TOX3 (TOX high mobility group box family member 3) - Rat Genome Database

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Gene: TOX3 (TOX high mobility group box family member 3) Homo sapiens
Analyze
Symbol: TOX3
Name: TOX high mobility group box family member 3
RGD ID: 1323035
HGNC Page HGNC:11972
Description: Enables several functions, including phosphoprotein binding activity; protein homodimerization activity; and transcription coactivator activity. Involved in negative regulation of neuron apoptotic process and positive regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CAG trinucleotide repeat-containing gene F9 protein; CAGF9; TNRC9; trinucleotide repeat containing 9; trinucleotide repeat-containing gene 9 protein
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
GRCh381652,436,416 - 52,547,802 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1652,436,417 - 52,547,802 (-)EnsemblGRCh38hg38GRCh38
GRCh371652,470,328 - 52,581,714 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361651,029,418 - 51,138,307 (-)NCBINCBI36Build 36hg18NCBI36
Celera1636,987,398 - 37,097,166 (-)NCBICelera
Cytogenetic Map16q12.1NCBI
HuRef1638,359,856 - 38,469,498 (-)NCBIHuRef
CHM1_11653,879,440 - 53,989,145 (-)NCBICHM1_1
T2T-CHM13v2.01658,234,308 - 58,345,684 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
amphotericin B  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
chlordecone  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP)
dioxygen  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
fenvalerate  (ISO)
folic acid  (ISO)
glyphosate  (ISO)
iron dichloride  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
leflunomide  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
methapyrilene  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
nevirapine  (ISO)
nickel atom  (EXP)
nitrofen  (ISO)
O-methyleugenol  (EXP)
orphenadrine  (ISO)
ozone  (ISO)
panobinostat  (EXP)
PCB138  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP)
phenylmercury acetate  (EXP)
progesterone  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
tamoxifen  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IEA)

Molecular Function

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:9225980   PMID:12697058   PMID:14702039   PMID:17529967   PMID:17529974   PMID:17997823   PMID:18355772   PMID:18437204   PMID:19094228   PMID:19232126   PMID:19274049   PMID:19330030  
PMID:19617217   PMID:19789366   PMID:19843670   PMID:19856316   PMID:20054709   PMID:20145138   PMID:20213080   PMID:20237344   PMID:20332101   PMID:20379614   PMID:20406955   PMID:20417875  
PMID:20453838   PMID:20502973   PMID:20585626   PMID:20605201   PMID:20664043   PMID:20703937   PMID:20872241   PMID:21172805   PMID:21263130   PMID:21779176   PMID:21873635   PMID:22496870  
PMID:22885925   PMID:23001122   PMID:23001124   PMID:23021931   PMID:23110726   PMID:23270421   PMID:23447579   PMID:23468243   PMID:23535729   PMID:23535733   PMID:24069142   PMID:24069272  
PMID:24143190   PMID:24446301   PMID:24481062   PMID:24493630   PMID:24532140   PMID:25142570   PMID:25311971   PMID:25327703   PMID:25531440   PMID:25632947   PMID:25956309   PMID:26224856  
PMID:26239137   PMID:26638075   PMID:26803517   PMID:26911390   PMID:26912792   PMID:27486757   PMID:27525937   PMID:27572905   PMID:27806084   PMID:28537684   PMID:28611215   PMID:29286526  
PMID:29404899   PMID:29578175   PMID:30078824   PMID:30515698   PMID:30772441   PMID:30924295   PMID:31454102   PMID:31706190   PMID:31819019   PMID:32296183   PMID:32877691   PMID:33716953  
PMID:33740609   PMID:34079125   PMID:34260521   PMID:35200585   PMID:35347804   PMID:36215168  


Genomics

Comparative Map Data
TOX3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381652,436,416 - 52,547,802 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1652,436,417 - 52,547,802 (-)EnsemblGRCh38hg38GRCh38
GRCh371652,470,328 - 52,581,714 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361651,029,418 - 51,138,307 (-)NCBINCBI36Build 36hg18NCBI36
Celera1636,987,398 - 37,097,166 (-)NCBICelera
Cytogenetic Map16q12.1NCBI
HuRef1638,359,856 - 38,469,498 (-)NCBIHuRef
CHM1_11653,879,440 - 53,989,145 (-)NCBICHM1_1
T2T-CHM13v2.01658,234,308 - 58,345,684 (-)NCBIT2T-CHM13v2.0
Tox3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39890,973,665 - 91,075,746 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl890,973,668 - 91,074,971 (-)EnsemblGRCm39 Ensembl
GRCm38890,247,110 - 90,349,029 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl890,247,040 - 90,348,343 (-)EnsemblGRCm38mm10GRCm38
