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
ENST00000361523 [[40962151, 40962946], [40963672, 40963815], [40965965, 40966026], [40966541, 40966691], [40967925, 40968072], [40970238, 40970433], [40970561, 40970698], [40970804, 40970895], [40971565, 40971627], [40972791, 40972859], [40975765, 40975897], [40976150, 40976281]] [[40962777, 40962946], [40963672, 40963815], [40965965, 40966026], [40966541, 40966691], [40967925, 40968072], [40970238, 40970433], [40970561, 40970698], [40970804, 40970895], [40971565, 40971627], [40972791, 40972859], [40975765, 40975895]]
ENST00000590099 [[40962154, 40962946], [40963672, 40963815], [40965965, 40966026], [40966541, 40966691], [40967925, 40968072], [40970238, 40970433], [40970561, 40970698], [40970804, 40970895], [40971565, 40971627], [40972791, 40972859], [40975765, 40975897], [40976172, 40976281]] [[40962777, 40962946], [40963672, 40963815], [40965965, 40966026], [40966541, 40966691], [40967925, 40968072], [40970238, 40970433], [40970561, 40970698], [40970804, 40970895], [40971565, 40971627], [40972791, 40972859], [40975765, 40975895]]
ENST00000590764 [[40962305, 40962946], [40963672, 40963815], [40966541, 40966611]] [[40962830, 40962946], [40963672, 40963815], [40966541, 40966611]]
ENST00000438274 [[40962325, 40962946], [40965965, 40966026], [40966541, 40966691], [40967925, 40968072], [40970238, 40970433], [40971565, 40971627], [40972791, 40972859], [40975765, 40975897], [40976172, 40976305]] [[40962919, 40962946], [40965965, 40966026], [40966541, 40966691], [40967925, 40968072], [40970238, 40970433], [40971565, 40971627], [40972791, 40972859], [40975765, 40975895]]
ENST00000588276 [[40962327, 40962946], [40966541, 40966691]] [[40962777, 40962946], [40966541, 40966691]]
ENST00000543382 [[40962431, 40962946], [40963672, 40963815], [40965965, 40966026], [40966541, 40966691], [40967925, 40968072], [40970238, 40970433], [40970561, 40970698], [40970804, 40971627], [40972791, 40972859], [40975765, 40975897], [40976172, 40976305]] None
ENST00000589663 [[40962687, 40962946], [40970238, 40970433], [40970561, 40970596]] [[40962777, 40962946], [40970238, 40970433], [40970561, 40970596]]
ENST00000587880 [[40962733, 40962946], [40963672, 40963815], [40964248, 40964374], [40965965, 40966007]] [[40964248, 40964374], [40965965, 40966007]]
ENST00000590185 [[40962797, 40962946], [40963672, 40964104]] None
ENST00000586589 [[40962877, 40962946], [40965965, 40966026], [40966541, 40966691], [40967925, 40968072], [40970238, 40970433], [40970561, 40970670]] [[40962919, 40962946], [40965965, 40966026], [40966541, 40966691], [40967925, 40968072], [40970238, 40970433], [40970561, 40970670]]
ENST00000586754 [[40963741, 40963815], [40965965, 40966026], [40966541, 40966691], [40967688, 40967790], [40967925, 40968013]] [[40963741, 40963815], [40965965, 40966026], [40966541, 40966691], [40967688, 40967790], [40967925, 40968013]]
ENST00000589492 [[40965920, 40966026], [40966541, 40967032]] None
ENST00000590852 [[40966185, 40966691], [40967925, 40967989]] [[40966537, 40966691], [40967925, 40967989]]
ENST00000593205 [[40966616, 40966691], [40970238, 40970433], [40971565, 40971627], [40972791, 40972859], [40975765, 40975897], [40976172, 40976269]] [[40966616, 40966691], [40970238, 40970433], [40971565, 40971627], [40972791, 40972859], [40975765, 40975895]]
