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
ENST00000258770 [[45139698, 45140025], [45140856, 45140971], [45141101, 45141213], [45141423, 45141669], [45141945, 45142090], [45142931, 45143042], [45143697, 45143855], [45144136, 45144308], [45145039, 45145363], [45148425, 45148886], [45151241, 45151313]] [[45139923, 45140025], [45140856, 45140971], [45141101, 45141213], [45141423, 45141669], [45141945, 45142090], [45142931, 45143042], [45143697, 45143855], [45144136, 45144308], [45145039, 45145363], [45148425, 45148836]]
ENST00000361278 [[45139698, 45140025], [45140856, 45140971], [45141101, 45141213], [45141423, 45141669], [45141945, 45142090], [45142931, 45143042], [45145039, 45145363], [45148425, 45148886], [45151241, 45151317]] [[45139923, 45140025], [45140856, 45140971], [45141101, 45141213], [45141423, 45141669], [45141945, 45142090], [45142931, 45143042], [45145039, 45145363], [45148425, 45148836]]
ENST00000395655 [[45139698, 45140025], [45140856, 45140971], [45141101, 45141213], [45141423, 45141669], [45141945, 45142090], [45142931, 45143042], [45145039, 45145363], [45148425, 45148886], [45151262, 45151646]] [[45139923, 45140025], [45140856, 45140971], [45141101, 45141213], [45141423, 45141669], [45141945, 45142090], [45142931, 45143042], [45145039, 45145363], [45148425, 45148836]]
ENST00000495973 [[45139699, 45140025], [45140856, 45140971], [45141101, 45141213], [45141423, 45141669], [45141945, 45142090], [45142931, 45143042], [45143697, 45143855], [45144136, 45144308], [45145039, 45147063]] None
ENST00000494076 [[45139699, 45140025], [45140856, 45140971], [45141101, 45141213], [45141423, 45141669], [45141945, 45142090], [45142931, 45143042], [45143697, 45143855], [45144136, 45144308], [45145039, 45145363], [45148425, 45148842], [45151241, 45151305]] [[45139923, 45140025], [45140856, 45140971], [45141101, 45141213], [45141423, 45141669], [45141945, 45142090], [45142931, 45143042], [45143697, 45143855], [45144136, 45144308], [45145039, 45145363], [45148425, 45148836]]
ENST00000483615 [[45141101, 45141213], [45141423, 45141669], [45141879, 45142090], [45142931, 45143042], [45143697, 45143839]] [[45141101, 45141213], [45141423, 45141669], [45141879, 45142090], [45142931, 45143042], [45143697, 45143839]]
ENST00000482482 [[45141198, 45141213], [45141423, 45141669], [45141945, 45142170]] None
ENST00000478116 [[45141372, 45141669], [45141945, 45142289]] None
ENST00000488222 [[45142629, 45143042], [45143697, 45143855], [45144136, 45144308], [45145039, 45145268]] None
ENST00000484326 [[45143230, 45143855], [45144136, 45144308], [45145039, 45145077]] None
ENST00000478532 [[45143807, 45143855], [45144136, 45144308], [45145039, 45145363], [45148530, 45148886], [45151262, 45151307]] [[45143807, 45143855], [45144136, 45144308], [45145039, 45145363], [45148530, 45148836]]
ENST00000461363 [[45144136, 45144308], [45145039, 45145363], [45148425, 45148682], [45148821, 45148886], [45151241, 45151279]] [[45144136, 45144308], [45145039, 45145363], [45148425, 45148674]]
ENST00000477328 [[45144884, 45145363], [45148425, 45148542]] None
ENST00000471142 [[45147349, 45147377], [45148425, 45148886], [45151241, 45151296]] None
ENST00000475893 [[45148452, 45148886], [45151475, 45151620]] [[45148452, 45148836]]
ENST00000482285 [[45148482, 45148886], [45150974, 45151100]] [[45148482, 45148836]]
ENST00000495078 [[45148526, 45148886], [45150343, 45150476], [45151241, 45151296]] [[45148526, 45148836]]
