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
ENST00000264246 [[119243139, 119244596], [119246579, 119246688], [119248688, 119248784], [119255983, 119256265], [119263396, 119263714], [119276475, 119276775], [119278286, 119278449]] [[119246617, 119246688], [119248688, 119248784], [119255983, 119256265], [119263396, 119263714], [119276475, 119276575]]
ENST00000478182 [[119246310, 119246688], [119248688, 119248784], [119255983, 119256265], [119263396, 119263714], [119276475, 119276775], [119278286, 119278403]] [[119246617, 119246688], [119248688, 119248784], [119255983, 119256265], [119263396, 119263714], [119276475, 119276575]]
ENST00000383668 [[119246617, 119246688], [119263396, 119263714], [119276475, 119276575]] [[119246617, 119246688], [119263396, 119263714], [119276475, 119276575]]
ENST00000383669 [[119246617, 119246688], [119255983, 119256265], [119263396, 119263714], [119276475, 119276575]] [[119246617, 119246688], [119255983, 119256265], [119263396, 119263714], [119276475, 119276575]]
ENST00000463729 [[119263189, 119263714], [119276475, 119276687]] None
NM_005191 [[119243139, 119244596], [119246579, 119246688], [119248688, 119248784], [119255983, 119256265], [119263396, 119263714], [119276475, 119276775], [119278286, 119278481]] [[119246617, 119246688], [119248688, 119248784], [119255983, 119256265], [119263396, 119263714], [119276475, 119276575]]
Promoter
Chrom Start End Description
chr3 119276587 119276606 CAGE_peak_6_at_CD80_5end
chr3 119276758 119276770 CAGE_peak_9_at_CD80_5end
chr3 119276821 119276870 CAGE_peak_4_at_CD80_5end
chr3 119278376 119278390 CAGE_peak_2_at_CD80_5end
chr3 119278446 119278477 CAGE_peak_1_at_CD80_5end
chr3 119278493 119278513 CAGE_peak_3_at_CD80_5end
chr3 119278515 119278527 CAGE_peak_5_at_CD80_5end
chr3 119278920 119278937 CAGE_peak_7_at_CD80_5end
chr3 119278950 119278968 CAGE_peak_8_at_CD80_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I119655 119655442 119656140 0.2 [{'connected_gene': 'CD80', 'score': 10.86}, {'connected_gene': 'MAATS1', 'score': 4.78}, {'connected_gene': 'PLA1A', 'score': 4.45}, {'connected_gene': 'POPDC2', 'score': 0.44}, {'connected_gene': 'RPL10P7', 'score': 0.37}, {'connected_gene': 'COX17', 'score': 0.34}]
chr3 GH03I119582 119582294 119582443 0.85 [{'connected_gene': 'CD80', 'score': 11.55}, {'connected_gene': 'MAATS1', 'score': 9.49}, {'connected_gene': 'ENSG00000272967', 'score': 0.77}, {'connected_gene': 'ADPRH', 'score': 0.77}, {'connected_gene': 'PLA1A', 'score': 0.37}]
chr3 GH03I119306 119306394 119307727 0.38 [{'connected_gene': 'CD80', 'score': 9.84}, {'connected_gene': 'PIR60663', 'score': 0.44}, {'connected_gene': 'ARHGAP31', 'score': 0.39}, {'connected_gene': 'ARHGAP31-AS1', 'score': 0.37}]
chr3 GH03I119620 119620558 119622234 0.2 [{'connected_gene': 'CD80', 'score': 16.38}, {'connected_gene': 'PLA1A', 'score': 12.88}, {'connected_gene': 'POPDC2', 'score': 11.91}, {'connected_gene': 'ADPRH', 'score': 11.42}, {'connected_gene': 'COX17', 'score': 7.18}, {'connected_gene': 'GC03M119637', 'score': 0.39}, {'connected_gene': 'LOC105374062', 'score': 0.37}]