ENST00000589493 [[40967687, 40968072], [40970238, 40970433], [40970561, 40970700]] None
ENST00000591085 [[40970668, 40970698], [40970804, 40970895], [40971565, 40971627], [40972791, 40972859], [40975722, 40975897], [40976172, 40976305]] [[40972801, 40972859], [40975722, 40975895]]
ENST00000585515 [[40971341, 40971627], [40972791, 40972859], [40975765, 40975897], [40976150, 40976300]] None
ENST00000591307 [[40972368, 40972859], [40975765, 40975897], [40976150, 40976271]] None
ENST00000593112 [[40972540, 40972859], [40975765, 40975897], [40976172, 40976278]] None
ENST00000589636 [[40972811, 40972859], [40975765, 40975897], [40977192, 40977249], [40979267, 40979358], [40985134, 40985367]] [[40972811, 40972859], [40975765, 40975895]]
ENST00000591404 [[40975835, 40975897], [40976172, 40976396], [40977192, 40977249], [40985134, 40985349]] [[40975835, 40975895]]
NM_001313999 [[40962149, 40962946], [40965965, 40966026], [40966541, 40966691], [40967925, 40968072], [40970238, 40970433], [40970561, 40970698], [40970804, 40970895], [40971565, 40971627], [40972791, 40972859], [40975765, 40975897]] [[40962919, 40962946], [40965965, 40966026], [40966541, 40966691], [40967925, 40968072], [40970238, 40970433], [40970561, 40970698], [40970804, 40970895], [40971565, 40971627], [40972791, 40972859], [40975765, 40975895]]
NM_003766 [[40962149, 40962946], [40963672, 40963815], [40965965, 40966026], [40966541, 40966691], [40967925, 40968072], [40970238, 40970433], [40970561, 40970698], [40970804, 40970895], [40971565, 40971627], [40972791, 40972859], [40975765, 40975897], [40976150, 40976333]] [[40962777, 40962946], [40963672, 40963815], [40965965, 40966026], [40966541, 40966691], [40967925, 40968072], [40970238, 40970433], [40970561, 40970698], [40970804, 40970895], [40971565, 40971627], [40972791, 40972859], [40975765, 40975895]]
NM_001313998 [[40962149, 40962946], [40963672, 40963815], [40965965, 40966026], [40966541, 40966691], [40967925, 40968072], [40970238, 40970433], [40970561, 40970698], [40970804, 40970895], [40971565, 40971627], [40972791, 40972859], [40975765, 40975897], [40976172, 40976333]] [[40962777, 40962946], [40963672, 40963815], [40965965, 40966026], [40966541, 40966691], [40967925, 40968072], [40970238, 40970433], [40970561, 40970698], [40970804, 40970895], [40971565, 40971627], [40972791, 40972859], [40975765, 40975895]]
NM_001314000 [[40962149, 40962946], [40965965, 40966026], [40966541, 40966691], [40967925, 40968072], [40970238, 40970433], [40971565, 40971627], [40972791, 40972859], [40975765, 40975897], [40976172, 40976333]] [[40962919, 40962946], [40965965, 40966026], [40966541, 40966691], [40967925, 40968072], [40970238, 40970433], [40971565, 40971627], [40972791, 40972859], [40975765, 40975895]]
Promoter
Chrom Start End Description
chr17 40976266 40976315 CAGE_peak_1_at_BECN1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I042891 42891335 42895947 1.15 [{'connected_gene': 'AOC4P', 'score': 7.06}, {'connected_gene': 'BECN1', 'score': 6.35}, {'connected_gene': 'DHX58', 'score': 4.95}, {'connected_gene': 'RNU6-287P', 'score': 0.77}, {'connected_gene': 'GC17M042880', 'score': 0.44}, {'connected_gene': 'LINC00671', 'score': 0.44}]
