SP1 (Sp1 transcription factor) - Rat Genome Database

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Gene: SP1 (Sp1 transcription factor) Homo sapiens
Analyze
Symbol: SP1
Name: Sp1 transcription factor
RGD ID: 732035
HGNC Page HGNC:11205
Description: Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; histone deacetylase binding activity; and protein homodimerization activity. Involved in several processes, including positive regulation of biosynthetic process; positive regulation of blood vessel endothelial cell migration; and positive regulation of vascular endothelial cell proliferation. Acts upstream of or within positive regulation of DNA-templated transcription. Located in chromatin and nucleoplasm. Part of transcription repressor complex. Is active in euchromatin.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: specificity protein 1; transcription factor Sp1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381253,380,176 - 53,416,446 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1253,380,176 - 53,416,446 (+)EnsemblGRCh38hg38GRCh38
GRCh371253,773,960 - 53,810,230 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361252,060,246 - 52,096,497 (+)NCBINCBI36Build 36hg18NCBI36
Build 341252,060,245 - 52,096,491NCBI
Celera1253,423,138 - 53,460,427 (+)NCBICelera
Cytogenetic Map12q13.13NCBI
HuRef1250,814,656 - 50,850,614 (+)NCBIHuRef
CHM1_11253,741,140 - 53,777,425 (+)NCBICHM1_1
T2T-CHM13v2.01253,346,223 - 53,382,489 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(-)-demecolcine  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(20S)-ginsenoside Rg3  (EXP)
(R)-lipoic acid  (ISO)
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-chloroethanol  (ISO)
2-tert-butylhydroquinone  (EXP)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP,ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nonylphenol  (ISO)
4-tert-Octylphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-azacytidine  (EXP,ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (EXP,ISO)
acetaldehyde  (EXP)
AH23848  (EXP)
aldehydo-D-glucose  (EXP,ISO)
alendronic acid  (EXP)
all-trans-retinoic acid  (EXP,ISO)
allethrin  (EXP)
alpha-D-galactose  (ISO)
alpha-naphthoflavone  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP,ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP)
artesunate  (EXP)
asbestos  (EXP)
asiatic acid  (ISO)
astaxanthin  (ISO)
bathocuproine disulfonic acid  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[ghi]perylene  (EXP)
biotin  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
butan-1-ol  (EXP)
Butylbenzyl phthalate  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
Calcimycin  (EXP)
camptothecin  (EXP)
capsaicin  (EXP)
carbon nanotube  (ISO)
carnosine  (ISO)
chloroprene  (ISO)
chloroquine  (EXP)
chlorpyrifos  (EXP,ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP,ISO)
clofarabine  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cordycepin  (EXP,ISO)
coumarin  (EXP)
crocidolite asbestos  (EXP)
CU-O LINKAGE  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP)
cypermethrin  (ISO)
D-glucose  (EXP,ISO)
D-penicillamine  (EXP)
daunorubicin  (EXP)
decabromodiphenyl ether  (ISO)
deoxynivalenol  (EXP)
desferrioxamine B  (EXP)
Diallyltetrasulfane  (ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (EXP,ISO)
dieldrin  (EXP)
diethylstilbestrol  (ISO)
dimethyl sulfoxide  (EXP)
dioxygen  (EXP,ISO)
disodium selenite  (EXP,ISO)
doxorubicin  (EXP)
elemental selenium  (EXP,ISO)
enzyme inhibitor  (EXP)
epoxomicin  (EXP)
esculetin  (EXP)
estrogen  (ISO)
ethanol  (EXP,ISO)
etoposide  (EXP,ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
FR900359  (EXP)
fulvestrant  (EXP)
galactose  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glucose  (EXP,ISO)
glutathione  (EXP)
glycitein  (EXP)
glyphosate  (EXP)
homocysteic acid  (EXP)
hydrogen peroxide  (EXP,ISO)
hydroquinone  (EXP)
indole-3-methanol  (EXP)
irinotecan  (EXP)
iron atom  (EXP)
iron(0)  (EXP)
isoprenaline  (ISO)
jaceosidin  (EXP)
ketoconazole  (ISO)
L-ascorbic acid  (EXP)
L-methionine  (ISO)
lead diacetate  (EXP,ISO)
lead(0)  (EXP,ISO)
lead(II) chloride  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
LY294002  (EXP,ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
mercury dichloride  (ISO)
metformin  (EXP)
methapyrilene  (ISO)
methimazole  (ISO)
methylmercury chloride  (EXP,ISO)
methylparaben  (EXP)
methylseleninic acid  (EXP)
mibolerone  (EXP)
microcystin-LR  (EXP,ISO)
mithramycin  (EXP,ISO)
monosodium L-glutamate  (ISO)
morin  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
N-butyl-N-(4-hydroxybutyl)nitrosamine  (ISO)
N-ethylmaleimide  (EXP,ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
neocuproine  (EXP)
nickel atom  (EXP)
nickel dichloride  (EXP)
nicotine  (EXP)
nimustine  (EXP)
NORCANTHARIDIN  (ISO)
olomoucine  (EXP)
oxaliplatin  (EXP)
ozone  (EXP)
p-tert-Amylphenol  (ISO)
palbociclib  (EXP)
paracetamol  (ISO)
PD 168393  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylephrine  (ISO)
PhIP  (EXP)
phorbol 13-acetate 12-myristate  (EXP,ISO)
platycodin D  (EXP)
promegestone  (EXP)
propiconazole  (ISO)
protein kinase inhibitor  (EXP)
pterostilbene  (EXP)
quercetin  (EXP,ISO)
quercetin 3-O-beta-D-galactopyranoside  (EXP)
quinacrine  (EXP)
resveratrol  (EXP,ISO)
S-adenosyl-L-homocysteine  (ISO)
S-adenosyl-L-methioninate  (EXP,ISO)
S-adenosyl-L-methionine  (EXP,ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP)
S-nitrosoglutathione  (EXP)
SB 203580  (EXP)
SCH772984  (ISO)
selenium atom  (EXP,ISO)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
silver(1+) nitrate  (EXP)
simvastatin  (EXP)
sodium arsenite  (EXP,ISO)
sodium chloride  (ISO)
sodium dichromate  (EXP)
T-2 toxin  (EXP)
tamoxifen  (EXP,ISO)
temozolomide  (EXP)
terameprocol  (EXP)
tetrachloroethene  (ISO)
tetrathiomolybdate(2-)  (EXP)
thalidomide  (EXP)
thapsigargin  (ISO)
Theaflavin 3,3'-digallate  (EXP)
Tiron  (ISO)
titanium dioxide  (ISO)
tolfenamic acid  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
troglitazone  (EXP,ISO)
tunicamycin  (ISO)
tyrphostin AG 1478  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
venetoclax  (EXP)
vincristine  (EXP)
vorinostat  (EXP)
wortmannin  (EXP,ISO)
zinc acetate  (EXP)
zinc atom  (EXP,ISO)
zinc dichloride  (EXP,ISO)
zinc sulfate  (EXP)
zinc(0)  (EXP,ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
chromatin  (IDA,IEA,ISA)
cytoplasm  (IEA)
euchromatin  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IC,IDA,IEA)
protein-DNA complex  (IEA,ISO,ISS)
transcription repressor complex  (IDA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Estrogen-induced activation of hypoxia-inducible factor-1alpha, vascular endothelial growth factor expression, and edema in the uterus are mediated by the phosphatidylinositol 3-kinase/Akt pathway. Kazi AA and Koos RD, Endocrinology. 2007 May;148(5):2363-74. doi: 10.1210/en.2006-1394. Epub 2007 Feb 1.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Angiotensin II-inducible platelet-derived growth factor-D transcription requires specific Ser/Thr residues in the second zinc finger region of Sp1. Tan NY, etal., Circ Res. 2008 Feb 29;102(4):e38-51. doi: 10.1161/CIRCRESAHA.107.167395. Epub 2008 Feb 7.
