [RCV004723672] Chr3:18420901 [GRCh38]
Chr3:18462393 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1877C>A (p.Pro626Gln) single nucleotide variant SATB1-related disorder [RCV004755658] Chr3:18349585 [GRCh38]
Chr3:18391077 [GRCh37]
Chr3:3p24.3		 likely benign
NM_002971.6(SATB1):c.68C>T (p.Pro23Leu) single nucleotide variant SATB1-related disorder [RCV004755320] Chr3:18420900 [GRCh38]
Chr3:18462392 [GRCh37]
Chr3:3p24.3		 likely benign
NM_002971.6(SATB1):c.137G>A (p.Gly46Glu) single nucleotide variant not provided [RCV004766131] Chr3:18420831 [GRCh38]
Chr3:18462323 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.54C>A (p.Asn18Lys) single nucleotide variant Developmental delay with dysmorphic facies and dental anomalies [RCV004723721] Chr3:18420914 [GRCh38]
Chr3:18462406 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1779+638G>C single nucleotide variant not provided [RCV004724151] Chr3:18351354 [GRCh38]
Chr3:18392846 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1206+3C>T single nucleotide variant SATB1-related disorder [RCV004732343] Chr3:18394459 [GRCh38]
Chr3:18435951 [GRCh37]
Chr3:3p24.3		 likely benign
NM_002971.6(SATB1):c.1135G>A (p.Val379Ile) single nucleotide variant not provided [RCV004776002] Chr3:18394533 [GRCh38]
Chr3:18436025 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.515+2T>C single nucleotide variant not provided [RCV004775129] Chr3:18416005 [GRCh38]
Chr3:18457497 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.625T>C (p.Cys209Arg) single nucleotide variant not provided [RCV004770464] Chr3:18415125 [GRCh38]
Chr3:18456617 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.507G>T (p.Gln169His) single nucleotide variant not provided [RCV004767891] Chr3:18416015 [GRCh38]
Chr3:18457507 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1195A>G (p.Asn399Asp) single nucleotide variant not provided [RCV004725741] Chr3:18394473 [GRCh38]
Chr3:18435965 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.552G>T (p.Trp184Cys) single nucleotide variant not provided [RCV004773772] Chr3:18415198 [GRCh38]
Chr3:18456690 [GRCh37]
Chr3:3p24.3		 uncertain significance
NM_002971.6(SATB1):c.1724A>C (p.His575Pro) single nucleotide variant not provided [RCV004761759]   uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR448hsa-miR-448Mirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//qFunctional MTI20798686
MIR448hsa-miR-448OncomiRDBexternal_infoNANA20798686
MIR191hsa-miR-191-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI23542418

Predicted Target Of
Summary Value
Count of predictions:4082
Count of miRNA genes:1223
Interacting mature miRNAs:1583
Transcripts:ENST00000338745, ENST00000414509, ENST00000415069, ENST00000417717, ENST00000440737, ENST00000444341, ENST00000450898, ENST00000452260, ENST00000454909, ENST00000457005, ENST00000467628, ENST00000475083, ENST00000476178, ENST00000482788, ENST00000487699, ENST00000491519, ENST00000493952, ENST00000606296
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406955361GWAS604337_HDuchenne muscular dystrophy, disease progression measurement QTL GWAS604337 (human)0.000006Duchenne muscular dystrophy, disease progression measurementdisease progression measurement (CMO:0001110)31836991618369917Human
407102800GWAS751776_Hage at menarche QTL GWAS751776 (human)4e-10age at menarche31838598518385986Human
406918196GWAS567172_Hvenous thromboembolism QTL GWAS567172 (human)0.0000008venous thromboembolism31842425818424259Human
407146755GWAS795731_Hchronic mucus hypersecretion QTL GWAS795731 (human)0.000004chronic mucus hypersecretion31835635718356358Human
406930009GWAS578985_Heducational attainment QTL GWAS578985 (human)3e-09educational attainment31841645118416452Human
406930008GWAS578984_Heducational attainment QTL GWAS578984 (human)8e-10educational attainment31839978518399786Human