NM_004749 [[45139698, 45140025], [45140856, 45140971], [45141101, 45141213], [45141423, 45141669], [45141945, 45142090], [45142931, 45143042], [45143697, 45143855], [45144136, 45144308], [45145039, 45145363], [45148425, 45148886], [45151241, 45151346]] [[45139923, 45140025], [45140856, 45140971], [45141101, 45141213], [45141423, 45141669], [45141945, 45142090], [45142931, 45143042], [45143697, 45143855], [45144136, 45144308], [45145039, 45145363], [45148425, 45148836]]
NM_030900 [[45139698, 45140025], [45140856, 45140971], [45141101, 45141213], [45141423, 45141669], [45141945, 45142090], [45142931, 45143042], [45145039, 45145363], [45148425, 45148886], [45151241, 45151346]] [[45139923, 45140025], [45140856, 45140971], [45141101, 45141213], [45141423, 45141669], [45141945, 45142090], [45142931, 45143042], [45145039, 45145363], [45148425, 45148836]]
NM_001261834 [[45139698, 45140025], [45140856, 45140971], [45141101, 45141213], [45141423, 45141669], [45141945, 45142090], [45142931, 45143042], [45143697, 45143855], [45144136, 45144308], [45145039, 45145363], [45148425, 45148842], [45151241, 45151346]] [[45139923, 45140025], [45140856, 45140971], [45141101, 45141213], [45141423, 45141669], [45141945, 45142090], [45142931, 45143042], [45143697, 45143855], [45144136, 45144308], [45145039, 45145363], [45148425, 45148842], [45151241, 45151268]]
NM_199122 [[45139698, 45140025], [45140856, 45140971], [45141101, 45141213], [45141423, 45141669], [45141945, 45142090], [45142931, 45143042], [45145039, 45145363], [45148425, 45148886], [45151262, 45151346]] [[45139923, 45140025], [45140856, 45140971], [45141101, 45141213], [45141423, 45141669], [45141945, 45142090], [45142931, 45143042], [45145039, 45145363], [45148425, 45148836]]
Promoter
Chrom Start End Description
chr7 45151272 45151332 CAGE_peak_1_at_TBRG4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I044815 44815734 44815817 0.23 [{'connected_gene': 'H2AFV', 'score': 13.38}, {'connected_gene': 'LINC01952', 'score': 12.25}, {'connected_gene': 'ENSG00000228596', 'score': 12.17}, {'connected_gene': 'MYO1G', 'score': 10.66}, {'connected_gene': 'TBRG4', 'score': 1.3}, {'connected_gene': 'LOC105375260', 'score': 0.44}, {'connected_gene': 'GC07P044796', 'score': 0.37}, {'connected_gene': 'PPIA', 'score': 0.37}, {'connected_gene': 'GC07P044797', 'score': 0.37}]
chr7 GH07I045122 45122255 45124336 0.2 [{'connected_gene': 'TBRG4', 'score': 11.48}, {'connected_gene': 'CCM2', 'score': 10.84}, {'connected_gene': 'ENSG00000260997', 'score': 10.64}, {'connected_gene': 'SNHG15', 'score': 7.74}, {'connected_gene': 'RAMP3', 'score': 0.29}, {'connected_gene': 'GC07P045063', 'score': 0.21}]
chr7 GH07I045479 45479015 45479352 0.22 [{'connected_gene': 'TBRG4', 'score': 7.1}, {'connected_gene': 'CCM2', 'score': 1.46}, {'connected_gene': 'GC07M045490', 'score': 0.39}, {'connected_gene': 'ENSG00000225537', 'score': 0.37}]
chr7 GH07I045108 45108918 45112951 2.1 [{'connected_gene': 'TBRG4', 'score': 565.69}, {'connected_gene': 'SNHG15', 'score': 20.06}, {'connected_gene': 'NACAD', 'score': 16.9}, {'connected_gene': 'CCM2', 'score': 16.63}, {'connected_gene': 'RAMP3', 'score': 12.04}, {'connected_gene': 'SNORA5B', 'score': 0.77}, {'connected_gene': 'GC07P045063', 'score': 0.25}]
chr7 GH07I045135 45135982 45136131 0.7 [{'connected_gene': 'TBRG4', 'score': 0.34}, {'connected_gene': 'RAMP3', 'score': 0.34}, {'connected_gene': 'GC07P045063', 'score': 0.19}]
