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
ENST00000254262 [[33463114, 33463252], [33464089, 33464208], [33464389, 33464468], [33464965, 33465118], [33467336, 33467722]] [[33464102, 33464208], [33464389, 33464468], [33464965, 33464990]]
ENST00000589646 [[33463126, 33463252], [33464331, 33464468], [33464965, 33465118], [33467336, 33467756]] [[33465007, 33465118], [33467336, 33467588]]
ENST00000588258 [[33463155, 33463252], [33464089, 33464208], [33464331, 33464468], [33464965, 33465118], [33467336, 33469128]] [[33464102, 33464208], [33464331, 33464468], [33464965, 33465118], [33467336, 33467588]]
ENST00000590179 [[33463165, 33463252], [33464965, 33465118], [33467336, 33467880]] [[33465007, 33465118], [33467336, 33467588]]
ENST00000590281 [[33463209, 33463283], [33464089, 33464208], [33464331, 33464468], [33464965, 33465118], [33467336, 33467718]] [[33464102, 33464208], [33464331, 33464468], [33464965, 33465118], [33467336, 33467588]]
ENST00000591791 [[33467891, 33468222], [33468402, 33468839]] None
NM_001300978 [[33463122, 33463252], [33464965, 33465118], [33467336, 33468401]] [[33465007, 33465118], [33467336, 33467588]]
NM_152266 [[33463122, 33463252], [33464089, 33464208], [33464331, 33464468], [33464965, 33465118], [33467336, 33468401]] [[33464102, 33464208], [33464331, 33464468], [33464965, 33465118], [33467336, 33467588]]
Promoter
Chrom Start End Description
chr19 33463135 33463195 CAGE_peak_1_at_C19orf40_5end
chr19 33463213 33463226 CAGE_peak_2_at_C19orf40_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I032970 32970953 32972848 2.07 [{'connected_gene': 'FAAP24', 'score': 569.33}, {'connected_gene': 'CEP89', 'score': 550.77}, {'connected_gene': 'ZNF507', 'score': 23.18}, {'connected_gene': 'GPATCH1', 'score': 13.66}, {'connected_gene': 'PDCD5', 'score': 10.23}, {'connected_gene': 'GC19M032886', 'score': 0.77}, {'connected_gene': 'GC19P032951', 'score': 0.34}]
chr19 GH19I032674 32674152 32676644 2.05 [{'connected_gene': 'ANKRD27', 'score': 576.36}, {'connected_gene': 'RGS9BP', 'score': 560.52}, {'connected_gene': 'GC19P032679', 'score': 550.77}, {'connected_gene': 'PIR59221', 'score': 550.77}, {'connected_gene': 'GPATCH1', 'score': 80.52}, {'connected_gene': 'ZNF507', 'score': 77.15}, {'connected_gene': 'CEP89', 'score': 58.98}, {'connected_gene': 'FAAP24', 'score': 10.27}, {'connected_gene': 'PDCD5', 'score': 10.09}, {'connected_gene': 'ENSG00000267557', 'score': 0.44}, {'connected_gene': 'NUDT19', 'score': 0.44}]
