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
ENST00000285046 [[14860468, 14863103], [14905634, 14905767], [14922078, 14922137], [14922248, 14922279], [14939015, 14939176], [14939445, 14939602], [14940245, 14940333], [14941909, 14941960], [14942509, 14942568], [14949146, 14949218], [14952367, 14952436], [14958755, 14958839], [14960260, 14960340], [14963424, 14963524], [14963917, 14964055], [14964552, 14964682], [14965514, 14965645], [14967576, 14967705], [14974083, 14974238], [14974637, 14975895]] [[14860578, 14863103], [14905634, 14905767], [14922078, 14922137], [14922248, 14922279], [14939015, 14939176], [14939445, 14939602], [14940245, 14940333], [14941909, 14941960], [14942509, 14942568], [14949146, 14949218], [14952367, 14952436], [14958755, 14958839], [14960260, 14960340], [14963424, 14963524], [14963917, 14964055], [14964552, 14964682], [14965514, 14965645], [14967576, 14967705], [14974083, 14974238], [14974637, 14974674]]
ENST00000543601 [[14860830, 14863103], [14905634, 14905767], [14922078, 14922137], [14922248, 14922279], [14939015, 14939176], [14939445, 14939602], [14940245, 14940333], [14941909, 14941960], [14942509, 14942568], [14949146, 14949218], [14952367, 14952436], [14958755, 14958839], [14960260, 14960340], [14963424, 14963524], [14963917, 14964055], [14964552, 14964682], [14965514, 14965645], [14974083, 14974238], [14974637, 14975774]] [[14861301, 14863103], [14905634, 14905767], [14922078, 14922137], [14922248, 14922279], [14939015, 14939176], [14939445, 14939602], [14940245, 14940333], [14941909, 14941960], [14942509, 14942568], [14949146, 14949218], [14952367, 14952436], [14958755, 14958839], [14960260, 14960340], [14963424, 14963524], [14963917, 14964055], [14964552, 14964682], [14965514, 14965645], [14974083, 14974238], [14974637, 14974674]]
ENST00000468662 [[14923811, 14923861], [14939015, 14939176], [14939445, 14939602], [14940245, 14940333], [14941909, 14941960], [14942509, 14942568], [14949146, 14949218], [14952367, 14952436], [14958755, 14958839], [14960260, 14960340], [14963424, 14963524], [14963917, 14964055], [14964552, 14964682], [14965514, 14965645], [14967576, 14967705], [14974083, 14974238], [14974637, 14974945]] None
ENST00000476851 [[14938468, 14938753], [14939015, 14939176], [14939445, 14939602], [14940245, 14940333], [14941909, 14941960], [14942509, 14942568], [14949146, 14949218], [14952367, 14952436], [14958755, 14958839], [14960260, 14960340], [14963424, 14963524], [14963917, 14964055], [14964552, 14964682], [14965514, 14965645], [14967576, 14967705], [14974083, 14974238], [14974637, 14974946]] None
ENST00000457774 [[14862938, 14863103], [14905634, 14905767], [14939015, 14939176], [14939445, 14939602], [14940245, 14940333], [14941909, 14941960]] [[14862938, 14863103], [14905634, 14905767], [14939015, 14939176], [14939445, 14939602], [14940245, 14940333], [14941909, 14941960]]
ENST00000487605 [[14972269, 14974238], [14974637, 14974945]] None
