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
ENST00000380249 [[20658307, 20658458], [20658689, 20658825], [20694518, 20694563], [20715320, 20715409], [20717792, 20717867], [20720378, 20720533], [20740234, 20740339], [20758088, 20758190], [20764867, 20765072], [20770030, 20770237], [20778679, 20778767], [20781725, 20781928], [20789349, 20789607], [20819794, 20819899], [20820322, 20820424], [20820939, 20821070], [20822987, 20823114], [20862576, 20862711], [20865924, 20865975], [20866927, 20867011], [20874679, 20874806], [20881869, 20882055], [20885107, 20885229], [20907148, 20907241], [20912864, 20912953], [20916891, 20916936], [20923658, 20923767], [20926299, 20926416], [20929356, 20929595], [20933012, 20933102], [20944625, 20944773], [20946699, 20946819], [20948269, 20948392], [20948849, 20948927], [20949602, 20949674], [20950994, 20951097], [20952983, 20953064], [20976418, 20976547], [20978337, 20978453], [20981424, 20981685], [20982355, 20982445], [20986286, 20986464], [20988330, 20988428], [20990121, 20990373], [20993251, 20993327], [20995554, 20995954]] [[20715352, 20715409], [20717792, 20717867], [20720378, 20720533], [20740234, 20740339], [20758088, 20758190], [20764867, 20765072], [20770030, 20770237], [20778679, 20778767], [20781725, 20781928], [20789349, 20789607], [20819794, 20819899], [20820322, 20820424], [20820939, 20821070], [20822987, 20823114], [20862576, 20862711], [20865924, 20865975], [20866927, 20867011], [20874679, 20874806], [20881869, 20882055], [20885107, 20885229], [20907148, 20907241], [20912864, 20912953], [20916891, 20916936], [20923658, 20923767], [20926299, 20926416], [20929356, 20929595], [20933012, 20933102], [20944625, 20944773], [20946699, 20946819], [20948269, 20948392], [20948849, 20948927], [20949602, 20949674], [20950994, 20951097], [20952983, 20953064], [20976418, 20976547], [20978337, 20978453], [20981424, 20981685], [20982355, 20982445], [20986286, 20986464], [20988330, 20988428], [20990121, 20990373], [20993251, 20993327], [20995554, 20995628]]
ENST00000338382 [[20715352, 20715409], [20717792, 20717867], [20720378, 20720533], [20740234, 20740339], [20758088, 20758190], [20764867, 20765072], [20770030, 20770237], [20778679, 20778767], [20781725, 20781928], [20789349, 20789607], [20819794, 20819899], [20820322, 20820424], [20820939, 20821070], [20822987, 20823114], [20862576, 20862711], [20865924, 20865975], [20866927, 20867011], [20874679, 20874806], [20881869, 20882055], [20885107, 20885229], [20907148, 20907241], [20912864, 20912953], [20916891, 20916936], [20923658, 20923767], [20926299, 20926416], [20929356, 20929595], [20933012, 20933102], [20944625, 20944773], [20946699, 20946819], [20948269, 20948392], [20948849, 20948927], [20949602, 20949674], [20950994, 20951097], [20952983, 20953064], [20976418, 20976547], [20978337, 20978453], [20981424, 20981685], [20982355, 20982445], [20986286, 20986464], [20988330, 20988428], [20990121, 20990373], [20993251, 20993327], [20995554, 20995947]] [[20715352, 20715409], [20717792, 20717867], [20720378, 20720533], [20740234, 20740339], [20758088, 20758190], [20764867, 20765072], [20770030, 20770237], [20778679, 20778767], [20781725, 20781928], [20789349, 20789607], [20819794, 20819899], [20820322, 20820424], [20820939, 20821070], [20822987, 20823114], [20862576, 20862711], [20865924, 20865975], [20866927, 20867011], [20874679, 20874806], [20881869, 20882055], [20885107, 20885229], [20907148, 20907241], [20912864, 20912953], [20916891, 20916936], [20923658, 20923767], [20926299, 20926416], [20929356, 20929595], [20933012, 20933102], [20944625, 20944773], [20946699, 20946819], [20948269, 20948392], [20948849, 20948927], [20949602, 20949674], [20950994, 20951097], [20952983, 20953064], [20976418, 20976547], [20978337, 20978453], [20981424, 20981685], [20982355, 20982445], [20986286, 20986464], [20988330, 20988428], [20990121, 20990373], [20993251, 20993327], [20995554, 20995628]]