chr3 GH03I119570 119570001 119571999 1.3 [{'connected_gene': 'CD80', 'score': 19.97}, {'connected_gene': 'PLA1A', 'score': 12.4}, {'connected_gene': 'ARHGAP31', 'score': 12.16}, {'connected_gene': 'ADPRH', 'score': 11.85}, {'connected_gene': 'POPDC2', 'score': 10.64}, {'connected_gene': 'POGLUT1', 'score': 9.71}, {'connected_gene': 'TMEM39A', 'score': 9.71}, {'connected_gene': 'COX17', 'score': 2.25}]
chr3 GH03I119480 119480694 119481966 0.2 [{'connected_gene': 'CD80', 'score': 10.82}, {'connected_gene': 'TIMMDC1', 'score': 5.2}, {'connected_gene': 'POGLUT1', 'score': 4.53}, {'connected_gene': 'ENSG00000272662', 'score': 0.37}]
chr3 GH03I119303 119303001 119306175 0.99 [{'connected_gene': 'CD80', 'score': 9.85}, {'connected_gene': 'IGSF11', 'score': 6.99}, {'connected_gene': 'ARHGAP31', 'score': 6.11}, {'connected_gene': 'PIR60663', 'score': 0.77}, {'connected_gene': 'ARHGAP31-AS1', 'score': 0.37}]
chr3 GH03I119557 119557641 119563425 2.14 [{'connected_gene': 'CD80', 'score': 575.92}, {'connected_gene': 'ADPRH', 'score': 20.7}, {'connected_gene': 'ARHGAP31', 'score': 6.57}, {'connected_gene': 'TMEM39A', 'score': 1.33}]
chr3 GH03I119518 119518509 119518999 0.25 [{'connected_gene': 'CD80', 'score': 28.27}, {'connected_gene': 'ADPRH', 'score': 12.73}, {'connected_gene': 'POGLUT1', 'score': 8.28}, {'connected_gene': 'COX17', 'score': 1.61}, {'connected_gene': 'TMEM39A', 'score': 1.54}, {'connected_gene': 'ARHGAP31', 'score': 1.54}, {'connected_gene': 'CSRP2P1', 'score': 0.39}, {'connected_gene': 'PIR33513', 'score': 0.37}, {'connected_gene': 'GC03P119501', 'score': 0.37}, {'connected_gene': 'TIMMDC1', 'score': 0.34}]
chr3 GH03I119618 119618766 119620444 0.38 [{'connected_gene': 'CD80', 'score': 19.32}, {'connected_gene': 'ADPRH', 'score': 17.46}, {'connected_gene': 'PLA1A', 'score': 12.88}, {'connected_gene': 'POPDC2', 'score': 11.89}, {'connected_gene': 'COX17', 'score': 7.9}, {'connected_gene': 'POGLUT1', 'score': 6.41}, {'connected_gene': 'LOC105374062', 'score': 0.39}, {'connected_gene': 'GC03M119637', 'score': 0.37}]
chr3 GH03I119651 119651738 119652872 0.51 [{'connected_gene': 'MAATS1', 'score': 19.31}, {'connected_gene': 'ADPRH', 'score': 11.62}, {'connected_gene': 'CD80', 'score': 10.71}, {'connected_gene': 'RPL10P7', 'score': 5.18}, {'connected_gene': 'POPDC2', 'score': 0.39}]
chr3 GH03I119659 119659128 119663853 1.5 [{'connected_gene': 'POPDC2', 'score': 571.71}, {'connected_gene': 'RPL10P7', 'score': 13.77}, {'connected_gene': 'CD80', 'score': 10.14}, {'connected_gene': 'MAATS1', 'score': 9.85}, {'connected_gene': 'ARHGAP31', 'score': 6.01}, {'connected_gene': 'PLA1A', 'score': 4.44}, {'connected_gene': 'COX17', 'score': 0.37}]
chr3 GH03I119656 119656194 119658738 0.54 [{'connected_gene': 'POPDC2', 'score': 21.68}, {'connected_gene': 'COX17', 'score': 18.32}, {'connected_gene': 'CD80', 'score': 10.86}, {'connected_gene': 'MAATS1', 'score': 9.84}, {'connected_gene': 'ADPRH', 'score': 5.1}, {'connected_gene': 'RPL10P7', 'score': 5.05}, {'connected_gene': 'PLA1A', 'score': 4.26}]
