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
ENST00000392365 [[188328956, 188331769], [188332479, 188332659], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368497], [188378342, 188378368]] [[188331662, 188331769], [188332479, 188332659], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368495]]
ENST00000233156 [[188328959, 188331769], [188332479, 188332659], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368497], [188418926, 188419219]] [[188331662, 188331769], [188332479, 188332659], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368495]]
ENST00000426055 [[188331711, 188331769], [188332479, 188332659], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368497], [188418926, 188419219]] [[188331711, 188331769], [188332479, 188332659], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368495]]
ENST00000481132 [[188331728, 188331769], [188332479, 188332659], [188348850, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368497], [188378342, 188384587]] None
ENST00000435414 [[188332601, 188332659], [188348850, 188348943], [188349537, 188349714], [188361607, 188361805], [188368374, 188368497], [188378342, 188378380]] [[188332601, 188332659], [188348850, 188348943], [188349537, 188349714], [188361607, 188361805], [188368374, 188368495]]
ENST00000409676 [[188343304, 188343530], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368497], [188378342, 188378373], [188418926, 188419158]] [[188343402, 188343530], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368495]]
ENST00000339091 [[188343311, 188343530], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368497], [188418926, 188419165]] [[188343402, 188343530], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368495]]
ENST00000481389 [[188348656, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361703]] None
ENST00000437725 [[188361607, 188361805], [188368374, 188368497], [188385268, 188385340], [188418926, 188419078]] [[188361607, 188361805], [188368374, 188368495]]
ENST00000421427 [[188361607, 188361805], [188368374, 188368497], [188394090, 188394212], [188418926, 188419076], [188430276, 188430487]] [[188361607, 188361805], [188368374, 188368495]]
ENST00000453013 [[188361610, 188361805], [188368374, 188368497], [188394090, 188394212], [188418926, 188419219]] [[188361610, 188361805], [188368374, 188368495]]
ENST00000417013 [[188361698, 188361805], [188368374, 188368497], [188378342, 188378373], [188418926, 188419219]] [[188361698, 188361805], [188368374, 188368495]]
ENST00000420747 [[188361742, 188361805], [188368374, 188368497], [188378342, 188378373], [188385268, 188385340], [188409230, 188409364], [188418926, 188419188]] [[188361742, 188361805], [188368374, 188368495]]
NM_001329239 [[188328956, 188331769], [188332479, 188332659], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368497], [188378342, 188378373], [188394090, 188394212], [188418926, 188419232]] [[188331662, 188331769], [188332479, 188332659], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368495]]
NM_001329241 [[188328956, 188331769], [188332479, 188332659], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368497], [188394090, 188394212], [188418926, 188419232]] [[188331662, 188331769], [188332479, 188332659], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368495]]
NM_001329240 [[188328956, 188331769], [188332479, 188332659], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368497], [188378342, 188378373], [188418926, 188419232]] [[188331662, 188331769], [188332479, 188332659], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368495]]
