PDCD6IP (programmed cell death 6 interacting protein) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: PDCD6IP (programmed cell death 6 interacting protein) Homo sapiens
Analyze
Symbol: PDCD6IP
Name: programmed cell death 6 interacting protein
RGD ID: 68505
HGNC Page HGNC:8766
Description: Enables calcium-dependent protein binding activity; protein homodimerization activity; and proteinase activated receptor binding activity. Involved in several processes, including midbody abscission; positive regulation of cellular component biogenesis; and ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway. Located in several cellular components, including Flemming body; endoplasmic reticulum exit site; and immunological synapse. Implicated in primary autosomal recessive microcephaly.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AIP1; ALG-2 interacting protein 1; ALG-2 interacting protein X; ALG-2-interacting protein 1; ALG-2-interacting protein X; Alix; apoptosis-linked gene 2-interacting protein X; dopamine receptor interacting protein 4; DRIP4; HP95; MCPH29; MGC17003; PDCD6-interacting protein; programmed cell death 6-interacting protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PDCD6IPP1   PDCD6IPP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38333,798,630 - 33,869,703 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl333,798,571 - 33,869,707 (+)EnsemblGRCh38hg38GRCh38
GRCh37333,840,122 - 33,911,195 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36333,814,561 - 33,886,198 (+)NCBINCBI36Build 36hg18NCBI36
Build 34333,814,560 - 33,886,198NCBI
Celera333,783,127 - 33,854,073 (+)NCBICelera
Cytogenetic Map3p22.3NCBI
HuRef333,781,264 - 33,852,387 (+)NCBIHuRef
CHM1_1333,789,988 - 33,861,201 (+)NCBICHM1_1
T2T-CHM13v2.0333,799,362 - 33,870,437 (+)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
1,2-dimethylhydrazine  (ISO)
1,4-dithiothreitol  (EXP)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-bromohexadecanoic acid  (EXP)
2-hydroxypropanoic acid  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diisothiocyano-trans-stilbene-2,2'-disulfonic acid  (EXP)
4,4'-sulfonyldiphenol  (EXP)
5-fluorouracil  (EXP)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
antimycin A  (EXP)
aristolochic acid A  (EXP)
atrazine  (EXP)
azoxystrobin  (EXP)
beauvericin  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
Brodifacoum  (ISO)
butyric acid  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
dexamethasone  (EXP)
dibenz[a,h]anthracene  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
Enterolactone  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenthion  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
hesperetin  (EXP)
Honokiol  (EXP)
indometacin  (EXP)
ivermectin  (EXP)
L-1,4-dithiothreitol  (EXP)
methapyrilene  (ISO)
methylmercury chloride  (EXP)
morusin  (EXP)
N-acetyl-L-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
nitric oxide  (ISO)
oxybenzone  (ISO)
ozone  (EXP,ISO)
paracetamol  (EXP)
phenobarbital  (ISO)
picoxystrobin  (EXP)
poly(I:C)  (ISO)
pyrene  (ISO)
rac-lactic acid  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
succimer  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
uranium atom  (EXP)
vinclozolin  (ISO)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype 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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7829101   PMID:8889548   PMID:9880530   PMID:10200558   PMID:10718198   PMID:10858458   PMID:11683497   PMID:11883939   PMID:12034747   PMID:12360406   PMID:12477932   PMID:12588984  
PMID:12771190   PMID:12860994   PMID:12927788   PMID:14505569   PMID:14505570   PMID:14519844   PMID:14583093   PMID:14678797   PMID:14702039   PMID:14739459   PMID:14999017   PMID:15195070  
PMID:15231748   PMID:15326289   PMID:15456872   PMID:15489334   PMID:15509564   PMID:15557335   PMID:15849434   PMID:15914539   PMID:16004603   PMID:16169070   PMID:16234236   PMID:16344560  
PMID:16470130   PMID:16501490   PMID:16764724   PMID:16957052   PMID:17014699   PMID:17081065   PMID:17082185   PMID:17158451   PMID:17166905   PMID:17174262   PMID:17196169   PMID:17229889  
PMID:17250865   PMID:17277784   PMID:17350527   PMID:17350572   PMID:17353931   PMID:17389591   PMID:17428861   PMID:17556548   PMID:17601348   PMID:17673164   PMID:17853893   PMID:17927229  
PMID:17982468   PMID:18005675   PMID:18029348   PMID:18032513   PMID:18066081   PMID:18076669   PMID:18380665   PMID:18434552   PMID:18476810   PMID:18477395   PMID:18511562   PMID:18641129  
PMID:18644787   PMID:18684393   PMID:18936101   PMID:18940611   PMID:18948538   PMID:19016654   PMID:19020832   PMID:19056867   PMID:19064259   PMID:19099395   PMID:19143627   PMID:19143629  
