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
ENST00000546373 [[69249536, 69250459], [69252702, 69252851], [69260675, 69260828], [69263104, 69263275], [69263994, 69264179], [69265563, 69265736], [69279571, 69279669], [69326457, 69326620], [69356948, 69357049]] [[69250216, 69250459], [69252702, 69252851], [69260675, 69260828], [69263104, 69263275], [69263994, 69264179], [69265563, 69265736], [69279571, 69279669], [69326457, 69326617]]
ENST00000546556 [[69235976, 69236109], [69249760, 69250324]] [[69250216, 69250324]]
ENST00000551897 [[69235987, 69236109], [69250423, 69250459], [69252702, 69252851], [69260675, 69260828], [69263104, 69263275], [69263994, 69264018]] [[69236046, 69236109], [69250423, 69250459], [69252702, 69252851], [69260675, 69260828], [69263104, 69263275], [69263994, 69264018]]
ENST00000551568 [[69244954, 69250459], [69252702, 69252851], [69260675, 69260828], [69263104, 69263275], [69263994, 69264179], [69265563, 69265736], [69279571, 69279669], [69326457, 69326620], [69326921, 69326979]] [[69250216, 69250459], [69252702, 69252851], [69260675, 69260828], [69263104, 69263275], [69263994, 69264179], [69265563, 69265736], [69279571, 69279669], [69326457, 69326617]]
ENST00000338356 [[69244959, 69250459], [69252702, 69252851], [69260675, 69260828], [69263104, 69263275], [69263994, 69264179], [69265563, 69265736], [69279571, 69279669], [69326457, 69326664]] [[69250216, 69250459], [69252702, 69252851], [69260675, 69260828], [69263104, 69263275], [69263994, 69264179], [69265563, 69265736], [69279571, 69279669], [69326457, 69326617]]
ENST00000546912 [[69260604, 69260828], [69263104, 69263275], [69263994, 69264162]] None
ENST00000548954 [[69263143, 69263275], [69263994, 69264179], [69265563, 69265736], [69279571, 69279669], [69326457, 69326620], [69326939, 69326982]] [[69263143, 69263275], [69263994, 69264179], [69265563, 69265736], [69279571, 69279669], [69326457, 69326617]]
ENST00000551728 [[69263154, 69263275], [69263994, 69264179], [69265563, 69265736], [69326457, 69326620], [69326921, 69326982]] [[69265701, 69265736], [69326457, 69326617]]
ENST00000547134 [[69264009, 69264179], [69265563, 69265736], [69326457, 69326620], [69326949, 69326979]] [[69265701, 69265736], [69326457, 69326617]]
ENST00000547924 [[69265473, 69265736], [69279571, 69279665], [69326457, 69326620], [69326921, 69326951]] None
ENST00000548262 [[69265585, 69265736], [69279571, 69279669], [69326457, 69326620], [69326909, 69326951]] [[69265585, 69265736], [69279571, 69279669], [69326457, 69326617]]
ENST00000549781 [[69279607, 69279665], [69326457, 69326620], [69326921, 69326943]] [[69279607, 69279665], [69326457, 69326617]]
ENST00000549691 [[69351369, 69351458], [69356948, 69357080], [69365044, 69365350]] None
NM_001874 [[69244954, 69250459], [69252702, 69252851], [69260675, 69260828], [69263104, 69263275], [69263994, 69264179], [69265563, 69265736], [69279571, 69279669], [69326457, 69326620], [69356948, 69357020]] [[69250216, 69250459], [69252702, 69252851], [69260675, 69260828], [69263104, 69263275], [69263994, 69264179], [69265563, 69265736], [69279571, 69279669], [69326457, 69326617]]
