Property Summary

NCBI Gene PubMed Count 88
Grant Count 39
R01 Count 22
Funding $2,019,508.11
PubMed Score 147.98
PubTator Score 120.94

Knowledge Summary

Patent

No data available

Expression

Gene RIF (74)

PMID Text
26848006 Chronic myelomonocytic leukemia has an inherent tendency to transform to acute myeloid leukemia. Gene mutations involving ASXL1 are frequent and identified to have an independent negative prognostic effect on overall survival.
26771811 We confirm the negative prognostic impact imparted by ASXL1 mutations and suggest a favorable impact from TET2 mutations in the absence of ASXL1 mutations.
26768331 De novo mutation in ASXL1 gene is associated with Bohring-Opitz syndrome.
26739236 This study showed that the BAP1 C-terminal extension is important for H2A deubiquitination but needs to be activated by the DEUBAD domains of ASXL1 or its relatives.
26700326 the present results indicate that the truncating ASXL1 mutant is indeed expressed in MDS cells and may play a role in MDS pathogenesis not previously considered.
26623729 Correction of ASXL1 driver mutation in leukemia cells using CRISPR/Cas increases survival in vivo in mice.
26470845 Tumor suppressor ASXL1 is essential for the activation of INK4B expression in response to oncogene activity and anti-proliferative signals
26364555 Frameshift mutation in the ASXL1 gene is associated with Bohring-Opitz syndrome.
26095772 ASXL1 truncation mutations confer gain-of-function on the ASXL-BAP1 complex.
25921057 Somatic mutations in ASXL1 are associated with myeloid malignancies.
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AA Sequence

MKDKQKKKKERTWAEAARLVLENYSDAPMTPKQILQVIEAEGLKEMRSGTSPLACLNAMLHSNSRGGEGL      1 - 70
FYKLPGRISLFTLKKDALQWSRHPATVEGEEPEDTADVESCGSNEASTVSGENDVSLDETSSNASCSTES     71 - 140
QSRPLSNPRDSYRASSQANKQKKKTGVMLPRVVLTPLKVNGAHVESASGFSGCHADGESGSPSSSSSGSL    141 - 210
ALGSAAIRGQAEVTQDPAPLLRGFRKPATGQMKRNRGEEIDFETPGSILVNTNLRALINSRTFHALPSHF    211 - 280
QQQLLFLLPEVDRQVGTDGLLRLSSSALNNEFFTHAAQSWRERLADGEFTHEMQVRIRQEMEKEKKVEQW    281 - 350
KEKFFEDYYGQKLGLTKEESLQQNVGQEEAEIKSGLCVPGESVRIQRGPATRQRDGHFKKRSRPDLRTRA    351 - 420
RRNLYKKQESEQAGVAKDAKSVASDVPLYKDGEAKTDPAGLSSPHLPGTSSAAPDLEGPEFPVESVASRI    421 - 490
QAEPDNLARASASPDRIPSLPQETVDQEPKDQKRKSFEQAASASFPEKKPRLEDRQSFRNTIESVHTEKP    491 - 560
QPTKEEPKVPPIRIQLSRIKPPWVVKGQPTYQICPRIIPTTESSCRGWTGARTLADIKARALQVRGARGH    561 - 630
HCHREAATTAIGGGGGPGGGGGGATDEGGGRGSSSGDGGEACGHPEPRGGPSTPGKCTSDLQRTQLLPPY    631 - 700
PLNGEHTQAGTAMSRARREDLPSLRKEESCLLQRATVGLTDGLGDASQLPVAPTGDQPCQALPLLSSQTS    701 - 770
VAERLVEQPQLHPDVRTECESGTTSWESDDEEQGPTVPADNGPILSLVGDDTLEKGTGQALDSHPTMKDP    771 - 840
VNVTPSSTPESSPTDCLQNRAFDDELGLGGSCPPMRESDTRQENLKTKALVSNSSLHWIPIPSNDEVVKQ    841 - 910
PKPESREHIPSVEPQVGEEWEKAAPTPPALPGDLTAEEGLDPLDSLTSLWTVPSRGGSDSNGSYCQQVDI    911 - 980
EKLKINGDSEALSPHGESTDTASDFEGHLTEDSSEADTREAAVTKGSSVDKDEKPNWNQSAPLSKVNGDM    981 - 1050
RLVTRTDGMVAPQSWVSRVCAVRQKIPDSLLLASTEYQPRAVCLSMPGSSVEATNPLVMQLLQGSLPLEK   1051 - 1120
VLPPAHDDSMSESPQVPLTKDQSHGSLRMGSLHGLGKNSGMVDGSSPSSLRALKEPLLPDSCETGTGLAR   1121 - 1190
IEATQAPGAPQKNCKAVPSFDSLHPVTNPITSSRKLEEMDSKEQFSSFSCEDQKEVRAMSQDSNSNAAPG   1191 - 1260
KSPGDLTTSRTPRFSSPNVISFGPEQTGRALGDQSNVTGQGKKLFGSGNVAATLQRPRPADPMPLPAEIP   1261 - 1330
PVFPSGKLGPSTNSMSGGVQTPREDWAPKPHAFVGSVKNEKTFVGGPLKANAENRKATGHSPLELVGHLE   1331 - 1400
GMPFVMDLPFWKLPREPGKGLSEPLEPSSLPSQLSIKQAFYGKLSKLQLSSTSFNYSSSSPTFPKGLAGS   1401 - 1470
VVQLSHKANFGASHSASLSLQMFTDSSTVESISLQCACSLKAMIMCQGCGAFCHDDCIGPSKLCVLCLVV   1471 - 1540
R//

Text Mined References (93)

PMID Year Title
26848006 2016 Chronic Myelomonocytic Leukemia: Focus on Clinical Practice.
26771811 2016 Prognostic interaction between ASXL1 and TET2 mutations in chronic myelomonocytic leukemia.
26768331 2016 Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.
26739236 2016 BAP1/ASXL1 recruitment and activation for H2A deubiquitination.
26700326 2016 Truncation mutants of ASXL1 observed in myeloid malignancies are expressed at detectable protein levels.
26623729 2015 ASXL1 mutation correction by CRISPR/Cas9 restores gene function in leukemia cells and increases survival in mouse xenografts.
26470845 2015 Tumor suppressor ASXL1 is essential for the activation of INK4B expression in response to oncogene activity and anti-proliferative signals.
26364555 2015 Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.
26095772 2015 Cancer-associated ASXL1 mutations may act as gain-of-function mutations of the ASXL1-BAP1 complex.
25921057 2015 Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.
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