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
ENST00000468592 [[172290726, 172290780], [172291592, 172291696], [172300032, 172300123], [172305190, 172305327], [172306388, 172306467], [172309633, 172309723], [172314480, 172314585], [172325397, 172325540], [172330375, 172330485], [172333369, 172333460], [172334496, 172334580], [172336547, 172336703], [172337483, 172338668]] None
ENST00000539783 [[172290760, 172291213], [172291592, 172291696], [172300032, 172300123], [172305190, 172305327], [172306388, 172306467], [172309633, 172309723], [172314480, 172314585], [172314881, 172314987], [172325397, 172325540], [172334496, 172334580], [172336547, 172336703], [172337483, 172341558]] [[172291087, 172291213], [172291592, 172291696], [172300032, 172300123], [172305190, 172305327], [172306388, 172306467], [172309633, 172309723], [172314480, 172314585], [172314881, 172314987], [172325397, 172325540], [172334496, 172334580], [172336547, 172336703], [172337483, 172337624]]
ENST00000375255 [[172290760, 172291213], [172291592, 172291696], [172300032, 172300123], [172305190, 172305327], [172306388, 172306467], [172309633, 172309723], [172314480, 172314585], [172314881, 172314987], [172325397, 172325540], [172330375, 172330485], [172333369, 172333460], [172334496, 172334580], [172336547, 172336703], [172337483, 172341562]] [[172291087, 172291213], [172291592, 172291696], [172300032, 172300123], [172305190, 172305327], [172306388, 172306467], [172309633, 172309723], [172314480, 172314585], [172314881, 172314987], [172325397, 172325540], [172330375, 172330485], [172333369, 172333460], [172334496, 172334580], [172336547, 172336703], [172337483, 172337624]]
ENST00000495925 [[172291166, 172291213], [172300032, 172300123], [172305190, 172305327], [172306388, 172306435]] None
ENST00000436317 [[172291173, 172291213], [172291592, 172291696], [172300032, 172300123], [172303895, 172304013], [172305190, 172305327], [172306388, 172306467], [172309633, 172309723], [172314480, 172314579]] [[172291173, 172291213], [172291592, 172291696], [172300032, 172300123], [172303895, 172304013], [172305190, 172305222]]
ENST00000490217 [[172291211, 172291507], [172291592, 172291696], [172300032, 172300123], [172305190, 172305327], [172306388, 172306468]] None
ENST00000480855 [[172299646, 172300123], [172305190, 172305327], [172306388, 172306585]] None
ENST00000339506 [[172309633, 172309723], [172325397, 172325540], [172330375, 172330485], [172333369, 172333460], [172334496, 172334580], [172336547, 172336703], [172337483, 172337677]] [[172309633, 172309723], [172325397, 172325540], [172330375, 172330485], [172333369, 172333460], [172334496, 172334580], [172336547, 172336703], [172337483, 172337624]]
ENST00000493106 [[172325486, 172325540], [172330375, 172330894]] None
ENST00000431110 [[172329379, 172329465], [172330375, 172330485], [172333369, 172333460], [172334496, 172334580], [172336547, 172336703], [172337483, 172337789]] [[172329379, 172329465], [172330375, 172330485], [172333369, 172333460], [172334496, 172334580], [172336547, 172336703], [172337483, 172337624]]
ENST00000498486 [[172336165, 172336703], [172337483, 172337642]] None
