PMAIP1 (phorbol-12-myristate-13-acetate-induced protein 1) - Rat Genome Database

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Gene: PMAIP1 (phorbol-12-myristate-13-acetate-induced protein 1) Homo sapiens
Analyze
Symbol: PMAIP1
Name: phorbol-12-myristate-13-acetate-induced protein 1
RGD ID: 1347426
HGNC Page HGNC:9108
Description: Involved in several processes, including cellular response to glucose starvation; positive regulation of release of cytochrome c from mitochondria; and positive regulation of signal transduction. Acts upstream of or within apoptotic process. Located in several cellular components, including Bcl-2 family protein complex; cytosol; and mitochondrion.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: adult T cell leukemia-derived PMA-responsive; APR; immediate-early-response protein APR; NOXA; PMA-induced protein 1
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
GRCh381859,899,996 - 59,904,305 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1859,899,996 - 59,904,305 (+)EnsemblGRCh38hg38GRCh38
GRCh371857,567,228 - 57,571,537 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361855,718,172 - 55,722,518 (+)NCBINCBI36Build 36hg18NCBI36
Build 341855,718,216 - 55,722,517NCBI
Celera1854,285,254 - 54,289,600 (+)NCBICelera
Cytogenetic Map18q21.32NCBI
HuRef1854,276,682 - 54,281,028 (+)NCBIHuRef
CHM1_11857,562,830 - 57,567,176 (+)NCBICHM1_1
T2T-CHM13v2.01860,102,671 - 60,106,980 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-anisomycin  (EXP)
(-)-demecolcine  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-benzothiazole-2-thiol  (EXP)
1,4-phenylenediamine  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
1-fluoro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2-bis(hydroxymethyl)-1-azabicyclo[2.2.2]octan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-acetamidofluorene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3'-diindolylmethane  (EXP)
3-phenylprop-2-enal  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (EXP)
4-hydroperoxycyclophosphamide  (ISO)
4-hydroxyphenyl retinamide  (EXP)
4-Nerolidylcatechol  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-bromoindirubin-3'-oxime  (EXP)
6-O-methylguanine  (EXP)
9,10-phenanthroquinone  (EXP)
ABT-737  (EXP)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
acrolein  (EXP)
acrylamide  (EXP)
adefovir pivoxil  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
amphetamine  (ISO)
amphotericin B  (EXP)
antimycin A  (EXP)
antirheumatic drug  (EXP)
arachidonic acid  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
Aurin  (EXP)
baicalein  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (ISO)
benzyl bromide  (EXP)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bortezomib  (EXP)
butanal  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
cannabidiol  (EXP)
cantharidin  (ISO)
carboplatin  (EXP)
celecoxib  (EXP)
CGP 52608  (EXP)
chloroacetaldehyde  (EXP)
chloromethylisothiazolinone  (EXP)
chloroprene  (ISO)
chloroquine  (EXP)
chlorpyrifos  (EXP,ISO)
choline  (ISO)
chromium(6+)  (EXP)
chrysene  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP,ISO)
clodronic acid  (EXP)
cobalt atom  (EXP)
cobalt dichloride  (EXP)
cobalt(2+) sulfate  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP,ISO)
CU-O LINKAGE  (EXP)
curcumin  (EXP)
cycloheximide  (EXP)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP)
D-penicillamine  (EXP)
deoxynivalenol  (EXP)
desferrioxamine B  (EXP)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dichloromethane  (EXP)
diclofenac  (ISO)
dihydroartemisinin  (EXP)
dimethyl sulfate  (EXP)
dimethylarsinic acid  (ISO)
dioxygen  (EXP,ISO)
disodium selenite  (EXP)
disulfiram  (EXP)
Dodecyl gallate  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elesclomol  (EXP)
entinostat  (EXP)
ethanol  (EXP)
ethyl methanesulfonate  (EXP)
ethylbenzene  (EXP)
etoposide  (EXP)
eugenol  (EXP)
fenvalerate  (EXP)
flubendazole  (EXP)
flusilazole  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
genistein  (EXP)
gentamycin  (EXP,ISO)
glucose  (EXP)
glutaraldehyde  (EXP)
glyphosate  (EXP)
gold atom  (ISO)