2316345GLUCO224_HGlucose level QTL 224 (human)1.270.008Glucose level3121543441Human
407235246GWAS884222_Hatopic eczema QTL GWAS884222 (human)2e-19atopic eczema31837307818373079Human
407275771GWAS924747_Hbody height QTL GWAS924747 (human)3e-08body height (VT:0001253)body height (CMO:0000106)31839401018394011Human
407144233GWAS793209_Hbreast carcinoma QTL GWAS793209 (human)0.000006breast carcinoma31842224218422243Human
406887678GWAS536654_Hlung adenocarcinoma, family history of lung cancer QTL GWAS536654 (human)0.000006lung adenocarcinoma, family history of lung cancer31838787018387871Human

Markers in Region
SHGC-8047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37318,390,370 - 18,390,537UniSTSGRCh37
Build 36318,365,374 - 18,365,541RGDNCBI36
Celera318,328,517 - 18,328,684RGD
Cytogenetic Map3p23UniSTS
HuRef318,324,932 - 18,325,099UniSTS
GeneMap99-G3 RH Map37989.0UniSTS
SHGC-76756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37318,393,502 - 18,393,629UniSTSGRCh37
Build 36318,368,506 - 18,368,633RGDNCBI36
Celera318,331,649 - 18,331,776RGD
Cytogenetic Map3p23UniSTS
HuRef318,328,064 - 18,328,191UniSTS
TNG Radiation Hybrid Map311429.0UniSTS
GeneMap99-GB4 RH Map370.01UniSTS
RH91898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37318,398,132 - 18,398,265UniSTSGRCh37
Build 36318,373,136 - 18,373,269RGDNCBI36
Celera318,336,279 - 18,336,412RGD
Cytogenetic Map3p23UniSTS
HuRef318,332,694 - 18,332,827UniSTS
GeneMap99-GB4 RH Map370.99UniSTS
SHGC-82249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37318,449,869 - 18,450,150UniSTSGRCh37
Build 36318,424,873 - 18,425,154RGDNCBI36
Celera318,388,142 - 18,388,423RGD
Cytogenetic Map3p23UniSTS
HuRef318,384,427 - 18,384,708UniSTS
TNG Radiation Hybrid Map311395.0UniSTS
SHGC-148967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37318,389,162 - 18,389,432UniSTSGRCh37
Build 36318,364,166 - 18,364,436RGDNCBI36
Celera318,327,309 - 18,327,579RGD
Cytogenetic Map3p23UniSTS
HuRef318,323,724 - 18,323,994UniSTS
TNG Radiation Hybrid Map311446.0UniSTS
RH18154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37318,390,255 - 18,390,396UniSTSGRCh37
Build 36318,365,259 - 18,365,400RGDNCBI36
Celera318,328,402 - 18,328,543RGD
Cytogenetic Map3p23UniSTS
HuRef318,324,817 - 18,324,958UniSTS
RH68018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37318,459,359 - 18,459,461UniSTSGRCh37
Build 36318,434,363 - 18,434,465RGDNCBI36
Celera318,397,630 - 18,397,732RGD
Cytogenetic Map3p23UniSTS
HuRef318,393,917 - 18,394,019UniSTS
GeneMap99-GB4 RH Map370.99UniSTS
NCBI RH Map3198.8UniSTS
RH68415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37318,402,966 - 18,403,149UniSTSGRCh37
Build 36318,377,970 - 18,378,153RGDNCBI36
Celera318,341,111 - 18,341,294RGD
Cytogenetic Map3p23UniSTS
HuRef318,337,526 - 18,337,709UniSTS
GeneMap99-GB4 RH Map373.4UniSTS
NCBI RH Map3198.8UniSTS
STS-M97287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37318,390,258 - 18,390,424UniSTSGRCh37
Build 36318,365,262 - 18,365,428RGDNCBI36
Celera318,328,405 - 18,328,571RGD
Cytogenetic Map3p23UniSTS
HuRef318,324,820 - 18,324,986UniSTS
GeneMap99-GB4 RH Map373.4UniSTS
NCBI RH Map3198.8UniSTS
SATB1_8610  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37318,390,127 - 18,390,979UniSTSGRCh37
Build 36318,365,131 - 18,365,983RGDNCBI36
Celera318,328,274 - 18,329,126RGD
HuRef318,324,689 - 18,325,541UniSTS
D3S4360  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37318,487,759 - 18,487,942UniSTSGRCh37
Build 36318,462,763 - 18,462,946RGDNCBI36
Celera318,426,076 - 18,426,259RGD
HuRef318,422,061 - 18,422,244UniSTS
SGC34436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37318,402,915 - 18,403,018UniSTSGRCh37
Build 36318,377,919 - 18,378,022RGDNCBI36
