MSMO1 (methylsterol monooxygenase 1) - Rat Genome Database

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Gene: MSMO1 (methylsterol monooxygenase 1) Homo sapiens
Analyze
Symbol: MSMO1
Name: methylsterol monooxygenase 1
RGD ID: 737148
HGNC Page HGNC
Description: Predicted to enable C-4 methylsterol oxidase activity. Predicted to be involved in sterol biosynthetic process. Predicted to be located in endoplasmic reticulum and plasma membrane. Predicted to be active in endoplasmic reticulum membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C-4 methyl sterol; C-4 methylsterol oxidase; DESP4; ERG25; MCCPD; methylsterol monooxygenase; MGC104344; SC4MOL; sterol-C4-methyl oxidase; sterol-C4-methyl oxidase-like
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: SC4MOP  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4165,327,667 - 165,343,164 (+)EnsemblGRCh38hg38GRCh38
GRCh384165,327,669 - 165,343,164 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh374166,248,821 - 166,264,316 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364166,468,268 - 166,483,675 (+)NCBINCBI36hg18NCBI36
Build 344166,606,462 - 166,621,472NCBI
Celera4163,584,245 - 163,599,652 (+)NCBI
Cytogenetic Map4q32.3NCBI
HuRef4162,000,630 - 162,016,125 (+)NCBIHuRef
CHM1_14166,225,277 - 166,240,769 (+)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
(+)-catechin  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(S)-nicotine  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-(3-(trifluoromethyl)phenyl)piperazine  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
1-benzylpiperazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
14-demethyllanosterol  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-hydroxypropanoic acid  (EXP)
2-methoxyethanol  (ISO)
2-methylcholine  (EXP)
22-Hydroxycholesterol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-methylcholanthrene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-bromo-2'-deoxyuridine  (ISO)
5alpha-cholest-7-en-3beta-ol  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
amitriptyline  (ISO)
aristolochic acid  (EXP)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
azathioprine  (EXP)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP)
caffeine  (ISO)
calcitriol  (EXP)
capsaicin  (EXP)
carbon nanotube  (EXP,ISO)
celastrol  (EXP)
cetrorelix  (EXP)
choline  (ISO)
chromium(6+)  (EXP,ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
clomipramine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
coumarin  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
cyproconazole  (ISO)
DDE  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
difenoconazole  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
erlotinib hydrochloride  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenarimol  (ISO)
fenofibrate  (ISO)
flavonoids  (ISO)
fluoranthene  (ISO)
flusilazole  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fumonisin B1  (ISO)
furan  (ISO)
Ganoderic acid A  (EXP)
gedunin  (EXP)
genistein  (ISO)
Heptachlor epoxide  (ISO)
hexaconazole  (ISO)
hydrogen peroxide  (EXP)
imipramine  (ISO)
indometacin  (EXP)
isotretinoin  (EXP)
kainic acid  (ISO)
ketamine  (ISO)
ketoconazole  (ISO)
L-methionine  (ISO)
leflunomide  (EXP,ISO)
lucanthone  (EXP)
LY294002  (EXP)
metformin  (ISO)
methapyrilene  (ISO)
methotrexate  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
methylparaben  (EXP)
mevastatin  (ISO)
miconazole  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nickel dichloride  (EXP)
nicotine  (EXP)
nitrofen  (ISO)
O-methyleugenol  (EXP)
obeticholic acid  (EXP)
ozone  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phenylephrine  (ISO)
phenylpropanolamine  (EXP)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
prochloraz  (ISO)
progesterone  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
quinolin-8-ol  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
ritodrine  (ISO)
rotenone  (EXP,ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sulindac sulfide  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
tebuconazole  (ISO)
temozolomide  (EXP)
testosterone  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP)
triadimefon  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
tunicamycin  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
xylitol  (EXP)
Yessotoxin  (EXP)
zoledronic acid  (EXP)
zymosterol  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8663358   PMID:8889548   PMID:12477932   PMID:15489334   PMID:16713569   PMID:18660489   PMID:19322201   PMID:21103663   PMID:21285510   PMID:21873635   PMID:22791750   PMID:22939629  
PMID:24144731   PMID:26186194   PMID:28298427   PMID:28380382   PMID:28514442   PMID:29180619   PMID:30021884   PMID:30463901   PMID:31091453   PMID:32296183   PMID:32694731   PMID:33161406  
PMID:33845483  


Genomics

Comparative Map Data
MSMO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4165,327,667 - 165,343,164 (+)EnsemblGRCh38hg38GRCh38
