FDPS (farnesyl diphosphate synthase) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: FDPS (farnesyl diphosphate synthase) Homo sapiens
Analyze
Symbol: FDPS
Name: farnesyl diphosphate synthase
RGD ID: 69022
HGNC Page HGNC:3631
Description: Enables RNA binding activity. Predicted to be involved in farnesyl diphosphate biosynthetic process. Located in several cellular components, including mitochondrial matrix; nucleoplasm; and peroxisome. Implicated in porokeratosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: (2E,6E)-farnesyl diphosphate synthase; dimethylallyltranstransferase; farensyl diphosphate synthase; farnesyl diphosphate synthase (farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase); farnesyl pyrophosphate synthase; farnesyl pyrophosphate synthetase; farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase; FPP synthase; FPP synthetase; FPPS; FPS; geranyltranstransferase; POROK9
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: FDPSP1   FDPSP10   FDPSP2   FDPSP3   FDPSP4   FDPSP5   FDPSP6   FDPSP7   FDPSP8   FDPSP9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381155,308,866 - 155,320,665 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1155,308,748 - 155,320,666 (+)EnsemblGRCh38hg38GRCh38
GRCh371155,278,657 - 155,290,456 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361153,545,374 - 153,557,080 (+)NCBINCBI36Build 36hg18NCBI36
Build 341152,092,649 - 152,103,529NCBI
Celera1128,351,680 - 128,363,599 (+)NCBICelera
Cytogenetic Map1q22NCBI
HuRef1126,640,838 - 126,652,759 (+)NCBIHuRef
CHM1_11156,673,976 - 156,685,898 (+)NCBICHM1_1
T2T-CHM13v2.01154,447,406 - 154,459,205 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-(3-(trifluoromethyl)phenyl)piperazine  (ISO)
1-benzylpiperazine  (ISO)
1-naphthyl isothiocyanate  (EXP,ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4-diaminotoluene  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2-amino-14,16-dimethyloctadecan-3-ol  (EXP)
3,3',5-triiodo-L-thyronine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-methylcholanthrene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-amino-2,6-dinitrotoluene  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
Actein  (ISO)
aflatoxin B1  (EXP,ISO)
alachlor  (ISO)
alendronic acid  (EXP)
amiodarone  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
antimony(0)  (EXP)
Archazolid B  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
avobenzone  (EXP)
Azaspiracid  (EXP)
azoxystrobin  (EXP)
benzatropine  (EXP)
benzbromarone  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
beta-naphthoflavone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bromobenzene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cannabidiol  (ISO)
capsaicin  (ISO)
carbon nanotube  (EXP,ISO)
CGP 52608  (EXP)
chloroethene  (ISO)
cholesterol  (ISO)
chromium(6+)  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
clozapine  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
CU-O LINKAGE  (ISO)
Cuprizon  (EXP)
curcumin  (EXP,ISO)
cyclosporin A  (EXP)
cyproconazole  (ISO)
decabromodiphenyl ether  (EXP)
deoxynivalenol  (EXP)
dexamethasone  (ISO)
Di-n-hexyl phthalate  (ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichloromethane  (ISO)
Dicyclohexyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
dinophysistoxin 1  (EXP)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diuron  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fluoranthene  (ISO)
flusilazole  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fumonisin B1  (ISO)
Ganoderic acid A  (EXP,ISO)
glafenine  (ISO)
hexaconazole  (ISO)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
inulin  (ISO)
iodide salt  (ISO)
isopentenyl diphosphate  (EXP)
isotretinoin  (EXP)
ivermectin  (EXP)
ketoconazole  (ISO)
L-ethionine  (ISO)
lead nitrate  (ISO)
loperamide  (ISO)
lovastatin  (ISO)
manganese(II) chloride  (ISO)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
methylarsonic acid  (ISO)
methyltestosterone  (EXP)
mevalonic acid  (ISO)
miconazole  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
monosodium L-glutamate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (EXP)
N-nitrosomorpholine  (ISO)
nickel dichloride  (EXP)
nitrofen  (ISO)
obeticholic acid  (EXP)
okadaic acid  (EXP)
oleic acid  (EXP)
omeprazole  (ISO)
ozone  (EXP,ISO)
paclitaxel  (EXP)
pamidronate  (EXP,ISO)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phenylpropanolamine  (EXP)
picoxystrobin  (EXP)
pinosylvin  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium dichromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
quercetin  (EXP)
quercetin 3-O-beta-D-glucofuranoside  (EXP)
quercetin 3-O-beta-D-glucopyranoside  (EXP)
quinolin-8-ol  (EXP)
resveratrol  (EXP)
Risedronate sodium  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
simvastatin  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
Soman  (ISO)
sulfadimethoxine  (ISO)
sulindac sulfide  (EXP)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (EXP,ISO)
trans-pinosylvin  (EXP)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
zoledronic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (IDA,TAS)
membrane  (IEA)
mitochondrial matrix  (IDA,ISO)
nucleoplasm  (IDA)
peroxisome  (IDA,ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Defects of cholesterol biosynthesis. Waterham HR FEBS Lett. 2006 Oct 9;580(23):5442-9. Epub 2006 Jul 20.
