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
ENST00000435070 [[69633316, 69633486], [69644908, 69645118], [69646830, 69646934], [69650476, 69650622], [69651511, 69651685], [69652369, 69652874], [69653207, 69653323], [69653823, 69653977], [69656152, 69656342], [69663291, 69668138]] [[69633426, 69633486], [69644908, 69645118], [69646830, 69646934], [69650476, 69650622], [69651511, 69651685], [69652369, 69652874], [69653207, 69653323], [69653823, 69653977], [69656152, 69656339]]
ENST00000550075 [[69633351, 69633486], [69644908, 69645118], [69645865, 69645996], [69646830, 69646894]] [[69633426, 69633486], [69644908, 69645118], [69645865, 69645919]]
ENST00000456847 [[69633379, 69633486], [69644908, 69645118], [69646830, 69646934], [69650476, 69650622], [69651511, 69651562], [69652465, 69652874], [69653207, 69653323], [69653823, 69653977], [69656152, 69656342], [69663291, 69663719]] [[69633426, 69633486], [69644908, 69645118], [69646830, 69646934], [69650476, 69650622], [69651511, 69651562], [69652465, 69652874], [69653207, 69653323], [69653823, 69653977], [69656152, 69656339]]
ENST00000266679 [[69633395, 69633486], [69644908, 69645118], [69646830, 69646934], [69650476, 69650622], [69651511, 69651685], [69651814, 69651925], [69652369, 69652874], [69653207, 69653323], [69653823, 69653977], [69656152, 69656342], [69663291, 69663719]] [[69633426, 69633486], [69644908, 69645118], [69646830, 69646934], [69650476, 69650622], [69651511, 69651685], [69651814, 69651925], [69652369, 69652874], [69653207, 69653323], [69653823, 69653977], [69656152, 69656339]]
ENST00000550987 [[69633399, 69633486], [69644908, 69645118], [69646830, 69646934], [69648781, 69648940]] None
ENST00000551516 [[69633421, 69633486], [69644908, 69644921], [69656248, 69656342], [69663291, 69663353]] [[69633426, 69633486], [69644908, 69644921], [69656248, 69656342], [69663291, 69663295]]
ENST00000547486 [[69644954, 69645118], [69646830, 69646934], [69650476, 69650622], [69651511, 69651969]] None
NM_007007 [[69633316, 69633486], [69644908, 69645118], [69646830, 69646934], [69650476, 69650622], [69651511, 69651685], [69652369, 69652874], [69653207, 69653323], [69653823, 69653977], [69656152, 69656342], [69663291, 69668138]] [[69633426, 69633486], [69644908, 69645118], [69646830, 69646934], [69650476, 69650622], [69651511, 69651685], [69652369, 69652874], [69653207, 69653323], [69653823, 69653977], [69656152, 69656339]]
NM_001300947 [[69633316, 69633486], [69644908, 69645118], [69646830, 69646934], [69650476, 69650622], [69651511, 69651685], [69651814, 69651925], [69652369, 69652874], [69653207, 69653323], [69653823, 69653977], [69656152, 69656342], [69663291, 69668138]] [[69633426, 69633486], [69644908, 69645118], [69646830, 69646934], [69650476, 69650622], [69651511, 69651685], [69651814, 69651925], [69652369, 69652874], [69653207, 69653323], [69653823, 69653977], [69656152, 69656339]]
Promoter
Chrom Start End Description
chr12 69633341 69633366 CAGE_peak_1_at_CPSF6_5end
chr12 69633372 69633390 CAGE_peak_2_at_CPSF6_5end
chr12 69633407 69633421 CAGE_peak_3_at_CPSF6_5end
