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
ENST00000259818 [[3224494, 3226045], [3226392, 3226503], [3226794, 3226903], [3227720, 3227969]] [[3224984, 3226045], [3226392, 3226503], [3226794, 3226903], [3227720, 3227777]]
ENST00000473006 [[3224516, 3226045], [3226392, 3226503], [3226794, 3226903], [3231790, 3231964]] None
NM_178012 [[3224494, 3226045], [3226392, 3226503], [3226794, 3226903], [3227720, 3227968]] [[3224984, 3226045], [3226392, 3226503], [3226794, 3226903], [3227720, 3227777]]
Promoter
Chrom Start End Description
chr6 3226653 3226665 CAGE_peak_6_at_TUBB2B_5end
chr6 3227877 3227894 CAGE_peak_1_at_TUBB2B_5end
chr6 3231965 3231980 CAGE_peak_2_at_TUBB2B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I003337 3337202 3342717 1.43 [{'connected_gene': 'PRPF4B', 'score': 35.42}, {'connected_gene': 'PSMG4', 'score': 21.97}, {'connected_gene': 'SLC22A23', 'score': 11.12}, {'connected_gene': 'RIPK1', 'score': 10.19}, {'connected_gene': 'TUBB2B', 'score': 9.9}, {'connected_gene': 'ENSG00000272320', 'score': 5.99}, {'connected_gene': 'WRNIP1', 'score': 5.47}, {'connected_gene': 'GC06M003328', 'score': 0.39}, {'connected_gene': 'GC06M003358', 'score': 0.2}]
chr6 GH06I003073 3073562 3077179 1.42 [{'connected_gene': 'RIPK1', 'score': 564.17}, {'connected_gene': 'GC06P003076', 'score': 550.77}, {'connected_gene': 'BPHL', 'score': 12.79}, {'connected_gene': 'TUBB2B', 'score': 10.65}, {'connected_gene': 'PSMG4', 'score': 10.65}, {'connected_gene': 'TUBB2A', 'score': 4.9}, {'connected_gene': 'GC06M003076', 'score': 0.77}, {'connected_gene': 'ENSG00000272277', 'score': 0.44}]
chr6 GH06I003242 3242886 3243140 0.22 [{'connected_gene': 'TUBB2A', 'score': 12.57}, {'connected_gene': 'BPHL', 'score': 11.17}, {'connected_gene': 'ENSG00000228170', 'score': 10.87}, {'connected_gene': 'TUBB2B', 'score': 3.02}, {'connected_gene': 'PSMG4', 'score': 0.39}, {'connected_gene': 'PIR45758', 'score': 0.34}]
chr6 GH06I003246 3246622 3249686 1.53 [{'connected_gene': 'TUBB2A', 'score': 20.87}, {'connected_gene': 'TUBB2B', 'score': 17.06}, {'connected_gene': 'ENSG00000228170', 'score': 11.32}, {'connected_gene': 'BPHL', 'score': 10.93}, {'connected_gene': 'SLC22A23', 'score': 2.0}, {'connected_gene': 'PIR45758', 'score': 0.37}, {'connected_gene': 'PSMG4', 'score': 0.37}]
chr6 GH06I003171 3171485 3173085 0.85 [{'connected_gene': 'TUBB2A', 'score': 43.28}, {'connected_gene': 'TUBB2B', 'score': 16.01}, {'connected_gene': 'PSMG4', 'score': 11.61}, {'connected_gene': 'BPHL', 'score': 10.88}, {'connected_gene': 'TUBB2BP1', 'score': 0.44}, {'connected_gene': 'LOC105374889', 'score': 0.39}, {'connected_gene': 'GC06M003095', 'score': 0.37}, {'connected_gene': 'GC06P003150', 'score': 0.34}]
