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
ENST00000466933 [[60758084, 60758113], [60768471, 60769109]] None
ENST00000536470 [[60758092, 60758113], [60770857, 60771005], [60772907, 60773023], [60773689, 60773908], [60774174, 60774313], [60775738, 60776522]] [[60773905, 60773908], [60774174, 60774313], [60775738, 60776133]]
ENST00000471352 [[60758097, 60758113], [60768471, 60768680], [60770857, 60771005], [60772907, 60773319]] None
ENST00000436421 [[60758097, 60758113], [60768471, 60768680], [60770857, 60771005], [60775738, 60776912]] [[60768476, 60768680], [60770857, 60771005], [60775738, 60776133]]
ENST00000467101 [[60758099, 60758113], [60768471, 60768680], [60770857, 60771005], [60773689, 60773908], [60774174, 60774313], [60775738, 60777823]] [[60768476, 60768680], [60770857, 60771005], [60773689, 60773757]]
ENST00000370823 [[60758100, 60758113], [60768471, 60768680], [60770857, 60771005], [60772907, 60773023], [60773689, 60773908], [60774174, 60774313], [60775738, 60777823]] [[60768476, 60768680], [60770857, 60771005], [60772907, 60773023], [60773689, 60773908], [60774174, 60774313], [60775738, 60776133]]
ENST00000448254 [[60758106, 60758113], [60763845, 60763861], [60768471, 60768680], [60770857, 60771005], [60772907, 60773023], [60773689, 60773908], [60774174, 60774186]] [[60768476, 60768680], [60770857, 60771005], [60772907, 60773023], [60773689, 60773908], [60774174, 60774186]]
ENST00000472005 [[60768586, 60768680], [60770857, 60771005], [60772907, 60773023], [60774174, 60774313], [60775738, 60775807]] None
ENST00000466099 [[60768653, 60768680], [60770857, 60771005], [60772907, 60773023], [60773689, 60773908], [60774174, 60774313], [60775104, 60775260]] None
ENST00000461411 [[60772270, 60773023], [60773689, 60773909]] None
ENST00000471962 [[60773733, 60773908], [60774174, 60774339], [60775024, 60775322]] None
ENST00000488748 [[60777794, 60777899], [60778139, 60778624]] None
NM_015666 [[60758080, 60758113], [60768471, 60768680], [60770857, 60771005], [60772907, 60773023], [60773689, 60773908], [60774174, 60774313], [60775738, 60777823]] [[60768476, 60768680], [60770857, 60771005], [60772907, 60773023], [60773689, 60773908], [60774174, 60774313], [60775738, 60776133]]
Promoter
Chrom Start End Description
chr20 60758075 60758105 CAGE_peak_1_at_GTPBP5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I062236 62236314 62240328 2.45 [{'connected_gene': 'OSBPL2', 'score': 562.65}, {'connected_gene': 'TAF4', 'score': 27.26}, {'connected_gene': 'MRGBP', 'score': 20.44}, {'connected_gene': 'DIDO1', 'score': 19.47}, {'connected_gene': 'MTG2', 'score': 10.52}, {'connected_gene': 'ADRM1', 'score': 10.23}, {'connected_gene': 'LAMA5-AS1', 'score': 7.86}, {'connected_gene': 'CABLES2', 'score': 2.46}, {'connected_gene': 'GATA5', 'score': 1.64}, {'connected_gene': 'GC20M062290', 'score': 0.23}]