chr19 GH19I033296 33296107 33306704 2.54 [{'connected_gene': 'CEBPA-AS1', 'score': 562.26}, {'connected_gene': 'CEBPA', 'score': 552.18}, {'connected_gene': 'ENSG00000267580', 'score': 550.77}, {'connected_gene': 'GC19M033302', 'score': 550.77}, {'connected_gene': 'ENSG00000267727', 'score': 550.77}, {'connected_gene': 'GPATCH1', 'score': 123.42}, {'connected_gene': 'ZNF507', 'score': 108.66}, {'connected_gene': 'CEP89', 'score': 90.23}, {'connected_gene': 'LSM14A', 'score': 74.13}, {'connected_gene': 'KIAA0355', 'score': 54.83}, {'connected_gene': 'PDCD5', 'score': 26.87}, {'connected_gene': 'FAAP24', 'score': 14.63}, {'connected_gene': 'WDR88', 'score': 12.11}, {'connected_gene': 'CEBPG', 'score': 11.72}, {'connected_gene': 'DPY19L3', 'score': 9.84}, {'connected_gene': 'PEPD', 'score': 8.99}, {'connected_gene': 'SLC7A9', 'score': 2.26}, {'connected_gene': 'PIR50844', 'score': 0.77}, {'connected_gene': 'GC19P033308', 'score': 0.77}, {'connected_gene': 'GC19M033303', 'score': 0.77}, {'connected_gene': 'ENSG00000267130', 'score': 0.77}]
chr19 GH19I033795 33794479 33800079 2.26 [{'connected_gene': 'KCTD15', 'score': 559.94}, {'connected_gene': 'GPATCH1', 'score': 113.2}, {'connected_gene': 'CEP89', 'score': 94.38}, {'connected_gene': 'ZNF599', 'score': 92.24}, {'connected_gene': 'LSM14A', 'score': 69.96}, {'connected_gene': 'KIAA0355', 'score': 49.8}, {'connected_gene': 'ZNF302', 'score': 40.86}, {'connected_gene': 'ZNF181', 'score': 39.23}, {'connected_gene': 'WDR88', 'score': 12.04}, {'connected_gene': 'FAAP24', 'score': 10.24}, {'connected_gene': 'RPL29P33', 'score': 10.08}, {'connected_gene': 'PEPD', 'score': 4.58}, {'connected_gene': 'PIR44876', 'score': 0.37}]
chr19 GH19I033045 33045894 33050808 1.51 [{'connected_gene': 'GPATCH1', 'score': 22.53}, {'connected_gene': 'RHPN2', 'score': 22.01}, {'connected_gene': 'ZNF507', 'score': 18.57}, {'connected_gene': 'CEP89', 'score': 14.92}, {'connected_gene': 'PDCD5', 'score': 9.73}, {'connected_gene': 'FAAP24', 'score': 4.34}, {'connected_gene': 'NUDT19', 'score': 1.58}, {'connected_gene': 'ENSG00000267611', 'score': 0.77}, {'connected_gene': 'GC19M033010', 'score': 0.28}]
chr19 GH19I033039 33038730 33045017 1.67 [{'connected_gene': 'GPATCH1', 'score': 34.25}, {'connected_gene': 'CEP89', 'score': 28.93}, {'connected_gene': 'RHPN2', 'score': 25.75}, {'connected_gene': 'FAAP24', 'score': 20.53}, {'connected_gene': 'ZNF507', 'score': 9.78}, {'connected_gene': 'ANKRD27', 'score': 2.04}, {'connected_gene': 'PDCD5', 'score': 1.94}, {'connected_gene': 'NUDT19', 'score': 1.76}, {'connected_gene': 'ENSG00000267611', 'score': 0.44}, {'connected_gene': 'GC19M033010', 'score': 0.29}]
chr19 GH19I033505 33505961 33506611 0.96 [{'connected_gene': 'GPATCH1', 'score': 155.65}, {'connected_gene': 'CEP89', 'score': 119.47}, {'connected_gene': 'LSM14A', 'score': 91.28}, {'connected_gene': 'KIAA0355', 'score': 77.37}, {'connected_gene': 'FAAP24', 'score': 21.53}, {'connected_gene': 'ENSG00000267219', 'score': 18.4}, {'connected_gene': 'WDR88', 'score': 12.06}, {'connected_gene': 'WTIP', 'score': 11.89}, {'connected_gene': 'PDCD5', 'score': 9.72}, {'connected_gene': 'PEPD', 'score': 5.41}, {'connected_gene': 'LRP3', 'score': 1.28}, {'connected_gene': 'GC19M033516', 'score': 0.39}, {'connected_gene': 'GC19P033457', 'score': 0.25}]
