Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000334418 [[118868851, 118869027], [118869139, 118869303], [118869720, 118869819], [118881473, 118881540], [118881930, 118881993], [118882648, 118882713], [118882858, 118882964], [118883941, 118883972], [118885703, 118885793], [118886016, 118886149], [118886247, 118886455]] [[118868907, 118869027], [118869139, 118869303], [118869720, 118869819], [118881473, 118881540], [118881930, 118881993], [118882648, 118882713], [118882858, 118882964], [118883941, 118883972], [118885703, 118885793], [118886016, 118886149], [118886247, 118886308]]
ENST00000524670 [[118868854, 118869303], [118869720, 118869819], [118881473, 118881540], [118881930, 118882021], [118882648, 118882713], [118882858, 118882972]] None
ENST00000526463 [[118868864, 118869027], [118869139, 118869303], [118869720, 118869819], [118872322, 118872535], [118881473, 118881540], [118881930, 118882021], [118882648, 118882713], [118882858, 118882964], [118885703, 118885793], [118886016, 118886149], [118886247, 118886351]] [[118868907, 118869027], [118869139, 118869303], [118869720, 118869819], [118872322, 118872386]]
ENST00000532132 [[118868877, 118869027], [118869139, 118869303], [118869720, 118869819], [118881473, 118881540], [118881930, 118882021], [118882648, 118882713], [118882858, 118882964], [118883941, 118883972], [118885703, 118885793], [118885997, 118886149], [118886247, 118886351]] [[118868907, 118869027], [118869139, 118869303], [118869720, 118869819], [118881473, 118881540], [118881930, 118882021], [118882648, 118882692]]
ENST00000580556 [[118869750, 118869819], [118881473, 118881540], [118881930, 118882021], [118882648, 118882713], [118882858, 118882964], [118883941, 118883972], [118884923, 118885056]] None
ENST00000528088 [[118880243, 118881540], [118881930, 118882021], [118882648, 118882713], [118882858, 118882887]] None
ENST00000583842 [[118881916, 118882021], [118882648, 118882964], [118883941, 118883972], [118885703, 118885802]] None
ENST00000534656 [[118868884, 118869027], [118869139, 118869303], [118869720, 118870001]] None
ENST00000527356 [[118882668, 118883972], [118885703, 118885793], [118886016, 118886149], [118886247, 118886501]] None
ENST00000533787 [[118884775, 118885793], [118886016, 118886138]] None
NM_198489 [[118868842, 118869027], [118869139, 118869303], [118869720, 118869819], [118881473, 118881540], [118881930, 118881993], [118882648, 118882713], [118882858, 118882964], [118883941, 118883972], [118885703, 118885793], [118886016, 118886149], [118886247, 118886503]] [[118868907, 118869027], [118869139, 118869303], [118869720, 118869819], [118881473, 118881540], [118881930, 118881993], [118882648, 118882713], [118882858, 118882964], [118883941, 118883972], [118885703, 118885793], [118886016, 118886149], [118886247, 118886308]]
NR_104049 [[118868842, 118869027], [118869139, 118869303], [118869720, 118869819], [118881473, 118881540], [118881930, 118882021], [118882648, 118882713], [118882858, 118882964], [118883941, 118883972], [118885703, 118885793], [118886016, 118886149], [118886247, 118886503]] None
