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          • › Hs05548979_cn
          See other RUNX1 CNV Assays ›
          Gene Symbol
          RUNX1
          Assay Reference Genome
          Location

          Chr.21:34798239 on build GRCh38
          Cytoband
          Assay ID Hs05548979_cn
          Size
          Availability Made To Order
          Catalog # 4400291
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          861

          Gene Name:

          RUNX family transcription factor 1

          Gene Aliases:

          AML1, AML1-EVI-1, AMLCR1, CBF2alpha, CBFA2, EVI-1, PEBP2aB, PEBP2alpha

          Location:

          Chr.21:34787801-35049302 on Build GRCh38

          Assay Gene Location:

          Within Intron 9
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          RUNX1 NM_001001890.3 NP_001001890.1
          NM_001754.5 NP_001745.2
          XM_005261068.4 XP_005261125.1
          XM_005261069.5 XP_005261126.1
          XM_011529766.3 XP_011528068.1
          XM_011529767.3 XP_011528069.1
          XM_011529768.3 XP_011528070.1
          XM_047441007.1 XP_047296963.1
          XM_047441009.1 XP_047296965.1
          XM_047441010.1 XP_047296966.1
          XM_047441011.1 XP_047296967.1
          XM_047441012.1 XP_047296968.1
          XM_047441013.1 XP_047296969.1
          XM_047441014.1 XP_047296970.1
          XM_047441015.1 XP_047296971.1
          AK226159.1
          AL581043.3
          BC136380.1 AAI36381.1
          BC136381.1 AAI36382.1
          BC144053.1 AAI44054.1
          D43968.1 BAA07903.1
          D43969.1 BAA07904.1
          D89788.1 BAA14020.1
          D89789.1 BAA14021.1
          D89790.1 BAA14022.1
          L34598.1 AAA51720.1
          X79549.1 CAA56092.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          esv3568160 Chr.21:34797680 - 34798922 on Build GRCh38 Loss RUNX1
          nsv5550749 Chr.21:34567808 - 34891808 on Build GRCh38 Duplication LINC00160 RUNX1 RCAN1 LINC01426 RUNX1-AS1 CLIC6
          nsv5539790 Chr.21:5227438 - 39583816 on Build GRCh38 Insertion KRTAP19-4 GABPA NCAM2 RNA18SN2 RNA5-8SN3 IGHV1OR21-1 HEMK2 KCNE1 SMIM34 TTC3-AS1 CLDN14 DNAJC28 KRTAP25-1 LINC00317 CH507-42P11.6 EVA1C ANKRD30BP2 MIR3156-3 GRIK1-AS2 MRPL39 MIR10396A LOC102724354 LINC01425 LINC00113 LINC01667 LOC100506403 PAXBP1 RNA28SN1 NRIP1 MIR802 SAMSN1 LINC03104 MIR6130 IL10RB-DT KRTAP19-2 BRWD1 LOC102723475 LOC124905049 KRTAP6-3 BACH1 JAM2 GRIK1-AS3 CBR1-AS1 LINC01689 ERG CHAF1B LINC00649 KRTAP19-3 CBR3-AS1 LINC01683 MIR6508 MRPS6 SYNJ1 LINC01690 KRTAP20-3 KCNJ6-AS1 MIR8069-1 SH3BGR SCAF4 LCA5L ABCC13 LIPI KCNJ6 MIR6724-1 KRTAP26-1 URB1 RNA5-8SN2 LINC02573 LOC101928398 KRTAP20-4 BACH1-IT3 TIAM1 LTN1 CXADR KRTAP19-1 CLDN17 URB1-AS1 USP25 GET1 SETD4-AS1 IFNGR2 ETS2 BRWD1-AS1 RNA45SN1 OLIG1 POTED C21orf140 LOC102723451 MEMO1P1 RCAN1 SNORD74B LINC00945 KCNJ15 TEKT4P2 MIR548XHG MIR3648-1 GET1-SH3BGR KRTAP20-2 NCOR1P4 TMEM50B LINC00314 RWDD2B LOC105372753 C21orf91-OT1 RNA28SN2 APP-DT EPCIP KCNE2 MIR99A RIPPLY3 DSCR8 LOC105372793 KRTAP21-2 HLCS TTC3 ANKRD20A11P LOC107983987 SAMSN1-AS1 DOP1B LINC01426 CYYR1-AS1 LINC01548 RNA18SN3 LOC105372791 HLCS-AS1 LOC101928269 RNA45SN3 RNA5-8SN1 LOC101927345 PPP1R2P2 IFNAR1 KRTAP22-2 LOC102724334 LOC101928126 MAP3K7CL KRTAP23-1 SMIM11 RUNX1 IFNAR2 HUNK KRTAP19-8 DSCR4 KRTAP19-5 CLIC6 LINC00114 LINC00160 LINC00307 CCT8 MIR155HG DSCR10 KRTAP6-2 MORC3 KRTAP21-3 KRTAP20-1 KRTAP6-1 LINC00161 LOC110091777 SLC5A3 ETS2-AS1 LOC102724428 LINC01695 LOC100288590 BACH1-IT2 OLIG2 LOC105379514 BTG3 KRTAP24-1 MIRLET7C LOC124905050 KRTAP22-1 MIR6501 SETD4 PIGP RUNX1-IT1 SIM2 DSCR9 IFNAR2-IL10RB LOC102723360 LINC01674 MRAP-AS1 GRIK1 LINC01673 ATP5PO HMGN1 VPS26C GART CHODL DYRK1A CLDN14-AS1 PSMG1 CYP4F29P MIR3648-2 LINC02943 PAXBP1-AS1 SON SNORA80A HSPA13 MIR4759 ADAMTS1 TIAM1-AS1 ATP5PF LINC03147 LINC00308 BAGE2 LOC106780825 LOC102724594 KRTAP8-1 APP LINC00189 KRTAP11-1 ASMER1 CBR1 MIR125B2 KRTAP15-1 LINC00158 LOC105369308 MRAP MIR6724-3 KRTAP13-4 CRYZL1 RBM11 LOC101930100 RPL23P2 LOC110091776 LOC101927745 DONSON CFAP298 ADAMTS5 SOD1 LOC107987288 LINC01687 RUNX1-AS1 CLDN8 LINC01549 MIR10396B KRTAP13-3 GRIK1-AS1 LINC03105 LINC00159 LINC00310 KRTAP19-7 LOC102724560 C21orf91 LOC105377134 LINC00320 LINC01684 TCP10L LINC00515 LINC01423 LOC105379499 LOC101928107 BRWD1-AS2 IL10RB KRTAP13-2 LOC105379504 KRTAP19-6 D21S2088E ITSN1 CYYR1 LOC105369306 MIS18A LINC01692 CBR3 MIR155 LINC01436 USP16 MIR8069 EPCIP-AS1 LOC102724652 MIR6724-2 LOC102724843 LOC105372762 LINC01700 LOC102723553 SOD1-DT TPTE MIR99AHG MIR6724-4 RNA45SN2 KRTAP21-1 CFAP298-TCP10L KRTAP13-1 MIR4327 TMPRSS15 RNA28SN3 KRTAP27-1 LINC02920 BTG3-AS1 RNA18SN1 MIS18A-AS1 LINC01697 MIR3118-1 KRTAP7-1 LINC01666 MIR548X

