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
ENST00000514344 [[98190907, 98192429], [98193883, 98194094], [98194667, 98194719], [98195675, 98195772], [98199111, 98199290], [98204198, 98204339], [98205457, 98205586], [98206390, 98206507], [98207754, 98208261]] None
ENST00000512392 [[98191435, 98192429], [98193883, 98194094], [98194667, 98194719], [98195675, 98196386]] None
ENST00000284049 [[98191448, 98192429], [98193883, 98194094], [98194667, 98194719], [98195675, 98195772], [98199111, 98199290], [98204198, 98204339], [98205457, 98205586], [98206390, 98206507], [98207754, 98207905], [98208120, 98208259], [98209296, 98209427], [98210775, 98210817], [98212101, 98212262], [98215255, 98215432], [98216779, 98216875], [98216982, 98217079], [98217678, 98217827], [98218791, 98218941], [98221281, 98221353], [98223791, 98223944], [98224779, 98224942], [98228228, 98228417], [98229119, 98229310], [98230300, 98230390], [98231929, 98232146], [98232896, 98233024], [98233959, 98234138], [98234367, 98234468], [98235183, 98235409], [98236514, 98236786], [98236889, 98237039], [98238603, 98238668], [98239495, 98239612], [98240600, 98240802], [98262037, 98262240]] [[98192083, 98192429], [98193883, 98194094], [98194667, 98194719], [98195675, 98195772], [98199111, 98199290], [98204198, 98204339], [98205457, 98205586], [98206390, 98206507], [98207754, 98207905], [98208120, 98208259], [98209296, 98209427], [98210775, 98210817], [98212101, 98212262], [98215255, 98215432], [98216779, 98216875], [98216982, 98217079], [98217678, 98217827], [98218791, 98218941], [98221281, 98221353], [98223791, 98223944], [98224779, 98224942], [98228228, 98228417], [98229119, 98229310], [98230300, 98230390], [98231929, 98232146], [98232896, 98233024], [98233959, 98234138], [98234367, 98234468], [98235183, 98235409], [98236514, 98236786], [98236889, 98237039], [98238603, 98238668], [98239495, 98239612], [98240600, 98240802], [98262037, 98262090]]
ENST00000512844 [[98191986, 98192429], [98193883, 98194094], [98194667, 98194719], [98195675, 98195772], [98204198, 98204243]] [[98195748, 98195772], [98204198, 98204243]]
ENST00000513064 [[98192128, 98192429], [98193883, 98194368]] None
ENST00000505657 [[98192270, 98192429], [98193883, 98194094], [98194667, 98194719], [98199111, 98199290], [98204198, 98204333]] [[98194691, 98194719], [98199111, 98199290], [98204198, 98204333]]
ENST00000511067 [[98199111, 98199290], [98204198, 98204339], [98204717, 98204981], [98205457, 98205586], [98206390, 98206494]] None
ENST00000508756 [[98204633, 98204981], [98205457, 98205586], [98206390, 98206507], [98207754, 98207884]] None
ENST00000414220 [[98205182, 98205586], [98206390, 98206420]] None
ENST00000511628 [[98216950, 98217079], [98217678, 98217827], [98218791, 98218941], [98221281, 98221353], [98223791, 98223890]] None
ENST00000505982 [[98218837, 98218941], [98221281, 98221935]] None
