POLB (DNA polymerase beta) - Rat Genome Database

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Gene: POLB (DNA polymerase beta) Homo sapiens
Analyze
Symbol: POLB
Name: DNA polymerase beta
RGD ID: 736608
HGNC Page HGNC
Description: Enables several functions, including DNA-directed DNA polymerase activity; enzyme binding activity; and microtubule binding activity. Involved in base-excision repair. Located in cytoplasm; nucleus; and spindle microtubule. Part of protein-containing complex. Implicated in pancreatic cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DNA pol beta; DNA polymerase beta subunit; MGC125976; mutant DNA polymerase beta; polymerase (DNA directed), beta; polymerase (DNA) beta
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38842,338,494 - 42,371,808 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl842,338,454 - 42,371,808 (+)EnsemblGRCh38hg38GRCh38
GRCh37842,196,012 - 42,229,326 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36842,315,187 - 42,348,470 (+)NCBINCBI36hg18NCBI36
Build 34842,315,186 - 42,348,470NCBI
Celera841,140,732 - 41,174,028 (+)NCBI
Cytogenetic Map8p11.21NCBI
HuRef840,719,534 - 40,752,550 (+)NCBIHuRef
CHM1_1842,242,875 - 42,276,239 (+)NCBICHM1_1
T2T-CHM13v2.0842,608,570 - 42,642,104 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(15Z)-tetracosenoic acid  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
2'-deoxyadenosine  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
2-nitropropane  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroperoxycyclophosphamide  (ISO)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-chlorouracil  (EXP)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
all-trans-retinoic acid  (EXP)
Allylamine  (ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
azoxystrobin  (EXP)
benzo[a]pyrene  (ISO)
Benzo[ghi]perylene  (EXP)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
cadmium dichloride  (ISO)
capsaicin  (ISO)
chlorpyrifos  (EXP)
chromium atom  (EXP)
cisplatin  (ISO)
curcumin  (EXP)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
diamminedichloroplatinum  (ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diepoxybutane  (EXP)
dioxygen  (EXP)
ethene  (ISO)
flutamide  (ISO)
folic acid  (ISO)
Honokiol  (EXP)
iron atom  (EXP)
iron(0)  (EXP)
lithocholic acid  (ISO)
methyl methanesulfonate  (EXP)
mitomycin C  (ISO)
Myrtucommulone A  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
ochratoxin A  (ISO)
oxirane  (ISO)
paracetamol  (ISO)
paraquat  (EXP,ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP,ISO)
rotenone  (EXP,ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
Soman  (ISO)
tamoxifen  (ISO)
taurine  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
transplatin  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1408801   PMID:1511447   PMID:2040602   PMID:2423078   PMID:2460824   PMID:3182828   PMID:3284575   PMID:7545922   PMID:7705833   PMID:7914364   PMID:8125298   PMID:8168825  
PMID:8769567   PMID:8841118   PMID:8841119   PMID:8841120   PMID:8889548   PMID:8978692   PMID:9207062   PMID:9287163   PMID:9294209   PMID:9572863   PMID:10559261   PMID:10629618  
PMID:11163244   PMID:11242139   PMID:11250913   PMID:11467963   PMID:11756435   PMID:11805079   PMID:11827474   PMID:11909950   PMID:11912205   PMID:11923315   PMID:11955015   PMID:12063248  
PMID:12067997   PMID:12173936   PMID:12196536   PMID:12370169   PMID:12453427   PMID:12477932   PMID:12517346   PMID:12665521   PMID:14506279   PMID:14627836   PMID:14988403   PMID:15107487  
PMID:15145936   PMID:15260972   PMID:15314187   PMID:15342556   PMID:15367657   PMID:15489334   PMID:15520167   PMID:15548520   PMID:15561706   PMID:15601998   PMID:15725623   PMID:15731342  
PMID:15753095   PMID:15764500   PMID:15963946   PMID:16060670   PMID:16169070   PMID:16188889   PMID:16195237   PMID:16543152   PMID:16600869   PMID:16609022   PMID:17065437   PMID:17127106  
