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
ENST00000369295 [[115803805, 115806667]] [[115803891, 115805325]]
NM_000684 [[115803805, 115806667]] [[115803891, 115805325]]
Promoter
Chrom Start End Description
chr10 115803583 115803609 CAGE_peak_2_at_ADRB1_5end
chr10 115803618 115803641 CAGE_peak_1_at_ADRB1_5end
chr10 115803650 115803661 CAGE_peak_4_at_ADRB1_5end
chr10 115805581 115805585 CAGE_peak_3_at_ADRB1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I113799 113799682 113799851 0.63 [{'connected_gene': 'CASP7', 'score': 15.51}, {'connected_gene': 'ENSG00000234393', 'score': 10.72}, {'connected_gene': 'ADRB1', 'score': 10.34}, {'connected_gene': 'PLEKHS1', 'score': 10.06}, {'connected_gene': 'TDRD1', 'score': 9.98}, {'connected_gene': 'ENSG00000212589', 'score': 0.34}, {'connected_gene': 'MIR4483', 'score': 0.34}]
chr10 GH10I113788 113788429 113789520 1.01 [{'connected_gene': 'CASP7', 'score': 22.83}, {'connected_gene': 'ENSG00000234393', 'score': 11.43}, {'connected_gene': 'RNU6-709P', 'score': 11.39}, {'connected_gene': 'PLEKHS1', 'score': 11.05}, {'connected_gene': 'ADRB1', 'score': 10.05}, {'connected_gene': 'NRAP', 'score': 9.81}, {'connected_gene': 'MIR4483', 'score': 0.39}, {'connected_gene': 'ENSG00000212589', 'score': 0.29}]
chr10 GH10I114150 114150949 114152403 0.52 [{'connected_gene': 'TDRD1', 'score': 21.5}, {'connected_gene': 'VWA2', 'score': 19.56}, {'connected_gene': 'RNU6-709P', 'score': 11.51}, {'connected_gene': 'ADRB1', 'score': 10.09}, {'connected_gene': 'ENSG00000273904', 'score': 0.37}, {'connected_gene': 'CCDC186', 'score': 0.34}, {'connected_gene': 'UBE2V1P5', 'score': 0.29}]
chr10 GH10I114697 114697871 114699202 0.52 [{'connected_gene': 'ABLIM1', 'score': 17.28}, {'connected_gene': 'ADRB1', 'score': 4.36}, {'connected_gene': 'PPIAP19', 'score': 0.44}, {'connected_gene': 'LOC101927692', 'score': 0.2}]
chr10 GH10I114678 114678200 114679523 0.38 [{'connected_gene': 'ABLIM1', 'score': 12.19}, {'connected_gene': 'ADRB1', 'score': 4.64}, {'connected_gene': 'PPIAP19', 'score': 0.39}, {'connected_gene': 'ENSG00000229668', 'score': 0.1}]
chr10 GH10I114681 114681483 114686631 1.82 [{'connected_gene': 'ABLIM1', 'score': 562.2}, {'connected_gene': 'ADRB1', 'score': 4.68}, {'connected_gene': 'PPIAP19', 'score': 0.44}, {'connected_gene': 'ENSG00000229668', 'score': 0.09}]
chr10 GH10I113923 113923862 113924814 0.31 [{'connected_gene': 'ADRB1', 'score': 10.96}, {'connected_gene': 'ENSG00000234393', 'score': 10.29}, {'connected_gene': 'CASP7', 'score': 10.28}, {'connected_gene': 'PLEKHS1', 'score': 9.6}, {'connected_gene': 'GC10P113911', 'score': 0.39}, {'connected_gene': 'LOC105378492', 'score': 0.18}]
chr10 GH10I113956 113956799 113962601 1.38 [{'connected_gene': 'ADRB1', 'score': 11.42}, {'connected_gene': 'CASP7', 'score': 4.59}, {'connected_gene': 'LOC105378492', 'score': 0.25}, {'connected_gene': 'GC10P113911', 'score': 0.25}]
chr10 GH10I113891 113891642 113891791 0.31 [{'connected_gene': 'ADRB1', 'score': 11.11}, {'connected_gene': 'TDRD1', 'score': 9.57}, {'connected_gene': 'GC10P113911', 'score': 0.34}, {'connected_gene': 'NHLRC2', 'score': 0.28}]
chr10 GH10I114042 114042482 114047579 1.54 [{'connected_gene': 'ADRB1', 'score': 557.93}, {'connected_gene': 'GC10P114045', 'score': 550.77}, {'connected_gene': 'GC10M114041', 'score': 550.77}, {'connected_gene': 'CCDC186', 'score': 13.78}]
chr10 GH10I113865 113865879 113866400 0.2 [{'connected_gene': 'ADRB1', 'score': 10.36}, {'connected_gene': 'NHLRC2', 'score': 0.39}, {'connected_gene': 'GC10P113911', 'score': 0.25}]
chr10 GH10I114073 114073851 114074395 0.84 [{'connected_gene': 'ADRB1', 'score': 12.38}, {'connected_gene': 'VWA2', 'score': 7.65}, {'connected_gene': 'PLEKHS1', 'score': 1.93}, {'connected_gene': 'GC10M114063', 'score': 0.44}, {'connected_gene': 'RNU6-709P', 'score': 0.28}]
chr10 GH10I114083 114082062 114082211 0.49 [{'connected_gene': 'ADRB1', 'score': 11.14}, {'connected_gene': 'VWA2', 'score': 9.22}, {'connected_gene': 'GC10M114063', 'score': 0.37}, {'connected_gene': 'RNU6-709P', 'score': 0.31}]
chr10 GH10I113999 113999201 113999800 0.2 [{'connected_gene': 'ADRB1', 'score': 11.52}, {'connected_gene': 'RNU6-709P', 'score': 10.91}, {'connected_gene': 'TDRD1', 'score': 9.4}, {'connected_gene': 'NRAP', 'score': 9.39}, {'connected_gene': 'LOC105378492', 'score': 0.44}, {'connected_gene': 'GC10P113911', 'score': 0.17}]
chr10 GH10I114022 114022382 114022511 0.52 [{'connected_gene': 'ADRB1', 'score': 13.0}, {'connected_gene': 'LOC105378493', 'score': 0.77}, {'connected_gene': 'LOC105378492', 'score': 0.39}]
chr10 GH10I114041 114041063 114042327 0.43 [{'connected_gene': 'ADRB1', 'score': 0.77}, {'connected_gene': 'GC10M114041', 'score': 0.77}, {'connected_gene': 'LOC105378493', 'score': 0.39}]
chr10 GH10I114029 114029626 114030457 0.2 [{'connected_gene': 'ADRB1', 'score': 6.48}, {'connected_gene': 'LOC105378493', 'score': 0.77}]
chr10 GH10I114040 114040055 114040748 0.2 [{'connected_gene': 'ADRB1', 'score': 0.77}, {'connected_gene': 'LOC105378493', 'score': 0.39}]
chr10 GH10I113937 113937942 113938051 0.6 [{'connected_gene': 'ADRB1', 'score': 11.39}, {'connected_gene': 'GC10P113911', 'score': 0.31}, {'connected_gene': 'LOC105378492', 'score': 0.19}]
chr10 GH10I113993 113993201 113994083 0.38 [{'connected_gene': 'ADRB1', 'score': 11.4}, {'connected_gene': 'LOC105378492', 'score': 0.39}, {'connected_gene': 'GC10P113911', 'score': 0.18}]
chr10 GH10I113965 113965401 113966200 0.6 [{'connected_gene': 'ADRB1', 'score': 11.56}, {'connected_gene': 'LOC105378492', 'score': 0.26}, {'connected_gene': 'GC10P113911', 'score': 0.23}]
chr10 GH10I113944 113944574 113946111 0.94 [{'connected_gene': 'ADRB1', 'score': 10.75}, {'connected_gene': 'GC10P113911', 'score': 0.29}, {'connected_gene': 'LOC105378492', 'score': 0.21}]
chr10 GH10I113801 113801562 113801771 0.2 [{'connected_gene': 'ADRB1', 'score': 10.48}, {'connected_gene': 'ENSG00000212589', 'score': 0.37}, {'connected_gene': 'MIR4483', 'score': 0.34}]
chr10 GH10I113981 113981588 113984351 0.6 [{'connected_gene': 'RNU6-709P', 'score': 11.37}, {'connected_gene': 'ADRB1', 'score': 11.19}, {'connected_gene': 'CASP7', 'score': 4.76}, {'connected_gene': 'LOC105378492', 'score': 0.31}, {'connected_gene': 'GC10P113911', 'score': 0.19}]
chr10 GH10I113946 113946850 113948378 0.97 [{'connected_gene': 'RNU6-709P', 'score': 11.59}, {'connected_gene': 'ADRB1', 'score': 11.39}, {'connected_gene': 'TDRD1', 'score': 9.29}, {'connected_gene': 'PLEKHS1', 'score': 9.22}, {'connected_gene': 'GC10P113911', 'score': 0.28}, {'connected_gene': 'LOC105378492', 'score': 0.21}]
chr10 GH10I114082 114082276 114083495 0.62 [{'connected_gene': 'RNU6-709P', 'score': 12.92}, {'connected_gene': 'ADRB1', 'score': 12.32}, {'connected_gene': 'GC10M114063', 'score': 0.37}]
chr10 GH10I114024 114024499 114028343 1.11 [{'connected_gene': 'LOC105378493', 'score': 550.77}, {'connected_gene': 'ADRB1', 'score': 6.43}, {'connected_gene': 'LOC105378492', 'score': 0.37}]
chr10 GH10I114066 114066465 114067573 0.31 [{'connected_gene': 'GC10M114063', 'score': 550.77}, {'connected_gene': 'ADRB1', 'score': 17.38}, {'connected_gene': 'RNU6-709P', 'score': 0.26}]
chr10 GH10I114067 114067816 114069115 0.38 [{'connected_gene': 'GC10M114063', 'score': 550.77}, {'connected_gene': 'ADRB1', 'score': 12.68}, {'connected_gene': 'RNU6-709P', 'score': 0.26}]
chr10 GH10I114064 114064250 114065091 0.76 [{'connected_gene': 'GC10M114063', 'score': 550.77}, {'connected_gene': 'ADRB1', 'score': 12.68}, {'connected_gene': 'GC10P114045', 'score': 0.37}]