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
ENST00000524719 [[144694787, 144695465], [144695693, 144695777]] [[144695354, 144695465], [144695693, 144695777]]
ENST00000528920 [[144694787, 144695135], [144695365, 144695465], [144695693, 144695987], [144696333, 144696555]] None
ENST00000529064 [[144694787, 144695135], [144695365, 144695465], [144695693, 144695773], [144695920, 144695987], [144696333, 144696398], [144696489, 144696623], [144696793, 144696867], [144696956, 144697085], [144698275, 144698390], [144698736, 144698893], [144699597, 144699652]] [[144695079, 144695135], [144695365, 144695465], [144695693, 144695773], [144695920, 144695987], [144696333, 144696398], [144696489, 144696623], [144696793, 144696867], [144696956, 144697085], [144698275, 144698390], [144698736, 144698882]]
ENST00000531473 [[144694787, 144695135], [144695365, 144695465], [144695693, 144695773], [144695920, 144695987], [144696333, 144696398], [144696489, 144696867], [144696956, 144697085], [144698275, 144698390], [144698736, 144699674]] None
ENST00000425753 [[144694787, 144695135], [144695365, 144695465], [144695693, 144695773], [144695920, 144695987], [144696333, 144696398], [144696489, 144696623], [144696793, 144696867], [144696956, 144697085], [144698275, 144698390], [144698736, 144698893], [144699643, 144699736]] [[144695079, 144695135], [144695365, 144695465], [144695693, 144695773], [144695920, 144695987], [144696333, 144696398], [144696489, 144696623], [144696793, 144696867], [144696956, 144697085], [144698275, 144698390], [144698736, 144698882]]
ENST00000527677 [[144694790, 144695135], [144695365, 144695561]] None
ENST00000529048 [[144695698, 144695773], [144695920, 144695987], [144696333, 144696398], [144696489, 144696623], [144696793, 144696867], [144696956, 144697085], [144698275, 144698390], [144698736, 144698893], [144699591, 144699644]] [[144695698, 144695773], [144695920, 144695987], [144696333, 144696398], [144696489, 144696623], [144696793, 144696867], [144696956, 144697085], [144698275, 144698390], [144698736, 144698882]]
ENST00000532308 [[144695939, 144695987], [144696333, 144696398], [144696489, 144696867], [144696956, 144697085], [144698275, 144698390], [144698736, 144698893], [144699643, 144699702]] None
ENST00000533817 [[144696491, 144696623], [144696793, 144696867], [144696956, 144697085], [144698275, 144698390], [144698736, 144698893], [144699206, 144699470]] [[144696491, 144696623], [144696793, 144696867], [144696956, 144697085], [144698275, 144698390], [144698736, 144698882]]
ENST00000530474 [[144696533, 144696623], [144696793, 144696867], [144696956, 144697085], [144698275, 144698610], [144698736, 144698893], [144699643, 144699681]] [[144698408, 144698610], [144698736, 144698882]]
ENST00000525274 [[144696574, 144696841], [144696956, 144697085], [144698275, 144698390], [144698736, 144698896]] None
ENST00000527549 [[144696816, 144697085], [144698275, 144698390], [144698736, 144698893], [144699643, 144699677]] None
ENST00000526290 [[144696990, 144697085], [144698275, 144698390], [144698736, 144698893], [144700097, 144700218]] [[144696990, 144697085], [144698275, 144698390], [144698736, 144698882]]
ENST00000527006 [[144697032, 144697085], [144698275, 144698634]] [[144697032, 144697085], [144698275, 144698634]]
ENST00000529899 [[144698055, 144698390], [144698736, 144698893], [144699643, 144699719]] None