chr19 GH19I033277 33277934 33281000 1.63 [{'connected_gene': 'GPATCH1', 'score': 88.88}, {'connected_gene': 'CEP89', 'score': 81.26}, {'connected_gene': 'LSM14A', 'score': 78.74}, {'connected_gene': 'ZNF507', 'score': 56.68}, {'connected_gene': 'KIAA0355', 'score': 44.52}, {'connected_gene': 'FAAP24', 'score': 30.7}, {'connected_gene': 'PDCD5', 'score': 15.11}, {'connected_gene': 'WDR88', 'score': 12.12}, {'connected_gene': 'CEBPG', 'score': 11.61}, {'connected_gene': 'CEBPA', 'score': 1.54}, {'connected_gene': 'PIR37620', 'score': 0.77}, {'connected_gene': 'SLC7A10', 'score': 0.23}]
chr19 GH19I032745 32745538 32746351 0.89 [{'connected_gene': 'GPATCH1', 'score': 128.13}, {'connected_gene': 'CEP89', 'score': 100.3}, {'connected_gene': 'ZNF507', 'score': 68.28}, {'connected_gene': 'FAAP24', 'score': 34.3}, {'connected_gene': 'WDR88', 'score': 12.06}, {'connected_gene': 'PDCD5', 'score': 10.23}, {'connected_gene': 'GC19P032723', 'score': 0.34}, {'connected_gene': 'TDRD12', 'score': 0.31}, {'connected_gene': 'GC19M032770', 'score': 0.31}]
chr19 GH19I033051 33051018 33056624 1.61 [{'connected_gene': 'GPATCH1', 'score': 51.47}, {'connected_gene': 'CEP89', 'score': 33.27}, {'connected_gene': 'ZNF507', 'score': 22.17}, {'connected_gene': 'RHPN2', 'score': 17.36}, {'connected_gene': 'FAAP24', 'score': 13.2}, {'connected_gene': 'DPY19L3', 'score': 9.84}, {'connected_gene': 'WDR88', 'score': 5.44}, {'connected_gene': 'ENSG00000267611', 'score': 0.77}]
chr19 GH19I033247 33247358 33250383 1.43 [{'connected_gene': 'GPATCH1', 'score': 167.62}, {'connected_gene': 'CEP89', 'score': 146.26}, {'connected_gene': 'ZNF507', 'score': 137.94}, {'connected_gene': 'LSM14A', 'score': 110.19}, {'connected_gene': 'FAAP24', 'score': 34.29}, {'connected_gene': 'PDCD5', 'score': 31.9}, {'connected_gene': 'WDR88', 'score': 12.14}, {'connected_gene': 'SLC7A10', 'score': 0.34}, {'connected_gene': 'PIR37620', 'score': 0.29}]
chr19 GH19I033819 33819244 33822041 1.71 [{'connected_gene': 'GPATCH1', 'score': 188.76}, {'connected_gene': 'CEP89', 'score': 127.64}, {'connected_gene': 'ZNF599', 'score': 118.0}, {'connected_gene': 'LSM14A', 'score': 113.43}, {'connected_gene': 'KIAA0355', 'score': 77.28}, {'connected_gene': 'ZNF181', 'score': 58.06}, {'connected_gene': 'ENSG00000267219', 'score': 36.16}, {'connected_gene': 'WTIP', 'score': 31.15}, {'connected_gene': 'FAAP24', 'score': 21.53}, {'connected_gene': 'ENSG00000271049', 'score': 20.27}, {'connected_gene': 'KCTD15', 'score': 19.45}, {'connected_gene': 'CHST8', 'score': 10.59}, {'connected_gene': 'RPL29P33', 'score': 10.08}, {'connected_gene': 'UBA2', 'score': 9.93}, {'connected_gene': 'ZNF807', 'score': 9.67}, {'connected_gene': 'ENSG00000270281', 'score': 9.67}, {'connected_gene': 'PIR48101', 'score': 0.44}, {'connected_gene': 'GC19P033834', 'score': 0.39}]
