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
ENST00000250495 [[24686057, 24686429], [24687338, 24687421], [24687589, 24687637], [24701455, 24701660]] [[24686332, 24686429], [24687338, 24687421], [24687589, 24687637], [24701455, 24701473]]
ENST00000396828 [[24686062, 24686429], [24687264, 24687421], [24687589, 24687637], [24701455, 24701509]] [[24687334, 24687421], [24687589, 24687637], [24701455, 24701473]]
ENST00000527046 [[24686064, 24686429], [24687338, 24687421], [24687589, 24687637], [24700857, 24701208]] None
ENST00000531430 [[24686071, 24686429], [24687338, 24687421], [24687589, 24687637], [24700857, 24700943], [24701455, 24701531]] None
ENST00000560427 [[24686201, 24686429], [24687338, 24687421], [24687589, 24687932]] None
ENST00000526430 [[24686225, 24686429], [24701455, 24701537]] None
ENST00000524927 [[24686921, 24687421], [24687589, 24687637], [24701455, 24701560]] [[24687334, 24687421], [24687589, 24687637], [24701455, 24701473]]
ENST00000533242 [[24695810, 24697918], [24700857, 24700943], [24701455, 24701561]] None
NM_006156 [[24686056, 24686429], [24687338, 24687421], [24687589, 24687637], [24701455, 24701576]] [[24686332, 24686429], [24687338, 24687421], [24687589, 24687637], [24701455, 24701473]]
Promoter
Chrom Start End Description
chr14 24701539 24701583 CAGE_peak_1_at_NEDD8-MDP1_5end,CAGE_peak_1_at_NEDD8_5end
chr14 24701940 24701959 CAGE_peak_7_at_NEDD8_5end
chr14 24701963 24701992 CAGE_peak_6_at_NEDD8_5end
chr14 24702023 24702035 CAGE_peak_5_at_NEDD8_5end
chr14 24702046 24702062 CAGE_peak_2_at_NEDD8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH14I024237 24237775 24237804 0.2 [{'connected_gene': 'GMPR2', 'score': 0.44}, {'connected_gene': 'NEDD8', 'score': 0.44}, {'connected_gene': 'TINF2', 'score': 0.44}]
chr14 GH14I024235 24235215 24235364 0.38 [{'connected_gene': 'GMPR2', 'score': 0.77}, {'connected_gene': 'NEDD8', 'score': 0.77}, {'connected_gene': 'TINF2', 'score': 0.44}]
chr14 GH14I024230 24230854 24235093 2.07 [{'connected_gene': 'GMPR2', 'score': 550.77}, {'connected_gene': 'NEDD8-MDP1', 'score': 550.77}, {'connected_gene': 'NEDD8', 'score': 550.77}, {'connected_gene': 'TM9SF1', 'score': 18.96}, {'connected_gene': 'RNA5SP383', 'score': 15.93}, {'connected_gene': 'KHNYN', 'score': 15.67}, {'connected_gene': 'LOC102724814', 'score': 12.69}, {'connected_gene': 'TINF2', 'score': 12.61}, {'connected_gene': 'RNF31', 'score': 12.61}, {'connected_gene': 'MDP1', 'score': 10.1}, {'connected_gene': 'CIDEB', 'score': 9.89}, {'connected_gene': 'HOMEZ', 'score': 9.85}, {'connected_gene': 'TGM1', 'score': 9.83}, {'connected_gene': 'DHRS4-AS1', 'score': 5.57}]
chr14 GH14I024238 24238034 24239137 0.58 [{'connected_gene': 'TINF2', 'score': 0.77}, {'connected_gene': 'GMPR2', 'score': 0.44}, {'connected_gene': 'NEDD8', 'score': 0.44}]
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 GH14I024275 24275635 24275784 0.46 [{'connected_gene': 'TINF2', 'score': 11.74}, {'connected_gene': 'NEDD8-MDP1', 'score': 11.71}, {'connected_gene': 'NEDD8', 'score': 11.71}, {'connected_gene': 'DHRS1', 'score': 11.36}, {'connected_gene': 'NOP9', 'score': 11.36}, {'connected_gene': 'GMPR2', 'score': 11.22}, {'connected_gene': 'MDP1', 'score': 10.9}, {'connected_gene': 'CHMP4A', 'score': 10.89}, {'connected_gene': 'ENSG00000254692', 'score': 10.89}, {'connected_gene': 'TM9SF1', 'score': 10.86}, {'connected_gene': 'IPO4', 'score': 10.55}, {'connected_gene': 'TSSK4', 'score': 10.18}, {'connected_gene': 'KHNYN', 'score': 9.23}, {'connected_gene': 'CBLN3', 'score': 9.22}, {'connected_gene': 'RABGGTA', 'score': 0.77}, {'connected_gene': 'LOC102725044', 'score': 0.77}, {'connected_gene': 'PIR40275', 'score': 0.77}]
