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
ENST00000001146 [[72356366, 72359748], [72360151, 72360436], [72361889, 72362045], [72362272, 72362548], [72371117, 72371342], [72374759, 72375167]] [[72359355, 72359748], [72360151, 72360436], [72361889, 72362045], [72362272, 72362548], [72371117, 72371342], [72374759, 72374963]]
ENST00000412253 [[72356521, 72359748], [72360151, 72360436], [72361889, 72362045], [72362272, 72362548], [72370132, 72370213]] [[72359355, 72359748], [72360151, 72360436], [72361889, 72362045], [72362272, 72362404]]
ENST00000546307 [[72359323, 72359748], [72360151, 72360436], [72361889, 72362045], [72362272, 72362548], [72374759, 72374963]] [[72359355, 72359748], [72360151, 72360436], [72361889, 72362045], [72362272, 72362548], [72374759, 72374963]]
ENST00000474509 [[72361979, 72362045], [72362272, 72362548], [72374759, 72374991]] [[72361979, 72362045], [72362272, 72362548], [72374759, 72374963]]
ENST00000461519 [[72362408, 72362548], [72371117, 72371544]] [[72362408, 72362548], [72371117, 72371495]]
NM_019885 [[72356366, 72359748], [72360151, 72360436], [72361889, 72362045], [72362272, 72362548], [72371117, 72371342], [72374759, 72374991]] [[72359355, 72359748], [72360151, 72360436], [72361889, 72362045], [72362272, 72362548], [72371117, 72371342], [72374759, 72374963]]
NM_001277742 [[72356366, 72359748], [72360151, 72360436], [72361889, 72362045], [72362272, 72362548], [72374759, 72374991]] [[72359355, 72359748], [72360151, 72360436], [72361889, 72362045], [72362272, 72362548], [72374759, 72374963]]
Promoter
Chrom Start End Description
chr2 72371182 72371254 CAGE_peak_1_at_CYP26B1_5end
chr2 72374834 72374851 CAGE_peak_5_at_CYP26B1_5end
chr2 72374878 72374942 CAGE_peak_2_at_CYP26B1_5end
chr2 72374948 72374967 CAGE_peak_4_at_CYP26B1_5end
chr2 72375244 72375254 CAGE_peak_12_at_CYP26B1_5end
chr2 72375269 72375282 CAGE_peak_7_at_CYP26B1_5end
chr2 72375473 72375477 CAGE_peak_3_at_CYP26B1_5end
chr2 72375547 72375559 CAGE_peak_8_at_CYP26B1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I072862 72862201 72863200 1.14 [{'connected_gene': 'CYP26B1', 'score': 7.64}, {'connected_gene': 'SPR', 'score': 0.34}, {'connected_gene': 'EXOC6B', 'score': 0.28}]
chr2 GH02I072756 72756673 72758191 1.16 [{'connected_gene': 'CYP26B1', 'score': 11.31}, {'connected_gene': 'SPR', 'score': 9.48}, {'connected_gene': 'GC02P072760', 'score': 0.77}, {'connected_gene': 'RNU2-39P', 'score': 0.28}, {'connected_gene': 'EXOC6B', 'score': 0.2}]
chr2 GH02I072143 72143951 72146216 1.58 [{'connected_gene': 'CYP26B1', 'score': 12.83}, {'connected_gene': 'ZNF638', 'score': 10.32}, {'connected_gene': 'LOC105374798', 'score': 0.14}]
chr2 GH02I072561 72561411 72563181 1.19 [{'connected_gene': 'CYP26B1', 'score': 10.1}, {'connected_gene': 'EXOC6B', 'score': 4.78}, {'connected_gene': 'GC02P072603', 'score': 0.26}, {'connected_gene': 'GC02P072333', 'score': 0.07}]
chr2 GH02I072413 72413308 72415658 0.38 [{'connected_gene': 'CYP26B1', 'score': 10.54}, {'connected_gene': 'GC02P072333', 'score': 0.18}, {'connected_gene': 'GC02P072603', 'score': 0.09}, {'connected_gene': 'EXOC6B', 'score': 0.05}]
chr2 GH02I072137 72137552 72137701 0.76 [{'connected_gene': 'CYP26B1', 'score': 0.39}, {'connected_gene': 'LOC105374798', 'score': 0.15}]
chr2 GH02I072142 72142755 72143801 0.56 [{'connected_gene': 'CYP26B1', 'score': 0.77}, {'connected_gene': 'LOC105374798', 'score': 0.14}]
chr2 GH02I072147 72147955 72148014 0.73 [{'connected_gene': 'CYP26B1', 'score': 550.77}, {'connected_gene': 'LOC105374798', 'score': 0.14}]
