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
ENST00000518857 [[104033290, 104033410], [104061097, 104061183], [104063277, 104063372], [104064958, 104065050], [104066111, 104066210], [104068095, 104068164], [104075182, 104075275], [104075362, 104075456], [104076941, 104077039], [104078548, 104078675], [104080879, 104081407]] [[104061122, 104061183], [104063277, 104063372], [104064958, 104065050], [104066111, 104066210], [104068095, 104068164], [104075182, 104075275], [104075362, 104075456], [104076941, 104077039], [104078548, 104078675], [104080879, 104080975]]
ENST00000395862 [[104033290, 104033410], [104053025, 104053196], [104054567, 104054635], [104061097, 104061183], [104063277, 104063372], [104064958, 104065050], [104066111, 104066210], [104068095, 104068164], [104075182, 104075275], [104075362, 104075456], [104076941, 104077039], [104078548, 104078675], [104080879, 104085279]] [[104053064, 104053196], [104054567, 104054635], [104061097, 104061183], [104063277, 104063372], [104064958, 104065050], [104066111, 104066210], [104068095, 104068164], [104075182, 104075275], [104075362, 104075456], [104076941, 104077039], [104078548, 104078675], [104080879, 104080975]]
ENST00000521514 [[104033315, 104033453], [104054567, 104054635], [104061097, 104061183], [104063277, 104063372], [104064958, 104065050], [104066111, 104066210], [104068095, 104068164], [104075182, 104075275], [104075362, 104075456], [104076941, 104077039], [104078548, 104078675], [104080879, 104081304]] [[104061122, 104061183], [104063277, 104063372], [104064958, 104065050], [104066111, 104066210], [104068095, 104068164], [104075182, 104075275], [104075362, 104075456], [104076941, 104077039], [104078548, 104078675], [104080879, 104080975]]
ENST00000518738 [[104033329, 104033453], [104053025, 104053196], [104054567, 104054635], [104061097, 104061183], [104063277, 104063372], [104064958, 104065050], [104066111, 104066210], [104068095, 104068164], [104075182, 104075275], [104075362, 104075456], [104076941, 104077039], [104078548, 104078675], [104080879, 104081793]] [[104053064, 104053196], [104054567, 104054635], [104061097, 104061183], [104063277, 104063372], [104064958, 104065050], [104066111, 104066210], [104068095, 104068164], [104075182, 104075275], [104075362, 104075456], [104076941, 104077039], [104078548, 104078675], [104080879, 104080975]]
ENST00000521671 [[104063344, 104063372], [104064958, 104065050], [104066111, 104066210], [104068095, 104068164], [104075182, 104075275], [104075362, 104075498]] None
ENST00000518959 [[104076787, 104077039], [104078548, 104078675], [104080879, 104081053]] None
NM_001695 [[104033247, 104033453], [104053025, 104053196], [104054567, 104054635], [104061097, 104061183], [104063277, 104063372], [104064958, 104065050], [104066111, 104066210], [104068095, 104068164], [104075182, 104075275], [104075362, 104075456], [104076941, 104077039], [104078548, 104078675], [104080879, 104085285]] [[104053064, 104053196], [104054567, 104054635], [104061097, 104061183], [104063277, 104063372], [104064958, 104065050], [104066111, 104066210], [104068095, 104068164], [104075182, 104075275], [104075362, 104075456], [104076941, 104077039], [104078548, 104078675], [104080879, 104080975]]