chr14 GH14I024224 24224135 24225867 0.63 [{'connected_gene': 'NOP9', 'score': 11.34}, {'connected_gene': 'DHRS1', 'score': 11.34}, {'connected_gene': 'TGM1', 'score': 10.82}, {'connected_gene': 'REC8', 'score': 10.51}, {'connected_gene': 'MDP1', 'score': 10.14}, {'connected_gene': 'TM9SF1', 'score': 5.88}, {'connected_gene': 'NEDD8', 'score': 0.44}, {'connected_gene': 'NEDD8-MDP1', 'score': 0.44}]
chr14 GH14I024212 24212220 24217155 2.13 [{'connected_gene': 'MDP1', 'score': 570.61}, {'connected_gene': 'CHMP4A', 'score': 558.82}, {'connected_gene': 'ENSG00000260669', 'score': 550.77}, {'connected_gene': 'ENSG00000254692', 'score': 550.77}, {'connected_gene': 'HOMEZ', 'score': 19.22}, {'connected_gene': 'IPO4', 'score': 18.89}, {'connected_gene': 'RNF31', 'score': 16.88}, {'connected_gene': 'CMA1', 'score': 14.54}, {'connected_gene': 'PABPN1', 'score': 13.53}, {'connected_gene': 'RNA5SP383', 'score': 12.51}, {'connected_gene': 'NGDN', 'score': 12.46}, {'connected_gene': 'TSSK4', 'score': 12.02}, {'connected_gene': 'SDR39U1', 'score': 11.82}, {'connected_gene': 'CTSG', 'score': 11.31}, {'connected_gene': 'KHNYN', 'score': 10.86}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.83}, {'connected_gene': 'NOP9', 'score': 9.96}, {'connected_gene': 'NFATC4', 'score': 9.9}, {'connected_gene': 'LOC102724814', 'score': 9.73}, {'connected_gene': 'LTB4R', 'score': 4.54}, {'connected_gene': 'NEDD8-MDP1', 'score': 0.37}, {'connected_gene': 'NEDD8', 'score': 0.37}]
chr14 GH14I024309 24309415 24318044 2.22 [{'connected_gene': 'LTB4R', 'score': 572.59}, {'connected_gene': 'CIDEB', 'score': 563.63}, {'connected_gene': 'LTB4R2', 'score': 550.44}, {'connected_gene': 'KHNYN', 'score': 40.62}, {'connected_gene': 'NGDN', 'score': 28.41}, {'connected_gene': 'NYNRIN', 'score': 24.91}, {'connected_gene': 'RNA5SP383', 'score': 15.89}, {'connected_gene': 'NFATC4', 'score': 14.57}, {'connected_gene': 'TM9SF1', 'score': 14.46}, {'connected_gene': 'SDR39U1', 'score': 14.42}, {'connected_gene': 'RNF31', 'score': 14.1}, {'connected_gene': 'DHRS1', 'score': 13.53}, {'connected_gene': 'TINF2', 'score': 13.34}, {'connected_gene': 'LOC102724814', 'score': 12.95}, {'connected_gene': 'PABPN1', 'score': 11.52}, {'connected_gene': 'NEDD8-MDP1', 'score': 10.9}, {'connected_gene': 'NEDD8', 'score': 10.9}, {'connected_gene': 'CBLN3', 'score': 10.84}, {'connected_gene': 'ENSG00000259321', 'score': 10.15}, {'connected_gene': 'TGM1', 'score': 6.32}, {'connected_gene': 'GC14M024319', 'score': 0.44}]
chr14 GH14I024194 24194150 24197603 2.09 [{'connected_gene': 'TM9SF1', 'score': 566.24}, {'connected_gene': 'PIR45873', 'score': 550.77}, {'connected_gene': 'RNF31', 'score': 32.57}, {'connected_gene': 'TINF2', 'score': 25.35}, {'connected_gene': 'MDP1', 'score': 22.41}, {'connected_gene': 'SLC22A17', 'score': 21.61}, {'connected_gene': 'PSME2', 'score': 20.64}, {'connected_gene': 'KHNYN', 'score': 17.19}, {'connected_gene': 'RNA5SP383', 'score': 14.59}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'LOC102724814', 'score': 12.4}, {'connected_gene': 'CIDEB', 'score': 12.29}, {'connected_gene': 'SDR39U1', 'score': 11.85}, {'connected_gene': 'REC8', 'score': 11.71}, {'connected_gene': 'NEDD8-MDP1', 'score': 11.47}, {'connected_gene': 'NEDD8', 'score': 11.47}, {'connected_gene': 'PABPN1', 'score': 10.8}, {'connected_gene': 'IPO4', 'score': 10.57}, {'connected_gene': 'ENSG00000259321', 'score': 10.47}, {'connected_gene': 'TGM1', 'score': 10.3}, {'connected_gene': 'NFATC4', 'score': 10.14}, {'connected_gene': 'BCL2L2', 'score': 9.99}, {'connected_gene': 'EFS', 'score': 9.91}, {'connected_gene': 'TSSK4', 'score': 5.62}, {'connected_gene': 'DHRS4', 'score': 4.29}, {'connected_gene': 'ENSG00000276698', 'score': 0.77}, {'connected_gene': 'ENSG00000254692', 'score': 0.37}]
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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