Additional References at PubMed
PMID:1583736   PMID:1662663   PMID:1912570   PMID:1924310   PMID:2512012   PMID:2657100   PMID:2833704   PMID:3139301   PMID:3319186   PMID:7541039   PMID:7559627   PMID:7565695  
PMID:7592727   PMID:7621073   PMID:7622044   PMID:7666561   PMID:7690421   PMID:7732011   PMID:7824954   PMID:7933095   PMID:8207805   PMID:8230415   PMID:8244404   PMID:8327494  
PMID:8404040   PMID:8411386   PMID:8422676   PMID:8463313   PMID:8551580   PMID:8626793   PMID:8628270   PMID:8657141   PMID:8657142   PMID:8668525   PMID:8800208   PMID:8845379  
PMID:8849451   PMID:9065444   PMID:9121429   PMID:9153193   PMID:9271438   PMID:9278494   PMID:9328340   PMID:9329821   PMID:9343410   PMID:9353275   PMID:9372921   PMID:9388268  
PMID:9407313   PMID:9466902   PMID:9472608   PMID:9492043   PMID:9525578   PMID:9525610   PMID:9535906   PMID:9566873   PMID:9611253   PMID:9651398   PMID:9685344   PMID:9694791  
PMID:9742090   PMID:9748305   PMID:9819401   PMID:9882443   PMID:9885563   PMID:9915847   PMID:10082523   PMID:10089212   PMID:10103059   PMID:10215616   PMID:10224053   PMID:10235267  
PMID:10361124   PMID:10362258   PMID:10391891   PMID:10393239   PMID:10393859   PMID:10409740   PMID:10446910   PMID:10457364   PMID:10471301   PMID:10506225   PMID:10547281   PMID:10617653  
PMID:10644332   PMID:10644726   PMID:10651903   PMID:10681512   PMID:10704334   PMID:10720440   PMID:10747986   PMID:10809237   PMID:10816420   PMID:10816575   PMID:10825178   PMID:10850422  
PMID:10878024   PMID:10899165   PMID:10919277   PMID:10973950   PMID:10976766   PMID:10987820   PMID:11018012   PMID:11022037   PMID:11030335   PMID:11114293   PMID:11158299   PMID:11237594  
PMID:11237613   PMID:11274368   PMID:11294852   PMID:11384995   PMID:11432852   PMID:11517158   PMID:11585914   PMID:11598016   PMID:11796707   PMID:11839742   PMID:11839795   PMID:11842244  
PMID:11844788   PMID:11850421   PMID:11853549   PMID:11856466   PMID:11867623   PMID:11884455   PMID:11896613   PMID:11904305   PMID:11909966   PMID:11914583   PMID:11988536   PMID:11997063  
PMID:12004059   PMID:12021324   PMID:12034813   PMID:12050359   PMID:12052832   PMID:12054741   PMID:12055073   PMID:12077144   PMID:12088866   PMID:12091390   PMID:12105191   PMID:12133007  
PMID:12134007   PMID:12151347   PMID:12151407   PMID:12169688   PMID:12176973   PMID:12186868   PMID:12192045   PMID:12200149   PMID:12213324   PMID:12221105   PMID:12228234   PMID:12228247  
PMID:12239153   PMID:12297462   PMID:12324467   PMID:12358602   PMID:12359731   PMID:12378384   PMID:12379120   PMID:12384434   PMID:12414801   PMID:12421830   PMID:12427542   PMID:12433697  
PMID:12439750   PMID:12458222   PMID:12466967   PMID:12475396   PMID:12477932   PMID:12485937   PMID:12498690   PMID:12509426   PMID:12513689   PMID:12560236   PMID:12560508   PMID:12569082  
PMID:12576329   PMID:12612060   PMID:12615703   PMID:12624107   PMID:12634356   PMID:12642036   PMID:12664565   PMID:12665570   PMID:12665574   PMID:12665582   PMID:12670868   PMID:12682078  
PMID:12694199   PMID:12706836   PMID:12730302   PMID:12732645   PMID:12748179   PMID:12753906   PMID:12769819   PMID:12771217   PMID:12804776   PMID:12811817   PMID:12818425   PMID:12847090  
PMID:12847250   PMID:12855685   PMID:12855699   PMID:12888575   PMID:12911579   PMID:12933821   PMID:12943729   PMID:12954631   PMID:12972613   PMID:13680213   PMID:14514691   PMID:14532290  
PMID:14561739   PMID:14568562   PMID:14580349   PMID:14608051   PMID:14623863   PMID:14645238   PMID:14652633   PMID:14657503   PMID:14660675   PMID:14670973   PMID:14676314   PMID:14701757  
PMID:14710355   PMID:14742449   PMID:14744793   PMID:14744869   PMID:14766015   PMID:14970236   PMID:14977835   PMID:14979875   PMID:14988427   PMID:15001984   PMID:15019994   PMID:15024015  
PMID:15033443   PMID:15064717   PMID:15084343   PMID:15087465   PMID:15094066   PMID:15100293   PMID:15109260   PMID:15111490   PMID:15117948   PMID:15118068   PMID:15142377   PMID:15155736  
PMID:15180327   PMID:15182185   PMID:15194684   PMID:15217947   PMID:15247906   PMID:15282343   PMID:15302882   PMID:15302935   PMID:15317818   PMID:15339794   PMID:15342781   PMID:15345676  
PMID:15353294   PMID:15367601   PMID:15462673   PMID:15466008   PMID:15466927   PMID:15468069   PMID:15489334   PMID:15523672   PMID:15528196   PMID:15528990   PMID:15531587   PMID:15550242  
PMID:15557281   PMID:15563462   PMID:15574328   PMID:15619633   PMID:15637147   PMID:15647279   PMID:15650166   PMID:15651981   PMID:15661808   PMID:15665278   PMID:15666829   PMID:15674334  
PMID:15691849   PMID:15694838   PMID:15705965   PMID:15706661   PMID:15709764   PMID:15710382   PMID:15713621   PMID:15722551   PMID:15725353   PMID:15735752   PMID:15760895   PMID:15777284  
PMID:15780936   PMID:15781457   PMID:15788387   PMID:15790310   PMID:15816870   PMID:15821099   PMID:15828018   PMID:15831516   PMID:15837427   PMID:15838506   PMID:15850836   PMID:15863387  
PMID:15869407   PMID:15878880   PMID:15905415   PMID:15907486   PMID:15908479   PMID:15951564   PMID:15955096   PMID:15970595   PMID:15979574   PMID:15987735   PMID:15998736   PMID:16036112  
PMID:16050810   PMID:16061936   PMID:16118214   PMID:16120388   PMID:16121030   PMID:16158248   PMID:16201967   PMID:16245312   PMID:16248979   PMID:16260418   PMID:16260592   PMID:16288017  
PMID:16298343   PMID:16304843   PMID:16314315   PMID:16339759   PMID:16361535   PMID:16377629   PMID:16378688   PMID:16410262   PMID:16413224   PMID:16439465   PMID:16442295   PMID:16478997  
PMID:16516150   PMID:16529657   PMID:16565233   PMID:16575904   PMID:16582099   PMID:16603733   PMID:16624878   PMID:16631833   PMID:16651265   PMID:16671893   PMID:16672217   PMID:16675542  
PMID:16677608   PMID:16690926   PMID:16691198   PMID:16714330   PMID:16714763   PMID:16715126   PMID:16728402   PMID:16734381   PMID:16740634   PMID:16760259   PMID:16806531   PMID:16807373  
PMID:16807381   PMID:16815888   PMID:16818630   PMID:16879824   PMID:16883603   PMID:16931573   PMID:16943418   PMID:16964243   PMID:16964286   PMID:16965966   PMID:17014845   PMID:17024177  
PMID:17026958   PMID:17046201   PMID:17075044   PMID:17124180   PMID:17150965   PMID:17161377   PMID:17192956   PMID:17202341   PMID:17215518   PMID:17224162   PMID:17225865   PMID:17260018  
PMID:17264126   PMID:17272513   PMID:17287525   PMID:17289023   PMID:17297470   PMID:17307335   PMID:17312152   PMID:17321722   PMID:17343736   PMID:17344216   PMID:17373631   PMID:17384146  
PMID:17418410   PMID:17471507   PMID:17474147   PMID:17486080   PMID:17530395   PMID:17540780   PMID:17556661   PMID:17597815   PMID:17600309   PMID:17609267   PMID:17616668   PMID:17623675  
PMID:17652716   PMID:17656364   PMID:17656465   PMID:17661632   PMID:17670825   PMID:17681019   PMID:17689681   PMID:17698844   PMID:17705132   PMID:17717078   PMID:17719138   PMID:17766039  
