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
ENST00000380794 [[25383721, 25384621], [25387509, 25387661], [25388504, 25388554], [25391366, 25391559]] [[25383949, 25384621], [25387509, 25387641]]
ENST00000405623 [[25383783, 25384621], [25387509, 25387691], [25391366, 25391772]] [[25383949, 25384621], [25387509, 25387641]]
ENST00000264708 [[25383853, 25384621], [25387509, 25387691], [25388504, 25388554], [25391366, 25391440]] [[25383949, 25384621], [25387509, 25387641]]
ENST00000395826 [[25383921, 25384621], [25387509, 25387661], [25391366, 25391473]] [[25383949, 25384621], [25387509, 25387641]]
ENST00000449220 [[25384014, 25384621], [25387509, 25387661], [25388504, 25388554], [25391366, 25391440]] [[25384014, 25384621], [25387509, 25387641]]
NM_001319204 [[25383721, 25384621], [25387509, 25387691], [25388504, 25388554], [25391366, 25391720]] [[25383949, 25384621], [25387509, 25387641]]
NM_001035256 [[25383721, 25384621], [25387509, 25387661], [25388504, 25388554], [25391366, 25391720]] [[25383949, 25384621], [25387509, 25387641]]
NM_001319205 [[25383721, 25384621], [25387509, 25387691], [25391366, 25391720]] [[25383949, 25384621], [25387509, 25387641]]
NM_000939 [[25383721, 25384621], [25387509, 25387661], [25391366, 25391720]] [[25383949, 25384621], [25387509, 25387641]]
Promoter
Chrom Start End Description
chr2 25383828 25383855 CAGE_peak_4_at_POMC_5end
chr2 25383910 25383918 CAGE_peak_17_at_POMC_5end
chr2 25384437 25384458 CAGE_peak_3_at_POMC_5end
chr2 25384459 25384524 CAGE_peak_2_at_POMC_5end
chr2 25391399 25391417 CAGE_peak_8_at_POMC_5end
chr2 25391425 25391439 CAGE_peak_10_at_POMC_5end
chr2 25391442 25391456 CAGE_peak_1_at_POMC_5end
chr2 25391468 25391485 CAGE_peak_5_at_POMC_5end
chr2 25391507 25391519 CAGE_peak_9_at_POMC_5end
chr2 25391657 25391666 CAGE_peak_14_at_POMC_5end
chr2 25391815 25391821 CAGE_peak_13_at_POMC_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I025128 25128917 25129881 1.13 [{'connected_gene': 'ASXL2', 'score': 14.09}, {'connected_gene': 'ENSG00000271936', 'score': 10.09}, {'connected_gene': 'POMC', 'score': 6.55}, {'connected_gene': 'EFR3B', 'score': 4.63}, {'connected_gene': 'RPS2P15', 'score': 4.17}, {'connected_gene': 'DNMT3A', 'score': 2.78}, {'connected_gene': 'DNAJC27', 'score': 1.16}, {'connected_gene': 'PIR39938', 'score': 0.44}, {'connected_gene': 'GC02P025140', 'score': 0.44}, {'connected_gene': 'SUCLA2P3', 'score': 0.25}, {'connected_gene': 'GC02M025128', 'score': 0.13}]
chr2 GH02I024805 24805932 24806081 0.94 [{'connected_gene': 'ATAD2B', 'score': 10.64}, {'connected_gene': 'NCOA1', 'score': 10.14}, {'connected_gene': 'ADCY3', 'score': 10.07}, {'connected_gene': 'ITSN2', 'score': 9.64}, {'connected_gene': 'POMC', 'score': 4.68}, {'connected_gene': 'PTRHD1', 'score': 0.39}, {'connected_gene': 'PIR51987', 'score': 0.39}, {'connected_gene': 'CENPO', 'score': 0.39}]
chr2 GH02I025044 25044533 25045627 0.43 [{'connected_gene': 'POMC', 'score': 10.8}, {'connected_gene': 'DNAJC27-AS1', 'score': 10.64}, {'connected_gene': 'DNAJC27', 'score': 10.64}, {'connected_gene': 'RPS13P5', 'score': 10.63}, {'connected_gene': 'ENSG00000202479', 'score': 10.63}, {'connected_gene': 'ADCY3', 'score': 4.47}, {'connected_gene': 'EFR3B', 'score': 0.77}, {'connected_gene': 'RN7SL856P', 'score': 0.39}]