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          negative regulation of transcription from RNA polymerase II promoter
          ossification
          chondrocyte differentiation
          myeloid leukocyte differentiation
          regulation of transcription, DNA-templated
          regulation of transcription from RNA polymerase II promoter
          regulation of plasminogen activation
          hemopoiesis
          myeloid cell differentiation
          neuron differentiation
          negative regulation of granulocyte differentiation
          positive regulation of granulocyte differentiation
          positive regulation of interleukin-2 production
          positive regulation of collagen biosynthetic process
          negative regulation of CD4-positive, alpha-beta T cell differentiation
          positive regulation of CD8-positive, alpha-beta T cell differentiation
          regulation of cell differentiation
          positive regulation of angiogenesis
          positive regulation of transcription, DNA-templated
          positive regulation of transcription from RNA polymerase II promoter
          peripheral nervous system neuron development
          positive regulation of developmental process
          positive regulation of multicellular organismal process
          regulation of cardiac muscle cell proliferation
          cardiac muscle tissue regeneration
          hematopoietic stem cell proliferation
          positive regulation of extracellular matrix organization
          regulation of connective tissue replacement
          regulation of multicellular organismal development
          transcription regulatory region sequence-specific DNA binding
          RNA polymerase II regulatory region sequence-specific DNA binding
          RNA polymerase II core promoter proximal region sequence-specific DNA binding
          RNA polymerase II transcription factor activity, sequence-specific DNA binding
          transcription corepressor binding
          transcription coactivator binding
          transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
          DNA binding
          transcription factor activity, sequence-specific DNA binding
          calcium ion binding
          protein binding
          ATP binding
          protein homodimerization activity
          protein heterodimerization activity
          DNA-binding transcription factor binding
          sequence-specific double-stranded DNA binding

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