Promoter
Chrom Start End Description
chr8 104033277 104033292 CAGE_peak_2_at_ATP6V1C1_5end
chr8 104033296 104033360 CAGE_peak_1_at_ATP6V1C1_5end
chr8 104082040 104082052 CAGE_peak_4_at_ATP6V1C1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I103346 103346871 103350549 1.23 [{'connected_gene': 'FZD6', 'score': 24.14}, {'connected_gene': 'CTHRC1', 'score': 19.26}, {'connected_gene': 'BAALC-AS1', 'score': 15.04}, {'connected_gene': 'RNU6-1011P', 'score': 11.8}, {'connected_gene': 'LINC01181', 'score': 9.67}, {'connected_gene': 'DCAF13', 'score': 5.79}, {'connected_gene': 'ENSG00000266289', 'score': 5.14}, {'connected_gene': 'ATP6V1C1', 'score': 2.31}, {'connected_gene': 'AZIN1', 'score': 2.16}, {'connected_gene': 'SLC25A32', 'score': 1.42}, {'connected_gene': 'GC08P103357', 'score': 0.44}, {'connected_gene': 'GC08P103328', 'score': 0.34}]
chr8 GH08I103176 103176734 103176877 0.42 [{'connected_gene': 'BAALC', 'score': 16.83}, {'connected_gene': 'BAALC-AS2', 'score': 12.48}, {'connected_gene': 'LINC01181', 'score': 10.64}, {'connected_gene': 'FZD6', 'score': 10.47}, {'connected_gene': 'BAALC-AS1', 'score': 10.47}, {'connected_gene': 'AZIN1', 'score': 2.98}, {'connected_gene': 'ATP6V1C1', 'score': 2.14}, {'connected_gene': 'MIR3151', 'score': 0.34}, {'connected_gene': 'PIR39342', 'score': 0.25}]
chr8 GH08I103104 103104080 103106859 1.36 [{'connected_gene': 'KLF10', 'score': 11.82}, {'connected_gene': 'ATP6V1C1', 'score': 11.53}, {'connected_gene': 'BAALC', 'score': 4.35}, {'connected_gene': 'AZIN1', 'score': 3.5}, {'connected_gene': 'SLC25A32', 'score': 1.98}, {'connected_gene': 'MTCO2P4', 'score': 0.39}, {'connected_gene': 'LINC01181', 'score': 0.37}]
chr8 GH08I103137 103136418 103137962 1.08 [{'connected_gene': 'KLF10', 'score': 4.5}, {'connected_gene': 'ATP6V1C1', 'score': 2.95}, {'connected_gene': 'AZIN1', 'score': 2.79}, {'connected_gene': 'SLC25A32', 'score': 1.32}, {'connected_gene': 'BAALC-AS2', 'score': 0.77}, {'connected_gene': 'BAALC', 'score': 0.77}, {'connected_gene': 'LINC01181', 'score': 0.37}]
chr8 GH08I103031 103031400 103031700 0.47 [{'connected_gene': 'KLF10', 'score': 4.83}, {'connected_gene': 'AZIN1', 'score': 3.89}, {'connected_gene': 'ATP6V1C1', 'score': 2.57}, {'connected_gene': 'ENSG00000254236', 'score': 0.39}, {'connected_gene': 'PIR47023', 'score': 0.28}]
chr8 GH08I102786 102786689 102792111 1.7 [{'connected_gene': 'KLF10', 'score': 10.58}, {'connected_gene': 'GASAL1', 'score': 5.86}, {'connected_gene': 'AZIN1', 'score': 3.33}, {'connected_gene': 'ATP6V1C1', 'score': 2.04}, {'connected_gene': 'GC08P102794', 'score': 0.44}, {'connected_gene': 'ADI1P2', 'score': 0.15}]