chr12 69652068 69652073 CAGE_peak_20_at_CPSF6_5end
chr12 69652342 69652353 CAGE_peak_17_at_CPSF6_5end
chr12 69665761 69665770 CAGE_peak_31_at_CPSF6_5end
chr12 69665801 69665808 CAGE_peak_55_at_CPSF6_5end
chr12 69665860 69665871 CAGE_peak_18_at_CPSF6_5end
chr12 69665946 69665955 CAGE_peak_7_at_CPSF6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I069358 69358888 69361115 2.09 [{'connected_gene': 'YEATS4', 'score': 592.52}, {'connected_gene': 'LYZ', 'score': 52.25}, {'connected_gene': 'NUP107', 'score': 39.1}, {'connected_gene': 'CNOT2', 'score': 21.32}, {'connected_gene': 'KRT8P39', 'score': 19.69}, {'connected_gene': 'RAP1B', 'score': 13.28}, {'connected_gene': 'RPL10P12', 'score': 12.26}, {'connected_gene': 'CPSF6', 'score': 11.13}, {'connected_gene': 'RN7SL804P', 'score': 0.26}]
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 GH12I068556 68556749 68558747 0.86 [{'connected_gene': 'NUP107', 'score': 22.44}, {'connected_gene': 'RPL10P12', 'score': 21.61}, {'connected_gene': 'RAP1B', 'score': 12.97}, {'connected_gene': 'KRT8P39', 'score': 11.35}, {'connected_gene': 'LINC02384', 'score': 10.9}, {'connected_gene': 'SNORA70G', 'score': 10.88}, {'connected_gene': 'MDM1', 'score': 10.83}, {'connected_gene': 'DYRK2', 'score': 10.72}, {'connected_gene': 'CPSF6', 'score': 9.82}, {'connected_gene': 'RPSAP12', 'score': 0.77}, {'connected_gene': 'ENSG00000274459', 'score': 0.37}]
chr12 GH12I068361 68361835 68368841 1.76 [{'connected_gene': 'NUP107', 'score': 27.3}, {'connected_gene': 'MDM1', 'score': 12.41}, {'connected_gene': 'LINC02384', 'score': 12.28}, {'connected_gene': 'SNORA70G', 'score': 11.76}, {'connected_gene': 'RPL10P12', 'score': 11.76}, {'connected_gene': 'CPSF6', 'score': 11.03}, {'connected_gene': 'KRT8P39', 'score': 10.96}, {'connected_gene': 'RPL7P42', 'score': 10.69}, {'connected_gene': 'LOC100507250', 'score': 10.69}, {'connected_gene': 'RAP1B', 'score': 4.96}, {'connected_gene': 'IFNG', 'score': 1.66}, {'connected_gene': 'ENSG00000256273', 'score': 0.34}, {'connected_gene': 'GC12P068422', 'score': 0.22}]
chr12 GH12I069553 69553624 69556782 0.95 [{'connected_gene': 'NUP107', 'score': 15.96}, {'connected_gene': 'CNOT2', 'score': 13.66}, {'connected_gene': 'KRT8P39', 'score': 12.99}, {'connected_gene': 'CPSF6', 'score': 11.73}, {'connected_gene': 'FRS2', 'score': 7.42}, {'connected_gene': 'CCT2', 'score': 5.0}, {'connected_gene': 'MIR3913-2', 'score': 0.31}, {'connected_gene': 'GC12P069484', 'score': 0.19}, {'connected_gene': 'GC12P069483', 'score': 0.19}]
chr12 GH12I068404 68404672 68407423 1.29 [{'connected_gene': 'NUP107', 'score': 20.88}, {'connected_gene': 'CPSF6', 'score': 14.37}, {'connected_gene': 'KRT8P39', 'score': 11.12}, {'connected_gene': 'MDM2', 'score': 4.06}, {'connected_gene': 'MDM1', 'score': 3.96}, {'connected_gene': 'IL22', 'score': 3.18}, {'connected_gene': 'SLC35E3', 'score': 1.9}, {'connected_gene': 'RAP1B', 'score': 1.8}, {'connected_gene': 'GC12P068422', 'score': 0.37}, {'connected_gene': 'LINC02384', 'score': 0.25}, {'connected_gene': 'ENSG00000256273', 'score': 0.21}]
