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
ENST00000370597 [[99624756, 99625471], [99640005, 99640149], [99642542, 99642585], [99643962, 99644108], [99655001, 99655170], [99655641, 99655742], [99656665, 99656748], [99661259, 99661396], [99664425, 99664571], [99667769, 99667904], [99677256, 99677413], [99683020, 99683157], [99695926, 99696123], [99770894, 99771094], [99790205, 99790585]] [[99625304, 99625471], [99640005, 99640149], [99642542, 99642585], [99643962, 99644108], [99655001, 99655170], [99655641, 99655742], [99656665, 99656748], [99661259, 99661396], [99664425, 99664571], [99667769, 99667904], [99677256, 99677413], [99683020, 99683157], [99695926, 99696123], [99770894, 99771094], [99790205, 99790229]]
ENST00000298819 [[99624757, 99625471], [99640005, 99640149], [99643962, 99644108], [99655001, 99655170], [99655641, 99655742], [99656665, 99656748], [99661259, 99661396], [99664425, 99664571], [99667769, 99667904], [99677256, 99677413], [99683020, 99683157], [99695926, 99696123], [99770894, 99771094], [99790205, 99790585]] [[99625360, 99625471], [99640005, 99640149], [99643962, 99644108], [99655001, 99655170], [99655641, 99655742], [99656665, 99656748], [99661259, 99661396], [99664425, 99664571], [99667769, 99667904], [99677256, 99677413], [99683020, 99683157], [99695926, 99696123], [99770894, 99771094], [99790205, 99790229]]
ENST00000309155 [[99639407, 99639558], [99640005, 99640149], [99642542, 99642585], [99643962, 99644108], [99655001, 99655170], [99655641, 99655742], [99656665, 99656748], [99661259, 99661396], [99664425, 99664571], [99667769, 99667904], [99677256, 99677413], [99683020, 99683157], [99695926, 99696123], [99770894, 99771094]] [[99639439, 99639558], [99640005, 99640149], [99642542, 99642585], [99643962, 99644108], [99655001, 99655170], [99655641, 99655742], [99656665, 99656748], [99661259, 99661396], [99664425, 99664571], [99667769, 99667904], [99677256, 99677413], [99683020, 99683157], [99695926, 99696123], [99770894, 99771094]]
ENST00000370591 [[99639439, 99639558], [99640005, 99640149], [99642542, 99642585], [99643962, 99644108], [99655001, 99655170], [99655641, 99655742], [99656665, 99656748], [99661259, 99661396], [99664425, 99664571], [99667769, 99667904], [99677256, 99677413], [99683020, 99683157], [99695926, 99696123], [99770894, 99771094], [99790205, 99790585]] [[99639439, 99639558], [99640005, 99640149], [99642542, 99642585], [99643962, 99644108], [99655001, 99655170], [99655641, 99655742], [99656665, 99656748], [99661259, 99661396], [99664425, 99664571], [99667769, 99667904], [99677256, 99677413], [99683020, 99683157], [99695926, 99696123], [99770894, 99771094], [99790205, 99790229]]
ENST00000413387 [[99624756, 99625471], [99640005, 99640149], [99643962, 99644108], [99655001, 99655170], [99655641, 99655742], [99656665, 99656748], [99661259, 99661396], [99664425, 99664571], [99667769, 99667904], [99677256, 99677413], [99683020, 99683157], [99695926, 99696035]] [[99625360, 99625471], [99640005, 99640149], [99643962, 99644108], [99655001, 99655170], [99655641, 99655742], [99656665, 99656748], [99661259, 99661396], [99664425, 99664571], [99667769, 99667904], [99677256, 99677413], [99683020, 99683157], [99695926, 99696035]]
