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
ENST00000414423 [[224572844, 224577562], [224581529, 224581715], [224585798, 224585928], [224586216, 224586295], [224586590, 224586736], [224588651, 224588771], [224592131, 224592272], [224599128, 224599267], [224605961, 224606118], [224607219, 224607317], [224612219, 224612356], [224619178, 224619283], [224619383, 224619483], [224621385, 224622001]] [[224577536, 224577562], [224581529, 224581715], [224585798, 224585928], [224586216, 224586295], [224586590, 224586736], [224588651, 224588771], [224592131, 224592272], [224599128, 224599267], [224605961, 224606118], [224607219, 224607317], [224612219, 224612356], [224619178, 224619283], [224619383, 224619483], [224621385, 224621807]]
ENST00000295024 [[224572850, 224577562], [224581529, 224581715], [224585798, 224585928], [224586216, 224586295], [224586590, 224586736], [224588651, 224588771], [224592131, 224592272], [224599128, 224599267], [224605961, 224606118], [224607219, 224607317], [224612219, 224612356], [224619178, 224619283], [224619383, 224619483], [224621385, 224622001]] [[224577536, 224577562], [224581529, 224581715], [224585798, 224585928], [224586216, 224586295], [224586590, 224586736], [224588651, 224588771], [224592131, 224592272], [224599128, 224599267], [224605961, 224606118], [224607219, 224607317], [224612219, 224612356], [224619178, 224619283], [224619383, 224619464]]
ENST00000480676 [[224573367, 224574204], [224577534, 224577562], [224581529, 224581715], [224585798, 224585928], [224586216, 224586295], [224586590, 224586736], [224588651, 224588771], [224592131, 224592272], [224599128, 224599186]] [[224577536, 224577562], [224581529, 224581715], [224585798, 224585928], [224586216, 224586295], [224586590, 224586736], [224588651, 224588771], [224592131, 224592272], [224599128, 224599186]]
ENST00000486652 [[224576837, 224577562], [224581529, 224581715], [224585798, 224585928], [224586216, 224586295], [224586590, 224586736], [224588651, 224588771], [224589705, 224589811], [224592131, 224592272], [224599128, 224599267], [224600954, 224601037], [224605961, 224606118], [224607219, 224607317], [224612219, 224612421], [224619226, 224619283], [224619383, 224619483], [224621385, 224621783]] [[224612349, 224612421], [224619226, 224619283], [224619383, 224619483], [224621385, 224621783]]
ENST00000366852 [[224576838, 224577562], [224581529, 224581715], [224585798, 224585928], [224586216, 224586295], [224586590, 224586736], [224588651, 224588771], [224589705, 224589811], [224592131, 224592272], [224599128, 224599267], [224600954, 224601037], [224605961, 224606118], [224607219, 224607317], [224612219, 224612421], [224619226, 224619283], [224619383, 224619483], [224621385, 224621807]] [[224612349, 224612421], [224619226, 224619283], [224619383, 224619483], [224621385, 224621807]]
ENST00000479727 [[224585428, 224585928], [224586216, 224586295], [224586590, 224586736], [224588651, 224588721]] None
ENST00000443112 [[224600610, 224601037], [224605961, 224606118], [224607219, 224607317], [224612219, 224612356], [224619226, 224619283], [224619383, 224619483], [224621385, 224621715]] None
ENST00000489825 [[224607146, 224607317], [224612219, 224612421], [224619178, 224619283], [224619383, 224619483], [224621385, 224621558]] None