NM_198320 [[69244954, 69250459], [69252702, 69252851], [69260675, 69260828], [69263104, 69263275], [69263994, 69264179], [69265563, 69265736], [69279571, 69279669], [69326457, 69326620], [69326921, 69326979]] [[69250216, 69250459], [69252702, 69252851], [69260675, 69260828], [69263104, 69263275], [69263994, 69264179], [69265563, 69265736], [69279571, 69279669], [69326457, 69326617]]
NM_001005502 [[69244954, 69250459], [69252702, 69252851], [69260675, 69260828], [69263104, 69263275], [69263994, 69264179], [69265563, 69265736], [69279571, 69279669], [69326457, 69326620], [69326939, 69326979]] [[69250216, 69250459], [69252702, 69252851], [69260675, 69260828], [69263104, 69263275], [69263994, 69264179], [69265563, 69265736], [69279571, 69279669], [69326457, 69326617]]
Promoter
Chrom Start End Description
chr12 69326940 69326993 CAGE_peak_1_at_CPM_5end
chr12 69357215 69357226 CAGE_peak_6_at_CPM_5end
chr12 69357232 69357253 CAGE_peak_3_at_CPM_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I068609 68609341 68616000 2.73 [{'connected_gene': 'RAP1B', 'score': 565.92}, {'connected_gene': 'NUP107', 'score': 39.87}, {'connected_gene': 'CPSF6', 'score': 15.45}, {'connected_gene': 'MDM2', 'score': 14.02}, {'connected_gene': 'KRT8P39', 'score': 11.91}, {'connected_gene': 'CPM', 'score': 11.42}, {'connected_gene': 'LINC02384', 'score': 11.17}, {'connected_gene': 'MDM1', 'score': 11.14}, {'connected_gene': 'RPL10P12', 'score': 11.07}, {'connected_gene': 'IFNG', 'score': 1.11}, {'connected_gene': 'GC12P068625', 'score': 0.39}]
chr12 GH12I068935 68935390 68939084 0.43 [{'connected_gene': 'MDM1', 'score': 4.59}, {'connected_gene': 'PRELID2P1', 'score': 0.34}, {'connected_gene': 'ENSG00000257289', 'score': 0.34}, {'connected_gene': 'CPM', 'score': 0.29}]
chr12 GH12I068783 68783801 68789045 1.44 [{'connected_gene': 'MDM2', 'score': 23.53}, {'connected_gene': 'RAP1B', 'score': 15.19}, {'connected_gene': 'CPM', 'score': 15.06}, {'connected_gene': 'SLC35E3', 'score': 12.09}, {'connected_gene': 'LOC100130075', 'score': 5.86}, {'connected_gene': 'LOC105369820', 'score': 0.77}]
chr12 GH12I068983 68983074 68983262 0.22 [{'connected_gene': 'MDM2', 'score': 37.01}, {'connected_gene': 'FRS2', 'score': 36.02}, {'connected_gene': 'CPSF6', 'score': 35.69}, {'connected_gene': 'YEATS4', 'score': 35.49}, {'connected_gene': 'NUP107', 'score': 17.28}, {'connected_gene': 'SLC35E3', 'score': 7.48}, {'connected_gene': 'CPM', 'score': 1.81}, {'connected_gene': 'GC12M069009', 'score': 0.31}]
chr12 GH12I068803 68803184 68810219 2.57 [{'connected_gene': 'MDM2', 'score': 558.47}, {'connected_gene': 'LOC100130075', 'score': 557.83}, {'connected_gene': 'NUP107', 'score': 51.28}, {'connected_gene': 'CPSF6', 'score': 24.43}, {'connected_gene': 'RPL10P12', 'score': 22.77}, {'connected_gene': 'RAP1B', 'score': 22.35}, {'connected_gene': 'KRT8P39', 'score': 22.29}, {'connected_gene': 'C1GALT1P1', 'score': 15.06}, {'connected_gene': 'SLC35E3', 'score': 2.8}, {'connected_gene': 'CPM', 'score': 2.13}, {'connected_gene': 'MDM1', 'score': 1.89}]
chr12 GH12I068851 68851001 68851150 0.54 [{'connected_gene': 'MDM2', 'score': 10.68}, {'connected_gene': 'LOC100130075', 'score': 10.67}, {'connected_gene': 'ENSG00000257181', 'score': 0.44}, {'connected_gene': 'RNU7-4P', 'score': 0.21}, {'connected_gene': 'CPM', 'score': 0.13}]
chr12 GH12I069337 69337002 69339218 1.45 [{'connected_gene': 'LYZ', 'score': 61.36}, {'connected_gene': 'YEATS4', 'score': 12.93}, {'connected_gene': 'CPM', 'score': 3.29}, {'connected_gene': 'ENSG00000274979', 'score': 0.44}]