chr7 GH07I045071 45071956 45077421 0.65 [{'connected_gene': 'CCM2', 'score': 34.89}, {'connected_gene': 'TBRG4', 'score': 22.73}, {'connected_gene': 'ENSG00000260997', 'score': 17.7}, {'connected_gene': 'SNORA5A', 'score': 12.13}, {'connected_gene': 'SNORA5B', 'score': 12.11}, {'connected_gene': 'SNORA5C', 'score': 12.11}, {'connected_gene': 'SNHG15', 'score': 8.87}, {'connected_gene': 'NACAD', 'score': 0.39}, {'connected_gene': 'GC07P045063', 'score': 0.39}]
chr7 GH07I045079 45079686 45083824 0.49 [{'connected_gene': 'CCM2', 'score': 23.39}, {'connected_gene': 'ENSG00000260997', 'score': 19.7}, {'connected_gene': 'NACAD', 'score': 9.96}, {'connected_gene': 'TBRG4', 'score': 9.41}, {'connected_gene': 'SNHG15', 'score': 9.09}, {'connected_gene': 'GC07P045063', 'score': 0.37}]
chr7 GH07I044997 44997963 45002495 2.5 [{'connected_gene': 'CCM2', 'score': 563.25}, {'connected_gene': 'LOC102723334', 'score': 550.77}, {'connected_gene': 'SNORA5C', 'score': 17.04}, {'connected_gene': 'POLM', 'score': 16.72}, {'connected_gene': 'ENSG00000260997', 'score': 15.92}, {'connected_gene': 'DDX56', 'score': 13.88}, {'connected_gene': 'SNORA5A', 'score': 11.63}, {'connected_gene': 'SNORA5B', 'score': 11.3}, {'connected_gene': 'ENSG00000228434', 'score': 11.29}, {'connected_gene': 'SNHG15', 'score': 10.63}, {'connected_gene': 'TMED4', 'score': 10.44}, {'connected_gene': 'TBRG4', 'score': 10.21}, {'connected_gene': 'CICP20', 'score': 9.83}, {'connected_gene': 'PURB', 'score': 5.74}, {'connected_gene': 'MYO1G', 'score': 1.87}, {'connected_gene': 'OGDH', 'score': 1.61}, {'connected_gene': 'GC07M045025', 'score': 0.29}]
chr7 GH07I044989 44989456 44992217 1.29 [{'connected_gene': 'CCM2', 'score': 19.28}, {'connected_gene': 'ENSG00000260997', 'score': 15.92}, {'connected_gene': 'CICP20', 'score': 14.57}, {'connected_gene': 'DDX56', 'score': 12.8}, {'connected_gene': 'TMED4', 'score': 12.37}, {'connected_gene': 'SNORA5B', 'score': 11.12}, {'connected_gene': 'SNORA5C', 'score': 10.88}, {'connected_gene': 'TBRG4', 'score': 5.54}, {'connected_gene': 'LINC00957', 'score': 5.52}, {'connected_gene': 'SNHG15', 'score': 0.77}]
chr7 GH07I044795 44795369 44799513 2.1 [{'connected_gene': 'PPIA', 'score': 559.23}, {'connected_gene': 'GC07P044796', 'score': 550.77}, {'connected_gene': 'LOC105375259', 'score': 550.77}, {'connected_gene': 'GC07P044797', 'score': 550.77}, {'connected_gene': 'SEPT7P2', 'score': 28.27}, {'connected_gene': 'SNORA5C', 'score': 27.21}, {'connected_gene': 'POLM', 'score': 25.78}, {'connected_gene': 'DDX56', 'score': 23.65}, {'connected_gene': 'SNORA5B', 'score': 21.07}, {'connected_gene': 'ENSG00000228434', 'score': 19.42}, {'connected_gene': 'ZMIZ2', 'score': 19.14}, {'connected_gene': 'TBRG4', 'score': 18.44}, {'connected_gene': 'SPDYE1', 'score': 18.33}, {'connected_gene': 'H2AFV', 'score': 18.19}, {'connected_gene': 'LINC01952', 'score': 11.8}, {'connected_gene': 'SNORA5A', 'score': 11.54}, {'connected_gene': 'URGCP', 'score': 10.78}, {'connected_gene': 'TMED4', 'score': 10.48}, {'connected_gene': 'MYO1G', 'score': 10.48}, {'connected_gene': 'SNHG15', 'score': 9.72}, {'connected_gene': 'LOC105375260', 'score': 0.34}]