MGSCv37892,771,009 - 92,872,151 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36893,137,145 - 93,238,357 (-)NCBIMGSCv36mm8
Celera894,556,870 - 94,657,697 (-)NCBICelera
Cytogenetic Map8C4NCBI
cM Map843.96NCBI
Tox3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81932,820,957 - 32,929,776 (+)NCBIGRCr8
mRatBN7.21916,648,338 - 16,757,151 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1916,648,342 - 16,757,148 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1918,333,723 - 18,442,203 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01923,528,296 - 23,636,779 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01926,480,173 - 26,589,136 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01918,079,022 - 18,188,366 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1918,079,094 - 18,188,330 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01929,134,015 - 29,241,570 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41917,945,550 - 17,975,738 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11917,871,205 - 17,980,560 (+)NCBI
Celera1916,625,712 - 16,655,906 (+)NCBICelera
Cytogenetic Map19p11NCBI
Tox3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543310,327,342 - 10,426,540 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543310,328,886 - 10,426,540 (-)NCBIChiLan1.0ChiLan1.0
TOX3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21861,882,934 - 61,995,345 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11667,802,062 - 67,912,776 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01632,690,290 - 32,800,974 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11651,570,692 - 51,679,332 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1651,570,692 - 51,679,332 (-)Ensemblpanpan1.1panPan2
TOX3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1262,981,706 - 63,087,519 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl262,981,611 - 63,086,684 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha259,551,572 - 59,657,647 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0263,524,396 - 63,630,965 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl263,525,270 - 63,630,127 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1260,347,846 - 60,453,909 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0261,368,939 - 61,475,720 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0262,252,600 - 62,358,859 (+)NCBIUU_Cfam_GSD_1.0
Tox3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934954,200,946 - 54,305,460 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364755,283,622 - 5,388,067 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364755,283,615 - 5,388,104 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TOX3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl632,494,236 - 32,609,926 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1632,492,686 - 32,609,923 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2629,293,934 - 29,420,230 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TOX3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1538,197,059 - 38,304,582 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl538,197,066 - 38,304,264 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604738,104,732 - 38,213,117 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tox3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247574,168,672 - 4,276,392 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247574,144,799 - 4,275,154 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TOX3
40 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001146188.1(TOX3):c.76-20579A>T single nucleotide variant Lung cancer [RCV000099989] Chr16:52489153 [GRCh38]
Chr16:52523065 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001146188.1(TOX3):c.75+5866A>T single nucleotide variant Lung cancer [RCV000099990] Chr16:52513540 [GRCh38]
Chr16:52547452 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001146188.1(TOX3):c.-100+11611A>T single nucleotide variant Lung cancer [RCV000099991] Chr16:52536103 [GRCh38]
Chr16:52570015 [GRCh37]
Chr16:16q12.1		 uncertain significance
GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1 copy number loss See cases [RCV000053329] Chr16:47250644..54121476 [GRCh38]
Chr16:47284555..54155388 [GRCh37]
Chr16:45842056..52712889 [NCBI36]
Chr16:16q12.1-12.2		 pathogenic
GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1 copy number loss See cases [RCV000053332] Chr16:50784329..55566715 [GRCh38]
Chr16:50818240..55600627 [GRCh37]
Chr16:49375741..54158128 [NCBI36]
Chr16:16q12.1-12.2		 pathogenic