PMID:17131038   PMID:17173071   PMID:17176113   PMID:17203305   PMID:17209556   PMID:17283177   PMID:17286973   PMID:17321545   PMID:17355977   PMID:17526740   PMID:17855454   PMID:18006695  
PMID:18039710   PMID:18161950   PMID:18270339   PMID:18313385   PMID:18471977   PMID:18676680   PMID:18686630   PMID:18937502   PMID:19104052   PMID:19120024   PMID:19147782   PMID:19167932  
PMID:19170196   PMID:19237606   PMID:19329428   PMID:19330779   PMID:19336415   PMID:19339270   PMID:19536092   PMID:19625176   PMID:19635489   PMID:19692168   PMID:19713937   PMID:19747104  
PMID:19838217   PMID:19842163   PMID:20006562   PMID:20150366   PMID:20226869   PMID:20227374   PMID:20302655   PMID:20303835   PMID:20403997   PMID:20423048   PMID:20459144   PMID:20465217  
PMID:20496165   PMID:20519499   PMID:20522537   PMID:20526335   PMID:20574454   PMID:20805875   PMID:21107011   PMID:21305655   PMID:21362556   PMID:21733843   PMID:21739967   PMID:21757740  
PMID:21873635   PMID:21884718   PMID:22070286   PMID:22082156   PMID:22162999   PMID:22178760   PMID:22341651   PMID:22373917   PMID:22379092   PMID:22573322   PMID:22577134   PMID:22692827  
PMID:22799326   PMID:22901161   PMID:23013478   PMID:23098424   PMID:23101935   PMID:23117284   PMID:23144153   PMID:23144635   PMID:23144716   PMID:23585564   PMID:23602568   PMID:23749489  
PMID:23798703   PMID:23826138   PMID:23827680   PMID:23877444   PMID:23959474   PMID:24133209   PMID:24292625   PMID:24348210   PMID:24460306   PMID:24462520   PMID:24511902   PMID:24578379  
PMID:24668809   PMID:24911554   PMID:24966350   PMID:25015190   PMID:25184665   PMID:25200079   PMID:25237188   PMID:25260657   PMID:25261471   PMID:25281560   PMID:25378300   PMID:25416956  
PMID:25423885   PMID:25460917   PMID:25561897   PMID:25687118   PMID:25879709   PMID:25910212   PMID:26159783   PMID:26167925   PMID:26186194   PMID:26238022   PMID:26334617   PMID:26496610  
PMID:26527528   PMID:26760506   PMID:26917111   PMID:27488241   PMID:27546332   PMID:27569236   PMID:27848228   PMID:27906459   PMID:27956495   PMID:27992186   PMID:28005340   PMID:28065385  
PMID:28098985   PMID:28402499   PMID:28402631   PMID:28449123   PMID:28514442   PMID:28684413   PMID:28911106   PMID:28945359   PMID:28973450   PMID:28986522   PMID:29129598   PMID:29161447  
PMID:29524322   PMID:29625008   PMID:29668892   PMID:29957995   PMID:29968395   PMID:29987050   PMID:30068550   PMID:30085293   PMID:30239932   PMID:30299084   PMID:30554943   PMID:30649431  
PMID:30804502   PMID:30839203   PMID:30885943   PMID:31287140   PMID:31289286   PMID:31315781   PMID:31330087   PMID:31515488   PMID:31732732   PMID:31801827   PMID:31892517   PMID:31963223  
PMID:32622089   PMID:32647014   PMID:32780723   PMID:32814053   PMID:32853828   PMID:33087265   PMID:33087276   PMID:33314687   PMID:33397955   PMID:33673690   PMID:33961781   PMID:34111398  
PMID:34871863   PMID:35128818   PMID:35271311  


Genomics

Comparative Map Data
POLB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38842,338,494 - 42,371,808 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl842,338,454 - 42,371,808 (+)EnsemblGRCh38hg38GRCh38
GRCh37842,196,012 - 42,229,326 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36842,315,187 - 42,348,470 (+)NCBINCBI36hg18NCBI36
Build 34842,315,186 - 42,348,470NCBI
Celera841,140,732 - 41,174,028 (+)NCBI
Cytogenetic Map8p11.21NCBI
HuRef840,719,534 - 40,752,550 (+)NCBIHuRef
CHM1_1842,242,875 - 42,276,239 (+)NCBICHM1_1
T2T-CHM13v2.0842,608,570 - 42,642,104 (+)NCBI
Polb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39823,118,135 - 23,143,482 (-)NCBIGRCm39mm39
GRCm39 Ensembl823,118,142 - 23,143,451 (-)Ensembl
GRCm38822,628,119 - 22,653,464 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl822,628,126 - 22,653,435 (-)EnsemblGRCm38mm10GRCm38
MGSCv37823,738,591 - 23,763,909 (-)NCBIGRCm37mm9NCBIm37
MGSCv36824,093,810 - 24,118,959 (-)NCBImm8
Celera824,118,302 - 24,143,706 (-)NCBICelera
Cytogenetic Map8A2NCBI
cM Map811.42NCBI