NM_001320276 [[14860468, 14863103], [14905634, 14905767], [14922078, 14922137], [14922248, 14922279], [14939015, 14939176], [14939445, 14939602], [14940245, 14940333], [14941909, 14941960], [14942509, 14942568], [14949146, 14949218], [14952367, 14952436], [14958755, 14958839], [14960260, 14960340], [14963424, 14963524], [14963917, 14964055], [14964552, 14964682], [14965514, 14965645], [14974083, 14974238], [14974637, 14976072]] [[14860578, 14863103], [14905634, 14905767], [14922078, 14922137], [14922248, 14922279], [14939015, 14939176], [14939445, 14939602], [14940245, 14940333], [14941909, 14941960], [14942509, 14942568], [14949146, 14949218], [14952367, 14952436], [14958755, 14958839], [14960260, 14960340], [14963424, 14963524], [14963917, 14964055], [14964552, 14964682], [14965514, 14965645], [14974083, 14974238], [14974637, 14974674]]
NM_152536 [[14860468, 14863103], [14905634, 14905767], [14922078, 14922137], [14922248, 14922279], [14939015, 14939176], [14939445, 14939602], [14940245, 14940333], [14941909, 14941960], [14942509, 14942568], [14949146, 14949218], [14952367, 14952436], [14958755, 14958839], [14960260, 14960340], [14963424, 14963524], [14963917, 14964055], [14964552, 14964682], [14965514, 14965645], [14967576, 14967705], [14974083, 14974238], [14974637, 14976072]] [[14860578, 14863103], [14905634, 14905767], [14922078, 14922137], [14922248, 14922279], [14939015, 14939176], [14939445, 14939602], [14940245, 14940333], [14941909, 14941960], [14942509, 14942568], [14949146, 14949218], [14952367, 14952436], [14958755, 14958839], [14960260, 14960340], [14963424, 14963524], [14963917, 14964055], [14964552, 14964682], [14965514, 14965645], [14967576, 14967705], [14974083, 14974238], [14974637, 14974674]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I014828 14828826 14828841 0.22 [{'connected_gene': 'C3orf20', 'score': 10.56}, {'connected_gene': 'GRIP2', 'score': 7.24}, {'connected_gene': 'PIR49239', 'score': 0.44}, {'connected_gene': 'FGD5', 'score': 0.37}, {'connected_gene': 'LOC105376963', 'score': 0.16}]
chr3 GH03I014884 14884081 14884820 0.43 [{'connected_gene': 'C3orf20', 'score': 10.67}, {'connected_gene': 'CCDC174', 'score': 9.91}, {'connected_gene': 'LOC105376963', 'score': 0.28}, {'connected_gene': 'PIR49239', 'score': 0.21}, {'connected_gene': 'FGD5', 'score': 0.19}]
chr3 GH03I014933 14933101 14937693 0.54 [{'connected_gene': 'C3orf20', 'score': 10.47}, {'connected_gene': 'CCDC174', 'score': 10.17}, {'connected_gene': 'FGD5-AS1', 'score': 10.16}, {'connected_gene': 'ENSG00000235629', 'score': 9.76}, {'connected_gene': 'COLQ', 'score': 4.67}, {'connected_gene': 'RPS3AP53', 'score': 4.67}, {'connected_gene': 'PIR33304', 'score': 0.44}, {'connected_gene': 'PIR49010', 'score': 0.44}, {'connected_gene': 'FGD5', 'score': 0.13}]
chr3 GH03I014831 14831297 14834475 0.62 [{'connected_gene': 'C3orf20', 'score': 10.55}, {'connected_gene': 'PIR49239', 'score': 0.39}, {'connected_gene': 'FGD5', 'score': 0.34}, {'connected_gene': 'LOC105376963', 'score': 0.17}]
chr3 GH03I014822 14822801 14823999 0.83 [{'connected_gene': 'C3orf20', 'score': 11.24}, {'connected_gene': 'PIR49239', 'score': 0.77}, {'connected_gene': 'FGD5', 'score': 0.39}, {'connected_gene': 'LOC105376963', 'score': 0.15}]
chr3 GH03I014841 14841572 14843739 0.38 [{'connected_gene': 'C3orf20', 'score': 10.5}, {'connected_gene': 'FGD5-AS1', 'score': 4.53}, {'connected_gene': 'PIR49239', 'score': 0.34}, {'connected_gene': 'FGD5', 'score': 0.29}, {'connected_gene': 'LOC105376963', 'score': 0.18}]
