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
ENST00000421745 [[32582095, 32582554], [32602655, 32602837], [32605220, 32605358], [32613817, 32614011], [32617106, 32617218], [32620578, 32620661], [32626230, 32626453], [32626530, 32626691], [32631566, 32631625], [32639836, 32641231], [32654213, 32654363], [32655932, 32656158], [32658711, 32658872], [32660563, 32660653], [32661120, 32661252], [32664575, 32664754], [32666396, 32666530], [32667132, 32667294], [32667391, 32667523], [32668558, 32668656], [32670588, 32670736], [32673862, 32673996], [32678875, 32679010], [32688261, 32688449], [32689576, 32689891], [32690132, 32690232], [32692592, 32692807], [32692970, 32693179], [32693504, 32693851], [32694462, 32694682], [32695235, 32695369], [32696081, 32696192], [32698179, 32698307], [32701280, 32701412], [32702435, 32702651], [32703702, 32703886], [32704529, 32704685], [32706387, 32706521], [32707496, 32707650], [32710709, 32710826], [32712713, 32712868], [32713654, 32713781], [32715107, 32715218], [32716491, 32716625], [32718606, 32718734], [32724613, 32725176], [32726779, 32726955], [32727861, 32727958], [32728108, 32728303], [32730071, 32730272], [32733046, 32733326], [32734804, 32735061], [32735592, 32735701], [32737999, 32738221], [32740056, 32740837], [32743320, 32743464], [32743883, 32744013], [32749954, 32750086], [32750530, 32750695], [32754717, 32754891], [32756421, 32756618], [32768307, 32768608], [32770709, 32770927], [32772916, 32773081], [32774379, 32774548], [32800222, 32800433], [32818981, 32819127], [32820100, 32820211], [32822817, 32823035], [32824805, 32824967], [32828072, 32828150], [32832521, 32832710], [32836514, 32836649], [32842791, 32843966]] [[32582229, 32582554], [32602655, 32602837], [32605220, 32605358], [32613817, 32614011], [32617106, 32617218], [32620578, 32620661], [32626230, 32626453], [32626530, 32626691], [32631566, 32631625], [32639836, 32641231], [32654213, 32654363], [32655932, 32656158], [32658711, 32658872], [32660563, 32660653], [32661120, 32661252], [32664575, 32664754], [32666396, 32666530], [32667132, 32667294], [32667391, 32667523], [32668558, 32668656], [32670588, 32670736], [32673862, 32673996], [32678875, 32679010], [32688261, 32688449], [32689576, 32689891], [32690132, 32690232], [32692592, 32692807], [32692970, 32693179], [32693504, 32693851], [32694462, 32694682], [32695235, 32695369], [32696081, 32696192], [32698179, 32698307], [32701280, 32701412], [32702435, 32702651], [32703702, 32703886], [32704529, 32704685], [32706387, 32706521], [32707496, 32707650], [32710709, 32710826], [32712713, 32712868], [32713654, 32713781], [32715107, 32715218], [32716491, 32716625], [32718606, 32718734], [32724613, 32725176], [32726779, 32726955], [32727861, 32727958], [32728108, 32728303], [32730071, 32730272], [32733046, 32733326], [32734804, 32735061], [32735592, 32735701], [32737999, 32738221], [32740056, 32740837], [32743320, 32743464], [32743883, 32744013], [32749954, 32750086], [32750530, 32750695], [32754717, 32754891], [32756421, 32756618], [32768307, 32768608], [32770709, 32770927], [32772916, 32773081], [32774379, 32774548], [32800222, 32800433], [32818981, 32819127], [32820100, 32820211], [32822817, 32823035], [32824805, 32824967], [32828072, 32828150], [32832521, 32832710], [32836514, 32836649], [32842791, 32842971]]