Polb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21669,379,438 - 69,402,710 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1669,379,400 - 69,404,812 (+)Ensembl
Rnor_6.01674,237,001 - 74,260,272 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1674,237,001 - 74,260,271 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01673,869,828 - 73,893,106 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41673,864,702 - 73,888,011 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11673,864,971 - 73,890,378 (+)NCBI
Celera1667,272,411 - 67,295,648 (+)NCBICelera
Cytogenetic Map16q12.5NCBI
Polb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955536540,836 - 595,198 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955536542,179 - 595,198 (-)NCBIChiLan1.0ChiLan1.0
POLB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1839,026,991 - 39,060,464 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl839,026,991 - 39,060,464 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0841,582,370 - 41,615,950 (+)NCBIMhudiblu_PPA_v0panPan3
POLB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11623,306,359 - 23,335,352 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1623,306,367 - 23,335,322 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1623,810,815 - 23,839,790 (-)NCBI
ROS_Cfam_1.01625,054,877 - 25,083,907 (-)NCBI
ROS_Cfam_1.0 Ensembl1625,054,893 - 25,083,884 (-)Ensembl
UMICH_Zoey_3.11623,426,046 - 23,455,070 (-)NCBI
UNSW_CanFamBas_1.01623,988,955 - 24,018,019 (-)NCBI
UU_Cfam_GSD_1.01624,039,745 - 24,068,768 (-)NCBI
Polb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494346,368,259 - 46,394,119 (-)NCBI
SpeTri2.0NW_004936785324,655 - 350,496 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POLB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1711,356,129 - 11,388,821 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11711,356,130 - 11,388,122 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21713,109,577 - 13,131,807 (+)NCBISscrofa10.2Sscrofa10.2susScr3
POLB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1840,332,165 - 40,368,065 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl840,332,208 - 40,372,582 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660521,415,871 - 1,455,483 (-)NCBIVero_WHO_p1.0
Polb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624780884,896 - 941,587 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH25936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37842,229,203 - 42,229,323UniSTSGRCh37
Build 36842,348,360 - 42,348,480RGDNCBI36
Celera841,173,918 - 41,174,038RGD
Cytogenetic Map8p11.2UniSTS
HuRef840,752,422 - 40,752,542UniSTS
SGC31519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37842,229,174 - 42,229,300UniSTSGRCh37
Build 36842,348,331 - 42,348,457RGDNCBI36
Celera841,173,889 - 41,174,015RGD
Cytogenetic Map8p11.2UniSTS
HuRef840,752,393 - 40,752,519UniSTS
TNG Radiation Hybrid Map823088.0UniSTS
GeneMap99-GB4 RH Map8189.11UniSTS
Whitehead-RH Map8234.9UniSTS
NCBI RH Map8640.0UniSTS
D8S2287  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8p11.2UniSTS
D8S2288  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8p11.2UniSTS
D8S2289  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8p11.2UniSTS
D8S2290  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8p11.2UniSTS
D8S2286  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8p11.2UniSTS
GDB:384702  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8p11.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2162
Count of miRNA genes:838
Interacting mature miRNAs:962
Transcripts:ENST00000265421, ENST00000517393, ENST00000518579, ENST00000518925, ENST00000519094, ENST00000519524, ENST00000519771, ENST00000520008, ENST00000521290, ENST00000521418, ENST00000521492, ENST00000522297, ENST00000522610, ENST00000523465, ENST00000524208, ENST00000530566, ENST00000532157, ENST00000538005
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.


