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
ENST00000526713 [[101375435, 101375529], [101743028, 101743293]] None
ENST00000344327 [[101322294, 101323837], [101324380, 101324456], [101325748, 101325832], [101340157, 101340232], [101341913, 101342117], [101342867, 101343063], [101344239, 101344504], [101347031, 101347265], [101353679, 101353896], [101359667, 101359832], [101362286, 101362469], [101374754, 101375529], [101454064, 101454659]] [[101323685, 101323837], [101324380, 101324456], [101325748, 101325832], [101340157, 101340232], [101341913, 101342117], [101342867, 101343063], [101344239, 101344504], [101347031, 101347265], [101353679, 101353896], [101359667, 101359832], [101362286, 101362469], [101374754, 101375529], [101454064, 101454234]]
ENST00000532133 [[101323602, 101323837], [101324380, 101324456], [101325748, 101325832], [101340157, 101340232], [101341913, 101342117], [101342867, 101343063], [101344239, 101344504], [101353679, 101353896], [101359667, 101359832], [101362286, 101362469], [101374754, 101375529], [101454064, 101454237]] [[101323685, 101323837], [101324380, 101324456], [101325748, 101325832], [101340157, 101340232], [101341913, 101342117], [101342867, 101343063], [101344239, 101344504], [101353679, 101353896], [101359667, 101359832], [101362286, 101362469], [101374754, 101375529], [101454064, 101454234]]
ENST00000348423 [[101323685, 101323837], [101324380, 101324456], [101325748, 101325832], [101340157, 101340232], [101341913, 101342117], [101342867, 101343063], [101344239, 101344504], [101347031, 101347265], [101353679, 101353896], [101374754, 101375529], [101454064, 101454234]] [[101323685, 101323837], [101324380, 101324456], [101325748, 101325832], [101340157, 101340232], [101341913, 101342117], [101342867, 101343063], [101344239, 101344504], [101347031, 101347265], [101353679, 101353896], [101374754, 101375529], [101454064, 101454234]]
ENST00000360497 [[101323685, 101323837], [101324380, 101324456], [101325748, 101325832], [101340157, 101340232], [101341913, 101342117], [101342867, 101343063], [101344239, 101344504], [101347031, 101347265], [101353679, 101353896], [101362286, 101362469], [101374754, 101375529], [101454064, 101454234]] [[101323685, 101323837], [101324380, 101324456], [101325748, 101325832], [101340157, 101340232], [101341913, 101342117], [101342867, 101343063], [101344239, 101344504], [101347031, 101347265], [101353679, 101353896], [101362286, 101362469], [101374754, 101375529], [101454064, 101454234]]
ENST00000532184 [[101324371, 101324456], [101325748, 101326308]] None
ENST00000527240 [[101362111, 101362469], [101374754, 101374821]] None
NM_004621 [[101322294, 101323837], [101324380, 101324456], [101325748, 101325832], [101340157, 101340232], [101341913, 101342117], [101342867, 101343063], [101344239, 101344504], [101347031, 101347265], [101353679, 101353896], [101359667, 101359832], [101362286, 101362469], [101374754, 101375529], [101454064, 101454659]] [[101323685, 101323837], [101324380, 101324456], [101325748, 101325832], [101340157, 101340232], [101341913, 101342117], [101342867, 101343063], [101344239, 101344504], [101347031, 101347265], [101353679, 101353896], [101359667, 101359832], [101362286, 101362469], [101374754, 101375529], [101454064, 101454234]]