ENST00000471232 [[32749824, 32750086], [32750530, 32750695], [32754717, 32754891], [32756421, 32756618], [32768307, 32768608], [32770709, 32770927], [32772916, 32773081], [32774379, 32774548], [32800222, 32800433], [32815872, 32816045], [32818981, 32819127], [32820100, 32820211], [32822817, 32823035], [32824805, 32824967], [32828072, 32828150], [32832521, 32832710], [32836514, 32836649], [32842791, 32843943]] None
ENST00000466527 [[32613878, 32614011], [32617106, 32617218], [32620578, 32620661], [32626230, 32626487]] None
ENST00000444173 [[32658715, 32658872], [32661120, 32661252], [32664575, 32664754], [32666396, 32666503]] [[32658715, 32658872], [32661120, 32661252], [32664575, 32664754], [32666396, 32666503]]
ENST00000431454 [[32661142, 32661252], [32664575, 32664754], [32667132, 32667294], [32667391, 32667448]] [[32661142, 32661252], [32664575, 32664754], [32667132, 32667174]]
ENST00000483194 [[32668493, 32668656], [32670588, 32670736], [32673862, 32674253]] None
ENST00000462504 [[32698059, 32698307], [32701280, 32701349]] None
ENST00000497023 [[32727926, 32727958], [32728108, 32728303], [32730071, 32730422]] None
ENST00000496555 [[32734745, 32735061], [32735592, 32735701], [32737999, 32738156]] None
ENST00000461788 [[32740807, 32740837], [32743320, 32743464], [32743883, 32744286]] None
ENST00000470250 [[32800357, 32800433], [32818981, 32819377]] None
ENST00000465130 [[32827563, 32828150], [32832521, 32832710], [32836514, 32836648]] None
NM_016252 [[32582095, 32582554], [32602655, 32602837], [32605220, 32605358], [32613817, 32614011], [32617106, 32617218], [32620578, 32620661], [32626230, 32626453], [32626530, 32626691], [32631566, 32631625], [32639836, 32641231], [32654213, 32654363], [32655932, 32656158], [32658711, 32658872], [32660563, 32660653], [32661120, 32661252], [32664575, 32664754], [32666396, 32666530], [32667132, 32667294], [32667391, 32667523], [32668558, 32668656], [32670588, 32670736], [32673862, 32673996], [32678875, 32679010], [32688261, 32688449], [32689576, 32689891], [32690132, 32690232], [32692592, 32692807], [32692970, 32693179], [32693504, 32693851], [32694462, 32694682], [32695235, 32695369], [32696081, 32696192], [32698179, 32698307], [32701280, 32701412], [32702435, 32702651], [32703702, 32703886], [32704529, 32704685], [32706387, 32706521], [32707496, 32707650], [32710709, 32710826], [32712713, 32712868], [32713654, 32713781], [32715107, 32715218], [32716491, 32716625], [32718606, 32718734], [32724613, 32725176], [32726779, 32726955], [32727861, 32727958], [32728108, 32728303], [32730071, 32730272], [32733046, 32733326], [32734804, 32735061], [32735592, 32735701], [32737999, 32738221], [32740056, 32740837], [32743320, 32743464], [32743883, 32744013], [32749954, 32750086], [32750530, 32750695], [32754717, 32754891], [32756421, 32756618], [32768307, 32768608], [32770709, 32770927], [32772916, 32773081], [32774379, 32774548], [32800222, 32800433], [32818981, 32819127], [32820100, 