ENST00000477425 [[224607250, 224607317], [224612219, 224612421], [224619178, 224619283], [224621385, 224621540]] None
ENST00000445239 [[224607263, 224607317], [224612219, 224612356], [224619178, 224619283], [224619383, 224619483], [224623418, 224623593], [224624522, 224624735]] [[224607263, 224607317], [224612219, 224612356], [224619178, 224619283], [224619383, 224619464]]
ENST00000479778 [[224616998, 224619283], [224619383, 224619483], [224621385, 224621552]] None
NM_025160 [[224572844, 224577562], [224581529, 224581715], [224585798, 224585928], [224586216, 224586295], [224586590, 224586736], [224588651, 224588771], [224592131, 224592272], [224599128, 224599267], [224605961, 224606118], [224607219, 224607317], [224612219, 224612356], [224619178, 224619283], [224619383, 224619483], [224621385, 224622001]] [[224577536, 224577562], [224581529, 224581715], [224585798, 224585928], [224586216, 224586295], [224586590, 224586736], [224588651, 224588771], [224592131, 224592272], [224599128, 224599267], [224605961, 224606118], [224607219, 224607317], [224612219, 224612356], [224619178, 224619283], [224619383, 224619483], [224621385, 224621807]]
NM_001115113 [[224572844, 224577562], [224581529, 224581715], [224585798, 224585928], [224586216, 224586295], [224586590, 224586736], [224588651, 224588771], [224592131, 224592272], [224599128, 224599267], [224605961, 224606118], [224607219, 224607317], [224612219, 224612356], [224619226, 224619283], [224619383, 224619483], [224621385, 224622001]] [[224577536, 224577562], [224581529, 224581715], [224585798, 224585928], [224586216, 224586295], [224586590, 224586736], [224588651, 224588771], [224592131, 224592272], [224599128, 224599267], [224605961, 224606118], [224607219, 224607317], [224612219, 224612356], [224619226, 224619283], [224619383, 224619483], [224621385, 224621807]]
Promoter
Chrom Start End Description
chr1 224621428 224621444 CAGE_peak_15_at_WDR26_5end
chr1 224621449 224621466 CAGE_peak_14_at_WDR26_5end
chr1 224621477 224621489 CAGE_peak_8_at_WDR26_5end
chr1 224622452 224622524 CAGE_peak_1_at_WDR26_5end
chr1 224624730 224624740 CAGE_peak_36_at_WDR26_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I224181 224181467 224185508 2.27 [{'connected_gene': 'DEGS1', 'score': 550.44}, {'connected_gene': 'LOC101927143', 'score': 24.46}, {'connected_gene': 'WDR26', 'score': 13.97}, {'connected_gene': 'CICP5', 'score': 13.68}, {'connected_gene': 'ENSG00000201898', 'score': 0.77}, {'connected_gene': 'PIR33615', 'score': 0.44}, {'connected_gene': 'GC01P224191', 'score': 0.44}]
chr1 GH01I224389 224389542 224389833 0.4 [{'connected_gene': 'DEGS1', 'score': 4.89}, {'connected_gene': 'MIR4742', 'score': 0.44}, {'connected_gene': 'GC01M224388', 'score': 0.44}, {'connected_gene': 'GC01P224379', 'score': 0.39}, {'connected_gene': 'WDR26', 'score': 0.25}]
chr1 GH01I223787 223787206 223790611 0.99 [{'connected_gene': 'CAPN2', 'score': 17.13}, {'connected_gene': 'WDR26', 'score': 11.16}, {'connected_gene': 'NVL', 'score': 10.13}, {'connected_gene': 'TP53BP2', 'score': 8.83}, {'connected_gene': 'GTF2IP20', 'score': 5.17}, {'connected_gene': 'GC01P223795', 'score': 0.44}, {'connected_gene': 'GC01M223774', 'score': 0.39}]