PMID:19143631   PMID:19199708   PMID:19254034   PMID:19282983   PMID:19322201   PMID:19393081   PMID:19403673   PMID:19520058   PMID:19523902   PMID:19531213   PMID:19542561   PMID:19596386  
PMID:19639585   PMID:19692479   PMID:19706535   PMID:19738201   PMID:19802344   PMID:19906316   PMID:19912576   PMID:19946888   PMID:20018238   PMID:20156100   PMID:20176808   PMID:20360068  
PMID:20379614   PMID:20467437   PMID:20519395   PMID:20562859   PMID:20588296   PMID:20605035   PMID:20616062   PMID:20653365   PMID:20669987   PMID:20670214   PMID:20691033   PMID:20800603  
PMID:20929444   PMID:20936779   PMID:20962096   PMID:21129143   PMID:21145461   PMID:21191027   PMID:21248028   PMID:21276792   PMID:21394083   PMID:21423176   PMID:21518163   PMID:21528537  
PMID:21543492   PMID:21715492   PMID:21738476   PMID:21762796   PMID:21762798   PMID:21786200   PMID:21873635   PMID:21889351   PMID:21900206   PMID:21911577   PMID:21988832   PMID:22004035  
PMID:22162750   PMID:22421880   PMID:22484091   PMID:22547407   PMID:22558309   PMID:22586326   PMID:22589738   PMID:22623428   PMID:22641034   PMID:22660413   PMID:22754649   PMID:22761998  
PMID:22771033   PMID:22833563   PMID:22844345   PMID:22863883   PMID:22896625   PMID:22939629   PMID:22969426   PMID:22981647   PMID:23027949   PMID:23088713   PMID:23092844   PMID:23201121  
PMID:23266279   PMID:23305486   PMID:23376485   PMID:23527201   PMID:23533145   PMID:23602568   PMID:23664863   PMID:23726974   PMID:23777424   PMID:23824909   PMID:23895345   PMID:23924735  
PMID:24024966   PMID:24105262   PMID:24107264   PMID:24257210   PMID:24287454   PMID:24457600   PMID:24637612   PMID:24658140   PMID:24711643   PMID:24712823   PMID:24769233   PMID:24834918  
PMID:24870593   PMID:24996823   PMID:25066606   PMID:25099357   PMID:25102091   PMID:25118280   PMID:25402006   PMID:25416956   PMID:25451933   PMID:25502766   PMID:25510652   PMID:25534348  
PMID:25633977   PMID:25659891   PMID:25666610   PMID:25667979   PMID:25686249   PMID:25693804   PMID:25710462   PMID:25732677   PMID:25749978   PMID:25921289   PMID:26063962   PMID:26139244  
PMID:26344197   PMID:26490116   PMID:26496610   PMID:26508657   PMID:26511642   PMID:26549023   PMID:26777405   PMID:26831064   PMID:26859355   PMID:26866605   PMID:26929449   PMID:26935291  
PMID:26949251   PMID:26962944   PMID:26980041   PMID:27150162   PMID:27244115   PMID:27280284   PMID:27301021   PMID:27339686   PMID:27578500   PMID:27609421   PMID:27621311   PMID:27684187  
PMID:27716508   PMID:27839950   PMID:27909058   PMID:28031328   PMID:28190767   PMID:28378594   PMID:28515276   PMID:28611215   PMID:28675297   PMID:28846114   PMID:29128334   PMID:29467282  
PMID:29564676   PMID:29604273   PMID:29891975   PMID:30021161   PMID:30097533   PMID:30463901   PMID:30471916   PMID:30575818   PMID:30599162   PMID:30619736   PMID:30711629   PMID:30760577  
PMID:30833792   PMID:30944935   PMID:30948266   PMID:31073040   PMID:31091453   PMID:31138766   PMID:31159502   PMID:31172941   PMID:31182584   PMID:31253590   PMID:31300519   PMID:31413325  
PMID:31515488   PMID:31586073   PMID:31672844   PMID:31871319   PMID:31995728   PMID:32049272   PMID:32176739   PMID:32213612   PMID:32286682   PMID:32321914   PMID:32416067   PMID:32597834  
PMID:32687490   PMID:32694731   PMID:32707033   PMID:32731849   PMID:32786267   PMID:32917811   PMID:32994219   PMID:33058236   PMID:33139753   PMID:33141564   PMID:33239621   PMID:33277362  
PMID:33545068   PMID:33644029   PMID:33961781   PMID:34287046   PMID:34316702   PMID:34349018   PMID:34373451   PMID:34645483   PMID:34688656   PMID:34709727   PMID:34761192   PMID:34851141  
PMID:35013556   PMID:35016035   PMID:35032548   PMID:35044719   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35551201   PMID:35562734  
PMID:35654790   PMID:35776542   PMID:35831314   PMID:35844135   PMID:35906200   PMID:35944360   PMID:36052865   PMID:36057605   PMID:36114006   PMID:36168627   PMID:36215168   PMID:36261009  
PMID:36282215   PMID:36424410   PMID:36517590   PMID:36526897   PMID:36584595   PMID:36604567   PMID:36931259   PMID:37010382   PMID:37059091   PMID:37071682   PMID:37086494   PMID:37100772  
PMID:37219487   PMID:37223481   PMID:37827155   PMID:37925421   PMID:38113892   PMID:38403678   PMID:38697112   PMID:38803224   PMID:38943005   PMID:39147351   PMID:39231216   PMID:39259704  


Genomics

Comparative Map Data
PDCD6IP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38333,798,630 - 33,869,703 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl333,798,571 - 33,869,707 (+)EnsemblGRCh38hg38GRCh38
GRCh37333,840,122 - 33,911,195 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36333,814,561 - 33,886,198 (+)NCBINCBI36Build 36hg18NCBI36