chr8 GH08I103080 103080862 103081052 0.3 [{'connected_gene': 'KLF10', 'score': 12.34}, {'connected_gene': 'LINC01181', 'score': 10.81}, {'connected_gene': 'ATP6V1C1', 'score': 7.79}, {'connected_gene': 'AZIN1', 'score': 4.06}, {'connected_gene': 'SLC25A32', 'score': 1.91}, {'connected_gene': 'DCAF13', 'score': 1.4}, {'connected_gene': 'MTND1P5', 'score': 0.77}, {'connected_gene': 'PIR47023', 'score': 0.39}]
chr8 GH08I103076 103076464 103076634 0.51 [{'connected_gene': 'KLF10', 'score': 11.69}, {'connected_gene': 'LINC01181', 'score': 10.81}, {'connected_gene': 'ATP6V1C1', 'score': 5.71}, {'connected_gene': 'AZIN1', 'score': 2.76}, {'connected_gene': 'SLC25A32', 'score': 1.76}, {'connected_gene': 'PIR47023', 'score': 0.44}, {'connected_gene': 'MTND1P5', 'score': 0.44}]
chr8 GH08I102567 102567645 102569322 1.44 [{'connected_gene': 'KLF10', 'score': 14.8}, {'connected_gene': 'LOC107986898', 'score': 11.67}, {'connected_gene': 'RNU6-1224P', 'score': 11.67}, {'connected_gene': 'RNU6ATAC8P', 'score': 10.94}, {'connected_gene': 'LOC105375683', 'score': 10.93}, {'connected_gene': 'UBR5', 'score': 10.93}, {'connected_gene': 'ATP6V1C1', 'score': 3.28}, {'connected_gene': 'AZIN1', 'score': 2.33}, {'connected_gene': 'LOC105375684', 'score': 0.37}, {'connected_gene': 'GC08M102622', 'score': 0.23}]
chr8 GH08I102650 102650493 102659838 2.65 [{'connected_gene': 'KLF10', 'score': 567.25}, {'connected_gene': 'LOC101927245', 'score': 550.77}, {'connected_gene': 'UBR5', 'score': 21.38}, {'connected_gene': 'FZD6', 'score': 12.23}, {'connected_gene': 'LOC107986898', 'score': 10.55}, {'connected_gene': 'RNU6-1224P', 'score': 10.55}, {'connected_gene': 'ATP6V1C1', 'score': 4.58}, {'connected_gene': 'AZIN1', 'score': 1.77}]
chr8 GH08I103020 103020042 103022270 2.06 [{'connected_gene': 'ATP6V1C1', 'score': 556.15}, {'connected_gene': 'ENSG00000254236', 'score': 554.95}, {'connected_gene': 'UBR5', 'score': 33.05}, {'connected_gene': 'FZD6', 'score': 23.85}, {'connected_gene': 'KLF10', 'score': 17.3}, {'connected_gene': 'SLC25A32', 'score': 14.23}, {'connected_gene': 'AZIN1', 'score': 7.02}]
chr8 GH08I103073 103073225 103074562 0.89 [{'connected_gene': 'ATP6V1C1', 'score': 29.71}, {'connected_gene': 'LINC01181', 'score': 10.79}, {'connected_gene': 'PIR47023', 'score': 0.77}, {'connected_gene': 'MTND1P5', 'score': 0.39}]
chr8 GH08I102965 102965801 102966000 0.43 [{'connected_gene': 'ATP6V1C1', 'score': 18.88}, {'connected_gene': 'NPM1P52', 'score': 11.61}, {'connected_gene': 'ENSG00000254236', 'score': 11.6}, {'connected_gene': 'AZIN1', 'score': 11.58}, {'connected_gene': 'AZIN1-AS1', 'score': 11.54}, {'connected_gene': 'LINC01181', 'score': 9.25}, {'connected_gene': 'ENSG00000254281', 'score': 0.39}, {'connected_gene': 'ENSG00000201216', 'score': 0.37}]
chr8 GH08I102967 102967135 102967873 0.31 [{'connected_gene': 'ATP6V1C1', 'score': 23.73}, {'connected_gene': 'NPM1P52', 'score': 11.63}, {'connected_gene': 'ENSG00000254236', 'score': 11.61}, {'connected_gene': 'AZIN1', 'score': 11.58}, {'connected_gene': 'AZIN1-AS1', 'score': 11.54}, {'connected_gene': 'LINC01181', 'score': 9.26}, {'connected_gene': 'ENSG00000254281', 'score': 0.39}, {'connected_gene': 'ENSG00000201216', 'score': 0.37}]