NM_006287 [[188328956, 188331769], [188332479, 188332659], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368497], [188418926, 188419232]] [[188331662, 188331769], [188332479, 188332659], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368495]]
NM_001318941 [[188343304, 188343530], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368497], [188378342, 188378373], [188418926, 188419232]] [[188343402, 188343530], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368495]]
NM_001032281 [[188343304, 188343530], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368497], [188418926, 188419232]] [[188343402, 188343530], [188348850, 188348943], [188349537, 188349714], [188353063, 188353102], [188361607, 188361805], [188368374, 188368495]]
Promoter
Chrom Start End Description
chr2 188330292 188330295 CAGE_peak_5_at_TFPI_5end
chr2 188330328 188330357 CAGE_peak_8_at_TFPI_5end
chr2 188330402 188330457 CAGE_peak_7_at_TFPI_5end
chr2 188330513 188330524 CAGE_peak_21_at_TFPI_5end
chr2 188330527 188330548 CAGE_peak_17_at_TFPI_5end
chr2 188330646 188330688 CAGE_peak_4_at_TFPI_5end
chr2 188330716 188330728 CAGE_peak_9_at_TFPI_5end
chr2 188330885 188330910 CAGE_peak_6_at_TFPI_5end
chr2 188331084 188331129 CAGE_peak_15_at_TFPI_5end
chr2 188368452 188368465 CAGE_peak_13_at_TFPI_5end
chr2 188378374 188378387 CAGE_peak_3_at_TFPI_5end
chr2 188419155 188419195 CAGE_peak_1_at_TFPI_5end
chr2 188419200 188419224 CAGE_peak_2_at_TFPI_5end
chr2 188430478 188430496 CAGE_peak_16_at_TFPI_5end
chr2 188430524 188430535 CAGE_peak_20_at_TFPI_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I187500 187500074 187505927 1.11 [{'connected_gene': 'TFPI', 'score': 18.68}, {'connected_gene': 'GAPDHP59', 'score': 9.94}, {'connected_gene': 'CALCRL', 'score': 9.69}, {'connected_gene': 'GC02M187465', 'score': 0.28}, {'connected_gene': 'LOC105373786', 'score': 0.04}]
chr2 GH02I187576 187576974 187577123 0.49 [{'connected_gene': 'TFPI', 'score': 0.39}, {'connected_gene': 'LOC105373788', 'score': 0.07}]
chr2 GH02I187660 187659194 187659203 0.46 [{'connected_gene': 'TFPI', 'score': 0.16}, {'connected_gene': 'LOC105373788', 'score': 0.11}]
chr2 GH02I187571 187571458 187571593 0.22 [{'connected_gene': 'TFPI', 'score': 10.72}, {'connected_gene': 'LOC105373788', 'score': 0.07}]
chr2 GH02I187676 187676154 187676303 0.2 [{'connected_gene': 'TFPI', 'score': 0.14}, {'connected_gene': 'LOC105373788', 'score': 0.13}]
chr2 GH02I187580 187580366 187582044 1.04 [{'connected_gene': 'TFPI', 'score': 20.86}, {'connected_gene': 'LOC105373788', 'score': 0.07}]
chr2 GH02I187566 187566114 187567075 0.43 [{'connected_gene': 'TFPI', 'score': 559.98}, {'connected_gene': 'LOC105373788', 'score': 0.07}]
chr2 GH02I187577 187577374 187577523 0.6 [{'connected_gene': 'TFPI', 'score': 0.39}, {'connected_gene': 'LOC105373788', 'score': 0.07}]
chr2 GH02I187659 187659034 187659183 0.49 [{'connected_gene': 'TFPI', 'score': 0.16}, {'connected_gene': 'LOC105373788', 'score': 0.11}]
chr2 GH02I187599 187599131 187599153 0.25 [{'connected_gene': 'TFPI', 'score': 2.01}, {'connected_gene': 'LOC105373788', 'score': 0.08}]
chr2 GH02I187565 187565754 187565903 0.2 [{'connected_gene': 'TFPI', 'score': 550.77}, {'connected_gene': 'LOC105373786', 'score': 7.06}, {'connected_gene': 'LOC105373788', 'score': 0.07}]
chr2 GH02I187574 187574515 187576201 0.74 [{'connected_gene': 'TFPI', 'score': 19.43}, {'connected_gene': 'LOC105373786', 'score': 7.74}, {'connected_gene': 'LOC105373788', 'score': 0.07}]