Build 34333,814,560 - 33,886,198NCBI
Celera333,783,127 - 33,854,073 (+)NCBICelera
Cytogenetic Map3p22.3NCBI
HuRef333,781,264 - 33,852,387 (+)NCBIHuRef
CHM1_1333,789,988 - 33,861,201 (+)NCBICHM1_1
T2T-CHM13v2.0333,799,362 - 33,870,437 (+)NCBIT2T-CHM13v2.0
Pdcd6ip
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399113,480,812 - 113,537,457 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl9113,480,812 - 113,537,327 (-)EnsemblGRCm39 Ensembl
GRCm389113,651,744 - 113,708,279 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9113,651,744 - 113,708,259 (-)EnsemblGRCm38mm10GRCm38
MGSCv379113,560,862 - 113,617,377 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv369113,503,631 - 113,556,805 (-)NCBIMGSCv36mm8
Celera9113,360,961 - 113,417,417 (-)NCBICelera
Cytogenetic Map9F3NCBI
cM Map964.03NCBI
Pdcd6ip
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr88122,469,223 - 122,524,993 (-)NCBIGRCr8
mRatBN7.28113,590,998 - 113,646,795 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl8113,590,998 - 113,646,773 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx8119,207,150 - 119,262,921 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.08117,406,414 - 117,462,188 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.08115,249,172 - 115,304,948 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.08121,916,233 - 121,973,145 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl8121,916,185 - 121,973,125 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.08121,231,793 - 121,287,105 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48118,314,910 - 118,350,134 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera8112,840,809 - 112,895,775 (-)NCBICelera
Cytogenetic Map8q32NCBI
Pdcd6ip
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554211,034,843 - 1,110,438 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554211,034,843 - 1,109,637 (+)NCBIChiLan1.0ChiLan1.0
PDCD6IP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2233,773,923 - 33,847,614 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1333,778,883 - 33,852,381 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0333,719,603 - 33,793,301 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1334,016,152 - 34,093,631 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl334,016,474 - 34,093,631 (+)Ensemblpanpan1.1panPan2
PDCD6IP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1234,112,299 - 4,199,230 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl234,112,363 - 4,196,342 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha234,154,337 - 4,240,985 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0234,374,570 - 4,462,420 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl234,374,544 - 4,462,418 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1234,207,505 - 4,294,589 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0234,339,176 - 4,426,011 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0234,308,530 - 4,395,465 (+)NCBIUU_Cfam_GSD_1.0
Pdcd6ip
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118190,870,278 - 190,948,263 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647324,010,935 - 24,086,846 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647324,010,942 - 24,086,836 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PDCD6IP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1319,597,059 - 19,665,996 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11319,597,064 - 19,664,047 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21321,193,109 - 21,243,506 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PDCD6IP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11578,265,099 - 78,339,307 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1578,265,252 - 78,339,873 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604151,646,595 - 51,721,427 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pdcd6ip
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478811,772,396 - 11,845,765 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478811,772,268 - 11,849,040 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PDCD6IP
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p22.3-22.2(chr3:32322382-36775606)x1 copy number loss See cases [RCV000051509] Chr3:32322382..36775606 [GRCh38]
Chr3:32363874..36817097 [GRCh37]
Chr3:32338878..36792101 [NCBI36]
Chr3:3p22.3-22.2		 pathogenic
GRCh38/hg38 3p22.3-22.2(chr3:33062199-36829440)x1 copy number loss See cases [RCV000051510] Chr3:33062199..36829440 [GRCh38]
Chr3:33103691..36870931 [GRCh37]
Chr3:33078695..36845935 [NCBI36]
Chr3:3p22.3-22.2		 pathogenic
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2		 pathogenic