chr1 GH01I223698 223698949 223704092 1.83 [{'connected_gene': 'CAPN2', 'score': 563.01}, {'connected_gene': 'CICP5', 'score': 20.27}, {'connected_gene': 'NVL', 'score': 14.66}, {'connected_gene': 'LOC100287497', 'score': 10.2}, {'connected_gene': 'WDR26', 'score': 10.06}, {'connected_gene': 'CAPN8', 'score': 9.44}, {'connected_gene': 'GTF2IP20', 'score': 4.45}, {'connected_gene': 'LOC105373281', 'score': 0.44}, {'connected_gene': 'RNU6-1248P', 'score': 0.39}]
chr1 GH01I223710 223710431 223722216 2.82 [{'connected_gene': 'CAPN2', 'score': 579.21}, {'connected_gene': 'CICP5', 'score': 85.99}, {'connected_gene': 'NVL', 'score': 84.61}, {'connected_gene': 'LOC100287497', 'score': 47.33}, {'connected_gene': 'TP53BP2', 'score': 27.69}, {'connected_gene': 'WDR26', 'score': 27.45}, {'connected_gene': 'CAPN8', 'score': 14.59}, {'connected_gene': 'GTF2IP20', 'score': 12.95}, {'connected_gene': 'FBXO28', 'score': 11.41}, {'connected_gene': 'RNU6-1248P', 'score': 11.06}, {'connected_gene': 'LOC105373281', 'score': 0.44}, {'connected_gene': 'GC01P223725', 'score': 0.44}]
chr1 GH01I223769 223769475 223773465 1.45 [{'connected_gene': 'WDR26', 'score': 30.32}, {'connected_gene': 'CICP5', 'score': 24.37}, {'connected_gene': 'CAPN2', 'score': 19.46}, {'connected_gene': 'NVL', 'score': 12.69}, {'connected_gene': 'LOC100287497', 'score': 11.78}, {'connected_gene': 'CAPN8', 'score': 10.85}, {'connected_gene': 'GTF2IP20', 'score': 10.5}, {'connected_gene': 'TP53BP2', 'score': 7.14}, {'connected_gene': 'LOC105373041', 'score': 0.77}, {'connected_gene': 'LOC105373046', 'score': 0.29}]
chr1 GH01I224410 224410422 224410716 0.35 [{'connected_gene': 'WDR26', 'score': 14.93}, {'connected_gene': 'CNIH3', 'score': 11.41}, {'connected_gene': 'NVL', 'score': 11.06}, {'connected_gene': 'CNIH4', 'score': 10.96}, {'connected_gene': 'GC01P224419', 'score': 0.44}, {'connected_gene': 'GC01M224388', 'score': 0.39}]
chr1 GH01I223819 223819299 223820894 1.11 [{'connected_gene': 'CICP5', 'score': 17.0}, {'connected_gene': 'NVL', 'score': 13.19}, {'connected_gene': 'TP53BP2', 'score': 12.78}, {'connected_gene': 'LOC100287497', 'score': 11.18}, {'connected_gene': 'WDR26', 'score': 10.4}, {'connected_gene': 'GTF2IP20', 'score': 10.16}, {'connected_gene': 'CAPN2', 'score': 7.6}, {'connected_gene': 'GC01M223821', 'score': 0.44}, {'connected_gene': 'GC01P223795', 'score': 0.34}]
chr1 GH01I223696 223696401 223696628 0.89 [{'connected_gene': 'CICP5', 'score': 20.27}, {'connected_gene': 'NVL', 'score': 14.66}, {'connected_gene': 'LOC100287497', 'score': 10.2}, {'connected_gene': 'WDR26', 'score': 10.06}, {'connected_gene': 'CAPN2', 'score': 9.17}, {'connected_gene': 'RNU6-1248P', 'score': 0.44}, {'connected_gene': 'LOC105373281', 'score': 0.39}]
chr1 GH01I224648 224648848 224649456 0.31 [{'connected_gene': 'CICP5', 'score': 16.9}, {'connected_gene': 'NVL', 'score': 13.21}, {'connected_gene': 'LOC100287497', 'score': 11.12}, {'connected_gene': 'WDR26', 'score': 10.45}, {'connected_gene': 'ENSG00000234247', 'score': 0.39}, {'connected_gene': 'LOC102723817', 'score': 0.29}, {'connected_gene': 'CNIH3', 'score': 0.08}]