chr6 GH06I003205 3205736 3206629 0.7 [{'connected_gene': 'TUBB2A', 'score': 11.31}, {'connected_gene': 'TUBB2B', 'score': 11.0}, {'connected_gene': 'PSMG4', 'score': 11.0}, {'connected_gene': 'GC06P003208', 'score': 0.77}, {'connected_gene': 'LINC02525', 'score': 0.39}]
chr6 GH06I003156 3156309 3167906 2.78 [{'connected_gene': 'TUBB2A', 'score': 63.25}, {'connected_gene': 'TUBB2B', 'score': 53.37}, {'connected_gene': 'TUBB2BP1', 'score': 39.52}, {'connected_gene': 'PSMG4', 'score': 32.39}, {'connected_gene': 'PRPF4B', 'score': 25.57}, {'connected_gene': 'C6orf201', 'score': 11.34}, {'connected_gene': 'RIPK1', 'score': 11.2}, {'connected_gene': 'BPHL', 'score': 10.89}, {'connected_gene': 'LOC105374889', 'score': 0.77}, {'connected_gene': 'GC06P003150', 'score': 0.39}, {'connected_gene': 'GC06M003095', 'score': 0.31}]
chr6 GH06I003117 3117503 3121143 2.25 [{'connected_gene': 'BPHL', 'score': 556.08}, {'connected_gene': 'TUBB2A', 'score': 11.71}, {'connected_gene': 'ENSG00000228170', 'score': 11.58}, {'connected_gene': 'TUBB2B', 'score': 11.3}, {'connected_gene': 'PSMG4', 'score': 11.3}, {'connected_gene': 'TUBB2BP1', 'score': 6.14}, {'connected_gene': 'GC06P003115', 'score': 0.77}, {'connected_gene': 'GC06P003150', 'score': 0.29}, {'connected_gene': 'GC06M003095', 'score': 0.19}]
chr6 GH06I003142 3142187 3143393 0.63 [{'connected_gene': 'BPHL', 'score': 11.35}, {'connected_gene': 'TUBB2B', 'score': 10.79}, {'connected_gene': 'PSMG4', 'score': 10.79}, {'connected_gene': 'GC06P003150', 'score': 0.44}, {'connected_gene': 'ENSG00000228170', 'score': 0.39}, {'connected_gene': 'GC06M003095', 'score': 0.25}]
chr6 GH06I003254 3254039 3254408 0.64 [{'connected_gene': 'SLC22A23', 'score': 15.47}, {'connected_gene': 'ENSG00000228170', 'score': 11.32}, {'connected_gene': 'BPHL', 'score': 10.92}, {'connected_gene': 'PSMG4', 'score': 9.98}, {'connected_gene': 'PIR45758', 'score': 0.44}, {'connected_gene': 'TUBB2B', 'score': 0.34}]
chr6 GH06I003349 3349163 3352023 1.78 [{'connected_gene': 'PSMG4', 'score': 4.93}, {'connected_gene': 'SLC22A23', 'score': 2.18}, {'connected_gene': 'TUBB2B', 'score': 1.34}, {'connected_gene': 'GC06M003328', 'score': 0.34}, {'connected_gene': 'GC06M003358', 'score': 0.22}]
chr6 GH06I003230 3230907 3232385 1.48 [{'connected_gene': 'PSMG4', 'score': 564.1}, {'connected_gene': 'TUBB2B', 'score': 550.77}, {'connected_gene': 'PRPF4B', 'score': 12.31}]
chr6 GH06I003280 3280786 3283177 0.72 [{'connected_gene': 'PSMG4', 'score': 19.69}, {'connected_gene': 'TUBB2B', 'score': 10.86}, {'connected_gene': 'ENSG00000228170', 'score': 9.97}, {'connected_gene': 'GC06P003292', 'score': 0.39}, {'connected_gene': 'PIR47461', 'score': 0.39}, {'connected_gene': 'SLC22A23', 'score': 0.1}]