NR_028482 [[172290760, 172291213], [172291592, 172291696], [172300032, 172300123], [172305190, 172305327], [172306388, 172306467], [172309633, 172309723], [172314480, 172314585], [172325397, 172325540], [172330375, 172330485], [172333369, 172333460], [172334496, 172334580], [172336547, 172336703], [172337483, 172341562]] None
NM_001164821 [[172290760, 172291213], [172291592, 172291696], [172300032, 172300123], [172305190, 172305327], [172306388, 172306467], [172309633, 172309723], [172314480, 172314585], [172314881, 172314987], [172325397, 172325540], [172334496, 172334580], [172336547, 172336703], [172337483, 172341562]] [[172291087, 172291213], [172291592, 172291696], [172300032, 172300123], [172305190, 172305327], [172306388, 172306467], [172309633, 172309723], [172314480, 172314585], [172314881, 172314987], [172325397, 172325540], [172334496, 172334580], [172336547, 172336703], [172337483, 172337624]]
NM_025000 [[172290760, 172291213], [172291592, 172291696], [172300032, 172300123], [172305190, 172305327], [172306388, 172306467], [172309633, 172309723], [172314480, 172314585], [172314881, 172314987], [172325397, 172325540], [172330375, 172330485], [172333369, 172333460], [172334496, 172334580], [172336547, 172336703], [172337483, 172341562]] [[172291087, 172291213], [172291592, 172291696], [172300032, 172300123], [172305190, 172305327], [172306388, 172306467], [172309633, 172309723], [172314480, 172314585], [172314881, 172314987], [172325397, 172325540], [172330375, 172330485], [172333369, 172333460], [172334496, 172334580], [172336547, 172336703], [172337483, 172337624]]
Promoter
Chrom Start End Description
chr2 172290707 172290764 CAGE_peak_1_at_DCAF17_5end
chr2 172290765 172290787 CAGE_peak_4_at_DCAF17_5end
chr2 172290817 172290845 CAGE_peak_2_at_DCAF17_5end
chr2 172309636 172309643 CAGE_peak_11_at_DCAF17_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I171158 171158132 171162490 2.25 [{'connected_gene': 'TLK1', 'score': 550.19}, {'connected_gene': 'GORASP2', 'score': 15.24}, {'connected_gene': 'DCAF17', 'score': 13.59}, {'connected_gene': 'HAT1', 'score': 11.7}, {'connected_gene': 'METAP1D', 'score': 10.24}, {'connected_gene': 'DAP3P2', 'score': 9.93}, {'connected_gene': 'GC02P171119', 'score': 0.26}, {'connected_gene': 'GC02P171227', 'score': 0.2}]
chr2 GH02I171921 171921334 171924718 2.07 [{'connected_gene': 'HAT1', 'score': 563.36}, {'connected_gene': 'LOC105373740', 'score': 550.77}, {'connected_gene': 'DAP3P2', 'score': 13.34}, {'connected_gene': 'DCAF17', 'score': 10.9}, {'connected_gene': 'SLC25A12', 'score': 10.58}, {'connected_gene': 'GC02M171942', 'score': 0.37}]
chr2 GH02I171430 171430548 171435764 2.35 [{'connected_gene': 'DCAF17', 'score': 577.18}, {'connected_gene': 'METTL8', 'score': 569.3}, {'connected_gene': 'DAP3P2', 'score': 33.87}, {'connected_gene': 'GORASP2', 'score': 20.84}, {'connected_gene': 'RPS15P4', 'score': 10.42}, {'connected_gene': 'CYBRD1', 'score': 7.54}, {'connected_gene': 'TLK1', 'score': 1.93}, {'connected_gene': 'GC02M171404', 'score': 0.31}]