chr12 GH12I069068 69068350 69068950 1.02 [{'connected_gene': 'LYZ', 'score': 5.8}, {'connected_gene': 'RAP1B', 'score': 3.96}, {'connected_gene': 'CPM', 'score': 2.27}, {'connected_gene': 'GC12M069009', 'score': 0.22}, {'connected_gene': 'GC12M069139', 'score': 0.19}]
chr12 GH12I069039 69039800 69040310 0.87 [{'connected_gene': 'LYZ', 'score': 9.95}, {'connected_gene': 'RAP1B', 'score': 7.52}, {'connected_gene': 'CPM', 'score': 4.34}, {'connected_gene': 'GC12M069009', 'score': 0.29}, {'connected_gene': 'GC12M069139', 'score': 0.15}]
chr12 GH12I069066 69066524 69066787 0.45 [{'connected_gene': 'LYZ', 'score': 4.07}, {'connected_gene': 'RAP1B', 'score': 2.66}, {'connected_gene': 'CPM', 'score': 1.69}, {'connected_gene': 'GC12M069009', 'score': 0.22}, {'connected_gene': 'GC12M069139', 'score': 0.19}]
chr12 GH12I068961 68961777 68964758 1.46 [{'connected_gene': 'CPM', 'score': 601.96}, {'connected_gene': 'RAP1B', 'score': 6.62}, {'connected_gene': 'LYZ', 'score': 4.72}, {'connected_gene': 'PRELID2P1', 'score': 0.44}]
chr12 GH12I069055 69055704 69056088 0.61 [{'connected_gene': 'CPM', 'score': 57.35}, {'connected_gene': 'RAP1B', 'score': 6.94}, {'connected_gene': 'LYZ', 'score': 5.47}, {'connected_gene': 'GC12M069009', 'score': 0.25}, {'connected_gene': 'GC12M069139', 'score': 0.18}]
chr12 GH12I069052 69052025 69054139 1.28 [{'connected_gene': 'CPM', 'score': 18.92}, {'connected_gene': 'RAP1B', 'score': 5.03}, {'connected_gene': 'LYZ', 'score': 2.97}, {'connected_gene': 'GC12M069009', 'score': 0.26}, {'connected_gene': 'GC12M069139', 'score': 0.17}]
chr12 GH12I068922 68922463 68922639 0.47 [{'connected_gene': 'CPM', 'score': 4.82}, {'connected_gene': 'RAP1B', 'score': 1.2}, {'connected_gene': 'ENSG00000257289', 'score': 0.44}, {'connected_gene': 'PRELID2P1', 'score': 0.28}]
chr12 GH12I068932 68932001 68933790 2 [{'connected_gene': 'CPM', 'score': 550.28}, {'connected_gene': 'CPSF6', 'score': 15.48}, {'connected_gene': 'NUP107', 'score': 15.31}, {'connected_gene': 'KRT8P39', 'score': 11.82}, {'connected_gene': 'MDM2', 'score': 11.1}, {'connected_gene': 'RPL10P12', 'score': 10.73}, {'connected_gene': 'ENSG00000257289', 'score': 0.37}, {'connected_gene': 'PRELID2P1', 'score': 0.34}]
chr12 GH12I068943 68943714 68945014 0.96 [{'connected_gene': 'CPM', 'score': 561.11}, {'connected_gene': 'CPSF6', 'score': 11.87}, {'connected_gene': 'RNU7-4P', 'score': 11.49}, {'connected_gene': 'NUP107', 'score': 11.39}, {'connected_gene': 'KRT8P39', 'score': 9.84}, {'connected_gene': 'PRELID2P1', 'score': 0.39}, {'connected_gene': 'ENSG00000257289', 'score': 0.29}]
chr12 GH12I068919 68919486 68920171 0.64 [{'connected_gene': 'CPM', 'score': 10.01}, {'connected_gene': 'ENSG00000257289', 'score': 0.44}, {'connected_gene': 'PRELID2P1', 'score': 0.28}]
chr12 GH12I068970 68970601 68971999 0.72 [{'connected_gene': 'CPM', 'score': 550.77}, {'connected_gene': 'PRELID2P1', 'score': 0.39}]
chr12 GH12I068918 68918022 68918240 0.54 [{'connected_gene': 'CPM', 'score': 3.14}, {'connected_gene': 'ENSG00000257289', 'score': 0.77}, {'connected_gene': 'PRELID2P1', 'score': 0.28}]
chr12 GH12I069057 69056401 69056600 0.2 [{'connected_gene': 'CPM', 'score': 11.48}, {'connected_gene': 'GC12M069009', 'score': 0.25}, {'connected_gene': 'GC12M069139', 'score': 0.18}]
