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
ENST00000233331 [[74682149, 74682301], [74682532, 74682725], [74682944, 74683063], [74683229, 74683399], [74684460, 74685087]] [[74682243, 74682301], [74682532, 74682725], [74682944, 74683063], [74683229, 74683399], [74684460, 74684991]]
ENST00000431187 [[74682213, 74682301], [74682532, 74682725], [74682944, 74683063], [74683274, 74683399], [74684460, 74684494]] [[74682243, 74682301], [74682532, 74682725], [74682944, 74683063], [74683274, 74683399], [74684460, 74684494]]
ENST00000452361 [[74682214, 74682301], [74682532, 74682725], [74682944, 74683063], [74683229, 74683399], [74684460, 74684987], [74686769, 74686872], [74686999, 74687176], [74687347, 74688011]] [[74682243, 74682301], [74682532, 74682725], [74682944, 74683063], [74683229, 74683399], [74684460, 74684987], [74686769, 74686794]]
ENST00000494986 [[74682226, 74682301], [74682532, 74682725], [74682928, 74683063], [74683229, 74683399], [74684460, 74684502]] None
ENST00000441673 [[74682226, 74682301], [74682532, 74682725], [74682944, 74683063], [74683229, 74683399], [74684460, 74684665], [74686769, 74686872], [74686999, 74687176], [74687347, 74687973]] [[74682243, 74682301], [74682532, 74682725], [74682944, 74683063], [74683229, 74683399], [74684460, 74684665], [74686769, 74686816]]
ENST00000409917 [[74682228, 74682301], [74682532, 74682725], [74682944, 74683063], [74683229, 74683399], [74684548, 74684789]] [[74682243, 74682301], [74682532, 74682725], [74682944, 74683063], [74683229, 74683399], [74684548, 74684563]]
ENST00000471577 [[74682234, 74682725], [74682944, 74683063], [74683229, 74683399], [74684460, 74684498]] None
ENST00000473618 [[74682235, 74682423], [74682517, 74682725], [74682944, 74683063], [74683229, 74683399], [74684460, 74684554]] None
ENST00000409493 [[74682242, 74682301], [74682517, 74682725], [74682944, 74683063], [74683229, 74683399], [74684460, 74684527]] [[74682243, 74682301], [74682517, 74682725], [74682944, 74683063], [74683229, 74683399], [74684460, 74684527]]
ENST00000469849 [[74682243, 74682301], [74682944, 74683063], [74683229, 74683399], [74684460, 74684802]] None
ENST00000455562 [[74682618, 74682725], [74682944, 74683077], [74683229, 74683399], [74684460, 74684667]] [[74682618, 74682725], [74682944, 74683077], [74683229, 74683283]]
NM_031288 [[74682149, 74682301], [74682532, 74682725], [74682944, 74683063], [74683229, 74683399], [74684460, 74685087]] [[74682243, 74682301], [74682532, 74682725], [74682944, 74683063], [74683229, 74683399], [74684460, 74684991]]
Promoter
Chrom Start End Description
chr2 74682204 74682252 CAGE_peak_1_at_INO80B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I073851 73851114 73852775 0.75 [{'connected_gene': 'PCGF1', 'score': 13.27}, {'connected_gene': 'WBP1', 'score': 11.03}, {'connected_gene': 'DUSP11', 'score': 11.01}, {'connected_gene': 'INO80B', 'score': 10.8}, {'connected_gene': 'ENSG00000273245', 'score': 9.99}, {'connected_gene': 'TTC31', 'score': 9.94}, {'connected_gene': 'TPRKB', 'score': 4.69}, {'connected_gene': 'LOC105374806', 'score': 0.44}, {'connected_gene': 'LOC105374807', 'score': 0.34}, {'connected_gene': 'STAMBP', 'score': 0.34}]
