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
ENST00000261326 [[33767481, 33767644], [33775219, 33775309], [33778652, 33778719], [33779645, 33780287], [33783075, 33783152], [33785039, 33785239], [33793328, 33793445], [33795478, 33795940], [33800017, 33800180], [33828884, 33828963], [33831121, 33831246], [33836930, 33837036], [33839999, 33840138], [33846711, 33846816], [33848495, 33852120]] [[33767502, 33767644], [33775219, 33775309], [33778652, 33778719], [33779645, 33780287], [33783075, 33783152], [33785039, 33785239], [33793328, 33793445], [33795478, 33795940], [33800017, 33800180], [33828884, 33828963], [33831121, 33831246], [33836930, 33837036], [33839999, 33840138], [33846711, 33846816], [33848495, 33848648]]
ENST00000588132 [[33836809, 33837036], [33839999, 33840138], [33846711, 33846777]] None
NM_017947 [[33767479, 33767644], [33775219, 33775309], [33778652, 33778719], [33779645, 33780287], [33783075, 33783152], [33785039, 33785239], [33793328, 33793445], [33795478, 33795940], [33800017, 33800180], [33828884, 33828963], [33831121, 33831246], [33836930, 33837036], [33839999, 33840138], [33846711, 33846816], [33848495, 33848685]] [[33767502, 33767644], [33775219, 33775309], [33778652, 33778719], [33779645, 33780287], [33783075, 33783152], [33785039, 33785239], [33793328, 33793445], [33795478, 33795940], [33800017, 33800180], [33828884, 33828963], [33831121, 33831246], [33836930, 33837036], [33839999, 33840138], [33846711, 33846816], [33848495, 33848648]]
Promoter
Chrom Start End Description
chr18 33767446 33767471 CAGE_peak_2_at_MOCOS_5end
chr18 33767473 33767498 CAGE_peak_1_at_MOCOS_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I036075 36075478 36076732 1.06 [{'connected_gene': 'ZNF397', 'score': 19.42}, {'connected_gene': 'ELP2', 'score': 13.71}, {'connected_gene': 'RPRD1A', 'score': 13.25}, {'connected_gene': 'ENSG00000268573', 'score': 12.67}, {'connected_gene': 'MOCOS', 'score': 10.74}, {'connected_gene': 'FHOD3', 'score': 10.42}, {'connected_gene': 'ENSG00000267583', 'score': 10.06}, {'connected_gene': 'C18orf21', 'score': 9.98}, {'connected_gene': 'GC18P036078', 'score': 0.77}]
chr18 GH18I036017 36017601 36018001 0.91 [{'connected_gene': 'C18orf21', 'score': 11.16}, {'connected_gene': 'FHOD3', 'score': 10.65}, {'connected_gene': 'MOCOS', 'score': 10.57}, {'connected_gene': 'GC18M035972', 'score': 0.26}, {'connected_gene': 'RPRD1A', 'score': 0.25}]
chr8 GH08I056173 56173257 56174502 0.49 [{'connected_gene': 'CHCHD7', 'score': 11.6}, {'connected_gene': 'PLAG1', 'score': 11.6}, {'connected_gene': 'MOS', 'score': 11.24}, {'connected_gene': 'GC08M056160', 'score': 0.44}, {'connected_gene': 'GC08M056122', 'score': 0.23}, {'connected_gene': 'ENSG00000221093', 'score': 0.23}]
chr8 GH08I056168 56167992 56168433 0.4 [{'connected_gene': 'CHCHD7', 'score': 10.84}, {'connected_gene': 'PLAG1', 'score': 10.84}, {'connected_gene': 'MOS', 'score': 10.78}, {'connected_gene': 'GC08M056160', 'score': 0.39}, {'connected_gene': 'GC08M056122', 'score': 0.25}, {'connected_gene': 'ENSG00000221093', 'score': 0.25}]
chr18 GH18I036511 36511176 36512734 0.77 [{'connected_gene': 'KIAA1328', 'score': 10.41}, {'connected_gene': 'MOCOS', 'score': 4.76}, {'connected_gene': 'GC18P036374', 'score': 0.12}, {'connected_gene': 'LOC105372071', 'score': 0.1}, {'connected_gene': 'FHOD3', 'score': 0.08}]
chr18 GH18I036111 36111685 36113228 0.38 [{'connected_gene': 'ELP2', 'score': 15.21}, {'connected_gene': 'MOCOS', 'score': 11.03}, {'connected_gene': 'FHOD3', 'score': 10.12}, {'connected_gene': 'LOC101927809', 'score': 5.5}, {'connected_gene': 'SLC39A6', 'score': 0.37}, {'connected_gene': 'GC18M036078', 'score': 0.29}]