Additional References at PubMed
PMID:1968462   PMID:2018485   PMID:2690933   PMID:7584026   PMID:8188698   PMID:9030588   PMID:10620343   PMID:11160603   PMID:11773414   PMID:11785983   PMID:12020352   PMID:12107413  
PMID:12477932   PMID:14702039   PMID:15146197   PMID:15342556   PMID:15713990   PMID:16344560   PMID:16650801   PMID:16684881   PMID:16713569   PMID:17198737   PMID:17368768   PMID:17387528  
PMID:17963374   PMID:18029348   PMID:18325729   PMID:18327899   PMID:18494934   PMID:18660489   PMID:18687167   PMID:19056481   PMID:19060904   PMID:19494338   PMID:20191015   PMID:20450493  
PMID:20877624   PMID:21151198   PMID:21196316   PMID:21516116   PMID:21873635   PMID:22278941   PMID:22338925   PMID:22407328   PMID:22658674   PMID:22863883   PMID:23234314   PMID:23238007  
PMID:23277274   PMID:23847096   PMID:23956138   PMID:23998921   PMID:24311107   PMID:24369118   PMID:24534219   PMID:24598914   PMID:24927548   PMID:25630225   PMID:25659154   PMID:25921289  
PMID:26344197   PMID:26499835   PMID:26760575   PMID:27684187   PMID:28098152   PMID:28514442   PMID:28700943   PMID:29036218   PMID:29075041   PMID:29117863   PMID:29337059   PMID:29467282  
PMID:29791485   PMID:29955894   PMID:30021884   PMID:30033366   PMID:30097533   PMID:30561051   PMID:30833792   PMID:30914801   PMID:31299612   PMID:31332168   PMID:31536960   PMID:31586073  
PMID:31774873   PMID:31796584   PMID:31980649   PMID:32296183   PMID:32814053   PMID:32971831   PMID:33417871   PMID:33961781   PMID:34189442   PMID:34645483   PMID:34751146   PMID:34885721  
PMID:35063084   PMID:35256949   PMID:35271311   PMID:35439318   PMID:35509820   PMID:35545034   PMID:35562734   PMID:35831314   PMID:35906200   PMID:35944360   PMID:36114006   PMID:36215168  
PMID:37310396   PMID:37314216   PMID:37827155   PMID:38496616   PMID:38891810  


Genomics

Comparative Map Data
FDPS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381155,308,866 - 155,320,665 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1155,308,748 - 155,320,666 (+)EnsemblGRCh38hg38GRCh38
GRCh371155,278,657 - 155,290,456 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361153,545,374 - 153,557,080 (+)NCBINCBI36Build 36hg18NCBI36
Build 341152,092,649 - 152,103,529NCBI
Celera1128,351,680 - 128,363,599 (+)NCBICelera
Cytogenetic Map1q22NCBI
HuRef1126,640,838 - 126,652,759 (+)NCBIHuRef
CHM1_11156,673,976 - 156,685,898 (+)NCBICHM1_1
T2T-CHM13v2.01154,447,406 - 154,459,205 (+)NCBIT2T-CHM13v2.0
Fdps
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39389,000,895 - 89,009,274 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl389,000,895 - 89,009,266 (-)EnsemblGRCm39 Ensembl
GRCm38389,093,588 - 89,101,967 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl389,093,588 - 89,101,959 (-)EnsemblGRCm38mm10GRCm38
MGSCv37388,897,510 - 88,905,867 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36389,179,515 - 89,187,872 (-)NCBIMGSCv36mm8
Celera389,132,279 - 89,140,636 (-)NCBICelera
Cytogenetic Map3F1NCBI
cM Map339.01NCBI
Fdps
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82176,795,192 - 176,804,816 (-)NCBIGRCr8
mRatBN7.22174,497,402 - 174,507,031 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2174,486,665 - 174,507,776 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2181,643,561 - 181,653,177 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02179,665,921 - 179,675,537 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02174,265,880 - 174,275,498 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02188,403,595 - 188,413,219 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2188,392,858 - 188,413,219 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02207,816,332 - 207,826,348 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42181,138,474 - 181,177,903 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12181,119,007 - 181,128,009 (-)NCBI
Celera2168,441,483 - 168,451,110 (-)NCBICelera
Cytogenetic Map2q34NCBI
Fdps