chr8 GH08I102961 102961292 102962175 0.94 [{'connected_gene': 'ATP6V1C1', 'score': 18.04}, {'connected_gene': 'NPM1P52', 'score': 11.32}, {'connected_gene': 'ENSG00000254236', 'score': 11.31}, {'connected_gene': 'ENSG00000201216', 'score': 0.39}, {'connected_gene': 'ENSG00000254281', 'score': 0.37}, {'connected_gene': 'AZIN1-AS1', 'score': 0.15}]
chr8 GH08I102994 102994649 102996818 0.46 [{'connected_gene': 'ATP6V1C1', 'score': 38.53}, {'connected_gene': 'ENSG00000254236', 'score': 17.73}, {'connected_gene': 'NPM1P52', 'score': 12.78}, {'connected_gene': 'GC08P103006', 'score': 0.39}, {'connected_gene': 'ENSG00000254281', 'score': 0.37}]
chr8 GH08I102985 102985786 102986141 0.24 [{'connected_gene': 'AZIN1', 'score': 5.9}, {'connected_gene': 'KLF10', 'score': 4.26}, {'connected_gene': 'ATP6V1C1', 'score': 2.72}, {'connected_gene': 'ENSG00000254281', 'score': 0.44}, {'connected_gene': 'GC08P103006', 'score': 0.34}]
chr8 GH08I102939 102939838 102940348 0.43 [{'connected_gene': 'AZIN1', 'score': 6.56}, {'connected_gene': 'ATP6V1C1', 'score': 5.07}, {'connected_gene': 'ENSG00000201216', 'score': 0.39}, {'connected_gene': 'RPL5P24', 'score': 0.37}, {'connected_gene': 'AZIN1-AS1', 'score': 0.18}]
chr8 GH08I103025 103025601 103025800 0.31 [{'connected_gene': 'AZIN1', 'score': 11.79}, {'connected_gene': 'AZIN1-AS1', 'score': 11.77}, {'connected_gene': 'LINC01181', 'score': 9.48}, {'connected_gene': 'ENSG00000254236', 'score': 0.77}, {'connected_gene': 'ATP6V1C1', 'score': 0.77}, {'connected_gene': 'PIR47023', 'score': 0.26}]
chr8 GH08I102929 102929202 102931944 0.92 [{'connected_gene': 'AZIN1', 'score': 20.02}, {'connected_gene': 'AZIN1-AS1', 'score': 12.73}, {'connected_gene': 'NPM1P52', 'score': 11.39}, {'connected_gene': 'ENSG00000254236', 'score': 11.38}, {'connected_gene': 'ATP6V1C1', 'score': 11.38}, {'connected_gene': 'RPL5P24', 'score': 0.44}, {'connected_gene': 'ENSG00000201216', 'score': 0.37}]
chr8 GH08I103108 103108553 103109660 0.98 [{'connected_gene': 'BAALC-AS2', 'score': 11.36}, {'connected_gene': 'ATP6V1C1', 'score': 7.25}, {'connected_gene': 'KLF10', 'score': 3.34}, {'connected_gene': 'BAALC', 'score': 1.85}, {'connected_gene': 'LINC01181', 'score': 0.39}, {'connected_gene': 'MTCO2P4', 'score': 0.37}]
chr8 GH08I102884 102884273 102884422 0.75 [{'connected_gene': 'AZIN1-AS1', 'score': 12.1}, {'connected_gene': 'ENSG00000254236', 'score': 11.34}, {'connected_gene': 'ATP6V1C1', 'score': 11.34}, {'connected_gene': 'NPM1P52', 'score': 11.34}, {'connected_gene': 'GC08M102884', 'score': 0.77}, {'connected_gene': 'AZIN1', 'score': 0.44}, {'connected_gene': 'PIR36968', 'score': 0.37}]
chr8 GH08I102927 102927153 102928120 0.43 [{'connected_gene': 'AZIN1-AS1', 'score': 23.87}, {'connected_gene': 'AZIN1', 'score': 17.51}, {'connected_gene': 'NPM1P52', 'score': 11.39}, {'connected_gene': 'ENSG00000254236', 'score': 11.38}, {'connected_gene': 'ATP6V1C1', 'score': 11.38}, {'connected_gene': 'RPL5P24', 'score': 0.77}, {'connected_gene': 'ENSG00000201216', 'score': 0.34}]