Celera318,341,060 - 18,341,163RGD
Cytogenetic Map3p23UniSTS
HuRef318,337,475 - 18,337,578UniSTS
GeneMap99-GB4 RH Map369.36UniSTS
Whitehead-RH Map381.0UniSTS
D3S4171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37318,390,372 - 18,390,558UniSTSGRCh37
Build 36318,365,376 - 18,365,562RGDNCBI36
Celera318,328,519 - 18,328,705RGD
Cytogenetic Map3p23UniSTS
HuRef318,324,934 - 18,325,120UniSTS
Stanford-G3 RH Map37519.0UniSTS
NCBI RH Map3199.4UniSTS
GeneMap99-G3 RH Map37989.0UniSTS
SHGC-76759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37318,465,633 - 18,465,785UniSTSGRCh37
Build 36318,440,637 - 18,440,789RGDNCBI36
Celera318,403,903 - 18,404,055RGD
Cytogenetic Map3p23UniSTS
Cytogenetic Map3p21.3UniSTS
HuRef318,400,190 - 18,400,342UniSTS
TNG Radiation Hybrid Map311395.0UniSTS
GeneMap99-GB4 RH Map372.57UniSTS
NCBI RH Map3198.8UniSTS
G09847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37318,391,046 - 18,391,193UniSTSGRCh37
Build 36318,366,050 - 18,366,197RGDNCBI36
Celera318,329,193 - 18,329,340RGD
Cytogenetic Map3p23UniSTS
HuRef318,325,608 - 18,325,755UniSTS
G64287  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p23UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2419 2788 2244 4950 1718 2324 4 617 1858 460 2264 7175 6363 50 3720 838 1713 1597 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001131010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054347484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA001621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC144521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU127749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE218845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI494258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD677701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA938384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB134320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB141938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB347409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN344109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI589661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC304900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN626687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M97287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U92993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000338745   ⟹   ENSP00000341024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,345,377 - 18,425,339 (-)Ensembl
Ensembl Acc Id: ENST00000414509   ⟹   ENSP00000408871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,416,942 - 18,438,692 (-)Ensembl
Ensembl Acc Id: ENST00000415069   ⟹   ENSP00000390529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,348,888 - 18,445,621 (-)Ensembl
Ensembl Acc Id: ENST00000417717   ⟹   ENSP00000399518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,347,940 - 18,424,573 (-)Ensembl
Ensembl Acc Id: ENST00000440737   ⟹   ENSP00000402982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,397,256 - 18,444,883 (-)Ensembl
Ensembl Acc Id: ENST00000444341   ⟹   ENSP00000391344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,420,756 - 18,435,253 (-)Ensembl
Ensembl Acc Id: ENST00000450898   ⟹   ENSP00000394520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,420,944 - 18,425,369 (-)Ensembl
Ensembl Acc Id: ENST00000452260   ⟹   ENSP00000406727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,416,004 - 18,421,388 (-)Ensembl
Ensembl Acc Id: ENST00000454909   ⟹   ENSP00000399708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,347,940 - 18,438,773 (-)Ensembl
Ensembl Acc Id: ENST00000457005   ⟹   ENSP00000398072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,349,170 - 18,424,740 (-)Ensembl