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
Medium 344 698 1031 207 1147 138 2999 903 2576 142 1348 1220 84 1 493 1930 3 2
Low 2095 2289 695 417 802 327 1358 1292 1158 277 112 393 91 711 858 3
Below cutoff 4 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_002690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_428311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC083973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF491812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM678092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP370570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D29013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ664683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ927442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX265963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX265964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX265965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX265966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX265967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX265968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX265969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX265970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX265971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX265972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX265973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX872513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L11607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S69873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265421   ⟹   ENSP00000265421
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl842,338,494 - 42,371,808 (+)Ensembl
RefSeq Acc Id: ENST00000517393   ⟹   ENSP00000428144
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl842,361,298 - 42,371,808 (+)Ensembl
RefSeq Acc Id: ENST00000518579   ⟹   ENSP00000430478
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl842,357,174 - 42,371,752 (+)Ensembl
RefSeq Acc Id: ENST00000518925   ⟹   ENSP00000430784
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl842,338,482 - 42,369,297 (+)Ensembl
RefSeq Acc Id: ENST00000519094
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl842,338,494 - 42,339,380 (+)Ensembl
RefSeq Acc Id: ENST00000519524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl842,355,459 - 42,361,712 (+)Ensembl
RefSeq Acc Id: ENST00000519771   ⟹   ENSP00000427799
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl842,338,605 - 42,369,329 (+)Ensembl
RefSeq Acc Id: ENST00000520008   ⟹   ENSP00000430610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl842,338,459 - 42,361,361 (+)Ensembl
RefSeq Acc Id: ENST00000521290   ⟹   ENSP00000429597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl842,349,039 - 42,371,808 (+)Ensembl
RefSeq Acc Id: ENST00000521418
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl842,369,607 - 42,371,808 (+)Ensembl
RefSeq Acc Id: ENST00000521492   ⟹   ENSP00000430831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl842,368,936 - 42,371,808 (+)Ensembl
RefSeq Acc Id: ENST00000522297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl842,338,494 - 42,349,289 (+)Ensembl
RefSeq Acc Id: ENST00000522610   ⟹   ENSP00000429436
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl842,338,507 - 42,371,765 (+)Ensembl
RefSeq Acc Id: ENST00000523465
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl842,357,198 - 42,357,942 (+)Ensembl
RefSeq Acc Id: ENST00000524208   ⟹   ENSP00000428578
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl842,344,960 - 42,369,988 (+)Ensembl
RefSeq Acc Id: ENST00000530566
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl842,338,494 - 42,340,147 (+)Ensembl
RefSeq Acc Id: ENST00000532157   ⟹   ENSP00000432084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl842,338,454 - 42,357,203 (+)Ensembl
RefSeq Acc Id: NM_002690   ⟹   NP_002681
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,338,494 - 42,371,808 (+)NCBI
GRCh37842,195,973 - 42,229,331 (+)NCBI
Build 36842,315,187 - 42,348,470 (+)NCBI Archive
HuRef840,719,534 - 40,752,550 (+)NCBI
CHM1_1842,242,875 - 42,276,239 (+)NCBI
T2T-CHM13v2.0842,608,570 - 42,642,104 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273535   ⟹   XP_005273592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,338,494 - 42,371,808 (+)NCBI