chr2 GH02I172246 172246478 172255329 1.69 [{'connected_gene': 'DCAF17', 'score': 43.51}, {'connected_gene': 'ITGA6', 'score': 20.62}, {'connected_gene': 'ENSG00000226963', 'score': 11.26}, {'connected_gene': 'METAP1D', 'score': 10.28}, {'connected_gene': 'DAP3P2', 'score': 9.91}, {'connected_gene': 'ENSG00000232555', 'score': 0.21}, {'connected_gene': 'GC02M172117', 'score': 0.21}]
chr2 GH02I172223 172223059 172233200 1.21 [{'connected_gene': 'DCAF17', 'score': 23.82}, {'connected_gene': 'ITGA6', 'score': 5.13}, {'connected_gene': 'GC02M172117', 'score': 0.28}, {'connected_gene': 'ENSG00000232555', 'score': 0.17}]
chr2 GH02I171510 171510471 171510620 0.46 [{'connected_gene': 'DCAF17', 'score': 18.15}, {'connected_gene': 'GORASP2', 'score': 10.37}, {'connected_gene': 'RPS15P4', 'score': 0.44}, {'connected_gene': 'GC02P171494', 'score': 0.37}]
chr2 GH02I171244 171244099 171246180 1.45 [{'connected_gene': 'DCAF17', 'score': 17.03}, {'connected_gene': 'GORASP2', 'score': 12.38}, {'connected_gene': 'DAP3P2', 'score': 11.99}, {'connected_gene': 'METAP1D', 'score': 10.11}, {'connected_gene': 'METTL8', 'score': 5.22}, {'connected_gene': 'TLK1', 'score': 0.39}, {'connected_gene': 'GC02M171274', 'score': 0.31}, {'connected_gene': 'LOC105373737', 'score': 0.22}]
chr2 GH02I171408 171408833 171410894 0.79 [{'connected_gene': 'CYBRD1', 'score': 5.33}, {'connected_gene': 'GC02M171404', 'score': 0.77}, {'connected_gene': 'METTL8', 'score': 0.34}, {'connected_gene': 'DCAF17', 'score': 0.34}]
chr2 GH02I171412 171412201 171412400 0.2 [{'connected_gene': 'CYBRD1', 'score': 5.34}, {'connected_gene': 'GC02M171404', 'score': 0.44}, {'connected_gene': 'METTL8', 'score': 0.34}, {'connected_gene': 'DCAF17', 'score': 0.34}]
chr2 GH02I171415 171415656 171416840 1.14 [{'connected_gene': 'CYBRD1', 'score': 5.28}, {'connected_gene': 'GC02M171404', 'score': 0.39}, {'connected_gene': 'METTL8', 'score': 0.37}, {'connected_gene': 'DCAF17', 'score': 0.37}]
chr2 GH02I171482 171482167 171483660 0.49 [{'connected_gene': 'CYBRD1', 'score': 12.17}, {'connected_gene': 'METTL8', 'score': 12.07}, {'connected_gene': 'GC02M171472', 'score': 0.44}, {'connected_gene': 'DAP3P2', 'score': 0.44}, {'connected_gene': 'DCAF17', 'score': 0.25}]
chr2 GH02I170713 170713093 170717789 2.34 [{'connected_gene': 'SP5', 'score': 550.77}, {'connected_gene': 'LINC01124', 'score': 550.77}, {'connected_gene': 'LOC101926913', 'score': 14.21}, {'connected_gene': 'DCAF17', 'score': 13.94}, {'connected_gene': 'GAD1', 'score': 8.74}, {'connected_gene': 'EIF2S2P4', 'score': 0.28}]
chr2 GH02I172118 172118572 172119760 0.79 [{'connected_gene': 'DAP3P2', 'score': 12.67}, {'connected_gene': 'DCAF17', 'score': 10.16}, {'connected_gene': 'LOC105373741', 'score': 0.37}, {'connected_gene': 'DLX2-AS1', 'score': 0.37}, {'connected_gene': 'GC02M172117', 'score': 0.19}]
chr2 GH02I171490 171490414 171491209 0.31 [{'connected_gene': 'DAP3P2', 'score': 550.77}, {'connected_gene': 'CYBRD1', 'score': 21.61}, {'connected_gene': 'METTL8', 'score': 7.51}, {'connected_gene': 'GC02M171472', 'score': 0.39}, {'connected_gene': 'DCAF17', 'score': 0.22}]
