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
ENST00000361005 [[33750514, 33750725], [33796640, 33796800], [33797826, 33798080], [33798483, 33798620], [33799025, 33799229]] [[33750514, 33750725], [33796640, 33796800], [33797826, 33798080], [33798483, 33798620], [33799025, 33799178]]
ENST00000468152 [[33750676, 33750725], [33762054, 33762161], [33796640, 33796800], [33797826, 33797922]] None
ENST00000457896 [[33750687, 33750725], [33794743, 33794871], [33796640, 33796800], [33797826, 33798080], [33798483, 33798526]] [[33794795, 33794871], [33796640, 33796800], [33797826, 33798080], [33798483, 33798526]]
ENST00000342836 [[33750687, 33750725], [33794743, 33794871], [33796640, 33796800], [33797826, 33798080], [33798483, 33798620], [33799025, 33799230]] [[33794789, 33794871], [33796640, 33796800], [33797826, 33798080], [33798483, 33798620], [33799025, 33799178]]
ENST00000429677 [[33750818, 33750850], [33796640, 33796800], [33797826, 33798080], [33798483, 33798620], [33799025, 33799228]] [[33750831, 33750850], [33796640, 33796800], [33797826, 33798080], [33798483, 33798620], [33799025, 33799178]]
ENST00000379405 [[33795532, 33795611], [33796640, 33796800], [33797826, 33798080], [33798483, 33798620], [33799025, 33799229]] [[33795571, 33795611], [33796640, 33796800], [33797826, 33798080], [33798483, 33798620], [33799025, 33799178]]
ENST00000477653 [[33795567, 33795611], [33797826, 33797975]] None
ENST00000495682 [[33798515, 33798749], [33798853, 33799227]] None
NM_007343 [[33750463, 33750725], [33796640, 33796800], [33797826, 33798080], [33798483, 33798620], [33799025, 33799229]] [[33750514, 33750725], [33796640, 33796800], [33797826, 33798080], [33798483, 33798620], [33799025, 33799178]]
NM_001197097 [[33750463, 33750725], [33794743, 33794871], [33796640, 33796800], [33797826, 33798080], [33798483, 33798620], [33799025, 33799229]] [[33794789, 33794871], [33796640, 33796800], [33797826, 33798080], [33798483, 33798620], [33799025, 33799178]]
NM_001197098 [[33750818, 33750850], [33796640, 33796800], [33797826, 33798080], [33798483, 33798620], [33799025, 33799229]] [[33750831, 33750850], [33796640, 33796800], [33797826, 33798080], [33798483, 33798620], [33799025, 33799178]]
NM_002771 [[33795558, 33795611], [33796640, 33796800], [33797826, 33798080], [33798483, 33798620], [33799025, 33799229]] [[33795571, 33795611], [33796640, 33796800], [33797826, 33798080], [33798483, 33798620], [33799025, 33799178]]
Promoter
Chrom Start End Description
chr9 33750637 33750648 CAGE_peak_2_at_PRSS3_5end
chr9 33750667 33750685 CAGE_peak_1_at_PRSS3_5end
chr9 33795549 33795562 CAGE_peak_3_at_PRSS3_5end
chr9 33798017 33798022 CAGE_peak_8_at_PRSS3_5end
chr9 33798033 33798042 CAGE_peak_7_at_PRSS3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I033774 33774353 33774736 0.58 [{'connected_gene': 'TRBV29OR9-2', 'score': 0.39}, {'connected_gene': 'PRSS3', 'score': 0.34}]
chr9 GH09I033787 33787485 33788132 0.31 [{'connected_gene': 'TRBV29OR9-2', 'score': 550.77}, {'connected_gene': 'GC09P034201', 'score': 550.77}, {'connected_gene': 'SNORD121B', 'score': 10.6}, {'connected_gene': 'UBAP2', 'score': 10.56}, {'connected_gene': 'NUDT2', 'score': 6.65}, {'connected_gene': 'UBE2R2', 'score': 0.31}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.29}, {'connected_gene': 'PRSS3', 'score': 0.28}]
chr9 GH09I033786 33786320 33786974 0.46 [{'connected_gene': 'TRBV29OR9-2', 'score': 550.77}, {'connected_gene': 'GC09P034201', 'score': 550.77}, {'connected_gene': 'SNORD121B', 'score': 10.6}, {'connected_gene': 'UBAP2', 'score': 10.56}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.29}, {'connected_gene': 'UBE2R2', 'score': 0.29}, {'connected_gene': 'PRSS3', 'score': 0.28}]
chr9 GH09I033749 33749843 33753998 1.64 [{'connected_gene': 'PRSS3', 'score': 557.2}, {'connected_gene': 'ENSG00000260947', 'score': 19.01}, {'connected_gene': 'TRBV26OR9-2', 'score': 11.97}, {'connected_gene': 'RNU4ATAC11P', 'score': 11.43}, {'connected_gene': 'UBE2R2', 'score': 10.98}, {'connected_gene': 'UBAP2', 'score': 10.55}, {'connected_gene': 'LINC01251', 'score': 8.68}, {'connected_gene': 'ENSG00000227301', 'score': 5.04}, {'connected_gene': 'NOL6', 'score': 4.59}, {'connected_gene': 'TRBV29OR9-2', 'score': 0.29}]
chr9 GH09I033748 33748623 33749438 0.46 [{'connected_gene': 'PRSS3', 'score': 557.67}, {'connected_gene': 'TRBV26OR9-2', 'score': 12.13}, {'connected_gene': 'LINC01251', 'score': 8.64}, {'connected_gene': 'ENSG00000260947', 'score': 8.15}, {'connected_gene': 'LOC102724216', 'score': 0.37}]
chr9 GH09I033742 33742623 33742772 0.74 [{'connected_gene': 'PRSS3', 'score': 6.86}, {'connected_gene': 'LINC01251', 'score': 0.77}, {'connected_gene': 'LOC102724216', 'score': 0.39}]
chr9 GH09I033741 33741538 33742219 0.2 [{'connected_gene': 'PRSS3', 'score': 7.25}, {'connected_gene': 'LINC01251', 'score': 0.77}, {'connected_gene': 'LOC102724216', 'score': 0.39}]
chr9 GH09I033795 33795512 33795571 1.09 [{'connected_gene': 'PRSS3', 'score': 550.25}, {'connected_gene': 'GC09P034201', 'score': 0.44}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.34}, {'connected_gene': 'UBE2R2', 'score': 0.34}]
chr9 GH09I034046 34046773 34050698 2.08 [{'connected_gene': 'UBAP2', 'score': 562.24}, {'connected_gene': 'RN7SKP114', 'score': 550.77}, {'connected_gene': 'SMU1', 'score': 43.04}, {'connected_gene': 'ENSG00000228352', 'score': 38.55}, {'connected_gene': 'NFX1', 'score': 19.19}, {'connected_gene': 'NOL6', 'score': 11.82}, {'connected_gene': 'B4GALT1', 'score': 10.78}, {'connected_gene': 'UBE2R2', 'score': 8.43}, {'connected_gene': 'PRSS3', 'score': 7.6}, {'connected_gene': 'ENSG00000260947', 'score': 7.0}, {'connected_gene': 'KIF24', 'score': 6.13}, {'connected_gene': 'C9orf24', 'score': 4.66}, {'connected_gene': 'DCAF12', 'score': 4.63}, {'connected_gene': 'OSTCP8', 'score': 4.26}, {'connected_gene': 'PIR49648', 'score': 0.39}]
chr9 GH09I033778 33778638 33780643 1.11 [{'connected_gene': 'UBE2R2', 'score': 18.01}, {'connected_gene': 'SMU1', 'score': 14.76}, {'connected_gene': 'TCEA1P4', 'score': 13.94}, {'connected_gene': 'NFX1', 'score': 12.65}, {'connected_gene': 'ENSG00000260947', 'score': 10.02}, {'connected_gene': 'TRBV29OR9-2', 'score': 0.44}, {'connected_gene': 'PRSS3', 'score': 0.31}]
chr9 GH09I033813 33813238 33820185 2.55 [{'connected_gene': 'UBE2R2', 'score': 565.8}, {'connected_gene': 'UBAP1', 'score': 12.35}, {'connected_gene': 'PRSS3', 'score': 7.43}, {'connected_gene': 'ENSG00000260947', 'score': 4.44}, {'connected_gene': 'ENSG00000230074', 'score': 4.22}, {'connected_gene': 'UBAP2', 'score': 4.17}, {'connected_gene': 'DCAF12', 'score': 3.96}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.77}, {'connected_gene': 'GC09P034201', 'score': 0.29}]
chr9 GH09I033776 33776910 33777739 0.54 [{'connected_gene': 'UBE2R2', 'score': 11.95}, {'connected_gene': 'ENSG00000260947', 'score': 10.94}, {'connected_gene': 'NUDT2', 'score': 9.29}, {'connected_gene': 'TRBV29OR9-2', 'score': 0.44}, {'connected_gene': 'PRSS3', 'score': 0.31}]
chr9 GH09I033792 33792452 33792757 0.2 [{'connected_gene': 'UBE2R2', 'score': 11.56}, {'connected_gene': 'SNORD121A', 'score': 9.5}, {'connected_gene': 'GC09P034201', 'score': 0.44}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.31}, {'connected_gene': 'PRSS3', 'score': 0.26}]
chr9 GH09I033791 33791115 33792130 0.49 [{'connected_gene': 'UBE2R2', 'score': 17.56}, {'connected_gene': 'SNORD121A', 'score': 9.33}, {'connected_gene': 'ENSG00000260947', 'score': 8.1}, {'connected_gene': 'GC09P034201', 'score': 0.44}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.31}, {'connected_gene': 'PRSS3', 'score': 0.26}]
chr9 GH09I033793 33793793 33794187 0.2 [{'connected_gene': 'UBE2R2', 'score': 11.56}, {'connected_gene': 'SNORD121A', 'score': 9.51}, {'connected_gene': 'ENSG00000260947', 'score': 7.45}, {'connected_gene': 'GC09P034201', 'score': 0.44}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.34}, {'connected_gene': 'PRSS3', 'score': 0.26}]
chr9 GH09I034027 34027264 34029462 0.49 [{'connected_gene': 'NFX1', 'score': 17.58}, {'connected_gene': 'ENSG00000228352', 'score': 13.26}, {'connected_gene': 'NOL6', 'score': 12.21}, {'connected_gene': 'SMU1', 'score': 12.04}, {'connected_gene': 'NUDT2', 'score': 8.07}, {'connected_gene': 'PRSS3', 'score': 7.6}, {'connected_gene': 'ENSG00000260947', 'score': 7.32}, {'connected_gene': 'UBE2R2', 'score': 7.03}, {'connected_gene': 'DCAF12', 'score': 5.7}, {'connected_gene': 'RNU7-36P', 'score': 0.39}, {'connected_gene': 'PIR49648', 'score': 0.39}, {'connected_gene': 'UBAP2', 'score': 0.34}]
chr9 GH09I033510 33510081 33512024 1.42 [{'connected_gene': 'SUGT1P1', 'score': 550.77}, {'connected_gene': 'VN1R47P', 'score': 550.77}, {'connected_gene': 'PIR50034', 'score': 550.77}, {'connected_gene': 'ANKRD18B', 'score': 12.51}, {'connected_gene': 'PRSS3', 'score': 5.63}]
chr9 GH09I033613 33613914 33614122 0.24 [{'connected_gene': 'PRSS3P4', 'score': 550.77}, {'connected_gene': 'PRSS3', 'score': 73.71}, {'connected_gene': 'LINC01251', 'score': 6.77}, {'connected_gene': 'ENSG00000260947', 'score': 6.01}, {'connected_gene': 'TRBV20OR9-2', 'score': 0.77}]
chr9 GH09I033759 33759187 33760399 0.83 [{'connected_gene': 'LINC01251', 'score': 6.76}, {'connected_gene': 'PRSS3', 'score': 0.44}, {'connected_gene': 'TRBV29OR9-2', 'score': 0.31}]
chr9 GH09I033739 33739023 33740360 0.76 [{'connected_gene': 'LINC01251', 'score': 550.77}, {'connected_gene': 'IMPDH1P1', 'score': 10.01}, {'connected_gene': 'PRSS3', 'score': 9.91}, {'connected_gene': 'ENSG00000260947', 'score': 9.89}, {'connected_gene': 'ENSG00000227301', 'score': 5.14}, {'connected_gene': 'KIF24', 'score': 4.02}, {'connected_gene': 'LOC102724216', 'score': 0.44}]
chr9 GH09I033798 33798308 33798959 0.43 [{'connected_gene': 'SNORD121B', 'score': 10.04}, {'connected_gene': 'UBAP2', 'score': 9.99}, {'connected_gene': 'SNORD121A', 'score': 9.32}, {'connected_gene': 'IMPDH1P1', 'score': 9.17}, {'connected_gene': 'DCAF12', 'score': 9.17}, {'connected_gene': 'ENSG00000260947', 'score': 7.91}, {'connected_gene': 'GC09P034201', 'score': 0.39}, {'connected_gene': 'UBE2R2', 'score': 0.37}, {'connected_gene': 'UBE2R2-AS1', 'score': 0.34}, {'connected_gene': 'PRSS3', 'score': 0.25}]
chr9 GH09I033721 33721803 33722555 1.15 [{'connected_gene': 'ENSG00000260947', 'score': 19.01}, {'connected_gene': 'AQP7', 'score': 10.83}, {'connected_gene': 'LOC105376020', 'score': 10.83}, {'connected_gene': 'PRSS3', 'score': 7.07}, {'connected_gene': 'ENSG00000227301', 'score': 0.77}, {'connected_gene': 'LOC102724216', 'score': 0.44}]
chr9 GH09I033763 33763403 33766244 0.69 [{'connected_gene': 'ENSG00000260947', 'score': 9.79}, {'connected_gene': 'NUDT2', 'score': 9.02}, {'connected_gene': 'LINC01251', 'score': 7.6}, {'connected_gene': 'TRBV26OR9-2', 'score': 6.23}, {'connected_gene': 'ENSG00000227301', 'score': 5.02}, {'connected_gene': 'PRSS3', 'score': 0.39}, {'connected_gene': 'TRBV29OR9-2', 'score': 0.34}]
chr9 GH09I033772 33772735 33773978 0.2 [{'connected_gene': 'ENSG00000260947', 'score': 8.17}, {'connected_gene': 'CYP4F26P', 'score': 4.7}, {'connected_gene': 'TRBV29OR9-2', 'score': 0.39}, {'connected_gene': 'PRSS3', 'score': 0.34}]
chr9 GH09I033769 33769338 33771647 0.8 [{'connected_gene': 'ENSG00000260947', 'score': 8.18}, {'connected_gene': 'LINC01251', 'score': 5.42}, {'connected_gene': 'TRBV29OR9-2', 'score': 0.37}, {'connected_gene': 'PRSS3', 'score': 0.34}]
chr9 GH09I033766 33766914 33768213 0.84 [{'connected_gene': 'ENSG00000260947', 'score': 18.97}, {'connected_gene': 'LINC01251', 'score': 10.8}, {'connected_gene': 'PRSS3', 'score': 5.47}, {'connected_gene': 'TRBV29OR9-2', 'score': 0.37}]