Ensembl Acc Id: ENST00000467628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,351,803 - 18,378,327 (-)Ensembl
Ensembl Acc Id: ENST00000475083   ⟹   ENSP00000480000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,397,214 - 18,417,510 (-)Ensembl
Ensembl Acc Id: ENST00000476178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,349,541 - 18,351,531 (-)Ensembl
Ensembl Acc Id: ENST00000482788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,414,949 - 18,416,126 (-)Ensembl
Ensembl Acc Id: ENST00000487699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,420,685 - 18,438,734 (-)Ensembl
Ensembl Acc Id: ENST00000491519   ⟹   ENSP00000479866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,410,798 - 18,417,393 (-)Ensembl
Ensembl Acc Id: ENST00000493952   ⟹   ENSP00000453908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,417,576 - 18,444,873 (-)Ensembl
Ensembl Acc Id: ENST00000606296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,348,885 - 18,353,084 (-)Ensembl
Ensembl Acc Id: ENST00000700177   ⟹   ENSP00000514845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,348,380 - 18,426,074 (-)Ensembl
Ensembl Acc Id: ENST00000700178   ⟹   ENSP00000514846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,348,405 - 18,424,394 (-)Ensembl
Ensembl Acc Id: ENST00000700179   ⟹   ENSP00000514847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,348,488 - 18,425,310 (-)Ensembl
Ensembl Acc Id: ENST00000700180   ⟹   ENSP00000514848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,348,780 - 18,445,598 (-)Ensembl
Ensembl Acc Id: ENST00000700181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl318,373,964 - 18,394,570 (-)Ensembl
RefSeq Acc Id: NM_001131010   ⟹   NP_001124482
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,345,377 - 18,438,736 (-)NCBI
GRCh37318,389,133 - 18,480,265 (-)ENTREZGENE
HuRef318,323,695 - 18,414,820 (-)ENTREZGENE
CHM1_1318,339,776 - 18,433,152 (-)NCBI
T2T-CHM13v2.0318,347,503 - 18,440,847 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001195470   ⟹   NP_001182399
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,345,377 - 18,425,339 (-)NCBI
GRCh37318,389,133 - 18,480,265 (-)ENTREZGENE
HuRef318,323,695 - 18,414,820 (-)ENTREZGENE
CHM1_1318,339,776 - 18,419,716 (-)NCBI
T2T-CHM13v2.0318,347,503 - 18,427,451 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322871   ⟹   NP_001309800
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,345,377 - 18,444,872 (-)NCBI
CHM1_1318,339,776 - 18,439,242 (-)NCBI
T2T-CHM13v2.0318,347,503 - 18,446,983 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322872   ⟹   NP_001309801
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,345,377 - 18,445,592 (-)NCBI
CHM1_1318,339,776 - 18,439,941 (-)NCBI
T2T-CHM13v2.0318,347,503 - 18,447,703 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322873   ⟹   NP_001309802
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,345,377 - 18,444,872 (-)NCBI
CHM1_1318,339,776 - 18,439,242 (-)NCBI
T2T-CHM13v2.0318,347,503 - 18,446,983 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322874   ⟹   NP_001309803
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,345,377 - 18,445,592 (-)NCBI
CHM1_1318,339,776 - 18,439,941 (-)NCBI
T2T-CHM13v2.0318,347,503 - 18,447,703 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322875   ⟹   NP_001309804
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,345,377 - 18,444,118 (-)NCBI
CHM1_1318,339,776 - 18,438,497 (-)NCBI
T2T-CHM13v2.0318,347,503 - 18,446,229 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322876   ⟹   NP_001309805
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,345,377 - 18,444,872 (-)NCBI
CHM1_1318,339,776 - 18,439,242 (-)NCBI
T2T-CHM13v2.0318,347,503 - 18,446,983 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002971   ⟹   NP_002962