gold(0)  (ISO)
hexaconazole  (ISO)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
hydroxyurea  (ISO)
indometacin  (EXP)
ionomycin  (EXP)
iopamidol  (EXP)
irinotecan  (EXP)
iron dichloride  (EXP)
isoprenaline  (EXP)
L-ascorbic acid  (EXP)
L-methionine  (ISO)
leflunomide  (EXP)
Licochalcone B  (EXP)
lipopolysaccharide  (EXP,ISO)
lithium chloride  (EXP)
LY294002  (EXP)
maneb  (EXP)
manganese(II) chloride  (ISO)
melatonin  (EXP)
menadione  (EXP)
mercury dibromide  (EXP)
mercury dichloride  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylarsonic acid  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
metiram  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
motexafin gadolinium  (EXP)
N(6)-dimethylallyladenine  (EXP)
N-acetyl-L-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-Nitrosopyrrolidine  (EXP)
nefazodone  (EXP)
nickel atom  (EXP)
nickel dichloride  (EXP)
nickel sulfate  (EXP)
nitric oxide  (EXP)
Nutlin-3  (EXP)
o-xylene  (EXP)
ochratoxin A  (EXP)
oxaliplatin  (EXP)
ozone  (EXP,ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP)
patulin  (EXP)
pentanal  (EXP)
perfluorononanoic acid  (EXP)
pevonedistat  (EXP,ISO)
phenobarbital  (EXP)
phenylmercury acetate  (EXP)
pifithrin-?  (EXP,ISO)
pirinixic acid  (ISO)
pitavastatin  (EXP)
pitavastatin(1-)  (EXP)
potassium chromate  (EXP)
potassium dichromate  (EXP)
progesterone  (EXP,ISO)
promethazine  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
ruthenium atom  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
sanguinarine  (EXP)
SB 431542  (EXP)
selinexor  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
simvastatin  (EXP)
sirolimus  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sorafenib  (EXP)
sulindac sulfide  (EXP)
sunitinib  (EXP)
tebufenpyrad  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thapsigargin  (EXP,ISO)
thifluzamide  (EXP)
thioacetamide  (ISO)
thiostrepton  (EXP)
Tiron  (EXP)
titanium dioxide  (ISO)
toluene  (EXP)
torcetrapib  (EXP)
triacsin C  (EXP)
triadimefon  (ISO)
Tributyltin oxide  (EXP)
trichloroethene  (EXP)
triptonide  (ISO)
troglitazone  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
venetoclax  (EXP)
versicolorin A  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
zinc acetate  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
apoptotic process  (IEA,IMP)
cellular response to glucose starvation  (IMP)
cellular response to hypoxia  (IEP)
defense response to virus  (IDA)
DNA damage response  (IEA,ISO)
fibroblast apoptotic process  (ISO)
intrinsic apoptotic signaling pathway  (IDA)
intrinsic apoptotic signaling pathway by p53 class mediator  (IMP)
intrinsic apoptotic signaling pathway in response to DNA damage  (ISO)
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  (ISO)
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  (ISO)
negative regulation of fibroblast proliferation  (ISO)
negative regulation of mitochondrial membrane potential  (ISS)
positive regulation of apoptotic process  (IDA,IMP,ISO)
positive regulation of DNA damage response, signal transduction by p53 class mediator  (IMP)
positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway  (TAS)
positive regulation of establishment of protein localization to mitochondrion  (ISO)
positive regulation of extrinsic apoptotic signaling pathway via death domain receptors  (IDA)
positive regulation of fibroblast apoptotic process  (ISO)
positive regulation of glucose metabolic process  (IDA)
positive regulation of intrinsic apoptotic signaling pathway  (IDA)
positive regulation of neuron apoptotic process  (ISO)
positive regulation of release of cytochrome c from mitochondria  (IDA,IMP)
proteasomal protein catabolic process  (IDA)
reactive oxygen species metabolic process  (IDA)
regulation of mitochondrial membrane permeability  (IDA)
release of cytochrome c from mitochondria  (IEA,ISO)
response to dsRNA  (IDA)
response to UV  (ISO)
response to X-ray  (ISO)
T cell homeostasis  (ISS)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. BH3-only proteins in apoptosis and beyond: an overview. Lomonosova E and Chinnadurai G, Oncogene. 2008 Dec;27 Suppl 1:S2-19.