ENST00000436034 [[99638153, 99638446], [99640005, 99640149], [99643962, 99643999]] [[99638389, 99638446], [99640005, 99640149], [99643962, 99643999]]
ENST00000468549 [[99640102, 99640149], [99642542, 99642585], [99643962, 99644305]] None
NM_018058 [[99624756, 99625471], [99640005, 99640149], [99642542, 99642585], [99643962, 99644108], [99655001, 99655170], [99655641, 99655742], [99656665, 99656748], [99661259, 99661396], [99664425, 99664571], [99667769, 99667904], [99677256, 99677413], [99683020, 99683157], [99695926, 99696123], [99770894, 99771094], [99790205, 99790585]] [[99625304, 99625471], [99640005, 99640149], [99642542, 99642585], [99643962, 99644108], [99655001, 99655170], [99655641, 99655742], [99656665, 99656748], [99661259, 99661396], [99664425, 99664571], [99667769, 99667904], [99677256, 99677413], [99683020, 99683157], [99695926, 99696123], [99770894, 99771094], [99790205, 99790229]]
NM_001206528 [[99639382, 99639558], [99640005, 99640149], [99642542, 99642585], [99643962, 99644108], [99655001, 99655170], [99655641, 99655742], [99656665, 99656748], [99661259, 99661396], [99664425, 99664571], [99667769, 99667904], [99677256, 99677413], [99683020, 99683157], [99695926, 99696123], [99770894, 99771094], [99790205, 99790585]] [[99639439, 99639558], [99640005, 99640149], [99642542, 99642585], [99643962, 99644108], [99655001, 99655170], [99655641, 99655742], [99656665, 99656748], [99661259, 99661396], [99664425, 99664571], [99667769, 99667904], [99677256, 99677413], [99683020, 99683157], [99695926, 99696123], [99770894, 99771094], [99790205, 99790229]]
Promoter
Chrom Start End Description
chr10 99771079 99771109 CAGE_peak_3_at_CRTAC1_5end
chr10 99790340 99790353 CAGE_peak_2_at_CRTAC1_5end
chr10 99790370 99790385 CAGE_peak_1_at_CRTAC1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I097780 97780965 97782853 0.79 [{'connected_gene': 'MARVELD1', 'score': 11.57}, {'connected_gene': 'CRTAC1', 'score': 9.86}, {'connected_gene': 'ZFYVE27', 'score': 9.84}, {'connected_gene': 'SFRP5', 'score': 0.44}, {'connected_gene': 'PIR33458', 'score': 0.22}]
chr10 GH10I097786 97786416 97790184 1.37 [{'connected_gene': 'MARVELD1', 'score': 10.98}, {'connected_gene': 'CRTAC1', 'score': 10.74}, {'connected_gene': 'ZFYVE27', 'score': 10.58}, {'connected_gene': 'SFRP5', 'score': 0.37}, {'connected_gene': 'PIR33458', 'score': 0.23}]
chr10 GH10I097857 97857285 97859511 0.57 [{'connected_gene': 'SFRP5', 'score': 10.82}, {'connected_gene': 'LOXL4', 'score': 9.23}, {'connected_gene': 'GOLGA7B', 'score': 5.92}, {'connected_gene': 'PIR47260', 'score': 0.31}, {'connected_gene': 'CRTAC1', 'score': 0.09}]
chr10 GH10I097828 97828699 97830699 0.38 [{'connected_gene': 'SFRP5', 'score': 11.36}, {'connected_gene': 'CRTAC1', 'score': 10.62}, {'connected_gene': 'GOLGA7B', 'score': 9.59}, {'connected_gene': 'ZFYVE27', 'score': 6.27}, {'connected_gene': 'PIR33458', 'score': 0.39}, {'connected_gene': 'LINC00866', 'score': 0.34}]