chr12 GH12I069056 69056821 69056970 0.31 [{'connected_gene': 'CPM', 'score': 11.47}, {'connected_gene': 'GC12M069009', 'score': 0.25}, {'connected_gene': 'GC12M069139', 'score': 0.18}]
chr12 GH12I068875 68875854 68877856 0.38 [{'connected_gene': 'CPSF6', 'score': 17.67}, {'connected_gene': 'NUP107', 'score': 15.28}, {'connected_gene': 'RNU7-4P', 'score': 11.09}, {'connected_gene': 'ENSG00000257181', 'score': 0.29}, {'connected_gene': 'CPM', 'score': 0.16}]
chr12 GH12I068963 68960643 68960902 0.4 [{'connected_gene': 'CPSF6', 'score': 4.59}, {'connected_gene': 'PRELID2P1', 'score': 0.77}, {'connected_gene': 'CPM', 'score': 0.39}]
chr12 GH12I068941 68941560 68942112 0.51 [{'connected_gene': 'CPSF6', 'score': 4.58}, {'connected_gene': 'PRELID2P1', 'score': 0.37}, {'connected_gene': 'ENSG00000257289', 'score': 0.31}, {'connected_gene': 'CPM', 'score': 0.31}]
chr12 GH12I068962 68960261 68960410 0.4 [{'connected_gene': 'PRELID2P1', 'score': 0.77}, {'connected_gene': 'CPM', 'score': 0.39}]
chr12 GH12I068959 68959601 68959800 0.58 [{'connected_gene': 'PRELID2P1', 'score': 0.77}, {'connected_gene': 'CPM', 'score': 0.39}]
chr12 GH12I068960 68960041 68960190 0.4 [{'connected_gene': 'PRELID2P1', 'score': 0.77}, {'connected_gene': 'CPM', 'score': 0.39}]
chr12 GH12I068559 68559072 68561578 1.21 [{'connected_gene': 'LINC02384', 'score': 10.9}, {'connected_gene': 'SNORA70G', 'score': 10.88}, {'connected_gene': 'RPL10P12', 'score': 10.88}, {'connected_gene': 'MDM1', 'score': 10.83}, {'connected_gene': 'NUP107', 'score': 8.4}, {'connected_gene': 'RAP1B', 'score': 4.2}, {'connected_gene': 'CPM', 'score': 1.62}, {'connected_gene': 'RPSAP12', 'score': 0.44}, {'connected_gene': 'ENSG00000274459', 'score': 0.37}]
chr12 GH12I068866 68866466 68868505 0.56 [{'connected_gene': 'RNU7-4P', 'score': 11.36}, {'connected_gene': 'CPM', 'score': 11.05}, {'connected_gene': 'MDM2', 'score': 10.28}, {'connected_gene': 'LOC100130075', 'score': 10.27}, {'connected_gene': 'IL26', 'score': 9.87}, {'connected_gene': 'ENSG00000257181', 'score': 0.34}]
chr12 GH12I069059 69059078 69060361 1.18 [{'connected_gene': 'RNU7-4P', 'score': 10.57}, {'connected_gene': 'CPM', 'score': 9.0}, {'connected_gene': 'LYZ', 'score': 7.01}, {'connected_gene': 'RAP1B', 'score': 6.36}, {'connected_gene': 'GC12M069009', 'score': 0.23}, {'connected_gene': 'GC12M069139', 'score': 0.18}]
chr12 GH12I068911 68911854 68911922 0.44 [{'connected_gene': 'RNU7-4P', 'score': 550.77}, {'connected_gene': 'ENSG00000257289', 'score': 550.77}, {'connected_gene': 'GC12P068912', 'score': 550.77}, {'connected_gene': 'CPM', 'score': 3.27}, {'connected_gene': 'LYZ', 'score': 2.28}, {'connected_gene': 'RAP1B', 'score': 1.94}, {'connected_gene': 'ENSG00000257181', 'score': 0.2}]
chr12 GH12I068968 68968379 68969627 0.4 [{'connected_gene': 'RNU7-4P', 'score': 11.0}, {'connected_gene': 'CPM', 'score': 0.77}, {'connected_gene': 'PRELID2P1', 'score': 0.39}]
chr12 GH12I068899 68899261 68899699 0.87 [{'connected_gene': 'RNU7-4P', 'score': 0.39}, {'connected_gene': 'ENSG00000257181', 'score': 0.22}, {'connected_gene': 'CPM', 'score': 0.19}]
chr12 GH12I068897 68897301 68897450 0.66 [{'connected_gene': 'RNU7-4P', 'score': 0.39}, {'connected_gene': 'ENSG00000257181', 'score': 0.23}, {'connected_gene': 'CPM', 'score': 0.19}]