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,345,377 - 18,425,339 (-)NCBI
GRCh37318,389,133 - 18,480,265 (-)ENTREZGENE
Build 36318,364,438 - 18,440,344 (-)NCBI Archive
HuRef318,323,695 - 18,414,820 (-)ENTREZGENE
CHM1_1318,339,776 - 18,419,716 (-)NCBI
T2T-CHM13v2.0318,347,503 - 18,427,451 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533988   ⟹   XP_011532290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,345,377 - 18,438,736 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533989   ⟹   XP_011532291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,345,377 - 18,445,592 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011533990   ⟹   XP_011532292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,356,493 - 18,425,339 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047448683   ⟹   XP_047304639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,356,493 - 18,444,872 (-)NCBI
RefSeq Acc Id: XM_054347481   ⟹   XP_054203456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0318,347,503 - 18,440,847 (-)NCBI
RefSeq Acc Id: XM_054347482   ⟹   XP_054203457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0318,347,503 - 18,447,703 (-)NCBI
RefSeq Acc Id: XM_054347483   ⟹   XP_054203458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0318,362,637 - 18,427,451 (-)NCBI
RefSeq Acc Id: XM_054347484   ⟹   XP_054203459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0318,362,637 - 18,446,983 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001124482 (Get FASTA)   NCBI Sequence Viewer  
  NP_001182399 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309800 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309801 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309802 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309803 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309804 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309805 (Get FASTA)   NCBI Sequence Viewer  
  NP_002962 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532290 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532291 (Get FASTA)   NCBI Sequence Viewer  
  XP_011532292 (Get FASTA)   NCBI Sequence Viewer  
  XP_047304639 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203456 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203457 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203458 (Get FASTA)   NCBI Sequence Viewer  
  XP_054203459 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA60304 (Get FASTA)   NCBI Sequence Viewer  
  AAH01744 (Get FASTA)   NCBI Sequence Viewer  
  BAD92998 (Get FASTA)   NCBI Sequence Viewer  
  BAG54463 (Get FASTA)   NCBI Sequence Viewer  
  CAY55990 (Get FASTA)   NCBI Sequence Viewer  
  CBX55095 (Get FASTA)   NCBI Sequence Viewer  
  CDM55585 (Get FASTA)   NCBI Sequence Viewer  
  CEH24702 (Get FASTA)   NCBI Sequence Viewer  
  EAW64291 (Get FASTA)   NCBI Sequence Viewer  
  EAW64292 (Get FASTA)   NCBI Sequence Viewer  
  EAW64293 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000341024
  ENSP00000341024.5
  ENSP00000390529
  ENSP00000390529.1
  ENSP00000390529.2
  ENSP00000391344.1
  ENSP00000394520.1
  ENSP00000398072.1
  ENSP00000398072.2
  ENSP00000399518
  ENSP00000399518.1
  ENSP00000399708
  ENSP00000399708.2
  ENSP00000402982.1
  ENSP00000406727.2
  ENSP00000408871.1
  ENSP00000453908.1
  ENSP00000514845.1
  ENSP00000514846
  ENSP00000514846.1
  ENSP00000514847.1
  ENSP00000514848
  ENSP00000514848.1
GenBank Protein Q01826 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001124482   ⟸   NM_001131010
- Peptide Label: isoform 1
- UniProtKB: C9JTR6 (UniProtKB/Swiss-Prot),   B3KXF1 (UniProtKB/Swiss-Prot),   Q59EQ0 (UniProtKB/Swiss-Prot),   Q01826 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002962   ⟸   NM_002971