PMID:17786189   PMID:17804646   PMID:17827154   PMID:17851584   PMID:17855482   PMID:17885207   PMID:17889508   PMID:17890878   PMID:17893646   PMID:17894944   PMID:17906119   PMID:17906698  
PMID:17916230   PMID:17920708   PMID:17927842   PMID:17927860   PMID:17938207   PMID:17958743   PMID:17961220   PMID:17965828   PMID:17984071   PMID:17990281   PMID:18003922   PMID:18029348  
PMID:18031462   PMID:18034423   PMID:18053794   PMID:18059533   PMID:18064606   PMID:18065760   PMID:18068676   PMID:18078517   PMID:18083845   PMID:18165235   PMID:18171990   PMID:18173747  
PMID:18192274   PMID:18195733   PMID:18199680   PMID:18202149   PMID:18215124   PMID:18226133   PMID:18243132   PMID:18249093   PMID:18261712   PMID:18270252   PMID:18281035   PMID:18293083  
PMID:18298657   PMID:18310298   PMID:18314536   PMID:18328811   PMID:18329191   PMID:18338249   PMID:18343609   PMID:18348986   PMID:18353772   PMID:18365874   PMID:18368381   PMID:18372343  
PMID:18378679   PMID:18384375   PMID:18391986   PMID:18396147   PMID:18419748   PMID:18423053   PMID:18449948   PMID:18483225   PMID:18509005   PMID:18519037   PMID:18522535   PMID:18524846  
PMID:18525291   PMID:18543253   PMID:18555711   PMID:18556457   PMID:18572193   PMID:18579560   PMID:18588874   PMID:18593936   PMID:18593937   PMID:18604866   PMID:18619531   PMID:18632985  
PMID:18640248   PMID:18653454   PMID:18654640   PMID:18655767   PMID:18660489   PMID:18673381   PMID:18701434   PMID:18706393   PMID:18714402   PMID:18725933   PMID:18765668   PMID:18769160  
PMID:18772363   PMID:18775869   PMID:18786141   PMID:18790604   PMID:18801742   PMID:18809386   PMID:18811981   PMID:18812468   PMID:18843277   PMID:18850004   PMID:18852899   PMID:18930904  
PMID:18948152   PMID:18990686   PMID:18996451   PMID:19049975   PMID:19062177   PMID:19064501   PMID:19064990   PMID:19070619   PMID:19074833   PMID:19105596   PMID:19106100   PMID:19111069  
PMID:19112177   PMID:19115249   PMID:19115260   PMID:19116449   PMID:19118563   PMID:19120021   PMID:19124744   PMID:19131339   PMID:19132086   PMID:19138671   PMID:19141126   PMID:19147754  
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PMID:20371611   PMID:20372080   PMID:20381594   PMID:20383178   PMID:20384626   PMID:20385359   PMID:20385708   PMID:20506264   PMID:20508969   PMID:20515446   PMID:20518744   PMID:20528922  
PMID:20538607   PMID:20570896   PMID:20591193   PMID:20599619   PMID:20629990   PMID:20697349   PMID:20699577   PMID:20716579   PMID:20807505   PMID:20819778   PMID:20851106   PMID:20861353  
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PMID:21097497   PMID:21123453   PMID:21130740   PMID:21159880   PMID:21167276   PMID:21184768   PMID:21184844   PMID:21193408   PMID:21208652   PMID:21242964   PMID:21246532   PMID:21248046  
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PMID:21412054   PMID:21465530   PMID:21469139   PMID:21518763   PMID:21528154   PMID:21554857   PMID:21555589   PMID:21604172   PMID:21611785   PMID:21636851   PMID:21659522   PMID:21683812  
PMID:21684359   PMID:21731707   PMID:21753780   PMID:21761199   PMID:21795679   PMID:21798247   PMID:21822301   PMID:21831840   PMID:21837748   PMID:21872883   PMID:21873635   PMID:21919647  
PMID:21922223   PMID:21925952   PMID:21928351   PMID:21948504   PMID:21983342   PMID:22001409   PMID:22023388   PMID:22028617   PMID:22030357   PMID:22033265   PMID:22034194   PMID:22036763  
PMID:22049076   PMID:22065068   PMID:22086197   PMID:22099172   PMID:22105759   PMID:22113199   PMID:22125028   PMID:22139845   PMID:22169644   PMID:22182699   PMID:22190856   PMID:22211660  
PMID:22213398   PMID:22227038   PMID:22227581   PMID:22229121   PMID:22266860   PMID:22282354   PMID:22291595   PMID:22297492   PMID:22307793   PMID:22315456   PMID:22342309   PMID:22354938  
PMID:22360859   PMID:22378045   PMID:22382027   PMID:22383952   PMID:22399227   PMID:22402494   PMID:22412893   PMID:22415975   PMID:22419072   PMID:22420942   PMID:22427654   PMID:22431021  
PMID:22455954   PMID:22464952   PMID:22465120   PMID:22496486   PMID:22500101   PMID:22534375   PMID:22564704   PMID:22580340   PMID:22615874   PMID:22658674   PMID:22682030   PMID:22700966  
PMID:22711357   PMID:22718198   PMID:22718761   PMID:22821729   PMID:22826432   PMID:22855260   PMID:22945648   PMID:22956772   PMID:22984509   PMID:22992725   PMID:23013401   PMID:23028678  
PMID:23047008   PMID:23104175   PMID:23131565   PMID:23133566   PMID:23133636   PMID:23137637   PMID:23158992   PMID:23159876   PMID:23160072   PMID:23168245   PMID:23176121   PMID:23184467  
PMID:23190608   PMID:23209644   PMID:23246486   PMID:23250796   PMID:23291272   PMID:23300749   PMID:23329847   PMID:23333597   PMID:23369005   PMID:23435408   PMID:23437057   PMID:23437203  
PMID:23464785   PMID:23516108   PMID:23518577   PMID:23523134   PMID:23525508   PMID:23529765   PMID:23537647   PMID:23540600   PMID:23593449   PMID:23601184   PMID:23635401   PMID:23650532  
PMID:23670210   PMID:23704280   PMID:23714681   PMID:23733894   PMID:23756706   PMID:23762317   PMID:23765166   PMID:23802567   PMID:23825960   PMID:23860323   PMID:23873932   PMID:23877235  
PMID:23877322   PMID:23877711   PMID:23918807   PMID:23925045   PMID:23940615   PMID:23941741   PMID:23959823   PMID:23986795   PMID:23996530   PMID:24018208   PMID:24026251   PMID:24089524  
PMID:24129563   PMID:24130502   PMID:24163379   PMID:24169559   PMID:24244514   PMID:24315822   PMID:24382322   PMID:24396070   PMID:24423061   PMID:24445528   PMID:24489103   PMID:24510775  
PMID:24519909   PMID:24530422   PMID:24530506   PMID:24552705   PMID:24585635   PMID:24622324   PMID:24627491   PMID:24647869   PMID:24680773   PMID:24681424   PMID:24710631   PMID:24728382  
PMID:24735796   PMID:24742347   PMID:24755270   PMID:24778176   PMID:24788380   PMID:24793594   PMID:24798214   PMID:24821721   PMID:24825907   PMID:24872081   PMID:24906090   PMID:24906624  
PMID:24951112   PMID:24959930   PMID:24962522   PMID:24971482   PMID:25012245   PMID:25029911   PMID:25044704   PMID:25051367   PMID:25099028   PMID:25127200   PMID:25138157   PMID:25183267  
PMID:25187517   PMID:25193278   PMID:25284287   PMID:25294805   PMID:25355892   PMID:25363021   PMID:25388990   PMID:25393971   PMID:25398907   PMID:25428991   PMID:25437307   PMID:25476526  
PMID:25483064   PMID:25559917   PMID:25595558   PMID:25609694   PMID:25639535   PMID:25689150   PMID:25728677   PMID:25738304   PMID:25773124   PMID:25790304   PMID:25797200   PMID:25810277  
PMID:25879517   PMID:25885317   PMID:25890196   PMID:25957915   PMID:25982202   PMID:25998266   PMID:26041879   PMID:26043875   PMID:26053095   PMID:26070560   PMID:26096373   PMID:26103469  
PMID:26162987   PMID:26177288   PMID:26247419   PMID:26261581   PMID:26275350   PMID:26281333   PMID:26299656   PMID:26336820   PMID:26341485   PMID:26352011   PMID:26352013   PMID:26370050  
PMID:26393468   PMID:26427350   PMID:26456684   PMID:26459178   PMID:26487723   PMID:26496610   PMID:26499076   PMID:26511642   PMID:26549023   PMID:26631963   PMID:26683615   PMID:26687764  
