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
ENST00000266673 [[72079866, 72080590], [72083370, 72083484], [72090215, 72090353], [72091059, 72091314], [72092679, 72092889], [72094611, 72097836]] [[72080460, 72080590], [72083370, 72083484], [72090215, 72090353], [72091059, 72091314], [72092679, 72092889], [72094611, 72094775]]
ENST00000550524 [[72079893, 72080100], [72080439, 72080590], [72083370, 72083484], [72090215, 72090353], [72091059, 72091188]] [[72080460, 72080590], [72083370, 72083484], [72090215, 72090353], [72091059, 72091188]]
ENST00000549735 [[72080275, 72080590], [72083370, 72083484], [72090215, 72090353], [72091059, 72091314], [72092679, 72093629]] [[72080460, 72080590], [72083370, 72083484], [72090215, 72090353], [72091059, 72091314], [72092679, 72092939]]
ENST00000546677 [[72083403, 72083484], [72084118, 72084210], [72090215, 72090353], [72091059, 72091314], [72092679, 72092774]] [[72090274, 72090353], [72091059, 72091314], [72092679, 72092774]]
ENST00000546795 [[72091145, 72091314], [72092679, 72092889], [72094611, 72094658], [72097756, 72097836]] [[72091145, 72091314], [72092679, 72092889], [72094611, 72094658], [72097756, 72097831]]
ENST00000550787 [[72091231, 72091314], [72092679, 72092889], [72094611, 72094805], [72097756, 72097836]] [[72091231, 72091314], [72092679, 72092889], [72094611, 72094775]]
NM_018279 [[72079877, 72080590], [72083370, 72083484], [72090215, 72090353], [72091059, 72091314], [72092679, 72092889], [72094611, 72097840]] [[72080460, 72080590], [72083370, 72083484], [72090215, 72090353], [72091059, 72091314], [72092679, 72092889], [72094611, 72094775]]
Promoter
Chrom Start End Description
chr12 72079842 72079890 CAGE_peak_1_at_TMEM19_5end
chr12 72080145 72080169 CAGE_peak_5_at_TMEM19_5end
chr12 72080171 72080193 CAGE_peak_4_at_TMEM19_5end
chr12 72080253 72080293 CAGE_peak_3_at_TMEM19_5end
chr12 72080299 72080335 CAGE_peak_2_at_TMEM19_5end
chr12 72080344 72080367 CAGE_peak_6_at_TMEM19_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I071654 71654469 71656364 0.62 [{'connected_gene': 'TMEM19', 'score': 11.55}, {'connected_gene': 'ENSG00000257515', 'score': 6.39}, {'connected_gene': 'THAP2', 'score': 0.44}, {'connected_gene': 'ZFC3H1', 'score': 0.39}, {'connected_gene': 'ENSG00000212461', 'score': 0.37}]
chr12 GH12I071747 71747101 71747250 0.64 [{'connected_gene': 'TMEM19', 'score': 11.39}, {'connected_gene': 'ZFC3H1', 'score': 11.13}, {'connected_gene': 'THAP2', 'score': 11.12}, {'connected_gene': 'ENSG00000212461', 'score': 10.96}, {'connected_gene': 'RAB21', 'score': 0.44}, {'connected_gene': 'ENSG00000257515', 'score': 0.28}]
chr12 GH12I071650 71650447 71653218 0.56 [{'connected_gene': 'TMEM19', 'score': 11.55}, {'connected_gene': 'ENSG00000257515', 'score': 7.26}, {'connected_gene': 'ZFC3H1', 'score': 5.32}, {'connected_gene': 'THAP2', 'score': 0.39}, {'connected_gene': 'ENSG00000212461', 'score': 0.39}]
chr12 GH12I071658 71658352 71660740 0.2 [{'connected_gene': 'TMEM19', 'score': 11.56}, {'connected_gene': 'ENSG00000212461', 'score': 11.49}, {'connected_gene': 'ENSG00000257515', 'score': 7.32}, {'connected_gene': 'ZFC3H1', 'score': 4.57}, {'connected_gene': 'THAP2', 'score': 0.77}]
chr12 GH12I071719 71719592 71720743 0.31 [{'connected_gene': 'TMEM19', 'score': 11.25}, {'connected_gene': 'ZFC3H1', 'score': 10.99}, {'connected_gene': 'ENSG00000257515', 'score': 6.51}, {'connected_gene': 'RAB21', 'score': 0.29}]
chr12 GH12I071731 71731471 71732469 1.13 [{'connected_gene': 'TMEM19', 'score': 11.77}, {'connected_gene': 'ZFC3H1', 'score': 11.57}, {'connected_gene': 'ENSG00000257515', 'score': 6.69}, {'connected_gene': 'RAB21', 'score': 0.34}]
chr12 GH12I071721 71721888 71722428 0.62 [{'connected_gene': 'TMEM19', 'score': 11.23}, {'connected_gene': 'ZFC3H1', 'score': 10.99}, {'connected_gene': 'ENSG00000257515', 'score': 0.39}, {'connected_gene': 'RAB21', 'score': 0.29}]
chr12 GH12I071683 71683681 71689752 2.27 [{'connected_gene': 'TMEM19', 'score': 550.77}, {'connected_gene': 'ENSG00000257515', 'score': 7.6}, {'connected_gene': 'ENSG00000258064', 'score': 0.39}]
chr12 GH12I071753 71753104 71753160 0.89 [{'connected_gene': 'RAB21', 'score': 550.77}, {'connected_gene': 'TMEM19', 'score': 11.42}, {'connected_gene': 'ZFC3H1', 'score': 11.24}, {'connected_gene': 'THAP2', 'score': 11.23}, {'connected_gene': 'ENSG00000212461', 'score': 10.82}, {'connected_gene': 'ENSG00000257515', 'score': 0.26}]
chr12 GH12I071661 71661475 71666229 2.31 [{'connected_gene': 'ZFC3H1', 'score': 550.77}, {'connected_gene': 'THAP2', 'score': 550.77}, {'connected_gene': 'TMEM19', 'score': 10.76}, {'connected_gene': 'ENSG00000257515', 'score': 7.4}]
chr12 GH12I071693 71693404 71695452 0.84 [{'connected_gene': 'ZFC3H1', 'score': 11.56}, {'connected_gene': 'ENSG00000257515', 'score': 8.56}, {'connected_gene': 'TMEM19', 'score': 5.2}, {'connected_gene': 'ENSG00000258064', 'score': 0.34}]
chr12 GH12I071671 71671721 71672352 1.03 [{'connected_gene': 'ENSG00000257515', 'score': 6.22}, {'connected_gene': 'TMEM19', 'score': 4.69}, {'connected_gene': 'ZFC3H1', 'score': 0.77}, {'connected_gene': 'ENSG00000258064', 'score': 0.77}, {'connected_gene': 'THAP2', 'score': 0.44}]
chr12 GH12I071709 71709677 71711350 0.83 [{'connected_gene': 'ENSG00000257515', 'score': 557.44}, {'connected_gene': 'TMEM19', 'score': 12.17}, {'connected_gene': 'ZFC3H1', 'score': 11.08}, {'connected_gene': 'RAB21', 'score': 0.26}]
chr12 GH12I071691 71691533 71692570 0.63 [{'connected_gene': 'ENSG00000257515', 'score': 7.79}, {'connected_gene': 'TMEM19', 'score': 0.44}, {'connected_gene': 'ENSG00000258064', 'score': 0.37}]