chr2 GH02I024986 24986319 24986859 0.31 [{'connected_gene': 'POMC', 'score': 11.2}, {'connected_gene': 'EFR3B', 'score': 10.89}, {'connected_gene': 'LINC01381', 'score': 10.18}, {'connected_gene': 'ADCY3', 'score': 4.97}, {'connected_gene': 'DNAJC27', 'score': 0.39}, {'connected_gene': 'DNAJC27-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000207069', 'score': 0.34}, {'connected_gene': 'GC02M025008', 'score': 0.34}]
chr2 GH02I025037 25037580 25038673 0.38 [{'connected_gene': 'POMC', 'score': 10.35}, {'connected_gene': 'ADCY3', 'score': 4.28}, {'connected_gene': 'EFR3B', 'score': 0.77}, {'connected_gene': 'ENSG00000207069', 'score': 0.31}, {'connected_gene': 'GC02M025008', 'score': 0.31}, {'connected_gene': 'DNAJC27-AS1', 'score': 0.2}]
chr2 GH02I025349 25349175 25350161 0.38 [{'connected_gene': 'POMC', 'score': 6.28}, {'connected_gene': 'ADCY3', 'score': 4.16}, {'connected_gene': 'GC02P025342', 'score': 0.44}, {'connected_gene': 'GC02M025370', 'score': 0.34}]
chr2 GH02I025165 25165986 25166487 0.64 [{'connected_gene': 'POMC', 'score': 22.83}, {'connected_gene': 'ADCY3', 'score': 6.78}, {'connected_gene': 'GC02M025162', 'score': 0.44}, {'connected_gene': 'GC02M025161', 'score': 0.44}, {'connected_gene': 'GC02M025128', 'score': 0.16}]
chr2 GH02I025196 25196272 25196800 1.12 [{'connected_gene': 'POMC', 'score': 8.61}, {'connected_gene': 'LINC01381', 'score': 0.44}, {'connected_gene': 'GC02M025128', 'score': 0.21}]
chr2 GH02I025307 25307259 25308059 0.52 [{'connected_gene': 'POMC', 'score': 4.36}, {'connected_gene': 'MIR1301', 'score': 0.34}, {'connected_gene': 'DNMT3A', 'score': 0.29}, {'connected_gene': 'GC02M025128', 'score': 0.25}]
chr2 GH02I025168 25168763 25168822 0.68 [{'connected_gene': 'POMC', 'score': 550.77}, {'connected_gene': 'GC02M025162', 'score': 0.44}, {'connected_gene': 'GC02M025161', 'score': 0.44}, {'connected_gene': 'GC02M025128', 'score': 0.17}]
chr2 GH02I025361 25361592 25363656 1.21 [{'connected_gene': 'POMC', 'score': 6.52}, {'connected_gene': 'GC02M025370', 'score': 0.44}, {'connected_gene': 'GC02P025342', 'score': 0.34}]
chr2 GH02I025169 25168570 25168629 0.68 [{'connected_gene': 'POMC', 'score': 550.77}, {'connected_gene': 'GC02M025162', 'score': 0.44}, {'connected_gene': 'GC02M025161', 'score': 0.44}, {'connected_gene': 'GC02M025128', 'score': 0.17}]
chr2 GH02I024970 24970449 24974021 2.3 [{'connected_gene': 'DNAJC27', 'score': 557.15}, {'connected_gene': 'DNAJC27-AS1', 'score': 550.77}, {'connected_gene': 'ADCY3', 'score': 37.72}, {'connected_gene': 'ASXL2', 'score': 14.78}, {'connected_gene': 'WDCP', 'score': 11.46}, {'connected_gene': 'EFR3B', 'score': 11.4}, {'connected_gene': 'LINC01381', 'score': 11.08}, {'connected_gene': 'POMC', 'score': 10.81}, {'connected_gene': 'PTRHD1', 'score': 6.48}, {'connected_gene': 'ENSG00000207069', 'score': 0.28}, {'connected_gene': 'GC02M025008', 'score': 0.28}]
chr2 GH02I025301 25301271 25307161 1.46 [{'connected_gene': 'DNAJC27', 'score': 4.61}, {'connected_gene': 'POMC', 'score': 4.01}, {'connected_gene': 'DNMT3A', 'score': 1.35}, {'connected_gene': 'MIR1301', 'score': 0.34}, {'connected_gene': 'GC02M025128', 'score': 0.25}]