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 copy number gain See cases [RCV000051720] Chr3:11463328..38919543 [GRCh38]
Chr3:11504802..38961034 [GRCh37]
Chr3:11479802..38936038 [NCBI36]
Chr3:3p25.3-22.2		 pathogenic
GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3 copy number gain See cases [RCV000134924] Chr3:33728406..40662451 [GRCh38]
Chr3:33769898..40703942 [GRCh37]
Chr3:33744902..40678946 [NCBI36]
Chr3:3p22.3-22.1		 pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1		 pathogenic
GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1 copy number loss See cases [RCV000240426] Chr3:29689082..34233218 [GRCh37]
Chr3:3p24.1-22.3		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
NM_013374.6(PDCD6IP):c.2455A>G (p.Met819Val) single nucleotide variant not specified [RCV004297232] Chr3:33866373 [GRCh38]
Chr3:33907865 [GRCh37]
Chr3:3p22.3		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_013374.6(PDCD6IP):c.2173C>G (p.Pro725Ala) single nucleotide variant not specified [RCV004304355] Chr3:33864058 [GRCh38]
Chr3:33905550 [GRCh37]
Chr3:3p22.3		 uncertain significance
GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3 copy number gain not provided [RCV000682249] Chr3:16923595..45249923 [GRCh37]
Chr3:3p24.3-21.31		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_013374.6(PDCD6IP):c.2178G>A (p.Ala726=) single nucleotide variant not provided [RCV000894231] Chr3:33864063 [GRCh38]
Chr3:33905555 [GRCh37]
Chr3:3p22.3		 likely benign
NM_013374.6(PDCD6IP):c.2333G>C (p.Gly778Ala) single nucleotide variant not provided [RCV000946720] Chr3:33865331 [GRCh38]
Chr3:33906823 [GRCh37]
Chr3:3p22.3		 benign
GRCh37/hg19 3p22.3(chr3:33693029-34652201)x1 copy number loss not provided [RCV001005422] Chr3:33693029..34652201 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.2367G>A (p.Thr789=) single nucleotide variant not provided [RCV000963815] Chr3:33865365 [GRCh38]
Chr3:33906857 [GRCh37]
Chr3:3p22.3		 benign
NM_013374.6(PDCD6IP):c.1393G>A (p.Asp465Asn) single nucleotide variant not specified [RCV004326503] Chr3:33844145 [GRCh38]
Chr3:33885637 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.2247T>C (p.Pro749=) single nucleotide variant not provided [RCV000881215] Chr3:33865245 [GRCh38]
Chr3:33906737 [GRCh37]
Chr3:3p22.3		 benign
NM_013374.6(PDCD6IP):c.1285G>A (p.Gly429Ser) single nucleotide variant not provided [RCV000958293] Chr3:33842000 [GRCh38]
Chr3:33883492 [GRCh37]
Chr3:3p22.3		 benign
NM_013374.6(PDCD6IP):c.61C>G (p.Leu21Val) single nucleotide variant not specified [RCV004308167] Chr3:33798789 [GRCh38]
Chr3:33840281 [GRCh37]
Chr3:3p22.3		 uncertain significance
GRCh37/hg19 3p22.3(chr3:32699328-35286114) copy number gain not specified [RCV002053338] Chr3:32699328..35286114 [GRCh37]
Chr3:3p22.3		 uncertain significance
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
NC_000003.11:g.(?_16710965)_(41275270_?)del deletion not provided [RCV001958625] Chr3:16710965..41275270 [GRCh37]
Chr3:3p24.3-22.1		 pathogenic
NM_013374.6(PDCD6IP):c.154_158dup (p.Val54fs) microsatellite Microcephaly 29, primary, autosomal recessive [RCV002285037] Chr3:33798874..33798875 [GRCh38]
Chr3:33840366..33840367 [GRCh37]
Chr3:3p22.3		 pathogenic
NM_013374.6(PDCD6IP):c.2155G>A (p.Ala719Thr) single nucleotide variant not specified [RCV004191075] Chr3:33864040 [GRCh38]
Chr3:33905532 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.2291C>T (p.Pro764Leu) single nucleotide variant not specified [RCV004146885] Chr3:33865289 [GRCh38]
Chr3:33906781 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.1985A>G (p.Asn662Ser) single nucleotide variant not specified [RCV004227653] Chr3:33853973 [GRCh38]
Chr3:33895465 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.1772A>G (p.Asp591Gly) single nucleotide variant not specified [RCV004193033] Chr3:33852618 [GRCh38]
Chr3:33894110 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.2177C>T (p.Ala726Val) single nucleotide variant not specified [RCV004095243] Chr3:33864062 [GRCh38]
Chr3:33905554 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.855A>C (p.Lys285Asn) single nucleotide variant not specified [RCV004156692] Chr3:33836064 [GRCh38]
Chr3:33877556 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.2329G>T (p.Val777Leu) single nucleotide variant not specified [RCV004214139] Chr3:33865327 [GRCh38]
Chr3:33906819 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.940G>A (p.Asp314Asn) single nucleotide variant not specified [RCV004109951] Chr3:33836149 [GRCh38]
Chr3:33877641 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.2405C>A (p.Pro802His) single nucleotide variant not specified [RCV004160866] Chr3:33865403 [GRCh38]