32820211], [32822817, 32823035], [32824805, 32824967], [32828072, 32828150], [32832521, 32832710], [32836514, 32836649], [32842791, 32843966]] [[32582229, 32582554], [32602655, 32602837], [32605220, 32605358], [32613817, 32614011], [32617106, 32617218], [32620578, 32620661], [32626230, 32626453], [32626530, 32626691], [32631566, 32631625], [32639836, 32641231], [32654213, 32654363], [32655932, 32656158], [32658711, 32658872], [32660563, 32660653], [32661120, 32661252], [32664575, 32664754], [32666396, 32666530], [32667132, 32667294], [32667391, 32667523], [32668558, 32668656], [32670588, 32670736], [32673862, 32673996], [32678875, 32679010], [32688261, 32688449], [32689576, 32689891], [32690132, 32690232], [32692592, 32692807], [32692970, 32693179], [32693504, 32693851], [32694462, 32694682], [32695235, 32695369], [32696081, 32696192], [32698179, 32698307], [32701280, 32701412], [32702435, 32702651], [32703702, 32703886], [32704529, 32704685], [32706387, 32706521], [32707496, 32707650], [32710709, 32710826], [32712713, 32712868], [32713654, 32713781], [32715107, 32715218], [32716491, 32716625], [32718606, 32718734], [32724613, 32725176], [32726779, 32726955], [32727861, 32727958], [32728108, 32728303], [32730071, 32730272], [32733046, 32733326], [32734804, 32735061], [32735592, 32735701], [32737999, 32738221], [32740056, 32740837], [32743320, 32743464], [32743883, 32744013], [32749954, 32750086], [32750530, 32750695], [32754717, 32754891], [32756421, 32756618], [32768307, 32768608], [32770709, 32770927], [32772916, 32773081], [32774379, 32774548], [32800222, 32800433], [32818981, 32819127], [32820100, 32820211], [32822817, 32823035], [32824805, 32824967], [32828072, 32828150], [32832521, 32832710], [32836514, 32836649], [32842791, 32842971]]
Promoter
Chrom Start End Description
chr2 32582086 32582106 CAGE_peak_2_at_BIRC6_5end
chr2 32582126 32582137 CAGE_peak_3_at_BIRC6_5end
chr2 32582184 32582301 CAGE_peak_1_at_BIRC6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I032038 32038743 32040924 2.03 [{'connected_gene': 'DPY30', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 32.11}, {'connected_gene': 'BIRC6', 'score': 12.53}, {'connected_gene': 'TTC27', 'score': 10.0}, {'connected_gene': 'NLRC4', 'score': 5.46}, {'connected_gene': 'ENSG00000271228', 'score': 0.31}]
chr2 GH02I032277 32277072 32279201 2.03 [{'connected_gene': 'YIPF4', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 21.45}, {'connected_gene': 'BIRC6', 'score': 19.96}, {'connected_gene': 'TTC27', 'score': 15.14}, {'connected_gene': 'DDX50P1', 'score': 14.91}, {'connected_gene': 'RNU6-647P', 'score': 10.56}, {'connected_gene': 'NLRC4', 'score': 4.71}, {'connected_gene': 'ENSG00000272754', 'score': 0.26}]
chr2 GH02I032328 32328171 32330420 0.91 [{'connected_gene': 'YIPF4', 'score': 13.04}, {'connected_gene': 'TTC27', 'score': 7.25}, {'connected_gene': 'ENSG00000272754', 'score': 0.44}, {'connected_gene': 'BIRC6', 'score': 0.31}]
chr2 GH02I032463 32463899 32465169 0.2 [{'connected_gene': 'MIR558', 'score': 11.42}, {'connected_gene': 'BIRC6', 'score': 11.36}, {'connected_gene': 'TTC27', 'score': 5.47}, {'connected_gene': 'ENSG00000276334', 'score': 0.22}, {'connected_gene': 'BIRC6-AS1', 'score': 0.18}]
