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
ENST00000206451 [[24605366, 24605510], [24606193, 24606226], [24606351, 24606414], [24606529, 24606640], [24606728, 24606774], [24606908, 24607006], [24607257, 24607326], [24607404, 24607472], [24607553, 24607608], [24607682, 24607769], [24607944, 24608176]] [[24605471, 24605510], [24606193, 24606226], [24606351, 24606414], [24606529, 24606640], [24606728, 24606774], [24606908, 24607006], [24607257, 24607326], [24607404, 24607472], [24607553, 24607608], [24607682, 24607769], [24607944, 24608025]]
ENST00000559123 [[24605371, 24605550], [24606193, 24606226], [24606351, 24606414], [24606529, 24606640], [24606728, 24606774], [24606908, 24607006], [24607257, 24607326], [24607404, 24607472], [24607553, 24607608], [24607682, 24607769], [24607944, 24608168]] [[24607422, 24607472], [24607553, 24607608], [24607682, 24607769], [24607944, 24608025]]
ENST00000561059 [[24605405, 24605510], [24606193, 24606640], [24606728, 24606774], [24606908, 24607006], [24607257, 24607508]] None
ENST00000561142 [[24605405, 24605510], [24606193, 24606226], [24606351, 24606414], [24606529, 24606640], [24606728, 24606774], [24606908, 24607006], [24607257, 24607472], [24607553, 24607608], [24607682, 24607769], [24607944, 24607996]] None
ENST00000382708 [[24605408, 24605510], [24606193, 24606226], [24606351, 24606414], [24606529, 24606640], [24606728, 24606774], [24606908, 24607006], [24607257, 24607326], [24607404, 24607472], [24607553, 24607608], [24607682, 24608173]] [[24605471, 24605510], [24606193, 24606226], [24606351, 24606414], [24606529, 24606640], [24606728, 24606774], [24606908, 24607006], [24607257, 24607326], [24607404, 24607472], [24607553, 24607608], [24607682, 24607853]]
ENST00000561435 [[24605435, 24605510], [24606193, 24606226], [24606351, 24606414], [24606529, 24606640], [24606728, 24606774], [24606908, 24607006], [24607257, 24607326], [24607404, 24607472], [24607553, 24607608], [24607682, 24607777], [24607944, 24608176]] [[24605471, 24605510], [24606193, 24606226], [24606351, 24606414], [24606529, 24606640], [24606728, 24606774], [24606908, 24607006], [24607257, 24607326], [24607404, 24607472], [24607553, 24607608], [24607682, 24607777], [24607944, 24607969]]
ENST00000470718 [[24605436, 24605510], [24606106, 24606226], [24606351, 24606414], [24606529, 24606640], [24606728, 24606774], [24606908, 24606970]] None
ENST00000559741 [[24606606, 24606640], [24606728, 24606774], [24606908, 24607006], [24607257, 24607472], [24607553, 24607612], [24607682, 24607769], [24607944, 24608168]] None
ENST00000560420 [[24606728, 24606774], [24606908, 24607006], [24607257, 24607326], [24607404, 24608113]] None
ENST00000558112 [[24606728, 24606774], [24606908, 24607006], [24607257, 24607326], [24607404, 24607472], [24607553, 24607612], [24607682, 24607769], [24607944, 24608168]] [[24606728, 24606774], [24606908, 24607006], [24607257, 24607326], [24607404, 24607472], [24607553, 24607612], [24607682, 24607687]]
NM_001281529 [[24605366, 24605510], [24606193, 24606226], [24606351, 24606414], [24606529, 24606640], [24606728, 24606774], [24606908, 24607006], [24607257, 24607326], [24607443, 24607472], [24607553, 24607608], [24607682, 24607769], [24607944, 24608176]] [[24605471, 24605510], [24606193, 24606226], [24606351, 24606414], [24606529, 24606640], [24606728, 24606774], [24606908, 24607006], [24607257, 24607326], [24607443, 24607472], [24607553, 24607608], [24607682, 24607769], [24607944, 24608025]]