chr12 GH12I068685 68685309 68688350 2.12 [{'connected_gene': 'NUP107', 'score': 622.73}, {'connected_gene': 'LOC100507250', 'score': 550.77}, {'connected_gene': 'CPSF6', 'score': 33.88}, {'connected_gene': 'KRT8P39', 'score': 21.88}, {'connected_gene': 'RPL10P12', 'score': 12.46}, {'connected_gene': 'MDM2', 'score': 10.68}, {'connected_gene': 'RPL7P42', 'score': 0.77}]
chr12 GH12I068331 68331302 68334736 2.36 [{'connected_gene': 'MDM1', 'score': 571.8}, {'connected_gene': 'PIR51506', 'score': 550.77}, {'connected_gene': 'LOC105369819', 'score': 550.77}, {'connected_gene': 'GC12P068332', 'score': 550.77}, {'connected_gene': 'NUP107', 'score': 42.19}, {'connected_gene': 'RPL10P12', 'score': 12.3}, {'connected_gene': 'KRT8P39', 'score': 10.51}, {'connected_gene': 'CPSF6', 'score': 9.88}, {'connected_gene': 'ENSG00000256273', 'score': 5.82}, {'connected_gene': 'LINC02421', 'score': 4.47}, {'connected_gene': 'LINC02384', 'score': 0.13}]
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 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 GH12I068674 68674917 68677210 1.51 [{'connected_gene': 'CPSF6', 'score': 15.89}, {'connected_gene': 'C1GALT1P1', 'score': 11.53}, {'connected_gene': 'MDM1', 'score': 7.69}, {'connected_gene': 'MDM2', 'score': 6.54}, {'connected_gene': 'NUP107', 'score': 5.78}, {'connected_gene': 'RAP1B', 'score': 5.23}, {'connected_gene': 'SLC35E3', 'score': 3.47}, {'connected_gene': 'RPL7P42', 'score': 0.44}, {'connected_gene': 'LOC100507250', 'score': 0.39}, {'connected_gene': 'GC12P068661', 'score': 0.37}]
chr12 GH12I069533 69533538 69536599 1 [{'connected_gene': 'CPSF6', 'score': 18.19}, {'connected_gene': 'NUP107', 'score': 16.98}, {'connected_gene': 'CNOT2', 'score': 12.76}, {'connected_gene': 'KRT8P39', 'score': 12.01}, {'connected_gene': 'YEATS4', 'score': 10.14}, {'connected_gene': 'FRS2', 'score': 7.33}, {'connected_gene': 'MIR3913-2', 'score': 0.25}, {'connected_gene': 'GC12P069484', 'score': 0.23}, {'connected_gene': 'GC12P069483', 'score': 0.23}]
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 GH12I069253 69253621 69255463 0.69 [{'connected_gene': 'CPSF6', 'score': 15.78}, {'connected_gene': 'CNOT2', 'score': 15.29}, {'connected_gene': 'NUP107', 'score': 15.27}, {'connected_gene': 'KRT8P39', 'score': 11.78}, {'connected_gene': 'MDM2', 'score': 11.02}, {'connected_gene': 'LYZ', 'score': 10.93}, {'connected_gene': 'RPL10P12', 'score': 10.7}, {'connected_gene': 'GC12P069269', 'score': 0.37}]
chr12 GH12I069023 69023790 69025746 1.16 [{'connected_gene': 'CPSF6', 'score': 21.54}, {'connected_gene': 'MDM2', 'score': 20.87}, {'connected_gene': 'YEATS4', 'score': 20.28}, {'connected_gene': 'FRS2', 'score': 20.03}, {'connected_gene': 'NUP107', 'score': 12.2}, {'connected_gene': 'SLC35E3', 'score': 6.8}, {'connected_gene': 'GC12M069009', 'score': 0.37}, {'connected_gene': 'GC12M069139', 'score': 0.13}]