NM_001270 [[98190907, 98192429], [98193883, 98194094], [98194667, 98194719], [98195675, 98195772], [98199111, 98199290], [98204198, 98204339], [98205457, 98205586], [98206390, 98206507], [98207754, 98207905], [98208120, 98208259], [98209296, 98209427], [98210775, 98210817], [98212101, 98212262], [98215255, 98215432], [98216779, 98216875], [98216982, 98217079], [98217678, 98217827], [98218791, 98218941], [98221281, 98221353], [98223791, 98223944], [98224779, 98224942], [98228228, 98228417], [98229119, 98229310], [98230300, 98230390], [98231929, 98232146], [98232896, 98233024], [98233959, 98234138], [98234367, 98234468], [98235183, 98235409], [98236514, 98236786], [98236889, 98237039], [98238603, 98238668], [98239495, 98239612], [98240600, 98240802], [98262037, 98262238]] [[98192083, 98192429], [98193883, 98194094], [98194667, 98194719], [98195675, 98195772], [98199111, 98199290], [98204198, 98204339], [98205457, 98205586], [98206390, 98206507], [98207754, 98207905], [98208120, 98208259], [98209296, 98209427], [98210775, 98210817], [98212101, 98212262], [98215255, 98215432], [98216779, 98216875], [98216982, 98217079], [98217678, 98217827], [98218791, 98218941], [98221281, 98221353], [98223791, 98223944], [98224779, 98224942], [98228228, 98228417], [98229119, 98229310], [98230300, 98230390], [98231929, 98232146], [98232896, 98233024], [98233959, 98234138], [98234367, 98234468], [98235183, 98235409], [98236514, 98236786], [98236889, 98237039], [98238603, 98238668], [98239495, 98239612], [98240600, 98240802], [98262037, 98262090]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I098767 98767391 98777693 2.28 [{'connected_gene': 'RGMB-AS1', 'score': 583.28}, {'connected_gene': 'RGMB', 'score': 555.52}, {'connected_gene': 'CHD1', 'score': 39.65}]
chr5 GH05I099019 99019258 99022562 1.17 [{'connected_gene': 'RGMB-AS1', 'score': 15.87}, {'connected_gene': 'CHD1', 'score': 11.35}, {'connected_gene': 'LINC02062', 'score': 11.35}, {'connected_gene': 'RGMB', 'score': 10.11}, {'connected_gene': 'PIR38453', 'score': 0.39}, {'connected_gene': 'GC05P099011', 'score': 0.39}, {'connected_gene': 'PIR33197', 'score': 0.09}]
chr5 GH05I099032 99032117 99034611 1.07 [{'connected_gene': 'RGMB-AS1', 'score': 15.18}, {'connected_gene': 'CHD1', 'score': 11.34}, {'connected_gene': 'LINC02062', 'score': 11.34}, {'connected_gene': 'RGMB', 'score': 10.15}, {'connected_gene': 'PIR38453', 'score': 0.34}, {'connected_gene': 'GC05P099011', 'score': 0.34}, {'connected_gene': 'PIR33197', 'score': 0.1}]
chr5 GH05I098907 98907656 98908842 0.43 [{'connected_gene': 'RGMB-AS1', 'score': 8.72}, {'connected_gene': 'RNU6-402P', 'score': 0.37}, {'connected_gene': 'CHD1', 'score': 0.34}]
chr5 GH05I098905 98905977 98906146 0.83 [{'connected_gene': 'RGMB-AS1', 'score': 5.87}, {'connected_gene': 'RNU6-402P', 'score': 0.37}, {'connected_gene': 'CHD1', 'score': 0.34}]
chr5 GH05I098901 98901835 98903066 0.54 [{'connected_gene': 'RGMB-AS1', 'score': 5.4}, {'connected_gene': 'RNU6-402P', 'score': 0.39}, {'connected_gene': 'CHD1', 'score': 0.31}]
chr5 GH05I098483 98482969 98483917 0.58 [{'connected_gene': 'CHD1', 'score': 3.92}, {'connected_gene': 'MTCO1P24', 'score': 0.19}, {'connected_gene': 'CTBP2P4', 'score': 0.16}]