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555451,757,418 - 1,765,028 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555451,757,090 - 1,765,028 (+)NCBIChiLan1.0ChiLan1.0
FDPS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2194,523,831 - 94,535,834 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1194,255,158 - 94,267,161 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01130,653,316 - 130,665,196 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11134,258,881 - 134,270,237 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1134,258,968 - 134,270,237 (+)Ensemblpanpan1.1panPan2
FDPS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1742,241,086 - 42,250,373 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl742,241,107 - 42,250,225 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha741,731,911 - 41,741,200 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0742,110,187 - 42,119,478 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl742,110,191 - 42,119,346 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1741,890,063 - 41,899,349 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0741,943,839 - 41,953,128 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0742,227,832 - 42,237,121 (-)NCBIUU_Cfam_GSD_1.0
Fdps
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505825,768,903 - 25,778,024 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365804,799,354 - 4,808,406 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FDPS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl494,500,141 - 94,518,408 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1494,500,140 - 94,514,820 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24103,291,797 - 103,304,940 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FDPS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1208,514,311 - 8,526,363 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660387,851,669 - 7,864,161 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fdps
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624885943,571 - 949,528 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624885942,998 - 949,529 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FDPS
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002004.4(FDPS):c.684+1G>A single nucleotide variant Porokeratosis 9, multiple types [RCV000201790] Chr1:155318292 [GRCh38]
Chr1:155288083 [GRCh37]
Chr1:1q22		 pathogenic
GRCh38/hg38 1q22(chr1:155182457-155787428)x3 copy number gain See cases [RCV000051164] Chr1:155182457..155787428 [GRCh38]
Chr1:155154933..155757219 [GRCh37]
Chr1:153421557..154023843 [NCBI36]
Chr1:1q22		 uncertain significance
NM_001039517.1(RUSC1-AS1):c.413T>A (p.Leu138Gln) single nucleotide variant Malignant melanoma [RCV000064193] Chr1:155321076 [GRCh38]
Chr1:155290867 [GRCh37]
Chr1:153557491 [NCBI36]
Chr1:1q22		 not provided
NM_002004.4(FDPS):c.-1-98T>G single nucleotide variant Bisphosphonates response - Efficacy [RCV000211252] Chr1:155309691 [GRCh38]
Chr1:155309691..155309692 [GRCh38]
Chr1:155279482 [GRCh37]
Chr1:155279482..155279483 [GRCh37]
Chr1:1q22		 drug response
GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3 copy number gain See cases [RCV000140157] Chr1:155006546..155464263 [GRCh38]
Chr1:154979022..155434054 [GRCh37]
Chr1:153245646..153700678 [NCBI36]
Chr1:1q21.3-22		 uncertain significance
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 copy number gain See cases [RCV000139902] Chr1:154566501..157624084 [GRCh38]
Chr1:154538977..157593874 [GRCh37]
Chr1:152805601..155860498 [NCBI36]
Chr1:1q21.3-23.1		 pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
NM_002004.4(FDPS):c.536G>A (p.Arg179Gln) single nucleotide variant Porokeratosis 9, multiple types [RCV000201791] Chr1:155317996 [GRCh38]
Chr1:155287787 [GRCh37]
Chr1:1q22		 pathogenic
NM_002004.4(FDPS):c.481-1776_847-143del deletion Porokeratosis 9, multiple types [RCV000201787] Chr1:155316165..155319468 [GRCh38]
Chr1:155285951..155289254 [GRCh37]
Chr1:1q22		 pathogenic|uncertain significance