GRCh384165,327,669 - 165,343,164 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh374166,248,821 - 166,264,316 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364166,468,268 - 166,483,675 (+)NCBINCBI36hg18NCBI36
Build 344166,606,462 - 166,621,472NCBI
Celera4163,584,245 - 163,599,652 (+)NCBI
Cytogenetic Map4q32.3NCBI
HuRef4162,000,630 - 162,016,125 (+)NCBIHuRef
CHM1_14166,225,277 - 166,240,769 (+)NCBICHM1_1
Msmo1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39865,171,157 - 65,186,822 (-)NCBIGRCm39mm39
GRCm39 Ensembl865,171,173 - 65,186,826 (-)Ensembl
GRCm38864,718,123 - 64,733,578 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl864,718,139 - 64,733,792 (-)EnsemblGRCm38mm10GRCm38
MGSCv37867,196,942 - 67,212,375 (-)NCBIGRCm37mm9NCBIm37
MGSCv36867,610,337 - 67,625,770 (-)NCBImm8
Celera867,282,044 - 67,297,655 (-)NCBICelera
Cytogenetic Map8B3.1NCBI
Msmo1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21624,980,680 - 24,997,927 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1624,980,697 - 24,998,016 (+)Ensembl
Rnor_6.01626,859,441 - 26,875,880 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1626,859,397 - 26,875,973 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01626,738,367 - 26,754,806 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41626,698,324 - 26,716,247 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11626,698,321 - 26,716,245 (+)NCBI
Celera1625,065,073 - 25,082,320 (+)NCBICelera
Cytogenetic Map16p13NCBI
Msmo1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540339,989,409 - 40,009,890 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540339,991,528 - 40,009,047 (-)NCBIChiLan1.0ChiLan1.0
MSMO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14169,606,760 - 169,622,218 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4169,606,809 - 169,622,212 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v04157,523,099 - 157,538,508 (+)NCBIMhudiblu_PPA_v0panPan3
MSMO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11561,293,769 - 61,307,285 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX8,144,335 - 8,145,216 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1561,293,769 - 61,307,285 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1561,603,112 - 61,616,553 (+)NCBI
ROS_Cfam_1.01562,155,920 - 62,169,411 (+)NCBI
UMICH_Zoey_3.11561,337,450 - 61,350,976 (+)NCBI
UNSW_CanFamBas_1.01561,380,852 - 61,394,331 (+)NCBI
UU_Cfam_GSD_1.01561,774,960 - 61,788,473 (+)NCBI
Msmo1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494317,892,375 - 17,906,243 (+)NCBI
SpeTri2.0NW_004936555664,171 - 678,082 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MSMO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl843,726,855 - 43,744,714 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1843,726,834 - 43,745,784 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2845,557,631 - 45,618,277 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MSMO1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17111,688,591 - 111,704,765 (+)NCBI
ChlSab1.1 Ensembl7111,688,604 - 111,704,849 (+)Ensembl
Vero_WHO_p1.0NW_02366603791,538,871 - 91,557,835 (+)NCBI
Msmo1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475811,629,824 - 11,644,071 (-)NCBI

Position Markers
STS-D29470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374166,250,525 - 166,250,681UniSTSGRCh37
Build 364166,469,975 - 166,470,131RGDNCBI36
Celera4163,585,952 - 163,586,108RGD
Cytogenetic Map4q32-q34UniSTS
HuRef4162,002,337 - 162,002,493UniSTS
GeneMap99-GB4 RH Map4655.65UniSTS
1362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374166,257,656 - 166,257,741UniSTSGRCh37
Build 364166,477,106 - 166,477,191RGDNCBI36
Celera4163,593,085 - 163,593,170RGD
Cytogenetic Map4q32-q34UniSTS
HuRef4162,009,469 - 162,009,554UniSTS
GeneMap99-GB4 RH Map4661.95UniSTS
NCBI RH Map41671.9UniSTS
SHGC-33293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374166,263,845 - 166,263,994UniSTSGRCh37
Build 364166,483,295 - 166,483,444RGDNCBI36
Celera4163,599,272 - 163,599,421RGD
Cytogenetic Map4q32-q34UniSTS
HuRef4162,015,654 - 162,015,803UniSTS
TNG Radiation Hybrid Map498988.0UniSTS
GeneMap99-G3 RH Map48902.0UniSTS
A007J08  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374166,264,027 - 166,264,272UniSTSGRCh37
Build 364166,483,477 - 166,483,722RGDNCBI36
Celera4163,599,454 - 163,599,699RGD
Cytogenetic Map4q32-q34UniSTS
HuRef4162,015,836 - 162,016,081UniSTS
GeneMap99-GB4 RH Map4662.02UniSTS
G33491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374166,263,944 - 166,264,197UniSTSGRCh37
Build 364166,483,394 - 166,483,647RGDNCBI36
Celera4163,599,371 - 163,599,624RGD
Cytogenetic Map4q32-q34UniSTS
HuRef4162,015,753 - 162,016,006UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
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Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1047
Count of miRNA genes:458
Interacting mature miRNAs:502
Transcripts:ENST00000261507, ENST00000393766, ENST00000504317, ENST00000505270, ENST00000507013
Prediction methods: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.