NR_104050 [[118868842, 118869027], [118869139, 118869303], [118869720, 118869819], [118881473, 118881540], [118881930, 118882021], [118882648, 118882713], [118882858, 118882964], [118883941, 118883972], [118885703, 118885793], [118885997, 118886149], [118886247, 118886503]] None
NR_104051 [[118868842, 118869027], [118869139, 118869303], [118869720, 118869819], [118872322, 118872535], [118881473, 118881540], [118881930, 118882021], [118882648, 118882713], [118882858, 118882964], [118885703, 118885793], [118886016, 118886149], [118886247, 118886503]] None
Promoter
Chrom Start End Description
chr11 118868756 118868770 CAGE_peak_2_at_CCDC84_5end
chr11 118868771 118868784 CAGE_peak_3_at_CCDC84_5end
chr11 118868830 118868904 CAGE_peak_1_at_CCDC84_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I118309 118309617 118320584 1.68 [{'connected_gene': 'UBE4A', 'score': 25.69}, {'connected_gene': 'CD3G', 'score': 17.57}, {'connected_gene': 'CD3D', 'score': 17.01}, {'connected_gene': 'ARCN1', 'score': 16.58}, {'connected_gene': 'MPZL3', 'score': 15.02}, {'connected_gene': 'ENSG00000254909', 'score': 14.61}, {'connected_gene': 'KMT2A', 'score': 12.85}, {'connected_gene': 'RPL23AP64', 'score': 12.8}, {'connected_gene': 'DPAGT1', 'score': 12.72}, {'connected_gene': 'ENSG00000254428', 'score': 12.68}, {'connected_gene': 'BCL9L', 'score': 11.25}, {'connected_gene': 'CD3E', 'score': 10.8}, {'connected_gene': 'RPS25', 'score': 10.29}, {'connected_gene': 'ENSG00000255384', 'score': 10.14}, {'connected_gene': 'CCDC84', 'score': 10.03}, {'connected_gene': 'HMBS', 'score': 5.0}, {'connected_gene': 'ENSG00000271751', 'score': 4.84}, {'connected_gene': 'IFT46', 'score': 4.79}, {'connected_gene': 'DDX6', 'score': 1.86}, {'connected_gene': 'ENSG00000254992', 'score': 0.44}]
chr11 GH11I118303 118303186 118309022 1.42 [{'connected_gene': 'CD3E', 'score': 558.18}, {'connected_gene': 'ENSG00000254909', 'score': 16.14}, {'connected_gene': 'UBE4A', 'score': 15.56}, {'connected_gene': 'MPZL3', 'score': 14.89}, {'connected_gene': 'RPL23AP64', 'score': 14.47}, {'connected_gene': 'ENSG00000254428', 'score': 13.01}, {'connected_gene': 'ARCN1', 'score': 11.1}, {'connected_gene': 'CCDC84', 'score': 10.97}, {'connected_gene': 'BCL9L', 'score': 10.13}, {'connected_gene': 'ENSG00000271751', 'score': 4.51}, {'connected_gene': 'ENSG00000254992', 'score': 0.37}]
chr11 GH11I118904 118904309 118905535 0.2 [{'connected_gene': 'UPK2', 'score': 12.33}, {'connected_gene': 'FOXR1', 'score': 12.19}, {'connected_gene': 'ENSG00000222529', 'score': 12.19}, {'connected_gene': 'CCDC84', 'score': 11.35}, {'connected_gene': 'ENSG00000255121', 'score': 11.34}, {'connected_gene': 'HMBS', 'score': 10.18}, {'connected_gene': 'H2AFX', 'score': 10.17}, {'connected_gene': 'C2CD2L', 'score': 10.16}, {'connected_gene': 'DPAGT1', 'score': 10.16}, {'connected_gene': 'TRAPPC4', 'score': 4.79}, {'connected_gene': 'GC11P118898', 'score': 0.44}, {'connected_gene': 'MIR4492', 'score': 0.44}, {'connected_gene': 'BCL9L', 'score': 0.34}]