Promoter
Chrom Start End Description
chr11 101454246 101454255 CAGE_peak_11_at_TRPC6_5end
chr11 101454548 101454609 CAGE_peak_1_at_TRPC6_5end
chr11 101454633 101454644 CAGE_peak_5_at_TRPC6_5end
chr11 101454658 101454671 CAGE_peak_7_at_TRPC6_5end
chr11 101454679 101454715 CAGE_peak_2_at_TRPC6_5end
chr11 101454731 101454743 CAGE_peak_3_at_TRPC6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I102014 102014830 102014882 0.38 [{'connected_gene': 'TRPC6', 'score': 10.9}, {'connected_gene': 'GC11P102001', 'score': 0.39}, {'connected_gene': 'C11orf70', 'score': 0.29}]
chr11 GH11I102012 102012990 102013199 0.38 [{'connected_gene': 'TRPC6', 'score': 10.9}, {'connected_gene': 'GC11P102001', 'score': 0.39}, {'connected_gene': 'C11orf70', 'score': 0.29}]
chr11 GH11I102010 102010061 102012905 1.22 [{'connected_gene': 'TRPC6', 'score': 10.9}, {'connected_gene': 'CEP126', 'score': 5.27}, {'connected_gene': 'ANGPTL5', 'score': 5.24}, {'connected_gene': 'GC11P102001', 'score': 0.39}, {'connected_gene': 'C11orf70', 'score': 0.28}]
chr11 GH11I101909 101909876 101909879 0.31 [{'connected_gene': 'TRPC6', 'score': 10.96}, {'connected_gene': 'CEP126', 'score': 0.44}, {'connected_gene': 'ANGPTL5', 'score': 0.44}]
chr11 GH11I101870 101870436 101871267 0.66 [{'connected_gene': 'TRPC6', 'score': 550.77}, {'connected_gene': 'CEP126', 'score': 7.45}, {'connected_gene': 'PIR36183', 'score': 0.39}]
chr11 GH11I102006 102006534 102008379 1.08 [{'connected_gene': 'TRPC6', 'score': 11.33}, {'connected_gene': 'ANGPTL5', 'score': 5.68}, {'connected_gene': 'GC11P102001', 'score': 0.44}, {'connected_gene': 'C11orf70', 'score': 0.28}]
chr11 GH11I101517 101516106 101516114 0.24 [{'connected_gene': 'TRPC6', 'score': 5.72}, {'connected_gene': 'MIR3920', 'score': 0.77}, {'connected_gene': 'LOC105369458', 'score': 0.08}]
chr11 GH11I101720 101720348 101721976 0.2 [{'connected_gene': 'TRPC6', 'score': 4.31}, {'connected_gene': 'LOC100129471', 'score': 0.25}, {'connected_gene': 'LOC100127938', 'score': 0.12}]
chr11 GH11I101567 101567150 101567299 0.31 [{'connected_gene': 'TRPC6', 'score': 5.56}, {'connected_gene': 'LOC100127938', 'score': 0.37}, {'connected_gene': 'MIR3920', 'score': 0.25}]
chr11 GH11I101553 101553403 101555579 0.49 [{'connected_gene': 'TRPC6', 'score': 5.13}, {'connected_gene': 'LOC100127938', 'score': 0.31}, {'connected_gene': 'MIR3920', 'score': 0.29}]
chr11 GH11I101582 101582355 101584619 1.43 [{'connected_gene': 'TRPC6', 'score': 556.94}, {'connected_gene': 'LOC100127938', 'score': 550.77}, {'connected_gene': 'MIR3920', 'score': 0.21}]
chr11 GH11I101617 101617593 101619608 0.2 [{'connected_gene': 'TRPC6', 'score': 6.79}, {'connected_gene': 'LOC100127938', 'score': 0.29}, {'connected_gene': 'LOC100129471', 'score': 0.1}]