chr6 GH06I003360 3360303 3362117 0.82 [{'connected_gene': 'PSMG4', 'score': 14.91}, {'connected_gene': 'TUBB2B', 'score': 10.1}, {'connected_gene': 'GC06M003328', 'score': 0.29}, {'connected_gene': 'GC06M003358', 'score': 0.26}, {'connected_gene': 'SLC22A23', 'score': 0.15}]
chr6 GH06I003258 3258307 3261039 2.3 [{'connected_gene': 'PSMG4', 'score': 562.51}, {'connected_gene': 'TUBB2BP1', 'score': 7.19}, {'connected_gene': 'PIR45758', 'score': 0.77}, {'connected_gene': 'TUBB2B', 'score': 0.31}]
chr6 GH06I003386 3386007 3387042 0.88 [{'connected_gene': 'TUBB2B', 'score': 4.41}, {'connected_gene': 'TUBB2A', 'score': 4.17}, {'connected_gene': 'SLC22A23', 'score': 1.84}, {'connected_gene': 'GC06M003358', 'score': 0.37}, {'connected_gene': 'GC06M003328', 'score': 0.22}]
chr6 GH06I003125 3125275 3127000 1.37 [{'connected_gene': 'TUBB2B', 'score': 17.05}, {'connected_gene': 'TUBB2A', 'score': 11.73}, {'connected_gene': 'ENSG00000228170', 'score': 11.6}, {'connected_gene': 'PSMG4', 'score': 11.31}, {'connected_gene': 'BPHL', 'score': 0.44}, {'connected_gene': 'GC06P003150', 'score': 0.34}, {'connected_gene': 'GC06M003095', 'score': 0.21}]
chr6 GH06I003176 3176167 3177290 1.09 [{'connected_gene': 'TUBB2B', 'score': 16.15}, {'connected_gene': 'TUBB2A', 'score': 14.02}, {'connected_gene': 'ENSG00000228170', 'score': 12.21}, {'connected_gene': 'PSMG4', 'score': 11.62}, {'connected_gene': 'TUBB2BP1', 'score': 0.77}, {'connected_gene': 'GC06M003095', 'score': 0.39}, {'connected_gene': 'LOC105374889', 'score': 0.37}, {'connected_gene': 'GC06P003150', 'score': 0.31}]
chr6 GH06I003226 3226192 3230241 1.7 [{'connected_gene': 'TUBB2B', 'score': 558.44}, {'connected_gene': 'LINC01011', 'score': 12.38}, {'connected_gene': 'PSMG4', 'score': 10.77}, {'connected_gene': 'WRNIP1', 'score': 10.72}, {'connected_gene': 'TUBB2BP1', 'score': 7.04}, {'connected_gene': 'GC06M003225', 'score': 0.77}, {'connected_gene': 'GC06M003227', 'score': 0.77}]
chr6 GH06I003134 3134901 3136673 0.87 [{'connected_gene': 'TUBB2B', 'score': 10.77}, {'connected_gene': 'PSMG4', 'score': 10.77}, {'connected_gene': 'GC06P003150', 'score': 0.39}, {'connected_gene': 'BPHL', 'score': 0.37}, {'connected_gene': 'GC06M003095', 'score': 0.22}]
chr6 GH06I003465 3465989 3467630 0.2 [{'connected_gene': 'TUBB2B', 'score': 9.62}, {'connected_gene': 'PSMG4', 'score': 9.62}, {'connected_gene': 'LOC643327', 'score': 0.44}, {'connected_gene': 'GC06P003478', 'score': 0.39}]
chr6 GH06I003279 3279600 3280001 1 [{'connected_gene': 'TUBB2B', 'score': 10.87}, {'connected_gene': 'PSMG4', 'score': 10.87}, {'connected_gene': 'ENSG00000228170', 'score': 9.97}, {'connected_gene': 'GC06P003292', 'score': 0.39}, {'connected_gene': 'PIR47461', 'score': 0.39}, {'connected_gene': 'SLC22A23', 'score': 0.1}]