chr3 GH03I014806 14806540 14807001 1.05 [{'connected_gene': 'SLC6A6', 'score': 1.25}, {'connected_gene': 'FGD5', 'score': 0.77}, {'connected_gene': 'LINC02011', 'score': 0.77}, {'connected_gene': 'PIR61652', 'score': 0.31}]
chr3 GH03I015097 15097647 15100022 2.14 [{'connected_gene': 'RBSN', 'score': 550.77}, {'connected_gene': 'GC03M015143', 'score': 550.77}, {'connected_gene': 'NR2C2', 'score': 66.49}, {'connected_gene': 'CCDC174', 'score': 58.67}, {'connected_gene': 'SH3BP5-AS1', 'score': 50.03}, {'connected_gene': 'CAPN7', 'score': 48.58}, {'connected_gene': 'ENSG00000228242', 'score': 38.11}, {'connected_gene': 'XPC', 'score': 32.56}, {'connected_gene': 'MRPS25', 'score': 12.36}, {'connected_gene': 'HACL1', 'score': 10.72}, {'connected_gene': 'FGD5', 'score': 9.94}, {'connected_gene': 'EAF1-AS1', 'score': 9.88}, {'connected_gene': 'TMEM43', 'score': 9.7}, {'connected_gene': 'FGD5-AS1', 'score': 6.97}]
chr3 GH03I013839 13839143 13840530 0.49 [{'connected_gene': 'CCDC174', 'score': 16.65}, {'connected_gene': 'TMEM43', 'score': 12.53}, {'connected_gene': 'XPC', 'score': 12.29}, {'connected_gene': 'WNT7A', 'score': 11.65}, {'connected_gene': 'FGD5', 'score': 10.48}, {'connected_gene': 'GC03M014472', 'score': 0.39}]
chr3 GH03I014851 14851930 14854247 0.86 [{'connected_gene': 'CCDC174', 'score': 49.24}, {'connected_gene': 'SH3BP5-AS1', 'score': 47.74}, {'connected_gene': 'XPC', 'score': 39.23}, {'connected_gene': 'CAPN7', 'score': 32.98}, {'connected_gene': 'ENSG00000228242', 'score': 31.58}, {'connected_gene': 'NR2C2', 'score': 26.33}, {'connected_gene': 'HACL1', 'score': 11.09}, {'connected_gene': 'PIR49239', 'score': 0.29}, {'connected_gene': 'FGD5', 'score': 0.26}, {'connected_gene': 'LOC105376963', 'score': 0.2}]
chr3 GH03I014885 14885022 14885600 0.89 [{'connected_gene': 'FGD5', 'score': 12.43}, {'connected_gene': 'C3orf20', 'score': 10.67}, {'connected_gene': 'CCDC174', 'score': 10.07}, {'connected_gene': 'ENSG00000235629', 'score': 10.06}, {'connected_gene': 'FGD5-AS1', 'score': 5.02}, {'connected_gene': 'LOC105376963', 'score': 0.28}, {'connected_gene': 'PIR49239', 'score': 0.21}]
chr3 GH03I014783 14783359 14786574 0.57 [{'connected_gene': 'FGD5', 'score': 12.74}, {'connected_gene': 'C3orf20', 'score': 11.92}, {'connected_gene': 'ENSG00000235629', 'score': 10.38}, {'connected_gene': 'CCDC174', 'score': 10.38}, {'connected_gene': 'PIR61652', 'score': 0.44}]
chr3 GH03I014809 14809914 14812742 1.46 [{'connected_gene': 'FGD5', 'score': 550.77}, {'connected_gene': 'LINC02011', 'score': 550.77}]
chr3 GH03I014802 14802146 14805488 1.4 [{'connected_gene': 'FGD5', 'score': 0.44}, {'connected_gene': 'LINC02011', 'score': 0.44}, {'connected_gene': 'PIR61652', 'score': 0.31}]
chr3 GH03I014846 14846900 14848579 1.24 [{'connected_gene': 'FGD5', 'score': 12.93}, {'connected_gene': 'FGD5-AS1', 'score': 4.53}, {'connected_gene': 'PIR49239', 'score': 0.31}, {'connected_gene': 'LOC105376963', 'score': 0.19}]
chr3 GH03I014889 14889902 14892793 0.52 [{'connected_gene': 'LOC105376963', 'score': 0.29}, {'connected_gene': 'PIR49239', 'score': 0.19}, {'connected_gene': 'FGD5', 'score': 0.18}]
chr3 GH03I014874 14874315 14876488 0.2 [{'connected_gene': 'LOC105376963', 'score': 0.25}, {'connected_gene': 'PIR49239', 'score': 0.23}, {'connected_gene': 'FGD5', 'score': 0.21}]