Single allele inversion Pediatric metastatic thyroid tumour [RCV000585807] Chr1:154130985..156843877 [GRCh37]
Chr1:1q21.3-23.1		 likely pathogenic
NC_000001.11:g.(?_155282411)_(155323834_?)del deletion not provided [RCV000816636] Chr1:155282411..155323834 [GRCh38]
Chr1:155252202..155293625 [GRCh37]
Chr1:1q22		 pathogenic
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3 copy number gain not provided [RCV000585385] Chr1:153751465..156660462 [GRCh37]
Chr1:1q21.3-23.1		 likely pathogenic
GRCh37/hg19 1q22(chr1:155282294-155383478)x1 copy number loss See cases [RCV000446785] Chr1:155282294..155383478 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_002004.4(FDPS):c.151T>G (p.Cys51Gly) single nucleotide variant not specified [RCV004282008] Chr1:155309940 [GRCh38]
Chr1:155279731 [GRCh37]
Chr1:1q22		 uncertain significance
NM_002004.4(FDPS):c.1000A>G (p.Ser334Gly) single nucleotide variant not specified [RCV004328500] Chr1:155319869 [GRCh38]
Chr1:155289660 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_002004.4(FDPS):c.1091T>C (p.Val364Ala) single nucleotide variant FDPS-related disorder [RCV003975362]|not provided [RCV000845049] Chr1:155320440 [GRCh38]
Chr1:155320440..155320441 [GRCh38]
Chr1:155290231 [GRCh37]
Chr1:155290231..155290232 [GRCh37]
Chr1:1q22		 benign|not provided
NM_002004.4(FDPS):c.249C>T (p.Phe83=) single nucleotide variant not provided [RCV000931106] Chr1:155310115 [GRCh38]
Chr1:155279906 [GRCh37]
Chr1:1q22		 likely benign
NM_002004.4(FDPS):c.684+2T>G single nucleotide variant not provided [RCV001036148] Chr1:155318293 [GRCh38]
Chr1:155288084 [GRCh37]
Chr1:1q22		 likely pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.10:g.(?_154141761)_(156851434_?)dup duplication Charcot-Marie-Tooth disease type 2 [RCV001990060] Chr1:154141761..156851434 [GRCh37]
Chr1:1q21.3-23.1		 uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup duplication Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1		 uncertain significance
NM_002004.4(FDPS):c.587A>G (p.Asn196Ser) single nucleotide variant not specified [RCV004154124] Chr1:155318194 [GRCh38]
Chr1:155287985 [GRCh37]
Chr1:1q22		 uncertain significance
NM_002004.4(FDPS):c.742A>C (p.Asn248His) single nucleotide variant not specified [RCV004178265] Chr1:155318722 [GRCh38]
Chr1:155288513 [GRCh37]
Chr1:1q22		 uncertain significance
NM_002004.4(FDPS):c.47C>T (p.Pro16Leu) single nucleotide variant not specified [RCV004167675] Chr1:155309836 [GRCh38]
Chr1:155279627 [GRCh37]
Chr1:1q22		 uncertain significance
NM_002004.4(FDPS):c.240G>C (p.Lys80Asn) single nucleotide variant not specified [RCV004103543] Chr1:155310106 [GRCh38]
Chr1:155279897 [GRCh37]
Chr1:1q22		 uncertain significance
NM_002004.4(FDPS):c.869A>C (p.Glu290Ala) single nucleotide variant not specified [RCV004094350] Chr1:155319633 [GRCh38]
Chr1:155289424 [GRCh37]
Chr1:1q22		 uncertain significance
NM_002004.4(FDPS):c.1046A>C (p.Tyr349Ser) single nucleotide variant not specified [RCV004275212] Chr1:155319915 [GRCh38]
Chr1:155289706 [GRCh37]
Chr1:1q22		 uncertain significance
NM_002004.4(FDPS):c.270C>G (p.Ile90Met) single nucleotide variant not specified [RCV004257249] Chr1:155310136 [GRCh38]
Chr1:155279927 [GRCh37]
Chr1:1q22		 uncertain significance
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1		 pathogenic
NM_002004.4(FDPS):c.650C>A (p.Pro217His) single nucleotide variant not specified [RCV004353120] Chr1:155318257 [GRCh38]
Chr1:155288048 [GRCh37]
Chr1:1q22		 uncertain significance
NM_002004.4(FDPS):c.142C>T (p.Arg48Cys) single nucleotide variant FDPS-related disorder [RCV003941486] Chr1:155309931 [GRCh38]
Chr1:155279722 [GRCh37]
Chr1:1q22		 benign
GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1 copy number loss not specified [RCV003986928] Chr1:154302443..156868186 [GRCh37]
Chr1:1q21.3-23.1		 pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
NM_002004.4(FDPS):c.849A>G (p.Ala283=) single nucleotide variant FDPS-related disorder [RCV003976806] Chr1:155319613 [GRCh38]