PMID:26689593   PMID:26744328   PMID:26763486   PMID:26771806   PMID:26807725   PMID:26828265   PMID:26857392   PMID:26885752   PMID:26906205   PMID:26922862   PMID:26923194   PMID:26945968  
PMID:26949251   PMID:26967243   PMID:26981862   PMID:27004687   PMID:27030318   PMID:27057625   PMID:27057636   PMID:27058528   PMID:27099864   PMID:27112839   PMID:27144331   PMID:27156884  
PMID:27164408   PMID:27172866   PMID:27179757   PMID:27212195   PMID:27222350   PMID:27245877   PMID:27268079   PMID:27320013   PMID:27325744   PMID:27384876   PMID:27434865   PMID:27460077  
PMID:27484157   PMID:27500457   PMID:27515574   PMID:27516213   PMID:27545642   PMID:27572271   PMID:27573859   PMID:27581819   PMID:27600876   PMID:27600920   PMID:27625141   PMID:27685621  
PMID:27695039   PMID:27713167   PMID:27723845   PMID:27766531   PMID:27829234   PMID:27878251   PMID:27974696   PMID:28000777   PMID:28028181   PMID:28094252   PMID:28095864   PMID:28099946  
PMID:28104396   PMID:28117748   PMID:28132807   PMID:28152513   PMID:28165192   PMID:28192510   PMID:28208054   PMID:28209205   PMID:28219935   PMID:28233872   PMID:28237576   PMID:28256531  
PMID:28283889   PMID:28322791   PMID:28341181   PMID:28402278   PMID:28422727   PMID:28423585   PMID:28425985   PMID:28427500   PMID:28466020   PMID:28473536   PMID:28473981   PMID:28484232  
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PMID:28759062   PMID:28774282   PMID:28791404   PMID:28813465   PMID:28831131   PMID:28839465   PMID:28846829   PMID:28857320   PMID:28864005   PMID:28883622   PMID:28887525   PMID:28981102  
PMID:29045464   PMID:29046731   PMID:29048687   PMID:29094170   PMID:29135936   PMID:29204947   PMID:29236199   PMID:29244835   PMID:29257212   PMID:29269396   PMID:29273682   PMID:29294106  
PMID:29305977   PMID:29336469   PMID:29423656   PMID:29464457   PMID:29473798   PMID:29512921   PMID:29518549   PMID:29558695   PMID:29565456   PMID:29568061   PMID:29575609   PMID:29614984  
PMID:29642935   PMID:29653560   PMID:29654167   PMID:29655291   PMID:29704436   PMID:29748291   PMID:29804261   PMID:29883713   PMID:29902451   PMID:29917167   PMID:29948615   PMID:30015851  
PMID:30119232   PMID:30181396   PMID:30196744   PMID:30258014   PMID:30273642   PMID:30273966   PMID:30275758   PMID:30392062   PMID:30413111   PMID:30463940   PMID:30485570   PMID:30502345  
PMID:30542210   PMID:30554864   PMID:30561605   PMID:30659947   PMID:30696421   PMID:30734471   PMID:30762338   PMID:30779082   PMID:30804502   PMID:30819403   PMID:30831032   PMID:30884312  
PMID:30886048   PMID:30954507   PMID:30963560   PMID:30976063   PMID:31091453   PMID:31097000   PMID:31101117   PMID:31106421   PMID:31111958   PMID:31121483   PMID:31126819   PMID:31135072  
PMID:31170415   PMID:31175045   PMID:31182584   PMID:31199573   PMID:31209240   PMID:31211445   PMID:31236000   PMID:31252264   PMID:31254619   PMID:31270251   PMID:31276766   PMID:31299490  
PMID:31366497   PMID:31397118   PMID:31478331   PMID:31536933   PMID:31545475   PMID:31566716   PMID:31608997   PMID:31615977   PMID:31624299   PMID:31666587   PMID:31696478   PMID:31706574  
PMID:31707347   PMID:31713587   PMID:31739835   PMID:31742423   PMID:31752873   PMID:31755246   PMID:31783675   PMID:31791587   PMID:31812125   PMID:31876683   PMID:31898343   PMID:31904417  
PMID:31925912   PMID:31945313   PMID:31955176   PMID:31983431   PMID:32050495   PMID:32115405   PMID:32124934   PMID:32128886   PMID:32196572   PMID:32205409   PMID:32236568   PMID:32248969  
PMID:32299271   PMID:32375633   PMID:32420685   PMID:32439864   PMID:32488851   PMID:32576271   PMID:32633372   PMID:32636268   PMID:32641718   PMID:32656717   PMID:32671843   PMID:32694731  
PMID:32714075   PMID:32724456   PMID:32743904   PMID:32777444   PMID:32786267   PMID:32838933   PMID:32851058   PMID:32851429   PMID:32857725   PMID:32902145   PMID:32966555   PMID:32988587  
PMID:33051436   PMID:33053208   PMID:33065279   PMID:33089960   PMID:33092540   PMID:33093451   PMID:33096314   PMID:33103728   PMID:33125142   PMID:33146712   PMID:33276722   PMID:33328578  
PMID:33336764   PMID:33400247   PMID:33431838   PMID:33472586   PMID:33522895   PMID:33566030   PMID:33572115   PMID:33579314   PMID:33615510   PMID:33728585   PMID:33730584   PMID:33751053  
PMID:33771880   PMID:33811301   PMID:33831429   PMID:33895141   PMID:33961781   PMID:34023783   PMID:34077295   PMID:34147913   PMID:34186245   PMID:34197957   PMID:34202606   PMID:34225636  
PMID:34252870   PMID:34281492   PMID:34420031   PMID:34456628   PMID:34499009   PMID:34550526   PMID:34575972   PMID:34601664   PMID:34643249   PMID:34657441   PMID:34727382   PMID:34764224  
PMID:34765294   PMID:34826170   PMID:34830324   PMID:34905435   PMID:34948100   PMID:34973534   PMID:34992508   PMID:35034634   PMID:35044719   PMID:35068337   PMID:35108712   PMID:35124373  
PMID:35140242   PMID:35163245   PMID:35271311   PMID:35420971   PMID:35467245   PMID:35508543   PMID:35563538   PMID:35584569   PMID:35614326   PMID:35771155   PMID:35778451   PMID:35821227  
PMID:35831314   PMID:35866606   PMID:35916925   PMID:35924788   PMID:35944360   PMID:35957833   PMID:36214997   PMID:36215168   PMID:36232701   PMID:36305724   PMID:36476264   PMID:36499676  
PMID:36562687   PMID:36632999   PMID:36759621   PMID:36765477   PMID:36861193   PMID:36899270   PMID:36899378   PMID:36932748   PMID:36938736   PMID:37056066   PMID:37147632   PMID:37166084  
PMID:37236124   PMID:37314216   PMID:37319434   PMID:37445835   PMID:37481646   PMID:37599359   PMID:37657752   PMID:37666229   PMID:37704626   PMID:37742010   PMID:37793472   PMID:37848946  
PMID:37902017   PMID:37909980   PMID:38035702   PMID:38159857   PMID:38279869   PMID:38286742   PMID:38301049   PMID:38334954   PMID:38349188   PMID:38368381   PMID:38375778   PMID:38471646  
PMID:38501385   PMID:38533528   PMID:38540340   PMID:38572579   PMID:38641672   PMID:38810361   PMID:38829410   PMID:38840385   PMID:38857058   PMID:38940327   PMID:39191354   PMID:39199378  
PMID:39419019  


Genomics

Comparative Map Data
SP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381253,380,176 - 53,416,446 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1253,380,176 - 53,416,446 (+)EnsemblGRCh38hg38GRCh38
GRCh371253,773,960 - 53,810,230 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361252,060,246 - 52,096,497 (+)NCBINCBI36Build 36hg18NCBI36
Build 341252,060,245 - 52,096,491NCBI
Celera1253,423,138 - 53,460,427 (+)NCBICelera
Cytogenetic Map12q13.13NCBI
HuRef1250,814,656 - 50,850,614 (+)NCBIHuRef
CHM1_11253,741,140 - 53,777,425 (+)NCBICHM1_1
T2T-CHM13v2.01253,346,223 - 53,382,489 (+)NCBIT2T-CHM13v2.0
Sp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3915102,314,751 - 102,344,839 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl15102,314,578 - 102,344,839 (+)EnsemblGRCm39 Ensembl
GRCm3815102,406,316 - 102,436,404 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl15102,406,143 - 102,436,404 (+)EnsemblGRCm38mm10GRCm38