chr19 GH19I033289 33289081 33295597 1.69 [{'connected_gene': 'GPATCH1', 'score': 86.18}, {'connected_gene': 'LSM14A', 'score': 84.1}, {'connected_gene': 'CEP89', 'score': 82.73}, {'connected_gene': 'KIAA0355', 'score': 56.0}, {'connected_gene': 'ZNF507', 'score': 54.26}, {'connected_gene': 'PDCD5', 'score': 29.78}, {'connected_gene': 'FAAP24', 'score': 21.56}, {'connected_gene': 'CEBPG', 'score': 14.06}, {'connected_gene': 'WDR88', 'score': 12.11}, {'connected_gene': 'CHST8', 'score': 10.56}, {'connected_gene': 'CEBPA-AS1', 'score': 10.42}, {'connected_gene': 'DPY19L3', 'score': 9.84}, {'connected_gene': 'PEPD', 'score': 6.31}, {'connected_gene': 'CEBPA', 'score': 1.75}, {'connected_gene': 'ENSG00000267580', 'score': 0.44}, {'connected_gene': 'ENSG00000270212', 'score': 0.44}]
chr19 GH19I033080 33080545 33082201 2.28 [{'connected_gene': 'GPATCH1', 'score': 575.9}, {'connected_gene': 'ZNF507', 'score': 30.36}, {'connected_gene': 'PDCD5', 'score': 15.12}, {'connected_gene': 'FAAP24', 'score': 14.72}, {'connected_gene': 'RHPN2', 'score': 14.01}, {'connected_gene': 'CEP89', 'score': 11.13}, {'connected_gene': 'WDR88', 'score': 0.23}]
chr19 GH19I032397 32397132 32398575 0.9 [{'connected_gene': 'GPATCH1', 'score': 179.12}, {'connected_gene': 'ZNF507', 'score': 130.02}, {'connected_gene': 'CEP89', 'score': 118.23}, {'connected_gene': 'PDCD5', 'score': 47.09}, {'connected_gene': 'FAAP24', 'score': 10.24}, {'connected_gene': 'LOC400684', 'score': 9.71}, {'connected_gene': 'DPY19L3', 'score': 0.44}, {'connected_gene': 'GC19M032380', 'score': 0.39}]
chr19 GH19I033273 33273402 33276704 1.71 [{'connected_gene': 'GPATCH1', 'score': 161.58}, {'connected_gene': 'ZNF507', 'score': 136.46}, {'connected_gene': 'CEP89', 'score': 134.1}, {'connected_gene': 'LSM14A', 'score': 100.67}, {'connected_gene': 'KIAA0355', 'score': 81.1}, {'connected_gene': 'PDCD5', 'score': 35.24}, {'connected_gene': 'CEBPG', 'score': 12.86}, {'connected_gene': 'WDR88', 'score': 12.12}, {'connected_gene': 'FAAP24', 'score': 10.27}, {'connected_gene': 'DPY19L3', 'score': 9.84}, {'connected_gene': 'CEBPA', 'score': 4.45}, {'connected_gene': 'PIR37620', 'score': 0.44}, {'connected_gene': 'SLC7A10', 'score': 0.25}]
chr19 GH19I033519 33519948 33522444 2.03 [{'connected_gene': 'PEPD', 'score': 556.96}, {'connected_gene': 'GC19M033516', 'score': 550.77}, {'connected_gene': 'LOC105372370', 'score': 550.77}, {'connected_gene': 'GPATCH1', 'score': 97.38}, {'connected_gene': 'LSM14A', 'score': 81.73}, {'connected_gene': 'CEP89', 'score': 80.09}, {'connected_gene': 'KIAA0355', 'score': 65.27}, {'connected_gene': 'FAAP24', 'score': 21.53}, {'connected_gene': 'WDR88', 'score': 12.06}, {'connected_gene': 'ENSG00000267219', 'score': 10.67}, {'connected_gene': 'WTIP', 'score': 10.51}, {'connected_gene': 'PDCD5', 'score': 10.21}, {'connected_gene': 'CHST8', 'score': 4.89}]