Chr3:33906895 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.1074G>A (p.Met358Ile) single nucleotide variant not specified [RCV004174746] Chr3:33838220 [GRCh38]
Chr3:33879712 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.1970C>T (p.Ala657Val) single nucleotide variant not specified [RCV004223297] Chr3:33853958 [GRCh38]
Chr3:33895450 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.232A>G (p.Ile78Val) single nucleotide variant not specified [RCV004345606] Chr3:33812094 [GRCh38]
Chr3:33853586 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.564T>G (p.Ser188Arg) single nucleotide variant not specified [RCV004342900] Chr3:33825288 [GRCh38]
Chr3:33866780 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.33G>T (p.Lys11Asn) single nucleotide variant not specified [RCV004361092] Chr3:33798761 [GRCh38]
Chr3:33840253 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.2393C>T (p.Ala798Val) single nucleotide variant not specified [RCV004345486] Chr3:33865391 [GRCh38]
Chr3:33906883 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.1279C>A (p.Gln427Lys) single nucleotide variant not specified [RCV004350424] Chr3:33841994 [GRCh38]
Chr3:33883486 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.529G>A (p.Val177Met) single nucleotide variant not specified [RCV004357321] Chr3:33825253 [GRCh38]
Chr3:33866745 [GRCh37]
Chr3:3p22.3		 uncertain significance
GRCh37/hg19 3p22.3(chr3:32324460-33982773)x3 copy number gain not provided [RCV003484125] Chr3:32324460..33982773 [GRCh37]
Chr3:3p22.3		 uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 copy number gain not specified [RCV003986437] Chr3:61891..33946644 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3 copy number gain not provided [RCV004577500] Chr3:60000..34461438 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NM_013374.6(PDCD6IP):c.1264A>G (p.Arg422Gly) single nucleotide variant not specified [RCV004502994] Chr3:33841979 [GRCh38]
Chr3:33883471 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.603A>T (p.Leu201Phe) single nucleotide variant not specified [RCV004503001] Chr3:33825327 [GRCh38]
Chr3:33866819 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.2591A>C (p.Tyr864Ser) single nucleotide variant not specified [RCV004503000] Chr3:33866509 [GRCh38]
Chr3:33908001 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.193C>A (p.Leu65Ile) single nucleotide variant not specified [RCV004502997] Chr3:33798921 [GRCh38]
Chr3:33840413 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.2191C>T (p.Pro731Ser) single nucleotide variant not specified [RCV004502998] Chr3:33864076 [GRCh38]
Chr3:33905568 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.79C>G (p.Gln27Glu) single nucleotide variant not specified [RCV004503003] Chr3:33798807 [GRCh38]
Chr3:33840299 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.1808A>G (p.Glu603Gly) single nucleotide variant not specified [RCV004502995] Chr3:33852654 [GRCh38]
Chr3:33894146 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.2534C>T (p.Pro845Leu) single nucleotide variant not specified [RCV004502999] Chr3:33866452 [GRCh38]
Chr3:33907944 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.1523A>G (p.Gln508Arg) single nucleotide variant not specified [RCV004653471] Chr3:33845470 [GRCh38]
Chr3:33886962 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.1683A>C (p.Glu561Asp) single nucleotide variant not specified [RCV004653472] Chr3:33852529 [GRCh38]
Chr3:33894021 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.2222C>G (p.Thr741Ser) single nucleotide variant not specified [RCV004653474] Chr3:33864107 [GRCh38]
Chr3:33905599 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.1840A>G (p.Lys614Glu) single nucleotide variant not specified [RCV004653475] Chr3:33852686 [GRCh38]
Chr3:33894178 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.2555C>T (p.Pro852Leu) single nucleotide variant not specified [RCV004653476] Chr3:33866473 [GRCh38]
Chr3:33907965 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.2207C>G (p.Ala736Gly) single nucleotide variant not specified [RCV004653477] Chr3:33864092 [GRCh38]
Chr3:33905584 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.2384C>T (p.Pro795Leu) single nucleotide variant not specified [RCV004659627] Chr3:33865382 [GRCh38]
Chr3:33906874 [GRCh37]
Chr3:3p22.3		 likely benign
NM_013374.6(PDCD6IP):c.1280A>G (p.Gln427Arg) single nucleotide variant not specified [RCV004659628] Chr3:33841995 [GRCh38]
Chr3:33883487 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.914A>T (p.Asn305Ile) single nucleotide variant not specified [RCV004653473] Chr3:33836123 [GRCh38]
Chr3:33877615 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.2390A>G (p.Gln797Arg) single nucleotide variant not specified [RCV004659629] Chr3:33865388 [GRCh38]