chr11 GH11I118903 118903103 118904272 0.2 [{'connected_gene': 'UPK2', 'score': 12.33}, {'connected_gene': 'FOXR1', 'score': 12.19}, {'connected_gene': 'ENSG00000222529', 'score': 12.19}, {'connected_gene': 'CCDC84', 'score': 11.34}, {'connected_gene': 'ENSG00000255121', 'score': 11.34}, {'connected_gene': 'HMBS', 'score': 10.17}, {'connected_gene': 'H2AFX', 'score': 10.17}, {'connected_gene': 'C2CD2L', 'score': 10.16}, {'connected_gene': 'DPAGT1', 'score': 10.16}, {'connected_gene': 'GC11P118898', 'score': 0.44}, {'connected_gene': 'MIR4492', 'score': 0.44}, {'connected_gene': 'BCL9L', 'score': 0.34}]
chr11 GH11I118872 118872208 118873207 1.28 [{'connected_gene': 'UPK2', 'score': 11.27}, {'connected_gene': 'BCL9L', 'score': 11.03}, {'connected_gene': 'RN7SL688P', 'score': 11.02}, {'connected_gene': 'PHLDB1', 'score': 9.36}, {'connected_gene': 'TREH', 'score': 6.26}, {'connected_gene': 'CXCR5', 'score': 4.62}, {'connected_gene': 'ATP5MG', 'score': 4.06}, {'connected_gene': 'KMT2A', 'score': 3.98}, {'connected_gene': 'CCDC84', 'score': 3.96}, {'connected_gene': 'RPS25', 'score': 2.93}, {'connected_gene': 'DDX6', 'score': 2.47}, {'connected_gene': 'VPS11', 'score': 2.46}, {'connected_gene': 'H2AFX', 'score': 1.47}, {'connected_gene': 'ENSG00000201535', 'score': 0.28}]
chr11 GH11I118882 118882579 118886200 1.78 [{'connected_gene': 'CXCR5', 'score': 583.07}, {'connected_gene': 'TREHP1', 'score': 4.44}, {'connected_gene': 'RPS25', 'score': 3.5}, {'connected_gene': 'KMT2A', 'score': 3.49}, {'connected_gene': 'DDX6', 'score': 3.31}, {'connected_gene': 'CCDC84', 'score': 2.88}, {'connected_gene': 'ATP5MG', 'score': 2.8}, {'connected_gene': 'VPS11', 'score': 2.22}, {'connected_gene': 'ARCN1', 'score': 1.23}, {'connected_gene': 'ENSG00000245869', 'score': 0.77}]
chr11 GH11I118571 118571329 118574201 2.01 [{'connected_gene': 'IFT46', 'score': 577.84}, {'connected_gene': 'ARCN1', 'score': 550.77}, {'connected_gene': 'RPL5P30', 'score': 16.52}, {'connected_gene': 'KMT2A', 'score': 12.13}, {'connected_gene': 'CCDC84', 'score': 11.75}, {'connected_gene': 'VPS11', 'score': 11.37}, {'connected_gene': 'ENSG00000255121', 'score': 11.33}, {'connected_gene': 'HINFP', 'score': 10.97}, {'connected_gene': 'HMBS', 'score': 4.9}]
chr11 GH11I119015 119015746 119020375 2.06 [{'connected_gene': 'TRAPPC4', 'score': 622.84}, {'connected_gene': 'RPS25', 'score': 550.77}, {'connected_gene': 'MIR3656', 'score': 550.77}, {'connected_gene': 'PIR32149', 'score': 550.77}, {'connected_gene': 'PIR60932', 'score': 550.77}, {'connected_gene': 'GC11P119045', 'score': 550.77}, {'connected_gene': 'BCL9L', 'score': 22.3}, {'connected_gene': 'ARCN1', 'score': 19.32}, {'connected_gene': 'ENSG00000254909', 'score': 14.9}, {'connected_gene': 'UBE4A', 'score': 13.17}, {'connected_gene': 'RPL23AP64', 'score': 12.93}, {'connected_gene': 'ENSG00000254428', 'score': 11.42}, {'connected_gene': 'FOXR1', 'score': 11.2}, {'connected_gene': 'ENSG00000222529', 'score': 11.2}, {'connected_gene': 'UPK2', 'score': 11.11}, {'connected_gene': 'RNF26', 'score': 10.29}, {'connected_gene': 'RN7SL688P', 'score': 10.24}, {'connected_gene': 'CXCR5', 'score': 10.19}, {'connected_gene': 'ENSG00000245869', 'score': 10.19}, {'connected_gene': 'CCDC84', 'score': 0.34}]