- Peptide Label: isoform 1
- UniProtKB: C9JTR6 (UniProtKB/Swiss-Prot),   B3KXF1 (UniProtKB/Swiss-Prot),   Q59EQ0 (UniProtKB/Swiss-Prot),   Q01826 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001182399   ⟸   NM_001195470
- Peptide Label: isoform 2
- UniProtKB: Q01826 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011532291   ⟸   XM_011533989
- Peptide Label: isoform X1
- UniProtKB: Q01826 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011532290   ⟸   XM_011533988
- Peptide Label: isoform X1
- UniProtKB: Q01826 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011532292   ⟸   XM_011533990
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001309803   ⟸   NM_001322874
- Peptide Label: isoform 1
- UniProtKB: C9JTR6 (UniProtKB/Swiss-Prot),   B3KXF1 (UniProtKB/Swiss-Prot),   Q59EQ0 (UniProtKB/Swiss-Prot),   Q01826 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309801   ⟸   NM_001322872
- Peptide Label: isoform 1
- UniProtKB: C9JTR6 (UniProtKB/Swiss-Prot),   B3KXF1 (UniProtKB/Swiss-Prot),   Q59EQ0 (UniProtKB/Swiss-Prot),   Q01826 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309805   ⟸   NM_001322876
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001309802   ⟸   NM_001322873
- Peptide Label: isoform 1
- UniProtKB: C9JTR6 (UniProtKB/Swiss-Prot),   B3KXF1 (UniProtKB/Swiss-Prot),   Q59EQ0 (UniProtKB/Swiss-Prot),   Q01826 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309800   ⟸   NM_001322871
- Peptide Label: isoform 2
- UniProtKB: Q01826 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001309804   ⟸   NM_001322875
- Peptide Label: isoform 1
- UniProtKB: C9JTR6 (UniProtKB/Swiss-Prot),   B3KXF1 (UniProtKB/Swiss-Prot),   Q59EQ0 (UniProtKB/Swiss-Prot),   Q01826 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000394520   ⟸   ENST00000450898
Ensembl Acc Id: ENSP00000406727   ⟸   ENST00000452260
Ensembl Acc Id: ENSP00000479866   ⟸   ENST00000491519
Ensembl Acc Id: ENSP00000408871   ⟸   ENST00000414509
Ensembl Acc Id: ENSP00000402982   ⟸   ENST00000440737
Ensembl Acc Id: ENSP00000453908   ⟸   ENST00000493952
Ensembl Acc Id: ENSP00000399708   ⟸   ENST00000454909
Ensembl Acc Id: ENSP00000390529   ⟸   ENST00000415069
Ensembl Acc Id: ENSP00000341024   ⟸   ENST00000338745
Ensembl Acc Id: ENSP00000399518   ⟸   ENST00000417717
Ensembl Acc Id: ENSP00000398072   ⟸   ENST00000457005
Ensembl Acc Id: ENSP00000391344   ⟸   ENST00000444341
Ensembl Acc Id: ENSP00000480000   ⟸   ENST00000475083
RefSeq Acc Id: XP_047304639   ⟸   XM_047448683
- Peptide Label: isoform X2
Ensembl Acc Id: ENSP00000514847   ⟸   ENST00000700179
Ensembl Acc Id: ENSP00000514846   ⟸   ENST00000700178
Ensembl Acc Id: ENSP00000514848   ⟸   ENST00000700180
Ensembl Acc Id: ENSP00000514845   ⟸   ENST00000700177
RefSeq Acc Id: XP_054203457   ⟸   XM_054347482
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203456   ⟸   XM_054347481
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203459   ⟸   XM_054347484
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054203458   ⟸   XM_054347483
- Peptide Label: isoform X2
Protein Domains
CUTL   ULD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q01826-F1-model_v2 AlphaFold Q01826 1-763 view protein structure

Promoters
RGD ID:6863746
Promoter ID:EPDNEW_H5038
Type:initiation region
Name:SATB1_5
Description:SATB homeobox 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5039  EPDNEW_H5040  EPDNEW_H5041  EPDNEW_H5042  EPDNEW_H5043  EPDNEW_H5044  EPDNEW_H5045  EPDNEW_H5046  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,349,447 - 18,349,507EPDNEW
RGD ID:6801622
Promoter ID:HG_KWN:43996
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat,   NB4
Transcripts:OTTHUMT00000339419
Position:
Human AssemblyChrPosition (strand)Source