chr2 GH02I025197 25197321 25199323 0.46 [{'connected_gene': 'DNAJC27', 'score': 11.19}, {'connected_gene': 'ENSG00000242628', 'score': 10.13}, {'connected_gene': 'LINC01381', 'score': 0.44}, {'connected_gene': 'POMC', 'score': 0.31}, {'connected_gene': 'GC02M025128', 'score': 0.21}]
chr2 GH02I024816 24816312 24818128 0.99 [{'connected_gene': 'PTRHD1', 'score': 21.89}, {'connected_gene': 'CENPO', 'score': 20.27}, {'connected_gene': 'ADCY3', 'score': 8.2}, {'connected_gene': 'NCOA1', 'score': 5.93}, {'connected_gene': 'POMC', 'score': 4.51}, {'connected_gene': 'PIR51987', 'score': 0.77}]
chr2 GH02I024975 24975401 24975801 1 [{'connected_gene': 'EFR3B', 'score': 11.17}, {'connected_gene': 'LINC01381', 'score': 11.08}, {'connected_gene': 'POMC', 'score': 10.81}, {'connected_gene': 'ADCY3', 'score': 10.69}, {'connected_gene': 'DNAJC27', 'score': 10.42}, {'connected_gene': 'DNAJC27-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000207069', 'score': 0.29}, {'connected_gene': 'GC02M025008', 'score': 0.29}]
chr2 GH02I025649 25649358 25652084 1.57 [{'connected_gene': 'DTNB', 'score': 567.74}, {'connected_gene': 'POMC', 'score': 9.9}, {'connected_gene': 'RAB10', 'score': 2.04}, {'connected_gene': 'GC02P025633', 'score': 0.37}]
chr2 GH02I025249 25249701 25254300 2.41 [{'connected_gene': 'DNMT3A', 'score': 550.16}, {'connected_gene': 'POMC', 'score': 11.13}, {'connected_gene': 'ADCY3', 'score': 4.73}, {'connected_gene': 'EFR3B', 'score': 1.8}, {'connected_gene': 'GC02P025255', 'score': 0.77}, {'connected_gene': 'GC02M025128', 'score': 0.44}, {'connected_gene': 'PIR34629', 'score': 0.34}, {'connected_gene': 'GC02M025233', 'score': 0.34}]
chr2 GH02I025516 25516412 25517922 0.63 [{'connected_gene': 'DNMT3A', 'score': 11.68}, {'connected_gene': 'LOC101929272', 'score': 11.05}, {'connected_gene': 'DTNB', 'score': 11.0}, {'connected_gene': 'POMC', 'score': 4.2}, {'connected_gene': 'GC02P025491', 'score': 0.31}, {'connected_gene': 'GC02P025633', 'score': 0.13}]
chr2 GH02I025077 25077931 25079185 1.31 [{'connected_gene': 'ADCY3', 'score': 17.04}, {'connected_gene': 'POMC', 'score': 10.85}, {'connected_gene': 'LINC01381', 'score': 9.91}, {'connected_gene': 'SUCLA2P3', 'score': 0.77}, {'connected_gene': 'RN7SL856P', 'score': 0.34}, {'connected_gene': 'EFR3B', 'score': 0.28}]
chr2 GH02I025090 25090715 25091779 0.38 [{'connected_gene': 'ADCY3', 'score': 14.01}, {'connected_gene': 'POMC', 'score': 5.26}, {'connected_gene': 'SUCLA2P3', 'score': 0.44}, {'connected_gene': 'GC02P025140', 'score': 0.25}, {'connected_gene': 'EFR3B', 'score': 0.25}, {'connected_gene': 'PIR39938', 'score': 0.25}]
chr2 GH02I025097 25097749 25099589 0.94 [{'connected_gene': 'ADCY3', 'score': 14.49}, {'connected_gene': 'POMC', 'score': 5.93}, {'connected_gene': 'SUCLA2P3', 'score': 0.37}, {'connected_gene': 'GC02P025140', 'score': 0.26}, {'connected_gene': 'PIR39938', 'score': 0.26}, {'connected_gene': 'EFR3B', 'score': 0.22}]
chr2 GH02I024978 24978772 24978921 0.31 [{'connected_gene': 'ADCY3', 'score': 15.64}, {'connected_gene': 'EFR3B', 'score': 11.43}, {'connected_gene': 'POMC', 'score': 10.81}, {'connected_gene': 'LINC01381', 'score': 10.44}, {'connected_gene': 'DNAJC27-AS1', 'score': 0.44}, {'connected_gene': 'DNAJC27', 'score': 0.44}, {'connected_gene': 'ENSG00000207069', 'score': 0.29}, {'connected_gene': 'GC02M025008', 'score': 0.29}]