chr1 GH01I223811 223811719 223811868 0.69 [{'connected_gene': 'TP53BP2', 'score': 12.01}, {'connected_gene': 'WDR26', 'score': 11.16}, {'connected_gene': 'CAPN2', 'score': 10.36}, {'connected_gene': 'GC01M223821', 'score': 0.37}, {'connected_gene': 'GC01P223795', 'score': 0.37}]
chr1 GH01I223844 223844059 223847446 2.56 [{'connected_gene': 'TP53BP2', 'score': 571.23}, {'connected_gene': 'GC01P223846', 'score': 550.77}, {'connected_gene': 'GC01P223847', 'score': 550.77}, {'connected_gene': 'CICP5', 'score': 75.44}, {'connected_gene': 'NVL', 'score': 51.64}, {'connected_gene': 'LOC100287497', 'score': 45.82}, {'connected_gene': 'CAPN2', 'score': 25.6}, {'connected_gene': 'FBXO28', 'score': 21.65}, {'connected_gene': 'WDR26', 'score': 20.96}, {'connected_gene': 'CNIH4', 'score': 9.89}, {'connected_gene': 'GTF2IP20', 'score': 8.01}, {'connected_gene': 'GC01M223821', 'score': 0.37}]
chr1 GH01I224328 224328431 224331502 2.1 [{'connected_gene': 'NVL', 'score': 557.85}, {'connected_gene': 'WDR26', 'score': 14.04}, {'connected_gene': 'CICP5', 'score': 13.67}, {'connected_gene': 'CNIH4', 'score': 12.63}, {'connected_gene': 'GC01M224258', 'score': 0.39}]
chr1 GH01I224501 224501848 224504857 1.79 [{'connected_gene': 'NVL', 'score': 67.66}, {'connected_gene': 'CICP5', 'score': 64.2}, {'connected_gene': 'LOC100287497', 'score': 38.56}, {'connected_gene': 'WDR26', 'score': 31.4}, {'connected_gene': 'CNIH4', 'score': 22.66}, {'connected_gene': 'GTF2IP20', 'score': 11.15}, {'connected_gene': 'CNIH3', 'score': 11.09}, {'connected_gene': 'CAPN2', 'score': 10.91}, {'connected_gene': 'LOC105373110', 'score': 10.86}, {'connected_gene': 'GC01P224480', 'score': 0.34}, {'connected_gene': 'AKR1B1P1', 'score': 0.19}]
chr1 GH01I224622 224622439 224625064 1.68 [{'connected_gene': 'NVL', 'score': 47.77}, {'connected_gene': 'CICP5', 'score': 45.48}, {'connected_gene': 'LOC100287497', 'score': 21.81}, {'connected_gene': 'GTF2IP20', 'score': 19.76}, {'connected_gene': 'CAPN2', 'score': 10.91}, {'connected_gene': 'WDR26', 'score': 10.46}, {'connected_gene': 'CNIH3', 'score': 9.86}, {'connected_gene': 'LOC105373106', 'score': 9.7}, {'connected_gene': 'LOC102723817', 'score': 0.44}, {'connected_gene': 'ENSG00000234247', 'score': 0.28}]
chr1 GH01I224359 224359601 224359800 0.54 [{'connected_gene': 'NVL', 'score': 11.8}, {'connected_gene': 'CNIH3', 'score': 10.95}, {'connected_gene': 'WDR26', 'score': 10.94}, {'connected_gene': 'LOC101927143', 'score': 10.2}, {'connected_gene': 'LOC101927164', 'score': 10.2}, {'connected_gene': 'CAPN2', 'score': 9.22}, {'connected_gene': 'CNIH4', 'score': 0.77}, {'connected_gene': 'GC01P224379', 'score': 0.37}]
chr1 GH01I223991 223991800 223994201 1.56 [{'connected_gene': 'GTF2IP20', 'score': 577.53}, {'connected_gene': 'LOC100287497', 'score': 573.56}, {'connected_gene': 'ENSG00000278467', 'score': 550.77}, {'connected_gene': 'CICP5', 'score': 57.92}, {'connected_gene': 'NVL', 'score': 44.01}, {'connected_gene': 'WDR26', 'score': 14.03}, {'connected_gene': 'CAPN2', 'score': 10.95}]