chr17 GH17I042452 42452801 42453000 0.4 [{'connected_gene': 'BECN1', 'score': 5.69}, {'connected_gene': 'ATP6V0A1', 'score': 0.44}, {'connected_gene': 'RNU7-97P', 'score': 0.39}]
chr17 GH17I042832 42832071 42835211 2.1 [{'connected_gene': 'BECN1', 'score': 550.77}, {'connected_gene': 'PSME3', 'score': 550.44}, {'connected_gene': 'NKIRAS2', 'score': 15.45}, {'connected_gene': 'MEOX1', 'score': 14.91}, {'connected_gene': 'ENSG00000212149', 'score': 12.19}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 11.89}, {'connected_gene': 'RPL27', 'score': 11.88}, {'connected_gene': 'CNTD1', 'score': 11.6}, {'connected_gene': 'COA3', 'score': 11.6}, {'connected_gene': 'STAT3', 'score': 10.52}, {'connected_gene': 'LOC108783654', 'score': 9.75}, {'connected_gene': 'RETREG3', 'score': 9.7}, {'connected_gene': 'AOC4P', 'score': 6.29}, {'connected_gene': 'AOC2', 'score': 0.39}]
chr17 GH17I042925 42925001 42925200 0.2 [{'connected_gene': 'AOC3', 'score': 12.1}, {'connected_gene': 'AOC2', 'score': 12.09}, {'connected_gene': 'CNTD1', 'score': 10.81}, {'connected_gene': 'COA3', 'score': 10.81}, {'connected_gene': 'VAT1', 'score': 10.59}, {'connected_gene': 'RND2', 'score': 10.59}, {'connected_gene': 'BECN1', 'score': 4.77}, {'connected_gene': 'RNY4P2', 'score': 0.44}, {'connected_gene': 'GC17M042933', 'score': 0.44}, {'connected_gene': 'G6PC', 'score': 0.34}]
chr17 GH17I042885 42885967 42887269 1.35 [{'connected_gene': 'GHDC', 'score': 10.61}, {'connected_gene': 'CNTD1', 'score': 10.17}, {'connected_gene': 'COA3', 'score': 10.17}, {'connected_gene': 'MLX', 'score': 7.5}, {'connected_gene': 'STAT3', 'score': 7.21}, {'connected_gene': 'EZH1', 'score': 3.68}, {'connected_gene': 'NBR1', 'score': 3.6}, {'connected_gene': 'BECN1', 'score': 2.57}, {'connected_gene': 'RUNDC1', 'score': 2.12}, {'connected_gene': 'TMEM106A', 'score': 1.42}, {'connected_gene': 'RNU6-287P', 'score': 0.77}, {'connected_gene': 'LINC00671', 'score': 0.39}, {'connected_gene': 'GC17M042880', 'score': 0.39}, {'connected_gene': 'AOC4P', 'score': 0.34}]
chr17 GH17I042817 42817963 42818112 0.2 [{'connected_gene': 'VPS25', 'score': 11.86}, {'connected_gene': 'RAMP2', 'score': 11.82}, {'connected_gene': 'RAMP2-AS1', 'score': 11.82}, {'connected_gene': 'HMGN2P15', 'score': 11.81}, {'connected_gene': 'WNK4', 'score': 11.25}, {'connected_gene': 'AOC2', 'score': 11.09}, {'connected_gene': 'AOC3', 'score': 11.07}, {'connected_gene': 'VAT1', 'score': 10.59}, {'connected_gene': 'RND2', 'score': 10.59}, {'connected_gene': 'PIR60292', 'score': 0.44}, {'connected_gene': 'MIR6781', 'score': 0.44}, {'connected_gene': 'BECN1', 'score': 0.37}]
chr17 GH17I042814 42814414 42815949 0.59 [{'connected_gene': 'VPS25', 'score': 12.06}, {'connected_gene': 'RAMP2-AS1', 'score': 12.03}, {'connected_gene': 'RAMP2', 'score': 12.02}, {'connected_gene': 'HMGN2P15', 'score': 12.01}, {'connected_gene': 'WNK4', 'score': 11.47}, {'connected_gene': 'PIR60292', 'score': 0.77}, {'connected_gene': 'MIR6781', 'score': 0.44}, {'connected_gene': 'BECN1', 'score': 0.37}]