chr20 GH20I062297 62297104 62298016 0.79 [{'connected_gene': 'OSBPL2', 'score': 9.42}, {'connected_gene': 'LAMA5-AS1', 'score': 7.97}, {'connected_gene': 'MTG2', 'score': 5.36}, {'connected_gene': 'ADRM1', 'score': 0.77}, {'connected_gene': 'GC20M062290', 'score': 0.44}]
chr20 GH20I062337 62337604 62340362 1.25 [{'connected_gene': 'LAMA5', 'score': 12.69}, {'connected_gene': 'MTG2', 'score': 7.11}, {'connected_gene': 'LAMA5-AS1', 'score': 6.36}, {'connected_gene': 'MIR4758', 'score': 0.44}]
chr20 GH20I062275 62275998 62277874 0.38 [{'connected_gene': 'LAMA5', 'score': 12.05}, {'connected_gene': 'HRH3', 'score': 11.41}, {'connected_gene': 'MTG2', 'score': 11.0}, {'connected_gene': 'LAMA5-AS1', 'score': 8.13}, {'connected_gene': 'CABLES2', 'score': 4.69}, {'connected_gene': 'GC20M062290', 'score': 0.39}, {'connected_gene': 'OSBPL2', 'score': 0.25}]
chr20 GH20I062352 62352563 62371667 2.81 [{'connected_gene': 'LAMA5', 'score': 580.43}, {'connected_gene': 'LAMA5-AS1', 'score': 24.46}, {'connected_gene': 'ARFGAP1', 'score': 15.55}, {'connected_gene': 'YTHDF1', 'score': 12.39}, {'connected_gene': 'MTG2', 'score': 8.95}, {'connected_gene': 'CABLES2', 'score': 8.74}, {'connected_gene': 'OSBPL2', 'score': 8.56}, {'connected_gene': 'BHLHE23', 'score': 5.94}, {'connected_gene': 'MRGBP', 'score': 3.35}, {'connected_gene': 'ADRM1', 'score': 3.31}, {'connected_gene': 'RPS21', 'score': 2.12}, {'connected_gene': 'RBBP8NL', 'score': 1.96}, {'connected_gene': 'PSMA7', 'score': 1.85}, {'connected_gene': 'SLCO4A1', 'score': 1.82}, {'connected_gene': 'NTSR1', 'score': 1.47}, {'connected_gene': 'SS18L1', 'score': 1.19}, {'connected_gene': 'TAF4', 'score': 1.12}]
chr20 GH20I062282 62282527 62283850 0.66 [{'connected_gene': 'LAMA5', 'score': 11.74}, {'connected_gene': 'LAMA5-AS1', 'score': 7.9}, {'connected_gene': 'MTG2', 'score': 7.11}, {'connected_gene': 'CABLES2', 'score': 6.69}, {'connected_gene': 'GC20M062290', 'score': 0.44}, {'connected_gene': 'OSBPL2', 'score': 0.23}]
chr20 GH20I062156 62156703 62157620 1.02 [{'connected_gene': 'MTG2', 'score': 7.01}, {'connected_gene': 'SS18L1', 'score': 5.78}]
chr20 GH20I062181 62181759 62184792 2.3 [{'connected_gene': 'MTG2', 'score': 555.66}, {'connected_gene': 'DIDO1', 'score': 16.47}, {'connected_gene': 'RPS21', 'score': 13.32}, {'connected_gene': 'LAMA5', 'score': 11.87}, {'connected_gene': 'SS18L1', 'score': 5.72}, {'connected_gene': 'CABLES2', 'score': 1.49}, {'connected_gene': 'GATA5', 'score': 1.2}, {'connected_gene': 'PIR52239', 'score': 0.37}]
chr20 GH20I062185 62185601 62186400 0.8 [{'connected_gene': 'MTG2', 'score': 14.72}, {'connected_gene': 'PIR52239', 'score': 0.37}]
chr20 GH20I062140 62140740 62145070 2.56 [{'connected_gene': 'SS18L1', 'score': 563.59}, {'connected_gene': 'PIR42263', 'score': 550.77}, {'connected_gene': 'PSMA7', 'score': 550.77}, {'connected_gene': 'MRGBP', 'score': 20.44}, {'connected_gene': 'TAF4', 'score': 15.52}, {'connected_gene': 'DIDO1', 'score': 10.53}, {'connected_gene': 'ADRM1', 'score': 10.13}, {'connected_gene': 'MTG2', 'score': 8.67}]