chr12 GH12I068903 68903541 68903690 0.4 [{'connected_gene': 'RNU7-4P', 'score': 0.44}, {'connected_gene': 'ENSG00000257181', 'score': 0.21}, {'connected_gene': 'CPM', 'score': 0.2}]
chr12 GH12I068904 68904132 68904260 0.4 [{'connected_gene': 'RNU7-4P', 'score': 0.44}, {'connected_gene': 'ENSG00000257181', 'score': 0.21}, {'connected_gene': 'CPM', 'score': 0.2}]
chr12 GH12I068889 68889781 68890000 0.94 [{'connected_gene': 'RNU7-4P', 'score': 12.24}, {'connected_gene': 'ENSG00000257181', 'score': 0.25}, {'connected_gene': 'CPM', 'score': 0.18}]
chr12 GH12I068898 68897821 68897990 1 [{'connected_gene': 'RNU7-4P', 'score': 0.39}, {'connected_gene': 'ENSG00000257181', 'score': 0.23}, {'connected_gene': 'CPM', 'score': 0.19}]
chr12 GH12I068951 68951294 68952654 1.15 [{'connected_gene': 'RNU7-4P', 'score': 11.35}, {'connected_gene': 'CPSF6', 'score': 7.51}, {'connected_gene': 'CPM', 'score': 4.36}, {'connected_gene': 'MDM2', 'score': 3.92}, {'connected_gene': 'YEATS4', 'score': 3.78}, {'connected_gene': 'NUP107', 'score': 2.55}, {'connected_gene': 'SLC35E3', 'score': 1.59}, {'connected_gene': 'PRELID2P1', 'score': 0.44}, {'connected_gene': 'ENSG00000257289', 'score': 0.28}]
chr12 GH12I068885 68885019 68889522 0.43 [{'connected_gene': 'RNU7-4P', 'score': 12.2}, {'connected_gene': 'KRT8P39', 'score': 4.92}, {'connected_gene': 'ENSG00000257181', 'score': 0.26}, {'connected_gene': 'CPM', 'score': 0.18}]
chr12 GH12I069328 69328449 69334568 2.01 [{'connected_gene': 'ENSG00000274979', 'score': 550.77}, {'connected_gene': 'LYZ', 'score': 40.75}, {'connected_gene': 'NUP107', 'score': 19.98}, {'connected_gene': 'YEATS4', 'score': 19.57}, {'connected_gene': 'CNOT2', 'score': 16.33}, {'connected_gene': 'CPSF6', 'score': 14.5}, {'connected_gene': 'KRT8P39', 'score': 11.09}, {'connected_gene': 'CPM', 'score': 1.89}, {'connected_gene': 'GC12M069304', 'score': 0.34}]
chr12 GH12I069006 69006235 69009579 1.32 [{'connected_gene': 'GC12M069009', 'score': 550.77}, {'connected_gene': 'CPM', 'score': 37.58}, {'connected_gene': 'RAP1B', 'score': 11.78}, {'connected_gene': 'LYZ', 'score': 8.74}, {'connected_gene': 'CPSF6', 'score': 4.08}, {'connected_gene': 'MDM2', 'score': 4.07}, {'connected_gene': 'FRS2', 'score': 3.93}, {'connected_gene': 'YEATS4', 'score': 3.65}, {'connected_gene': 'SLC35E3', 'score': 3.13}, {'connected_gene': 'NUP107', 'score': 2.54}]
chr12 GH12I069000 69000504 69001925 0.4 [{'connected_gene': 'GC12M069009', 'score': 0.44}, {'connected_gene': 'CPM', 'score': 0.31}]
chr12 GH12I069001 69000265 69000330 0.52 [{'connected_gene': 'GC12M069009', 'score': 0.44}, {'connected_gene': 'CPM', 'score': 0.31}]
chr12 GH12I068924 68924122 68925536 0.43 [{'connected_gene': 'ENSG00000257289', 'score': 0.39}, {'connected_gene': 'PRELID2P1', 'score': 0.29}, {'connected_gene': 'CPM', 'score': 0.25}]
chr12 GH12I068914 68914062 68915802 0.51 [{'connected_gene': 'ENSG00000257289', 'score': 550.77}, {'connected_gene': 'PRELID2P1', 'score': 0.26}, {'connected_gene': 'CPM', 'score': 0.22}]
chr12 GH12I068930 68930201 68930400 0.63 [{'connected_gene': 'ENSG00000257289', 'score': 0.37}, {'connected_gene': 'PRELID2P1', 'score': 0.31}, {'connected_gene': 'CPM', 'score': 0.26}]

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