chr3 GH03I014912 14912918 14914996 0.6 [{'connected_gene': 'LOC105376963', 'score': 0.44}, {'connected_gene': 'PIR49239', 'score': 0.16}, {'connected_gene': 'FGD5', 'score': 0.15}]
chr3 GH03I014896 14896877 14899800 0.52 [{'connected_gene': 'LOC105376963', 'score': 0.34}, {'connected_gene': 'PIR49239', 'score': 0.18}, {'connected_gene': 'FGD5', 'score': 0.17}]
chr3 GH03I014915 14915054 14916990 0.63 [{'connected_gene': 'LOC105376963', 'score': 0.44}, {'connected_gene': 'PIR49239', 'score': 0.15}, {'connected_gene': 'FGD5', 'score': 0.14}]
chr3 GH03I014888 14888090 14889776 0.2 [{'connected_gene': 'LOC105376963', 'score': 0.29}, {'connected_gene': 'PIR49239', 'score': 0.2}, {'connected_gene': 'FGD5', 'score': 0.18}]
chr3 GH03I014876 14876696 14877870 1.19 [{'connected_gene': 'LOC105376963', 'score': 0.25}, {'connected_gene': 'PIR49239', 'score': 0.22}, {'connected_gene': 'FGD5', 'score': 0.2}]
chr3 GH03I014880 14880236 14882524 0.52 [{'connected_gene': 'LOC105376963', 'score': 0.26}, {'connected_gene': 'PIR49239', 'score': 0.21}, {'connected_gene': 'FGD5', 'score': 0.19}]
chr3 GH03I014879 14879634 14879783 0.72 [{'connected_gene': 'LOC105376963', 'score': 0.26}, {'connected_gene': 'PIR49239', 'score': 0.22}, {'connected_gene': 'FGD5', 'score': 0.2}]
chr3 GH03I014921 14921001 14921600 1.32 [{'connected_gene': 'LOC105376963', 'score': 550.77}, {'connected_gene': 'FGD5-AS1', 'score': 6.31}, {'connected_gene': 'PIR49239', 'score': 0.15}, {'connected_gene': 'FGD5', 'score': 0.14}]
chr3 GH03I014807 14807246 14808879 0.57 [{'connected_gene': 'SH3BP5-AS1', 'score': 18.78}, {'connected_gene': 'CCDC174', 'score': 18.71}, {'connected_gene': 'XPC', 'score': 17.93}, {'connected_gene': 'ENSG00000228242', 'score': 15.8}, {'connected_gene': 'CAPN7', 'score': 14.27}, {'connected_gene': 'TMEM43', 'score': 10.51}, {'connected_gene': 'NR2C2', 'score': 10.3}, {'connected_gene': 'LINC02011', 'score': 0.77}, {'connected_gene': 'FGD5', 'score': 0.77}, {'connected_gene': 'PIR61652', 'score': 0.31}]
chr3 GH03I014450 14450821 14455775 1.63 [{'connected_gene': 'SH3BP5-AS1', 'score': 30.54}, {'connected_gene': 'CCDC174', 'score': 28.37}, {'connected_gene': 'SLC6A6', 'score': 26.36}, {'connected_gene': 'CAPN7', 'score': 25.99}, {'connected_gene': 'NR2C2', 'score': 25.73}, {'connected_gene': 'ENSG00000228242', 'score': 22.03}, {'connected_gene': 'XPC', 'score': 20.81}, {'connected_gene': 'METTL6', 'score': 10.22}, {'connected_gene': 'FGD5', 'score': 9.93}, {'connected_gene': 'TMEM43', 'score': 9.73}, {'connected_gene': 'GC03P014432', 'score': 0.34}, {'connected_gene': 'GC03M014530', 'score': 0.18}, {'connected_gene': 'RNU6-905P', 'score': 0.18}]
chr3 GH03I014849 14849549 14850627 0.38 [{'connected_gene': 'FGD5-AS1', 'score': 4.54}, {'connected_gene': 'PIR49239', 'score': 0.31}, {'connected_gene': 'FGD5', 'score': 0.28}, {'connected_gene': 'LOC105376963', 'score': 0.19}]
chr3 GH03I014869 14869765 14872554 0.31 [{'connected_gene': 'FGD5-AS1', 'score': 5.38}, {'connected_gene': 'PIR49239', 'score': 0.23}, {'connected_gene': 'LOC105376963', 'score': 0.23}, {'connected_gene': 'FGD5', 'score': 0.21}]