chr3 GH03I119348 119348482 119354572 1.48 [{'connected_gene': 'ARHGAP31', 'score': 27.86}, {'connected_gene': 'ADPRH', 'score': 12.9}, {'connected_gene': 'ARHGAP31-AS1', 'score': 11.23}, {'connected_gene': 'CD80', 'score': 9.72}, {'connected_gene': 'B4GALT4', 'score': 8.24}, {'connected_gene': 'IGSF11', 'score': 5.51}, {'connected_gene': 'RPL10P7', 'score': 4.57}, {'connected_gene': 'COX17', 'score': 1.65}, {'connected_gene': 'GC03M119342', 'score': 0.44}, {'connected_gene': 'RNU6-1127P', 'score': 0.44}, {'connected_gene': 'GC03P119428', 'score': 0.18}]
chr3 GH03I119742 119742322 119742488 0.35 [{'connected_gene': 'ARHGAP31', 'score': 7.06}, {'connected_gene': 'ADPRH', 'score': 6.75}, {'connected_gene': 'COX17', 'score': 1.88}, {'connected_gene': 'CD80', 'score': 1.6}, {'connected_gene': 'GSK3B', 'score': 1.45}, {'connected_gene': 'ENSG00000239994', 'score': 0.44}, {'connected_gene': 'MAATS1', 'score': 0.28}]
chr3 GH03I119468 119468013 119470237 2.01 [{'connected_gene': 'POGLUT1', 'score': 591.92}, {'connected_gene': 'TMEM39A', 'score': 561.68}, {'connected_gene': 'RPS26P21', 'score': 14.74}, {'connected_gene': 'B4GALT4', 'score': 11.11}, {'connected_gene': 'CD80', 'score': 10.83}, {'connected_gene': 'FSTL1', 'score': 10.7}, {'connected_gene': 'TIMMDC1', 'score': 4.57}, {'connected_gene': 'ENSG00000272662', 'score': 0.31}]
chr3 GH03I119541 119541106 119542354 0.38 [{'connected_gene': 'POGLUT1', 'score': 4.56}, {'connected_gene': 'CSRP2P1', 'score': 0.39}, {'connected_gene': 'GC03M119536', 'score': 0.39}, {'connected_gene': 'CD80', 'score': 0.37}]
chr3 GH03I119538 119538224 119540202 0.52 [{'connected_gene': 'POGLUT1', 'score': 9.56}, {'connected_gene': 'CSRP2P1', 'score': 0.44}, {'connected_gene': 'GC03M119536', 'score': 0.39}, {'connected_gene': 'CD80', 'score': 0.34}]
chr3 GH03I119595 119595328 119598332 1.73 [{'connected_gene': 'PLA1A', 'score': 550.77}, {'connected_gene': 'CD80', 'score': 15.37}, {'connected_gene': 'ADPRH', 'score': 13.01}, {'connected_gene': 'COX17', 'score': 7.58}, {'connected_gene': 'ARHGAP31', 'score': 4.79}, {'connected_gene': 'TMEM39A', 'score': 1.65}, {'connected_gene': 'POGLUT1', 'score': 1.62}, {'connected_gene': 'ENSG00000272967', 'score': 0.37}]
chr3 GH03I119497 119497379 119501067 2.05 [{'connected_gene': 'TIMMDC1', 'score': 556.72}, {'connected_gene': 'PIR33513', 'score': 550.77}, {'connected_gene': 'GC03P119501', 'score': 550.77}, {'connected_gene': 'ENSG00000272662', 'score': 550.77}, {'connected_gene': 'POGLUT1', 'score': 39.23}, {'connected_gene': 'CD80', 'score': 11.47}, {'connected_gene': 'TMEM39A', 'score': 11.32}, {'connected_gene': 'ADPRH', 'score': 10.97}, {'connected_gene': 'POPDC2', 'score': 10.54}, {'connected_gene': 'MAATS1', 'score': 9.67}, {'connected_gene': 'IGSF11', 'score': 3.96}, {'connected_gene': 'CSRP2P1', 'score': 0.29}]
chr3 GH03I120214 120214020 120214533 0.31 [{'connected_gene': 'LOC442087', 'score': 5.0}, {'connected_gene': 'CD80', 'score': 4.75}, {'connected_gene': 'ENSG00000206721', 'score': 0.77}, {'connected_gene': 'PIR62989', 'score': 0.29}, {'connected_gene': 'GPR156', 'score': 0.19}]