ENST00000605086 [[20820292, 20820424], [20820939, 20821070], [20822987, 20823114], [20862576, 20862711], [20865924, 20865975], [20866927, 20867011], [20874679, 20874806], [20881869, 20882055], [20885107, 20885229], [20907148, 20907241], [20912864, 20912953], [20916891, 20916936], [20923658, 20923767], [20926299, 20926416], [20929356, 20929595], [20933012, 20933102], [20944625, 20944773], [20946699, 20946819], [20948269, 20948392], [20948849, 20948927], [20949602, 20949674], [20950994, 20951097], [20952983, 20953064], [20976418, 20976547], [20978337, 20978453], [20981424, 20981685], [20982355, 20982445], [20986286, 20986464], [20988330, 20988428], [20990121, 20990373], [20993251, 20993327], [20995554, 20995947]] [[20820969, 20821070], [20822987, 20823114], [20862576, 20862711], [20865924, 20865975], [20866927, 20867011], [20874679, 20874806], [20881869, 20882055], [20885107, 20885229], [20907148, 20907241], [20912864, 20912953], [20916891, 20916936], [20923658, 20923767], [20926299, 20926416], [20929356, 20929595], [20933012, 20933102], [20944625, 20944773], [20946699, 20946819], [20948269, 20948392], [20948849, 20948927], [20949602, 20949674], [20950994, 20951097], [20952983, 20953064], [20976418, 20976547], [20978337, 20978453], [20981424, 20981685], [20982355, 20982445], [20986286, 20986464], [20988330, 20988428], [20990121, 20990373], [20993251, 20993327], [20995554, 20995628]]
ENST00000603631 [[20952418, 20952514], [20952983, 20953064], [20957500, 20957616], [20976320, 20976547], [20978337, 20978453], [20981424, 20981460]] None
ENST00000604036 [[20683976, 20684292], [20715320, 20715409], [20717792, 20717867], [20720378, 20720420]] None
ENST00000603648 [[20820387, 20820424], [20820939, 20821060], [20822987, 20823114], [20862576, 20862711], [20863419, 20863549], [20865924, 20865966]] [[20820969, 20821060], [20822987, 20823037]]
ENST00000603844 [[20822991, 20823114], [20862576, 20863146]] None
ENST00000605031 [[20726284, 20726347], [20740234, 20740339], [20758088, 20758190], [20764867, 20765072], [20770030, 20770111]] None
ENST00000604103 [[20726349, 20726431], [20740234, 20740339], [20758088, 20758190], [20764872, 20765072], [20770030, 20770132]] None
ENST00000603492 [[20789332, 20789607], [20820322, 20820424], [20820939, 20821070], [20822987, 20823048]] None
ENST00000605852 [[20872805, 20872871], [20874679, 20874806], [20881869, 20882055], [20885107, 20885229], [20907148, 20907201]] None
ENST00000604828 [[20873841, 20875814]] None
ENST00000603552 [[20881904, 20882055], [20885145, 20885528]] None
ENST00000603610 [[20896969, 20897047], [20907148, 20907241], [20912864, 20912907]] None
ENST00000603044 [[20927763, 20927890], [20929356, 20929595], [20933012, 20933102], [20944625, 20944773], [20946699, 20946730]] [[20929479, 20929595], [20933012, 20933102], [20944625, 20944773], [20946699, 20946730]]
ENST00000604254 [[20927800, 20927890], [20933012, 20933102], [20944625, 20944773], [20946699, 20946819], [20948269, 20948393]] [[20927831, 20927890], [20933012, 20933102], [20944625, 20944773], [20946699, 20946819], [20948269, 20948393]]
ENST00000603695 [[20928942, 20929081], [20929356, 20929595], [20933012, 20933102], [20944625, 20944716]] [[20929479, 20929595], [20933012, 20933102], [20944625, 20944716]]