chr19 GH19I033175 33175815 33178465 1.93 [{'connected_gene': 'LRP3', 'score': 552.06}, {'connected_gene': 'ENSG00000267054', 'score': 550.77}, {'connected_gene': 'GC19M033175', 'score': 550.77}, {'connected_gene': 'TRT-AGT1-3', 'score': 550.77}, {'connected_gene': 'GPATCH1', 'score': 103.97}, {'connected_gene': 'CEP89', 'score': 102.02}, {'connected_gene': 'ZNF507', 'score': 82.9}, {'connected_gene': 'LSM14A', 'score': 80.28}, {'connected_gene': 'WDR88', 'score': 26.57}, {'connected_gene': 'PDCD5', 'score': 26.08}, {'connected_gene': 'SLC7A10', 'score': 14.38}, {'connected_gene': 'FAAP24', 'score': 10.3}, {'connected_gene': 'CHST8', 'score': 9.84}, {'connected_gene': 'DPY19L3', 'score': 9.84}, {'connected_gene': 'RGS9BP', 'score': 4.57}]
chr19 GH19I032691 32690734 32693704 2.09 [{'connected_gene': 'NUDT19', 'score': 580.33}, {'connected_gene': 'ENSG00000267475', 'score': 574.72}, {'connected_gene': 'PIR51776', 'score': 550.77}, {'connected_gene': 'PIR48211', 'score': 550.77}, {'connected_gene': 'CEP89', 'score': 68.82}, {'connected_gene': 'GPATCH1', 'score': 56.51}, {'connected_gene': 'ZNF507', 'score': 46.83}, {'connected_gene': 'FAAP24', 'score': 24.15}, {'connected_gene': 'PDCD5', 'score': 23.27}, {'connected_gene': 'SLC7A9', 'score': 13.45}, {'connected_gene': 'CHST8', 'score': 10.53}, {'connected_gene': 'ANKRD27', 'score': 10.02}, {'connected_gene': 'DPY19L3', 'score': 9.88}, {'connected_gene': 'TDRD12', 'score': 9.6}]
chr19 GH19I032746 32746935 32747084 0.88 [{'connected_gene': 'ZNF507', 'score': 48.61}, {'connected_gene': 'GPATCH1', 'score': 47.35}, {'connected_gene': 'CEP89', 'score': 41.25}, {'connected_gene': 'ENSG00000267475', 'score': 15.92}, {'connected_gene': 'FAAP24', 'score': 14.65}, {'connected_gene': 'WDR88', 'score': 12.06}, {'connected_gene': 'PDCD5', 'score': 10.23}, {'connected_gene': 'DPY19L3', 'score': 9.86}, {'connected_gene': 'ANKRD27', 'score': 5.38}, {'connected_gene': 'GC19M032770', 'score': 0.34}, {'connected_gene': 'GC19P032723', 'score': 0.34}, {'connected_gene': 'TDRD12', 'score': 0.31}]
chr19 GH19I032343 32343105 32347551 2.08 [{'connected_gene': 'ZNF507', 'score': 608.08}, {'connected_gene': 'GPATCH1', 'score': 87.23}, {'connected_gene': 'CEP89', 'score': 79.83}, {'connected_gene': 'PDCD5', 'score': 26.49}, {'connected_gene': 'FAAP24', 'score': 21.53}, {'connected_gene': 'DPY19L3', 'score': 15.28}, {'connected_gene': 'LOC400684', 'score': 10.57}, {'connected_gene': 'ANKRD27', 'score': 9.71}, {'connected_gene': 'GC19M032297', 'score': 0.28}]