NM_006263 [[24605366, 24605510], [24606193, 24606226], [24606351, 24606414], [24606529, 24606640], [24606728, 24606774], [24606908, 24607006], [24607257, 24607326], [24607404, 24607472], [24607553, 24607608], [24607682, 24607769], [24607944, 24608176]] [[24605471, 24605510], [24606193, 24606226], [24606351, 24606414], [24606529, 24606640], [24606728, 24606774], [24606908, 24607006], [24607257, 24607326], [24607404, 24607472], [24607553, 24607608], [24607682, 24607769], [24607944, 24608025]]
NM_001281528 [[24605366, 24605510], [24606193, 24606226], [24606351, 24606414], [24606529, 24606640], [24606728, 24606774], [24606908, 24607006], [24607257, 24607326], [24607404, 24607472], [24607553, 24607608], [24607682, 24607777], [24607944, 24608176]] [[24605471, 24605510], [24606193, 24606226], [24606351, 24606414], [24606529, 24606640], [24606728, 24606774], [24606908, 24607006], [24607257, 24607326], [24607404, 24607472], [24607553, 24607608], [24607682, 24607777], [24607944, 24607969]]
NM_176783 [[24605366, 24605510], [24606193, 24606226], [24606351, 24606414], [24606529, 24606640], [24606728, 24606774], [24606908, 24607006], [24607257, 24607326], [24607404, 24607472], [24607553, 24607608], [24607682, 24608176]] [[24605471, 24605510], [24606193, 24606226], [24606351, 24606414], [24606529, 24606640], [24606728, 24606774], [24606908, 24607006], [24607257, 24607326], [24607404, 24607472], [24607553, 24607608], [24607682, 24607853]]
Promoter
Chrom Start End Description
chr14 24605361 24605381 CAGE_peak_2_at_PSME1_5end
chr14 24605389 24605446 CAGE_peak_1_at_PSME1_5end
chr14 24606368 24606372 CAGE_peak_3_at_PSME1_5end
chr14 24606523 24606543 CAGE_peak_4_at_PSME1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I024106 24106201 24106400 0.69 [{'connected_gene': 'CPNE6', 'score': 12.12}, {'connected_gene': 'CARMIL3', 'score': 11.98}, {'connected_gene': 'FITM1', 'score': 11.34}, {'connected_gene': 'PSME1', 'score': 11.31}, {'connected_gene': 'IRF9', 'score': 11.21}, {'connected_gene': 'EMC9', 'score': 10.96}, {'connected_gene': 'PSME2', 'score': 10.81}, {'connected_gene': 'RNF31', 'score': 10.81}, {'connected_gene': 'TM9SF1', 'score': 10.34}, {'connected_gene': 'ENSG00000254692', 'score': 9.96}, {'connected_gene': 'CHMP4A', 'score': 9.96}, {'connected_gene': 'NRL', 'score': 0.44}, {'connected_gene': 'DCAF11', 'score': 0.44}, {'connected_gene': 'PCK2', 'score': 0.39}]
chr14 GH14I023566 23566485 23570161 2.27 [{'connected_gene': 'AP1G2', 'score': 570.42}, {'connected_gene': 'KHNYN', 'score': 33.65}, {'connected_gene': 'RNA5SP383', 'score': 33.57}, {'connected_gene': 'ACIN1', 'score': 29.78}, {'connected_gene': 'NGDN', 'score': 24.11}, {'connected_gene': 'TM9SF1', 'score': 22.54}, {'connected_gene': 'MMP14', 'score': 21.95}, {'connected_gene': 'TINF2', 'score': 21.08}, {'connected_gene': 'PRMT5', 'score': 20.86}, {'connected_gene': 'C14orf93', 'score': 20.61}, {'connected_gene': 'ENSG00000259321', 'score': 19.13}, {'connected_gene': 'RNF31', 'score': 14.02}, {'connected_gene': 'LOC102724814', 'score': 13.36}, {'connected_gene': 'CIDEB', 'score': 12.88}, {'connected_gene': 'NYNRIN', 'score': 12.32}, {'connected_gene': 'RBM23', 'score': 12.17}, {'connected_gene': 'NFATC4', 'score': 11.87}, {'connected_gene': 'HAUS4', 'score': 11.82}, {'connected_gene': 'SDR39U1', 'score': 10.61}, {'connected_gene': 'PSME1', 'score': 9.84}, {'connected_gene': 'JPH4', 'score': 0.39}]