GRCh37842,195,973 - 42,229,331 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273536   ⟹   XP_005273593
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,338,494 - 42,371,808 (+)NCBI
GRCh37842,195,973 - 42,229,331 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273537   ⟹   XP_005273594
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,338,494 - 42,371,808 (+)NCBI
GRCh37842,195,973 - 42,229,331 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273538   ⟹   XP_005273595
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,338,494 - 42,371,808 (+)NCBI
GRCh37842,195,973 - 42,229,331 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273539   ⟹   XP_005273596
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,338,494 - 42,371,808 (+)NCBI
GRCh37842,195,973 - 42,229,331 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273540   ⟹   XP_005273597
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,338,494 - 42,371,808 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013583   ⟹   XP_016869072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,338,494 - 42,371,808 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013584   ⟹   XP_016869073
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,338,494 - 42,371,808 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047421900   ⟹   XP_047277856
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,349,016 - 42,371,808 (+)NCBI
RefSeq Acc Id: XM_047421901   ⟹   XP_047277857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,349,025 - 42,371,808 (+)NCBI
RefSeq Acc Id: XR_428311
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,338,494 - 42,362,632 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_002681 (Get FASTA)   NCBI Sequence Viewer  
  XP_005273592 (Get FASTA)   NCBI Sequence Viewer  
  XP_005273593 (Get FASTA)   NCBI Sequence Viewer  
  XP_005273594 (Get FASTA)   NCBI Sequence Viewer  
  XP_005273595 (Get FASTA)   NCBI Sequence Viewer  
  XP_005273596 (Get FASTA)   NCBI Sequence Viewer  
  XP_005273597 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869072 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869073 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277856 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277857 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA60133 (Get FASTA)   NCBI Sequence Viewer  
  AAA60134 (Get FASTA)   NCBI Sequence Viewer  
  AAB37517 (Get FASTA)   NCBI Sequence Viewer  
  AAB59441 (Get FASTA)   NCBI Sequence Viewer  
  AAB60688 (Get FASTA)   NCBI Sequence Viewer  
  AAD14051 (Get FASTA)   NCBI Sequence Viewer  
  AAI00289 (Get FASTA)   NCBI Sequence Viewer  
  AAI06910 (Get FASTA)   NCBI Sequence Viewer  
  AAL91594 (Get FASTA)   NCBI Sequence Viewer  
  AFI72772 (Get FASTA)   NCBI Sequence Viewer  
  BAA06099 (Get FASTA)   NCBI Sequence Viewer  
  BAD97257 (Get FASTA)   NCBI Sequence Viewer  
  BAG37475 (Get FASTA)   NCBI Sequence Viewer  
  BAH11651 (Get FASTA)   NCBI Sequence Viewer  
  CAA48603 (Get FASTA)   NCBI Sequence Viewer  
  CAG38741 (Get FASTA)   NCBI Sequence Viewer  
  CAG46601 (Get FASTA)   NCBI Sequence Viewer  
  EAW63221 (Get FASTA)   NCBI Sequence Viewer  
  P06746 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_002681   ⟸   NM_002690
- UniProtKB: P06746 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005273597   ⟸   XM_005273540
- Peptide Label: isoform X5
- UniProtKB: B7Z1W5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005273595   ⟸   XM_005273538
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_005273596   ⟸   XM_005273539
- Peptide Label: isoform X5
- UniProtKB: B7Z1W5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005273592   ⟸   XM_005273535
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005273593   ⟸   XM_005273536
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005273594   ⟸   XM_005273537
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016869072   ⟸   XM_017013583
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016869073   ⟸   XM_017013584
- Peptide Label: isoform X5
- UniProtKB: B7Z1W5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000428144   ⟸   ENST00000517393
RefSeq Acc Id: ENSP00000430784   ⟸   ENST00000518925
RefSeq Acc Id: ENSP00000430478   ⟸   ENST00000518579
RefSeq Acc Id: ENSP00000427799   ⟸   ENST00000519771
RefSeq Acc Id: ENSP00000432084   ⟸   ENST00000532157