ENST00000531006 [[144698112, 144698893], [144699643, 144699722]] None
NM_001317783 [[144694787, 144695135], [144695365, 144695465], [144695693, 144695773], [144695920, 144695987], [144696333, 144696398], [144696489, 144696623], [144696793, 144696867], [144696956, 144697085], [144698275, 144698390], [144698736, 144698893], [144699597, 144699649]] [[144695079, 144695135], [144695365, 144695465], [144695693, 144695773], [144695920, 144695987], [144696333, 144696398], [144696489, 144696623], [144696793, 144696867], [144696956, 144697085], [144698275, 144698390], [144698736, 144698893], [144699597, 144699604]]
NM_003313 [[144694787, 144695135], [144695365, 144695465], [144695693, 144695773], [144695920, 144695987], [144696333, 144696398], [144696489, 144696623], [144696793, 144696867], [144696956, 144697085], [144698275, 144698390], [144698736, 144698893], [144699643, 144699732]] [[144695079, 144695135], [144695365, 144695465], [144695693, 144695773], [144695920, 144695987], [144696333, 144696398], [144696489, 144696623], [144696793, 144696867], [144696956, 144697085], [144698275, 144698390], [144698736, 144698882]]
Promoter
Chrom Start End Description
chr8 144699244 144699249 CAGE_peak_14_at_TSTA3_5end
chr8 144699250 144699255 CAGE_peak_13_at_TSTA3_5end
chr8 144699260 144699269 CAGE_peak_11_at_TSTA3_5end
chr8 144699628 144699656 CAGE_peak_2_at_TSTA3_5end
chr8 144699668 144699737 CAGE_peak_1_at_TSTA3_5end
chr8 144700212 144700224 CAGE_peak_7_at_TSTA3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I143615 143615064 143618866 2.02 [{'connected_gene': 'TSTA3', 'score': 550.77}, {'connected_gene': 'LOC105375798', 'score': 28.97}, {'connected_gene': 'NAPRT', 'score': 12.16}, {'connected_gene': 'TSSK5P', 'score': 10.75}, {'connected_gene': 'GSDMD', 'score': 7.45}, {'connected_gene': 'MROH6', 'score': 6.13}, {'connected_gene': 'PYCR3', 'score': 0.44}]
chr8 GH08I142776 142776465 142778576 1.84 [{'connected_gene': 'LYNX1', 'score': 602.95}, {'connected_gene': 'LYNX1-SLURP2', 'score': 550.77}, {'connected_gene': 'THEM6', 'score': 7.04}, {'connected_gene': 'TSTA3', 'score': 5.28}, {'connected_gene': 'SLURP2', 'score': 0.44}]
chr8 GH08I143632 143632539 143633000 0.77 [{'connected_gene': 'LOC105375798', 'score': 0.77}, {'connected_gene': 'TSTA3', 'score': 0.39}]
chr8 GH08I143275 143275808 143282340 2.12 [{'connected_gene': 'MINCR', 'score': 30.32}, {'connected_gene': 'ZNF623', 'score': 23.03}, {'connected_gene': 'GPAA1', 'score': 21.9}, {'connected_gene': 'PARP10', 'score': 21.24}, {'connected_gene': 'ENSG00000255050', 'score': 19.67}, {'connected_gene': 'ZNF707', 'score': 17.22}, {'connected_gene': 'ZFP41', 'score': 13.95}, {'connected_gene': 'EEF1D', 'score': 13.15}, {'connected_gene': 'ZC3H3', 'score': 12.57}, {'connected_gene': 'RHPN1', 'score': 11.44}, {'connected_gene': 'SHARPIN', 'score': 10.36}, {'connected_gene': 'FAM83H-AS1', 'score': 8.13}, {'connected_gene': 'TOP1MT', 'score': 5.92}, {'connected_gene': 'TIGD5', 'score': 3.54}, {'connected_gene': 'GLI4', 'score': 3.12}, {'connected_gene': 'LY6E', 'score': 2.33}, {'connected_gene': 'PYCR3', 'score': 2.09}, {'connected_gene': 'NAPRT', 'score': 1.9}, {'connected_gene': 'TSTA3', 'score': 1.86}, {'connected_gene': 'ENSG00000264668', 'score': 0.29}]

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