Property Summary

NCBI Gene PubMed Count 74
Grant Count 75
R01 Count 28
Funding $7,275,036.19
PubMed Score 141.19
PubTator Score 15.75

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
malignant mesothelioma 1.500 0.000
psoriasis 1.300 0.000
osteosarcoma -1.245 0.000
group 3 medulloblastoma 1.500 0.005

Synonym

Accession Q07864 Q13533 Q86VH9
Symbols FILS
POLE1
CRCS12

Gene

Gene RIF (55)

PMID Text
26748215 Mutations in POLE and POLD1 in south east Asia women with grade 3 endometrioid endometrial carcinomas are associated with improved recurrence free survival.
26493165 Study identified a high penetrant duplication in the regulatory region of GREM1, predisposing to colorectal cancer (CRC) in a family with attenuated/ atypical polyposis. A POLE variant was also identified in a patient with early onset CRC.
26271349 On the sequence, Escherichia coli oriC plasmid DNA, it was found hPold replicates DNA across the CCG repeats but hPole stalls at the CCG repeats even if the secondary structure is eliminated by a single stranded binding protein.
26251183 POLE mutations are associated with cutaneous melanoma.
26181000 Results show that that mutated POLE 1 are associated with high neoantigen loads and may be excellent candidates for PD-1-targeted immunotherapies.
26166557 Missense point mutations in POLE gene is associated with Ovarian Endometrioid Carcinoma.
25931171 POLE ultra-mutated-tumors are significantly more immunogenic when compared to POLE (-) tumors, in particular to the helper arm of the immune system.
25878334 POLE proofreading-mutant endometrial cancers are characterized by a robust intratumoral T-cell response, which correlates with, and may be caused by an enrichment of antigenic neopeptides
25860647 A novel c.1373A>T (p.Tyr458Phe)POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine.
25740784 Identified a genomically, histologically, and clinically distinct subgroup of high-grade gliomas that harbored somatic POLE mutations and carried an improved prognosis.
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AA Sequence