Build 36318,367,791 - 18,368,667 (-)MPROMDB
RGD ID:6801623
Promoter ID:HG_KWN:43997
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat
Transcripts:OTTHUMT00000339420
Position:
Human AssemblyChrPosition (strand)Source
Build 36318,387,109 - 18,387,609 (-)MPROMDB
RGD ID:6801621
Promoter ID:HG_KWN:43998
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat
Transcripts:OTTHUMT00000339418
Position:
Human AssemblyChrPosition (strand)Source
Build 36318,394,534 - 18,395,034 (-)MPROMDB
RGD ID:6801624
Promoter ID:HG_KWN:43999
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat
Transcripts:OTTHUMT00000339421
Position:
Human AssemblyChrPosition (strand)Source
Build 36318,411,116 - 18,411,952 (-)MPROMDB
RGD ID:6863748
Promoter ID:EPDNEW_H5039
Type:initiation region
Name:SATB1_9
Description:SATB homeobox 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5038  EPDNEW_H5040  EPDNEW_H5041  EPDNEW_H5042  EPDNEW_H5043  EPDNEW_H5044  EPDNEW_H5045  EPDNEW_H5046  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,423,811 - 18,423,871EPDNEW
RGD ID:6863750
Promoter ID:EPDNEW_H5040
Type:initiation region
Name:SATB1_4
Description:SATB homeobox 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5038  EPDNEW_H5039  EPDNEW_H5041  EPDNEW_H5042  EPDNEW_H5043  EPDNEW_H5044  EPDNEW_H5045  EPDNEW_H5046  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,424,185 - 18,424,245EPDNEW
RGD ID:6863752
Promoter ID:EPDNEW_H5041
Type:initiation region
Name:SATB1_1
Description:SATB homeobox 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5038  EPDNEW_H5039  EPDNEW_H5040  EPDNEW_H5042  EPDNEW_H5043  EPDNEW_H5044  EPDNEW_H5045  EPDNEW_H5046  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,425,339 - 18,425,399EPDNEW
RGD ID:6863754
Promoter ID:EPDNEW_H5042
Type:multiple initiation site
Name:SATB1_2
Description:SATB homeobox 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5038  EPDNEW_H5039  EPDNEW_H5040  EPDNEW_H5041  EPDNEW_H5043  EPDNEW_H5044  EPDNEW_H5045  EPDNEW_H5046  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,425,455 - 18,425,515EPDNEW
RGD ID:6801618
Promoter ID:HG_KWN:44000
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   NB4
Transcripts:OTTHUMT00000339417
Position:
Human AssemblyChrPosition (strand)Source
Build 36318,431,666 - 18,432,667 (-)MPROMDB
RGD ID:6801617
Promoter ID:HG_KWN:44001
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000339416
Position:
Human AssemblyChrPosition (strand)Source
Build 36318,433,116 - 18,433,616 (-)MPROMDB
RGD ID:6801615
Promoter ID:HG_KWN:44002
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000339372,   OTTHUMT00000339415
Position:
Human AssemblyChrPosition (strand)Source
Build 36318,433,716 - 18,434,667 (-)MPROMDB
RGD ID:6801616
Promoter ID:HG_KWN:44003
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:OTTHUMT00000339371
Position:
Human AssemblyChrPosition (strand)Source
Build 36318,437,016 - 18,437,516 (-)MPROMDB
RGD ID:6863756
Promoter ID:EPDNEW_H5043
Type:initiation region
Name:SATB1_3
Description:SATB homeobox 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5038  EPDNEW_H5039  EPDNEW_H5040  EPDNEW_H5041  EPDNEW_H5042  EPDNEW_H5044  EPDNEW_H5045  EPDNEW_H5046  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,438,734 - 18,438,794EPDNEW
RGD ID:6801625
Promoter ID:HG_KWN:44004
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   NB4
Transcripts:NM_002971,   OTTHUMT00000339369,   OTTHUMT00000339370,   UC003CBI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36318,440,566 - 18,442,567 (-)MPROMDB
RGD ID:6863758
Promoter ID:EPDNEW_H5044
Type:initiation region
Name:SATB1_6
Description:SATB homeobox 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5038  EPDNEW_H5039  EPDNEW_H5040  EPDNEW_H5041  EPDNEW_H5042  EPDNEW_H5043  EPDNEW_H5045  EPDNEW_H5046  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,444,753 - 18,444,813EPDNEW