RefSeq Acc Id: ENSP00000430610   ⟸   ENST00000520008
RefSeq Acc Id: ENSP00000429597   ⟸   ENST00000521290
RefSeq Acc Id: ENSP00000430831   ⟸   ENST00000521492
RefSeq Acc Id: ENSP00000429436   ⟸   ENST00000522610
RefSeq Acc Id: ENSP00000428578   ⟸   ENST00000524208
RefSeq Acc Id: ENSP00000265421   ⟸   ENST00000265421
RefSeq Acc Id: XP_047277856   ⟸   XM_047421900
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047277857   ⟸   XM_047421901
- Peptide Label: isoform X5
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P06746-F1-model_v2 AlphaFold P06746 1-335 view protein structure

Promoters
RGD ID:6806946
Promoter ID:HG_KWN:61209
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:ENST00000265421,   UC003XPA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36842,314,899 - 42,315,399 (+)MPROMDB
RGD ID:7213203
Promoter ID:EPDNEW_H12347
Type:initiation region
Name:POLB_1
Description:DNA polymerase beta
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
GRCh38842,338,494 - 42,338,554EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3 copy number gain See cases [RCV000050995] Chr8:29719897..48521849 [GRCh38]
Chr8:29577413..49434409 [GRCh37]
Chr8:29633332..49596962 [NCBI36]
Chr8:8p12-q11.21
pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1 copy number loss See cases [RCV000050745] Chr8:34312250..43158901 [GRCh38]
Chr8:34169768..43014044 [GRCh37]
Chr8:34289310..43133201 [NCBI36]
Chr8:8p12-11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p11.21(chr8:42037723-42900363)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052169]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052169]|See cases [RCV000052169] Chr8:42037723..42900363 [GRCh38]
Chr8:41895241..42755506 [GRCh37]
Chr8:42014398..42874663 [NCBI36]
Chr8:8p11.21
uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3 copy number gain See cases [RCV000053648] Chr8:37899430..42371734 [GRCh38]
Chr8:37756948..42229252 [GRCh37]
Chr8:37876106..42348409 [NCBI36]
Chr8:8p11.23-11.21
pathogenic
GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3 copy number gain See cases [RCV000053649] Chr8:39830633..49209461 [GRCh38]
Chr8:39688152..50122020 [GRCh37]
Chr8:39807309..50284573 [NCBI36]
Chr8:8p11.22-q11.21
pathogenic
GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3 copy number gain See cases [RCV000053650] Chr8:39981424..43532444 [GRCh38]
Chr8:39838943..43387587 [GRCh37]
Chr8:39958100..43506744 [NCBI36]
Chr8:8p11.21-11.1
pathogenic
GRCh38/hg38 8p11.21-q11.21(chr8:41547961-48178799)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053651]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053651]|See cases [RCV000053651] Chr8:41547961..48178799 [GRCh38]
Chr8:41405480..49091359 [GRCh37]
Chr8:41524637..49253912 [NCBI36]
Chr8:8p11.21-q11.21
pathogenic
GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3 copy number gain See cases [RCV000053652] Chr8:41845699..47893948 [GRCh38]
Chr8:41703217..48806508 [GRCh37]
Chr8:41822374..48969061 [NCBI36]
Chr8:8p11.21-q11.21
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_014420.2(DKK4):c.202G>A (p.Gly68Arg) single nucleotide variant Malignant melanoma [RCV000068319] Chr8:42375740 [GRCh38]
Chr8:42233258 [GRCh37]
Chr8:42352415 [NCBI36]
Chr8:8p11.21
not provided
NM_002690.2(POLB):c.708+174C>T single nucleotide variant Lung cancer [RCV000107384] Chr8:42362872 [GRCh38]
Chr8:42220390 [GRCh37]
Chr8:8p11.21
uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1
pathogenic
GRCh38/hg38 8p11.21(chr8:42236286-42758909)x1 copy number loss See cases [RCV000141648] Chr8:42236286..42758909 [GRCh38]
Chr8:42093804..42614052 [GRCh37]
Chr8:42212961..42733209 [NCBI36]
Chr8:8p11.21
likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3 copy number gain See cases [RCV000142663] Chr8:39960531..43673207 [GRCh38]
Chr8:39818050..43528350 [GRCh37]
Chr8:39937207..43647507 [NCBI36]
Chr8:8p11.21-11.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p11.21-11.1(chr8:40690198-43388233)x3 copy number gain See cases [RCV000446823] Chr8:40690198..43388233 [GRCh37]
Chr8:8p11.21-11.1
pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p11.21(chr8:42191238-42196523)x0 copy number loss not provided [RCV000747520] Chr8:42191238..42196523 [GRCh37]
Chr8:8p11.21
benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NC_000008.10:g.(?_42128869)_(43054732_?)dup duplication Severe combined immunodeficiency due to IKK2 deficiency [RCV000803272] Chr8:42128869..43054732 [GRCh37]