chr20 GH20I062186 62186802 62188174 0.76 [{'connected_gene': 'SS18L1', 'score': 11.97}, {'connected_gene': 'PSMA7', 'score': 11.97}, {'connected_gene': 'HRH3', 'score': 11.68}, {'connected_gene': 'MTG2', 'score': 6.78}, {'connected_gene': 'PIR52239', 'score': 0.39}]
chr20 GH20I062177 62177434 62177612 0.66 [{'connected_gene': 'SS18L1', 'score': 6.11}, {'connected_gene': 'MTG2', 'score': 1.75}]
chr20 GH20I062161 62161425 62161574 0.99 [{'connected_gene': 'SS18L1', 'score': 550.37}, {'connected_gene': 'MTG2', 'score': 0.34}]
chr20 GH20I062154 62154854 62156632 1.05 [{'connected_gene': 'SS18L1', 'score': 6.68}, {'connected_gene': 'MTG2', 'score': 0.31}]
chr20 GH20I062148 62148662 62150634 0.89 [{'connected_gene': 'SS18L1', 'score': 6.79}, {'connected_gene': 'MTG2', 'score': 0.29}]
chr20 GH20I062159 62159217 62160634 0.75 [{'connected_gene': 'SS18L1', 'score': 6.12}, {'connected_gene': 'MTG2', 'score': 0.34}]
chr20 GH20I062471 62471446 62491422 1.92 [{'connected_gene': 'GATA5', 'score': 598.89}, {'connected_gene': 'LOC105372711', 'score': 550.77}, {'connected_gene': 'ARFGAP1', 'score': 15.55}, {'connected_gene': 'YTHDF1', 'score': 12.39}, {'connected_gene': 'MTG2', 'score': 5.17}, {'connected_gene': 'ENSG00000272050', 'score': 0.77}, {'connected_gene': 'GC20M062490', 'score': 0.37}]
chr20 GH20I062243 62243560 62245480 0.64 [{'connected_gene': 'HRH3', 'score': 12.73}, {'connected_gene': 'MTG2', 'score': 10.14}, {'connected_gene': 'OSBPL2', 'score': 9.47}, {'connected_gene': 'LAMA5-AS1', 'score': 6.88}, {'connected_gene': 'GC20M062290', 'score': 0.25}]
chr20 GH20I062245 62245906 62247639 0.89 [{'connected_gene': 'HRH3', 'score': 12.25}, {'connected_gene': 'LAMA5-AS1', 'score': 8.21}, {'connected_gene': 'MTG2', 'score': 6.26}, {'connected_gene': 'ENSG00000226332', 'score': 4.94}, {'connected_gene': 'OSBPL2', 'score': 0.39}, {'connected_gene': 'GC20M062290', 'score': 0.26}]
chr20 GH20I062088 62088290 62088781 1 [{'connected_gene': 'DIDO1', 'score': 38.62}, {'connected_gene': 'TAF4', 'score': 22.8}, {'connected_gene': 'MRGBP', 'score': 17.53}, {'connected_gene': 'LSM14B', 'score': 11.97}, {'connected_gene': 'MTG2', 'score': 10.91}, {'connected_gene': 'ENSG00000226332', 'score': 10.51}, {'connected_gene': 'LAMA5', 'score': 9.7}, {'connected_gene': 'OSBPL2', 'score': 5.69}, {'connected_gene': 'LOC105372705', 'score': 0.34}]
chr20 GH20I062500 62500245 62503000 1.59 [{'connected_gene': 'DIDO1', 'score': 73.03}, {'connected_gene': 'TAF4', 'score': 54.43}, {'connected_gene': 'LAMA5', 'score': 30.28}, {'connected_gene': 'ENSG00000226332', 'score': 28.86}, {'connected_gene': 'MRGBP', 'score': 25.6}, {'connected_gene': 'RPS21', 'score': 23.79}, {'connected_gene': 'HAR1A', 'score': 12.11}, {'connected_gene': 'MTG2', 'score': 10.82}, {'connected_gene': 'YTHDF1', 'score': 10.26}, {'connected_gene': 'DPH3P1', 'score': 7.25}, {'connected_gene': 'OGFR', 'score': 4.15}, {'connected_gene': 'GC20M062490', 'score': 0.77}, {'connected_gene': 'PIR36870', 'score': 0.77}]