RGD ID:6863760
Promoter ID:EPDNEW_H5045
Type:initiation region
Name:SATB1_8
Description:SATB homeobox 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5038  EPDNEW_H5039  EPDNEW_H5040  EPDNEW_H5041  EPDNEW_H5042  EPDNEW_H5043  EPDNEW_H5044  EPDNEW_H5046  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,445,592 - 18,445,652EPDNEW
RGD ID:6863762
Promoter ID:EPDNEW_H5046
Type:multiple initiation site
Name:SATB1_7
Description:SATB homeobox 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5038  EPDNEW_H5039  EPDNEW_H5040  EPDNEW_H5041  EPDNEW_H5042  EPDNEW_H5043  EPDNEW_H5044  EPDNEW_H5045  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38318,445,891 - 18,445,951EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10541 AgrOrtholog
COSMIC SATB1 COSMIC
Ensembl Genes ENSG00000182568 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000338745 ENTREZGENE
  ENST00000338745.11 UniProtKB/Swiss-Prot
  ENST00000414509.5 UniProtKB/TrEMBL
  ENST00000415069 ENTREZGENE
  ENST00000415069.5 UniProtKB/TrEMBL
  ENST00000415069.6 UniProtKB/Swiss-Prot
  ENST00000417717 ENTREZGENE
  ENST00000417717.6 UniProtKB/Swiss-Prot
  ENST00000440737.5 UniProtKB/TrEMBL
  ENST00000444341.1 UniProtKB/TrEMBL
  ENST00000450898.1 UniProtKB/TrEMBL
  ENST00000452260.6 UniProtKB/TrEMBL
  ENST00000454909 ENTREZGENE
  ENST00000454909.6 UniProtKB/Swiss-Prot
  ENST00000457005.5 UniProtKB/TrEMBL
  ENST00000457005.6 UniProtKB/Swiss-Prot
  ENST00000493952.2 UniProtKB/TrEMBL
  ENST00000700177.1 UniProtKB/Swiss-Prot
  ENST00000700178 ENTREZGENE
  ENST00000700178.1 UniProtKB/Swiss-Prot
  ENST00000700179.1 UniProtKB/Swiss-Prot
  ENST00000700180 ENTREZGENE
  ENST00000700180.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.260.40 UniProtKB/Swiss-Prot
  1.10.260.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.10.20.710 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeodomain-like UniProtKB/Swiss-Prot
GTEx ENSG00000182568 GTEx
HGNC ID HGNC:10541 ENTREZGENE
Human Proteome Map SATB1 Human Proteome Map
InterPro CUT_dom UniProtKB/Swiss-Prot
  CUTL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeobox-like_sf UniProtKB/Swiss-Prot
  Homeobox_dom UniProtKB/Swiss-Prot
  Lambda_DNA-bd_dom_sf UniProtKB/Swiss-Prot
  SATB1/SATB2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SATB_CUTL_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SATB_ULD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ULD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6304 UniProtKB/Swiss-Prot
NCBI Gene 6304 ENTREZGENE
OMIM 602075 OMIM
PANTHER DNA-BINDING PROTEIN SATB1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15116 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CUT UniProtKB/Swiss-Prot
  CUTL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Homeodomain UniProtKB/Swiss-Prot
  ULD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34951 PharmGKB
PROSITE CUT UniProtKB/Swiss-Prot
  CUTL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HOMEOBOX_2 UniProtKB/Swiss-Prot
  ULD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CUT UniProtKB/Swiss-Prot
  HOX UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot
  SSF47413 UniProtKB/Swiss-Prot
UniProt A0A0B6XK52_HUMAN UniProtKB/TrEMBL
  A0A1D5RMP0_HUMAN UniProtKB/TrEMBL
  B3KXF1 ENTREZGENE
  C9IZC5_HUMAN UniProtKB/TrEMBL
  C9J3I0_HUMAN UniProtKB/TrEMBL
  C9J7F3_HUMAN UniProtKB/TrEMBL
  C9JGL9_HUMAN UniProtKB/TrEMBL
  C9JLL5_HUMAN UniProtKB/TrEMBL
  C9JP21_HUMAN UniProtKB/TrEMBL
  C9JTR6 ENTREZGENE
  H0YN86_HUMAN UniProtKB/TrEMBL
  Q01826 ENTREZGENE
  Q59EQ0 ENTREZGENE
  SATB1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KXF1 UniProtKB/Swiss-Prot
  C9JTR6 UniProtKB/Swiss-Prot
  Q59EQ0 UniProtKB/Swiss-Prot