chr3 GH03I014839 14837095 14838481 0.89 [{'connected_gene': 'ENSG00000230172', 'score': 10.96}, {'connected_gene': 'C3orf20', 'score': 10.63}, {'connected_gene': 'TMEM43', 'score': 5.13}, {'connected_gene': 'PIR49239', 'score': 0.37}, {'connected_gene': 'FGD5', 'score': 0.31}, {'connected_gene': 'LOC105376963', 'score': 0.18}]
chr3 GH03I014838 14838608 14839308 0.49 [{'connected_gene': 'ENSG00000230172', 'score': 10.96}, {'connected_gene': 'C3orf20', 'score': 10.63}, {'connected_gene': 'PIR49239', 'score': 0.37}, {'connected_gene': 'FGD5', 'score': 0.31}, {'connected_gene': 'LOC105376963', 'score': 0.18}]
chr3 GH03I014925 14925774 14925883 0.64 [{'connected_gene': 'PIR33304', 'score': 550.77}, {'connected_gene': 'C3orf20', 'score': 11.29}, {'connected_gene': 'LOC105376963', 'score': 0.77}, {'connected_gene': 'FGD5-AS1', 'score': 0.34}, {'connected_gene': 'FGD5', 'score': 0.14}]
chr3 GH03I014905 14905007 14908545 0.65 [{'connected_gene': 'ENSG00000235629', 'score': 9.98}, {'connected_gene': 'CCDC174', 'score': 9.98}, {'connected_gene': 'LOC105376963', 'score': 0.37}, {'connected_gene': 'PIR49239', 'score': 0.17}, {'connected_gene': 'FGD5', 'score': 0.15}]
chr3 GH03I014901 14900354 14900503 0.65 [{'connected_gene': 'ENSG00000235629', 'score': 9.98}, {'connected_gene': 'CCDC174', 'score': 9.97}, {'connected_gene': 'LOC105376963', 'score': 0.34}, {'connected_gene': 'PIR49239', 'score': 0.18}, {'connected_gene': 'FGD5', 'score': 0.17}]
chr3 GH03I014903 14900872 14902031 0.64 [{'connected_gene': 'ENSG00000235629', 'score': 9.98}, {'connected_gene': 'CCDC174', 'score': 9.97}, {'connected_gene': 'LOC105376963', 'score': 0.34}, {'connected_gene': 'PIR49239', 'score': 0.18}, {'connected_gene': 'FGD5', 'score': 0.16}]
chr3 GH03I014900 14900114 14900343 0.66 [{'connected_gene': 'ENSG00000235629', 'score': 9.98}, {'connected_gene': 'CCDC174', 'score': 9.97}, {'connected_gene': 'LOC105376963', 'score': 0.34}, {'connected_gene': 'PIR49239', 'score': 0.18}, {'connected_gene': 'FGD5', 'score': 0.17}]
chr3 GH03I014902 14902346 14903175 0.58 [{'connected_gene': 'ENSG00000235629', 'score': 9.98}, {'connected_gene': 'CCDC174', 'score': 9.98}, {'connected_gene': 'LOC105376963', 'score': 0.37}, {'connected_gene': 'PIR49239', 'score': 0.18}, {'connected_gene': 'FGD5', 'score': 0.16}]
chr3 GH03I014861 14861401 14861800 0.72 [{'connected_gene': 'PIR49239', 'score': 0.26}, {'connected_gene': 'FGD5', 'score': 0.23}, {'connected_gene': 'LOC105376963', 'score': 0.21}]
chr3 GH03I014820 14820258 14821929 0.38 [{'connected_gene': 'PIR49239', 'score': 550.77}, {'connected_gene': 'FGD5', 'score': 0.39}, {'connected_gene': 'LOC105376963', 'score': 0.15}]
chr3 GH03I014837 14836446 14836684 0.94 [{'connected_gene': 'PIR49239', 'score': 0.37}, {'connected_gene': 'FGD5', 'score': 0.31}, {'connected_gene': 'LOC105376963', 'score': 0.17}]
chr3 GH03I014836 14836234 14836383 1.08 [{'connected_gene': 'PIR49239', 'score': 0.37}, {'connected_gene': 'FGD5', 'score': 0.31}, {'connected_gene': 'LOC105376963', 'score': 0.17}]
chr3 GH03I014792 14792425 14794675 0.2 [{'connected_gene': 'PIR61652', 'score': 0.37}, {'connected_gene': 'FGD5', 'score': 0.37}]
chr3 GH03I014867 14867552 14868973 0.56 [{'connected_gene': 'PIR49239', 'score': 0.25}, {'connected_gene': 'LOC105376963', 'score': 0.23}, {'connected_gene': 'FGD5', 'score': 0.22}]