chr11 GH11I119016 119015391 119015540 0.57 [{'connected_gene': 'TRAPPC4', 'score': 73.38}, {'connected_gene': 'ENSG00000254909', 'score': 0.44}, {'connected_gene': 'CCDC84', 'score': 0.34}]
chr11 GH11I118433 118433976 118442200 2.7 [{'connected_gene': 'KMT2A', 'score': 561.41}, {'connected_gene': 'VPS11', 'score': 31.7}, {'connected_gene': 'TMEM25', 'score': 23.66}, {'connected_gene': 'IFT46', 'score': 19.63}, {'connected_gene': 'ARCN1', 'score': 19.21}, {'connected_gene': 'HINFP', 'score': 19.15}, {'connected_gene': 'THY1', 'score': 12.58}, {'connected_gene': 'CCDC84', 'score': 10.81}, {'connected_gene': 'LOC101929089', 'score': 10.61}, {'connected_gene': 'ENSG00000254873', 'score': 10.6}, {'connected_gene': 'ATP5MG', 'score': 10.6}, {'connected_gene': 'FXYD6', 'score': 10.18}, {'connected_gene': 'DSCAML1', 'score': 9.93}, {'connected_gene': 'CCDC153', 'score': 5.08}, {'connected_gene': 'ENSG00000255384', 'score': 0.77}, {'connected_gene': 'GC11M118474', 'score': 0.28}]
chr11 GH11I118996 118996434 118999681 2.03 [{'connected_gene': 'CCDC84', 'score': 550.77}, {'connected_gene': 'ENSG00000255121', 'score': 550.77}, {'connected_gene': 'TRAPPC4', 'score': 63.51}, {'connected_gene': 'GC11P119002', 'score': 0.77}]
chr11 GH11I119090 119090741 119096602 2.5 [{'connected_gene': 'H2AFX', 'score': 550.77}, {'connected_gene': 'GC11M119097', 'score': 550.77}, {'connected_gene': 'KMT2A', 'score': 73.28}, {'connected_gene': 'HINFP', 'score': 65.6}, {'connected_gene': 'UBE4A', 'score': 58.73}, {'connected_gene': 'ARCN1', 'score': 52.05}, {'connected_gene': 'BCL9L', 'score': 50.4}, {'connected_gene': 'RPL5P30', 'score': 49.27}, {'connected_gene': 'ENSG00000254909', 'score': 39.2}, {'connected_gene': 'CCDC84', 'score': 38.84}, {'connected_gene': 'VPS11', 'score': 37.04}, {'connected_gene': 'IFT46', 'score': 36.17}, {'connected_gene': 'RPL23AP64', 'score': 33.81}, {'connected_gene': 'ENSG00000254428', 'score': 32.02}, {'connected_gene': 'RPS25', 'score': 30.38}, {'connected_gene': 'DPAGT1', 'score': 29.33}, {'connected_gene': 'RNF26', 'score': 22.29}, {'connected_gene': 'C2CD2L', 'score': 15.2}, {'connected_gene': 'MPZL2', 'score': 13.97}, {'connected_gene': 'HMBS', 'score': 12.16}, {'connected_gene': 'ENSG00000245869', 'score': 11.94}, {'connected_gene': 'DDX6', 'score': 11.24}, {'connected_gene': 'ENSG00000271751', 'score': 6.77}]
chr11 GH11I118906 118906480 118931105 2.88 [{'connected_gene': 'BCL9L', 'score': 577.01}, {'connected_gene': 'DPAGT1', 'score': 32.47}, {'connected_gene': 'UBE4A', 'score': 28.16}, {'connected_gene': 'ENSG00000254909', 'score': 28.08}, {'connected_gene': 'RPL23AP64', 'score': 25.24}, {'connected_gene': 'ARCN1', 'score': 24.99}, {'connected_gene': 'ENSG00000254428', 'score': 23.08}, {'connected_gene': 'RNF26', 'score': 19.84}, {'connected_gene': 'CCDC84', 'score': 16.8}, {'connected_gene': 'KMT2A', 'score': 15.66}, {'connected_gene': 'CXCR5', 'score': 15.27}, {'connected_gene': 