chr5 GH05I099037 99037257 99038605 0.84 [{'connected_gene': 'CHD1', 'score': 11.57}, {'connected_gene': 'RNU6-402P', 'score': 11.54}, {'connected_gene': 'LINC02062', 'score': 11.26}, {'connected_gene': 'RGMB-AS1', 'score': 5.35}, {'connected_gene': 'PIR38453', 'score': 0.31}, {'connected_gene': 'GC05P099011', 'score': 0.31}, {'connected_gene': 'PIR33197', 'score': 0.1}]
chr5 GH05I098906 98906220 98907327 0.6 [{'connected_gene': 'CHD1', 'score': 7.0}, {'connected_gene': 'RNU6-402P', 'score': 0.37}]
chr5 GH05I098917 98917631 98918031 0.5 [{'connected_gene': 'CHD1', 'score': 30.38}, {'connected_gene': 'RNU6-402P', 'score': 11.18}]
chr5 GH05I098105 98105153 98112125 1.22 [{'connected_gene': 'CHD1', 'score': 4.21}, {'connected_gene': 'PIR59904', 'score': 0.34}, {'connected_gene': 'LINC01846', 'score': 0.23}]
chr5 GH05I098932 98932196 98935721 1.38 [{'connected_gene': 'CHD1', 'score': 8.18}, {'connected_gene': 'LINC02062', 'score': 6.12}, {'connected_gene': 'RGMB-AS1', 'score': 5.29}, {'connected_gene': 'GC05M098937', 'score': 0.77}, {'connected_gene': 'ENSG00000200351', 'score': 0.77}]
chr5 GH05I098989 98989734 98990284 0.4 [{'connected_gene': 'CHD1', 'score': 11.35}, {'connected_gene': 'LINC02062', 'score': 11.35}, {'connected_gene': 'RGMB-AS1', 'score': 7.12}, {'connected_gene': 'PIR44917', 'score': 0.77}, {'connected_gene': 'PIR38453', 'score': 0.34}, {'connected_gene': 'GC05P099011', 'score': 0.34}]
chr5 GH05I099005 99005077 99005226 0.66 [{'connected_gene': 'CHD1', 'score': 11.4}, {'connected_gene': 'LINC02062', 'score': 11.4}, {'connected_gene': 'PIR38453', 'score': 0.77}, {'connected_gene': 'GC05P099011', 'score': 0.77}, {'connected_gene': 'PIR44917', 'score': 0.37}]
chr5 GH05I098925 98925629 98932109 2.64 [{'connected_gene': 'CHD1', 'score': 563.03}, {'connected_gene': 'LOC100289230', 'score': 550.77}, {'connected_gene': 'LINC02062', 'score': 550.77}, {'connected_gene': 'RGMB-AS1', 'score': 6.92}, {'connected_gene': 'RNU6-402P', 'score': 0.28}]
chr5 GH05I099030 99030801 99031000 0.43 [{'connected_gene': 'CHD1', 'score': 17.22}, {'connected_gene': 'PIR38453', 'score': 0.34}, {'connected_gene': 'GC05P099011', 'score': 0.34}, {'connected_gene': 'PIR33197', 'score': 0.1}]
chr5 GH05I098910 98910710 98912330 0.66 [{'connected_gene': 'RNU6-402P', 'score': 13.09}, {'connected_gene': 'RGMB-AS1', 'score': 5.38}, {'connected_gene': 'CHD1', 'score': 0.37}]
chr5 GH05I098919 98919240 98924823 0.57 [{'connected_gene': 'RNU6-402P', 'score': 11.24}, {'connected_gene': 'RGMB-AS1', 'score': 7.23}, {'connected_gene': 'CHD1', 'score': 6.97}]
chr5 GH05I098913 98913495 98915777 0.2 [{'connected_gene': 'RNU6-402P', 'score': 13.09}, {'connected_gene': 'CHD1', 'score': 7.18}, {'connected_gene': 'RGMB-AS1', 'score': 6.54}]
chr5 GH05I098898 98898450 98899706 0.2 [{'connected_gene': 'RNU6-402P', 'score': 0.44}, {'connected_gene': 'CHD1', 'score': 0.31}]
chr5 GH05I098936 98936251 98937738 0.2 [{'connected_gene': 'GC05M098937', 'score': 550.77}, {'connected_gene': 'ENSG00000200351', 'score': 550.77}, {'connected_gene': 'RNU6-402P', 'score': 11.42}, {'connected_gene': 'CHD1', 'score': 4.45}, {'connected_gene': 'LINC02062', 'score': 0.44}, {'connected_gene': 'RPS9P3', 'score': 0.37}]