Chr1:155289404 [GRCh37]
Chr1:1q22		 likely benign
NM_002004.4(FDPS):c.189C>T (p.Ser63=) single nucleotide variant FDPS-related disorder [RCV003929812] Chr1:155310055 [GRCh38]
Chr1:155279846 [GRCh37]
Chr1:1q22		 benign
NM_002004.4(FDPS):c.359T>C (p.Ile120Thr) single nucleotide variant FDPS-related disorder [RCV003911557] Chr1:155312274 [GRCh38]
Chr1:155282065 [GRCh37]
Chr1:1q22		 benign
NM_002004.4(FDPS):c.657C>T (p.Tyr219=) single nucleotide variant FDPS-related disorder [RCV003896903] Chr1:155318264 [GRCh38]
Chr1:155288055 [GRCh37]
Chr1:1q22		 likely benign
NM_002004.4(FDPS):c.673C>G (p.Leu225Val) single nucleotide variant not specified [RCV004391678] Chr1:155318280 [GRCh38]
Chr1:155288071 [GRCh37]
Chr1:1q22		 uncertain significance
NM_002004.4(FDPS):c.583A>G (p.Ile195Val) single nucleotide variant not specified [RCV004391676] Chr1:155318190 [GRCh38]
Chr1:155287981 [GRCh37]
Chr1:1q22		 uncertain significance
NM_002004.4(FDPS):c.311T>C (p.Ile104Thr) single nucleotide variant not specified [RCV004391675] Chr1:155310177 [GRCh38]
Chr1:155279968 [GRCh37]
Chr1:1q22		 likely benign
NM_002004.4(FDPS):c.106G>A (p.Val36Met) single nucleotide variant not specified [RCV004391674] Chr1:155309895 [GRCh38]
Chr1:155279686 [GRCh37]
Chr1:1q22		 uncertain significance
NM_002004.4(FDPS):c.919A>G (p.Ile307Val) single nucleotide variant not specified [RCV004391679] Chr1:155319683 [GRCh38]
Chr1:155289474 [GRCh37]
Chr1:1q22		 uncertain significance
NM_002004.4(FDPS):c.986A>C (p.Gln329Pro) single nucleotide variant not specified [RCV004391680] Chr1:155319855 [GRCh38]
Chr1:155289646 [GRCh37]
Chr1:1q22		 uncertain significance
NM_002004.4(FDPS):c.328C>T (p.Arg110Trp) single nucleotide variant not specified [RCV004618579] Chr1:155310194 [GRCh38]
Chr1:155279985 [GRCh37]
Chr1:1q22		 uncertain significance
NM_002004.4(FDPS):c.356C>T (p.Ala119Val) single nucleotide variant not specified [RCV004618580] Chr1:155312271 [GRCh38]
Chr1:155282062 [GRCh37]
Chr1:1q22		 uncertain significance
NM_002004.4(FDPS):c.309G>T (p.Glu103Asp) single nucleotide variant not specified [RCV004618581] Chr1:155310175 [GRCh38]
Chr1:155279966 [GRCh37]
Chr1:1q22		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4860
Count of miRNA genes:989
Interacting mature miRNAs:1223
Transcripts:ENST00000356657, ENST00000368356, ENST00000447866, ENST00000461507, ENST00000465559, ENST00000467076, ENST00000468479, ENST00000470171, ENST00000471117, ENST00000474345, ENST00000477057, ENST00000487002, ENST00000489003, ENST00000489324, ENST00000490140, ENST00000491013, ENST00000492244, ENST00000492887, ENST00000495308
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human
407217060GWAS866036_Hvitamin D measurement QTL GWAS866036 (human)8e-14vitamin D measurement1155319754155319755Human
406892505GWAS541481_HX-16576 measurement QTL GWAS541481 (human)2e-11X-16576 measurement1155320440155320441Human
406892506GWAS541482_Hmetabolite measurement QTL GWAS541482 (human)9e-12metabolite measurement1155320440155320441Human
407191343GWAS840319_Hcarpal tunnel syndrome QTL GWAS840319 (human)8e-11carpal tunnel syndrome1155320440155320441Human
407060287GWAS709263_Hvitamin D measurement QTL GWAS709263 (human)3e-15vitamin D measurement1155314795155314796Human
407279385GWAS928361_Hbody height QTL GWAS928361 (human)6e-55body height (VT:0001253)body height (CMO:0000106)1155309691155309692Human

Markers in Region
SHGC-2651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,290,283 - 155,290,453UniSTSGRCh37
Build 361153,556,907 - 153,557,077RGDNCBI36
Celera1128,363,425 - 128,363,595RGD
Cytogenetic Map1q21-q22UniSTS
Cytogenetic Map1q22UniSTS
HuRef1126,652,585 - 126,652,755UniSTS
RH68206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,290,292 - 155,290,447UniSTSGRCh37
Build 361153,556,916 - 153,557,071RGDNCBI36
Celera1128,363,434 - 128,363,589RGD
Cytogenetic Map1q21-q22UniSTS
Cytogenetic Map1q22UniSTS
HuRef1126,652,594 - 126,652,749UniSTS
RH68240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,284,745 - 155,284,917UniSTSGRCh37