chr2 GH02I024984 24984566 24985601 0.46 [{'connected_gene': 'ADCY3', 'score': 36.97}, {'connected_gene': 'EFR3B', 'score': 11.45}, {'connected_gene': 'POMC', 'score': 10.81}, {'connected_gene': 'LINC01381', 'score': 10.44}, {'connected_gene': 'DNAJC27-AS1', 'score': 0.39}, {'connected_gene': 'DNAJC27', 'score': 0.39}, {'connected_gene': 'ENSG00000207069', 'score': 0.34}, {'connected_gene': 'GC02M025008', 'score': 0.34}]
chr2 GH02I025061 25061828 25065228 0.6 [{'connected_gene': 'ADCY3', 'score': 35.34}, {'connected_gene': 'EFR3B', 'score': 11.95}, {'connected_gene': 'POMC', 'score': 10.89}, {'connected_gene': 'RPS13P5', 'score': 10.7}, {'connected_gene': 'ENSG00000202479', 'score': 10.7}, {'connected_gene': 'DNAJC27-AS1', 'score': 10.7}, {'connected_gene': 'DNAJC27', 'score': 10.7}, {'connected_gene': 'NCOA1', 'score': 9.3}, {'connected_gene': 'RN7SL856P', 'score': 0.44}, {'connected_gene': 'SUCLA2P3', 'score': 0.37}]
chr2 GH02I025054 25054605 25057668 0.67 [{'connected_gene': 'RN7SL856P', 'score': 550.77}, {'connected_gene': 'ADCY3', 'score': 20.11}, {'connected_gene': 'POMC', 'score': 10.76}, {'connected_gene': 'DNAJC27-AS1', 'score': 10.61}, {'connected_gene': 'DNAJC27', 'score': 10.61}, {'connected_gene': 'RPS13P5', 'score': 10.6}, {'connected_gene': 'ENSG00000202479', 'score': 10.6}, {'connected_gene': 'EFR3B', 'score': 0.39}]
chr2 GH02I025239 25239386 25241188 0.2 [{'connected_gene': 'LINC01381', 'score': 12.54}, {'connected_gene': 'POMC', 'score': 11.43}, {'connected_gene': 'DNAJC27-AS1', 'score': 9.81}, {'connected_gene': 'DNAJC27', 'score': 9.81}, {'connected_gene': 'RPS13P5', 'score': 9.81}, {'connected_gene': 'ENSG00000202479', 'score': 9.81}, {'connected_gene': 'ADCY3', 'score': 5.09}, {'connected_gene': 'PIR34629', 'score': 0.44}, {'connected_gene': 'GC02M025233', 'score': 0.44}, {'connected_gene': 'GC02P025255', 'score': 0.37}, {'connected_gene': 'GC02M025128', 'score': 0.37}, {'connected_gene': 'DNMT3A', 'score': 0.15}]
chr2 GH02I025243 25243404 25244457 0.31 [{'connected_gene': 'LINC01381', 'score': 12.54}, {'connected_gene': 'POMC', 'score': 11.42}, {'connected_gene': 'RPS13P5', 'score': 9.81}, {'connected_gene': 'ENSG00000202479', 'score': 9.81}, {'connected_gene': 'DNAJC27-AS1', 'score': 9.81}, {'connected_gene': 'DNAJC27', 'score': 9.81}, {'connected_gene': 'PIR34629', 'score': 0.39}, {'connected_gene': 'GC02P025255', 'score': 0.39}, {'connected_gene': 'GC02M025233', 'score': 0.39}, {'connected_gene': 'GC02M025128', 'score': 0.39}, {'connected_gene': 'DNMT3A', 'score': 0.15}]
chr2 GH02I025194 25194655 25195038 0.31 [{'connected_gene': 'LINC01381', 'score': 0.44}, {'connected_gene': 'POMC', 'score': 0.31}, {'connected_gene': 'GC02M025128', 'score': 0.21}]
chr2 GH02I025184 25184412 25184561 0.66 [{'connected_gene': 'LINC01381', 'score': 0.37}, {'connected_gene': 'POMC', 'score': 0.37}, {'connected_gene': 'GC02M025128', 'score': 0.19}]
chr2 GH02I025192 25192184 25192980 0.31 [{'connected_gene': 'LINC01381', 'score': 0.39}, {'connected_gene': 'POMC', 'score': 0.34}, {'connected_gene': 'GC02M025128', 'score': 0.2}]