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 8 6 6 4 1
Medium 1757 1461 1671 614 1151 459 3287 591 3523 396 1435 1578 171 1 964 1866 6 2
Low 682 1525 47 4 796 1070 1605 211 23 21 34 4 240 922
Below cutoff 5 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001017369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV704962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU676028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU940384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX441001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB336810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH768149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U60205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U93162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261507   ⟹   ENSP00000261507
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4165,327,669 - 165,343,164 (+)Ensembl
RefSeq Acc Id: ENST00000393766   ⟹   ENSP00000377361
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4165,327,686 - 165,343,029 (+)Ensembl
RefSeq Acc Id: ENST00000504317   ⟹   ENSP00000423633
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4165,327,721 - 165,340,640 (+)Ensembl
RefSeq Acc Id: ENST00000505270   ⟹   ENSP00000425112
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4165,327,927 - 165,333,625 (+)Ensembl
RefSeq Acc Id: ENST00000507013   ⟹   ENSP00000425241
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4165,327,667 - 165,340,351 (+)Ensembl
RefSeq Acc Id: NM_001017369   ⟹   NP_001017369
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384165,327,669 - 165,343,164 (+)NCBI
GRCh374166,248,818 - 166,264,316 (+)NCBI
Build 364166,468,268 - 166,483,675 (+)NCBI Archive
Celera4163,584,245 - 163,599,652 (+)RGD
HuRef4162,000,630 - 162,016,125 (+)NCBI
CHM1_14166,225,277 - 166,240,769 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006745   ⟹   NP_006736
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384165,327,669 - 165,343,164 (+)NCBI
GRCh374166,248,818 - 166,264,316 (+)NCBI
Build 364166,468,268 - 166,483,675 (+)NCBI Archive
Celera4163,584,245 - 163,599,652 (+)RGD
HuRef4162,000,630 - 162,016,125 (+)NCBI
CHM1_14166,225,277 - 166,240,769 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005263176   ⟹   XP_005263233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384165,327,731 - 165,343,073 (+)NCBI
GRCh374166,248,818 - 166,264,316 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006736   ⟸   NM_006745
- Peptide Label: isoform 1
- UniProtKB: Q15800 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001017369   ⟸   NM_001017369
- Peptide Label: isoform 2
- UniProtKB: Q15800 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005263233   ⟸   XM_005263176
- Peptide Label: isoform X1
- UniProtKB: Q15800 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000423633   ⟸   ENST00000504317
RefSeq Acc Id: ENSP00000425112   ⟸   ENST00000505270
RefSeq Acc Id: ENSP00000425241   ⟸   ENST00000507013
RefSeq Acc Id: ENSP00000377361   ⟸   ENST00000393766
RefSeq Acc Id: ENSP00000261507   ⟸   ENST00000261507
Protein Domains
Fatty acid hydroxylase

Promoters
RGD ID:6868836
Promoter ID:EPDNEW_H7583
Type:initiation region
Name:MSMO1_1
Description:methylsterol monooxygenase 1
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
GRCh384165,327,708 - 165,327,768EPDNEW
RGD ID:6802593
Promoter ID:HG_KWN:49418
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000261507,   NM_001017369,   UC010IRB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364166,467,491 - 166,468,567 (+)MPROMDB
RGD ID:6850954
Promoter ID:EP73272
Type:initiation region
Name:HS_SC4MOL
Description:Sterol-C4-methyl oxidase-like.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 364166,468,322 - 166,468,382EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 copy number gain See cases [RCV000050649] Chr4:162013220..189975519 [GRCh38]