Build 361153,551,369 - 153,551,541RGDNCBI36
Celera1128,357,887 - 128,358,059RGD
Cytogenetic Map1q22UniSTS
HuRef1126,647,046 - 126,647,218UniSTS
GeneMap99-GB4 RH Map1538.83UniSTS
NCBI RH Map11139.6UniSTS
D15S1171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,290,213 - 155,290,392UniSTSGRCh37
Build 361153,556,837 - 153,557,016RGDNCBI36
Celera1128,363,355 - 128,363,534RGD
Cytogenetic Map1q21-q22UniSTS
Cytogenetic Map1q22UniSTS
HuRef1126,652,515 - 126,652,694UniSTS
GeneMap99-G3 RH Map15958.0UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
D15S513  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q22UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_045218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK021828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE047993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP370037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD675633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN346026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D14697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA610405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J05262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M29863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000356657   ⟹   ENSP00000349078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,308,916 - 155,320,665 (+)Ensembl
Ensembl Acc Id: ENST00000368356   ⟹   ENSP00000357340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,308,866 - 155,320,665 (+)Ensembl
Ensembl Acc Id: ENST00000447866   ⟹   ENSP00000391755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,308,794 - 155,320,609 (+)Ensembl
Ensembl Acc Id: ENST00000461507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,308,803 - 155,318,663 (+)Ensembl
Ensembl Acc Id: ENST00000465559   ⟹   ENSP00000484099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,308,959 - 155,317,982 (+)Ensembl
Ensembl Acc Id: ENST00000467076   ⟹   ENSP00000480142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,308,889 - 155,320,647 (+)Ensembl
Ensembl Acc Id: ENST00000468479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,308,755 - 155,319,688 (+)Ensembl
Ensembl Acc Id: ENST00000470171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,308,968 - 155,318,814 (+)Ensembl
Ensembl Acc Id: ENST00000471117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,308,863 - 155,318,473 (+)Ensembl
Ensembl Acc Id: ENST00000474345   ⟹   ENSP00000478032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,308,854 - 155,318,287 (+)Ensembl
Ensembl Acc Id: ENST00000477057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,308,985 - 155,318,928 (+)Ensembl
Ensembl Acc Id: ENST00000487002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,308,914 - 155,312,979 (+)Ensembl
Ensembl Acc Id: ENST00000489003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,308,984 - 155,318,687 (+)Ensembl
Ensembl Acc Id: ENST00000489324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,319,655 - 155,320,609 (+)Ensembl
Ensembl Acc Id: ENST00000490140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,318,719 - 155,320,665 (+)Ensembl
Ensembl Acc Id: ENST00000491013   ⟹   ENSP00000479557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,308,914 - 155,318,905 (+)Ensembl
Ensembl Acc Id: ENST00000492244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,318,188 - 155,320,665 (+)Ensembl
Ensembl Acc Id: ENST00000492887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,318,175 - 155,319,885 (+)Ensembl
Ensembl Acc Id: ENST00000495308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,308,893 - 155,318,518 (+)Ensembl
Ensembl Acc Id: ENST00000611010   ⟹   ENSP00000483188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,308,748 - 155,320,666 (+)Ensembl
Ensembl Acc Id: ENST00000612683   ⟹   ENSP00000478235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1155,308,970 - 155,320,637 (+)Ensembl
RefSeq Acc Id: NM_001135821   ⟹   NP_001129293