NM_001146188.1(TOX3):c.344G>A (p.Arg115Lys) single nucleotide variant Malignant melanoma [RCV000071158] Chr16:52463983 [GRCh38]
Chr16:52497895 [GRCh37]
Chr16:51055396 [NCBI36]
Chr16:16q12.1		 not provided
GRCh38/hg38 16q12.1(chr16:51275229-52592217)x1 copy number loss See cases [RCV000135486] Chr16:51275229..52592217 [GRCh38]
Chr16:51309140..52626129 [GRCh37]
Chr16:49866641..51183630 [NCBI36]
Chr16:16q12.1		 uncertain significance
GRCh38/hg38 16q12.1-12.2(chr16:51749870-53547882)x1 copy number loss See cases [RCV000137794] Chr16:51749870..53547882 [GRCh38]
Chr16:51783781..53581794 [GRCh37]
Chr16:50341282..52139295 [NCBI36]
Chr16:16q12.1-12.2		 uncertain significance
GRCh38/hg38 16q12.1-12.2(chr16:49570553-53467065)x1 copy number loss See cases [RCV000137722] Chr16:49570553..53467065 [GRCh38]
Chr16:49604464..53500977 [GRCh37]
Chr16:48161965..52058478 [NCBI36]
Chr16:16q12.1-12.2		 pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1 copy number loss Breast ductal adenocarcinoma [RCV000207292] Chr16:48543083..53879916 [GRCh38]
Chr16:48576994..53913828 [GRCh37]
Chr16:16q12.1-12.2		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q12.1-12.2(chr16:52464934-52676323) copy number gain Abnormal esophagus morphology [RCV000416626] Chr16:52464934..52676323 [GRCh37]
Chr16:16q12.1-12.2		 uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3 copy number gain See cases [RCV000511791] Chr16:34197492..64509054 [GRCh37]
Chr16:16p11.2-q21		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
NM_001080430.4(TOX3):c.1676C>T (p.Ser559Leu) single nucleotide variant Inborn genetic diseases [RCV003284584] Chr16:52439280 [GRCh38]
Chr16:52473192 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001080430.4(TOX3):c.443A>G (p.Gln148Arg) single nucleotide variant Inborn genetic diseases [RCV003285071] Chr16:52450512 [GRCh38]
Chr16:52484424 [GRCh37]
Chr16:16q12.1		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001080430.4(TOX3):c.1624T>A (p.Ser542Thr) single nucleotide variant Inborn genetic diseases [RCV003244295] Chr16:52439332 [GRCh38]
Chr16:52473244 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001080430.4(TOX3):c.1526A>T (p.Gln509Leu) single nucleotide variant Inborn genetic diseases [RCV003251882] Chr16:52439430 [GRCh38]
Chr16:52473342 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001080430.4(TOX3):c.1537C>T (p.Arg513Cys) single nucleotide variant not provided [RCV000974585] Chr16:52439419 [GRCh38]
Chr16:52473331 [GRCh37]
Chr16:16q12.1		 benign
NM_001080430.4(TOX3):c.1149C>T (p.Ile383=) single nucleotide variant not provided [RCV000957414] Chr16:52439807 [GRCh38]
Chr16:52473719 [GRCh37]
Chr16:16q12.1		 benign
NM_001080430.4(TOX3):c.550G>A (p.Ala184Thr) single nucleotide variant not provided [RCV000890211] Chr16:52450405 [GRCh38]
Chr16:52484317 [GRCh37]
Chr16:16q12.1		 benign
Single allele duplication not provided [RCV001542388] Chr16:46385317..61223349 [GRCh38]
Chr16:16q11.2-21		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NM_001080430.4(TOX3):c.43A>G (p.Ser15Gly) single nucleotide variant Inborn genetic diseases [RCV003255848] Chr16:52546681 [GRCh38]
Chr16:52580593 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001080430.4(TOX3):c.1217A>G (p.Asn406Ser) single nucleotide variant Inborn genetic diseases [RCV003255127] Chr16:52439739 [GRCh38]
Chr16:52473651 [GRCh37]
Chr16:16q12.1		 uncertain significance
GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3 copy number gain not provided [RCV002472562] Chr16:46503573..62203182 [GRCh37]
Chr16:16q11.2-21		 pathogenic
NM_001080430.4(TOX3):c.1058C>T (p.Thr353Ile) single nucleotide variant Inborn genetic diseases [RCV002901761] Chr16:52439898 [GRCh38]
Chr16:52473810 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001080430.4(TOX3):c.697G>C (p.Ala233Pro) single nucleotide variant Inborn genetic diseases [RCV002773663] Chr16:52446203 [GRCh38]
Chr16:52480115 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001080430.4(TOX3):c.1710A>T (p.Leu570Phe) single nucleotide variant Inborn genetic diseases [RCV002793528] Chr16:52439246 [GRCh38]
Chr16:52473158 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001080430.4(TOX3):c.919A>G (p.Lys307Glu) single nucleotide variant Inborn genetic diseases [RCV002950218] Chr16:52444344 [GRCh38]
Chr16:52478256 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001080430.4(TOX3):c.464G>A (p.Arg155Gln) single nucleotide variant Inborn genetic diseases [RCV002926318] Chr16:52450491 [GRCh38]
Chr16:52484403 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001080430.4(TOX3):c.229C>T (p.Pro77Ser) single nucleotide variant Inborn genetic diseases [RCV002696746] Chr16:52464113 [GRCh38]