Chr3:33906880 [GRCh37]
Chr3:3p22.3		 uncertain significance
NM_013374.6(PDCD6IP):c.2543G>A (p.Gly848Glu) single nucleotide variant not specified [RCV004350677] Chr3:33866461 [GRCh38]
Chr3:33907953 [GRCh37]
Chr3:3p22.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3446
Count of miRNA genes:1175
Interacting mature miRNAs:1429
Transcripts:ENST00000307296, ENST00000412887, ENST00000413073, ENST00000430877, ENST00000435909, ENST00000457054, ENST00000459659, ENST00000465122, ENST00000473593, ENST00000477798, ENST00000482561, ENST00000484478, ENST00000487821, ENST00000489869, ENST00000494810, ENST00000495235, ENST00000498147
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407287184GWAS936160_Hbody height QTL GWAS936160 (human)5e-11body height (VT:0001253)body height (CMO:0000106)33382174333821744Human
406970169GWAS619145_Hprotein measurement QTL GWAS619145 (human)2e-24protein measurement33379957333799574Human
406984089GWAS633065_Hkidney cancer QTL GWAS633065 (human)0.0000007kidney cancer33380537133805372Human
407073608GWAS722584_HBMI-adjusted waist-hip ratio QTL GWAS722584 (human)5e-09BMI-adjusted waist-hip ratio33383129533831296Human
407254458GWAS903434_Hbrain measurement QTL GWAS903434 (human)4e-10brain measurementbrain measurement (CMO:0000911)33379957333799574Human
407079727GWAS728703_Hwaist-hip ratio QTL GWAS728703 (human)5e-08waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)33383129533831296Human
407069246GWAS718222_Hwaist-hip ratio QTL GWAS718222 (human)2e-09waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)33383129533831296Human
2316061GLUCO194_HGlucose level QTL 194 (human)0.02Glucose level32338077449380774Human

Markers in Region
STS-R60314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37333,910,934 - 33,911,175UniSTSGRCh37
Build 36333,885,938 - 33,886,179RGDNCBI36
Celera333,853,812 - 33,854,053RGD
Cytogenetic Map3p22.3UniSTS
HuRef333,852,122 - 33,852,363UniSTS
GeneMap99-GB4 RH Map3119.69UniSTS
NCBI RH Map3340.5UniSTS
RH93901  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37333,910,449 - 33,910,595UniSTSGRCh37
Build 36333,885,453 - 33,885,599RGDNCBI36
Celera333,853,327 - 33,853,473RGD
Cytogenetic Map3p22.3UniSTS
HuRef333,851,637 - 33,851,783UniSTS
GeneMap99-GB4 RH Map3121.79UniSTS
G43299  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37333,910,832 - 33,911,005UniSTSGRCh37
Build 36333,885,836 - 33,886,009RGDNCBI36
Celera333,853,710 - 33,853,883RGD
Cytogenetic Map3p22.3UniSTS
HuRef333,852,020 - 33,852,193UniSTS
SHGC-143660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371523,126,830 - 23,127,167UniSTSGRCh37
GRCh371529,065,535 - 29,065,872UniSTSGRCh37
Build 361520,678,271 - 20,678,608RGDNCBI36
Cytogenetic Map15q13.1UniSTS
HuRef333,839,314 - 33,839,651UniSTS
HuRef156,771,463 - 6,771,800UniSTS
HuRef151,436,069 - 1,436,406UniSTS
TNG Radiation Hybrid Map158495.0UniSTS
RH48396  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37333,909,331 - 33,909,517UniSTSGRCh37
Build 36333,884,335 - 33,884,521RGDNCBI36
Celera333,852,209 - 33,852,395RGD
Cytogenetic Map3p22.3UniSTS
HuRef333,850,519 - 33,850,705UniSTS
GeneMap99-GB4 RH Map3123.07UniSTS
NCBI RH Map3344.1UniSTS
A005P37  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37333,908,210 - 33,908,373UniSTSGRCh37
Build 36333,883,214 - 33,883,377RGDNCBI36
Celera333,851,088 - 33,851,251RGD
Cytogenetic Map3p22.3UniSTS
HuRef333,849,398 - 33,849,561UniSTS
GeneMap99-GB4 RH Map3116.16UniSTS
SHGC-76820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37333,838,938 - 33,839,077UniSTSGRCh37
Build 36333,813,942 - 33,814,081RGDNCBI36
Celera333,781,999 - 33,782,138RGD
Cytogenetic Map3p22.3UniSTS
HuRef333,780,139 - 33,780,278UniSTS
GeneMap99-GB4 RH Map3124.02UniSTS
NCBI RH Map3342.2UniSTS
Cda1ef02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37333,908,155 - 33,908,355UniSTSGRCh37
Build 36333,883,159 - 33,883,359RGDNCBI36
Celera333,851,033 - 33,851,233RGD
Cytogenetic Map3p22.3UniSTS
HuRef333,849,343 - 33,849,543UniSTS
GeneMap99-GB4 RH Map3124.02UniSTS
NCBI RH Map3342.2UniSTS
PDCD6IP_3260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37333,907,906 - 33,908,518UniSTSGRCh37
Build 36333,882,910 - 33,883,522RGDNCBI36
Celera333,850,784 - 33,851,396RGD
HuRef333,849,094 - 33,849,706UniSTS
G32258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37333,908,210 - 33,908,373UniSTSGRCh37
Celera333,851,088 - 33,851,251UniSTS
Cytogenetic Map3p22.3UniSTS
HuRef333,849,398 - 33,849,561UniSTS
D9S1961  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p22.3UniSTS
HuRef333,849,357 - 33,849,647UniSTS
Whitehead-YAC Contig Map3 UniSTS
GeneMap99-G3 RH Map31343.0UniSTS


Expression

RNA-SEQ Expression