chr11 GH11I101861 101861969 101865134 0.92 [{'connected_gene': 'CEP126', 'score': 8.32}, {'connected_gene': 'PIR36183', 'score': 0.77}, {'connected_gene': 'TRPC6', 'score': 0.44}]
chr11 GH11I101865 101865761 101868454 0.87 [{'connected_gene': 'CEP126', 'score': 8.13}, {'connected_gene': 'PIR36183', 'score': 0.44}, {'connected_gene': 'TRPC6', 'score': 0.44}]
chr11 GH11I101816 101816944 101818326 0.2 [{'connected_gene': 'CEP126', 'score': 8.36}, {'connected_gene': 'ANGPTL5', 'score': 5.0}, {'connected_gene': 'PIR35553', 'score': 0.37}, {'connected_gene': 'PIR36183', 'score': 0.26}, {'connected_gene': 'TRPC6', 'score': 0.23}]
chr11 GH11I101911 101911762 101916745 2.22 [{'connected_gene': 'ANGPTL5', 'score': 559.81}, {'connected_gene': 'CEP126', 'score': 550.77}, {'connected_gene': 'TRPC6', 'score': 10.94}]
chr11 GH11I101516 101516507 101516839 0.31 [{'connected_gene': 'MIR3920', 'score': 0.77}, {'connected_gene': 'LOC105369458', 'score': 0.08}, {'connected_gene': 'TRPC6', 'score': 0.05}]
chr11 GH11I101487 101487298 101488496 0.31 [{'connected_gene': 'MIR3920', 'score': 0.29}, {'connected_gene': 'LOC105369458', 'score': 0.1}, {'connected_gene': 'TRPC6', 'score': 0.05}]
chr11 GH11I101471 101471170 101471319 0.2 [{'connected_gene': 'MIR3920', 'score': 0.25}, {'connected_gene': 'LOC105369458', 'score': 0.1}, {'connected_gene': 'TRPC6', 'score': 0.05}]
chr11 GH11I101478 101478576 101479300 0.38 [{'connected_gene': 'MIR3920', 'score': 0.26}, {'connected_gene': 'LOC105369458', 'score': 0.1}, {'connected_gene': 'TRPC6', 'score': 0.05}]
chr11 GH11I101521 101521562 101522424 0.2 [{'connected_gene': 'MIR3920', 'score': 0.77}, {'connected_gene': 'LOC100127938', 'score': 0.21}, {'connected_gene': 'TRPC6', 'score': 0.05}]
chr11 GH11I101748 101748601 101749892 0.51 [{'connected_gene': 'LOC100129471', 'score': 0.34}, {'connected_gene': 'TRPC6', 'score': 0.13}, {'connected_gene': 'LOC100127938', 'score': 0.1}]
chr11 GH11I101775 101775130 101775279 0.43 [{'connected_gene': 'LOC100129471', 'score': 0.44}, {'connected_gene': 'PIR35553', 'score': 0.34}, {'connected_gene': 'TRPC6', 'score': 0.15}]
chr11 GH11I101715 101715450 101715519 0.2 [{'connected_gene': 'LOC100129471', 'score': 0.23}, {'connected_gene': 'LOC100127938', 'score': 0.12}, {'connected_gene': 'TRPC6', 'score': 0.1}]
chr11 GH11I101706 101706650 101706799 0.38 [{'connected_gene': 'LOC100129471', 'score': 0.21}, {'connected_gene': 'LOC100127938', 'score': 0.13}, {'connected_gene': 'TRPC6', 'score': 0.1}]
chr11 GH11I101718 101718550 101718699 0.38 [{'connected_gene': 'LOC100129471', 'score': 0.23}, {'connected_gene': 'LOC100127938', 'score': 0.12}, {'connected_gene': 'TRPC6', 'score': 0.1}]
chr11 GH11I101686 101686610 101686879 0.56 [{'connected_gene': 'LOC100129471', 'score': 0.18}, {'connected_gene': 'LOC100127938', 'score': 0.15}, {'connected_gene': 'TRPC6', 'score': 0.09}]
chr11 GH11I101860 101860830 101861039 0.59 [{'connected_gene': 'PIR36183', 'score': 550.77}, {'connected_gene': 'CEP126', 'score': 11.93}, {'connected_gene': 'TRPC6', 'score': 0.39}]