Chr16:52498025 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001080430.4(TOX3):c.44G>T (p.Ser15Ile) single nucleotide variant Inborn genetic diseases [RCV002855065] Chr16:52546680 [GRCh38]
Chr16:52580592 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001080430.4(TOX3):c.1286C>T (p.Ser429Phe) single nucleotide variant Inborn genetic diseases [RCV002648400] Chr16:52439670 [GRCh38]
Chr16:52473582 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001080430.4(TOX3):c.1213G>A (p.Ala405Thr) single nucleotide variant Inborn genetic diseases [RCV003010822] Chr16:52439743 [GRCh38]
Chr16:52473655 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001080430.4(TOX3):c.836A>T (p.Asn279Ile) single nucleotide variant Inborn genetic diseases [RCV003255346] Chr16:52446064 [GRCh38]
Chr16:52479976 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001080430.4(TOX3):c.1622C>G (p.Thr541Arg) single nucleotide variant Inborn genetic diseases [RCV003197273] Chr16:52439334 [GRCh38]
Chr16:52473246 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001080430.4(TOX3):c.293A>G (p.Gln98Arg) single nucleotide variant Inborn genetic diseases [RCV003204630] Chr16:52464049 [GRCh38]
Chr16:52497961 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001080430.4(TOX3):c.1452C>A (p.His484Gln) single nucleotide variant Inborn genetic diseases [RCV003186494] Chr16:52439504 [GRCh38]
Chr16:52473416 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001080430.4(TOX3):c.1523A>T (p.Gln508Leu) single nucleotide variant Inborn genetic diseases [RCV003283266] Chr16:52439433 [GRCh38]
Chr16:52473345 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001080430.4(TOX3):c.1226C>T (p.Ser409Leu) single nucleotide variant Inborn genetic diseases [RCV003355107] Chr16:52439730 [GRCh38]
Chr16:52473642 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001080430.4(TOX3):c.17A>G (p.Tyr6Cys) single nucleotide variant Inborn genetic diseases [RCV003361832] Chr16:52546707 [GRCh38]
Chr16:52580619 [GRCh37]
Chr16:16q12.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1368
Count of miRNA genes:669
Interacting mature miRNAs:742
Transcripts:ENST00000219746, ENST00000407228, ENST00000563091, ENST00000566696, ENST00000568436
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.

Markers in Region
RH118810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371652,554,951 - 52,555,272UniSTSGRCh37
Build 361651,112,452 - 51,112,773RGDNCBI36
Celera1637,070,422 - 37,070,743RGD
Cytogenetic Map16q12.1UniSTS
HuRef1638,442,866 - 38,443,187UniSTS
TNG Radiation Hybrid Map1621388.0UniSTS
D16S2712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371652,578,851 - 52,579,149UniSTSGRCh37
Build 361651,136,352 - 51,136,650RGDNCBI36
Celera1637,094,304 - 37,094,602RGD
Cytogenetic Map16q12.1UniSTS
HuRef1638,467,060 - 38,467,358UniSTS
SHGC-148286  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371652,554,684 - 52,554,973UniSTSGRCh37
Build 361651,112,185 - 51,112,474RGDNCBI36
Celera1637,070,155 - 37,070,444RGD
Cytogenetic Map16q12.1UniSTS
HuRef1638,442,599 - 38,442,888UniSTS
TNG Radiation Hybrid Map1621391.0UniSTS
SHGC-154410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371652,578,133 - 52,578,475UniSTSGRCh37
Build 361651,135,634 - 51,135,976RGDNCBI36
Celera1637,093,586 - 37,093,928RGD
Cytogenetic Map16q12.1UniSTS
HuRef1638,466,342 - 38,466,684UniSTS
TNG Radiation Hybrid Map1621407.0UniSTS
D16S470E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371652,554,227 - 52,554,306UniSTSGRCh37
Build 361651,111,728 - 51,111,807RGDNCBI36
Celera1637,069,698 - 37,069,777RGD
Cytogenetic Map16q12.1UniSTS
HuRef1638,442,142 - 38,442,221UniSTS
D16S783  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371652,576,086 - 52,576,416UniSTSGRCh37
Build 361651,133,587 - 51,133,917RGDNCBI36
Celera1637,091,539 - 37,091,869RGD
Cytogenetic Map16q12.1UniSTS
HuRef1638,464,295 - 38,464,625UniSTS
Whitehead-YAC Contig Map16 UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 469 47 154 11 43 172 17 97 113 50 89 113 5
Low 859 9 792 449 213 401 1384 85 2520 234 978 463 49 1 332 684 1 1
Below cutoff 770 1172 589 14 453 13 2016 1204 1054 35 319 698 4 800 1397

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001080430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI733227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE501808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U80736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000219746   ⟹   ENSP00000219746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1652,436,417 - 52,547,143 (-)Ensembl
