SQLE (squalene epoxidase) - Rat Genome Database

Name: SQLE
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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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 ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Sqle (squalene epoxidase)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Sqle (squalene epoxidase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Sqle (squalene epoxidase)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	SQLE (squalene epoxidase)	NCBI	Ortholog
Canis lupus familiaris (dog):	SQLE (squalene epoxidase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Sqle (squalene epoxidase)	NCBI	Ortholog
Sus scrofa (pig):	SQLE (squalene epoxidase)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (African green monkey):	SQLE (squalene epoxidase)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Sqle (squalene epoxidase)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Sqle (squalene epoxidase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|TreeFam)
Mus musculus (house mouse):	Sqle (squalene epoxidase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|TreeFam)
Danio rerio (zebrafish):	sqlea (squalene epoxidase a)	Alliance	DIOPT (PhylomeDB\|TreeFam\|ZFIN)
Danio rerio (zebrafish):	sqleb (squalene epoxidase b)	Alliance	DIOPT (TreeFam\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	ERG1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|TreeFam)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	8	124,998,497 - 125,022,283 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	8	124,998,505 - 125,022,283 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	8	126,010,747 - 126,034,525 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	126,079,901 - 126,103,707 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	8	126,080,612 - 126,103,706	NCBI
Celera	8	122,199,057 - 122,223,195 (+)	NCBI
Cytogenetic Map	8	q24.13	NCBI
HuRef	8	121,334,165 - 121,358,312 (+)	NCBI		HuRef
CHM1_1	8	126,050,996 - 126,075,149 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

cholelithiasis (ISO)

Experimental Liver Neoplasms (EXP)

Hypercholesterolemia (ISO)

obesity (ISO)

trichorhinophalangeal syndrome type I (IAGP)

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

Biological Process

cellular aromatic compound metabolic process (IEA,ISO)

cholesterol biosynthetic process (TAS)

cholesterol metabolic process (IBA,ISO)

lipid droplet formation (IMP)

regulation of cell population proliferation (IMP)

regulation of lipid metabolic process (TAS)

response to organic substance (IEA,ISO)

sterol biosynthetic process (IBA,IDA,IEA,NAS)

Cellular Component

endoplasmic reticulum (IBA)

endoplasmic reticulum membrane (IEA,TAS)

integral component of membrane (IDA,IEA)

intracellular membrane-bounded organelle (IDA,ISO)

Molecular Function

FAD binding (IDA,IEA)

flavin adenine dinucleotide binding (IEA)

protein binding (IPI)

squalene monooxygenase activity (IBA,IDA,IEA,ISO,NAS)

Molecular Pathway Annotations Click to see Annotation Detail View

alendronate pharmacodynamics pathway (EXP)

cholesterol biosynthetic pathway (EXP,TAS)

cholesterol ester storage disease pathway (EXP)

congenital hemidysplasia with ichthyosiform erythroderma and limb defects pathway (EXP)

desmosterolosis pathway (EXP)

hypercholesterolemia pathway (EXP)

ibandronate pharmacodynamics pathway (EXP)

mevalonic aciduria pathway (EXP)

nitrogenous bisphosphonate pharmacodynamics pathway (EXP)

pamidronate pharmacodynamics pathway (EXP)

risedronate pharmacodynamics pathway (EXP)

Smith-Lemli-Opitz Syndrome pathway (EXP)

statin pharmacodynamics pathway (EXP)

Wolman disease pathway (EXP)

X-linked dominant chondrodysplasia punctata 2 pathway (EXP)

zoledronate pharmacodynamics pathway (EXP)

References

References - curated


1.	Clarke GA, etal., Gut. 2004 Jan;53(1):136-42.
2.	GOA_HUMAN data from the GO Consortium
3.	KEGG
4.	Kim S, etal., Gene. 2004 Sep 29;340(1):99-109.
5.	Marmugi A, etal., Toxicology. 2014 Nov 5;325:133-43. doi: 10.1016/j.tox.2014.08.006. Epub 2014 Aug 26.
6.	Pipeline to import SMPDB annotations from SMPDB into RGD
7.	RGD automated import pipeline for gene-chemical interactions
8.	Waterham HR FEBS Lett. 2006 Oct 9;580(23):5442-9. Epub 2006 Jul 20.