MGSCv3715102,236,747 - 102,266,835 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3615102,234,362 - 102,260,713 (+)NCBIMGSCv36mm8
Celera15104,563,277 - 104,594,207 (+)NCBICelera
Cytogenetic Map15F3NCBI
cM Map1557.55NCBI
Sp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87135,419,864 - 135,450,513 (+)NCBIGRCr8
mRatBN7.27133,541,302 - 133,571,961 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7133,541,491 - 133,571,961 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7135,298,300 - 135,327,653 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07137,527,694 - 137,557,048 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07137,513,816 - 137,543,172 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07144,014,173 - 144,044,635 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7144,014,173 - 144,044,629 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07141,805,281 - 141,836,504 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47141,164,180 - 141,194,509 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17141,240,616 - 141,265,690 (+)NCBI
Celera7129,968,890 - 129,999,257 (+)NCBICelera
RH 3.4 Map71062.1RGD
Cytogenetic Map7q36NCBI
Sp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955458644,378 - 677,441 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955458644,435 - 677,360 (+)NCBIChiLan1.0ChiLan1.0
SP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21040,770,223 - 40,809,774 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11240,766,986 - 40,806,525 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01235,338,492 - 35,374,462 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11236,122,583 - 36,158,356 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1236,127,681 - 36,158,356 (-)Ensemblpanpan1.1panPan2
SP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1271,802,587 - 1,861,187 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl271,805,184 - 1,847,226 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2744,404,740 - 44,448,820 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0271,804,038 - 1,848,490 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl271,804,038 - 1,848,385 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1271,823,470 - 1,867,184 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0271,807,708 - 1,852,315 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02744,805,663 - 44,849,851 (+)NCBIUU_Cfam_GSD_1.0
Sp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494562,467,059 - 62,509,967 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493651210,655,349 - 10,693,042 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493651210,655,116 - 10,693,025 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl518,588,758 - 18,630,089 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1518,588,763 - 18,633,177 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2519,024,941 - 19,070,820 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11149,484,459 - 49,516,941 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1149,484,518 - 49,512,541 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037196,540,987 - 196,574,325 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249041,475,664 - 1,507,588 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SP1
53 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1 copy number loss See cases [RCV000052811] Chr12:53099658..53724525 [GRCh38]
Chr12:53493442..54118309 [GRCh37]
Chr12:51779709..52404576 [NCBI36]
Chr12:12q13.13
pathogenic
GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1 copy number loss See cases [RCV000052812] Chr12:53224024..54222450 [GRCh38]
Chr12:53617808..54616234 [GRCh37]
Chr12:51904075..52902501 [NCBI36]
Chr12:12q13.13
pathogenic
GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3 copy number gain See cases [RCV000138030] Chr12:52851850..53558824 [GRCh38]
Chr12:53245634..53952608 [GRCh37]
Chr12:51531901..52238875 [NCBI36]
Chr12:12q13.13
likely pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_138473.3(SP1):c.1753G>A (p.Gly585Arg) single nucleotide variant not specified [RCV004307941] Chr12:53406662 [GRCh38]
Chr12:53800446 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.1428C>G (p.Asn476Lys) single nucleotide variant not specified [RCV004294096] Chr12:53383375 [GRCh38]
Chr12:53777159 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.823G>C (p.Ala275Pro) single nucleotide variant not specified [RCV004313663] Chr12:53382770 [GRCh38]
Chr12:53776554 [GRCh37]
Chr12:12q13.13
uncertain significance
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_138473.3(SP1):c.243C>G (p.Ser81=) single nucleotide variant not provided [RCV000881522] Chr12:53382190 [GRCh38]
Chr12:53775974 [GRCh37]
Chr12:12q13.13
benign
NM_138473.3(SP1):c.2355C>T (p.Phe785=) single nucleotide variant not provided [RCV000881918] Chr12:53411237 [GRCh38]
Chr12:53805021 [GRCh37]
Chr12:12q13.13
likely benign
NM_138473.3(SP1):c.1851G>A (p.Ser617=) single nucleotide variant not provided [RCV000925564] Chr12:53409368 [GRCh38]
Chr12:53803152 [GRCh37]
Chr12:12q13.13
likely benign
NM_138473.3(SP1):c.957C>G (p.Ser319=) single nucleotide variant not provided [RCV000921848] Chr12:53382904 [GRCh38]
Chr12:53776688 [GRCh37]
Chr12:12q13.13
likely benign
NM_138473.3(SP1):c.1355G>A (p.Arg452Gln) single nucleotide variant not specified [RCV004293525] Chr12:53383302 [GRCh38]
Chr12:53777086 [GRCh37]
Chr12:12q13.13
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787381] Chr12:53784698..54741363 [GRCh37]
Chr12:12q13.13
pathogenic
NM_138473.3(SP1):c.1126T>A (p.Ser376Thr) single nucleotide variant not specified [RCV004309864] Chr12:53383073 [GRCh38]
Chr12:53776857 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.1587C>A (p.Leu529=) single nucleotide variant not provided [RCV000888154] Chr12:53383534 [GRCh38]
Chr12:53777318 [GRCh37]
Chr12:12q13.13
benign
NM_138473.3(SP1):c.2304C>T (p.Asn768=) single nucleotide variant not provided [RCV000889083] Chr12:53411186 [GRCh38]
Chr12:53804970 [GRCh37]
Chr12:12q13.13
benign
NM_138473.3(SP1):c.8-10A>G single nucleotide variant not provided [RCV000911450] Chr12:53381649 [GRCh38]
Chr12:53775433 [GRCh37]
Chr12:12q13.13
likely benign
GRCh37/hg19 12q13.13(chr12:53614278-53971802)x1 copy number loss not provided [RCV001259613] Chr12:53614278..53971802 [GRCh37]
Chr12:12q13.13
likely pathogenic
GRCh37/hg19 12q13.13(chr12:53372321-53864490)x1 copy number loss not provided [RCV001259614] Chr12:53372321..53864490 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.1459A>G (p.Met487Val) single nucleotide variant not specified [RCV004192874] Chr12:53383406 [GRCh38]
Chr12:53777190 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.1676G>A (p.Gly559Asp) single nucleotide variant not specified [RCV004187156] Chr12:53406585 [GRCh38]
Chr12:53800369 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.361A>G (p.Lys121Glu) single nucleotide variant not specified [RCV004091878] Chr12:53382308 [GRCh38]