3. Pituitary adenylate cyclase-activating polypeptide attenuates streptozotocin-induced apoptotic death of RIN-m5F cells through regulation of Bcl-2 family protein mRNA expression. Onoue S, etal., FEBS J. 2008 Nov;275(22):5542-51.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Immune cell profiling of COVID-19 patients in the recovery stage by single-cell sequencing. Wen W, etal., Cell Discov. 2020 May 4;6:31. doi: 10.1038/s41421-020-0168-9. eCollection 2020.
7. Heightened Innate Immune Responses in the Respiratory Tract of COVID-19 Patients. Zhou Z, etal., Cell Host Microbe. 2020 Jun 10;27(6):883-890.e2. doi: 10.1016/j.chom.2020.04.017. Epub 2020 May 4.
Additional References at PubMed
PMID:2398525   PMID:10807576   PMID:11181995   PMID:12477932   PMID:12879012   PMID:14500711   PMID:14500851   PMID:14699081   PMID:15102863   PMID:15299072   PMID:15489334   PMID:15572378  
PMID:15694340   PMID:15705586   PMID:15721256   PMID:15856024   PMID:15901672   PMID:16169070   PMID:16697956   PMID:16782027   PMID:16888645   PMID:16928686   PMID:17024184   PMID:17038534  
PMID:17216584   PMID:17227835   PMID:17289999   PMID:17599062   PMID:18192275   PMID:18231856   PMID:18354037   PMID:18398749   PMID:18408751   PMID:18630524   PMID:18708163   PMID:18784742  
PMID:19050264   PMID:19148187   PMID:19164757   PMID:19269851   PMID:19298224   PMID:19322201   PMID:19372561   PMID:19452318   PMID:19515722   PMID:19540835   PMID:19815839   PMID:20051518  
PMID:20085765   PMID:20156337   PMID:20223826   PMID:20393480   PMID:20694148   PMID:20802529   PMID:20810912   PMID:20935673   PMID:21048031   PMID:21113147   PMID:21132008   PMID:21139584  
PMID:21145489   PMID:21153863   PMID:21353614   PMID:21454712   PMID:21516346   PMID:21518486   PMID:21525171   PMID:21613222   PMID:21628457   PMID:21698224   PMID:21873635   PMID:21900206  
PMID:21907705   PMID:21911456   PMID:22013210   PMID:22216287   PMID:22219388   PMID:22245094   PMID:22361683   PMID:22430213   PMID:22446329   PMID:22548841   PMID:22590594   PMID:22615771  
PMID:22718761   PMID:23014529   PMID:23300762   PMID:23302226   PMID:23341456   PMID:23429261   PMID:23499448   PMID:23563182   PMID:23669352   PMID:23684722   PMID:23770082   PMID:23770605  
PMID:23798675   PMID:23828551   PMID:24355989   PMID:24387758   PMID:24457957   PMID:24525728   PMID:24811167   PMID:24901046   PMID:24991768   PMID:25210795   PMID:25281560   PMID:25365078  
PMID:25404713   PMID:25429623   PMID:25714012   PMID:25829494   PMID:25922916   PMID:25975837   PMID:26045051   PMID:26422397   PMID:26497683   PMID:26680268   PMID:26847916   PMID:26871637  
PMID:26903157   PMID:27166195   PMID:27517746   PMID:27521572   PMID:27591266   PMID:27701804   PMID:27862899   PMID:28619845   PMID:28670929   PMID:28863158   PMID:29358700   PMID:29521234  
PMID:29758299   PMID:29799788   PMID:30255595   PMID:30404918   PMID:30445933   PMID:30660647   PMID:31294695   PMID:31682805   PMID:32094511   PMID:32148779   PMID:32296183   PMID:32320335  
PMID:32457483   PMID:32484436   PMID:32648994   PMID:32682341   PMID:32913203   PMID:32961197   PMID:33184273   PMID:33244167   PMID:33420360   PMID:33712558   PMID:33961781   PMID:34332177  
PMID:34857952   PMID:34903710   PMID:35338135   PMID:36346691   PMID:37741850   PMID:38113892   PMID:38503887   PMID:38692009  


Genomics

Comparative Map Data
PMAIP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381859,899,996 - 59,904,305 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1859,899,996 - 59,904,305 (+)EnsemblGRCh38hg38GRCh38
GRCh371857,567,228 - 57,571,537 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361855,718,172 - 55,722,518 (+)NCBINCBI36Build 36hg18NCBI36
Build 341855,718,216 - 55,722,517NCBI
Celera1854,285,254 - 54,289,600 (+)NCBICelera
Cytogenetic Map18q21.32NCBI
HuRef1854,276,682 - 54,281,028 (+)NCBIHuRef
CHM1_11857,562,830 - 57,567,176 (+)NCBICHM1_1
T2T-CHM13v2.01860,102,671 - 60,106,980 (+)NCBIT2T-CHM13v2.0
Pmaip1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391866,591,675 - 66,598,629 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1866,591,604 - 66,598,636 (+)EnsemblGRCm39 Ensembl