chr19 GH19I033776 33776907 33779633 1.22 [{'connected_gene': 'ZNF599', 'score': 89.53}, {'connected_gene': 'CEP89', 'score': 83.96}, {'connected_gene': 'GPATCH1', 'score': 77.91}, {'connected_gene': 'LSM14A', 'score': 73.25}, {'connected_gene': 'KIAA0355', 'score': 45.18}, {'connected_gene': 'FAAP24', 'score': 34.25}, {'connected_gene': 'ZNF302', 'score': 26.77}, {'connected_gene': 'ZNF181', 'score': 22.51}, {'connected_gene': 'WDR88', 'score': 12.04}, {'connected_gene': 'ENSG00000267219', 'score': 9.91}, {'connected_gene': 'KCTD15', 'score': 0.37}, {'connected_gene': 'GC19P033749', 'score': 0.31}]
chr19 GH19I032976 32976315 32976484 0.7 [{'connected_gene': 'WDR88', 'score': 10.91}, {'connected_gene': 'FAAP24', 'score': 7.39}, {'connected_gene': 'GC19P032992', 'score': 0.37}, {'connected_gene': 'GC19P032951', 'score': 0.34}]
chr19 GH19I033143 33143833 33144600 1.12 [{'connected_gene': 'WDR88', 'score': 8.22}, {'connected_gene': 'RHPN2', 'score': 6.16}, {'connected_gene': 'FAAP24', 'score': 4.39}, {'connected_gene': 'GC19M033175', 'score': 0.29}]
chr19 GH19I032902 32902015 32903218 0.49 [{'connected_gene': 'SLC7A9', 'score': 26.81}, {'connected_gene': 'FAAP24', 'score': 13.56}, {'connected_gene': 'GC19P032905', 'score': 0.77}, {'connected_gene': 'GC19P032875', 'score': 0.31}, {'connected_gene': 'GC19M032886', 'score': 0.2}, {'connected_gene': 'CEP89', 'score': 0.2}]
chr19 GH19I032977 32977179 32977874 0.66 [{'connected_gene': 'SLC7A9', 'score': 19.54}, {'connected_gene': 'FAAP24', 'score': 13.01}, {'connected_gene': 'WDR88', 'score': 10.91}, {'connected_gene': 'GC19P032992', 'score': 0.39}, {'connected_gene': 'GC19P032951', 'score': 0.31}]
chr19 GH19I032868 32868647 32871225 1.28 [{'connected_gene': 'SLC7A9', 'score': 572.5}, {'connected_gene': 'NUDT19', 'score': 15.39}, {'connected_gene': 'FAAP24', 'score': 14.75}, {'connected_gene': 'ANKRD27', 'score': 9.89}, {'connected_gene': 'RGS9BP', 'score': 9.89}, {'connected_gene': 'CHST8', 'score': 4.84}, {'connected_gene': 'RN7SKP22', 'score': 0.44}, {'connected_gene': 'GC19M032863', 'score': 0.44}]
chr19 GH19I033370 33370355 33379042 2.31 [{'connected_gene': 'CEBPG', 'score': 562.64}, {'connected_gene': 'GPATCH1', 'score': 149.88}, {'connected_gene': 'LSM14A', 'score': 134.31}, {'connected_gene': 'CEP89', 'score': 130.24}, {'connected_gene': 'KIAA0355', 'score': 63.27}, {'connected_gene': 'FAAP24', 'score': 33.07}, {'connected_gene': 'PDCD5', 'score': 28.69}, {'connected_gene': 'ENSG00000267219', 'score': 19.15}, {'connected_gene': 'WDR88', 'score': 12.08}, {'connected_gene': 'ANKRD27', 'score': 9.68}, {'connected_gene': 'CHST8', 'score': 8.88}, {'connected_gene': 'GC19P033418', 'score': 0.26}]
chr19 GH19I032991 32991401 32991800 0.38 [{'connected_gene': 'GC19M032992', 'score': 550.77}, {'connected_gene': 'GC19P032992', 'score': 550.77}, {'connected_gene': 'RHPN2', 'score': 11.18}, {'connected_gene': 'FAAP24', 'score': 6.02}]

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