chr6 GH06I003358 3358766 3359727 0.46 [{'connected_gene': 'TUBB2B', 'score': 10.1}, {'connected_gene': 'PSMG4', 'score': 10.1}, {'connected_gene': 'GC06M003328', 'score': 0.29}, {'connected_gene': 'GC06M003358', 'score': 0.25}, {'connected_gene': 'SLC22A23', 'score': 0.15}]
chr6 GH06I003353 3353861 3358689 1.44 [{'connected_gene': 'TUBB2B', 'score': 10.1}, {'connected_gene': 'PSMG4', 'score': 10.1}, {'connected_gene': 'GC06M003328', 'score': 0.31}, {'connected_gene': 'GC06M003358', 'score': 0.25}, {'connected_gene': 'SLC22A23', 'score': 0.15}]
chr6 GH06I003108 3108407 3110043 0.66 [{'connected_gene': 'TUBB2B', 'score': 10.48}, {'connected_gene': 'PSMG4', 'score': 10.48}, {'connected_gene': 'ENSG00000228170', 'score': 10.31}, {'connected_gene': 'TUBB2BP1', 'score': 4.67}, {'connected_gene': 'PIR43479', 'score': 0.77}, {'connected_gene': 'GC06P003088', 'score': 0.34}, {'connected_gene': 'RIPK1', 'score': 0.25}, {'connected_gene': 'GC06M003095', 'score': 0.18}]
chr6 GH06I003237 3237195 3238614 0.62 [{'connected_gene': 'TUBB2B', 'score': 0.44}, {'connected_gene': 'PSMG4', 'score': 0.44}, {'connected_gene': 'PIR45758', 'score': 0.31}]
chr6 GH06I003137 3137475 3140281 1.38 [{'connected_gene': 'TUBB2B', 'score': 44.98}, {'connected_gene': 'TUBB2BP1', 'score': 15.07}, {'connected_gene': 'BPHL', 'score': 11.45}, {'connected_gene': 'PSMG4', 'score': 10.78}, {'connected_gene': 'ENSG00000228170', 'score': 0.39}, {'connected_gene': 'GC06P003150', 'score': 0.39}, {'connected_gene': 'GC06M003095', 'score': 0.23}]
chr6 GH06I003520 3520630 3523967 0.31 [{'connected_gene': 'TUBB2B', 'score': 4.69}, {'connected_gene': 'PIR56392', 'score': 0.44}, {'connected_gene': 'GC06M003534', 'score': 0.23}]
chr6 GH06I002782 2782130 2784876 1 [{'connected_gene': 'MYLK4', 'score': 13.88}, {'connected_gene': 'ENSG00000232999', 'score': 11.66}, {'connected_gene': 'SERPINB9', 'score': 11.66}, {'connected_gene': 'PSMG4', 'score': 10.55}, {'connected_gene': 'ENSG00000272277', 'score': 9.8}, {'connected_gene': 'TUBB2B', 'score': 4.88}, {'connected_gene': 'WRNIP1', 'score': 0.37}, {'connected_gene': 'GC06P002811', 'score': 0.31}]
chr6 GH06I002521 2521920 2523916 0.63 [{'connected_gene': 'LINC02521', 'score': 10.69}, {'connected_gene': 'LINC01600', 'score': 10.69}, {'connected_gene': 'TUBB2B', 'score': 6.01}, {'connected_gene': 'GC06M002529', 'score': 0.44}, {'connected_gene': 'PIR59473', 'score': 0.34}, {'connected_gene': 'GC06M002417', 'score': 0.26}]
chr6 GH06I003088 3088118 3089492 0.4 [{'connected_gene': 'RNA5SP201', 'score': 550.77}, {'connected_gene': 'GC06P003088', 'score': 550.77}, {'connected_gene': 'TUBB2B', 'score': 4.91}, {'connected_gene': 'GC06P003080', 'score': 0.44}, {'connected_gene': 'RIPK1', 'score': 0.34}]