Chr12:53776092 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.2282G>A (p.Arg761His) single nucleotide variant not specified [RCV004203068] Chr12:53411164 [GRCh38]
Chr12:53804948 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.977G>C (p.Ser326Thr) single nucleotide variant not specified [RCV004097142] Chr12:53382924 [GRCh38]
Chr12:53776708 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.298C>T (p.Leu100Phe) single nucleotide variant not specified [RCV004221007] Chr12:53382245 [GRCh38]
Chr12:53776029 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.680C>G (p.Ala227Gly) single nucleotide variant not specified [RCV004173503] Chr12:53382627 [GRCh38]
Chr12:53776411 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.2303A>G (p.Asn768Ser) single nucleotide variant not specified [RCV004074872] Chr12:53411185 [GRCh38]
Chr12:53804969 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.968A>G (p.Asn323Ser) single nucleotide variant not specified [RCV004152856] Chr12:53382915 [GRCh38]
Chr12:53776699 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.942A>T (p.Gln314His) single nucleotide variant not specified [RCV004185982] Chr12:53382889 [GRCh38]
Chr12:53776673 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.991A>G (p.Thr331Ala) single nucleotide variant not specified [RCV004251904] Chr12:53382938 [GRCh38]
Chr12:53776722 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.1457C>A (p.Pro486Gln) single nucleotide variant not specified [RCV004277231] Chr12:53383404 [GRCh38]
Chr12:53777188 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.268A>G (p.Thr90Ala) single nucleotide variant not specified [RCV004263346] Chr12:53382215 [GRCh38]
Chr12:53775999 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.893C>G (p.Pro298Arg) single nucleotide variant not specified [RCV004340302] Chr12:53382840 [GRCh38]
Chr12:53776624 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.376A>G (p.Ser126Gly) single nucleotide variant not specified [RCV004361067] Chr12:53382323 [GRCh38]
Chr12:53776107 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.512T>C (p.Ile171Thr) single nucleotide variant not specified [RCV004351670] Chr12:53382459 [GRCh38]
Chr12:53776243 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.625G>C (p.Gly209Arg) single nucleotide variant not specified [RCV004354425] Chr12:53382572 [GRCh38]
Chr12:53776356 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.1166A>G (p.Glu389Gly) single nucleotide variant not specified [RCV004339828] Chr12:53383113 [GRCh38]
Chr12:53776897 [GRCh37]
Chr12:12q13.13
uncertain significance
GRCh37/hg19 12q13.13(chr12:53583828-53922629)x3 copy number gain not provided [RCV003484869] Chr12:53583828..53922629 [GRCh37]
Chr12:12q13.13
uncertain significance
GRCh37/hg19 12q13.13(chr12:53502510-54256094)x3 copy number gain not specified [RCV003986989] Chr12:53502510..54256094 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.1259T>C (p.Leu420Ser) single nucleotide variant not specified [RCV004457677] Chr12:53383206 [GRCh38]
Chr12:53776990 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.1463A>G (p.Gln488Arg) single nucleotide variant not specified [RCV004457678] Chr12:53383410 [GRCh38]
Chr12:53777194 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.1850C>T (p.Ser617Leu) single nucleotide variant not specified [RCV004457679] Chr12:53409367 [GRCh38]
Chr12:53803151 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.269C>T (p.Thr90Ile) single nucleotide variant not specified [RCV004457681] Chr12:53382216 [GRCh38]
Chr12:53776000 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.440A>G (p.Tyr147Cys) single nucleotide variant not specified [RCV004457682] Chr12:53382387 [GRCh38]
Chr12:53776171 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.1067C>T (p.Pro356Leu) single nucleotide variant not specified [RCV004457676] Chr12:53383014 [GRCh38]
Chr12:53776798 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.245A>G (p.Gln82Arg) single nucleotide variant not specified [RCV004457680] Chr12:53382192 [GRCh38]
Chr12:53775976 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.74A>G (p.Asn25Ser) single nucleotide variant not specified [RCV004457683] Chr12:53381725 [GRCh38]
Chr12:53775509 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.144C>G (p.Ser48Arg) single nucleotide variant not specified [RCV004670679] Chr12:53381795 [GRCh38]
Chr12:53775579 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.1688C>G (p.Ala563Gly) single nucleotide variant not specified [RCV004679237] Chr12:53406597 [GRCh38]
Chr12:53800381 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.1063A>G (p.Thr355Ala) single nucleotide variant not specified [RCV004679238] Chr12:53383010 [GRCh38]
Chr12:53776794 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.83A>C (p.Asn28Thr) single nucleotide variant not specified [RCV004679239] Chr12:53381734 [GRCh38]
Chr12:53775518 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.383C>T (p.Thr128Ile) single nucleotide variant not specified [RCV004679240] Chr12:53382330 [GRCh38]
Chr12:53776114 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.682A>G (p.Met228Val) single nucleotide variant not specified [RCV004670677] Chr12:53382629 [GRCh38]
Chr12:53776413 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_138473.3(SP1):c.1465G>A (p.Gly489Ser) single nucleotide variant not specified [RCV004670676] Chr12:53383412 [GRCh38]
Chr12:53777196 [GRCh37]
Chr12:12q13.13
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1-1hsa-miR-1Mirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22911796
MIR29B1hsa-miR-29b-3pMirtarbaseexternal_infoqRT-PCR//ChIP//Western blotFunctional MTI20385359
MIR29B1hsa-miR-29b-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19211935
MIR218-2hsa-miR-218-5pMirtarbaseexternal_infoImmunoblot//Luciferase reporter assay//qRT-PCRFunctional MTI19913496
MIR29B1hsa-miR-29b-3pOncomiRDBexternal_infoNANA20385359
MIR149hsa-miR-149-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22821729
MIR149hsa-miR-149-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22819824
MIR149hsa-miR-149-5pOncomiRDBexternal_infoNANA22821729
MIR21hsa-miR-21-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI22034194
MIR335hsa-miR-335-5pMirtarbaseexternal_infoReporter assay;Western blotFunctional MTI21618216
MIR335hsa-miR-335-5pTarbaseexternal_infoReporter GenePOSITIVE
MIR27Ahsa-miR-27a-3pTarbaseexternal_infoqPCRPOSITIVE
MIR27Ahsa-miR-27a-3pTarbaseexternal_infoWesternblitPOSITIVE
MIR22hsa-miR-22-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23529765
MIR22hsa-miR-22-3pMirtarbaseexternal_infoReporter assayFunctional MTI21502362
MIR22hsa-miR-22-3pTarbaseexternal_infoReporter GenePOSITIVE
MIR375hsa-miR-375OncomiRDBexternal_infoNANA21945323
MIR22hsa-miR-22-3pOncomiRDBexternal_infoNANA21502362
MIR29B2hsa-miR-29b-3pMirtarbaseexternal_infoqRT-PCR//ChIP//Western blotFunctional MTI20385359
