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
ENST00000361136 [[150126121, 150129095], [150174862, 150174914], [150176162, 150177613]] [[150127137, 150129095], [150174862, 150174914], [150176162, 150176423]]
ENST00000361875 [[150126121, 150129095], [150140835, 150140907], [150174862, 150174914], [150176162, 150184218]] [[150127137, 150129095], [150140835, 150140907], [150174862, 150174914], [150176162, 150176423]]
ENST00000480589 [[150128755, 150129095], [150176162, 150176648]] [[150128755, 150129095], [150176162, 150176172]]
ENST00000466814 [[150128795, 150129095], [150174862, 150174914], [150176162, 150177903]] [[150128795, 150129095], [150174862, 150174914], [150176162, 150176423]]
ENST00000485421 [[150128965, 150129095], [150140835, 150140907], [150155984, 150156141], [150174862, 150174914], [150176162, 150176466]] [[150128965, 150129095], [150140835, 150140907], [150155984, 150156027]]
ENST00000492828 [[150140825, 150140907], [150141008, 150141238]] None
ENST00000460316 [[150174737, 150174914], [150176162, 150176915]] None
NM_001303264 [[150126121, 150129095], [150174862, 150174914], [150176162, 150177906]] [[150127137, 150129095], [150174862, 150174914], [150176162, 150176423]]
NM_014779 [[150126121, 150129095], [150140835, 150140907], [150174862, 150174914], [150176162, 150177906]] [[150127137, 150129095], [150140835, 150140907], [150174862, 150174914], [150176162, 150176423]]
NR_130136 [[150126121, 150129095], [150140835, 150140907], [150155984, 150156141], [150174862, 150174914], [150176162, 150177906]] None
Promoter
Chrom Start End Description
chr3 150126022 150126034 CAGE_peak_10_at_TSC22D2_5end
chr3 150126038 150126052 CAGE_peak_8_at_TSC22D2_5end
chr3 150126065 150126097 CAGE_peak_1_at_TSC22D2_5end
chr3 150126101 150126118 CAGE_peak_6_at_TSC22D2_5end
chr3 150126136 150126158 CAGE_peak_4_at_TSC22D2_5end
chr3 150126200 150126211 CAGE_peak_11_at_TSC22D2_5end
chr3 150126416 150126437 CAGE_peak_3_at_TSC22D2_5end
chr3 150126440 150126455 CAGE_peak_9_at_TSC22D2_5end
chr3 150126706 150126754 CAGE_peak_5_at_TSC22D2_5end
chr3 150126759 150126784 CAGE_peak_2_at_TSC22D2_5end
chr3 150126904 150126958 CAGE_peak_7_at_TSC22D2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I150277 150277351 150279919 0.69 [{'connected_gene': 'TSC22D2', 'score': 10.41}, {'connected_gene': 'EIF2A', 'score': 5.13}, {'connected_gene': 'LOC105374154', 'score': 0.77}, {'connected_gene': 'LINC01214', 'score': 0.25}]
chr3 GH03I149497 149497770 149499689 0.2 [{'connected_gene': 'TSC22D2', 'score': 5.2}, {'connected_gene': 'TM4SF4', 'score': 4.52}, {'connected_gene': 'LOC100421817', 'score': 0.77}, {'connected_gene': 'RNU6-1098P', 'score': 0.31}]
chr3 GH03I150495 150495201 150495843 0.88 [{'connected_gene': 'TSC22D2', 'score': 12.16}, {'connected_gene': 'PFN2', 'score': 10.75}, {'connected_gene': 'ENSG00000242791', 'score': 10.74}, {'connected_gene': 'ANKUB1', 'score': 10.74}, {'connected_gene': 'EIF2A', 'score': 6.07}, {'connected_gene': 'GC03M150475', 'score': 0.37}]
chr3 GH03I150384 150384193 150386094 1.63 [{'connected_gene': 'TSC22D2', 'score': 26.91}, {'connected_gene': 'SERP1', 'score': 4.56}, {'connected_gene': 'SIAH2', 'score': 1.33}, {'connected_gene': 'LINC01214', 'score': 0.21}]
chr3 GH03I150367 150367516 150374000 1.39 [{'connected_gene': 'TSC22D2', 'score': 4.54}, {'connected_gene': 'MED12L', 'score': 4.41}, {'connected_gene': 'LINC01214', 'score': 0.25}]
chr3 GH03I151093 151093174 151095202 0.56 [{'connected_gene': 'TSC22D2', 'score': 10.59}, {'connected_gene': 'MED12L', 'score': 0.44}, {'connected_gene': 'GC03M151148', 'score': 0.21}]