chr10 GH10I097837 97837681 97838646 0.2 [{'connected_gene': 'SFRP5', 'score': 11.15}, {'connected_gene': 'CRTAC1', 'score': 10.62}, {'connected_gene': 'GOLGA7B', 'score': 6.5}, {'connected_gene': 'PIR33458', 'score': 0.77}, {'connected_gene': 'LINC00866', 'score': 0.39}]
chr10 GH10I098045 98045884 98046053 0.65 [{'connected_gene': 'SFRP5', 'score': 9.61}, {'connected_gene': 'CRTAC1', 'score': 0.37}, {'connected_gene': 'ENSG00000278752', 'score': 0.29}]
chr10 GH10I097792 97792064 97792253 0.88 [{'connected_gene': 'SFRP5', 'score': 11.77}, {'connected_gene': 'CRTAC1', 'score': 10.25}, {'connected_gene': 'PIR33458', 'score': 0.25}]
chr10 GH10I097796 97796254 97797112 0.76 [{'connected_gene': 'SFRP5', 'score': 11.61}, {'connected_gene': 'CRTAC1', 'score': 10.43}, {'connected_gene': 'PIR33458', 'score': 0.26}]
chr10 GH10I097862 97862667 97863395 0.2 [{'connected_gene': 'SFRP5', 'score': 11.57}, {'connected_gene': 'GOLGA7B', 'score': 0.39}, {'connected_gene': 'PIR47260', 'score': 0.34}, {'connected_gene': 'CRTAC1', 'score': 0.1}]
chr10 GH10I097770 97770699 97773172 1.79 [{'connected_gene': 'SFRP5', 'score': 550.77}, {'connected_gene': 'ZFYVE27', 'score': 22.42}, {'connected_gene': 'CRTAC1', 'score': 10.07}, {'connected_gene': 'MARVELD1', 'score': 9.34}]
chr10 GH10I097861 97861153 97862400 1.17 [{'connected_gene': 'SFRP5', 'score': 11.58}, {'connected_gene': 'ZFYVE27', 'score': 10.39}, {'connected_gene': 'GOLGA7B', 'score': 0.39}, {'connected_gene': 'PIR47260', 'score': 0.34}, {'connected_gene': 'CRTAC1', 'score': 0.1}]
chr10 GH10I097785 97785119 97785473 0.64 [{'connected_gene': 'CRTAC1', 'score': 9.86}, {'connected_gene': 'MARVELD1', 'score': 9.38}, {'connected_gene': 'SFRP5', 'score': 0.39}, {'connected_gene': 'PIR33458', 'score': 0.22}]
chr10 GH10I097778 97778484 97778633 0.38 [{'connected_gene': 'CRTAC1', 'score': 9.86}, {'connected_gene': 'SFRP5', 'score': 0.44}, {'connected_gene': 'PIR33458', 'score': 0.21}]
chr10 GH10I097793 97791380 97791516 0.4 [{'connected_gene': 'CRTAC1', 'score': 10.25}, {'connected_gene': 'SFRP5', 'score': 0.37}, {'connected_gene': 'PIR33458', 'score': 0.25}]
chr10 GH10I097784 97784472 97784939 0.2 [{'connected_gene': 'CRTAC1', 'score': 9.86}, {'connected_gene': 'SFRP5', 'score': 0.39}, {'connected_gene': 'PIR33458', 'score': 0.22}]
chr10 GH10I097791 97791804 97791953 0.66 [{'connected_gene': 'CRTAC1', 'score': 10.25}, {'connected_gene': 'SFRP5', 'score': 0.37}, {'connected_gene': 'PIR33458', 'score': 0.25}]
chr10 GH10I097783 97783868 97784388 0.31 [{'connected_gene': 'CRTAC1', 'score': 9.86}, {'connected_gene': 'SFRP5', 'score': 0.39}, {'connected_gene': 'PIR33458', 'score': 0.22}]
chr10 GH10I097781 97780372 97780639 0.38 [{'connected_gene': 'CRTAC1', 'score': 9.86}, {'connected_gene': 'SFRP5', 'score': 0.44}, {'connected_gene': 'PIR33458', 'score': 0.21}]
chr10 GH10I097842 97842801 97843000 0.2 [{'connected_gene': 'CRTAC1', 'score': 10.34}, {'connected_gene': 'PIR33458', 'score': 0.77}, {'connected_gene': 'LINC00866', 'score': 0.44}, {'connected_gene': 'GC10M097848', 'score': 0.44}]