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

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001162429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC123901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF250394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF349951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI346371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL695629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI492166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI562417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM669193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ024882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ895877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU165197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU194828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR739098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA149360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA652213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ131806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000307296   ⟹   ENSP00000307387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl333,798,630 - 33,869,703 (+)Ensembl
Ensembl Acc Id: ENST00000412887   ⟹   ENSP00000415150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl333,825,241 - 33,844,223 (+)Ensembl
Ensembl Acc Id: ENST00000413073   ⟹   ENSP00000406693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl333,798,623 - 33,825,334 (+)Ensembl
Ensembl Acc Id: ENST00000430877   ⟹   ENSP00000398895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl333,798,621 - 33,821,999 (+)Ensembl
Ensembl Acc Id: ENST00000435909   ⟹   ENSP00000393777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl333,798,611 - 33,825,248 (+)Ensembl
Ensembl Acc Id: ENST00000457054   ⟹   ENSP00000411825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl333,798,571 - 33,869,707 (+)Ensembl
Ensembl Acc Id: ENST00000459659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl333,821,973 - 33,826,877 (+)Ensembl
Ensembl Acc Id: ENST00000465122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl333,844,091 - 33,864,117 (+)Ensembl
Ensembl Acc Id: ENST00000473593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl333,863,896 - 33,866,468 (+)Ensembl
Ensembl Acc Id: ENST00000477798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl333,798,630 - 33,825,340 (+)Ensembl
Ensembl Acc Id: ENST00000482561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl333,827,580 - 33,836,172 (+)Ensembl
Ensembl Acc Id: ENST00000484478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl333,811,063 - 33,826,539 (+)Ensembl
Ensembl Acc Id: ENST00000487821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl333,828,481 - 33,838,241 (+)Ensembl
Ensembl Acc Id: ENST00000489869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl333,854,618 - 33,865,317 (+)Ensembl
Ensembl Acc Id: ENST00000494810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl333,813,277 - 33,825,325 (+)Ensembl
Ensembl Acc Id: ENST00000495235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl333,852,608 - 33,855,329 (+)Ensembl
Ensembl Acc Id: ENST00000498147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl333,798,940 - 33,822,032 (+)Ensembl
Ensembl Acc Id: ENST00000648706   ⟹   ENSP00000497537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl333,798,575 - 33,869,680 (+)Ensembl
RefSeq Acc Id: NM_001162429   ⟹   NP_001155901
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38333,798,630 - 33,869,703 (+)NCBI
GRCh37333,840,063 - 33,911,199 (+)NCBI
HuRef333,781,264 - 33,852,387 (+)NCBI
CHM1_1333,789,988 - 33,861,201 (+)NCBI
T2T-CHM13v2.0333,799,362 - 33,870,437 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256192   ⟹   NP_001243121
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38333,798,630 - 33,827,270 (+)NCBI
GRCh37333,840,063 - 33,911,199 (+)NCBI
HuRef333,781,264 - 33,852,387 (+)NCBI
CHM1_1333,789,988 - 33,818,758 (+)NCBI
T2T-CHM13v2.0333,799,362 - 33,828,003 (+)NCBI
Sequence:
RefSeq Acc Id: NM_013374   ⟹   NP_037506
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38333,798,630 - 33,869,703 (+)NCBI
GRCh37333,840,063 - 33,911,199 (+)NCBI
Build 36333,814,561 - 33,886,198 (+)NCBI Archive
HuRef333,781,264 - 33,852,387 (+)NCBI
CHM1_1333,789,988 - 33,861,201 (+)NCBI
T2T-CHM13v2.0333,799,362 - 33,870,437 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011533252   ⟹   XP_011531554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38333,798,963 - 33,869,703 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047447042   ⟹   XP_047302998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38333,798,963 - 33,869,703 (+)NCBI