chr14 GH14I024422 24422587 24432903 2.73 [{'connected_gene': 'CBLN3', 'score': 613.66}, {'connected_gene': 'KHNYN', 'score': 587.15}, {'connected_gene': 'SDR39U1', 'score': 48.57}, {'connected_gene': 'NYNRIN', 'score': 32.89}, {'connected_gene': 'MDP1', 'score': 19.14}, {'connected_gene': 'NGDN', 'score': 16.54}, {'connected_gene': 'NFATC4', 'score': 14.4}, {'connected_gene': 'ENSG00000259321', 'score': 11.45}, {'connected_gene': 'TINF2', 'score': 11.17}, {'connected_gene': 'ADCY4', 'score': 10.49}, {'connected_gene': 'ZFHX2-AS1', 'score': 9.84}, {'connected_gene': 'NEDD8-MDP1', 'score': 9.36}, {'connected_gene': 'NEDD8', 'score': 9.36}, {'connected_gene': 'IRF9', 'score': 3.91}, {'connected_gene': 'PSME1', 'score': 1.2}]
chr14 GH14I024270 24270149 24275502 2.41 [{'connected_gene': 'RABGGTA', 'score': 550.77}, {'connected_gene': 'LOC102725044', 'score': 550.77}, {'connected_gene': 'TSSK4', 'score': 35.45}, {'connected_gene': 'IPO4', 'score': 31.35}, {'connected_gene': 'RNF31', 'score': 23.06}, {'connected_gene': 'HOMEZ', 'score': 21.69}, {'connected_gene': 'KHNYN', 'score': 21.54}, {'connected_gene': 'NOP9', 'score': 21.08}, {'connected_gene': 'NGDN', 'score': 20.87}, {'connected_gene': 'DHRS1', 'score': 18.86}, {'connected_gene': 'TINF2', 'score': 17.44}, {'connected_gene': 'LTB4R', 'score': 15.37}, {'connected_gene': 'RNA5SP383', 'score': 12.42}, {'connected_gene': 'NEDD8-MDP1', 'score': 11.71}, {'connected_gene': 'NEDD8', 'score': 11.71}, {'connected_gene': 'GMPR2', 'score': 11.22}, {'connected_gene': 'CHMP4A', 'score': 10.9}, {'connected_gene': 'ENSG00000254692', 'score': 10.9}, {'connected_gene': 'MDP1', 'score': 10.9}, {'connected_gene': 'TM9SF1', 'score': 10.86}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.83}, {'connected_gene': 'THTPA', 'score': 10.22}, {'connected_gene': 'SDR39U1', 'score': 9.86}, {'connected_gene': 'LOC102724814', 'score': 9.72}, {'connected_gene': 'CBLN3', 'score': 9.22}, {'connected_gene': 'RIPK3', 'score': 7.48}, {'connected_gene': 'IRF9', 'score': 4.27}, {'connected_gene': 'PSME1', 'score': 1.59}, {'connected_gene': 'DCAF11', 'score': 1.37}, {'connected_gene': 'PIR40275', 'score': 0.44}]
chr14 GH14I024135 24135127 24138014 2.28 [{'connected_gene': 'PSME1', 'score': 550.77}, {'connected_gene': 'EMC9', 'score': 31.8}, {'connected_gene': 'RNF31', 'score': 6.03}, {'connected_gene': 'ENSG00000259321', 'score': 0.77}]
chr14 GH14I024108 24108116 24109600 1.19 [{'connected_gene': 'EMC9', 'score': 17.68}, {'connected_gene': 'CPNE6', 'score': 12.12}, {'connected_gene': 'CARMIL3', 'score': 11.97}, {'connected_gene': 'FITM1', 'score': 11.34}, {'connected_gene': 'PSME1', 'score': 11.31}, {'connected_gene': 'IRF9', 'score': 11.21}, {'connected_gene': 'PSME2', 'score': 10.83}, {'connected_gene': 'RNF31', 'score': 10.83}, {'connected_gene': 'TM9SF1', 'score': 10.34}, {'connected_gene': 'ENSG00000254692', 'score': 9.96}, {'connected_gene': 'CHMP4A', 'score': 9.96}, {'connected_gene': 'NRL', 'score': 0.44}, {'connected_gene': 'DCAF11', 'score': 0.44}, {'connected_gene': 'PCK2', 'score': 0.39}]