chr3 GH03I119652 119651068 119651376 0.61 [{'connected_gene': 'RPL10P7', 'score': 15.02}, {'connected_gene': 'ADPRH', 'score': 11.62}, {'connected_gene': 'CD80', 'score': 10.71}, {'connected_gene': 'MAATS1', 'score': 10.2}, {'connected_gene': 'NR1I2', 'score': 7.26}, {'connected_gene': 'POPDC2', 'score': 0.39}]
chr3 GH03I119529 119529670 119530507 0.2 [{'connected_gene': 'CSRP2P1', 'score': 550.77}, {'connected_gene': 'ADPRH', 'score': 11.69}, {'connected_gene': 'POGLUT1', 'score': 8.8}, {'connected_gene': 'CD80', 'score': 0.31}, {'connected_gene': 'PIR33513', 'score': 0.29}, {'connected_gene': 'GC03P119501', 'score': 0.29}]
chr3 GH03I119649 119649987 119650358 0.75 [{'connected_gene': 'ADPRH', 'score': 17.06}, {'connected_gene': 'CD80', 'score': 10.71}, {'connected_gene': 'MAATS1', 'score': 10.2}, {'connected_gene': 'NR1I2', 'score': 1.72}, {'connected_gene': 'RPL10P7', 'score': 0.39}, {'connected_gene': 'POPDC2', 'score': 0.37}]
chr3 GH03I119578 119578638 119581053 2.07 [{'connected_gene': 'ADPRH', 'score': 571.02}, {'connected_gene': 'ENSG00000272967', 'score': 550.77}, {'connected_gene': 'CD80', 'score': 17.36}, {'connected_gene': 'MAATS1', 'score': 9.49}, {'connected_gene': 'PLA1A', 'score': 0.37}]
chr3 GH03I119626 119626787 119631999 1.5 [{'connected_gene': 'ADPRH', 'score': 32.83}, {'connected_gene': 'MAATS1', 'score': 19.08}, {'connected_gene': 'RPL10P7', 'score': 16.7}, {'connected_gene': 'COX17', 'score': 13.97}, {'connected_gene': 'CD80', 'score': 12.06}, {'connected_gene': 'POPDC2', 'score': 11.76}, {'connected_gene': 'ARHGAP31', 'score': 11.07}, {'connected_gene': 'PLA1A', 'score': 5.9}, {'connected_gene': 'GPR156', 'score': 5.1}, {'connected_gene': 'GSK3B', 'score': 1.98}, {'connected_gene': 'GC03M119637', 'score': 0.44}, {'connected_gene': 'LOC105374062', 'score': 0.34}]
chr3 GH03I119627 119626334 119626547 0.44 [{'connected_gene': 'ADPRH', 'score': 19.09}, {'connected_gene': 'POPDC2', 'score': 11.76}, {'connected_gene': 'CD80', 'score': 10.96}, {'connected_gene': 'MAATS1', 'score': 9.77}, {'connected_gene': 'PLA1A', 'score': 5.57}, {'connected_gene': 'ARHGAP31', 'score': 5.12}, {'connected_gene': 'GSK3B', 'score': 1.45}, {'connected_gene': 'GC03M119637', 'score': 0.44}, {'connected_gene': 'LOC105374062', 'score': 0.34}]
chr3 GH03I119612 119612368 119617120 0.31 [{'connected_gene': 'ADPRH', 'score': 24.93}, {'connected_gene': 'POPDC2', 'score': 11.88}, {'connected_gene': 'CD80', 'score': 11.4}, {'connected_gene': 'COX17', 'score': 7.53}, {'connected_gene': 'RPL10P7', 'score': 5.87}, {'connected_gene': 'GPR156', 'score': 5.68}, {'connected_gene': 'LOC105374062', 'score': 0.44}, {'connected_gene': 'PLA1A', 'score': 0.37}, {'connected_gene': 'GC03M119637', 'score': 0.34}]
chr3 GH03I119554 119554952 119556982 1.33 [{'connected_gene': 'ADPRH', 'score': 14.2}, {'connected_gene': 'ARHGAP31', 'score': 10.86}, {'connected_gene': 'CD80', 'score': 10.74}, {'connected_gene': 'TIMMDC1', 'score': 5.58}, {'connected_gene': 'COX17', 'score': 1.67}, {'connected_gene': 'GC03M119536', 'score': 0.77}]