chr3 GH03I150273 150273417 150273791 0.25 [{'connected_gene': 'TSC22D2', 'score': 6.07}, {'connected_gene': 'RNF13', 'score': 2.9}, {'connected_gene': 'SERP1', 'score': 2.15}, {'connected_gene': 'LOC105374154', 'score': 0.77}, {'connected_gene': 'ENSG00000278234', 'score': 0.29}, {'connected_gene': 'LINC01214', 'score': 0.23}]
chr3 GH03I150299 150299010 150299904 0.31 [{'connected_gene': 'TSC22D2', 'score': 10.73}, {'connected_gene': 'LINC01214', 'score': 0.34}, {'connected_gene': 'LOC105374154', 'score': 0.34}]
chr3 GH03I150300 150300377 150302663 0.8 [{'connected_gene': 'TSC22D2', 'score': 10.73}, {'connected_gene': 'LINC01214', 'score': 0.34}, {'connected_gene': 'LOC105374154', 'score': 0.31}]
chr3 GH03I150394 150394282 150395145 0.31 [{'connected_gene': 'TSC22D2', 'score': 0.39}, {'connected_gene': 'LINC01214', 'score': 0.19}]
chr3 GH03I150442 150442664 150444121 0.46 [{'connected_gene': 'TSC22D2', 'score': 11.74}, {'connected_gene': 'NPM1P29', 'score': 5.11}, {'connected_gene': 'GC03P150463', 'score': 0.37}, {'connected_gene': 'GC03M150408', 'score': 0.29}]
chr3 GH03I150433 150433801 150434400 0.2 [{'connected_gene': 'TSC22D2', 'score': 11.42}, {'connected_gene': 'GC03M150408', 'score': 0.34}, {'connected_gene': 'GC03P150463', 'score': 0.31}]
chr3 GH03I150395 150395908 150397889 0.4 [{'connected_gene': 'EIF2A', 'score': 5.68}, {'connected_gene': 'TSC22D2', 'score': 0.39}, {'connected_gene': 'LINC01214', 'score': 0.19}]
chr3 GH03I150387 150387923 150389287 0.31 [{'connected_gene': 'EIF2A', 'score': 6.59}, {'connected_gene': 'TSC22D2', 'score': 0.37}, {'connected_gene': 'LINC01214', 'score': 0.21}]
chr3 GH03I150418 150418496 150420735 0.43 [{'connected_gene': 'EIF2A', 'score': 6.76}, {'connected_gene': 'GC03M150408', 'score': 0.44}, {'connected_gene': 'TSC22D2', 'score': 0.39}, {'connected_gene': 'GC03P150463', 'score': 0.26}]
chr3 GH03I150365 150365046 150365692 0.97 [{'connected_gene': 'EIF2A', 'score': 4.76}, {'connected_gene': 'LINC01214', 'score': 0.26}, {'connected_gene': 'TSC22D2', 'score': 0.26}]
chr3 GH03I150446 150446142 150452891 1.14 [{'connected_gene': 'EIF2A', 'score': 5.68}, {'connected_gene': 'NPM1P29', 'score': 5.23}, {'connected_gene': 'GC03P150463', 'score': 0.39}, {'connected_gene': 'GC03M150408', 'score': 0.28}, {'connected_gene': 'TSC22D2', 'score': 0.26}]
chr3 GH03I150759 150759014 150766484 2.55 [{'connected_gene': 'SIAH2', 'score': 559.15}, {'connected_gene': 'SIAH2-AS1', 'score': 550.77}, {'connected_gene': 'TSC22D2', 'score': 4.3}, {'connected_gene': 'SERP1', 'score': 1.86}, {'connected_gene': 'GPR171', 'score': 1.54}, {'connected_gene': 'SELENOT', 'score': 1.2}, {'connected_gene': 'LOC105374155', 'score': 0.77}]
chr3 GH03I150220 150220801 150221600 0.9 [{'connected_gene': 'PFN2', 'score': 12.03}, {'connected_gene': 'ENSG00000242791', 'score': 12.01}, {'connected_gene': 'ANKUB1', 'score': 12.01}, {'connected_gene': 'TSC22D2', 'score': 11.08}, {'connected_gene': 'LINC01998', 'score': 9.71}, {'connected_gene': 'ENSG00000241048', 'score': 0.77}, {'connected_gene': 'GC03P150194', 'score': 0.31}]
chr3 GH03I150227 150227914 150228201 0.89 [{'connected_gene': 'PFN2', 'score': 11.33}, {'connected_gene': 'ANKUB1', 'score': 11.3}, {'connected_gene': 'ENSG00000242791', 'score': 11.3}, {'connected_gene': 'TSC22D2', 'score': 10.62}, {'connected_gene': 'ENSG00000241048', 'score': 0.77}, {'connected_gene': 'LINC01213', 'score': 0.39}]
chr3 GH03I150215 150215757 150217103 0.94 [{'connected_gene': 'PFN2', 'score': 11.77}, {'connected_gene': 'ENSG00000242791', 'score': 11.74}, {'connected_gene': 'ANKUB1', 'score': 11.74}, {'connected_gene': 'LOC730021', 'score': 10.63}, {'connected_gene': 'TSC22D2', 'score': 10.45}, {'connected_gene': 'LINC01998', 'score': 10.12}, {'connected_gene': 'ENSG00000241048', 'score': 0.44}, {'connected_gene': 'GC03P150194', 'score': 0.34}]