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,308,866 - 155,320,665 (+)NCBI
GRCh371155,278,539 - 155,290,457 (+)ENTREZGENE
HuRef1126,640,838 - 126,652,759 (+)ENTREZGENE
CHM1_11156,674,142 - 156,685,898 (+)NCBI
T2T-CHM13v2.01154,447,406 - 154,459,205 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001135822   ⟹   NP_001129294
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,308,866 - 155,320,665 (+)NCBI
GRCh371155,278,539 - 155,290,457 (+)ENTREZGENE
HuRef1126,640,838 - 126,652,759 (+)ENTREZGENE
CHM1_11156,673,976 - 156,685,898 (+)NCBI
T2T-CHM13v2.01154,447,406 - 154,459,205 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242824   ⟹   NP_001229753
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,308,866 - 155,320,665 (+)NCBI
GRCh371155,278,539 - 155,290,457 (+)ENTREZGENE
HuRef1126,640,838 - 126,652,759 (+)ENTREZGENE
CHM1_11156,673,976 - 156,685,898 (+)NCBI
T2T-CHM13v2.01154,447,406 - 154,459,205 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242825   ⟹   NP_001229754
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,308,866 - 155,320,665 (+)NCBI
GRCh371155,278,539 - 155,290,457 (+)ENTREZGENE
HuRef1126,640,838 - 126,652,759 (+)ENTREZGENE
CHM1_11156,673,976 - 156,685,898 (+)NCBI
T2T-CHM13v2.01154,447,406 - 154,459,205 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378424   ⟹   NP_001365353
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,308,866 - 155,320,665 (+)NCBI
T2T-CHM13v2.01154,447,406 - 154,459,205 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378425   ⟹   NP_001365354
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,308,866 - 155,320,665 (+)NCBI
T2T-CHM13v2.01154,447,406 - 154,459,205 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002004   ⟹   NP_001995
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,308,866 - 155,320,665 (+)NCBI
GRCh371155,278,539 - 155,290,457 (+)ENTREZGENE
Build 361153,545,374 - 153,557,080 (+)NCBI Archive
HuRef1126,640,838 - 126,652,759 (+)ENTREZGENE
CHM1_11156,673,976 - 156,685,898 (+)NCBI
T2T-CHM13v2.01154,447,406 - 154,459,205 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001995   ⟸   NM_002004
- Peptide Label: isoform a
- UniProtKB: E9PCI9 (UniProtKB/Swiss-Prot),   D3DV91 (UniProtKB/Swiss-Prot),   Q96G29 (UniProtKB/Swiss-Prot),   P14324 (UniProtKB/Swiss-Prot),   Q14329 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229753   ⟸   NM_001242824
- Peptide Label: isoform b
- UniProtKB: Q14329 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129294   ⟸   NM_001135822
- Peptide Label: isoform b
- UniProtKB: Q14329 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229754   ⟸   NM_001242825
- Peptide Label: isoform c
- UniProtKB: A0A087X090 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129293   ⟸   NM_001135821
- Peptide Label: isoform a
- UniProtKB: E9PCI9 (UniProtKB/Swiss-Prot),   D3DV91 (UniProtKB/Swiss-Prot),   Q96G29 (UniProtKB/Swiss-Prot),   P14324 (UniProtKB/Swiss-Prot),   Q14329 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001365354   ⟸   NM_001378425
- Peptide Label: isoform b
- UniProtKB: Q14329 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365353   ⟸   NM_001378424
- Peptide Label: isoform b
- UniProtKB: Q14329 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000484099   ⟸   ENST00000465559
Ensembl Acc Id: ENSP00000479557   ⟸   ENST00000491013
Ensembl Acc Id: ENSP00000480142   ⟸   ENST00000467076
Ensembl Acc Id: ENSP00000483188   ⟸   ENST00000611010
Ensembl Acc Id: ENSP00000478235   ⟸   ENST00000612683
Ensembl Acc Id: ENSP00000357340   ⟸   ENST00000368356
Ensembl Acc Id: ENSP00000391755   ⟸   ENST00000447866
Ensembl Acc Id: ENSP00000349078   ⟸   ENST00000356657
Ensembl Acc Id: ENSP00000478032   ⟸   ENST00000474345

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P14324-F1-model_v2 AlphaFold P14324 1-419 view protein structure

Promoters
RGD ID:6785579
Promoter ID:HG_KWN:5389