chr2 GH02I187522 187522114 187522681 0.38 [{'connected_gene': 'TFPI', 'score': 0.26}, {'connected_gene': 'GC02M187465', 'score': 0.22}, {'connected_gene': 'LOC105373786', 'score': 0.03}]
chr2 GH02I187513 187513643 187513702 1.11 [{'connected_gene': 'TFPI', 'score': 550.23}, {'connected_gene': 'GC02M187465', 'score': 0.25}, {'connected_gene': 'LOC105373786', 'score': 0.03}]
chr2 GH02I187508 187508998 187512631 1.15 [{'connected_gene': 'TFPI', 'score': 18.43}, {'connected_gene': 'CALCRL', 'score': 11.64}, {'connected_gene': 'GAPDHP59', 'score': 8.75}, {'connected_gene': 'GC02M187465', 'score': 0.26}, {'connected_gene': 'LOC105373786', 'score': 0.03}]
chr2 GH02I187526 187526169 187531371 1.33 [{'connected_gene': 'TFPI', 'score': 15.94}, {'connected_gene': 'CALCRL', 'score': 11.5}, {'connected_gene': 'FAM171B', 'score': 3.67}, {'connected_gene': 'GC02M187465', 'score': 0.21}, {'connected_gene': 'LOC105373786', 'score': 0.03}]
chr2 GH02I187539 187539134 187555344 2.74 [{'connected_gene': 'TFPI', 'score': 575.08}, {'connected_gene': 'CALCRL', 'score': 12.73}, {'connected_gene': 'ZSWIM2', 'score': 10.05}, {'connected_gene': 'GAPDHP59', 'score': 5.02}, {'connected_gene': 'ST13P2', 'score': 4.47}, {'connected_gene': 'GC02M187465', 'score': 0.18}, {'connected_gene': 'LOC105373786', 'score': 0.03}]
chr2 GH02I187525 187525017 187526023 0.46 [{'connected_gene': 'TFPI', 'score': 27.72}, {'connected_gene': 'CALCRL', 'score': 10.92}, {'connected_gene': 'GC02M187465', 'score': 0.22}, {'connected_gene': 'LOC105373786', 'score': 0.03}]
chr2 GH02I186693 186693474 186695830 1.87 [{'connected_gene': 'FAM171B', 'score': 564.56}, {'connected_gene': 'ENSG00000227227', 'score': 550.77}, {'connected_gene': 'ITGAV', 'score': 6.61}, {'connected_gene': 'TFPI', 'score': 4.94}]
chr2 GH02I186917 186917937 186920526 0.46 [{'connected_gene': 'ZSWIM2', 'score': 10.29}, {'connected_gene': 'CALCRL', 'score': 7.21}, {'connected_gene': 'TFPI', 'score': 3.83}, {'connected_gene': 'PIR60867', 'score': 0.18}, {'connected_gene': 'GC02M187006', 'score': 0.18}]
chr2 GH02I187586 187586001 187586861 1.11 [{'connected_gene': 'LOC105373786', 'score': 7.74}, {'connected_gene': 'TFPI', 'score': 0.34}, {'connected_gene': 'LOC105373788', 'score': 0.08}]
chr2 GH02I187519 187519386 187520599 0.76 [{'connected_gene': 'LOC105373786', 'score': 7.44}, {'connected_gene': 'TFPI', 'score': 4.62}, {'connected_gene': 'GC02M187465', 'score': 0.23}]
chr2 GH02I187532 187532247 187533647 0.46 [{'connected_gene': 'CALCRL', 'score': 12.35}, {'connected_gene': 'TFPI', 'score': 0.29}, {'connected_gene': 'GC02M187465', 'score': 0.2}, {'connected_gene': 'LOC105373786', 'score': 0.03}]
chr2 GH02I187516 187516071 187517315 0.83 [{'connected_gene': 'CALCRL', 'score': 27.34}, {'connected_gene': 'TFPI', 'score': 21.97}, {'connected_gene': 'GC02M187465', 'score': 0.23}, {'connected_gene': 'LOC105373786', 'score': 0.03}]
chr2 GH02I187523 187523207 187523872 0.31 [{'connected_gene': 'CALCRL', 'score': 9.5}, {'connected_gene': 'TFPI', 'score': 0.26}, {'connected_gene': 'GC02M187465', 'score': 0.22}, {'connected_gene': 'LOC105373786', 'score': 0.03}]
chr2 GH02I187482 187482857 187483059 0.69 [{'connected_gene': 'GC02M187465', 'score': 0.37}, {'connected_gene': 'TFPI', 'score': 0.18}, {'connected_gene': 'LOC105373786', 'score': 0.04}]
chr2 GH02I186735 186735018 186735719 0.2 [{'connected_gene': 'ENSG00000227227', 'score': 11.19}, {'connected_gene': 'FAM171B', 'score': 11.19}, {'connected_gene': 'TFPI', 'score': 3.94}, {'connected_gene': 'ZSWIM2', 'score': 0.14}]

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