GRCm381866,458,604 - 66,465,558 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1866,458,533 - 66,465,565 (+)EnsemblGRCm38mm10GRCm38
MGSCv371866,618,258 - 66,625,212 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361866,583,973 - 66,590,927 (+)NCBIMGSCv36mm8
Celera1867,745,077 - 67,752,031 (+)NCBICelera
Cytogenetic Map18E1NCBI
cM Map1839.52NCBI
Pmaip1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81862,255,970 - 62,262,384 (+)NCBIGRCr8
mRatBN7.21859,986,020 - 59,992,434 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1859,986,017 - 59,992,429 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1862,070,712 - 62,074,695 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01862,769,423 - 62,773,407 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01860,619,311 - 60,623,296 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01862,159,128 - 62,179,635 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1862,174,670 - 62,181,102 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01861,365,056 - 61,369,043 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41862,914,845 - 62,918,832 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11862,988,045 - 62,992,033 (+)NCBI
Celera1858,105,912 - 58,109,899 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
Pmaip1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540244,005,517 - 44,010,722 (+)NCBIChiLan1.0ChiLan1.0
LOC100979315
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21777,437,419 - 77,441,738 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11863,130,031 - 63,134,350 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01853,286,590 - 53,290,913 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11856,611,098 - 56,615,449 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1856,611,098 - 56,615,449 (+)Ensemblpanpan1.1panPan2
PMAIP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1116,469,793 - 16,472,910 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl116,469,793 - 16,472,910 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha117,446,017 - 17,449,325 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0116,340,520 - 16,344,361 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl116,340,520 - 16,344,361 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1116,376,897 - 16,380,246 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0116,303,869 - 16,307,124 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0116,558,934 - 16,562,268 (-)NCBIUU_Cfam_GSD_1.0
Pmaip1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494429,746,960 - 29,747,884 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049364974,985,995 - 4,986,720 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PMAIP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1161,182,887 - 161,188,164 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11161,184,458 - 161,188,138 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21178,853,630 - 178,857,420 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PMAIP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11819,861,182 - 19,865,628 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1819,862,743 - 19,865,250 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660605,737,434 - 5,741,800 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pmaip1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247925,330,289 - 5,338,067 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PMAIP1
2 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 copy number loss See cases [RCV000051032] Chr18:56618038..80252149 [GRCh38]
Chr18:54285269..78010032 [GRCh37]
Chr18:52436267..76111023 [NCBI36]
Chr18:18q21.31-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 copy number loss See cases [RCV000053873] Chr18:56353040..80209986 [GRCh38]
Chr18:54020271..77967869 [GRCh37]
Chr18:52171269..76068860 [NCBI36]
Chr18:18q21.31-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1 copy number loss See cases [RCV000053836] Chr18:52156899..65408762 [GRCh38]
