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
ENST00000333628 [[3153902, 3155157], [3155858, 3155969], [3156277, 3156386], [3157640, 3157760]] [[3154096, 3155157], [3155858, 3155969], [3156277, 3156386], [3157640, 3157697]]
ENST00000489942 [[3154812, 3155289], [3155858, 3155969], [3156277, 3156386], [3157640, 3157760]] None
NM_001310315 [[3153899, 3155289], [3155858, 3155969], [3156277, 3156386], [3157640, 3157783]] [[3154096, 3155179]]
NM_001069 [[3153899, 3155157], [3155858, 3155969], [3156277, 3156386], [3157640, 3157783]] [[3154096, 3155157], [3155858, 3155969], [3156277, 3156386], [3157640, 3157697]]
Promoter
Chrom Start End Description
chr6 3157770 3157784 CAGE_peak_1_at_TUBB2A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 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}]