NM_017794 [[20658307, 20658458], [20658689, 20658825], [20694518, 20694563], [20715320, 20715409], [20717792, 20717867], [20720378, 20720533], [20740234, 20740339], [20758088, 20758190], [20764867, 20765072], [20770030, 20770237], [20778679, 20778767], [20781725, 20781928], [20789349, 20789607], [20819794, 20819899], [20820322, 20820424], [20820939, 20821070], [20822987, 20823114], [20862576, 20862711], [20865924, 20865975], [20866927, 20867011], [20874679, 20874806], [20881869, 20882055], [20885107, 20885229], [20907148, 20907241], [20912864, 20912953], [20916891, 20916936], [20923658, 20923767], [20926299, 20926416], [20929356, 20929595], [20933012, 20933102], [20944625, 20944773], [20946699, 20946819], [20948269, 20948392], [20948849, 20948927], [20949602, 20949674], [20950994, 20951097], [20952983, 20953064], [20976418, 20976547], [20978337, 20978453], [20981424, 20981685], [20982355, 20982445], [20986286, 20986464], [20988330, 20988428], [20990121, 20990373], [20993251, 20993327], [20995554, 20995954]] [[20715352, 20715409], [20717792, 20717867], [20720378, 20720533], [20740234, 20740339], [20758088, 20758190], [20764867, 20765072], [20770030, 20770237], [20778679, 20778767], [20781725, 20781928], [20789349, 20789607], [20819794, 20819899], [20820322, 20820424], [20820939, 20821070], [20822987, 20823114], [20862576, 20862711], [20865924, 20865975], [20866927, 20867011], [20874679, 20874806], [20881869, 20882055], [20885107, 20885229], [20907148, 20907241], [20912864, 20912953], [20916891, 20916936], [20923658, 20923767], [20926299, 20926416], [20929356, 20929595], [20933012, 20933102], [20944625, 20944773], [20946699, 20946819], [20948269, 20948392], [20948849, 20948927], [20949602, 20949674], [20950994, 20951097], [20952983, 20953064], [20976418, 20976547], [20978337, 20978453], [20981424, 20981685], [20982355, 20982445], [20986286, 20986464], [20988330, 20988428], [20990121, 20990373], [20993251, 20993327], [20995554, 20995628]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I020759 20759800 20760955 0.52 [{'connected_gene': 'MIR491', 'score': 11.57}, {'connected_gene': 'FOCAD', 'score': 11.45}, {'connected_gene': 'HACD4', 'score': 5.7}, {'connected_gene': 'GC09P020787', 'score': 0.31}]
chr9 GH09I020853 20853958 20854051 0.2 [{'connected_gene': 'MIR491', 'score': 10.28}, {'connected_gene': 'FOCAD', 'score': 10.25}, {'connected_gene': 'SNORA30B', 'score': 0.2}, {'connected_gene': 'LOC105375989', 'score': 0.1}]
chr9 GH09I020854 20854602 20854751 0.2 [{'connected_gene': 'MIR491', 'score': 9.98}, {'connected_gene': 'FOCAD', 'score': 9.94}, {'connected_gene': 'SNORA30B', 'score': 0.2}, {'connected_gene': 'LOC105375989', 'score': 0.1}]
chr9 GH09I020640 20640042 20641221 1.06 [{'connected_gene': 'MIR491', 'score': 10.1}, {'connected_gene': 'MLLT3', 'score': 0.37}, {'connected_gene': 'FOCAD', 'score': 0.37}]
chr9 GH09I020634 20634362 20634511 0.46 [{'connected_gene': 'FOCAD', 'score': 11.91}, {'connected_gene': 'MIR491', 'score': 10.23}, {'connected_gene': 'MLLT3', 'score': 0.39}]
chr9 GH09I020872 20872400 20873636 0.69 [{'connected_gene': 'FOCAD', 'score': 10.87}, {'connected_gene': 'MIR491', 'score': 10.07}, {'connected_gene': 'HACD4', 'score': 5.71}, {'connected_gene': 'SNORA30B', 'score': 0.17}, {'connected_gene': 'LOC105375989', 'score': 0.1}]
chr9 GH09I020825 20825146 20826062 0.2 [{'connected_gene': 'FOCAD', 'score': 15.93}, {'connected_gene': 'MIR491', 'score': 10.58}, {'connected_gene': 'SNORA30B', 'score': 0.28}, {'connected_gene': 'LOC105375989', 'score': 0.08}]
chr9 GH09I020678 20678462 20679489 0.6 [{'connected_gene': 'FOCAD', 'score': 12.15}, {'connected_gene': 'MIR491', 'score': 11.08}, {'connected_gene': 'FOCAD-AS1', 'score': 6.28}]
chr9 GH09I020731 20731373 20733310 0.52 [{'connected_gene': 'FOCAD', 'score': 11.23}, {'connected_gene': 'MIR491', 'score': 0.37}, {'connected_gene': 'GC09P020787', 'score': 0.23}]