Chr18:49683269..63075998 [GRCh37]
Chr18:47937267..61226978 [NCBI36]
Chr18:18q21.2-22.1
pathogenic
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1 copy number loss See cases [RCV000133689] Chr18:59567681..80252149 [GRCh38]
Chr18:57234913..78010032 [GRCh37]
Chr18:55385893..76111023 [NCBI36]
Chr18:18q21.32-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1 copy number loss See cases [RCV000136501] Chr18:54857756..60590631 [GRCh38]
Chr18:52524987..58257864 [GRCh37]
Chr18:50675985..56408844 [NCBI36]
Chr18:18q21.2-21.32
pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1
pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23
pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23
pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55793243-68705548)x1 copy number loss See cases [RCV000449209] Chr18:55793243..68705548 [GRCh37]
Chr18:18q21.31-22.3
pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)x1 copy number loss See cases [RCV000446087] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23
likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 copy number loss See cases [RCV000512059] Chr18:54462182..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1
pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23
pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1 copy number loss not provided [RCV000684056] Chr18:55083032..72743857 [GRCh37]
Chr18:18q21.31-22.3
pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1 copy number loss not provided [RCV000684058] Chr18:56905884..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 copy number loss not provided [RCV000684059] Chr18:55298900..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.2-21.33(chr18:51036415-59275480)x1 copy number loss not provided [RCV000739822] Chr18:51036415..59275480 [GRCh37]
Chr18:18q21.2-21.33
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.32-22.1(chr18:57244903-63722436)x1 copy number loss not provided [RCV000752355] Chr18:57244903..63722436 [GRCh37]
Chr18:18q21.32-22.1
benign
GRCh37/hg19 18q21.32-23(chr18:57244903-77325446)x1 copy number loss not provided [RCV000752356] Chr18:57244903..77325446 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1 copy number loss not provided [RCV001007018] Chr18:56750525..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 copy number loss not provided [RCV001007017] Chr18:55458425..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33
pathogenic
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1 copy number loss not provided [RCV001531449] Chr18:54285235..77960815 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q21.32(chr18:57119208-57574957)x3 copy number gain not provided [RCV001006987] Chr18:57119208..57574957 [GRCh37]
Chr18:18q21.32
uncertain significance
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) copy number gain Global developmental delay [RCV001352665] Chr18:51925586..78010032 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) copy number loss not specified [RCV002052636] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) copy number loss not specified [RCV002052641] Chr18:52675201..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123) copy number loss not specified [RCV002052646] Chr18:53309113..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) copy number loss not specified [RCV002052642] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) copy number loss not specified [RCV002052643] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988) copy number loss not specified [RCV002052639] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1
pathogenic
NC_000018.9:g.(?_55217944)_(58039582_?)del deletion not provided [RCV003120789] Chr18:55217944..58039582 [GRCh37]
Chr18:18q21.31-21.32
pathogenic|uncertain significance
NC_000018.9:g.(?_55217944)_(58040587_?)dup duplication not provided [RCV001922994] Chr18:55217944..58040587 [GRCh37]
Chr18:18q21.31-21.32
uncertain significance
NC_000018.9:g.(?_55217944)_(58039582_?)dup duplication Combined immunodeficiency due to MALT1 deficiency [RCV003109569]|not provided [RCV003116545] Chr18:55217944..58039582 [GRCh37]