chr2 GH02I074583 74583142 74584763 1.32 [{'connected_gene': 'LOXL3', 'score': 12.01}, {'connected_gene': 'DOK1', 'score': 11.78}, {'connected_gene': 'HTRA2', 'score': 11.63}, {'connected_gene': 'AUP1', 'score': 11.63}, {'connected_gene': 'TLX2', 'score': 11.34}, {'connected_gene': 'PCGF1', 'score': 11.33}, {'connected_gene': 'CCDC142', 'score': 11.26}, {'connected_gene': 'TTC31', 'score': 11.26}, {'connected_gene': 'DQX1', 'score': 11.12}, {'connected_gene': 'LBX2', 'score': 10.95}, {'connected_gene': 'M1AP', 'score': 10.33}, {'connected_gene': 'SEMA4F', 'score': 10.31}, {'connected_gene': 'INO80B', 'score': 4.57}, {'connected_gene': 'GC02M074608', 'score': 0.34}, {'connected_gene': 'GC02M074606', 'score': 0.34}]
chr2 GH02I074077 74077769 74078277 0.85 [{'connected_gene': 'DUSP11', 'score': 16.77}, {'connected_gene': 'PCGF1', 'score': 15.82}, {'connected_gene': 'CCDC142', 'score': 15.07}, {'connected_gene': 'ENSG00000273245', 'score': 14.66}, {'connected_gene': 'TTC31', 'score': 12.8}, {'connected_gene': 'MOGS', 'score': 11.78}, {'connected_gene': 'AUP1', 'score': 11.23}, {'connected_gene': 'HTRA2', 'score': 10.88}, {'connected_gene': 'MRPL53', 'score': 10.5}, {'connected_gene': 'INO80B', 'score': 10.41}, {'connected_gene': 'DGUOK-AS1', 'score': 5.44}, {'connected_gene': 'FNBP1P1', 'score': 0.26}, {'connected_gene': 'ENSG00000279181', 'score': 0.18}, {'connected_gene': 'TET3', 'score': 0.16}]
chr2 GH02I074480 74480906 74483934 2.07 [{'connected_gene': 'TTC31', 'score': 571.26}, {'connected_gene': 'CCDC142', 'score': 564.77}, {'connected_gene': 'LBX2', 'score': 23.1}, {'connected_gene': 'AUP1', 'score': 17.22}, {'connected_gene': 'MOGS', 'score': 14.69}, {'connected_gene': 'ENSG00000273245', 'score': 13.71}, {'connected_gene': 'PCGF1', 'score': 13.68}, {'connected_gene': 'DUSP11', 'score': 13.54}, {'connected_gene': 'MTHFD2', 'score': 12.01}, {'connected_gene': 'MOB1A', 'score': 10.08}, {'connected_gene': 'INO80B', 'score': 9.98}, {'connected_gene': 'MRPL53', 'score': 0.44}]
chr2 GH02I074292 74292264 74294358 0.78 [{'connected_gene': 'SLC4A5', 'score': 18.46}, {'connected_gene': 'INO80B', 'score': 5.03}, {'connected_gene': 'KRT18P26', 'score': 0.39}, {'connected_gene': 'ENSG00000264324', 'score': 0.19}, {'connected_gene': 'GC02P074217', 'score': 0.18}]
chr2 GH02I074177 74177342 74179690 2.03 [{'connected_gene': 'MOB1A', 'score': 562.69}, {'connected_gene': 'BOLA3-AS1', 'score': 26.69}, {'connected_gene': 'LOC107985899', 'score': 21.37}, {'connected_gene': 'DUSP11', 'score': 16.55}, {'connected_gene': 'HTRA2', 'score': 12.42}, {'connected_gene': 'BOLA3', 'score': 11.98}, {'connected_gene': 'MTHFD2', 'score': 11.93}, {'connected_gene': 'ENSG00000273245', 'score': 11.8}, {'connected_gene': 'AUP1', 'score': 10.51}, {'connected_gene': 'DGUOK-AS1', 'score': 10.21}, {'connected_gene': 'INO80B', 'score': 9.75}, {'connected_gene': 'TTC31', 'score': 9.75}]
