SQLE (squalene epoxidase) - Rat Genome Database
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Gene: SQLE (squalene epoxidase) Homo sapiens
Analyze
Symbol: SQLE
Name: squalene epoxidase
RGD ID: 736675
HGNC Page HGNC
Description: Exhibits FAD binding activity and squalene monooxygenase activity. Involved in lipid droplet formation; regulation of cell population proliferation; and sterol biosynthetic process. Localizes to integral component of membrane and intracellular membrane-bounded organelle.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ30795; SE; squalene monooxygenase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8124,998,497 - 125,022,283 (+)EnsemblGRCh38hg38GRCh38
GRCh388124,998,505 - 125,022,283 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378126,010,747 - 126,034,525 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368126,079,901 - 126,103,707 (+)NCBINCBI36hg18NCBI36
Build 348126,080,612 - 126,103,706NCBI
Celera8122,199,057 - 122,223,195 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8121,334,165 - 121,358,312 (+)NCBIHuRef
CHM1_18126,050,996 - 126,075,149 (+)NCBICHM1_1
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
(-)-epigallocatechin 3-gallate  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,2-dimethylhydrazine  (ISO)
1-(3-(trifluoromethyl)phenyl)piperazine  (ISO)
1-benzylpiperazine  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-diaminotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
2-methylcholine  (EXP)
22-Hydroxycholesterol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-bromo-2'-deoxyuridine  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acrylamide  (ISO)
Actein  (ISO)
aflatoxin B1  (EXP,ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
antimony(0)  (EXP)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
avobenzone  (EXP)
Azaspiracid  (EXP)
azathioprine  (EXP)
benzalkonium chloride  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
beta-naphthoflavone  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
cadmium sulfate  (EXP)
caffeine  (EXP,ISO)
calcitriol  (EXP)
captan  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP)
chloropicrin  (EXP)
chlorpyrifos  (EXP)
cholesterol  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP,ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
difenoconazole  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
fenofibrate  (ISO)
fingolimod hydrochloride  (EXP)
flavonoids  (ISO)
fluoranthene  (ISO)
fluoxetine  (ISO)
flusilazole  (ISO)
folic acid  (ISO)
folpet  (ISO)
formaldehyde  (EXP)
furan  (ISO)
gamma-hexachlorocyclohexane  (ISO)
genistein  (EXP,ISO)
glafenine  (ISO)
hexaconazole  (ISO)
hydrogen peroxide  (EXP,ISO)
indometacin  (EXP)
isoflavones  (EXP)
isoprenaline  (ISO)
ketamine  (ISO)
ketoconazole  (ISO)
lead(II) chloride  (EXP)
leflunomide  (EXP,ISO)
linalool  (EXP)
mercury dibromide  (EXP)
methyl methanesulfonate  (EXP)
methylparaben  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (EXP)
nickel dichloride  (EXP)
okadaic acid  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
phenylpropanolamine  (EXP)
phytosterols  (ISO)
picrotoxin  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
progesterone  (ISO)
propanil  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
quercetin 3-O-beta-D-glucofuranoside  (EXP)
quercetin 3-O-beta-D-glucopyranoside  (EXP)
resveratrol  (EXP)
ritodrine  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
sevoflurane  (ISO)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tebuconazole  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP,ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thimerosal  (EXP)
thioacetamide  (EXP,ISO)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (ISO)
topiramate  (ISO)
triadimefon  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
troglitazone  (EXP)
tunicamycin  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
Yessotoxin  (EXP)
zearalenone  (EXP)
zoledronic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8125298   PMID:8626488   PMID:9286711   PMID:10666321   PMID:11076863   PMID:11230166   PMID:12083769   PMID:12477932   PMID:14702039   PMID:15489336   PMID:16381901   PMID:16806233  
PMID:17316888   PMID:18660489   PMID:18728668   PMID:19913121   PMID:20628086   PMID:21873635   PMID:21988832   PMID:24449766   PMID:24840124   PMID:24931836   PMID:25787749   PMID:26186194  
PMID:26434806   PMID:26777065   PMID:28069586   PMID:28342963   PMID:28514442   PMID:28595267   PMID:28972164   PMID:29180619   PMID:29596888   PMID:29765154   PMID:30626872   PMID:30734525  
PMID:30792392   PMID:30940729   PMID:31356817   PMID:31471528   PMID:32170014   PMID:32296183   PMID:32694731  