RefSeq Acc Id: ENST00000407228   ⟹   ENSP00000385705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1652,438,005 - 52,547,802 (-)Ensembl
RefSeq Acc Id: ENST00000563091   ⟹   ENSP00000457401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1652,450,348 - 52,547,419 (-)Ensembl
RefSeq Acc Id: ENST00000566696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1652,438,006 - 52,445,726 (-)Ensembl
RefSeq Acc Id: ENST00000568436   ⟹   ENSP00000463843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1652,464,018 - 52,546,840 (-)Ensembl
RefSeq Acc Id: NM_001080430   ⟹   NP_001073899
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381652,436,417 - 52,547,143 (-)NCBI
GRCh371652,471,682 - 52,581,714 (-)NCBI
Build 361651,029,418 - 51,138,307 (-)NCBI Archive
HuRef1638,359,856 - 38,469,498 (-)ENTREZGENE
CHM1_11653,877,850 - 53,988,260 (-)NCBI
T2T-CHM13v2.01658,234,309 - 58,345,025 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001146188   ⟹   NP_001139660
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381652,436,416 - 52,547,802 (-)NCBI
GRCh371652,471,682 - 52,581,714 (-)NCBI
HuRef1638,359,856 - 38,469,498 (-)ENTREZGENE
CHM1_11653,877,850 - 53,989,145 (-)NCBI
T2T-CHM13v2.01658,234,308 - 58,345,684 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005255892   ⟹   XP_005255949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381652,436,416 - 52,547,143 (-)NCBI
GRCh371652,471,682 - 52,581,714 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523002   ⟹   XP_011521304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381652,436,416 - 52,474,493 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047433909   ⟹   XP_047289865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381652,436,416 - 52,547,143 (-)NCBI
RefSeq Acc Id: XM_054380038   ⟹   XP_054236013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01658,234,308 - 58,345,025 (-)NCBI
RefSeq Acc Id: XM_054380039   ⟹   XP_054236014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01658,234,308 - 58,345,025 (-)NCBI
RefSeq Acc Id: XM_054380040   ⟹   XP_054236015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01658,234,308 - 58,272,378 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001139660   ⟸   NM_001146188
- Peptide Label: isoform 2
- UniProtKB: O15405 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001073899   ⟸   NM_001080430
- Peptide Label: isoform 1
- UniProtKB: B4DRD0 (UniProtKB/Swiss-Prot),   B5MCW4 (UniProtKB/Swiss-Prot),   O15405 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005255949   ⟸   XM_005255892
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011521304   ⟸   XM_011523002
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000219746   ⟸   ENST00000219746
RefSeq Acc Id: ENSP00000457401   ⟸   ENST00000563091
RefSeq Acc Id: ENSP00000385705   ⟸   ENST00000407228
RefSeq Acc Id: ENSP00000463843   ⟸   ENST00000568436
RefSeq Acc Id: XP_047289865   ⟸   XM_047433909
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054236013   ⟸   XM_054380038
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054236014   ⟸   XM_054380039
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054236015   ⟸   XM_054380040
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15405-F1-model_v2 AlphaFold O15405 1-576 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11972 AgrOrtholog
COSMIC TOX3 COSMIC
Ensembl Genes ENSG00000103460 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000219746 ENTREZGENE
  ENST00000219746.14 UniProtKB/Swiss-Prot
  ENST00000407228 ENTREZGENE
  ENST00000407228.7 UniProtKB/Swiss-Prot
  ENST00000563091.1 UniProtKB/TrEMBL
  ENST00000568436.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.30.10 UniProtKB/Swiss-Prot
GTEx ENSG00000103460 GTEx
HGNC ID HGNC:11972 ENTREZGENE
Human Proteome Map TOX3 Human Proteome Map
InterPro HMG_box_dom UniProtKB/Swiss-Prot
  HMG_box_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:27324 UniProtKB/Swiss-Prot
NCBI Gene 27324 ENTREZGENE
OMIM 611416 OMIM
PANTHER AGAP000281-PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TOX HIGH MOBILITY GROUP BOX FAMILY MEMBER 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HMG_box UniProtKB/Swiss-Prot
PharmGKB PA162406752 PharmGKB
PRINTS HIGHMOBLTY12 UniProtKB/Swiss-Prot
PROSITE HMG_BOX_2 UniProtKB/Swiss-Prot
SMART HMG UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47095 UniProtKB/Swiss-Prot
UniProt B4DRD0 ENTREZGENE
  B5MCW4 ENTREZGENE
  H3BTZ9_HUMAN UniProtKB/TrEMBL
  J3QQQ6_HUMAN UniProtKB/TrEMBL
  O15405 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DRD0 UniProtKB/Swiss-Prot
  B5MCW4 UniProtKB/Swiss-Prot