chr10 GH10I097914 97914550 97915351 0.97 [{'connected_gene': 'CRTAC1', 'score': 13.36}, {'connected_gene': 'GC10M097904', 'score': 0.44}, {'connected_gene': 'GC10M097984', 'score': 0.18}]
chr10 GH10I098029 98029149 98031715 1.49 [{'connected_gene': 'CRTAC1', 'score': 550.77}, {'connected_gene': 'ENSG00000230928', 'score': 8.3}, {'connected_gene': 'GC10M097984', 'score': 0.28}]
chr10 GH10I098041 98041544 98041693 0.59 [{'connected_gene': 'CRTAC1', 'score': 0.39}, {'connected_gene': 'ENSG00000278752', 'score': 0.29}]
chr10 GH10I098028 98028304 98028453 0.64 [{'connected_gene': 'CRTAC1', 'score': 0.77}, {'connected_gene': 'GC10M097984', 'score': 0.28}]
chr10 GH10I097869 97869044 97870112 1.29 [{'connected_gene': 'GOLGA7B', 'score': 18.89}, {'connected_gene': 'MMS19', 'score': 12.93}, {'connected_gene': 'R3HCC1L', 'score': 12.85}, {'connected_gene': 'SFRP5', 'score': 11.08}, {'connected_gene': 'PIR47260', 'score': 0.39}, {'connected_gene': 'CRTAC1', 'score': 0.1}]
chr10 GH10I097774 97774712 97775558 0.62 [{'connected_gene': 'ZFYVE27', 'score': 15.64}, {'connected_gene': 'CRTAC1', 'score': 10.07}, {'connected_gene': 'SFRP5', 'score': 0.77}, {'connected_gene': 'PIR33458', 'score': 0.2}]
chr10 GH10I097790 97790964 97791133 0.51 [{'connected_gene': 'ZFYVE27', 'score': 18.42}, {'connected_gene': 'CRTAC1', 'score': 10.74}, {'connected_gene': 'SFRP5', 'score': 0.37}, {'connected_gene': 'PIR33458', 'score': 0.25}]
chr10 GH10I097775 97774015 97774473 0.31 [{'connected_gene': 'ZFYVE27', 'score': 11.11}, {'connected_gene': 'CRTAC1', 'score': 10.07}, {'connected_gene': 'SFRP5', 'score': 0.77}, {'connected_gene': 'PIR33458', 'score': 0.2}]
chr10 GH10I097888 97888397 97890471 1.28 [{'connected_gene': 'MORN4', 'score': 13.03}, {'connected_gene': 'CRTAC1', 'score': 4.82}, {'connected_gene': 'PIR47260', 'score': 0.44}, {'connected_gene': 'GC10M097904', 'score': 0.37}]
chr10 GH10I097839 97839574 97841104 1.36 [{'connected_gene': 'PIR33458', 'score': 550.77}, {'connected_gene': 'CRTAC1', 'score': 10.33}, {'connected_gene': 'PYROXD2', 'score': 9.76}, {'connected_gene': 'GOLGA7B', 'score': 6.6}, {'connected_gene': 'LINC00866', 'score': 0.44}, {'connected_gene': 'SFRP5', 'score': 0.2}]
chr10 GH10I097881 97881799 97883441 0.89 [{'connected_gene': 'PIR47260', 'score': 550.77}, {'connected_gene': 'CRTAC1', 'score': 8.05}, {'connected_gene': 'GOLGA7B', 'score': 0.29}]
chr10 GH10I098171 98171764 98172625 0.2 [{'connected_gene': 'GC10P098173', 'score': 550.77}, {'connected_gene': 'ENSG00000230928', 'score': 15.3}, {'connected_gene': 'CRTAC1', 'score': 5.12}, {'connected_gene': 'R3HCC1L', 'score': 0.28}]
chr10 GH10I097891 97891649 97892480 0.57 [{'connected_gene': 'PIR47260', 'score': 0.44}, {'connected_gene': 'GC10M097904', 'score': 0.39}, {'connected_gene': 'CRTAC1', 'score': 0.12}]
chr10 GH10I098005 98005037 98005123 0.24 [{'connected_gene': 'GC10M097984', 'score': 0.39}, {'connected_gene': 'CRTAC1', 'score': 0.31}]
chr10 GH10I098006 98006384 98006473 0.75 [{'connected_gene': 'GC10M097984', 'score': 0.39}, {'connected_gene': 'CRTAC1', 'score': 0.34}]

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