MIR29B2hsa-miR-29b-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19211935
MIR29B2hsa-miR-29b-3pOncomiRDBexternal_infoNANA20385359

Predicted Target Of
Summary Value
Count of predictions:3067
Count of miRNA genes:1180
Interacting mature miRNAs:1518
Transcripts:ENST00000327443, ENST00000426431, ENST00000548560, ENST00000551969
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407178117GWAS827093_Herythrocyte count QTL GWAS827093 (human)1e-34erythrocyte countred blood cell count (CMO:0000025)125338338753383388Human
407313542GWAS962518_Hnon-high density lipoprotein cholesterol measurement QTL GWAS962518 (human)5e-11non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)125340767753407678Human
407107009GWAS755985_Hmean corpuscular volume QTL GWAS755985 (human)1e-40mean corpuscular volumemean corpuscular volume (CMO:0000038)125338939053389391Human
407176199GWAS825175_Hred blood cell density measurement QTL GWAS825175 (human)7e-45red blood cell density measurement125338338753383388Human
406988737GWAS637713_Hmean corpuscular hemoglobin concentration QTL GWAS637713 (human)2e-16mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)125338553753385538Human
406926470GWAS575446_Hdiastolic blood pressure, systolic blood pressure QTL GWAS575446 (human)0.0000002diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)125339370553393706Human
407173123GWAS822099_Herythrocyte count QTL GWAS822099 (human)4e-41erythrocyte countred blood cell count (CMO:0000025)125338338753383388Human
407329935GWAS978911_Hnon-high density lipoprotein cholesterol measurement QTL GWAS978911 (human)2e-10non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)125339913053399131Human
406896201GWAS545177_Herythrocyte count QTL GWAS545177 (human)1e-10brain measurementbrain measurement (CMO:0000911)125338486653384867Human
406965002GWAS613978_Hreticulocyte count QTL GWAS613978 (human)2e-10reticulocyte counttotal reticulocyte count (CMO:0003020)125338939053389391Human
407103112GWAS752088_Hreticulocyte count QTL GWAS752088 (human)3e-18reticulocyte counttotal reticulocyte count (CMO:0003020)125338553753385538Human
407175950GWAS824926_Hcortical surface area measurement QTL GWAS824926 (human)3e-08cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)125338486653384867Human
407228238GWAS877214_Hbone density QTL GWAS877214 (human)4e-09bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)125338684953386850Human
406931981GWAS580957_Hsmoking initiation QTL GWAS580957 (human)1e-11smoking initiation125338939853389399Human
407031631GWAS680607_Hmean corpuscular volume QTL GWAS680607 (human)2e-30mean corpuscular volumemean corpuscular volume (CMO:0000038)125338939053389391Human
406931983GWAS580959_Hsmoking initiation QTL GWAS580959 (human)6e-13smoking initiation125339260153392602Human
407216331GWAS865307_Hbody mass index QTL GWAS865307 (human)6e-13body mass indexbody mass index (BMI) (CMO:0000105)125339207753392078Human
406927124GWAS576100_Hneuroimaging measurement QTL GWAS576100 (human)2e-09neuroimaging measurement125339784653397847Human
407327058GWAS976034_Hlow density lipoprotein cholesterol measurement QTL GWAS976034 (human)9e-12low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)125339913053399131Human
407318033GWAS967009_Hcortical surface area measurement QTL GWAS967009 (human)2e-13cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)125338486653384867Human
407309137GWAS958113_Hlow density lipoprotein cholesterol measurement QTL GWAS958113 (human)2e-12low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)125339953053399531Human
407288721GWAS937697_Hhigh density lipoprotein cholesterol measurement QTL GWAS937697 (human)2e-21high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)125340296053402961Human
407399519GWAS1048495_Hbody height QTL GWAS1048495 (human)0.000001body height (VT:0001253)body height (CMO:0000106)125339207753392078Human
407068313GWAS717289_Hprogressive supranuclear palsy QTL GWAS717289 (human)0.0000004progressive supranuclear palsy125339421853394219Human
406998745GWAS647721_Hmean corpuscular volume QTL GWAS647721 (human)2e-16mean corpuscular volumemean corpuscular volume (CMO:0000038)125339260153392602Human
407308956GWAS957932_Htriglyceride measurement QTL GWAS957932 (human)6e-12triglyceride measurementblood triglyceride level (CMO:0000118)125340297053402971Human
407055263GWAS704239_Hbody mass index QTL GWAS704239 (human)3e-09body mass indexbody mass index (BMI) (CMO:0000105)125339207753392078Human
406903775GWAS552751_Hdiastolic blood pressure, systolic blood pressure QTL GWAS552751 (human)7e-09diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)125339370553393706Human
407338087GWAS987063_Hhemoglobin measurement QTL GWAS987063 (human)7e-09hemoglobin measurementhemoglobin measurement (CMO:0000508)125338694053386941Human
407362852GWAS1011828_Herythrocyte count QTL GWAS1011828 (human)7e-32erythrocyte countred blood cell count (CMO:0000025)125338939053389391Human
407049446GWAS698422_Hcortical surface area measurement QTL GWAS698422 (human)0.0000002cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)125339720153397202Human
406889447GWAS538423_Hneutrophil percentage of leukocytes QTL GWAS538423 (human)3e-10neutrophil percentage of leukocytesblood neutrophil count to total leukocyte count ratio (CMO:0000370)125339738753397388Human
406986795GWAS635771_Hsex hormone-binding globulin measurement QTL GWAS635771 (human)1e-08sex hormone-binding globulin measurement125338939853389399Human
406910826GWAS559802_Hhigh density lipoprotein cholesterol measurement QTL GWAS559802 (human)0.0000006high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)125340296053402961Human
407008306GWAS657282_Hsex hormone-binding globulin measurement QTL GWAS657282 (human)1e-16sex hormone-binding globulin measurement125338939853389399Human
407142196GWAS791172_Hhigh density lipoprotein cholesterol measurement QTL GWAS791172 (human)3e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)125340296053402961Human
407342582GWAS991558_Hcortical thickness QTL GWAS991558 (human)2e-09cortical thickness125340733153407332Human
406956787GWAS605763_Hgas trapping measurement QTL GWAS605763 (human)0.0000006gas trapping measurementabdominal fat pad weight to body weight ratio (CMO:0000095)125339416953394170Human
407085040GWAS734016_Hmean corpuscular volume QTL GWAS734016 (human)3e-15mean corpuscular volumemean corpuscular volume (CMO:0000038)125339416953394170Human
407150711GWAS799687_HParkinson disease QTL GWAS799687 (human)0.000008Parkinson disease125340345253403453Human
407387515GWAS1036491_Hserum alanine aminotransferase measurement QTL GWAS1036491 (human)8e-10serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)125339207753392078Human
406910836GWAS559812_Hhigh density lipoprotein cholesterol measurement QTL GWAS559812 (human)0.000001high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)125340296053402961Human
407112051GWAS761027_Hreticulocyte measurement QTL GWAS761027 (human)1e-10reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)125338553753385538Human
