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
ENST00000366898 [[161768451, 161771243], [161781119, 161781237], [161807825, 161807909], [161969885, 161970035], [161990386, 161990448], [162206803, 162206940], [162394333, 162394449], [162475122, 162475206], [162622162, 162622284], [162683556, 162683797], [162864341, 162864505], [163148693, 163148803]] [[161771130, 161771243], [161781119, 161781237], [161807825, 161807909], [161969885, 161970035], [161990386, 161990448], [162206803, 162206940], [162394333, 162394449], [162475122, 162475206], [162622162, 162622284], [162683556, 162683797], [162864341, 162864505], [163148693, 163148700]]
ENST00000366897 [[161769670, 161771243], [161781119, 161781237], [161807825, 161807909], [161969885, 161970035], [161990386, 161990448], [162206803, 162206940], [162394333, 162394449], [162622162, 162622284], [162683556, 162683797], [162864341, 162864505], [163148693, 163148803]] [[161771130, 161771243], [161781119, 161781237], [161807825, 161807909], [161969885, 161970035], [161990386, 161990448], [162206803, 162206940], [162394333, 162394449], [162622162, 162622284], [162683556, 162683797], [162864341, 162864505], [163148693, 163148700]]
ENST00000366896 [[161769670, 161771243], [161781119, 161781237], [161807825, 161807909], [161969885, 161970035], [161990386, 161990448], [162206803, 162206940], [162394333, 162394449], [162864341, 162864505], [163148693, 163148803]] [[161771130, 161771243], [161781119, 161781237], [161807825, 161807909], [161969885, 161970035], [161990386, 161990448], [162206803, 162206940], [162394333, 162394449], [162864341, 162864505], [163148693, 163148700]]
ENST00000479615 [[161771130, 161771243], [161807825, 161807909], [162206803, 162206940], [162394333, 162394449], [162475122, 162475206], [162622162, 162622284], [162683556, 162683797], [163148693, 163148700]] [[161807886, 161807909], [162206803, 162206940], [162394333, 162394449], [162475122, 162475206], [162622162, 162622284], [162683556, 162683731]]
ENST00000366894 [[161771130, 161771243], [161781119, 161781237], [161807825, 161807909], [161969885, 161970035], [161990386, 161990448], [162206803, 162206940], [162394333, 162394449], [162475122, 162475206], [162622162, 162622284], [162864341, 162864505], [163148693, 163148700]] [[161771130, 161771243], [161781119, 161781237], [161807825, 161807909], [161969885, 161970035], [161990386, 161990448], [162206803, 162206940], [162394333, 162394449], [162475122, 162475167]]
ENST00000338468 [[161771130, 161771243], [161781119, 161781237], [161807825, 161807909], [161969885, 161970035], [161990386, 161990448], [162206803, 162206940], [162394333, 162394449], [162475122, 162475206], [162683556, 162683797], [162864341, 162864505], [163148693, 163148700]] [[161771130, 161771243], [161781119, 161781237], [161807825, 161807909], [161969885, 161970035], [161990386, 161990448], [162206803, 162206940], [162394333, 162394449], [162475122, 162475167]]
ENST00000366892 [[161966143, 161966469], [161969885, 161970035], [161990386, 161990448], [162206803, 162206940], [162394333, 162394449], [162475122, 162475206], [162622162, 162622284], [162683556, 162683797], [162864341, 162864505], [163148693, 163148796]] [[161966445, 161966469], [161969885, 161970035], [161990386, 161990448], [162206803, 162206940], [162394333, 162394449], [162475122, 162475206], [162622162, 162622284], [162683556, 162683797], [162864341, 162864505], [163148693, 163148700]]