'MPZL2', 'score': 13.97}, {'connected_gene': 'DDX6', 'score': 13.42}, {'connected_gene': 'RPS25', 'score': 13.01}, {'connected_gene': 'VPS11', 'score': 12.54}, {'connected_gene': 'HMBS', 'score': 12.4}, {'connected_gene': 'ENSG00000222529', 'score': 12.22}, {'connected_gene': 'FOXR1', 'score': 12.22}, {'connected_gene': 'C2CD2L', 'score': 12.12}, {'connected_gene': 'ENSG00000255121', 'score': 11.37}, {'connected_gene': 'ENSG00000245869', 'score': 11.36}, {'connected_gene': 'JAML', 'score': 10.87}, {'connected_gene': 'HINFP', 'score': 10.27}, {'connected_gene': 'H2AFX', 'score': 10.24}, {'connected_gene': 'TRAPPC4', 'score': 9.9}, {'connected_gene': 'RPL5P30', 'score': 9.78}, {'connected_gene': 'UPK2', 'score': 3.43}, {'connected_gene': 'HYOU1', 'score': 2.91}, {'connected_gene': 'SLC37A4', 'score': 2.67}, {'connected_gene': 'PHLDB1', 'score': 2.39}, {'connected_gene': 'CBL', 'score': 2.38}, {'connected_gene': 'CCDC153', 'score': 1.67}, {'connected_gene': 'MIR4492', 'score': 0.44}, {'connected_gene': 'GC11P118898', 'score': 0.34}]
chr11 GH11I118874 118874824 118879867 1.58 [{'connected_gene': 'BCL9L', 'score': 28.47}, {'connected_gene': 'DDX6', 'score': 18.49}, {'connected_gene': 'ENSG00000254909', 'score': 18.27}, {'connected_gene': 'UBE4A', 'score': 17.44}, {'connected_gene': 'ARCN1', 'score': 16.84}, {'connected_gene': 'RPL23AP64', 'score': 16.82}, {'connected_gene': 'ENSG00000254428', 'score': 14.53}, {'connected_gene': 'MPZL2', 'score': 13.97}, {'connected_gene': 'DPAGT1', 'score': 13.42}, {'connected_gene': 'RPS25', 'score': 12.44}, {'connected_gene': 'TREHP1', 'score': 11.89}, {'connected_gene': 'UPK2', 'score': 11.28}, {'connected_gene': 'RN7SL688P', 'score': 11.03}, {'connected_gene': 'RNF26', 'score': 10.41}, {'connected_gene': 'PHLDB1', 'score': 9.36}, {'connected_gene': 'LOC105369519', 'score': 7.75}, {'connected_gene': 'TREH', 'score': 7.72}, {'connected_gene': 'CXCR5', 'score': 6.42}, {'connected_gene': 'CCDC84', 'score': 5.87}, {'connected_gene': 'IFT46', 'score': 4.71}, {'connected_gene': 'TRAPPC4', 'score': 4.54}, {'connected_gene': 'CBL', 'score': 4.45}, {'connected_gene': 'KMT2A', 'score': 4.01}, {'connected_gene': 'VPS11', 'score': 2.82}, {'connected_gene': 'CCDC153', 'score': 1.72}, {'connected_gene': 'ENSG00000201535', 'score': 0.26}]
chr11 GH11I118603 118603661 118613594 2.79 [{'connected_gene': 'PHLDB1', 'score': 557.84}, {'connected_gene': 'IFT46', 'score': 35.41}, {'connected_gene': 'TREHP1', 'score': 34.71}, {'connected_gene': 'LOC105369519', 'score': 22.22}, {'connected_gene': 'KMT2A', 'score': 19.99}, {'connected_gene': 'TREH', 'score': 19.54}, {'connected_gene': 'TRAPPC4', 'score': 12.18}, {'connected_gene': 'ENSG00000255176', 'score': 11.7}, {'connected_gene': 'ARCN1', 'score': 10.74}, {'connected_gene': 'VPS11', 'score': 10.69}, {'connected_gene': 'CCDC84', 'score': 10.19}, {'connected_gene': 'HINFP', 'score': 10.16}, {'connected_gene': 'DPAGT1', 'score': 9.99}, {'connected_gene': 'TTC36', 'score': 9.84}, {'connected_gene': 'ENSG00000255384', 'score': 9.7}, {'connected_gene': 'ENSG00000254873', 'score': 9.41}, {'connected_gene': 'ATP5MG', 'score': 9.41}]