chr2 GH02I032617 32617441 32618483 0.71 [{'connected_gene': 'MIR558', 'score': 10.58}, {'connected_gene': 'BIRC6', 'score': 10.47}, {'connected_gene': 'TTC27', 'score': 5.06}, {'connected_gene': 'GC02M032591', 'score': 0.31}]
chr2 GH02I032496 32496401 32496801 0.49 [{'connected_gene': 'MIR558', 'score': 13.09}, {'connected_gene': 'BIRC6', 'score': 12.93}, {'connected_gene': 'ENSG00000276334', 'score': 0.31}, {'connected_gene': 'BIRC6-AS1', 'score': 0.13}]
chr2 GH02I032261 32261601 32266210 1.59 [{'connected_gene': 'NLRC4', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 20.97}, {'connected_gene': 'BIRC6', 'score': 16.91}, {'connected_gene': 'DDX50P1', 'score': 12.8}, {'connected_gene': 'TTC27', 'score': 11.55}, {'connected_gene': 'GC02M032177', 'score': 0.26}]
chr2 GH02I032425 32425267 32426890 0.58 [{'connected_gene': 'BIRC6', 'score': 11.15}, {'connected_gene': 'MIR558', 'score': 11.09}, {'connected_gene': 'TTC27', 'score': 6.11}, {'connected_gene': 'BIRC6-AS1', 'score': 0.25}, {'connected_gene': 'ENSG00000276334', 'score': 0.15}]
chr2 GH02I032288 32288202 32290600 1.07 [{'connected_gene': 'BIRC6', 'score': 29.2}, {'connected_gene': 'NLRC4', 'score': 16.74}, {'connected_gene': 'DDX50P1', 'score': 16.55}, {'connected_gene': 'TTC27', 'score': 15.83}, {'connected_gene': 'SLC30A6', 'score': 11.91}, {'connected_gene': 'YIPF4', 'score': 11.18}, {'connected_gene': 'RNU6-647P', 'score': 10.87}, {'connected_gene': 'MIR558', 'score': 9.72}, {'connected_gene': 'ENSG00000272754', 'score': 0.29}]
chr2 GH02I033299 33296754 33297418 0.49 [{'connected_gene': 'BIRC6', 'score': 22.06}, {'connected_gene': 'TTC27', 'score': 10.14}, {'connected_gene': 'RNA5SP91', 'score': 0.39}, {'connected_gene': 'GC02M033286', 'score': 0.39}, {'connected_gene': 'RNA5SP92', 'score': 0.28}, {'connected_gene': 'LTBP1', 'score': 0.05}]
chr2 GH02I032804 32804794 32805989 0.86 [{'connected_gene': 'BIRC6', 'score': 9.94}, {'connected_gene': 'LINC00486', 'score': 0.34}, {'connected_gene': 'GC02M032770', 'score': 0.29}, {'connected_gene': 'TTC27', 'score': 0.1}]
chr2 GH02I031983 31983556 31984691 0.52 [{'connected_gene': 'BIRC6', 'score': 19.83}, {'connected_gene': 'DDX50P1', 'score': 14.8}, {'connected_gene': 'TTC27', 'score': 11.13}, {'connected_gene': 'SLC30A6', 'score': 10.99}, {'connected_gene': 'MEMO1', 'score': 0.31}, {'connected_gene': 'GC02P031938', 'score': 0.25}, {'connected_gene': 'DPY30', 'score': 0.22}]
chr2 GH02I032164 32164460 32168155 2.11 [{'connected_gene': 'SLC30A6', 'score': 607.83}, {'connected_gene': 'ENSG00000272716', 'score': 559.1}, {'connected_gene': 'GC02M032166', 'score': 550.77}, {'connected_gene': 'BIRC6', 'score': 47.0}, {'connected_gene': 'DDX50P1', 'score': 32.71}, {'connected_gene': 'TTC27', 'score': 31.23}, {'connected_gene': 'RNU6-647P', 'score': 10.51}, {'connected_gene': 'NLRC4', 'score': 5.52}, {'connected_gene': 'GC02P032156', 'score': 0.39}]
chr2 GH02I032646 32646558 32647909 0.63 [{'connected_gene': 'TTC27', 'score': 22.03}, {'connected_gene': 'MIR558', 'score': 10.81}, {'connected_gene': 'BIRC6', 'score': 10.75}, {'connected_gene': 'MIR4765', 'score': 0.39}, {'connected_gene': 'GC02M032770', 'score': 0.13}]