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	8	124,998,497 - 125,022,283 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	8	124,998,505 - 125,022,283 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	8	126,010,747 - 126,034,525 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	126,079,901 - 126,103,707 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	8	126,080,612 - 126,103,706	NCBI
Celera	8	122,199,057 - 122,223,195 (+)	NCBI
Cytogenetic Map	8	q24.13	NCBI
HuRef	8	121,334,165 - 121,358,312 (+)	NCBI		HuRef
CHM1_1	8	126,050,996 - 126,075,149 (+)	NCBI		CHM1_1

Sqle
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	59,186,941 - 59,203,042 (+)	NCBI	GRCm39		mm39
GRCm39 Ensembl	15	59,186,926 - 59,203,041 (+)	Ensembl
GRCm38	15	59,315,092 - 59,331,193 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	59,315,077 - 59,331,192 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	59,146,647 - 59,162,748 (+)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	15	59,144,773 - 59,160,874 (+)	NCBI			mm8
Celera	15	60,845,733 - 60,861,834 (+)	NCBI		Celera
Cytogenetic Map	15	D1	NCBI

Sqle
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	7	90,867,973 - 90,883,623 (+)	NCBI
Rnor_6.0 Ensembl	7	99,609,191 - 99,624,732 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	7	99,609,929 - 99,624,803 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	7	100,197,094 - 100,211,968 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	96,096,897 - 96,111,772 (+)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	7	96,130,995 - 96,146,001 (+)	NCBI
Celera	7	87,631,412 - 87,646,286 (+)	NCBI		Celera
Cytogenetic Map	7	q33	NCBI

Sqle
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955461	122,528 - 143,064 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955461	121,886 - 143,389 (+)	NCBI	ChiLan1.0	ChiLan1.0

SQLE
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	8	124,435,668 - 124,459,441 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	8	124,435,668 - 124,459,441 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	8	121,684,269 - 121,708,131 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

SQLE
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	13	22,993,862 - 23,017,978 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	13	22,994,010 - 23,018,134 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

Sqle
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
SpeTri2.0	NW_004936470	22,726,793 - 22,752,429 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SQLE
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	4	14,669,791 - 14,700,126 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	4	14,669,789 - 14,700,152 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	4	15,248,863 - 15,279,281 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SQLE
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	8	119,586,639 - 119,610,980 (+)	NCBI
ChlSab1.1 Ensembl	8	119,586,659 - 119,611,142 (+)	Ensembl

Sqle
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624735	30,225,307 - 30,246,202 (-)	NCBI

Position Markers

D8S1682

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	126,034,290 - 126,034,461	UniSTS	GRCh37
Build 36	8	126,103,472 - 126,103,643	RGD	NCBI36
Celera	8	122,222,960 - 122,223,131	RGD
Cytogenetic Map	8	q24.1	UniSTS
HuRef	8	121,358,077 - 121,358,248	UniSTS

A004A38

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	126,015,441 - 126,015,598	UniSTS	GRCh37
Build 36	8	126,084,622 - 126,084,779	RGD	NCBI36
Celera	8	122,203,768 - 122,203,925	RGD
Cytogenetic Map	8	q24.1	UniSTS
HuRef	8	121,338,890 - 121,339,047	UniSTS
GeneMap99-GB4 RH Map	8	478.86	UniSTS
NCBI RH Map	8	1413.3	UniSTS

RH15879

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	126,034,264 - 126,034,445	UniSTS	GRCh37
Build 36	8	126,103,446 - 126,103,627	RGD	NCBI36
Celera	8	122,222,934 - 122,223,115	RGD
Cytogenetic Map	8	q24.1	UniSTS
HuRef	8	121,358,051 - 121,358,232	UniSTS
GeneMap99-GB4 RH Map	8	474.7	UniSTS
NCBI RH Map	8	1473.8	UniSTS

D8S1067

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	126,011,929 - 126,012,156	UniSTS	GRCh37
Build 36	8	126,081,110 - 126,081,337	RGD	NCBI36
Celera	8	122,200,266 - 122,200,493	RGD
Cytogenetic Map	8	q24.1	UniSTS
HuRef	8	121,335,374 - 121,335,601	UniSTS
Whitehead-YAC Contig Map	8		UniSTS

RH48389

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	126,031,837 - 126,032,023	UniSTS	GRCh37
Build 36	8	126,101,019 - 126,101,205	RGD	NCBI36
Celera	8	122,220,507 - 122,220,693	RGD
Cytogenetic Map	8	q24.1	UniSTS
HuRef	8	121,355,625 - 121,355,811	UniSTS
GeneMap99-GB4 RH Map	8	478.86	UniSTS