MSLRSGGRRRADPGADGEASRDDGATSSVSALKRLERSQWTDKMDLRFGFERLKEPGEKTGWLINMHPTE      1 - 70
ILDEDKRLGSAVDYYFIQDDGSRFKVALPYKPYFYIATRKGCEREVSSFLSKKFQGKIAKVETVPKEDLD     71 - 140
LPNHLVGLKRNYIRLSFHTVEDLVKVRKEISPAVKKNREQDHASDAYTALLSSVLQRGGVITDEEETSKK    141 - 210
IADQLDNIVDMREYDVPYHIRLSIDLKIHVAHWYNVRYRGNAFPVEITRRDDLVERPDPVVLAFDIETTK    211 - 280
LPLKFPDAETDQIMMISYMIDGQGYLITNREIVSEDIEDFEFTPKPEYEGPFCVFNEPDEAHLIQRWFEH    281 - 350
VQETKPTIMVTYNGDFFDWPFVEARAAVHGLSMQQEIGFQKDSQGEYKAPQCIHMDCLRWVKRDSYLPVG    351 - 420
SHNLKAAAKAKLGYDPVELDPEDMCRMATEQPQTLATYSVSDAVATYYLYMKYVHPFIFALCTIIPMEPD    421 - 490
EVLRKGSGTLCEALLMVQAFHANIIFPNKQEQEFNKLTDDGHVLDSETYVGGHVEALESGVFRSDIPCRF    491 - 560
RMNPAAFDFLLQRVEKTLRHALEEEEKVPVEQVTNFEEVCDEIKSKLASLKDVPSRIECPLIYHLDVGAM    561 - 630
YPNIILTNRLQPSAMVDEATCAACDFNKPGANCQRKMAWQWRGEFMPASRSEYHRIQHQLESEKFPPLFP    631 - 700
EGPARAFHELSREEQAKYEKRRLADYCRKAYKKIHITKVEERLTTICQRENSFYVDTVRAFRDRRYEFKG    701 - 770
LHKVWKKKLSAAVEVGDAAEVKRCKNMEVLYDSLQLAHKCILNSFYGYVMRKGARWYSMEMAGIVCFTGA    771 - 840
NIITQARELIEQIGRPLELDTDGIWCVLPNSFPENFVFKTTNVKKPKVTISYPGAMLNIMVKEGFTNDQY    841 - 910
QELAEPSSLTYVTRSENSIFFEVDGPYLAMILPASKEEGKKLKKRYAVFNEDGSLAELKGFEVKRRGELQ    911 - 980
LIKIFQSSVFEAFLKGSTLEEVYGSVAKVADYWLDVLYSKAANMPDSELFELISENRSMSRKLEDYGEQK    981 - 1050
STSISTAKRLAEFLGDQMVKDAGLSCRYIISRKPEGSPVTERAIPLAIFQAEPTVRKHFLRKWLKSSSLQ   1051 - 1120
DFDIRAILDWDYYIERLGSAIQKIITIPAALQQVKNPVPRVKHPDWLHKKLLEKNDVYKQKKISELFTLE   1121 - 1190
GRRQVTMAEASEDSPRPSAPDMEDFGLVKLPHPAAPVTVKRKRVLWESQEESQDLTPTVPWQEILGQPPA   1191 - 1260
LGTSQEEWLVWLRFHKKKWQLQARQRLARRKRQRLESAEGVLRPGAIRDGPATGLGSFLRRTARSILDLP   1261 - 1330
WQIVQISETSQAGLFRLWALVGSDLHCIRLSIPRVFYVNQRVAKAEEGASYRKVNRVLPRSNMVYNLYEY   1331 - 1400
SVPEDMYQEHINEINAELSAPDIEGVYETQVPLLFRALVHLGCVCVVNKQLVRHLSGWEAETFALEHLEM   1401 - 1470
RSLAQFSYLEPGSIRHIYLYHHAQAHKALFGIFIPSQRRASVFVLDTVRSNQMPSLGALYSAEHGLLLEK   1471 - 1540
VGPELLPPPKHTFEVRAETDLKTICRAIQRFLLAYKEERRGPTLIAVQSSWELKRLASEIPVLEEFPLVP   1541 - 1610
ICVADKINYGVLDWQRHGARRMIRHYLNLDTCLSQAFEMSRYFHIPIGNLPEDISTFGSDLFFARHLQRH   1611 - 1680
NHLLWLSPTARPDLGGKEADDNCLVMEFDDQATVEINSSGCYSTVCVELDLQNLAVNTILQSHHVNDMEG   1681 - 1750
ADSMGISFDVIQQASLEDMITGGQAASAPASYDETALCSNTFRILKSMVVGWVKEITQYHNIYADNQVMH   1751 - 1820
FYRWLRSPSSLLHDPALHRTLHNMMKKLFLQLIAEFKRLGSSVIYANFNRIILCTKKRRVEDAIAYVEYI   1821 - 1890
TSSIHSKETFHSLTISFSRCWEFLLWMDPSNYGGIKGKVSSRIHCGLQDSQKAGGAEDEQENEDDEEERD   1891 - 1960
GEEEEEAEESNVEDLLENNWNILQFLPQAASCQNYFLMIVSAYIVAVYHCMKDGLRRSAPGSTPVRRRGA   1961 - 2030
SQLSQEAEGAVGALPGMITFSQDYVANELTQSFFTITQKIQKKVTGSRNSTELSEMFPVLPGSHLLLNNP   2031 - 2100
ALEFIKYVCKVLSLDTNITNQVNKLNRDLLRLVDVGEFSEEAQFRDPCRSYVLPEVICRSCNFCRDLDLC   2101 - 2170
KDSSFSEDGAVLPQWLCSNCQAPYDSSAIEMTLVEVLQKKLMAFTLQDLVCLKCRGVKETSMPVYCSCAG   2171 - 2240
DFALTIHTQVFMEQIGIFRNIAQHYGMSYLLETLEWLLQKNPQLGH                           2241 - 2286
//

Text Mined References (78)

PMID Year Title
26748215 2016 Mutation spectrum of POLE and POLD1 mutations in South East Asian women presenting with grade 3 endometrioid endometrial carcinomas.
26493165 2016 GREM1 and POLE variants in hereditary colorectal cancer syndromes.
26271349 2015 Short CCG repeat in huntingtin gene is an obstacle for replicative DNA polymerases, potentially hampering progression of replication fork.
26251183 2015 POLE mutations in families predisposed to cutaneous melanoma.
26181000 2015 Association of Polymerase e-Mutated and Microsatellite-Instable Endometrial Cancers With Neoantigen Load, Number of Tumor-Infiltrating Lymphocytes, and Expression of PD-1 and PD-L1.
26166557 2015 Polymerase Epsilon Exonuclease Domain Mutations in Ovarian Endometrioid Carcinoma.
25931171 2015 Polymerase ? (POLE) ultra-mutated tumors induce robust tumor-specific CD4+ T cell responses in endometrial cancer patients.
25878334 2015 POLE Proofreading Mutations Elicit an Antitumor Immune Response in Endometrial Cancer.
25860647 2015 A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine.
25740784 2015 Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis.
More...