chr3 GH03I150598 150598167 150607003 2.51 [{'connected_gene': 'SELENOT', 'score': 556.03}, {'connected_gene': 'SERP1', 'score': 550.77}, {'connected_gene': 'EIF2A', 'score': 52.33}, {'connected_gene': 'COMMD2', 'score': 11.96}, {'connected_gene': 'TSC22D2', 'score': 11.26}, {'connected_gene': 'ERICH6', 'score': 10.68}, {'connected_gene': 'ERICH6-AS1', 'score': 10.68}]
chr3 GH03I150344 150344175 150352560 1.28 [{'connected_gene': 'COMMD2', 'score': 15.67}, {'connected_gene': 'TSC22D2', 'score': 15.11}, {'connected_gene': 'EIF2A', 'score': 4.99}, {'connected_gene': 'P2RY14', 'score': 4.62}, {'connected_gene': 'LINC01214', 'score': 0.34}]
chr3 GH03I150375 150375576 150377115 1.3 [{'connected_gene': 'COMMD2', 'score': 14.18}, {'connected_gene': 'EIF2A', 'score': 11.95}, {'connected_gene': 'TSC22D2', 'score': 11.38}, {'connected_gene': 'LINC01214', 'score': 0.23}]
chr3 GH03I149811 149811919 149817803 2.33 [{'connected_gene': 'RNF13', 'score': 573.49}, {'connected_gene': 'PFN2', 'score': 25.26}, {'connected_gene': 'COMMD2', 'score': 16.93}, {'connected_gene': 'TSC22D2', 'score': 11.2}, {'connected_gene': 'TMEM183B', 'score': 7.36}, {'connected_gene': 'RNU6-720P', 'score': 0.15}, {'connected_gene': 'ANKUB1', 'score': 0.1}]
chr3 GH03I149500 149500698 149502779 0.58 [{'connected_gene': 'RNU6-1098P', 'score': 11.27}, {'connected_gene': 'COMMD2', 'score': 10.24}, {'connected_gene': 'TM4SF4', 'score': 7.23}, {'connected_gene': 'TMEM183B', 'score': 5.6}, {'connected_gene': 'TSC22D2', 'score': 4.99}, {'connected_gene': 'LOC100421817', 'score': 0.44}]
chr3 GH03I150733 150733201 150745626 1.74 [{'connected_gene': 'LOC101928105', 'score': 550.77}, {'connected_gene': 'SIAH2', 'score': 13.96}, {'connected_gene': 'SIAH2-AS1', 'score': 12.02}, {'connected_gene': 'ERICH6', 'score': 11.35}, {'connected_gene': 'ERICH6-AS1', 'score': 11.33}, {'connected_gene': 'TSC22D2', 'score': 6.6}, {'connected_gene': 'SERP1', 'score': 4.38}, {'connected_gene': 'CLRN1', 'score': 3.01}, {'connected_gene': 'PIR41342', 'score': 0.77}]
chr3 GH03I150327 150327871 150328979 0.31 [{'connected_gene': 'LINC01214', 'score': 0.77}, {'connected_gene': 'TSC22D2', 'score': 0.18}]
chr3 GH03I150342 150342728 150343603 0.76 [{'connected_gene': 'LINC01214', 'score': 0.37}, {'connected_gene': 'TSC22D2', 'score': 0.2}]
chr3 GH03I150362 150362192 150363442 0.94 [{'connected_gene': 'LINC01214', 'score': 0.28}, {'connected_gene': 'TSC22D2', 'score': 0.25}]
chr3 GH03I150357 150357787 150358721 0.2 [{'connected_gene': 'LINC01214', 'score': 0.29}, {'connected_gene': 'TSC22D2', 'score': 0.23}]
chr3 GH03I149939 149939526 149940063 0.29 [{'connected_gene': 'NPM1P29', 'score': 550.77}, {'connected_gene': 'TSC22D2', 'score': 2.14}, {'connected_gene': 'RNF13', 'score': 1.54}, {'connected_gene': 'RNU6-720P', 'score': 0.34}, {'connected_gene': 'ANKUB1', 'score': 0.31}]
chr3 GH03I150406 150406536 150416120 2.3 [{'connected_gene': 'GC03M150408', 'score': 550.77}, {'connected_gene': 'TSC22D2', 'score': 550.77}, {'connected_gene': 'WWTR1', 'score': 11.61}, {'connected_gene': 'COMMD2', 'score': 11.56}, {'connected_gene': 'WWTR1-IT1', 'score': 10.58}, {'connected_gene': 'EIF2A', 'score': 5.97}, {'connected_gene': 'NPM1P29', 'score': 5.25}, {'connected_gene': 'GC03P150463', 'score': 0.23}]
chr3 GH03I150225 150225913 150226670 0.31 [{'connected_gene': 'ENSG00000241048', 'score': 550.77}, {'connected_gene': 'PFN2', 'score': 11.88}, {'connected_gene': 'ANKUB1', 'score': 11.86}, {'connected_gene': 'ENSG00000242791', 'score': 11.85}, {'connected_gene': 'TSC22D2', 'score': 11.09}, {'connected_gene': 'LINC01998', 'score': 9.58}, {'connected_gene': 'LINC01213', 'score': 0.39}]