Chr18:18q21.31-21.32
uncertain significance|no classifications from unflagged records
NC_000018.9:g.(?_55217944)_(58040587_?)del deletion Isolated microphthalmia 3 [RCV003116662]|not provided [RCV003116663] Chr18:55217944..58040587 [GRCh37]
Chr18:18q21.31-21.32
pathogenic|no classifications from unflagged records
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1 copy number loss not provided [RCV002473956] Chr18:53624405..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
NM_021127.3(PMAIP1):c.28G>A (p.Ala10Thr) single nucleotide variant not specified [RCV004231793] Chr18:59900205 [GRCh38]
Chr18:57567437 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_021127.3(PMAIP1):c.35C>T (p.Pro12Leu) single nucleotide variant not specified [RCV004359218] Chr18:59900212 [GRCh38]
Chr18:57567444 [GRCh37]
Chr18:18q21.32
uncertain significance
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1 copy number loss not specified [RCV003986103] Chr18:48766173..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1 copy number loss not specified [RCV003987273] Chr18:55363398..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
NM_021127.3(PMAIP1):c.95T>G (p.Phe32Cys) single nucleotide variant not specified [RCV004509583] Chr18:59902683 [GRCh38]
Chr18:57569915 [GRCh37]
Chr18:18q21.32
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR200Chsa-miR-200c-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22615771

Predicted Target Of
Summary Value
Count of predictions:783
Count of miRNA genes:421
Interacting mature miRNAs:450
Transcripts:ENST00000269518, ENST00000316660, ENST00000590596
Prediction methods: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.

Markers in Region
STS-D90070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371857,571,173 - 57,571,361UniSTSGRCh37
GRCh371857,570,011 - 57,570,240UniSTSGRCh37
Build 361855,722,153 - 55,722,341RGDNCBI36
Celera1854,289,235 - 54,289,423RGD
Celera1854,288,073 - 54,288,302UniSTS
Cytogenetic Map18q21.32UniSTS
HuRef1854,280,663 - 54,280,851UniSTS
HuRef1854,279,501 - 54,279,730UniSTS
GeneMap99-GB4 RH Map18399.4UniSTS
NCBI RH Map18753.2UniSTS
RH81004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371857,571,337 - 57,571,518UniSTSGRCh37
Build 361855,722,317 - 55,722,498RGDNCBI36
Celera1854,289,399 - 54,289,580RGD
Cytogenetic Map18q21.32UniSTS
HuRef1854,280,827 - 54,281,008UniSTS
GeneMap99-GB4 RH Map18404.91UniSTS
RH98852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371857,570,521 - 57,570,710UniSTSGRCh37
Build 361855,721,501 - 55,721,690RGDNCBI36
Celera1854,288,583 - 54,288,772RGD
Cytogenetic Map18q21.32UniSTS
HuRef1854,280,011 - 54,280,200UniSTS
PMAIP1__5732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371857,570,722 - 57,571,576UniSTSGRCh37
Build 361855,721,702 - 55,722,556RGDNCBI36
Celera1854,288,784 - 54,289,638RGD
HuRef1854,280,212 - 54,281,066UniSTS
STS-D90070  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q21.32UniSTS
GeneMap99-GB4 RH Map18404.74UniSTS
NCBI RH Map18745.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 11
Medium 239 132 219 51 913 30 1239 65 258 99 326 407 36 28 444 3
Low 1804 1563 921 327 920 200 2241 1285 3086 272 1047 1059 129 1 1084 1535 3 1
Below cutoff 393 1263 575 235 104 225 859 837 388 48 86 147 10 92 791

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001382615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC107990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF667112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM999509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D90070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000269518   ⟹   ENSP00000269518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,900,016 - 59,903,537 (+)Ensembl
RefSeq Acc Id: ENST00000316660   ⟹   ENSP00000326119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,899,996 - 59,904,305 (+)Ensembl
RefSeq Acc Id: ENST00000590596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,900,036 - 59,902,963 (+)Ensembl
RefSeq Acc Id: NM_001382615   ⟹   NP_001369544