RH48094

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	126,021,234 - 126,021,483	UniSTS	GRCh37
Build 36	8	126,090,416 - 126,090,665	RGD	NCBI36
Celera	8	122,209,561 - 122,209,810	RGD
Cytogenetic Map	8	q24.1	UniSTS
HuRef	8	121,344,667 - 121,344,916	UniSTS
GeneMap99-GB4 RH Map	8	474.57	UniSTS
NCBI RH Map	8	1459.3	UniSTS

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

Medium

827

803

1191

430

976

310

2843

162

2765

230

1224

1242

134

460

1707

Low

1602

2120

532

192

925

154

1228

1723

942

187

223

366

744

797

Below cutoff

285

307

284

View RNA-SEQ Expression Data

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 Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	124,998,505 - 125,022,283 (+)	Ensembl

RefSeq Acc Id:

ENST00000518604

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	125,017,942 - 125,019,113 (+)	Ensembl

RefSeq Acc Id:

ENST00000518931 ⟹ ENSP00000429916

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	125,009,280 - 125,020,937 (+)	Ensembl

RefSeq Acc Id:

ENST00000520493

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	125,010,945 - 125,018,107 (+)	Ensembl

RefSeq Acc Id:

ENST00000521232 ⟹ ENSP00000428239

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	124,998,544 - 125,005,707 (+)	Ensembl

RefSeq Acc Id:

ENST00000523430 ⟹ ENSP00000430331

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	8	124,998,497 - 125,022,281 (+)	Ensembl

RefSeq Acc Id:

NM_003129 ⟹ NP_003120

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	124,998,505 - 125,022,283 (+)	NCBI
GRCh37	8	126,010,720 - 126,034,525 (+)	ENTREZGENE
Build 36	8	126,079,901 - 126,103,707 (+)	NCBI Archive
HuRef	8	121,334,165 - 121,358,312 (+)	ENTREZGENE
CHM1_1	8	126,050,996 - 126,075,149 (+)	NCBI

Sequence:

show sequence

GTCTGGGCCGAGCCCGCCCAGCTGGCTGAGACGCGTGGAGCCTGGCGGCGAGTGGGGGCGTGCG
ACGGTTACTCTGGTTACTGGGGCCGCGCCGCGCTGGCGAGAGCCGCCGCCCGCGAGGGATGCTG
GTGAGGAAGCCGTCGGGAGCCGCCGCCGCCATCTGAGGGAGGTACCCTGGAAACCACCTTTTAT
CGGTGGGGAAGTGCAGTCGCGGTGGGCGGCTCTGGGGGCCAGCGAAACGGGAGGCCTCTAAATC
TTTAGGTTGGGGCTGCATTGCCCTGGAGCCGCACTCTTGAGTCCGAGGCCATCTTTTGTTGGAG
AAGGCGTCGGCGTTGGCGTTTTCCCGAGGTTGGGCTGTACAGTGTCTCCGTCCGCGGAAAAAGA
AGCCTCTGAACCCGCGCCGGCCCGCAGCCCCCGTGCCTTCCGGCCGCTGCTCGCCGTCGCCAGA
GGCTAGGCCACGTTTCCCCCAGTGCCGAGGTGTTTCTGTGACCCTCCCTCCACTCCCATTCCCT
TCTGAAAGGGCACCTGCTCTTGGTGAGAAAAGAAATTATAGCACGAAGAGCCAGTATCAGAAGA
GTATCCATCACCCGCAGCAACCGCTCAGGGAACACCATCAAAAAAGAAAAAAAGGGAATATCTG
GATTTCCTGGGCGAGGAGGAGCGAGTCTGCTCGGGAGCTGTTCCAGCAGGCGATTTTTAAATAC
TGCTTTCTACGCCCTATACAACTTGGCTTCACATACTTTTACACTAACTTTATATGATTTTTAA
AAACTGGTCTGATCGGACTTCTCGTCCTGGGACACTGTTTACTGGAGTCTGGCCGGCTCTCCGT
GCTCCTCTTGGTACCTCATTTTGGGGAGAACCTTAAACCCACTCGAGCAGATAATCTCCGCCTT
GACCGGTGCCACCAAAGAAGCCTTGGAACCATGTGGACTTTTCTGGGCATTGCCACTTTCACCT
ATTTTTATAAGAAGTTCGGGGACTTCATCACTTTGGCCAACAGGGAGGTCCTGTTGTGCGTGCT
GGTGTTCCTCTCGCTGGGCCTGGTGCTCTCCTACCGCTGTCGCCACCGAAACGGGGGTCTCCTC
GGGCGCCAGCAGAGCGGCTCCCAGTTCGCCCTCTTCTCGGATATTCTCTCAGGCCTGCCTTTCA
TTGGCTTCTTCTGGGCCAAATCCCCCCCTGAATCAGAAAATAAGGAGCAGCTCGAGGCCAGGAG
GCGCAGAAAAGGAACCAATATTTCAGAAACAAGCTTAATAGGAACAGCTGCCTGTACATCAACA
TCTTCTCAGAATGACCCAGAAGTTATCATCGTGGGAGCTGGCGTGCTTGGCTCTGCTTTGGCAG
CTGTGCTTTCCAGAGATGGAAGAAAGGTGACAGTCATTGAGAGAGACTTAAAAGAGCCTGACAG
AATAGTTGGAGAATTCCTGCAGCCGGGTGGTTATCATGTTCTCAAAGACCTTGGTCTTGGAGAT
ACAGTGGAAGGTCTTGATGCCCAGGTTGTAAATGGTTACATGATTCATGATCAGGAAAGCAAAT
CAGAGGTTCAGATTCCTTACCCTCTGTCAGAAAACAATCAAGTGCAGAGTGGAAGAGCTTTCCA
TCACGGAAGATTCATCATGAGTCTCCGGAAAGCAGCTATGGCAGAGCCCAATGCAAAGTTTATT
GAAGGTGTTGTGTTACAGTTATTAGAGGAAGATGATGTTGTGATGGGAGTTCAGTACAAGGATA
AAGAGACTGGAGATATCAAGGAACTCCATGCTCCACTGACTGTTGTTGCAGATGGGCTTTTCTC
CAAGTTCAGGAAAAGCCTGGTCTCCAATAAAGTTTCTGTATCATCTCATTTTGTTGGCTTTCTT
ATGAAGAATGCACCACAGTTTAAAGCAAATCATGCTGAACTTATTTTAGCTAACCCGAGTCCAG
TTCTCATCTACCAGATTTCATCCAGTGAAACTCGAGTACTTGTTGACATTAGAGGAGAAATGCC
AAGGAATTTAAGAGAATACATGGTTGAAAAAATTTACCCACAAATACCTGATCACCTGAAAGAA
CCATTCTTAGAAGCCACTGACAATTCTCATCTGAGGTCCATGCCAGCAAGCTTCCTTCCTCCTT
CATCAGTGAAGAAACGAGGTGTTCTTCTTTTGGGAGACGCATATAATATGAGGCATCCACTTAC
TGGTGGAGGAATGACTGTTGCTTTTAAAGATATAAAACTATGGAGAAAACTGCTAAAGGGTATC
CCTGACCTTTATGATGATGCAGCTATTTTCGAGGCCAAAAAATCATTTTACTGGGCAAGAAAAA
CATCTCATTCCTTTGTCGTGAATATCCTTGCTCAGGCTCTTTATGAATTATTTTCTGCCACAGA
TGATTCCCTGCATCAACTAAGAAAAGCCTGTTTTCTTTATTTCAAACTTGGTGGCGAATGTGTT
GCGGGTCCTGTTGGGCTGCTTTCTGTATTGTCTCCTAACCCTCTAGTTTTAATTGGACACTTCT
TTGCTGTTGCAATCTATGCCGTGTATTTTTGCTTTAAGTCAGAACCTTGGATTACAAAACCTCG
AGCCCTTCTCAGTAGTGGTGCTGTATTGTACAAAGCGTGTTCTGTAATATTTCCTCTAATTTAC
TCAGAAATGAAGTATATGGTTCATTAAGCTTAAAGGGGAACCATTTGTGAATGAATATTTGGAA
CTTACCAAGTCCTAAGAGACTTTTGGAAGAGGATATATATAGCATAGTACCATACCACTTATAA
AGTGGAAACTCTTGGACCAAGATTTGGATTAATTTGTTTTTGAAGTTTTTTGTATATAAATATG
TAAATACATGCTTTAATTTGCAATTTAAAATGAAGGGGTTAAATAAGTTAGACATTTAAAAGAA
ATGATTGTTACCATAAATTAGTGCTAATGCTGAGGAGAACTACAGTTTTTCTTTTGAATTTAGT
ATTTGAGATGAGTTGTTGGGACATGCAAATAAAATGAAGAATGAA

hide sequence

RefSeq Acc Id:

XM_011517246 ⟹ XP_011515548

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	124,999,757 - 125,022,283 (+)	NCBI

Sequence:

show sequence

AATATAAGTTTTATTTGAATTGCAAAAGGCGGCAGGTTAGATGCTTGTATACATTCTCATGTAT
TTTTTATTTTAAACTCTGCTGTGCCTTGGTTACATCTTTGACCTTCTTAAGAATGAGTGAAGAC
ATTTGTTTCATTTAGCATTGGTTGAGCCTCAGATGGAGGTTGGATATTTGATTATGAAAGATGG
AACGAAATGTTAGAATTTCATTTTGAAGGAGAAGAACAACCACTTTCCATGATGAAAAAGTTTT
TAAAAAGTTCTTGGGTAAGGATTGGATTTGTGCCTGAGGAAGAAAGAAACGTGCTGCGGCGCAG
AAAAGGAACCAATATTTCAGAAACAAGCTTAATAGGAACAGCTGCCTGTACATCAACATCTTCT
CAGAATGACCCAGAAGTTATCATCGTGGGAGCTGGCGTGCTTGGCTCTGCTTTGGCAGCTGTGC
TTTCCAGAGATGGAAGAAAGGTGACAGTCATTGAGAGAGACTTAAAAGAGCCTGACAGAATAGT
TGGAGAATTCCTGCAGCCGGGTGGTTATCATGTTCTCAAAGACCTTGGTCTTGGAGATACAGTG
GAAGGTCTTGATGCCCAGGTTGTAAATGGTTACATGATTCATGATCAGGAAAGCAAATCAGAGG
TTCAGATTCCTTACCCTCTGTCAGAAAACAATCAAGTGCAGAGTGGAAGAGCTTTCCATCACGG
AAGATTCATCATGAGTCTCCGGAAAGCAGCTATGGCAGAGCCCAATGCAAAGTTTATTGAAGGT
GTTGTGTTACAGTTATTAGAGGAAGATGATGTTGTGATGGGAGTTCAGTACAAGGATAAAGAGA
CTGGAGATATCAAGGAACTCCATGCTCCACTGACTGTTGTTGCAGATGGGCTTTTCTCCAAGTT
CAGGAAAAGCCTGGTCTCCAATAAAGTTTCTGTATCATCTCATTTTGTTGGCTTTCTTATGAAG
AATGCACCACAGTTTAAAGCAAATCATGCTGAACTTATTTTAGCTAACCCGAGTCCAGTTCTCA
TCTACCAGATTTCATCCAGTGAAACTCGAGTACTTGTTGACATTAGAGGAGAAATGCCAAGGAA
TTTAAGAGAATACATGGTTGAAAAAATTTACCCACAAATACCTGATCACCTGAAAGAACCATTC
TTAGAAGCCACTGACAATTCTCATCTGAGGTCCATGCCAGCAAGCTTCCTTCCTCCTTCATCAG
TGAAGAAACGAGGTGTTCTTCTTTTGGGAGACGCATATAATATGAGGCATCCACTTACTGGTGG
AGGAATGACTGTTGCTTTTAAAGATATAAAACTATGGAGAAAACTGCTAAAGGGTATCCCTGAC
CTTTATGATGATGCAGCTATTTTCGAGGCCAAAAAATCATTTTACTGGGCAAGAAAAACATCTC
ATTCCTTTGTCGTGAATATCCTTGCTCAGGCTCTTTATGAATTATTTTCTGCCACAGATGATTC
CCTGCATCAACTAAGAAAAGCCTGTTTTCTTTATTTCAAACTTGGTGGCGAATGTGTTGCGGGT
CCTGTTGGGCTGCTTTCTGTATTGTCTCCTAACCCTCTAGTTTTAATTGGACACTTCTTTGCTG
TTGCAATCTATGCCGTGTATTTTTGCTTTAAGTCAGAACCTTGGATTACAAAACCTCGAGCCCT
TCTCAGTAGTGGTGCTGTATTGTACAAAGCGTGTTCTGTAATATTTCCTCTAATTTACTCAGAA
ATGAAGTATATGGTTCATTAAGCTTAAAGGGGAACCATTTGTGAATGAATATTTGGAACTTACC
AAGTCCTAAGAGACTTTTGGAAGAGGATATATATAGCATAGTACCATACCACTTATAAAGTGGA
AACTCTTGGACCAAGATTTGGATTAATTTGTTTTTGAAGTTTTTTGTATATAAATATGTAAATA
CATGCTTTAATTTGCAATTTAAAATGAAGGGGTTAAATAAGTTAGACATTTAAAAGAAATGATT
GTTACCATAAATTAGTGCTAATGCTGAGGAGAACTACAGTTTTTCTTTTGAATTTAGTATTTGA
GATGAGTTGTTGGGACATGCAAATAAAATGAAGAATGAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_003120	(Get FASTA)	NCBI Sequence Viewer
	XP_011515548	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD10823	(Get FASTA)	NCBI Sequence Viewer
	AAH17033	(Get FASTA)	NCBI Sequence Viewer
	BAA11209	(Get FASTA)	NCBI Sequence Viewer
	BAA22372	(Get FASTA)	NCBI Sequence Viewer
	BAG36182	(Get FASTA)	NCBI Sequence Viewer
	BAG58282	(Get FASTA)	NCBI Sequence Viewer
	BAG63246	(Get FASTA)	NCBI Sequence Viewer
	CAI46076	(Get FASTA)	NCBI Sequence Viewer
	EAW92079	(Get FASTA)	NCBI Sequence Viewer
	Q14534	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_003120 ⟸ NM_003129