chr2 GH02I032697 32697294 32697443 0.54 [{'connected_gene': 'TTC27', 'score': 10.7}, {'connected_gene': 'MIR558', 'score': 10.26}, {'connected_gene': 'BIRC6', 'score': 10.21}, {'connected_gene': 'MIR4765', 'score': 0.21}, {'connected_gene': 'GC02M032770', 'score': 0.18}]
chr2 GH02I032627 32627014 32629001 2.02 [{'connected_gene': 'TTC27', 'score': 560.89}, {'connected_gene': 'BIRC6', 'score': 22.1}, {'connected_gene': 'DDX50P1', 'score': 14.62}, {'connected_gene': 'SLC30A6', 'score': 14.04}, {'connected_gene': 'DPY30', 'score': 4.59}, {'connected_gene': 'GC02M032591', 'score': 0.28}]
chr2 GH02I032418 32418222 32419562 0.56 [{'connected_gene': 'TTC27', 'score': 5.3}, {'connected_gene': 'SLC30A6', 'score': 4.11}, {'connected_gene': 'BIRC6-AS1', 'score': 0.28}, {'connected_gene': 'BIRC6', 'score': 0.21}, {'connected_gene': 'ENSG00000276334', 'score': 0.15}]
chr2 GH02I032484 32484398 32486225 0.87 [{'connected_gene': 'TTC27', 'score': 4.41}, {'connected_gene': 'ENSG00000276334', 'score': 0.28}, {'connected_gene': 'BIRC6-AS1', 'score': 0.14}, {'connected_gene': 'BIRC6', 'score': 0.13}]
chr2 GH02I032824 32824716 32825487 0.7 [{'connected_gene': 'LINC00486', 'score': 550.77}, {'connected_gene': 'BIRC6', 'score': 18.05}, {'connected_gene': 'YIPF4', 'score': 11.69}, {'connected_gene': 'GC02M032770', 'score': 0.23}]
chr2 GH02I032478 32478601 32479687 0.2 [{'connected_gene': 'DDX50P1', 'score': 4.32}, {'connected_gene': 'ENSG00000276334', 'score': 0.26}, {'connected_gene': 'BIRC6-AS1', 'score': 0.15}, {'connected_gene': 'BIRC6', 'score': 0.13}]
chr2 GH02I032284 32284201 32284801 0.31 [{'connected_gene': 'RNU6-647P', 'score': 10.47}, {'connected_gene': 'BIRC6', 'score': 10.08}, {'connected_gene': 'TTC27', 'score': 4.75}, {'connected_gene': 'YIPF4', 'score': 0.44}, {'connected_gene': 'ENSG00000272754', 'score': 0.28}]
chr2 GH02I032421 32421201 32421400 0.43 [{'connected_gene': 'BIRC6-AS1', 'score': 0.26}, {'connected_gene': 'BIRC6', 'score': 0.21}, {'connected_gene': 'ENSG00000276334', 'score': 0.15}]
chr2 GH02I032368 32368000 32368401 0.31 [{'connected_gene': 'BIRC6-AS1', 'score': 0.39}, {'connected_gene': 'GC02M032356', 'score': 0.39}, {'connected_gene': 'BIRC6', 'score': 0.39}]
chr2 GH02I032591 32591401 32592978 1.05 [{'connected_gene': 'GC02M032591', 'score': 550.77}, {'connected_gene': 'DPY30', 'score': 4.47}, {'connected_gene': 'GC02P032585', 'score': 0.44}, {'connected_gene': 'BIRC6', 'score': 0.07}]
chr2 GH02I032355 32355852 32359624 2.09 [{'connected_gene': 'GC02M032356', 'score': 550.77}, {'connected_gene': 'BIRC6', 'score': 550.77}, {'connected_gene': 'DDX50P1', 'score': 10.23}, {'connected_gene': 'TTC27', 'score': 6.55}]
chr2 GH02I032553 32553954 32554103 0.59 [{'connected_gene': 'ENSG00000274159', 'score': 0.44}, {'connected_gene': 'ENSG00000279544', 'score': 0.44}, {'connected_gene': 'BIRC6', 'score': 0.08}]
chr2 GH02I032326 32326601 32326800 0.63 [{'connected_gene': 'ENSG00000272754', 'score': 0.44}, {'connected_gene': 'BIRC6', 'score': 0.29}]

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