chr1 GH01I225424 225424124 225429641 2.56 [{'connected_gene': 'LBR', 'score': 571.22}, {'connected_gene': 'ACBD3', 'score': 47.49}, {'connected_gene': 'ACBD3-AS1', 'score': 31.86}, {'connected_gene': 'LINC01703', 'score': 25.14}, {'connected_gene': 'ENAH', 'score': 21.4}, {'connected_gene': 'WDR26', 'score': 20.08}, {'connected_gene': 'SDE2', 'score': 10.35}, {'connected_gene': 'ENSG00000272562', 'score': 9.96}, {'connected_gene': 'LOC105373110', 'score': 6.5}, {'connected_gene': 'GC01M225252', 'score': 0.44}, {'connected_gene': 'GC01M225093', 'score': 0.06}]
chr1 GH01I224496 224496978 224501389 1.64 [{'connected_gene': 'CNIH4', 'score': 22.29}, {'connected_gene': 'WDR26', 'score': 21.52}, {'connected_gene': 'CICP5', 'score': 16.9}, {'connected_gene': 'NVL', 'score': 13.25}, {'connected_gene': 'CNIH3', 'score': 11.14}, {'connected_gene': 'LOC100287497', 'score': 11.12}, {'connected_gene': 'GC01P224480', 'score': 0.37}, {'connected_gene': 'AKR1B1P1', 'score': 0.18}]
chr1 GH01I224427 224427108 224428498 0.54 [{'connected_gene': 'CNIH4', 'score': 33.99}, {'connected_gene': 'GC01P224430', 'score': 0.77}, {'connected_gene': 'GC01P224419', 'score': 0.44}, {'connected_gene': 'WDR26', 'score': 0.44}]
chr1 GH01I224456 224456191 224460259 1.24 [{'connected_gene': 'CNIH4', 'score': 46.56}, {'connected_gene': 'NVL', 'score': 27.71}, {'connected_gene': 'CICP5', 'score': 18.97}, {'connected_gene': 'CNIH3', 'score': 12.91}, {'connected_gene': 'WDR26', 'score': 12.91}, {'connected_gene': 'LOC100287497', 'score': 11.5}, {'connected_gene': 'DEGS1', 'score': 4.87}, {'connected_gene': 'GC01M224438', 'score': 0.37}, {'connected_gene': 'GC01P224480', 'score': 0.34}]
chr1 GH01I224356 224356219 224358596 2.34 [{'connected_gene': 'CNIH4', 'score': 587.17}, {'connected_gene': 'NVL', 'score': 16.51}, {'connected_gene': 'CNIH3', 'score': 10.94}, {'connected_gene': 'WDR26', 'score': 10.94}, {'connected_gene': 'LOC101927164', 'score': 10.21}, {'connected_gene': 'LOC101927143', 'score': 10.2}, {'connected_gene': 'CAPN2', 'score': 9.22}, {'connected_gene': 'DEGS1', 'score': 4.41}, {'connected_gene': 'FBXO28', 'score': 1.25}, {'connected_gene': 'GC01P224379', 'score': 0.37}]
chr1 GH01I224113 224113394 224116802 2.1 [{'connected_gene': 'FBXO28', 'score': 550.77}, {'connected_gene': 'LOC101927143', 'score': 32.86}, {'connected_gene': 'NVL', 'score': 24.02}, {'connected_gene': 'CICP5', 'score': 20.3}, {'connected_gene': 'WDR26', 'score': 19.52}, {'connected_gene': 'LOC100287497', 'score': 10.26}, {'connected_gene': 'GC01M224176', 'score': 0.21}]
chr1 GH01I224482 224482839 224482988 0.8 [{'connected_gene': 'CNIH3', 'score': 11.63}, {'connected_gene': 'WDR26', 'score': 11.63}, {'connected_gene': 'GC01P224480', 'score': 0.77}, {'connected_gene': 'AKR1B1P1', 'score': 0.16}]
chr1 GH01I224429 224429895 224437121 2.31 [{'connected_gene': 'CNIH3', 'score': 550.77}, {'connected_gene': 'WDR26', 'score': 550.77}, {'connected_gene': 'CNIH4', 'score': 36.31}, {'connected_gene': 'NVL', 'score': 15.35}, {'connected_gene': 'CICP5', 'score': 12.53}, {'connected_gene': 'GTF2IP20', 'score': 10.36}, {'connected_gene': 'GC01P224430', 'score': 0.77}]
chr1 GH01I223704 223704306 223709799 1.71 [{'connected_gene': 'LOC105373281', 'score': 550.77}, {'connected_gene': 'CICP5', 'score': 47.43}, {'connected_gene': 'CAPN2', 'score': 37.01}, {'connected_gene': 'WDR26', 'score': 32.57}, {'connected_gene': 'LOC100287497', 'score': 30.01}, {'connected_gene': 'NVL', 'score': 21.24}, {'connected_gene': 'CNIH4', 'score': 19.66}, {'connected_gene': 'CAPN8', 'score': 14.61}, {'connected_gene': 'FBXO28', 'score': 11.72}, {'connected_gene': 'AIDA', 'score': 10.07}, {'connected_gene': 'DISP1', 'score': 9.84}, {'connected_gene': 'LOC102724017', 'score': 9.68}]