Chr8:8p11.21
uncertain significance
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3 copy number gain not provided [RCV000848822] Chr8:36094421..43822214 [GRCh37]
Chr8:8p12-11.1
uncertain significance
GRCh37/hg19 8p11.21(chr8:42143121-42353003)x3 copy number gain not provided [RCV001006100] Chr8:42143121..42353003 [GRCh37]
Chr8:8p11.21
uncertain significance
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormality of the fetal cardiovascular system [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p11.21-q11.21(chr8:42162574-48757095) copy number gain not specified [RCV002053760] Chr8:42162574..48757095 [GRCh37]
Chr8:8p11.21-q11.21
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9174 AgrOrtholog
COSMIC POLB COSMIC
Ensembl Genes ENSG00000070501 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000265421 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427799 UniProtKB/TrEMBL
  ENSP00000428144 UniProtKB/TrEMBL
  ENSP00000428578 UniProtKB/TrEMBL
  ENSP00000429436 UniProtKB/TrEMBL
  ENSP00000429597 UniProtKB/TrEMBL
  ENSP00000430478 UniProtKB/TrEMBL
  ENSP00000430610 UniProtKB/TrEMBL
  ENSP00000430784 UniProtKB/TrEMBL
  ENSP00000430831 UniProtKB/TrEMBL
  ENSP00000432084 UniProtKB/TrEMBL
Ensembl Transcript ENST00000265421 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000517393 UniProtKB/TrEMBL
  ENST00000518579 UniProtKB/TrEMBL
  ENST00000518925 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000519771 UniProtKB/TrEMBL
  ENST00000520008 UniProtKB/TrEMBL
  ENST00000521290 UniProtKB/TrEMBL
  ENST00000521492 UniProtKB/TrEMBL
  ENST00000522610 UniProtKB/TrEMBL
  ENST00000524208 UniProtKB/TrEMBL
  ENST00000532157 UniProtKB/TrEMBL
Gene3D-CATH 1.10.150.110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.210.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.460.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000070501 GTEx
HGNC ID HGNC:9174 ENTREZGENE
Human Proteome Map POLB Human Proteome Map
InterPro DNA-dir_DNA_pol_X UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_pol-X_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_pol_b-like_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_pol_B_palm_palm UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_pol_lambd_fingers_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_pol_lamdba_lyase_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_Pol_thumb_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_pol_X UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_pol_X_beta-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hlx-hairpin-Hlx_DNA-bd_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NT_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PolB_thumb UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5423 UniProtKB/Swiss-Prot
NCBI Gene 5423 ENTREZGENE
OMIM 174760 OMIM
PANTHER PTHR11276 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DNA_pol_B_palm UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_pol_B_thumb UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_pol_lambd_f UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HHH_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA276 PharmGKB, RGD
PRINTS DNAPOLX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNAPOLXBETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE DNA_POLYMERASE_X UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HhH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POLXc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47802 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81301 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7Z1W5 ENTREZGENE, UniProtKB/TrEMBL
  DPOLB_HUMAN UniProtKB/Swiss-Prot
  E5RG65_HUMAN UniProtKB/TrEMBL
  E5RHZ4_HUMAN UniProtKB/TrEMBL
  E5RIJ0_HUMAN UniProtKB/TrEMBL
  E5RJ55_HUMAN UniProtKB/TrEMBL
  E7EW18_HUMAN UniProtKB/TrEMBL
  E9PIC6_HUMAN UniProtKB/TrEMBL
  H0YAV8_HUMAN UniProtKB/TrEMBL
  H0YB29_HUMAN UniProtKB/TrEMBL
  H0YBJ0_HUMAN UniProtKB/TrEMBL
  H0YBX1_HUMAN UniProtKB/TrEMBL
  P06746 ENTREZGENE
UniProt Secondary B2RC78 UniProtKB/Swiss-Prot
  Q3KP48 UniProtKB/Swiss-Prot
  Q6FI34 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-19 POLB  DNA polymerase beta    polymerase (DNA) beta  Symbol and/or name change 5135510 APPROVED
2016-03-07 POLB  polymerase (DNA) beta    polymerase (DNA directed), beta  Symbol and/or name change 5135510 APPROVED