chr17 GH17I042820 42820063 42820232 0.73 [{'connected_gene': 'VPS25', 'score': 11.85}, {'connected_gene': 'RAMP2-AS1', 'score': 11.82}, {'connected_gene': 'RAMP2', 'score': 11.81}, {'connected_gene': 'HMGN2P15', 'score': 11.8}, {'connected_gene': 'CNTD1', 'score': 11.77}, {'connected_gene': 'COA3', 'score': 11.77}, {'connected_gene': 'WNK4', 'score': 11.23}, {'connected_gene': 'AOC2', 'score': 11.12}, {'connected_gene': 'AOC3', 'score': 11.07}, {'connected_gene': 'VAT1', 'score': 10.59}, {'connected_gene': 'RND2', 'score': 10.59}, {'connected_gene': 'MIR6781', 'score': 0.77}, {'connected_gene': 'PIR60292', 'score': 0.44}, {'connected_gene': 'BECN1', 'score': 0.39}]
chr17 GH17I042431 42431424 42433372 1.02 [{'connected_gene': 'ATP6V0A1', 'score': 12.58}, {'connected_gene': 'WNK4', 'score': 6.68}, {'connected_gene': 'BECN1', 'score': 6.5}, {'connected_gene': 'NBR2', 'score': 4.45}, {'connected_gene': 'CAVIN1', 'score': 0.44}, {'connected_gene': 'RNU7-97P', 'score': 0.44}, {'connected_gene': 'LOC102725238', 'score': 0.44}]
chr17 GH17I042456 42456222 42461244 2.29 [{'connected_gene': 'ATP6V0A1', 'score': 550.77}, {'connected_gene': 'TUBG2', 'score': 19.67}, {'connected_gene': 'NBR1', 'score': 10.06}, {'connected_gene': 'HSD17B1', 'score': 9.57}, {'connected_gene': 'MLX', 'score': 7.47}, {'connected_gene': 'BECN1', 'score': 5.84}, {'connected_gene': 'DHX58', 'score': 4.53}, {'connected_gene': 'RNU7-97P', 'score': 0.37}]
chr17 GH17I042918 42918726 42921598 0.9 [{'connected_gene': 'MLX', 'score': 5.81}, {'connected_gene': 'BECN1', 'score': 4.99}, {'connected_gene': 'RNY4P2', 'score': 0.39}, {'connected_gene': 'GC17M042933', 'score': 0.39}, {'connected_gene': 'G6PC', 'score': 0.37}]
chr17 GH17I042515 42515813 42527972 1.75 [{'connected_gene': 'MLX', 'score': 20.59}, {'connected_gene': 'TUBG2', 'score': 19.88}, {'connected_gene': 'ENSG00000267002', 'score': 15.92}, {'connected_gene': 'CAVIN1', 'score': 15.81}, {'connected_gene': 'NAGLU', 'score': 15.79}, {'connected_gene': 'ENSG00000267340', 'score': 13.59}, {'connected_gene': 'RAB5C', 'score': 12.5}, {'connected_gene': 'KAT2A', 'score': 12.26}, {'connected_gene': 'ATP6V0A1', 'score': 12.1}, {'connected_gene': 'RNU7-97P', 'score': 11.99}, {'connected_gene': 'NBR2', 'score': 11.76}, {'connected_gene': 'P3H4', 'score': 11.21}, {'connected_gene': 'CCR10', 'score': 10.68}, {'connected_gene': 'HCRT', 'score': 10.12}, {'connected_gene': 'KCNH4', 'score': 10.12}, {'connected_gene': 'BECN1', 'score': 5.85}, {'connected_gene': 'DHX58', 'score': 4.58}, {'connected_gene': 'WNK4', 'score': 2.46}, {'connected_gene': 'GC17P042517', 'score': 0.77}, {'connected_gene': 'GC17P042532', 'score': 0.39}]
chr17 GH17I042414 42414466 42416398 0.94 [{'connected_gene': 'NAGLU', 'score': 12.39}, {'connected_gene': 'BECN1', 'score': 6.44}, {'connected_gene': 'TUBG2', 'score': 5.04}, {'connected_gene': 'STAT3', 'score': 4.8}, {'connected_gene': 'HSD17B1', 'score': 4.6}, {'connected_gene': 'CAVIN1', 'score': 0.44}, {'connected_gene': 'LOC102725238', 'score': 0.44}]
chr17 GH17I042843 42843464 42843613 0.99 [{'connected_gene': 'AOC2', 'score': 550.77}, {'connected_gene': 'BECN1', 'score': 0.39}, {'connected_gene': 'PSME3', 'score': 0.37}]
chr17 GH17I042844 42844531 42844590 0.81 [{'connected_gene': 'AOC2', 'score': 550.77}, {'connected_gene': 'BECN1', 'score': 0.39}]