- UniProtKB:

Q14534 (UniProtKB/Swiss-Prot), Q5HYI4 (UniProtKB/TrEMBL), Q9UNR6 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MWTFLGIATFTYFYKKFGDFITLANREVLLCVLVFLSLGLVLSYRCRHRNGGLLGRQQSGSQFA
LFSDILSGLPFIGFFWAKSPPESENKEQLEARRRRKGTNISETSLIGTAACTSTSSQNDPEVII
VGAGVLGSALAAVLSRDGRKVTVIERDLKEPDRIVGEFLQPGGYHVLKDLGLGDTVEGLDAQVV
NGYMIHDQESKSEVQIPYPLSENNQVQSGRAFHHGRFIMSLRKAAMAEPNAKFIEGVVLQLLEE
DDVVMGVQYKDKETGDIKELHAPLTVVADGLFSKFRKSLVSNKVSVSSHFVGFLMKNAPQFKAN
HAELILANPSPVLIYQISSSETRVLVDIRGEMPRNLREYMVEKIYPQIPDHLKEPFLEATDNSH
LRSMPASFLPPSSVKKRGVLLLGDAYNMRHPLTGGGMTVAFKDIKLWRKLLKGIPDLYDDAAIF
EAKKSFYWARKTSHSFVVNILAQALYELFSATDDSLHQLRKACFLYFKLGGECVAGPVGLLSVL
SPNPLVLIGHFFAVAIYAVYFCFKSEPWITKPRALLSSGAVLYKACSVIFPLIYSEMKYMVH

hide sequence

RefSeq Acc Id:

XP_011515548 ⟸ XM_011517246

- Peptide Label:

isoform X1

- Sequence:

show sequence

MLEFHFEGEEQPLSMMKKFLKSSWVRIGFVPEEERNVLRRRKGTNISETSLIGTAACTSTSSQN
DPEVIIVGAGVLGSALAAVLSRDGRKVTVIERDLKEPDRIVGEFLQPGGYHVLKDLGLGDTVEG
LDAQVVNGYMIHDQESKSEVQIPYPLSENNQVQSGRAFHHGRFIMSLRKAAMAEPNAKFIEGVV
LQLLEEDDVVMGVQYKDKETGDIKELHAPLTVVADGLFSKFRKSLVSNKVSVSSHFVGFLMKNA
PQFKANHAELILANPSPVLIYQISSSETRVLVDIRGEMPRNLREYMVEKIYPQIPDHLKEPFLE
ATDNSHLRSMPASFLPPSSVKKRGVLLLGDAYNMRHPLTGGGMTVAFKDIKLWRKLLKGIPDLY
DDAAIFEAKKSFYWARKTSHSFVVNILAQALYELFSATDDSLHQLRKACFLYFKLGGECVAGPV
GLLSVLSPNPLVLIGHFFAVAIYAVYFCFKSEPWITKPRALLSSGAVLYKACSVIFPLIYSEMK
YMVH

hide 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 Assembly	Chr	Position (strand)	Source
GRCh38	8	124,998,505 - 124,998,565	EPDNEW

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 Assembly	Chr	Position (strand)	Source
Build 36	8	126,079,456 - 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

External Database Links

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

RGD Manual Annotations

Imported Annotations - SMPDB