chr18 GH18I036149 36149840 36154767 0.83 [{'connected_gene': 'ELP2', 'score': 33.35}, {'connected_gene': 'MOCOS', 'score': 20.93}, {'connected_gene': 'LOC791126', 'score': 4.23}, {'connected_gene': 'PIR50550', 'score': 0.77}, {'connected_gene': 'SLC39A6', 'score': 0.34}]
chr18 GH18I036178 36178052 36181750 1.09 [{'connected_gene': 'ELP2', 'score': 37.05}, {'connected_gene': 'MOCOS', 'score': 10.46}, {'connected_gene': 'LOC791126', 'score': 4.35}, {'connected_gene': 'GC18P036175', 'score': 0.77}, {'connected_gene': 'LOC101927809', 'score': 0.44}]
chr18 GH18I036121 36121478 36121627 0.4 [{'connected_gene': 'ELP2', 'score': 15.28}, {'connected_gene': 'MOCOS', 'score': 9.37}, {'connected_gene': 'SLC39A6', 'score': 0.44}, {'connected_gene': 'GC18M036078', 'score': 0.26}]
chr18 GH18I036127 36127934 36133133 2.31 [{'connected_gene': 'ELP2', 'score': 588.47}, {'connected_gene': 'SLC39A6', 'score': 550.77}, {'connected_gene': 'ENSG00000268573', 'score': 42.41}, {'connected_gene': 'ZNF397', 'score': 24.3}, {'connected_gene': 'KIAA1328', 'score': 11.6}, {'connected_gene': 'LOC101927809', 'score': 10.84}, {'connected_gene': 'MOCOS', 'score': 9.42}, {'connected_gene': 'LOC791126', 'score': 4.2}, {'connected_gene': 'PIR50550', 'score': 0.31}]
chr18 GH18I036041 36041790 36041849 0.5 [{'connected_gene': 'RPRD1A', 'score': 550.31}, {'connected_gene': 'FHOD3', 'score': 10.51}, {'connected_gene': 'MOCOS', 'score': 10.11}, {'connected_gene': 'GC18M035972', 'score': 0.2}]
chr18 GH18I036096 36096149 36098752 0.71 [{'connected_gene': 'RPRD1A', 'score': 13.19}, {'connected_gene': 'MOCOS', 'score': 10.99}, {'connected_gene': 'FHOD3', 'score': 10.78}, {'connected_gene': 'ELP2', 'score': 6.98}, {'connected_gene': 'GC18M036078', 'score': 0.37}]
chr18 GH18I036098 36098855 36100743 0.62 [{'connected_gene': 'RPRD1A', 'score': 13.07}, {'connected_gene': 'MOCOS', 'score': 11.0}, {'connected_gene': 'FHOD3', 'score': 10.78}, {'connected_gene': 'LOC105372066', 'score': 10.32}, {'connected_gene': 'ELP2', 'score': 5.58}, {'connected_gene': 'GC18M036078', 'score': 0.34}]
chr18 GH18I036109 36109303 36110649 0.56 [{'connected_gene': 'MOCOS', 'score': 19.36}, {'connected_gene': 'FHOD3', 'score': 10.12}, {'connected_gene': 'SLC39A6', 'score': 0.37}, {'connected_gene': 'ELP2', 'score': 0.37}, {'connected_gene': 'GC18M036078', 'score': 0.29}]
chr18 GH18I036110 36110744 36111491 0.2 [{'connected_gene': 'MOCOS', 'score': 20.14}, {'connected_gene': 'FHOD3', 'score': 10.12}, {'connected_gene': 'SLC39A6', 'score': 0.37}, {'connected_gene': 'ELP2', 'score': 0.37}, {'connected_gene': 'GC18M036078', 'score': 0.29}]
chr18 GH18I036101 36101072 36102204 0.49 [{'connected_gene': 'MOCOS', 'score': 11.0}, {'connected_gene': 'FHOD3', 'score': 10.78}, {'connected_gene': 'LOC105372066', 'score': 10.35}, {'connected_gene': 'RPRD1A', 'score': 6.63}, {'connected_gene': 'GC18M036078', 'score': 0.34}, {'connected_gene': 'ELP2', 'score': 0.31}]
chr18 GH18I036307 36307173 36311229 1.04 [{'connected_gene': 'MOCOS', 'score': 10.57}, {'connected_gene': 'FHOD3', 'score': 0.39}, {'connected_gene': 'GC18P036374', 'score': 0.2}]
chr18 GH18I036305 36305442 36306833 0.38 [{'connected_gene': 'MOCOS', 'score': 10.57}, {'connected_gene': 'FHOD3', 'score': 0.44}, {'connected_gene': 'GC18P036374', 'score': 0.2}]