chr2 GH02I072115 72115004 72116928 1.01 [{'connected_gene': 'CYP26B1', 'score': 0.29}, {'connected_gene': 'LOC105374798', 'score': 0.18}]
chr2 GH02I072149 72147815 72147874 0.87 [{'connected_gene': 'CYP26B1', 'score': 550.77}, {'connected_gene': 'LOC105374798', 'score': 0.14}]
chr2 GH02I072107 72107791 72109182 0.2 [{'connected_gene': 'CYP26B1', 'score': 4.58}, {'connected_gene': 'LOC105374798', 'score': 0.19}]
chr2 GH02I072214 72214556 72215201 0.72 [{'connected_gene': 'CYP26B1', 'score': 25.48}, {'connected_gene': 'GC02P072159', 'score': 0.22}, {'connected_gene': 'RPS15AP13', 'score': 0.19}, {'connected_gene': 'EXOC6B', 'score': 0.03}]
chr2 GH02I072211 72211489 72212281 0.31 [{'connected_gene': 'CYP26B1', 'score': 25.49}, {'connected_gene': 'GC02P072159', 'score': 0.23}, {'connected_gene': 'RPS15AP13', 'score': 0.18}, {'connected_gene': 'EXOC6B', 'score': 0.03}]
chr2 GH02I072270 72270812 72272989 0.82 [{'connected_gene': 'CYP26B1', 'score': 23.74}, {'connected_gene': 'RPS15AP13', 'score': 0.37}, {'connected_gene': 'GC02P072159', 'score': 0.14}, {'connected_gene': 'EXOC6B', 'score': 0.03}]
chr2 GH02I072236 72236133 72237212 0.62 [{'connected_gene': 'CYP26B1', 'score': 6.79}, {'connected_gene': 'RPS15AP13', 'score': 0.23}, {'connected_gene': 'GC02P072159', 'score': 0.18}, {'connected_gene': 'EXOC6B', 'score': 0.03}]
chr2 GH02I072241 72241601 72242200 0.2 [{'connected_gene': 'CYP26B1', 'score': 6.79}, {'connected_gene': 'RPS15AP13', 'score': 0.25}, {'connected_gene': 'GC02P072159', 'score': 0.18}, {'connected_gene': 'EXOC6B', 'score': 0.03}]
chr2 GH02I072274 72274612 72274761 0.38 [{'connected_gene': 'CYP26B1', 'score': 23.79}, {'connected_gene': 'RPS15AP13', 'score': 0.39}, {'connected_gene': 'GC02P072159', 'score': 0.14}, {'connected_gene': 'EXOC6B', 'score': 0.03}]
chr2 GH02I072203 72203644 72206158 0.93 [{'connected_gene': 'CYP26B1', 'score': 8.27}, {'connected_gene': 'GC02P072159', 'score': 0.25}, {'connected_gene': 'RPS15AP13', 'score': 0.18}, {'connected_gene': 'EXOC6B', 'score': 0.03}]
chr2 GH02I072189 72189721 72189882 0.28 [{'connected_gene': 'CYP26B1', 'score': 22.82}, {'connected_gene': 'GC02P072159', 'score': 0.31}, {'connected_gene': 'RPS15AP13', 'score': 0.15}, {'connected_gene': 'EXOC6B', 'score': 0.03}]
chr2 GH02I072222 72222690 72223348 0.46 [{'connected_gene': 'CYP26B1', 'score': 24.87}, {'connected_gene': 'GC02P072159', 'score': 0.21}, {'connected_gene': 'RPS15AP13', 'score': 0.2}, {'connected_gene': 'EXOC6B', 'score': 0.03}]
chr2 GH02I072148 72148400 72149201 1.05 [{'connected_gene': 'CYP26B1', 'score': 550.77}, {'connected_gene': 'PIR45972', 'score': 0.77}]
chr2 GH02I072083 72082331 72082480 0.2 [{'connected_gene': 'LOC105374798', 'score': 0.25}, {'connected_gene': 'CYP26B1', 'score': 0.2}]
chr2 GH02I072035 72035191 72036367 0.65 [{'connected_gene': 'LOC105374798', 'score': 550.77}, {'connected_gene': 'CYP26B1', 'score': 0.14}]
chr2 GH02I072082 72082031 72082180 0.2 [{'connected_gene': 'LOC105374798', 'score': 0.25}, {'connected_gene': 'CYP26B1', 'score': 0.2}]
chr2 GH02I072041 72041242 72042257 0.38 [{'connected_gene': 'LOC105374798', 'score': 0.44}, {'connected_gene': 'CYP26B1', 'score': 0.14}]
chr2 GH02I072081 72081691 72081840 0.2 [{'connected_gene': 'LOC105374798', 'score': 0.25}, {'connected_gene': 'CYP26B1', 'score': 0.2}]
chr2 GH02I072150 72150412 72150581 0.74 [{'connected_gene': 'PIR45972', 'score': 550.77}, {'connected_gene': 'CYP26B1', 'score': 0.77}]

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