chr17 GH17I042419 42419366 42424521 2.53 [{'connected_gene': 'CAVIN1', 'score': 564.34}, {'connected_gene': 'LOC102725238', 'score': 550.77}, {'connected_gene': 'LINC00910', 'score': 35.8}, {'connected_gene': 'HMGN1P29', 'score': 32.86}, {'connected_gene': 'NBR2', 'score': 21.15}, {'connected_gene': 'ENSG00000267758', 'score': 20.53}, {'connected_gene': 'DHX58', 'score': 19.38}, {'connected_gene': 'PSME3', 'score': 18.3}, {'connected_gene': 'CNTD1', 'score': 15.64}, {'connected_gene': 'RETREG3', 'score': 12.99}, {'connected_gene': 'TUBG2', 'score': 12.93}, {'connected_gene': 'NAGLU', 'score': 12.48}, {'connected_gene': 'ENSG00000267340', 'score': 11.67}, {'connected_gene': 'AOC3', 'score': 11.65}, {'connected_gene': 'ACLY', 'score': 11.63}, {'connected_gene': 'ATP6V0A1', 'score': 11.44}, {'connected_gene': 'RPL27', 'score': 10.81}, {'connected_gene': 'NKIRAS2', 'score': 10.74}, {'connected_gene': 'KAT2A', 'score': 10.25}, {'connected_gene': 'PLEKHH3', 'score': 10.24}, {'connected_gene': 'VPS25', 'score': 9.71}, {'connected_gene': 'WNK4', 'score': 6.73}, {'connected_gene': 'BECN1', 'score': 6.68}, {'connected_gene': 'STAT3', 'score': 4.81}, {'connected_gene': 'GHDC', 'score': 1.89}]
chr17 GH17I042453 42453104 42454468 0.96 [{'connected_gene': 'TUBG2', 'score': 19.8}, {'connected_gene': 'MLX', 'score': 13.13}, {'connected_gene': 'BECN1', 'score': 5.79}, {'connected_gene': 'ATP6V0A1', 'score': 0.44}, {'connected_gene': 'RNU7-97P', 'score': 0.39}]
chr17 GH17I042823 42823221 42824933 2.04 [{'connected_gene': 'MIR6781', 'score': 550.77}, {'connected_gene': 'PSME3', 'score': 550.77}, {'connected_gene': 'BECN1', 'score': 550.44}, {'connected_gene': 'CNTD1', 'score': 11.97}, {'connected_gene': 'COA3', 'score': 11.97}, {'connected_gene': 'AOC2', 'score': 11.76}, {'connected_gene': 'AOC3', 'score': 11.73}, {'connected_gene': 'VPS25', 'score': 11.55}, {'connected_gene': 'RAMP2-AS1', 'score': 11.53}, {'connected_gene': 'RAMP2', 'score': 11.52}, {'connected_gene': 'HMGN2P15', 'score': 11.51}, {'connected_gene': 'WNK4', 'score': 11.41}, {'connected_gene': 'AARSD1', 'score': 11.15}, {'connected_gene': 'RUNDC1', 'score': 11.14}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 11.14}]
chr17 GH17I042528 42528937 42533400 1.45 [{'connected_gene': 'GC17P042532', 'score': 550.77}, {'connected_gene': 'PTP4A2P1', 'score': 550.77}, {'connected_gene': 'TUBG2', 'score': 20.82}, {'connected_gene': 'NAGLU', 'score': 15.89}, {'connected_gene': 'HMGN1P29', 'score': 13.87}, {'connected_gene': 'DHX8', 'score': 12.9}, {'connected_gene': 'ENSG00000267758', 'score': 12.73}, {'connected_gene': 'RETREG3', 'score': 10.72}, {'connected_gene': 'RAB5C', 'score': 10.61}, {'connected_gene': 'HSD17B1', 'score': 9.02}, {'connected_gene': 'MLX', 'score': 8.73}, {'connected_gene': 'BECN1', 'score': 5.9}, {'connected_gene': 'COASY', 'score': 4.55}, {'connected_gene': 'LINC00671', 'score': 4.12}, {'connected_gene': 'GC17P042517', 'score': 0.39}]
chr17 GH17I042472 42472645 42476694 0.54 [{'connected_gene': 'GC17P042478', 'score': 550.77}, {'connected_gene': 'MLX', 'score': 20.49}, {'connected_gene': 'RNU7-97P', 'score': 12.35}, {'connected_gene': 'CAVIN1', 'score': 11.53}, {'connected_gene': 'PSMC3IP', 'score': 10.12}, {'connected_gene': 'STAT5B', 'score': 9.82}, {'connected_gene': 'ENSG00000236194', 'score': 9.74}, {'connected_gene': 'WNK4', 'score': 6.73}, {'connected_gene': 'BECN1', 'score': 4.92}, {'connected_gene': 'ATP6V0A1', 'score': 0.37}]

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