Chr4:162934372..190828225 [GRCh37]
Chr4:163153822..191133668 [NCBI36]
Chr4:4q32.2-35.2
pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2
pathogenic
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 copy number gain See cases [RCV000051788] Chr4:147317283..173675559 [GRCh38]
Chr4:148238435..174596710 [GRCh37]
Chr4:148457885..174833285 [NCBI36]
Chr4:4q31.22-34.1
pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2
pathogenic
GRCh38/hg38 4q32.2-32.3(chr4:161592038-165721577)x3 copy number gain See cases [RCV000051791] Chr4:161592038..165721577 [GRCh38]
Chr4:162513190..166642729 [GRCh37]
Chr4:162732640..166862179 [NCBI36]
Chr4:4q32.2-32.3
pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] Chr4:158568335..189975660 [GRCh38]
Chr4:159489487..190828225 [GRCh37]
Chr4:159708937..191133809 [NCBI36]
Chr4:4q32.1-35.2
pathogenic
GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1 copy number loss See cases [RCV000053326] Chr4:162723818..172501433 [GRCh38]
Chr4:163644970..173422584 [GRCh37]
Chr4:163864420..173659159 [NCBI36]
Chr4:4q32.2-34.1
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|See cases [RCV000053327] Chr4:163651681..189975519 [GRCh38]
Chr4:164572833..190828225 [GRCh37]
Chr4:164792283..191133668 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 copy number loss See cases [RCV000053347] Chr4:164039530..189982708 [GRCh38]
Chr4:164960682..190828225 [GRCh37]
Chr4:165180132..191140857 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2
pathogenic
GRCh38/hg38 4q32.1-32.3(chr4:158387928-166845726)x3 copy number gain See cases [RCV000136603] Chr4:158387928..166845726 [GRCh38]
Chr4:159309080..167766877 [GRCh37]
Chr4:159528530..168003452 [NCBI36]
Chr4:4q32.1-32.3
pathogenic|uncertain significance
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2
pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1
pathogenic|likely benign
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1 copy number loss See cases [RCV000140414] Chr4:165281036..190018185 [GRCh38]
Chr4:166202188..190939340 [GRCh37]
Chr4:166421638..191176334 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 copy number gain See cases [RCV000140982] Chr4:160757699..190091407 [GRCh38]
Chr4:161678851..191012562 [GRCh37]
Chr4:161898301..191246543 [NCBI36]
Chr4:4q32.1-35.2
pathogenic
GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1 copy number loss See cases [RCV000141861] Chr4:155162982..170959553 [GRCh38]
Chr4:156084134..171880704 [GRCh37]
Chr4:156303584..172117279 [NCBI36]
Chr4:4q32.1-33
pathogenic
GRCh38/hg38 4q32.3(chr4:164837643-167576305)x1 copy number loss See cases [RCV000142339] Chr4:164837643..167576305 [GRCh38]
Chr4:165758795..168497456 [GRCh37]
Chr4:165978245..168734031 [NCBI36]
Chr4:4q32.3
uncertain significance
GRCh38/hg38 4q32.2-32.3(chr4:161590861-165734658)x3 copy number gain See cases [RCV000143095] Chr4:161590861..165734658 [GRCh38]
Chr4:162512013..166655810 [GRCh37]
Chr4:162731463..166875260 [NCBI36]
Chr4:4q32.2-32.3
uncertain significance
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2
pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1
pathogenic
NM_006745.5(MSMO1):c.736G>C (p.Gly246Arg) single nucleotide variant Microcephaly, congenital cataract, and psoriasiform dermatitis [RCV000208578] Chr4:165341800 [GRCh38]
Chr4:166262952 [GRCh37]
Chr4:4q32.3
pathogenic
NM_006745.5(MSMO1):c.731A>G (p.Tyr244Cys) single nucleotide variant Inborn genetic diseases [RCV000622619]|Microcephaly, congenital cataract, and psoriasiform dermatitis [RCV000208576] Chr4:165341795 [GRCh38]
Chr4:166262947 [GRCh37]
Chr4:4q32.3
pathogenic|likely pathogenic
NM_006745.5(MSMO1):c.519T>A (p.His173Gln) single nucleotide variant Microcephaly, congenital cataract, and psoriasiform dermatitis [RCV000208581] Chr4:165338766 [GRCh38]
Chr4:166259918 [GRCh37]
Chr4:4q32.3
pathogenic|likely pathogenic
GRCh37/hg19 4q32.2-34.2(chr4:162344510-177103037)x1 copy number loss See cases [RCV000239855] Chr4:162344510..177103037 [GRCh37]