chr2 GH02I074513 74513713 74516751 1.35 [{'connected_gene': 'TLX2', 'score': 550.77}, {'connected_gene': 'LBX2', 'score': 25.25}, {'connected_gene': 'WBP1', 'score': 20.3}, {'connected_gene': 'INO80B', 'score': 14.95}, {'connected_gene': 'PCGF1', 'score': 12.76}, {'connected_gene': 'ALMS1P1', 'score': 10.92}, {'connected_gene': 'MRPL53', 'score': 10.74}, {'connected_gene': 'CCDC142', 'score': 10.43}, {'connected_gene': 'ENSG00000159239', 'score': 9.95}, {'connected_gene': 'DQX1', 'score': 0.39}]
chr2 GH02I073906 73906485 73909977 0.83 [{'connected_gene': 'WBP1', 'score': 21.63}, {'connected_gene': 'PCGF1', 'score': 17.15}, {'connected_gene': 'INO80B', 'score': 16.54}, {'connected_gene': 'ALMS1', 'score': 14.05}, {'connected_gene': 'CCDC142', 'score': 13.5}, {'connected_gene': 'MRPL53', 'score': 11.37}, {'connected_gene': 'TTC31', 'score': 9.91}, {'connected_gene': 'GC02M073905', 'score': 0.77}, {'connected_gene': 'ACTG2', 'score': 0.37}]
chr2 GH02I074454 74454394 74459821 2.14 [{'connected_gene': 'WBP1', 'score': 570.83}, {'connected_gene': 'INO80B', 'score': 568.59}, {'connected_gene': 'PCGF1', 'score': 37.91}, {'connected_gene': 'TTC31', 'score': 36.87}, {'connected_gene': 'AUP1', 'score': 30.52}, {'connected_gene': 'MOGS', 'score': 27.49}, {'connected_gene': 'CCDC142', 'score': 26.62}, {'connected_gene': 'DUSP11', 'score': 25.34}, {'connected_gene': 'ENSG00000273245', 'score': 24.78}, {'connected_gene': 'LBX2', 'score': 23.12}, {'connected_gene': 'TPRKB', 'score': 12.37}, {'connected_gene': 'MOB1A', 'score': 10.09}, {'connected_gene': 'DGUOK-AS1', 'score': 9.79}, {'connected_gene': 'INO80B-WBP1', 'score': 0.77}, {'connected_gene': 'GC02M074444', 'score': 0.77}, {'connected_gene': 'GC02M074442', 'score': 0.77}]
chr2 GH02I074550 74550915 74556528 2.21 [{'connected_gene': 'DOK1', 'score': 555.78}, {'connected_gene': 'LOXL3', 'score': 550.77}, {'connected_gene': 'LBX2-AS1', 'score': 12.09}, {'connected_gene': 'HTRA2', 'score': 11.69}, {'connected_gene': 'AUP1', 'score': 11.69}, {'connected_gene': 'TLX2', 'score': 11.07}, {'connected_gene': 'PCGF1', 'score': 11.06}, {'connected_gene': 'DQX1', 'score': 10.7}, {'connected_gene': 'MRPL53', 'score': 10.67}, {'connected_gene': 'WBP1', 'score': 10.57}, {'connected_gene': 'MOGS', 'score': 10.41}, {'connected_gene': 'M1AP', 'score': 5.85}, {'connected_gene': 'INO80B', 'score': 4.5}]
chr2 GH02I074548 74548306 74550165 2.12 [{'connected_gene': 'DOK1', 'score': 550.77}, {'connected_gene': 'M1AP', 'score': 4.54}, {'connected_gene': 'INO80B', 'score': 4.51}, {'connected_gene': 'LOXL3', 'score': 0.44}]