chr1 GH01I224615 224615622 224620000 2.38 [{'connected_gene': 'LOC102723817', 'score': 550.77}, {'connected_gene': 'CNIH3', 'score': 550.09}, {'connected_gene': 'NVL', 'score': 54.07}, {'connected_gene': 'CICP5', 'score': 26.31}, {'connected_gene': 'LOC100287497', 'score': 11.12}, {'connected_gene': 'FBXO28', 'score': 10.54}, {'connected_gene': 'WDR26', 'score': 10.46}, {'connected_gene': 'LOC105373106', 'score': 9.64}, {'connected_gene': 'ENSG00000234247', 'score': 0.26}]
chr1 GH01I224218 224218812 224220347 0.69 [{'connected_gene': 'LOC101927164', 'score': 550.77}, {'connected_gene': 'LOC101927143', 'score': 21.28}, {'connected_gene': 'MIR320B2', 'score': 12.07}, {'connected_gene': 'NVL', 'score': 10.56}, {'connected_gene': 'CNIH4', 'score': 10.0}, {'connected_gene': 'CNIH3', 'score': 9.66}, {'connected_gene': 'WDR26', 'score': 9.66}, {'connected_gene': 'DEGS1', 'score': 5.29}]
chr1 GH01I224168 224168402 224171316 1.31 [{'connected_gene': 'LOC101927143', 'score': 38.7}, {'connected_gene': 'LOC101927164', 'score': 12.0}, {'connected_gene': 'NVL', 'score': 10.8}, {'connected_gene': 'CNIH4', 'score': 10.58}, {'connected_gene': 'TP53BP2', 'score': 8.67}, {'connected_gene': 'DEGS1', 'score': 6.07}, {'connected_gene': 'FBXO28', 'score': 1.43}, {'connected_gene': 'WDR26', 'score': 1.38}, {'connected_gene': 'GC01M224176', 'score': 0.44}]
chr1 GH01I224340 224340601 224341400 0.63 [{'connected_gene': 'LOC101927143', 'score': 10.46}, {'connected_gene': 'LOC101927164', 'score': 10.46}, {'connected_gene': 'CNIH3', 'score': 10.15}, {'connected_gene': 'WDR26', 'score': 10.15}, {'connected_gene': 'NVL', 'score': 5.94}, {'connected_gene': 'CNIH4', 'score': 0.37}]
chr1 GH01I224223 224223319 224224653 0.89 [{'connected_gene': 'LOC101927143', 'score': 27.66}, {'connected_gene': 'MIR320B2', 'score': 12.08}, {'connected_gene': 'NVL', 'score': 10.57}, {'connected_gene': 'CNIH4', 'score': 10.0}, {'connected_gene': 'CNIH3', 'score': 9.66}, {'connected_gene': 'WDR26', 'score': 9.66}, {'connected_gene': 'DEGS1', 'score': 5.38}, {'connected_gene': 'LOC101927164', 'score': 0.77}]
chr1 GH01I224390 224389282 224389526 0.4 [{'connected_gene': 'MIR4742', 'score': 0.44}, {'connected_gene': 'GC01M224388', 'score': 0.44}, {'connected_gene': 'GC01P224379', 'score': 0.39}, {'connected_gene': 'WDR26', 'score': 0.25}]
chr1 GH01I224376 224376390 224381297 1.03 [{'connected_gene': 'GC01P224379', 'score': 550.77}, {'connected_gene': 'CNIH4', 'score': 48.12}, {'connected_gene': 'NVL', 'score': 16.9}, {'connected_gene': 'CNIH3', 'score': 11.29}, {'connected_gene': 'WDR26', 'score': 11.29}, {'connected_gene': 'MIR4742', 'score': 0.37}]
chr1 GH01I224438 224438603 224439622 0.72 [{'connected_gene': 'GC01M224438', 'score': 550.77}, {'connected_gene': 'CNIH4', 'score': 37.05}, {'connected_gene': 'CNIH3', 'score': 0.77}, {'connected_gene': 'WDR26', 'score': 0.77}]

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