Chr4:4q32.2-34.2
pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain See cases [RCV000512542] Chr4:156465633..190957473 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1 copy number loss See cases [RCV000512340] Chr4:162205710..182329883 [GRCh37]
Chr4:4q32.2-34.3
pathogenic
NM_006745.5(MSMO1):c.536C>T (p.Pro179Leu) single nucleotide variant Inborn genetic diseases [RCV000624749] Chr4:165340225 [GRCh38]
Chr4:166261377 [GRCh37]
Chr4:4q32.3
uncertain significance
GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3 copy number gain not provided [RCV000682475] Chr4:157552397..183831253 [GRCh37]
Chr4:4q32.1-35.1
pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3 copy number gain not provided [RCV000682478] Chr4:159492464..190957473 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
Single allele deletion not provided [RCV000677975] Chr4:164428194..173480785 [GRCh37]
Chr4:4q32.2-34.1
likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_006745.5(MSMO1):c.303T>C (p.Leu101=) single nucleotide variant not provided [RCV000902647] Chr4:165337836 [GRCh38]
Chr4:166258988 [GRCh37]
Chr4:4q32.3
likely benign
NM_006745.5(MSMO1):c.371A>G (p.Asn124Ser) single nucleotide variant not provided [RCV000964976] Chr4:165337904 [GRCh38]
Chr4:166259056 [GRCh37]
Chr4:4q32.3
benign
NM_006745.5(MSMO1):c.610G>A (p.Val204Met) single nucleotide variant not provided [RCV000906210] Chr4:165340299 [GRCh38]
Chr4:166261451 [GRCh37]
Chr4:4q32.3
likely benign
GRCh37/hg19 4q32.3-34.2(chr4:165069355-177189728)x3 copy number gain not provided [RCV000846267] Chr4:165069355..177189728 [GRCh37]
Chr4:4q32.3-34.2
pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1
pathogenic
NM_006745.5(MSMO1):c.376C>G (p.Pro126Ala) single nucleotide variant not provided [RCV000903119] Chr4:165337909 [GRCh38]
Chr4:166259061 [GRCh37]
Chr4:4q32.3
benign
NM_006745.5(MSMO1):c.296A>G (p.Lys99Arg) single nucleotide variant not provided [RCV000918379] Chr4:165337829 [GRCh38]
Chr4:166258981 [GRCh37]
Chr4:4q32.3
benign
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1 copy number loss not provided [RCV001005612] Chr4:165010461..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 copy number gain not provided [RCV001537926] Chr4:131303317..168722402 [GRCh37]
Chr4:4q28.3-32.3
pathogenic
GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278) copy number loss Autism with high cognitive abilities [RCV001352663] Chr4:157771352..172496278 [GRCh37]
Chr4:4q32.1-34.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10545 AgrOrtholog
COSMIC MSMO1 COSMIC
Ensembl Genes ENSG00000052802 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261507 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377361 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000423633 UniProtKB/TrEMBL
  ENSP00000425112 UniProtKB/TrEMBL
  ENSP00000425241 UniProtKB/TrEMBL
Ensembl Transcript ENST00000261507 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000393766 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000504317 UniProtKB/TrEMBL
  ENST00000505270 UniProtKB/TrEMBL
  ENST00000507013 UniProtKB/TrEMBL
GTEx ENSG00000052802 GTEx
HGNC ID HGNC:10545 ENTREZGENE
Human Proteome Map MSMO1 Human Proteome Map
InterPro Fatty_acid_hydroxylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6307 UniProtKB/Swiss-Prot
NCBI Gene 6307 ENTREZGENE
OMIM 607545 OMIM
  616834 OMIM
Pfam FA_hydroxylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34955 PharmGKB
UniProt D6R952_HUMAN UniProtKB/TrEMBL
  D6RDP9_HUMAN UniProtKB/TrEMBL
  D6REA2_HUMAN UniProtKB/TrEMBL
  MSMO1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K8Q3 UniProtKB/Swiss-Prot
  A8MYF6 UniProtKB/Swiss-Prot
  D3DP32 UniProtKB/Swiss-Prot
  Q32Q24 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-09-13 MSMO1  methylsterol monooxygenase 1  SC4MOL  sterol-C4-methyl oxidase-like  Symbol and/or name change 5135510 APPROVED