chr20 GH20I062145 62145787 62146974 1.19 [{'connected_gene': 'DIDO1', 'score': 15.96}, {'connected_gene': 'LAMA5', 'score': 14.32}, {'connected_gene': 'TAF4', 'score': 14.12}, {'connected_gene': 'ENSG00000226332', 'score': 11.06}, {'connected_gene': 'SS18L1', 'score': 10.19}, {'connected_gene': 'MTG2', 'score': 0.28}]
chr20 GH20I062227 62227757 62228675 0.92 [{'connected_gene': 'LOC105369209', 'score': 550.77}, {'connected_gene': 'MTG2', 'score': 4.83}, {'connected_gene': 'OSBPL2', 'score': 0.77}]
chr20 GH20I062316 62316129 62317940 0.38 [{'connected_gene': 'LAMA5-AS1', 'score': 11.24}, {'connected_gene': 'OSBPL2', 'score': 6.23}, {'connected_gene': 'MTG2', 'score': 5.1}, {'connected_gene': 'LOC105372707', 'score': 0.44}, {'connected_gene': 'MIR4758', 'score': 0.37}, {'connected_gene': 'LAMA5', 'score': 0.23}]
chr20 GH20I062201 62201230 62202314 0.38 [{'connected_gene': 'PIR52239', 'score': 550.77}, {'connected_gene': 'MTG2', 'score': 23.33}, {'connected_gene': 'SS18L1', 'score': 11.31}, {'connected_gene': 'PSMA7', 'score': 11.31}, {'connected_gene': 'ENSG00000226332', 'score': 11.1}, {'connected_gene': 'ADRM1', 'score': 11.1}, {'connected_gene': 'LAMA5', 'score': 11.05}, {'connected_gene': 'OSBPL2', 'score': 9.57}, {'connected_gene': 'HRH3', 'score': 0.37}]
chr20 GH20I062134 62134005 62136021 1.09 [{'connected_gene': 'GC20M062135', 'score': 550.77}, {'connected_gene': 'MTG2', 'score': 11.37}, {'connected_gene': 'SS18L1', 'score': 7.2}, {'connected_gene': 'PIR34643', 'score': 0.77}, {'connected_gene': 'LSM14B', 'score': 0.39}]
chr20 GH20I062132 62132601 62134000 0.66 [{'connected_gene': 'GC20M062135', 'score': 550.77}, {'connected_gene': 'PIR34643', 'score': 550.77}, {'connected_gene': 'MTG2', 'score': 11.06}, {'connected_gene': 'SS18L1', 'score': 7.16}, {'connected_gene': 'LSM14B', 'score': 0.39}]
chr20 GH20I062510 62510950 62514463 0.57 [{'connected_gene': 'ENSG00000260542', 'score': 7.21}, {'connected_gene': 'GATA5', 'score': 6.74}, {'connected_gene': 'MTG2', 'score': 4.83}, {'connected_gene': 'PIR36870', 'score': 0.44}]
chr20 GH20I062649 62649729 62654454 2.1 [{'connected_gene': 'ENSG00000277496', 'score': 550.77}, {'connected_gene': 'ENSG00000276317', 'score': 550.77}, {'connected_gene': 'OGFR', 'score': 21.02}, {'connected_gene': 'YTHDF1', 'score': 11.39}, {'connected_gene': 'OGFR-AS1', 'score': 11.31}, {'connected_gene': 'MTG2', 'score': 10.59}, {'connected_gene': 'MIR1-1', 'score': 10.55}, {'connected_gene': 'MIR1-1HG-AS1', 'score': 10.54}, {'connected_gene': 'MIR1-1HG', 'score': 10.54}, {'connected_gene': 'DIDO1', 'score': 8.72}, {'connected_gene': 'OSBPL2', 'score': 4.55}, {'connected_gene': 'DPH3P1', 'score': 2.03}, {'connected_gene': 'BHLHE23', 'score': 1.65}, {'connected_gene': 'GC20P062822', 'score': 0.77}, {'connected_gene': 'LOC101928465', 'score': 0.77}, {'connected_gene': 'SLCO4A1', 'score': 0.44}]

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