Promoter
Chrom Start End Description
chr6 163148729 163148740 CAGE_peak_3_at_PARK2_5end
chr6 163148760 163148773 CAGE_peak_2_at_PARK2_5end
chr6 163148780 163148813 CAGE_peak_1_at_PARK2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I163148 163148828 163149061 0.51 [{'connected_gene': 'PACRG-AS3', 'score': 11.45}, {'connected_gene': 'QKI', 'score': 7.6}, {'connected_gene': 'PRKN', 'score': 3.68}, {'connected_gene': 'PACRG', 'score': 1.98}, {'connected_gene': 'PACRG-AS2', 'score': 0.16}]
chr6 GH06I162733 162733601 162733800 0.38 [{'connected_gene': 'PRKN', 'score': 0.44}, {'connected_gene': 'PACRG', 'score': 0.44}, {'connected_gene': 'TRE-TTC15-1', 'score': 0.22}]
chr6 GH06I162683 162683414 162684838 0.2 [{'connected_gene': 'PRKN', 'score': 0.26}, {'connected_gene': 'PACRG', 'score': 0.26}, {'connected_gene': 'KRT8P44', 'score': 0.13}]
chr6 GH06I162684 162684946 162686017 0.2 [{'connected_gene': 'PRKN', 'score': 0.26}, {'connected_gene': 'PACRG', 'score': 0.26}, {'connected_gene': 'KRT8P44', 'score': 0.13}]
chr6 GH06I162686 162686696 162686986 0.25 [{'connected_gene': 'PRKN', 'score': 3.36}, {'connected_gene': 'PACRG', 'score': 1.68}, {'connected_gene': 'KRT8P44', 'score': 0.13}]
chr6 GH06I162677 162677462 162677481 0.22 [{'connected_gene': 'PRKN', 'score': 3.98}, {'connected_gene': 'PACRG', 'score': 2.54}, {'connected_gene': 'KRT8P44', 'score': 0.14}]
chr6 GH06I162364 162364089 162364976 0.84 [{'connected_gene': 'PACRG', 'score': 4.61}, {'connected_gene': 'PRKN', 'score': 4.52}, {'connected_gene': 'LOC105369171', 'score': 0.22}, {'connected_gene': 'LOC105378097', 'score': 0.13}]
chr6 GH06I162810 162810001 162810111 0.22 [{'connected_gene': 'PACRG', 'score': 4.57}, {'connected_gene': 'PRKN', 'score': 2.15}, {'connected_gene': 'TRE-TTC15-1', 'score': 0.34}, {'connected_gene': 'GC06P162885', 'score': 0.18}]
chr6 GH06I162726 162726801 162729029 2.01 [{'connected_gene': 'PACRG', 'score': 576.35}, {'connected_gene': 'PRKN', 'score': 550.77}, {'connected_gene': 'TRE-TTC15-1', 'score': 0.21}]
chr6 GH06I162705 162705769 162706958 0.63 [{'connected_gene': 'PACRG', 'score': 37.42}, {'connected_gene': 'PRKN', 'score': 12.14}, {'connected_gene': 'KRT8P44', 'score': 0.12}]
chr6 GH06I162409 162409142 162411014 0.2 [{'connected_gene': 'PACRG', 'score': 4.92}, {'connected_gene': 'LOC105369171', 'score': 0.39}, {'connected_gene': 'LOC105378097', 'score': 0.1}, {'connected_gene': 'PRKN', 'score': 0.06}]
chr6 GH06I162543 162543329 162543478 0.2 [{'connected_gene': 'PACRG', 'score': 4.6}, {'connected_gene': 'KRT8P44', 'score': 0.34}, {'connected_gene': 'LOC105369171', 'score': 0.13}, {'connected_gene': 'PRKN', 'score': 0.09}]
chr6 GH06I162538 162538580 162539193 0.57 [{'connected_gene': 'PACRG', 'score': 5.18}, {'connected_gene': 'KRT8P44', 'score': 0.31}, {'connected_gene': 'LOC105369171', 'score': 0.13}, {'connected_gene': 'PRKN', 'score': 0.09}]
chr6 GH06I162290 162290328 162291614 0.2 [{'connected_gene': 'LOC105378097', 'score': 0.22}, {'connected_gene': 'LOC105369171', 'score': 0.12}, {'connected_gene': 'PRKN', 'score': 0.05}]