407321712GWAS970688_Hhigh density lipoprotein cholesterol measurement QTL GWAS970688 (human)5e-14high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)125340296053402961Human
407216447GWAS865423_Hred blood cell density measurement QTL GWAS865423 (human)8e-42red blood cell density measurement125338338753383388Human
406999486GWAS648462_Hsex hormone-binding globulin measurement QTL GWAS648462 (human)4e-14sex hormone-binding globulin measurement125338939853389399Human

Markers in Region
SHGC-35173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,806,876 - 53,807,008UniSTSGRCh37
Build 361252,093,143 - 52,093,275RGDNCBI36
Celera1253,457,073 - 53,457,205RGD
Cytogenetic Map12q13.1UniSTS
HuRef1250,847,261 - 50,847,393UniSTS
Stanford-G3 RH Map122186.0UniSTS
GeneMap99-GB4 RH Map12227.66UniSTS
Whitehead-RH Map12326.0UniSTS
NCBI RH Map12442.2UniSTS
GeneMap99-G3 RH Map122132.0UniSTS
RH93219  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,806,524 - 53,806,665UniSTSGRCh37
Build 361252,092,791 - 52,092,932RGDNCBI36
Celera1253,456,723 - 53,456,864RGD
Cytogenetic Map12q13.1UniSTS
HuRef1250,846,911 - 50,847,052UniSTS
GeneMap99-GB4 RH Map12227.66UniSTS
RH65088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,810,010 - 53,810,205UniSTSGRCh37
GRCh37X144,176,975 - 144,177,165UniSTSGRCh37
Build 36X143,984,667 - 143,984,857RGDNCBI36
CeleraX144,489,409 - 144,489,599RGD
Celera1253,460,207 - 53,460,402UniSTS
Cytogenetic Map12q13.1UniSTS
HuRef1250,850,395 - 50,850,589UniSTS
HuRefX133,146,172 - 133,146,362UniSTS
GDB:384842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,805,282 - 53,805,518UniSTSGRCh37
Build 361252,091,549 - 52,091,785RGDNCBI36
Celera1253,455,481 - 53,455,717RGD
Cytogenetic Map12q13.1UniSTS
HuRef1250,845,669 - 50,845,905UniSTS
SHGC-33077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,809,252 - 53,809,388UniSTSGRCh37
Build 361252,095,519 - 52,095,655RGDNCBI36
Celera1253,459,449 - 53,459,585RGD
Cytogenetic Map12q13.1UniSTS
HuRef1250,849,637 - 50,849,773UniSTS
GeneMap99-GB4 RH Map12227.66UniSTS
Whitehead-RH Map12327.8UniSTS
GeneMap99-G3 RH Map122139.0UniSTS
PMC114562P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,776,325 - 53,776,855UniSTSGRCh37
Build 361252,062,592 - 52,063,122RGDNCBI36
Celera1253,425,483 - 53,426,013RGD
HuRef1250,816,948 - 50,817,478UniSTS
SP1_2361  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,808,825 - 53,809,492UniSTSGRCh37
Build 361252,095,092 - 52,095,759RGDNCBI36
Celera1253,459,022 - 53,459,689RGD
HuRef1250,849,210 - 50,849,877UniSTS
A006M45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,810,024 - 53,810,187UniSTSGRCh37
GRCh37X144,176,989 - 144,177,147UniSTSGRCh37
Build 36X143,984,681 - 143,984,839RGDNCBI36
CeleraX144,489,423 - 144,489,581RGD
Celera1253,460,221 - 53,460,384UniSTS
Cytogenetic Map12q13.1UniSTS
HuRefX133,146,186 - 133,146,344UniSTS
HuRef1250,850,409 - 50,850,571UniSTS
GeneMap99-GB4 RH Map12228.07UniSTS
NCBI RH Map12438.5UniSTS
D12S1882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,805,056 - 53,805,242UniSTSGRCh37
Build 361252,091,323 - 52,091,509RGDNCBI36
Celera1253,455,255 - 53,455,441RGD
Cytogenetic Map12q13.1UniSTS
HuRef1250,845,443 - 50,845,629UniSTS
Stanford-G3 RH Map122193.0UniSTS
NCBI RH Map12443.5UniSTS
GeneMap99-G3 RH Map122139.0UniSTS
G15947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,805,366 - 53,805,514UniSTSGRCh37
Build 361252,091,633 - 52,091,781RGDNCBI36
Celera1253,455,565 - 53,455,713RGD
Cytogenetic Map12q13.1UniSTS
HuRef1250,845,753 - 50,845,901UniSTS
RH46968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,805,471 - 53,805,636UniSTSGRCh37
Build 361252,091,738 - 52,091,903RGDNCBI36
Celera1253,455,670 - 53,455,835RGD
Cytogenetic Map12q13.1UniSTS
HuRef1250,845,858 - 50,846,023UniSTS
GeneMap99-GB4 RH Map12227.66UniSTS


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 2251 4971 1726 2351 6 624 1950 465 2269 7304 6470 53 3732 1 851 1743 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001251825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB039286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF252284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF255681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF255682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF261690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI282745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI561005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ272134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL442093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW028976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC078158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF434304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF436290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF671559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM463205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ072120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ431320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ774060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD104746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS691415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ949572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FN908228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000327443   ⟹   ENSP00000329357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1253,380,176 - 53,416,446 (+)Ensembl
Ensembl Acc Id: ENST00000426431   ⟹   ENSP00000404263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1253,380,639 - 53,416,446 (+)Ensembl
Ensembl Acc Id: ENST00000548560   ⟹   ENSP00000458133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1253,381,302 - 53,382,658 (+)Ensembl
Ensembl Acc Id: ENST00000551969   ⟹   ENSP00000457804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1253,380,176 - 53,382,577 (+)Ensembl
RefSeq Acc Id: NM_001251825   ⟹   NP_001238754
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381253,380,176 - 53,416,446 (+)NCBI
GRCh371253,773,979 - 53,810,230 (+)NCBI
HuRef1250,814,656 - 50,850,614 (+)NCBI
CHM1_11253,741,140 - 53,777,425 (+)NCBI
T2T-CHM13v2.01253,346,223 - 53,382,489 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003109   ⟹   NP_003100
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381253,380,644 - 53,416,446 (+)NCBI
GRCh371253,773,979 - 53,810,230 (+)ENTREZGENE
HuRef1250,814,656 - 50,850,614 (+)ENTREZGENE
CHM1_11253,741,589 - 53,777,425 (+)NCBI
T2T-CHM13v2.01253,346,691 - 53,382,489 (+)NCBI
Sequence:
RefSeq Acc Id: NM_138473   ⟹   NP_612482
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381253,380,176 - 53,416,446 (+)NCBI
GRCh371253,773,979 - 53,810,230 (+)ENTREZGENE
Build 361252,060,246 - 52,096,497 (+)NCBI Archive
HuRef1250,814,656 - 50,850,614 (+)ENTREZGENE
CHM1_11253,741,140 - 53,777,425 (+)NCBI
T2T-CHM13v2.01253,346,223 - 53,382,489 (+)NCBI
Sequence: