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
ENST00000514309 [[84457066, 84457170], [84457656, 84457916], [84465688, 84465766]] None
ENST00000506766 [[84457127, 84457359], [84457656, 84457916], [84465688, 84465766]] None
ENST00000395226 [[84457260, 84457359], [84457656, 84457916], [84465688, 84465755], [84502714, 84502985], [84508407, 84508482], [84509362, 84509452], [84511351, 84511445], [84515997, 84516113], [84518010, 84518066], [84518582, 84518668], [84519203, 84519332], [84519796, 84519876], [84525820, 84527028]] [[84457775, 84457916], [84465688, 84465755], [84502714, 84502985], [84508407, 84508482], [84509362, 84509452], [84511351, 84511445], [84515997, 84516113], [84518010, 84518066], [84518582, 84518668], [84519203, 84519332], [84519796, 84519876], [84525820, 84525920]]
ENST00000509412 [[84457459, 84457508], [84457656, 84457916], [84465688, 84465756]] None
ENST00000264409 [[84457563, 84457916], [84465688, 84465755], [84502714, 84502985], [84508407, 84508482], [84509362, 84509452], [84511351, 84511445], [84515997, 84516113], [84518010, 84518066], [84518582, 84518668], [84519203, 84519332], [84519796, 84519876], [84525820, 84527028]] [[84457775, 84457916], [84465688, 84465755], [84502714, 84502985], [84508407, 84508482], [84509362, 84509452], [84511351, 84511445], [84515997, 84516113], [84518010, 84518066], [84518582, 84518668], [84519203, 84519332], [84519796, 84519876], [84525820, 84525920]]
ENST00000513683 [[84509410, 84509452], [84511351, 84511445], [84515997, 84516488]] None
ENST00000509044 [[84519681, 84519876], [84525820, 84526292]] None
NM_001256422 [[84457066, 84457170], [84457656, 84457916], [84465688, 84465755], [84502714, 84502985], [84508407, 84508482], [84509362, 84509452], [84511351, 84511445], [84515997, 84516113], [84518010, 84518066], [84518582, 84518668], [84519203, 84519332], [84519796, 84519876], [84525820, 84527028]] [[84457775, 84457916], [84465688, 84465755], [84502714, 84502985], [84508407, 84508482], [84509362, 84509452], [84511351, 84511445], [84515997, 84516113], [84518010, 84518066], [84518582, 84518668], [84519203, 84519332], [84519796, 84519876], [84525820, 84525920]]
NM_001256421 [[84457259, 84457359], [84457656, 84457916], [84465688, 84465755], [84502714, 84502985], [84508407, 84508482], [84509362, 84509452], [84511351, 84511445], [84515997, 84516113], [84518010, 84518066], [84518582, 84518668], [84519203, 84519332], [84519796, 84519876], [84525820, 84527028]] [[84457775, 84457916], [84465688, 84465755], [84502714, 84502985], [84508407, 84508482], [84509362, 84509452], [84511351, 84511445], [84515997, 84516113], [84518010, 84518066], [84518582, 84518668], [84519203, 84519332], [84519796, 84519876], [84525820, 84525920]]
NM_032717 [[84457469, 84457916], [84465688, 84465755], [84502714, 84502985], [84508407, 84508482], [84509362, 84509452], [84511351, 84511445], [84515997, 84516113], [84518010, 84518066], [84518582, 84518668], [84519203, 84519332], [84519796, 84519876], [84525820, 84527028]] [[84457775, 84457916], [84465688, 84465755], [84502714, 84502985], [84508407, 84508482], [84509362, 84509452], [84511351, 84511445], [84515997, 84516113], [84518010, 84518066], [84518582, 84518668], [84519203, 84519332], [84519796, 84519876], [84525820, 84525920]]
Promoter
Chrom Start End Description
chr4 84457152 84457163 CAGE_peak_6_at_AGPAT9_5end
chr4 84457221 84457234 CAGE_peak_5_at_AGPAT9_5end
chr4 84457250 84457268 CAGE_peak_2_at_AGPAT9_5end
chr4 84457389 84457400 CAGE_peak_4_at_AGPAT9_5end
chr4 84457414 84457501 CAGE_peak_1_at_AGPAT9_5end
chr4 84457529 84457541 CAGE_peak_8_at_AGPAT9_5end
chr4 84457628 84457666 CAGE_peak_3_at_AGPAT9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I083557 83557601 83558200 0.58 [{'connected_gene': 'GPAT3', 'score': 12.43}, {'connected_gene': 'ABRAXAS1', 'score': 11.62}, {'connected_gene': 'MRPS18C', 'score': 5.24}, {'connected_gene': 'GC04M083639', 'score': 0.18}, {'connected_gene': 'ENSG00000201633', 'score': 0.18}]
chr4 GH04I083640 83640008 83640157 0.74 [{'connected_gene': 'GPAT3', 'score': 12.37}, {'connected_gene': 'ABRAXAS1', 'score': 11.92}, {'connected_gene': 'NKX6-1', 'score': 9.75}, {'connected_gene': 'GC04M083639', 'score': 0.77}, {'connected_gene': 'ENSG00000201633', 'score': 0.77}, {'connected_gene': 'GC04M083654', 'score': 0.34}]
chr4 GH04I083629 83629524 83632792 1.41 [{'connected_gene': 'GPAT3', 'score': 18.92}, {'connected_gene': 'ABRAXAS1', 'score': 11.83}, {'connected_gene': 'THAP9-AS1', 'score': 4.21}, {'connected_gene': 'HPSE', 'score': 1.88}, {'connected_gene': 'GC04M083639', 'score': 0.44}, {'connected_gene': 'ENSG00000201633', 'score': 0.44}]
chr4 GH04I083567 83567288 83568538 0.2 [{'connected_gene': 'GPAT3', 'score': 12.19}, {'connected_gene': 'ABRAXAS1', 'score': 11.31}, {'connected_gene': 'GC04M083639', 'score': 0.2}, {'connected_gene': 'ENSG00000201633', 'score': 0.2}]
chr4 GH04I083617 83617158 83620136 1.12 [{'connected_gene': 'GPAT3', 'score': 19.48}, {'connected_gene': 'ABRAXAS1', 'score': 11.05}, {'connected_gene': 'GC04M083639', 'score': 0.37}, {'connected_gene': 'ENSG00000201633', 'score': 0.37}]
chr4 GH04I083558 83558348 83559600 1.02 [{'connected_gene': 'GPAT3', 'score': 17.31}, {'connected_gene': 'ABRAXAS1', 'score': 11.61}, {'connected_gene': 'GC04M083639', 'score': 0.18}, {'connected_gene': 'ENSG00000201633', 'score': 0.18}]
chr4 GH04I083504 83504296 83505303 0.51 [{'connected_gene': 'GPAT3', 'score': 12.31}, {'connected_gene': 'MRPS18C', 'score': 10.98}, {'connected_gene': 'RPL30P5', 'score': 0.77}, {'connected_gene': 'ABRAXAS1', 'score': 0.37}]
chr4 GH04I083535 83535063 83537824 2.2 [{'connected_gene': 'GPAT3', 'score': 550.77}, {'connected_gene': 'HELQ', 'score': 18.09}, {'connected_gene': 'MRPS18C', 'score': 11.54}, {'connected_gene': 'SEC31A', 'score': 9.79}, {'connected_gene': 'GC04M083639', 'score': 0.15}, {'connected_gene': 'ENSG00000201633', 'score': 0.15}]
chr4 GH04I083556 83556002 83557138 0.99 [{'connected_gene': 'GPAT3', 'score': 17.3}, {'connected_gene': 'HPSE', 'score': 6.73}, {'connected_gene': 'COQ2', 'score': 1.93}, {'connected_gene': 'HELQ', 'score': 1.75}, {'connected_gene': 'PLAC8', 'score': 1.39}, {'connected_gene': 'GC04M083639', 'score': 0.18}, {'connected_gene': 'ENSG00000201633', 'score': 0.18}]
chr4 GH04I083569 83569372 83571000 1 [{'connected_gene': 'GPAT3', 'score': 17.46}, {'connected_gene': 'HPSE', 'score': 9.08}, {'connected_gene': 'COQ2', 'score': 2.9}, {'connected_gene': 'HELQ', 'score': 2.13}, {'connected_gene': 'GC04M083639', 'score': 0.2}, {'connected_gene': 'ENSG00000201633', 'score': 0.2}]
chr4 GH04I083486 83486428 83486677 0.79 [{'connected_gene': 'GPAT3', 'score': 11.78}, {'connected_gene': 'SLC25A14P1', 'score': 0.44}, {'connected_gene': 'RPL30P5', 'score': 0.37}, {'connected_gene': 'ABRAXAS1', 'score': 0.28}]
chr4 GH04I083562 83562801 83563200 0.2 [{'connected_gene': 'GPAT3', 'score': 12.2}, {'connected_gene': 'GC04M083639', 'score': 0.19}, {'connected_gene': 'ENSG00000201633', 'score': 0.19}]
chr4 GH04I083543 83542336 83542494 0.84 [{'connected_gene': 'GPAT3', 'score': 0.44}, {'connected_gene': 'GC04M083639', 'score': 0.16}, {'connected_gene': 'ENSG00000201633', 'score': 0.16}]
chr4 GH04I083582 83582188 83582717 1.14 [{'connected_gene': 'GPAT3', 'score': 5.46}, {'connected_gene': 'GC04M083639', 'score': 0.23}, {'connected_gene': 'ENSG00000201633', 'score': 0.23}]
chr4 GH04I083657 83657070 83657841 0.49 [{'connected_gene': 'GPAT3', 'score': 6.29}, {'connected_gene': 'GC04M083654', 'score': 0.77}, {'connected_gene': 'GC04M083639', 'score': 0.34}, {'connected_gene': 'ENSG00000201633', 'score': 0.34}, {'connected_gene': 'GC04M083646', 'score': 0.15}]
chr4 GH04I083574 83574408 83574617 0.63 [{'connected_gene': 'GPAT3', 'score': 5.19}, {'connected_gene': 'GC04M083639', 'score': 0.21}, {'connected_gene': 'ENSG00000201633', 'score': 0.21}]
chr4 GH04I083625 83625433 83627138 0.46 [{'connected_gene': 'GPAT3', 'score': 19.53}, {'connected_gene': 'GC04M083639', 'score': 0.39}, {'connected_gene': 'ENSG00000201633', 'score': 0.39}]
chr4 GH04I083561 83561400 83561801 0.99 [{'connected_gene': 'GPAT3', 'score': 12.2}, {'connected_gene': 'GC04M083639', 'score': 0.19}, {'connected_gene': 'ENSG00000201633', 'score': 0.19}]
chr4 GH04I083549 83549876 83551596 0.31 [{'connected_gene': 'ABRAXAS1', 'score': 11.99}, {'connected_gene': 'GPAT3', 'score': 0.39}, {'connected_gene': 'GC04M083639', 'score': 0.17}, {'connected_gene': 'ENSG00000201633', 'score': 0.17}]
chr4 GH04I083546 83546800 83547201 0.74 [{'connected_gene': 'ABRAXAS1', 'score': 11.33}, {'connected_gene': 'GPAT3', 'score': 0.39}, {'connected_gene': 'GC04M083639', 'score': 0.17}, {'connected_gene': 'ENSG00000201633', 'score': 0.17}]
chr4 GH04I083554 83554776 83555954 0.31 [{'connected_gene': 'ABRAXAS1', 'score': 11.18}, {'connected_gene': 'MRPS18C', 'score': 5.36}, {'connected_gene': 'GPAT3', 'score': 4.95}, {'connected_gene': 'GC04M083639', 'score': 0.18}, {'connected_gene': 'ENSG00000201633', 'score': 0.18}]
chr4 GH04I083542 83542990 83544983 0.74 [{'connected_gene': 'ABRAXAS1', 'score': 11.74}, {'connected_gene': 'MRPS18C', 'score': 9.2}, {'connected_gene': 'HELQ', 'score': 6.58}, {'connected_gene': 'GPAT3', 'score': 0.44}, {'connected_gene': 'GC04M083639', 'score': 0.16}, {'connected_gene': 'ENSG00000201633', 'score': 0.16}]
chr4 GH04I083484 83484001 83486276 2.04 [{'connected_gene': 'ABRAXAS1', 'score': 554.94}, {'connected_gene': 'HELQ', 'score': 15.5}, {'connected_gene': 'MRPS18C', 'score': 12.23}, {'connected_gene': 'SEC31A', 'score': 12.17}, {'connected_gene': 'GPAT3', 'score': 11.77}, {'connected_gene': 'SLC25A14P1', 'score': 0.44}, {'connected_gene': 'RPL30P5', 'score': 0.37}]
chr4 GH04I083547 83547602 83549430 1.64 [{'connected_gene': 'ABRAXAS1', 'score': 11.99}, {'connected_gene': 'HPSE', 'score': 9.16}, {'connected_gene': 'GPAT3', 'score': 6.51}, {'connected_gene': 'MRPS18C', 'score': 5.06}, {'connected_gene': 'PLAC8', 'score': 3.8}, {'connected_gene': 'COQ2', 'score': 2.17}, {'connected_gene': 'HELQ', 'score': 1.94}, {'connected_gene': 'GC04M083639', 'score': 0.17}, {'connected_gene': 'ENSG00000201633', 'score': 0.17}]
chr4 GH04I083551 83551865 83553737 1.46 [{'connected_gene': 'ABRAXAS1', 'score': 11.99}, {'connected_gene': 'HPSE', 'score': 8.45}, {'connected_gene': 'MRPS18C', 'score': 5.48}, {'connected_gene': 'PLAC8', 'score': 2.74}, {'connected_gene': 'COQ2', 'score': 2.18}, {'connected_gene': 'HELQ', 'score': 1.9}, {'connected_gene': 'GPAT3', 'score': 0.37}, {'connected_gene': 'GC04M083639', 'score': 0.18}, {'connected_gene': 'ENSG00000201633', 'score': 0.18}]
chr4 GH04I082686 82686868 82688698 0.58 [{'connected_gene': 'MIR575', 'score': 11.82}, {'connected_gene': 'PQLC1P2', 'score': 7.35}, {'connected_gene': 'TMEM150C', 'score': 6.38}, {'connected_gene': 'GPAT3', 'score': 5.07}, {'connected_gene': 'LINC00575', 'score': 0.2}, {'connected_gene': 'SCD5', 'score': 0.14}]
chr4 GH04I082712 82712338 82714872 0.31 [{'connected_gene': 'TMEM150C', 'score': 16.99}, {'connected_gene': 'MIR575', 'score': 11.22}, {'connected_gene': 'GPAT3', 'score': 5.59}, {'connected_gene': 'PIR47609', 'score': 0.39}, {'connected_gene': 'SCD5', 'score': 0.17}]
chr4 GH04I082695 82695786 82699665 0.38 [{'connected_gene': 'TMEM150C', 'score': 20.25}, {'connected_gene': 'MIR575', 'score': 11.32}, {'connected_gene': 'GPAT3', 'score': 5.07}, {'connected_gene': 'PQLC1P2', 'score': 4.44}, {'connected_gene': 'PIR47609', 'score': 0.44}, {'connected_gene': 'SCD5', 'score': 0.15}]
chr4 GH04I082662 82662684 82664054 0.2 [{'connected_gene': 'TMEM150C', 'score': 17.14}, {'connected_gene': 'MIR575', 'score': 10.72}, {'connected_gene': 'SCD5', 'score': 5.41}, {'connected_gene': 'GPAT3', 'score': 4.56}, {'connected_gene': 'PQLC1P2', 'score': 0.31}, {'connected_gene': 'LINC00575', 'score': 0.26}]
chr4 GH04I082674 82674758 82679153 0.52 [{'connected_gene': 'TMEM150C', 'score': 16.84}, {'connected_gene': 'MIR575', 'score': 10.64}, {'connected_gene': 'PQLC1P2', 'score': 6.98}, {'connected_gene': 'SCD5', 'score': 4.97}, {'connected_gene': 'GPAT3', 'score': 4.56}, {'connected_gene': 'LINC00575', 'score': 0.22}]
chr4 GH04I082667 82667534 82669965 0.31 [{'connected_gene': 'TMEM150C', 'score': 15.75}, {'connected_gene': 'MIR575', 'score': 10.74}, {'connected_gene': 'PQLC1P2', 'score': 5.87}, {'connected_gene': 'SCD5', 'score': 5.24}, {'connected_gene': 'GPAT3', 'score': 4.56}, {'connected_gene': 'LINC00575', 'score': 0.25}]
chr4 GH04I083581 83581748 83582000 1.03 [{'connected_gene': 'HELQ', 'score': 5.96}, {'connected_gene': 'GPAT3', 'score': 0.25}, {'connected_gene': 'GC04M083639', 'score': 0.23}, {'connected_gene': 'ENSG00000201633', 'score': 0.23}]
chr4 GH04I083454 83454253 83458036 2.11 [{'connected_gene': 'HELQ', 'score': 586.08}, {'connected_gene': 'MRPS18C', 'score': 562.51}, {'connected_gene': 'ABRAXAS1', 'score': 19.21}, {'connected_gene': 'SEC31A', 'score': 18.7}, {'connected_gene': 'HPSE', 'score': 10.42}, {'connected_gene': 'GPAT3', 'score': 10.11}, {'connected_gene': 'SLC25A14P1', 'score': 0.34}]
chr4 GH04I083477 83477472 83477837 0.22 [{'connected_gene': 'SLC25A14P1', 'score': 550.77}, {'connected_gene': 'MRPS18C', 'score': 11.72}, {'connected_gene': 'GPAT3', 'score': 10.76}, {'connected_gene': 'RPL30P5', 'score': 0.31}, {'connected_gene': 'ABRAXAS1', 'score': 0.25}]
chr4 GH04I082704 82704435 82705517 0.2 [{'connected_gene': 'PIR47609', 'score': 550.77}, {'connected_gene': 'TMEM150C', 'score': 16.24}, {'connected_gene': 'MIR575', 'score': 11.35}, {'connected_gene': 'GPAT3', 'score': 5.08}, {'connected_gene': 'PQLC1P2', 'score': 4.67}, {'connected_gene': 'SCD5', 'score': 0.16}]

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