chr3 GH03I119592 119592989 119593156 0.47 [{'connected_gene': 'ADPRH', 'score': 15.47}, {'connected_gene': 'ARHGAP31', 'score': 12.02}, {'connected_gene': 'COX17', 'score': 2.39}, {'connected_gene': 'CD80', 'score': 2.26}, {'connected_gene': 'PLA1A', 'score': 0.77}, {'connected_gene': 'ENSG00000272967', 'score': 0.39}]
chr3 GH03I119585 119585293 119586600 0.85 [{'connected_gene': 'ADPRH', 'score': 18.71}, {'connected_gene': 'ARHGAP31', 'score': 11.16}, {'connected_gene': 'COX17', 'score': 2.26}, {'connected_gene': 'CD80', 'score': 1.53}, {'connected_gene': 'ENSG00000272967', 'score': 0.44}, {'connected_gene': 'PLA1A', 'score': 0.39}]
chr3 GH03I119321 119321625 119324330 1.98 [{'connected_gene': 'ARHGAP31-AS1', 'score': 550.77}, {'connected_gene': 'ARHGAP31', 'score': 15.12}, {'connected_gene': 'ADPRH', 'score': 12.8}, {'connected_gene': 'B4GALT4', 'score': 4.59}, {'connected_gene': 'COX17', 'score': 2.14}, {'connected_gene': 'CD80', 'score': 1.61}, {'connected_gene': 'GC03M119342', 'score': 0.37}, {'connected_gene': 'RNU6-1127P', 'score': 0.37}]
chr3 GH03I119320 119320760 119321200 1.03 [{'connected_gene': 'ARHGAP31-AS1', 'score': 550.77}, {'connected_gene': 'ARHGAP31', 'score': 9.11}, {'connected_gene': 'ADPRH', 'score': 6.96}, {'connected_gene': 'COX17', 'score': 1.98}, {'connected_gene': 'CD80', 'score': 1.26}, {'connected_gene': 'PIR60663', 'score': 0.34}]
chr3 GH03I119675 119675594 119678214 2.23 [{'connected_gene': 'COX17', 'score': 565.02}, {'connected_gene': 'MAATS1', 'score': 20.23}, {'connected_gene': 'POPDC2', 'score': 12.21}, {'connected_gene': 'CD80', 'score': 11.0}, {'connected_gene': 'LOC105374063', 'score': 0.39}]
chr3 GH03I119654 119653180 119653499 0.2 [{'connected_gene': 'COX17', 'score': 11.81}, {'connected_gene': 'ADPRH', 'score': 11.62}, {'connected_gene': 'CD80', 'score': 10.71}, {'connected_gene': 'MAATS1', 'score': 10.21}, {'connected_gene': 'POPDC2', 'score': 0.39}, {'connected_gene': 'RPL10P7', 'score': 0.37}]
chr3 GH03I119653 119653655 119655195 0.2 [{'connected_gene': 'COX17', 'score': 18.29}, {'connected_gene': 'ADPRH', 'score': 11.61}, {'connected_gene': 'CD80', 'score': 10.86}, {'connected_gene': 'MAATS1', 'score': 10.21}, {'connected_gene': 'PLA1A', 'score': 4.46}, {'connected_gene': 'POPDC2', 'score': 0.39}, {'connected_gene': 'RPL10P7', 'score': 0.37}]
chr3 GH03I119427 119427582 119427982 0.55 [{'connected_gene': 'GC03P119428', 'score': 550.77}, {'connected_gene': 'CD80', 'score': 2.08}, {'connected_gene': 'ARHGAP31', 'score': 1.97}, {'connected_gene': 'ADPRH', 'score': 1.47}, {'connected_gene': 'RNU6-1127P', 'score': 0.17}, {'connected_gene': 'GC03M119342', 'score': 0.17}]
chr3 GH03I119548 119548975 119552269 0.69 [{'connected_gene': 'GC03M119536', 'score': 550.77}, {'connected_gene': 'POGLUT1', 'score': 6.22}, {'connected_gene': 'TIMMDC1', 'score': 5.95}, {'connected_gene': 'GSK3B', 'score': 4.4}, {'connected_gene': 'CD80', 'score': 0.44}, {'connected_gene': 'CSRP2P1', 'score': 0.37}]

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