chr6 GH06I162267 162267749 162267898 0.2 [{'connected_gene': 'LOC105378097', 'score': 0.29}, {'connected_gene': 'LOC105369171', 'score': 0.1}, {'connected_gene': 'PRKN', 'score': 0.05}]
chr6 GH06I162293 162293649 162294468 0.31 [{'connected_gene': 'LOC105378097', 'score': 0.22}, {'connected_gene': 'LOC105369171', 'score': 0.13}, {'connected_gene': 'PRKN', 'score': 0.04}]
chr6 GH06I162363 162363889 162364038 0.46 [{'connected_gene': 'LOC105369171', 'score': 0.22}, {'connected_gene': 'LOC105378097', 'score': 0.13}, {'connected_gene': 'PRKN', 'score': 0.05}]
chr6 GH06I162390 162390452 162392542 0.49 [{'connected_gene': 'LOC105369171', 'score': 0.29}, {'connected_gene': 'LOC105378097', 'score': 0.1}, {'connected_gene': 'PRKN', 'score': 0.05}]
chr6 GH06I162344 162344024 162346071 0.31 [{'connected_gene': 'LOC105369171', 'score': 0.18}, {'connected_gene': 'LOC105378097', 'score': 0.14}, {'connected_gene': 'PRKN', 'score': 0.05}]
chr6 GH06I162416 162416612 162417758 0.46 [{'connected_gene': 'LOC105369171', 'score': 0.44}, {'connected_gene': 'LOC105378097', 'score': 0.09}, {'connected_gene': 'PRKN', 'score': 0.06}]
chr6 GH06I162477 162477723 162478875 0.46 [{'connected_gene': 'LOC105369171', 'score': 0.22}, {'connected_gene': 'KRT8P44', 'score': 0.16}, {'connected_gene': 'PRKN', 'score': 0.07}]
chr6 GH06I162448 162448087 162448204 0.22 [{'connected_gene': 'LOC105369171', 'score': 0.31}, {'connected_gene': 'KRT8P44', 'score': 0.13}, {'connected_gene': 'PRKN', 'score': 0.06}]
chr6 GH06I162442 162442809 162442938 0.43 [{'connected_gene': 'LOC105369171', 'score': 0.34}, {'connected_gene': 'KRT8P44', 'score': 0.13}, {'connected_gene': 'PRKN', 'score': 0.06}]
chr6 GH06I162625 162625810 162626668 0.31 [{'connected_gene': 'KRT8P44', 'score': 0.22}, {'connected_gene': 'PRKN', 'score': 0.15}, {'connected_gene': 'PACRG', 'score': 0.15}]
chr6 GH06I162524 162524860 162525715 0.2 [{'connected_gene': 'KRT8P44', 'score': 0.26}, {'connected_gene': 'LOC105369171', 'score': 0.15}, {'connected_gene': 'PRKN', 'score': 0.08}]
chr6 GH06I162090 162090508 162091334 0.2 [{'connected_gene': 'PIR50957', 'score': 0.17}, {'connected_gene': 'GC06P161835', 'score': 0.07}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I162099 162099091 162100778 0.92 [{'connected_gene': 'PIR50957', 'score': 0.18}, {'connected_gene': 'GC06P161835', 'score': 0.07}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I162059 162057246 162057366 0.44 [{'connected_gene': 'PIR50957', 'score': 0.13}, {'connected_gene': 'GC06P161835', 'score': 0.07}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I161917 161917749 161917898 0.46 [{'connected_gene': 'GC06P161835', 'score': 0.18}, {'connected_gene': 'PIR50957', 'score': 0.07}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I161922 161922180 161923558 1.06 [{'connected_gene': 'GC06P161835', 'score': 0.17}, {'connected_gene': 'PIR50957', 'score': 0.07}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I162156 162156279 162156447 0.22 [{'connected_gene': 'PIR50957', 'score': 0.34}, {'connected_gene': 'GC06P161835', 'score': 0.05}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I161923 161923933 161924054 0.2 [{'connected_gene': 'GC06P161835', 'score': 0.17}, {'connected_gene': 'PIR50957', 'score': 0.07}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I162150 