chr6 GH06I003194 3194326 3197186 1.19 [{'connected_gene': 'LINC02525', 'score': 550.77}, {'connected_gene': 'TUBB2B', 'score': 11.17}, {'connected_gene': 'PSMG4', 'score': 11.17}, {'connected_gene': 'GC06M003095', 'score': 0.77}]
chr6 GH06I003179 3179800 3180400 0.84 [{'connected_gene': 'TUBB2BP1', 'score': 550.77}, {'connected_gene': 'ENSG00000228170', 'score': 10.81}, {'connected_gene': 'TUBB2B', 'score': 10.6}, {'connected_gene': 'PSMG4', 'score': 10.6}, {'connected_gene': 'BPHL', 'score': 10.04}, {'connected_gene': 'GC06M003095', 'score': 0.39}, {'connected_gene': 'GC06P003150', 'score': 0.31}]
chr6 GH06I003249 3249692 3252052 1.17 [{'connected_gene': 'ENSG00000228170', 'score': 11.32}, {'connected_gene': 'BPHL', 'score': 10.92}, {'connected_gene': 'PSMG4', 'score': 9.52}, {'connected_gene': 'TUBB2BP1', 'score': 8.21}, {'connected_gene': 'PIR45758', 'score': 0.39}, {'connected_gene': 'TUBB2B', 'score': 0.37}]
chr6 GH06I003252 3252527 3252736 0.49 [{'connected_gene': 'ENSG00000228170', 'score': 11.32}, {'connected_gene': 'BPHL', 'score': 10.92}, {'connected_gene': 'PIR45758', 'score': 0.39}, {'connected_gene': 'TUBB2B', 'score': 0.34}, {'connected_gene': 'PSMG4', 'score': 0.34}]
chr6 GH06I003401 3401539 3412531 1.74 [{'connected_gene': 'GC06M003358', 'score': 550.77}, {'connected_gene': 'SLC22A23', 'score': 14.84}, {'connected_gene': 'BPHL', 'score': 2.37}, {'connected_gene': 'TUBB2B', 'score': 2.07}, {'connected_gene': 'LOC105374890', 'score': 0.77}]
chr6 GH06I003269 3269706 3271135 0.49 [{'connected_gene': 'PIR47461', 'score': 550.77}, {'connected_gene': 'PSMG4', 'score': 17.29}, {'connected_gene': 'TUBB2B', 'score': 11.95}, {'connected_gene': 'BPHL', 'score': 10.89}, {'connected_gene': 'ENSG00000228170', 'score': 10.47}, {'connected_gene': 'GC06P003292', 'score': 0.34}, {'connected_gene': 'SLC22A23', 'score': 0.09}]
chr6 GH06I003263 3263023 3263745 0.46 [{'connected_gene': 'PIR45758', 'score': 550.77}, {'connected_gene': 'PSMG4', 'score': 12.59}, {'connected_gene': 'TUBB2B', 'score': 0.29}]
chr6 GH06I003151 3151396 3152585 0.43 [{'connected_gene': 'ENSG00000228170', 'score': 550.77}, {'connected_gene': 'GC06P003150', 'score': 550.77}, {'connected_gene': 'TUBB2B', 'score': 5.65}, {'connected_gene': 'BPHL', 'score': 0.29}, {'connected_gene': 'GC06M003095', 'score': 0.28}]
chr6 GH06I003207 3207510 3210671 1.49 [{'connected_gene': 'GC06P003208', 'score': 550.77}, {'connected_gene': 'TUBB2B', 'score': 17.54}, {'connected_gene': 'PSMG4', 'score': 16.57}, {'connected_gene': 'TUBB2A', 'score': 13.02}, {'connected_gene': 'BPHL', 'score': 11.98}, {'connected_gene': 'ENSG00000228170', 'score': 10.86}, {'connected_gene': 'SERPINB9', 'score': 3.95}, {'connected_gene': 'GC06P003221', 'score': 0.39}]

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