RefSeq Acc Id: XM_054344819   ⟹   XP_054200794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0333,800,181 - 33,870,437 (+)NCBI
RefSeq Acc Id: NP_001155901   ⟸   NM_001162429
- Peptide Label: isoform 2
- UniProtKB: Q4W4Y1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_037506   ⟸   NM_013374
- Peptide Label: isoform 1
- UniProtKB: Q9P2H2 (UniProtKB/Swiss-Prot),   Q9NUN0 (UniProtKB/Swiss-Prot),   Q9BX86 (UniProtKB/Swiss-Prot),   Q6NUS1 (UniProtKB/Swiss-Prot),   E9PFU1 (UniProtKB/Swiss-Prot),   C5MQH7 (UniProtKB/Swiss-Prot),   Q9UKL5 (UniProtKB/Swiss-Prot),   Q8WUM4 (UniProtKB/Swiss-Prot),   Q4W4Y1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243121   ⟸   NM_001256192
- Peptide Label: isoform 3
- UniProtKB: A0A3B3IT07 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011531554   ⟸   XM_011533252
- Peptide Label: isoform X1
- UniProtKB: B4DHD2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000497537   ⟸   ENST00000648706
Ensembl Acc Id: ENSP00000307387   ⟸   ENST00000307296
Ensembl Acc Id: ENSP00000415150   ⟸   ENST00000412887
Ensembl Acc Id: ENSP00000406693   ⟸   ENST00000413073
Ensembl Acc Id: ENSP00000411825   ⟸   ENST00000457054
Ensembl Acc Id: ENSP00000398895   ⟸   ENST00000430877
Ensembl Acc Id: ENSP00000393777   ⟸   ENST00000435909
RefSeq Acc Id: XP_047302998   ⟸   XM_047447042
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200794   ⟸   XM_054344819
- Peptide Label: isoform X1
Protein Domains
BRO1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WUM4-F1-model_v2 AlphaFold Q8WUM4 1-868 view protein structure

Promoters
RGD ID:6863926
Promoter ID:EPDNEW_H5128
Type:initiation region
Name:PDCD6IP_2
Description:programmed cell death 6 interacting protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5129  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38333,798,343 - 33,798,403EPDNEW
RGD ID:6863928
Promoter ID:EPDNEW_H5129
Type:initiation region
Name:PDCD6IP_1
Description:programmed cell death 6 interacting protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5128  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38333,798,634 - 33,798,694EPDNEW
RGD ID:6801402
Promoter ID:HG_KWN:44300
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:ENST00000307296,   NR_027868,   OTTHUMT00000342072,   OTTHUMT00000342073,   OTTHUMT00000342075,   OTTHUMT00000342076,   OTTHUMT00000342078,   UC003CFY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36333,814,276 - 33,815,337 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8766 AgrOrtholog
COSMIC PDCD6IP COSMIC
Ensembl Genes ENSG00000170248 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000307296 ENTREZGENE
  ENST00000307296.8 UniProtKB/Swiss-Prot
  ENST00000412887.5 UniProtKB/TrEMBL
  ENST00000413073.1 UniProtKB/TrEMBL
  ENST00000430877.5 UniProtKB/TrEMBL
  ENST00000435909.5 UniProtKB/TrEMBL
  ENST00000457054 ENTREZGENE
  ENST00000457054.6 UniProtKB/Swiss-Prot
  ENST00000648706.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.280 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  alix/aip1 in complex with the ypdl late domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  alix/aip1 like domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000170248 GTEx
HGNC ID HGNC:8766 ENTREZGENE
Human Proteome Map PDCD6IP Human Proteome Map
InterPro ALIX_V_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BRO1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BRO1_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BRO1_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10015 UniProtKB/Swiss-Prot
NCBI Gene 10015 ENTREZGENE
OMIM 608074 OMIM
PANTHER PROGRAMMED CELL DEATH 6-INTERACTING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23030 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ALIX_LYPXL_bnd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BRO1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33116 PharmGKB
PRINTS PRICHEXTENSN UniProtKB/TrEMBL
PROSITE BRO1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BRO1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IT07 ENTREZGENE, UniProtKB/TrEMBL
  B4DHD2 ENTREZGENE, UniProtKB/TrEMBL
  C5MQH7 ENTREZGENE
  C9IZF9_HUMAN UniProtKB/TrEMBL
  E9PFU1 ENTREZGENE
  F8WBR8_HUMAN UniProtKB/TrEMBL
  F8WDK9_HUMAN UniProtKB/TrEMBL
  F8WEQ7_HUMAN UniProtKB/TrEMBL
  PDC6I_HUMAN UniProtKB/Swiss-Prot
  Q4W4Y1 ENTREZGENE, UniProtKB/TrEMBL
  Q6NUS1 ENTREZGENE
  Q8WUM4 ENTREZGENE
  Q9BX86 ENTREZGENE
  Q9NUN0 ENTREZGENE
  Q9P2H2 ENTREZGENE
  Q9UKL5 ENTREZGENE
UniProt Secondary C5MQH7 UniProtKB/Swiss-Prot
  E9PFU1 UniProtKB/Swiss-Prot
  Q6NUS1 UniProtKB/Swiss-Prot
  Q9BX86 UniProtKB/Swiss-Prot
  Q9NUN0 UniProtKB/Swiss-Prot
  Q9P2H2 UniProtKB/Swiss-Prot
  Q9UKL5 UniProtKB/Swiss-Prot