Genomics

Comparative Map Data
SQLE
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8124,998,497 - 125,022,283 (+)EnsemblGRCh38hg38GRCh38
GRCh388124,998,505 - 125,022,283 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378126,010,747 - 126,034,525 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368126,079,901 - 126,103,707 (+)NCBINCBI36hg18NCBI36
Build 348126,080,612 - 126,103,706NCBI
Celera8122,199,057 - 122,223,195 (+)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8121,334,165 - 121,358,312 (+)NCBIHuRef
CHM1_18126,050,996 - 126,075,149 (+)NCBICHM1_1
Sqle
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391559,186,941 - 59,203,042 (+)NCBIGRCm39mm39
GRCm39 Ensembl1559,186,926 - 59,203,041 (+)Ensembl
GRCm381559,315,092 - 59,331,193 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1559,315,077 - 59,331,192 (+)EnsemblGRCm38mm10GRCm38
MGSCv371559,146,647 - 59,162,748 (+)NCBIGRCm37mm9NCBIm37
MGSCv361559,144,773 - 59,160,874 (+)NCBImm8
Celera1560,845,733 - 60,861,834 (+)NCBICelera
Cytogenetic Map15D1NCBI
Sqle
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2790,867,973 - 90,883,623 (+)NCBI
Rnor_6.0 Ensembl799,609,191 - 99,624,732 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0799,609,929 - 99,624,803 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07100,197,094 - 100,211,968 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4796,096,897 - 96,111,772 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1796,130,995 - 96,146,001 (+)NCBI
Celera787,631,412 - 87,646,286 (+)NCBICelera
Cytogenetic Map7q33NCBI
Sqle
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955461122,528 - 143,064 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955461121,886 - 143,389 (+)NCBIChiLan1.0ChiLan1.0
SQLE
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18124,435,668 - 124,459,441 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8124,435,668 - 124,459,441 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08121,684,269 - 121,708,131 (+)NCBIMhudiblu_PPA_v0panPan3
SQLE
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1322,993,862 - 23,017,978 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11322,994,010 - 23,018,134 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Sqle
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493647022,726,793 - 22,752,429 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SQLE
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl414,669,791 - 14,700,126 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1414,669,789 - 14,700,152 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2415,248,863 - 15,279,281 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SQLE
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18119,586,639 - 119,610,980 (+)NCBI
ChlSab1.1 Ensembl8119,586,659 - 119,611,142 (+)Ensembl
Sqle
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473530,225,307 - 30,246,202 (-)NCBI

Position Markers
D8S1682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,034,290 - 126,034,461UniSTSGRCh37
Build 368126,103,472 - 126,103,643RGDNCBI36
Celera8122,222,960 - 122,223,131RGD
Cytogenetic Map8q24.1UniSTS
HuRef8121,358,077 - 121,358,248UniSTS
A004A38  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,015,441 - 126,015,598UniSTSGRCh37
Build 368126,084,622 - 126,084,779RGDNCBI36
Celera8122,203,768 - 122,203,925RGD
Cytogenetic Map8q24.1UniSTS
HuRef8121,338,890 - 121,339,047UniSTS
GeneMap99-GB4 RH Map8478.86UniSTS
NCBI RH Map81413.3UniSTS
RH15879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,034,264 - 126,034,445UniSTSGRCh37
Build 368126,103,446 - 126,103,627RGDNCBI36
Celera8122,222,934 - 122,223,115RGD
Cytogenetic Map8q24.1UniSTS
HuRef8121,358,051 - 121,358,232UniSTS
GeneMap99-GB4 RH Map8474.7UniSTS
NCBI RH Map81473.8UniSTS
D8S1067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,011,929 - 126,012,156UniSTSGRCh37
Build 368126,081,110 - 126,081,337RGDNCBI36
Celera8122,200,266 - 122,200,493RGD
Cytogenetic Map8q24.1UniSTS
HuRef8121,335,374 - 121,335,601UniSTS
Whitehead-YAC Contig Map8 UniSTS
RH48389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,031,837 - 126,032,023UniSTSGRCh37
Build 368126,101,019 - 126,101,205RGDNCBI36
Celera8122,220,507 - 122,220,693RGD
Cytogenetic Map8q24.1UniSTS
HuRef8121,355,625 - 121,355,811UniSTS
GeneMap99-GB4 RH Map8478.86UniSTS
RH48094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378126,021,234 - 126,021,483UniSTSGRCh37
Build 368126,090,416 - 126,090,665RGDNCBI36
Celera8122,209,561 - 122,209,810RGD
Cytogenetic Map8q24.1UniSTS
HuRef8121,344,667 - 121,344,916UniSTS
GeneMap99-GB4 RH Map8474.57UniSTS
NCBI RH Map81459.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:603
Count of miRNA genes:385
Interacting mature miRNAs:423
Transcripts:ENST00000265896, ENST00000518604, ENST00000518931, ENST00000520493, ENST00000521232, ENST00000523430
Prediction methods:Microtar, Miranda, Rnahybrid
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.