162150894 162151748 0.67 [{'connected_gene': 'PIR50957', 'score': 0.31}, {'connected_gene': 'GC06P161835', 'score': 0.06}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I162106 162106746 162106896 0.22 [{'connected_gene': 'PIR50957', 'score': 0.19}, {'connected_gene': 'GC06P161835', 'score': 0.06}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I161963 161963782 161964139 0.31 [{'connected_gene': 'GC06P161835', 'score': 0.13}, {'connected_gene': 'PIR50957', 'score': 0.08}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I162119 162119373 162119848 0.71 [{'connected_gene': 'PIR50957', 'score': 0.22}, {'connected_gene': 'GC06P161835', 'score': 0.06}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I162056 162056001 162056200 0.57 [{'connected_gene': 'PIR50957', 'score': 0.13}, {'connected_gene': 'GC06P161835', 'score': 0.07}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I162154 162154163 162154289 0.27 [{'connected_gene': 'PIR50957', 'score': 0.34}, {'connected_gene': 'GC06P161835', 'score': 0.06}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I161748 161748889 161749038 0.49 [{'connected_gene': 'GC06P161685', 'score': 0.21}, {'connected_gene': 'GC06P161835', 'score': 0.17}, {'connected_gene': 'PRKN', 'score': 0.02}]
chr6 GH06I162057 162056849 162057058 0.38 [{'connected_gene': 'PIR50957', 'score': 0.13}, {'connected_gene': 'GC06P161835', 'score': 0.07}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I161918 161918349 161918498 0.54 [{'connected_gene': 'GC06P161835', 'score': 0.18}, {'connected_gene': 'PIR50957', 'score': 0.07}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I161908 161908871 161909126 0.22 [{'connected_gene': 'GC06P161835', 'score': 0.19}, {'connected_gene': 'PIR50957', 'score': 0.06}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I162058 162058277 162059138 0.92 [{'connected_gene': 'PIR50957', 'score': 0.13}, {'connected_gene': 'GC06P161835', 'score': 0.07}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I161838 161838789 161839038 0.62 [{'connected_gene': 'GC06P161835', 'score': 0.77}, {'connected_gene': 'PIR50957', 'score': 0.05}, {'connected_gene': 'PRKN', 'score': 0.02}]
chr6 GH06I161828 161828221 161829972 0.31 [{'connected_gene': 'GC06P161835', 'score': 0.44}, {'connected_gene': 'GC06P161685', 'score': 0.11}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I162109 162109635 162110023 0.28 [{'connected_gene': 'PIR50957', 'score': 0.2}, {'connected_gene': 'GC06P161835', 'score': 0.06}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I161773 161773869 161774812 0.57 [{'connected_gene': 'GC06P161835', 'score': 0.21}, {'connected_gene': 'GC06P161685', 'score': 0.17}, {'connected_gene': 'PRKN', 'score': 0.02}]
chr6 GH06I162202 162202754 162203093 0.22 [{'connected_gene': 'PIR50957', 'score': 0.34}, {'connected_gene': 'LOC105378097', 'score': 0.29}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I162181 162181244 162181379 0.26 [{'connected_gene': 'PIR50957', 'score': 0.77}, {'connected_gene': 'LOC105378097', 'score': 0.23}, {'connected_gene': 'PRKN', 'score': 0.03}]
chr6 GH06I162182 162181713 162182268 0.86 [{'connected_gene': 'PIR50957', 'score': 0.77}, {'connected_gene': 'LOC105378097', 'score': 0.23}, {'connected_gene': 'PRKN', 'score': 0.03}]