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,899,996 - 59,904,305 (+)NCBI
T2T-CHM13v2.01860,102,671 - 60,106,980 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382616   ⟹   NP_001369545
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,899,996 - 59,904,305 (+)NCBI
T2T-CHM13v2.01860,102,671 - 60,106,980 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382617   ⟹   NP_001369546
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,899,996 - 59,904,305 (+)NCBI
T2T-CHM13v2.01860,102,671 - 60,106,980 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382618   ⟹   NP_001369547
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,899,996 - 59,904,305 (+)NCBI
T2T-CHM13v2.01860,102,671 - 60,106,980 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382623   ⟹   NP_001369552
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,899,996 - 59,904,305 (+)NCBI
T2T-CHM13v2.01860,102,671 - 60,106,980 (+)NCBI
Sequence:
RefSeq Acc Id: NM_021127   ⟹   NP_066950
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,899,996 - 59,904,305 (+)NCBI
GRCh371857,567,153 - 57,571,538 (+)NCBI
Build 361855,718,172 - 55,722,518 (+)NCBI Archive
HuRef1854,276,682 - 54,281,028 (+)ENTREZGENE
CHM1_11857,562,830 - 57,567,176 (+)NCBI
T2T-CHM13v2.01860,102,671 - 60,106,980 (+)NCBI
Sequence:
RefSeq Acc Id: NP_066950   ⟸   NM_021127
- Peptide Label: isoform 6
- UniProtKB: B2R4T7 (UniProtKB/Swiss-Prot),   Q8N589 (UniProtKB/Swiss-Prot),   Q13794 (UniProtKB/Swiss-Prot),   A0A0S2Z490 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001369546   ⟸   NM_001382617
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001369552   ⟸   NM_001382623
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001369545   ⟸   NM_001382616
- Peptide Label: isoform 1
- UniProtKB: A0A0S2Z4V2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369547   ⟸   NM_001382618
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001369544   ⟸   NM_001382615
- Peptide Label: isoform 5
RefSeq Acc Id: ENSP00000269518   ⟸   ENST00000269518
RefSeq Acc Id: ENSP00000326119   ⟸   ENST00000316660

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13794-F1-model_v2 AlphaFold Q13794 1-54 view protein structure

Promoters
RGD ID:6794958
Promoter ID:HG_KWN:28118
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:OTTHUMT00000256137,   UC002LID.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361855,717,461 - 55,718,282 (+)MPROMDB
RGD ID:6853568
Promoter ID:EP74612
Type:initiation region
Name:HS_PMAIP1
Description:Phorbol-12-myristate-13-acetate-induced protein 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361855,718,208 - 55,718,268EPD
RGD ID:6814624
Promoter ID:HG_XEF:3738
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:NM_001008385
Position:
Human AssemblyChrPosition (strand)Source
Build 361855,721,064 - 55,721,564 (+)MPROMDB
RGD ID:7237471
Promoter ID:EPDNEW_H24481
Type:initiation region
Name:PMAIP1_1
Description:phorbol-12-myristate-13-acetate-induced protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,899,996 - 59,900,056EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9108 AgrOrtholog
COSMIC PMAIP1 COSMIC
Ensembl Genes ENSG00000141682 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000269518 ENTREZGENE
  ENST00000269518.9 UniProtKB/Swiss-Prot
  ENST00000316660 ENTREZGENE
  ENST00000316660.7 UniProtKB/Swiss-Prot
GTEx ENSG00000141682 GTEx
HGNC ID HGNC:9108 ENTREZGENE
Human Proteome Map PMAIP1 Human Proteome Map
InterPro Noxa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5366 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5366 ENTREZGENE
OMIM 604959 OMIM
PANTHER PHORBOL-12-MYRISTATE-13-ACETATE-INDUCED PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14299 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PMAIP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33434 PharmGKB
UniProt A0A0S2Z490 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4V2 ENTREZGENE, UniProtKB/TrEMBL
  APR_HUMAN UniProtKB/Swiss-Prot
  B2R4T7 ENTREZGENE
  Q13794 ENTREZGENE
  Q8N589 ENTREZGENE
UniProt Secondary B2R4T7 UniProtKB/Swiss-Prot
  Q8N589 UniProtKB/Swiss-Prot