chr2 GH02I025201 25201244 25203150 0.52 [{'connected_gene': 'LINC01381', 'score': 0.77}, {'connected_gene': 'POMC', 'score': 0.29}, {'connected_gene': 'GC02M025128', 'score': 0.22}]
chr2 GH02I025310 25310168 25316865 1.28 [{'connected_gene': 'LOC101929272', 'score': 11.01}, {'connected_gene': 'DTNB', 'score': 10.92}, {'connected_gene': 'POMC', 'score': 4.53}, {'connected_gene': 'MIR1301', 'score': 0.37}, {'connected_gene': 'DNMT3A', 'score': 0.31}, {'connected_gene': 'GC02M025128', 'score': 0.23}]
chr2 GH02I025322 25322986 25323784 1.03 [{'connected_gene': 'LOC101929272', 'score': 10.63}, {'connected_gene': 'DTNB', 'score': 10.53}, {'connected_gene': 'POMC', 'score': 4.44}, {'connected_gene': 'MIR1301', 'score': 0.44}, {'connected_gene': 'DNMT3A', 'score': 0.37}, {'connected_gene': 'GC02M025128', 'score': 0.21}]
chr2 GH02I025272 25272584 25281271 1.58 [{'connected_gene': 'MIR1301', 'score': 12.11}, {'connected_gene': 'POMC', 'score': 5.72}, {'connected_gene': 'DNAJC27', 'score': 3.48}, {'connected_gene': 'GC02M025128', 'score': 0.37}, {'connected_gene': 'DNMT3A', 'score': 0.2}]
chr2 GH02I025288 25288801 25292042 0.94 [{'connected_gene': 'MIR1301', 'score': 12.11}, {'connected_gene': 'LINC01381', 'score': 11.02}, {'connected_gene': 'POMC', 'score': 4.63}, {'connected_gene': 'GC02M025128', 'score': 0.29}, {'connected_gene': 'DNMT3A', 'score': 0.23}]
chr2 GH02I025159 25159711 25160747 0.38 [{'connected_gene': 'GC02M025162', 'score': 550.77}, {'connected_gene': 'GC02M025161', 'score': 550.77}, {'connected_gene': 'POMC', 'score': 19.53}, {'connected_gene': 'PIR37447', 'score': 0.77}, {'connected_gene': 'GC02M025128', 'score': 0.15}]
chr2 GH02I025160 25160755 25162150 0.69 [{'connected_gene': 'GC02M025162', 'score': 550.77}, {'connected_gene': 'GC02M025161', 'score': 550.77}, {'connected_gene': 'POMC', 'score': 23.31}, {'connected_gene': 'GC02M025128', 'score': 0.15}]
chr2 GH02I025228 25228372 25231543 1.2 [{'connected_gene': 'PIR34629', 'score': 550.77}, {'connected_gene': 'GC02M025233', 'score': 550.77}, {'connected_gene': 'ITSN2', 'score': 13.85}, {'connected_gene': 'ASXL2', 'score': 11.42}, {'connected_gene': 'DNMT3A', 'score': 11.35}, {'connected_gene': 'RPS2P15', 'score': 9.81}, {'connected_gene': 'POMC', 'score': 7.64}, {'connected_gene': 'ADCY3', 'score': 6.01}, {'connected_gene': 'GC02P025214', 'score': 0.37}, {'connected_gene': 'GC02M025128', 'score': 0.31}]
chr2 GH02I024828 24826512 24826681 0.43 [{'connected_gene': 'ENSG00000271936', 'score': 550.77}, {'connected_gene': 'PIR41872', 'score': 550.77}, {'connected_gene': 'PIR40963', 'score': 550.77}, {'connected_gene': 'ADCY3', 'score': 11.25}, {'connected_gene': 'PTRHD1', 'score': 11.18}, {'connected_gene': 'CENPO', 'score': 11.18}, {'connected_gene': 'NCOA1', 'score': 10.88}, {'connected_gene': 'DNAJC27', 'score': 10.16}, {'connected_gene': 'RPS13P5', 'score': 10.16}, {'connected_gene': 'ENSG00000202479', 'score': 10.16}, {'connected_gene': 'DNAJC27-AS1', 'score': 10.16}, {'connected_gene': 'ITSN2', 'score': 9.73}, {'connected_gene': 'ENSG00000242628', 'score': 9.6}, {'connected_gene': 'POMC', 'score': 4.67}]

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