chr7 GH07I044121 44121323 44124756 2.04 [{'connected_gene': 'POLD2', 'score': 550.77}, {'connected_gene': 'POLM', 'score': 32.92}, {'connected_gene': 'TMED4', 'score': 32.88}, {'connected_gene': 'SPDYE1', 'score': 30.09}, {'connected_gene': 'SNORA5B', 'score': 29.27}, {'connected_gene': 'ENSG00000228434', 'score': 28.81}, {'connected_gene': 'DDX56', 'score': 28.48}, {'connected_gene': 'SNORA5C', 'score': 26.14}, {'connected_gene': 'TBRG4', 'score': 18.87}, {'connected_gene': 'TUBG1P', 'score': 15.42}, {'connected_gene': 'URGCP', 'score': 11.83}, {'connected_gene': 'SNORA5A', 'score': 11.44}, {'connected_gene': 'SNHG15', 'score': 10.69}, {'connected_gene': 'NACAD', 'score': 9.84}, {'connected_gene': 'GCK', 'score': 7.72}, {'connected_gene': 'RASA4CP', 'score': 4.39}, {'connected_gene': 'MIR4649', 'score': 0.39}]
chr7 GH07I044605 44605365 44609696 2.49 [{'connected_gene': 'OGDH', 'score': 550.77}, {'connected_gene': 'SPDYE1', 'score': 41.47}, {'connected_gene': 'ENSG00000228434', 'score': 19.41}, {'connected_gene': 'ENSG00000228596', 'score': 11.51}, {'connected_gene': 'SNHG15', 'score': 10.72}, {'connected_gene': 'TBRG4', 'score': 10.01}, {'connected_gene': 'DDX56', 'score': 7.97}, {'connected_gene': 'NUDCD3', 'score': 5.22}, {'connected_gene': 'GC07M044657', 'score': 0.15}]
chr7 GH07I045136 45136202 45137450 0.79 [{'connected_gene': 'SNHG15', 'score': 6.81}, {'connected_gene': 'TBRG4', 'score': 6.34}, {'connected_gene': 'RAMP3', 'score': 0.34}, {'connected_gene': 'GC07P045063', 'score': 0.19}]
chr7 GH07I044983 44983027 44988251 1.77 [{'connected_gene': 'SNHG15', 'score': 579.1}, {'connected_gene': 'SNORA9', 'score': 550.77}, {'connected_gene': 'GC07M044985', 'score': 550.77}, {'connected_gene': 'DDX56', 'score': 25.85}, {'connected_gene': 'CCM2', 'score': 21.07}, {'connected_gene': 'POLM', 'score': 19.18}, {'connected_gene': 'SNORA5C', 'score': 18.23}, {'connected_gene': 'ENSG00000260997', 'score': 15.93}, {'connected_gene': 'TMED4', 'score': 14.8}, {'connected_gene': 'SNORA5A', 'score': 12.01}, {'connected_gene': 'SNORA5B', 'score': 11.55}, {'connected_gene': 'CICP20', 'score': 10.86}, {'connected_gene': 'RAMP3', 'score': 10.82}, {'connected_gene': 'ENSG00000228434', 'score': 10.52}, {'connected_gene': 'TBRG4', 'score': 5.1}]
chr7 GH07I045087 45087752 45090172 2.29 [{'connected_gene': 'NACAD', 'score': 568.93}, {'connected_gene': 'TBRG4', 'score': 13.97}, {'connected_gene': 'ADCY1', 'score': 1.51}, {'connected_gene': 'GC07M045104', 'score': 0.37}, {'connected_gene': 'GC07M045154', 'score': 0.37}, {'connected_gene': 'SNORA5A', 'score': 0.37}, {'connected_gene': 'GC07M045141', 'score': 0.37}, {'connected_gene': 'PIR44785', 'score': 0.37}, {'connected_gene': 'GC07P045063', 'score': 0.31}]
chr7 GH07I044845 44845500 44849667 2.12 [{'connected_gene': 'LINC01952', 'score': 550.77}, {'connected_gene': 'H2AFV', 'score': 550.77}, {'connected_gene': 'CICP20', 'score': 68.11}, {'connected_gene': 'DDX56', 'score': 46.55}, {'connected_gene': 'SNORA5C', 'score': 41.11}, {'connected_gene': 'POLM', 'score': 39.05}, {'connected_gene': 'SNORA5B', 'score': 32.01}, {'connected_gene': 'ENSG00000228434', 'score': 29.96}, {'connected_gene': 'SPDYE1', 'score': 28.7}, {'connected_gene': 'TMED4', 'score': 22.39}, {'connected_gene': 'SNHG15', 'score': 20.77}, {'connected_gene': 'SNORA5A', 'score': 20.11}, {'connected_gene': 'TBRG4', 'score': 18.45}, {'connected_gene': 'URGCP', 'score': 12.0}, {'connected_gene': 'SEPT7P2', 'score': 10.15}, {'connected_gene': 'PURB', 'score': 10.04}, {'connected_gene': 'PPIA', 'score': 7.12}, {'connected_gene': 'ZMIZ2', 'score': 5.98}, {'connected_gene': 'PIR39901', 'score': 0.37}]
chr7 GH07I045154 45154722 45154891 0.77 [{'connected_gene': 'RAMP3', 'score': 0.77}, {'connected_gene': 'TBRG4', 'score': 0.26}, {'connected_gene': 'GC07P045063', 'score': 0.16}]

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