chr2 GH02I170927 170927616 170931412 2.58 [{'connected_gene': 'GORASP2', 'score': 557.26}, {'connected_gene': 'GC02M170927', 'score': 550.77}, {'connected_gene': 'DAP3P2', 'score': 37.58}, {'connected_gene': 'RPS15P4', 'score': 20.44}, {'connected_gene': 'DCAF17', 'score': 10.37}, {'connected_gene': 'TLK1', 'score': 3.17}, {'connected_gene': 'GC02P170969', 'score': 0.28}]
chr2 GH02I170815 170815811 170815980 0.87 [{'connected_gene': 'GAD1', 'score': 23.19}, {'connected_gene': 'DAP3P2', 'score': 14.27}, {'connected_gene': 'RPS15P4', 'score': 11.91}, {'connected_gene': 'DCAF17', 'score': 10.36}, {'connected_gene': 'ENSG00000235934', 'score': 0.77}, {'connected_gene': 'GC02P170803', 'score': 0.39}]
chr2 GH02I171999 171999271 172001280 1.59 [{'connected_gene': 'METAP1D', 'score': 560.85}, {'connected_gene': 'SLC25A12', 'score': 559.49}, {'connected_gene': 'DCAF17', 'score': 25.5}, {'connected_gene': 'DAP3P2', 'score': 24.41}, {'connected_gene': 'RPS15P4', 'score': 11.92}, {'connected_gene': 'GC02P172074', 'score': 0.19}]
chr2 GH02I171686 171686851 171689362 2.08 [{'connected_gene': 'DYNC1I2', 'score': 550.77}, {'connected_gene': 'DAP3P2', 'score': 25.45}, {'connected_gene': 'RPS15P4', 'score': 10.33}, {'connected_gene': 'DCAF17', 'score': 10.03}, {'connected_gene': 'GORASP2', 'score': 9.9}, {'connected_gene': 'TLK1', 'score': 9.84}, {'connected_gene': 'HAT1', 'score': 5.41}, {'connected_gene': 'GC02P171811', 'score': 0.13}]
chr2 GH02I172092 172092917 172103444 3.39 [{'connected_gene': 'DLX2', 'score': 562.0}, {'connected_gene': 'DCAF17', 'score': 42.54}, {'connected_gene': 'DAP3P2', 'score': 38.33}, {'connected_gene': 'RPS15P4', 'score': 10.32}, {'connected_gene': 'METAP1D', 'score': 10.24}, {'connected_gene': 'HAT1', 'score': 9.98}, {'connected_gene': 'ITGA6', 'score': 9.94}, {'connected_gene': 'ENSG00000232788', 'score': 9.93}, {'connected_gene': 'DLX1', 'score': 7.9}, {'connected_gene': 'DYNC1I2', 'score': 1.64}, {'connected_gene': 'DLX2-AS1', 'score': 0.77}, {'connected_gene': 'GC02P172093', 'score': 0.77}]
chr2 GH02I170769 170769789 170772400 1.71 [{'connected_gene': 'LOC101926913', 'score': 550.77}, {'connected_gene': 'ENSG00000239467', 'score': 550.77}, {'connected_gene': 'ERICH2', 'score': 550.77}, {'connected_gene': 'DAP3P2', 'score': 14.27}, {'connected_gene': 'RPS15P4', 'score': 11.91}, {'connected_gene': 'DCAF17', 'score': 10.36}]
chr2 GH02I170820 170820251 170820400 0.52 [{'connected_gene': 'GC02M170820', 'score': 550.77}, {'connected_gene': 'DCAF17', 'score': 13.95}, {'connected_gene': 'GAD1', 'score': 13.72}, {'connected_gene': 'ENSG00000235934', 'score': 0.77}, {'connected_gene': 'GC02P170803', 'score': 0.37}]
chr2 GH02I171411 171411891 171412040 0.38 [{'connected_gene': 'GC02M171404', 'score': 0.44}, {'connected_gene': 'METTL8', 'score': 0.34}, {'connected_gene': 'DCAF17', 'score': 0.34}]
chr2 GH02I170816 170816113 170816220 0.8 [{'connected_gene': 'ENSG00000235934', 'score': 550.77}, {'connected_gene': 'DAP3P2', 'score': 14.27}, {'connected_gene': 'RPS15P4', 'score': 11.91}, {'connected_gene': 'DCAF17', 'score': 10.36}, {'connected_gene': 'GAD1', 'score': 0.77}, {'connected_gene': 'GC02P170803', 'score': 0.39}]