chr18 GH18I036302 36302780 36304131 0.46 [{'connected_gene': 'MOCOS', 'score': 10.57}, {'connected_gene': 'C18orf21', 'score': 9.66}, {'connected_gene': 'FHOD3', 'score': 0.44}, {'connected_gene': 'GC18P036374', 'score': 0.19}]
chr8 GH08I056167 56167222 56167371 0.31 [{'connected_gene': 'MOS', 'score': 10.88}, {'connected_gene': 'CHCHD7', 'score': 10.84}, {'connected_gene': 'PLAG1', 'score': 10.84}, {'connected_gene': 'GC08M056160', 'score': 0.37}, {'connected_gene': 'GC08M056122', 'score': 0.25}, {'connected_gene': 'ENSG00000221093', 'score': 0.25}]
chr18 GH18I036106 36106913 36108205 0.38 [{'connected_gene': 'MOCOS', 'score': 11.1}, {'connected_gene': 'ELP2', 'score': 0.34}, {'connected_gene': 'GC18M036078', 'score': 0.31}]
chr18 GH18I036216 36216751 36218623 0.54 [{'connected_gene': 'MOCOS', 'score': 12.68}, {'connected_gene': 'ENSG00000274849', 'score': 0.31}, {'connected_gene': 'RNU4-3P', 'score': 0.25}]
chr18 GH18I036212 36212598 36212747 0.52 [{'connected_gene': 'MOCOS', 'score': 6.74}, {'connected_gene': 'ENSG00000274849', 'score': 0.34}, {'connected_gene': 'RNU4-3P', 'score': 0.23}]
chr8 GH08I056061 56060400 56060601 0.72 [{'connected_gene': 'MOS', 'score': 10.01}, {'connected_gene': 'PSMC6P1', 'score': 0.44}, {'connected_gene': 'PIR52236', 'score': 0.39}, {'connected_gene': 'GC08P056003', 'score': 0.22}]
chr18 GH18I035671 35671577 35673516 0.54 [{'connected_gene': 'MOCOS', 'score': 9.66}, {'connected_gene': 'LOC105372065', 'score': 0.44}, {'connected_gene': 'ENSG00000266965', 'score': 0.18}, {'connected_gene': 'GALNT1', 'score': 0.16}]
chr18 GH18I036186 36186558 36189651 2.17 [{'connected_gene': 'MOCOS', 'score': 564.51}, {'connected_gene': 'ENSG00000274849', 'score': 550.77}, {'connected_gene': 'LOC101927809', 'score': 550.77}, {'connected_gene': 'ELP2', 'score': 26.48}, {'connected_gene': 'LOC791126', 'score': 4.28}]
chr8 GH08I056093 56093742 56093911 0.67 [{'connected_gene': 'MOS', 'score': 11.56}, {'connected_gene': 'NPM1P21', 'score': 0.44}, {'connected_gene': 'CERNA3', 'score': 0.37}, {'connected_gene': 'GC08P056003', 'score': 0.16}]
chr8 GH08I056113 56113928 56113987 0.61 [{'connected_gene': 'MOS', 'score': 550.77}, {'connected_gene': 'NPM1P21', 'score': 0.39}, {'connected_gene': 'GC08P056003', 'score': 0.14}]
chr18 GH18I036265 36265001 36265176 0.61 [{'connected_gene': 'RNU4-3P', 'score': 550.77}, {'connected_gene': 'GC18P036265', 'score': 550.77}, {'connected_gene': 'FHOD3', 'score': 11.24}, {'connected_gene': 'LOC791126', 'score': 0.44}, {'connected_gene': 'MOCOS', 'score': 0.18}]
chr18 GH18I036094 36094224 36095572 0.46 [{'connected_gene': 'ENSG00000268573', 'score': 16.13}, {'connected_gene': 'ZNF397', 'score': 12.09}, {'connected_gene': 'FHOD3', 'score': 10.68}, {'connected_gene': 'MOCOS', 'score': 10.63}, {'connected_gene': 'LOC105372066', 'score': 10.21}, {'connected_gene': 'C18orf21', 'score': 10.0}, {'connected_gene': 'ELP2', 'score': 6.93}, {'connected_gene': 'RPRD1A', 'score': 5.08}, {'connected_gene': 'GC18M036078', 'score': 0.37}]
chr18 GH18I036175 36175015 36177742 1.13 [{'connected_gene': 'GC18P036175', 'score': 550.77}, {'connected_gene': 'ELP2', 'score': 33.17}, {'connected_gene': 'MOCOS', 'score': 11.22}, {'connected_gene': 'LOC101927809', 'score': 0.39}]
chr18 GH18I036211 36211873 36212127 0.2 [{'connected_gene': 'ENSG00000274849', 'score': 0.34}, {'connected_gene': 'MOCOS', 'score': 0.34}, {'connected_gene': 'RNU4-3P', 'score': 0.23}]
chr18 GH18I036200 36200418 36200567 0.86 [{'connected_gene': 'ENSG00000274849', 'score': 0.39}, {'connected_gene': 'MOCOS', 'score': 0.39}, {'connected_gene': 'RNU4-3P', 'score': 0.21}]