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 adipose tissue appendage entire extraembryonic component
High 1 1 1
Medium 827 803 1191 430 976 310 2843 162 2765 230 1224 1242 134 460 1707 4
Low 1602 2120 532 192 925 154 1228 1723 942 187 223 366 37 744 797
Below cutoff 3 61 1 47 285 307 11 2 3 1 2 284

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_003129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF098865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG772453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D78129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D78130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ695197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265896   ⟹   ENSP00000265896
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,998,505 - 125,022,283 (+)Ensembl
RefSeq Acc Id: ENST00000518604
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,017,942 - 125,019,113 (+)Ensembl
RefSeq Acc Id: ENST00000518931   ⟹   ENSP00000429916
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,009,280 - 125,020,937 (+)Ensembl
RefSeq Acc Id: ENST00000520493
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,010,945 - 125,018,107 (+)Ensembl
RefSeq Acc Id: ENST00000521232   ⟹   ENSP00000428239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,998,544 - 125,005,707 (+)Ensembl
RefSeq Acc Id: ENST00000523430   ⟹   ENSP00000430331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8124,998,497 - 125,022,281 (+)Ensembl
RefSeq Acc Id: NM_003129   ⟹   NP_003120
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388124,998,505 - 125,022,283 (+)NCBI
GRCh378126,010,720 - 126,034,525 (+)ENTREZGENE
Build 368126,079,901 - 126,103,707 (+)NCBI Archive
HuRef8121,334,165 - 121,358,312 (+)ENTREZGENE
CHM1_18126,050,996 - 126,075,149 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517246   ⟹   XP_011515548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388124,999,757 - 125,022,283 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003120   ⟸   NM_003129
- UniProtKB: Q14534 (UniProtKB/Swiss-Prot),   Q5HYI4 (UniProtKB/TrEMBL),   Q9UNR6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515548   ⟸   XM_011517246
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000429916   ⟸   ENST00000518931
RefSeq Acc Id: ENSP00000428239   ⟸   ENST00000521232
RefSeq Acc Id: ENSP00000430331   ⟸   ENST00000523430
RefSeq Acc Id: ENSP00000265896   ⟸   ENST00000265896
Protein Domains
FAD_binding_3   SE

Promoters
RGD ID:7214157
Promoter ID:EPDNEW_H12825
Type:initiation region
Name:SQLE_1
Description:squalene epoxidase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388124,998,505 - 124,998,565EPDNEW
RGD ID:6807047
Promoter ID:HG_KWN:62066
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000265896,   NM_003129,   UC003YRS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368126,079,456 - 126,081,082 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.13(chr8:124125245-125337217)x3 copy number gain See cases [RCV000050762] Chr8:124125245..125337217 [GRCh38]
Chr8:125137486..126349459 [GRCh37]
Chr8:125206667..126418641 [NCBI36]
Chr8:8q24.13
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 copy number gain See cases [RCV000133620] Chr8:122454392..128513076 [GRCh38]
Chr8:123466631..129525322 [GRCh37]
Chr8:123535812..129594504 [NCBI36]
Chr8:8q24.13-24.21
pathogenic
GRCh38/hg38 8q24.13(chr8:124895891-125399814)x3 copy number gain See cases [RCV000134345] Chr8:124895891..125399814 [GRCh38]
Chr8:125908133..126412056 [GRCh37]
Chr8:125977314..126481238 [NCBI36]
Chr8:8q24.13
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.13-24.21(chr8:125539280-128129372)x1 copy number loss See cases [RCV000510509] Chr8:125539280..128129372 [GRCh37]
Chr8:8q24.13-24.21
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21
pathogenic
GRCh37/hg19 8q24.13(chr8:125584474-126043912)x1 copy number loss not provided [RCV001006142] Chr8:125584474..126043912 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.13(chr8:124878368-126737708)x3 copy number gain not provided [RCV001006141] Chr8:124878368..126737708 [GRCh37]
Chr8:8q24.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11279 AgrOrtholog
COSMIC SQLE COSMIC
Ensembl Genes ENSG00000104549 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000265896 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428239 UniProtKB/TrEMBL
  ENSP00000429916 UniProtKB/TrEMBL
  ENSP00000430331 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265896 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000518931 UniProtKB/TrEMBL
  ENST00000521232 UniProtKB/TrEMBL
  ENST00000523430 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 3.50.50.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104549 GTEx
HGNC ID HGNC:11279 ENTREZGENE
Human Proteome Map SQLE Human Proteome Map
InterPro FAD/NAD-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  mOase_FAD-bd UniProtKB/TrEMBL
  Squalene_epoxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Squalene_monox UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6713 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6713 ENTREZGENE
OMIM 602019 OMIM
PANTHER PTHR10835 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FAD_binding_3 UniProtKB/TrEMBL
  PF08491 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36108 PharmGKB
Superfamily-SCOP SSF51905 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5RJH9_HUMAN UniProtKB/TrEMBL
  E7EVQ6_HUMAN UniProtKB/TrEMBL
  ERG1_HUMAN UniProtKB/Swiss-Prot
  H0YBN7_HUMAN UniProtKB/TrEMBL
  Q14534 ENTREZGENE
  Q5HYI4 ENTREZGENE, UniProtKB/TrEMBL
  Q9UNR6 ENTREZGENE
UniProt Secondary Q9UEK6 UniProtKB/Swiss-Prot
  Q9UNR6 UniProtKB/Swiss-Prot