chr2 GH02I074471 74471188 74473710 2.1 [{'connected_gene': 'MRPL53', 'score': 550.77}, {'connected_gene': 'LBX2', 'score': 22.48}, {'connected_gene': 'MTHFD2', 'score': 12.01}, {'connected_gene': 'WBP1', 'score': 11.07}, {'connected_gene': 'INO80B', 'score': 10.56}, {'connected_gene': 'DGUOK-AS1', 'score': 9.8}, {'connected_gene': 'MOGS', 'score': 0.44}, {'connected_gene': 'CCDC142', 'score': 0.39}]
chr2 GH02I074119 74119581 74121143 1.59 [{'connected_gene': 'FNBP1P1', 'score': 604.51}, {'connected_gene': 'LOC107985899', 'score': 43.13}, {'connected_gene': 'PCGF1', 'score': 36.3}, {'connected_gene': 'CCDC142', 'score': 35.48}, {'connected_gene': 'TTC31', 'score': 31.4}, {'connected_gene': 'DUSP11', 'score': 28.42}, {'connected_gene': 'ENSG00000273245', 'score': 26.53}, {'connected_gene': 'AUP1', 'score': 26.39}, {'connected_gene': 'MOGS', 'score': 24.32}, {'connected_gene': 'WBP1', 'score': 20.49}, {'connected_gene': 'MRPL53', 'score': 19.04}, {'connected_gene': 'INO80B', 'score': 18.41}, {'connected_gene': 'MTHFD2', 'score': 12.14}, {'connected_gene': 'HTRA2', 'score': 10.88}, {'connected_gene': 'MOB1A', 'score': 10.25}, {'connected_gene': 'ALMS1P1', 'score': 9.76}, {'connected_gene': 'ENSG00000279181', 'score': 0.13}]
chr2 GH02I074146 74146560 74149278 2.02 [{'connected_gene': 'BOLA3-AS1', 'score': 567.17}, {'connected_gene': 'BOLA3', 'score': 550.77}, {'connected_gene': 'TTC31', 'score': 20.55}, {'connected_gene': 'AUP1', 'score': 17.02}, {'connected_gene': 'MOGS', 'score': 14.38}, {'connected_gene': 'CCDC142', 'score': 14.05}, {'connected_gene': 'ENSG00000273245', 'score': 13.74}, {'connected_gene': 'DUSP11', 'score': 13.57}, {'connected_gene': 'PCGF1', 'score': 13.42}, {'connected_gene': 'LOC107985899', 'score': 12.62}, {'connected_gene': 'MOB1A', 'score': 10.32}, {'connected_gene': 'INO80B', 'score': 9.72}]
chr2 GH02I074414 74414270 74416480 0.74 [{'connected_gene': 'PIR49274', 'score': 550.77}, {'connected_gene': 'ENSG00000234521', 'score': 550.77}, {'connected_gene': 'ENSG00000272183', 'score': 15.27}, {'connected_gene': 'INO80B', 'score': 4.81}, {'connected_gene': 'C2orf81', 'score': 0.44}, {'connected_gene': 'ENSG00000159239', 'score': 0.44}]
chr2 GH02I073987 73987534 73987723 0.87 [{'connected_gene': 'PIR31933', 'score': 550.77}, {'connected_gene': 'TTC31', 'score': 20.53}, {'connected_gene': 'AUP1', 'score': 17.0}, {'connected_gene': 'MOGS', 'score': 14.37}, {'connected_gene': 'CCDC142', 'score': 14.04}, {'connected_gene': 'ENSG00000273245', 'score': 13.75}, {'connected_gene': 'DUSP11', 'score': 13.59}, {'connected_gene': 'PCGF1', 'score': 13.4}, {'connected_gene': 'MOB1A', 'score': 10.11}, {'connected_gene': 'INO80B', 'score': 9.71}, {'connected_gene': 'TET3', 'score': 0.77}, {'connected_gene': 'ENSG00000279181', 'score': 0.39}]
chr2 GH02I074405 74405380 74407545 0.62 [{'connected_gene': 'ENSG00000272183', 'score': 19.04}, {'connected_gene': 'SLC4A5', 'score': 12.31}, {'connected_gene': 'INO80B', 'score': 4.99}, {'connected_gene': 'ENSG00000234521', 'score': 0.44}, {'connected_gene': 'DCTN1', 'score': 0.39}, {'connected_gene': 'ENSG00000159239', 'score': 0.37}]