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:NM_001135821,   NM_001135822,   NM_002004,   OTTHUMT00000039055,   OTTHUMT00000039056,   OTTHUMT00000039057,   OTTHUMT00000039058,   OTTHUMT00000039059,   OTTHUMT00000039060,   OTTHUMT00000039061,   OTTHUMT00000039062,   OTTHUMT00000039063,   OTTHUMT00000039064,   OTTHUMT00000039065,   OTTHUMT00000039066,   UC001FKF.1,   UC001FKG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361153,544,986 - 153,545,877 (+)MPROMDB
RGD ID:6785577
Promoter ID:HG_KWN:5391
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000039067,   OTTHUMT00000039068,   OTTHUMT00000039069
Position:
Human AssemblyChrPosition (strand)Source
Build 361153,554,031 - 153,555,312 (+)MPROMDB
RGD ID:6785578
Promoter ID:HG_KWN:5392
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000039070
Position:
Human AssemblyChrPosition (strand)Source
Build 361153,555,586 - 153,556,292 (+)MPROMDB
RGD ID:6857478
Promoter ID:EPDNEW_H1904
Type:multiple initiation site
Name:FDPS_2
Description:farnesyl diphosphate synthase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1905  EPDNEW_H1906  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,304,811 - 155,304,871EPDNEW
RGD ID:6857480
Promoter ID:EPDNEW_H1905
Type:initiation region
Name:FDPS_1
Description:farnesyl diphosphate synthase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1904  EPDNEW_H1906  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,308,873 - 155,308,933EPDNEW
RGD ID:6857482
Promoter ID:EPDNEW_H1906
Type:initiation region
Name:FDPS_3
Description:farnesyl diphosphate synthase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1904  EPDNEW_H1905  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,309,730 - 155,309,790EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3631 AgrOrtholog
COSMIC FDPS COSMIC
Ensembl Genes ENSG00000160752 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000356657 ENTREZGENE
  ENST00000356657.10 UniProtKB/Swiss-Prot
  ENST00000368356 ENTREZGENE
  ENST00000368356.9 UniProtKB/Swiss-Prot
  ENST00000447866 ENTREZGENE
  ENST00000447866.5 UniProtKB/Swiss-Prot
  ENST00000465559.5 UniProtKB/TrEMBL
  ENST00000467076 ENTREZGENE
  ENST00000467076.5 UniProtKB/Swiss-Prot
  ENST00000474345.5 UniProtKB/TrEMBL
  ENST00000491013.5 UniProtKB/TrEMBL
  ENST00000611010 ENTREZGENE
  ENST00000611010.4 UniProtKB/TrEMBL
  ENST00000612683 ENTREZGENE
  ENST00000612683.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.600.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000160752 GTEx
HGNC ID HGNC:3631 ENTREZGENE
Human Proteome Map FDPS Human Proteome Map
InterPro FPS1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Isoprenoid_synthase_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Polyprenyl_synt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Polyprenyl_synt_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2224 UniProtKB/Swiss-Prot
NCBI Gene 2224 ENTREZGENE
OMIM 134629 OMIM
PANTHER FARNESYL PYROPHOSPHATE SYNTHASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FARNESYL-PYROPHOSPHATE SYNTHETASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam polyprenyl_synt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB FDPS RGD, PharmGKB
PROSITE POLYPRENYL_SYNTHASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POLYPRENYL_SYNTHASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48576 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WTP2_HUMAN UniProtKB/TrEMBL
  A0A087WVN4_HUMAN UniProtKB/TrEMBL
  A0A087X090 ENTREZGENE, UniProtKB/TrEMBL
  A0A087X1D8_HUMAN UniProtKB/TrEMBL
  D3DV91 ENTREZGENE
  E9PCI9 ENTREZGENE
  FPPS_HUMAN UniProtKB/Swiss-Prot
  L8EC92_HUMAN UniProtKB/TrEMBL
  P14324 ENTREZGENE
  Q14329 ENTREZGENE, UniProtKB/TrEMBL
  Q96G29 ENTREZGENE
UniProt Secondary D3DV91 UniProtKB/Swiss-Prot
  E9PCI9 UniProtKB/Swiss-Prot
  Q96G29 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 FDPS  farnesyl diphosphate synthase  FDPS  farnesyl diphosphate synthase (farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase)  Symbol and/or name change 5135510 APPROVED