chr14 GH14I024113 24113283 24116397 2.13 [{'connected_gene': 'NRL', 'score': 550.77}, {'connected_gene': 'DCAF11', 'score': 550.77}, {'connected_gene': 'RNF31', 'score': 32.74}, {'connected_gene': 'NFATC4', 'score': 32.08}, {'connected_gene': 'IPO4', 'score': 31.32}, {'connected_gene': 'HOMEZ', 'score': 30.09}, {'connected_gene': 'RNA5SP383', 'score': 27.44}, {'connected_gene': 'TSSK4', 'score': 24.61}, {'connected_gene': 'TM9SF1', 'score': 24.46}, {'connected_gene': 'KHNYN', 'score': 24.4}, {'connected_gene': 'NGDN', 'score': 24.35}, {'connected_gene': 'TINF2', 'score': 23.38}, {'connected_gene': 'LOC102724814', 'score': 21.0}, {'connected_gene': 'THTPA', 'score': 19.2}, {'connected_gene': 'EMC9', 'score': 18.08}, {'connected_gene': 'NOP9', 'score': 12.09}, {'connected_gene': 'PSME1', 'score': 11.86}, {'connected_gene': 'PCK2', 'score': 11.13}, {'connected_gene': 'PSME2', 'score': 11.04}, {'connected_gene': 'IRF9', 'score': 10.43}, {'connected_gene': 'EFS', 'score': 9.9}, {'connected_gene': 'CIDEB', 'score': 9.79}]
chr14 GH14I024240 24240327 24244153 2.5 [{'connected_gene': 'TINF2', 'score': 567.06}, {'connected_gene': 'KHNYN', 'score': 25.59}, {'connected_gene': 'RNA5SP383', 'score': 24.32}, {'connected_gene': 'LOC102724814', 'score': 18.69}, {'connected_gene': 'NGDN', 'score': 15.08}, {'connected_gene': 'NYNRIN', 'score': 12.14}, {'connected_gene': 'RNF31', 'score': 12.06}, {'connected_gene': 'SDR39U1', 'score': 11.17}, {'connected_gene': 'ENSG00000259321', 'score': 10.22}, {'connected_gene': 'TGM1', 'score': 10.0}, {'connected_gene': 'IRF9', 'score': 6.98}, {'connected_gene': 'PSME1', 'score': 2.87}, {'connected_gene': 'RIPK3', 'score': 2.19}, {'connected_gene': 'DHRS4L1', 'score': 1.81}, {'connected_gene': 'DCAF11', 'score': 1.79}, {'connected_gene': 'CIDEB', 'score': 1.37}, {'connected_gene': 'LTB4R', 'score': 1.33}, {'connected_gene': 'NEDD8', 'score': 0.44}]
chr14 GH14I024130 24130185 24133367 1.54 [{'connected_gene': 'FITM1', 'score': 550.77}, {'connected_gene': 'EMC9', 'score': 28.9}, {'connected_gene': 'PSME1', 'score': 0.77}, {'connected_gene': 'ENSG00000259371', 'score': 0.39}]
chr14 GH14I024277 24277001 24282199 1.21 [{'connected_gene': 'PIR40275', 'score': 550.77}, {'connected_gene': 'DHRS1', 'score': 39.77}, {'connected_gene': 'TINF2', 'score': 16.94}, {'connected_gene': 'NOP9', 'score': 12.92}, {'connected_gene': 'LTB4R2', 'score': 12.85}, {'connected_gene': 'LTB4R', 'score': 12.83}, {'connected_gene': 'CIDEB', 'score': 12.83}, {'connected_gene': 'GMPR2', 'score': 12.16}, {'connected_gene': 'NEDD8-MDP1', 'score': 12.16}, {'connected_gene': 'NEDD8', 'score': 12.16}, {'connected_gene': 'MDP1', 'score': 11.14}, {'connected_gene': 'CHMP4A', 'score': 11.13}, {'connected_gene': 'ENSG00000254692', 'score': 11.13}, {'connected_gene': 'TM9SF1', 'score': 11.1}, {'connected_gene': 'ADCY4', 'score': 10.8}, {'connected_gene': 'IPO4', 'score': 10.53}, {'connected_gene': 'REC8', 'score': 10.39}, {'connected_gene': 'TSSK4', 'score': 10.22}, {'connected_gene': 'IRF9', 'score': 3.96}, {'connected_gene': 'KHNYN', 'score': 2.93}, {'connected_gene': 'PSME1', 'score': 1.59}, {'connected_gene': 'DCAF11', 'score': 1.26}, {'connected_gene': 'LOC102725044', 'score': 0.44}]

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