chr8 GH08I102908 102908832 102911403 1.29 [{'connected_gene': 'AZIN1-AS1', 'score': 20.92}, {'connected_gene': 'NPM1P52', 'score': 11.32}, {'connected_gene': 'ENSG00000254236', 'score': 11.32}, {'connected_gene': 'ATP6V1C1', 'score': 11.32}, {'connected_gene': 'AZIN1', 'score': 7.39}, {'connected_gene': 'RPL5P24', 'score': 0.39}, {'connected_gene': 'GC08P102894', 'score': 0.37}]
chr8 GH08I102902 102902814 102904435 1.12 [{'connected_gene': 'AZIN1-AS1', 'score': 21.51}, {'connected_gene': 'NPM1P52', 'score': 11.39}, {'connected_gene': 'ENSG00000254236', 'score': 11.39}, {'connected_gene': 'ATP6V1C1', 'score': 11.39}, {'connected_gene': 'GC08P102894', 'score': 0.44}, {'connected_gene': 'RPL5P24', 'score': 0.34}]
chr8 GH08I102909 102908373 102908632 0.2 [{'connected_gene': 'AZIN1-AS1', 'score': 12.19}, {'connected_gene': 'NPM1P52', 'score': 11.32}, {'connected_gene': 'ENSG00000254236', 'score': 11.32}, {'connected_gene': 'ATP6V1C1', 'score': 11.32}, {'connected_gene': 'GC08P102894', 'score': 0.39}, {'connected_gene': 'RPL5P24', 'score': 0.37}]
chr8 GH08I102924 102924125 102926682 1.11 [{'connected_gene': 'RPL5P24', 'score': 550.77}, {'connected_gene': 'AZIN1-AS1', 'score': 18.68}, {'connected_gene': 'AZIN1', 'score': 17.37}, {'connected_gene': 'ENSG00000253263', 'score': 12.82}, {'connected_gene': 'NPM1P52', 'score': 11.51}, {'connected_gene': 'ENSG00000254236', 'score': 11.5}, {'connected_gene': 'ATP6V1C1', 'score': 11.5}, {'connected_gene': 'ENSG00000201216', 'score': 0.31}]
chr8 GH08I102977 102977911 102981400 1.23 [{'connected_gene': 'ENSG00000254281', 'score': 550.77}, {'connected_gene': 'KLF10', 'score': 10.52}, {'connected_gene': 'AZIN1', 'score': 6.79}, {'connected_gene': 'ATP6V1C1', 'score': 4.09}, {'connected_gene': 'DCAF13', 'score': 1.93}, {'connected_gene': 'SLC25A32', 'score': 1.57}, {'connected_gene': 'GC08P103006', 'score': 0.31}]
chr8 GH08I103069 103069640 103070803 0.46 [{'connected_gene': 'PIR47023', 'score': 550.77}, {'connected_gene': 'ATP6V1C1', 'score': 17.04}, {'connected_gene': 'MTND1P5', 'score': 0.37}]
chr8 GH08I102998 102998648 103001320 0.43 [{'connected_gene': 'ENSG00000254236', 'score': 18.48}, {'connected_gene': 'AZIN1', 'score': 16.83}, {'connected_gene': 'ATP6V1C1', 'score': 12.78}, {'connected_gene': 'AZIN1-AS1', 'score': 11.2}, {'connected_gene': 'GC08P103006', 'score': 0.44}, {'connected_gene': 'ENSG00000254281', 'score': 0.34}]
chr8 GH08I102886 102886243 102887889 1.16 [{'connected_gene': 'GC08M102884', 'score': 550.77}, {'connected_gene': 'AZIN1-AS1', 'score': 23.37}, {'connected_gene': 'NPM1P52', 'score': 10.95}, {'connected_gene': 'ENSG00000254236', 'score': 10.94}, {'connected_gene': 'ATP6V1C1', 'score': 10.94}, {'connected_gene': 'ENSG00000253263', 'score': 0.77}, {'connected_gene': 'AZIN1', 'score': 0.44}]

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