chr2 GH02I074363 74363777 74366698 0.31 [{'connected_gene': 'ENSG00000264324', 'score': 550.77}, {'connected_gene': 'SLC4A5', 'score': 11.47}, {'connected_gene': 'RTKN', 'score': 10.35}, {'connected_gene': 'C2orf81', 'score': 10.34}, {'connected_gene': 'WDR54', 'score': 10.34}, {'connected_gene': 'ENSG00000159239', 'score': 10.34}, {'connected_gene': 'INO80B', 'score': 4.57}, {'connected_gene': 'GC02M074371', 'score': 0.39}, {'connected_gene': 'DCTN1', 'score': 0.31}]
chr2 GH02I074196 74196814 74200680 2.11 [{'connected_gene': 'ENSG00000279070', 'score': 550.77}, {'connected_gene': 'MTHFD2', 'score': 550.77}, {'connected_gene': 'PCGF1', 'score': 40.46}, {'connected_gene': 'DUSP11', 'score': 38.6}, {'connected_gene': 'INO80B', 'score': 38.56}, {'connected_gene': 'ENSG00000273245', 'score': 37.39}, {'connected_gene': 'WBP1', 'score': 28.29}, {'connected_gene': 'AUP1', 'score': 23.63}, {'connected_gene': 'TTC31', 'score': 22.87}, {'connected_gene': 'MOB1A', 'score': 22.46}, {'connected_gene': 'HTRA2', 'score': 22.1}, {'connected_gene': 'SEMA4F', 'score': 22.05}, {'connected_gene': 'ALMS1', 'score': 21.77}, {'connected_gene': 'CCT7', 'score': 20.88}, {'connected_gene': 'BOLA3-AS1', 'score': 20.64}, {'connected_gene': 'WDR54', 'score': 19.46}, {'connected_gene': 'ALMS1P1', 'score': 18.66}, {'connected_gene': 'DGUOK-AS1', 'score': 18.29}, {'connected_gene': 'SLC4A5', 'score': 17.54}, {'connected_gene': 'MOGS', 'score': 14.27}, {'connected_gene': 'CCDC142', 'score': 14.06}, {'connected_gene': 'SMYD5', 'score': 14.03}, {'connected_gene': 'ENSG00000159239', 'score': 12.06}, {'connected_gene': 'DCTN1', 'score': 11.85}, {'connected_gene': 'BOLA3', 'score': 10.84}, {'connected_gene': 'ENSG00000270571', 'score': 10.82}, {'connected_gene': 'TPRKB', 'score': 10.77}, {'connected_gene': 'LOC107985899', 'score': 10.09}, {'connected_gene': 'GC02P074217', 'score': 0.37}]
chr2 GH02I074714 74714614 74716200 1.17 [{'connected_gene': 'GC02P074717', 'score': 550.77}, {'connected_gene': 'LOC102724497', 'score': 550.77}, {'connected_gene': 'INO80B', 'score': 15.4}, {'connected_gene': 'WBP1', 'score': 15.1}, {'connected_gene': 'GCFC2', 'score': 12.96}, {'connected_gene': 'DUSP11', 'score': 12.52}, {'connected_gene': 'HK2', 'score': 11.81}, {'connected_gene': 'SEMA4F', 'score': 10.97}, {'connected_gene': 'M1AP', 'score': 10.96}, {'connected_gene': 'PCGF1', 'score': 10.92}, {'connected_gene': 'ENSG00000270571', 'score': 10.84}, {'connected_gene': 'TPRKB', 'score': 10.75}, {'connected_gene': 'ENSG00000271452', 'score': 10.38}, {'connected_gene': 'ENSG00000159239', 'score': 10.25}, {'connected_gene': 'ENSG00000273245', 'score': 10.01}, {'connected_gene': 'LBX2-AS1', 'score': 4.24}, {'connected_gene': 'RPS28P5', 'score': 0.28}]

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