chr11 GH11I119106 119106036 119109922 2.05 [{'connected_gene': 'DPAGT1', 'score': 563.47}, {'connected_gene': 'C2CD2L', 'score': 550.44}, {'connected_gene': 'HINFP', 'score': 20.59}, {'connected_gene': 'ENSG00000254909', 'score': 14.73}, {'connected_gene': 'UBE4A', 'score': 13.32}, {'connected_gene': 'ARCN1', 'score': 13.25}, {'connected_gene': 'RPL23AP64', 'score': 12.92}, {'connected_gene': 'ENSG00000254428', 'score': 12.8}, {'connected_gene': 'BCL9L', 'score': 11.31}, {'connected_gene': 'RPS25', 'score': 10.43}, {'connected_gene': 'CCDC84', 'score': 10.14}, {'connected_gene': 'CCDC153', 'score': 6.17}]
chr11 GH11I118868 118868044 118871564 1.52 [{'connected_gene': 'DDX6', 'score': 26.33}, {'connected_gene': 'CCDC84', 'score': 16.15}, {'connected_gene': 'TREHP1', 'score': 13.36}, {'connected_gene': 'UPK2', 'score': 11.27}, {'connected_gene': 'FOXR1', 'score': 11.2}, {'connected_gene': 'ENSG00000222529', 'score': 11.2}, {'connected_gene': 'BCL9L', 'score': 11.02}, {'connected_gene': 'RN7SL688P', 'score': 11.0}, {'connected_gene': 'ENSG00000255176', 'score': 10.55}, {'connected_gene': 'PHLDB1', 'score': 10.54}, {'connected_gene': 'ENSG00000255121', 'score': 10.54}, {'connected_gene': 'NLRX1', 'score': 9.17}, {'connected_gene': 'TREH', 'score': 7.43}, {'connected_gene': 'CXCR5', 'score': 6.99}, {'connected_gene': 'CBL', 'score': 6.14}, {'connected_gene': 'KMT2A', 'score': 2.93}, {'connected_gene': 'VPS11', 'score': 2.16}, {'connected_gene': 'RPS25', 'score': 1.61}, {'connected_gene': 'CCDC153', 'score': 1.23}, {'connected_gene': 'ENSG00000201535', 'score': 0.29}]
chr11 GH11I118699 118699100 118701138 1.15 [{'connected_gene': 'LOC105369519', 'score': 42.95}, {'connected_gene': 'IFT46', 'score': 22.96}, {'connected_gene': 'FXYD6', 'score': 11.57}, {'connected_gene': 'ENSG00000272186', 'score': 10.76}, {'connected_gene': 'TMEM25', 'score': 10.48}, {'connected_gene': 'CD3E', 'score': 8.63}, {'connected_gene': 'CD3G', 'score': 7.53}, {'connected_gene': 'CCDC84', 'score': 5.29}, {'connected_gene': 'KMT2A', 'score': 5.27}, {'connected_gene': 'MPZL3', 'score': 4.29}, {'connected_gene': 'CD3D', 'score': 3.96}, {'connected_gene': 'DDX6', 'score': 3.89}, {'connected_gene': 'VPS11', 'score': 3.65}, {'connected_gene': 'RPS25', 'score': 2.6}, {'connected_gene': 'UBE4A', 'score': 2.27}, {'connected_gene': 'GC11P118703', 'score': 0.77}]
chr11 GH11I119323 119323401 119324001 1.28 [{'connected_gene': 'ENSG00000252119', 'score': 550.77}, {'connected_gene': 'UBE4A', 'score': 21.63}, {'connected_gene': 'BCL9L', 'score': 19.7}, {'connected_gene': 'ENSG00000254909', 'score': 14.64}, {'connected_gene': 'ARCN1', 'score': 13.24}, {'connected_gene': 'RPL23AP64', 'score': 12.82}, {'connected_gene': 'DPAGT1', 'score': 12.77}, {'connected_gene': 'ENSG00000254428', 'score': 12.71}, {'connected_gene': 'RPS25', 'score': 10.32}, {'connected_gene': 'CCDC84', 'score': 10.05}, {'connected_gene': 'GC11M119332', 'score': 0.44}]

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