chr12 GH12I069238 69238484 69241576 2.3 [{'connected_gene': 'CPSF6', 'score': 559.71}, {'connected_gene': 'LYZ', 'score': 23.47}, {'connected_gene': 'RAP1B', 'score': 13.28}, {'connected_gene': 'NUP107', 'score': 10.24}, {'connected_gene': 'MDM2', 'score': 8.14}, {'connected_gene': 'YEATS4', 'score': 8.13}, {'connected_gene': 'FRS2', 'score': 7.94}, {'connected_gene': 'CCT2', 'score': 6.82}, {'connected_gene': 'SLC35E3', 'score': 3.65}, {'connected_gene': 'RAB3IP', 'score': 3.6}, {'connected_gene': 'GC12P069269', 'score': 0.31}]
chr12 GH12I069900 69900261 69902065 0.98 [{'connected_gene': 'CPSF6', 'score': 10.27}, {'connected_gene': 'FRS2', 'score': 9.95}, {'connected_gene': 'RAB3IP', 'score': 6.71}, {'connected_gene': 'MYRFL', 'score': 5.78}, {'connected_gene': 'ENSG00000257241', 'score': 0.25}]
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 GH12I068373 68373601 68375281 1.25 [{'connected_gene': 'CPSF6', 'score': 9.75}, {'connected_gene': 'ENSG00000256273', 'score': 0.31}, {'connected_gene': 'GC12P068422', 'score': 0.25}, {'connected_gene': 'LINC02384', 'score': 0.18}]
chr12 GH12I069242 69242801 69243600 0.8 [{'connected_gene': 'CPSF6', 'score': 0.77}, {'connected_gene': 'GC12P069269', 'score': 0.31}]
chr12 GH12I069445 69445834 69446044 0.22 [{'connected_gene': 'FRS2', 'score': 3.61}, {'connected_gene': 'CPSF6', 'score': 3.17}, {'connected_gene': 'CCT2', 'score': 3.14}, {'connected_gene': 'YEATS4', 'score': 3.12}, {'connected_gene': 'LINC02373', 'score': 0.39}]
chr12 GH12I069474 69474420 69476417 1.17 [{'connected_gene': 'CCT2', 'score': 16.73}, {'connected_gene': 'FRS2', 'score': 12.88}, {'connected_gene': 'LYZ', 'score': 9.86}, {'connected_gene': 'CPSF6', 'score': 6.87}, {'connected_gene': 'YEATS4', 'score': 6.67}, {'connected_gene': 'RAB3IP', 'score': 1.55}, {'connected_gene': 'GC12P069484', 'score': 0.44}, {'connected_gene': 'GC12P069483', 'score': 0.44}]
chr12 GH12I069619 69619509 69619530 0.23 [{'connected_gene': 'CCT2', 'score': 20.04}, {'connected_gene': 'FRS2', 'score': 19.78}, {'connected_gene': 'CPSF6', 'score': 19.26}, {'connected_gene': 'YEATS4', 'score': 18.54}, {'connected_gene': 'LYZ', 'score': 10.65}, {'connected_gene': 'RAB3IP', 'score': 2.06}, {'connected_gene': 'LOC105369823', 'score': 0.77}, {'connected_gene': 'LRRC10', 'score': 0.44}]
chr12 GH12I069738 69738201 69740706 1.98 [{'connected_gene': 'LOC101928002', 'score': 566.5}, {'connected_gene': 'RAB3IP', 'score': 563.05}, {'connected_gene': 'MYRFL', 'score': 22.49}, {'connected_gene': 'CPSF6', 'score': 11.46}, {'connected_gene': 'ENSG00000257815', 'score': 11.45}, {'connected_gene': 'ENSG00000258052', 'score': 0.21}]
chr12 GH12I068496 68496801 68498969 1.1 [{'connected_gene': 'LINC02384', 'score': 11.3}, {'connected_gene': 'MDM1', 'score': 11.15}, {'connected_gene': 'CPSF6', 'score': 10.28}, {'connected_gene': 'NUP107', 'score': 9.87}, {'connected_gene': 'ENSG00000256917', 'score': 0.39}, {'connected_gene': 'GC12M068554', 'score': 0.22}]
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 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 GH12I069266 69266061 69266817 0.57 [{'connected_gene': 'GC12P069269', 'score': 0.77}, {'connected_gene': 'CPSF6', 'score': 0.31}]

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