chr9 GH09I021573 21573873 21593957 1.56 [{'connected_gene': 'FOCAD', 'score': 11.18}, {'connected_gene': 'MIR31', 'score': 10.42}, {'connected_gene': 'IFNW1', 'score': 3.81}, {'connected_gene': 'IFNA1', 'score': 1.86}, {'connected_gene': 'IFNA6', 'score': 1.63}, {'connected_gene': 'MIR31HG', 'score': 0.34}, {'connected_gene': 'ENSG00000227443', 'score': 0.23}]
chr9 GH09I020682 20682920 20686304 1.98 [{'connected_gene': 'FOCAD', 'score': 561.81}, {'connected_gene': 'FOCAD-AS1', 'score': 556.67}, {'connected_gene': 'MIR491', 'score': 11.51}]
chr9 GH09I020658 20658201 20659401 1.85 [{'connected_gene': 'FOCAD', 'score': 550.77}, {'connected_gene': 'FOCAD-AS1', 'score': 0.31}]
chr9 GH09I020660 20660201 20660400 0.2 [{'connected_gene': 'FOCAD', 'score': 550.77}, {'connected_gene': 'FOCAD-AS1', 'score': 0.34}]
chr9 GH09I020619 20619752 20625051 1.99 [{'connected_gene': 'MLLT3', 'score': 556.39}, {'connected_gene': 'KLHL9', 'score': 23.36}, {'connected_gene': 'FOCAD', 'score': 11.63}, {'connected_gene': 'IFNA20P', 'score': 10.09}, {'connected_gene': 'RPL7AP48', 'score': 0.17}]
chr9 GH09I020557 20557904 20559589 0.89 [{'connected_gene': 'MLLT3', 'score': 12.23}, {'connected_gene': 'FOCAD', 'score': 10.51}, {'connected_gene': 'MIR491', 'score': 9.89}, {'connected_gene': 'RPL7AP48', 'score': 0.31}]
chr9 GH09I020610 20610510 20612618 1.07 [{'connected_gene': 'MLLT3', 'score': 12.96}, {'connected_gene': 'FOCAD', 'score': 10.47}, {'connected_gene': 'RPL7AP48', 'score': 0.18}]
chr9 GH09I021094 21094435 21097558 1.16 [{'connected_gene': 'HACD4', 'score': 20.75}, {'connected_gene': 'FOCAD', 'score': 2.83}, {'connected_gene': 'GC09P021108', 'score': 0.39}, {'connected_gene': 'IFNWP4', 'score': 0.39}, {'connected_gene': 'IFNB1', 'score': 0.37}]
chr9 GH09I020941 20941001 20941401 0.91 [{'connected_gene': 'HACD4', 'score': 12.3}, {'connected_gene': 'MLLT3', 'score': 11.04}, {'connected_gene': 'FOCAD', 'score': 10.8}, {'connected_gene': 'LOC105375989', 'score': 0.17}, {'connected_gene': 'SNORA30B', 'score': 0.1}]
chr9 GH09I020962 20962310 20963422 0.2 [{'connected_gene': 'HACD4', 'score': 10.96}, {'connected_gene': 'LOC105375989', 'score': 0.2}, {'connected_gene': 'SNORA30B', 'score': 0.1}, {'connected_gene': 'FOCAD', 'score': 0.06}]
chr9 GH09I020980 20980533 20982439 0.82 [{'connected_gene': 'HACD4', 'score': 28.12}, {'connected_gene': 'LOC105375989', 'score': 0.25}, {'connected_gene': 'SNORA30B', 'score': 0.08}, {'connected_gene': 'FOCAD', 'score': 0.05}]
chr9 GH09I020973 20973232 20975098 0.43 [{'connected_gene': 'HACD4', 'score': 13.98}, {'connected_gene': 'LOC105375989', 'score': 0.22}, {'connected_gene': 'SNORA30B', 'score': 0.09}, {'connected_gene': 'FOCAD', 'score': 0.06}]
chr9 GH09I020784 20784778 20784886 0.22 [{'connected_gene': 'IFNW1', 'score': 16.42}, {'connected_gene': 'MIR491', 'score': 10.88}, {'connected_gene': 'FOCAD', 'score': 10.8}, {'connected_gene': 'GC09P020787', 'score': 0.77}]
chr9 GH09I020821 20821675 20822014 0.22 [{'connected_gene': 'IFNA5', 'score': 14.18}, {'connected_gene': 'IFNA21', 'score': 6.33}, {'connected_gene': 'SNORA30B', 'score': 0.29}, {'connected_gene': 'FOCAD', 'score': 0.1}, {'connected_gene': 'LOC105375989', 'score': 0.08}]
chr9 GH09I020835 20835393 20836364 0.85 [{'connected_gene': 'SNORA30B', 'score': 0.25}, {'connected_gene': 'FOCAD', 'score': 0.1}, {'connected_gene': 'LOC105375989', 'score': 0.08}]
chr9 GH09I020989 20989853 20991294 0.58 [{'connected_gene': 'LOC105375989', 'score': 0.28}, {'connected_gene': 'SNORA30B', 'score': 0.08}, {'connected_gene': 'FOCAD', 'score': 0.06}]
chr9 GH09I020945 20945442 20945591 0.31 [{'connected_gene': 'LOC105375989', 'score': 0.18}, {'connected_gene': 'SNORA30B', 'score': 0.1}, {'connected_gene': 'FOCAD', 'score': 0.06}]

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