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
ENST00000264245 [[119013219, 119013851], [119084162, 119084265], [119087218, 119087363], [119099750, 119099833], [119101138, 119101246], [119101930, 119102073], [119109631, 119109830], [119112313, 119112438], [119118045, 119118108], [119120668, 119121244], [119128342, 119128623], [119132702, 119139561]] [[119013751, 119013851], [119084162, 119084265], [119087218, 119087363], [119099750, 119099833], [119101138, 119101246], [119101930, 119102073], [119109631, 119109830], [119112313, 119112438], [119118045, 119118108], [119120668, 119121244], [119128342, 119128623], [119132702, 119135111]]
ENST00000482743 [[119043738, 119043805], [119084162, 119084265], [119087218, 119087363], [119099750, 119099833], [119101138, 119101246], [119101930, 119101975]] [[119043792, 119043805], [119084162, 119084265], [119087218, 119087363], [119099750, 119099833], [119101138, 119101246], [119101930, 119101975]]
NM_020754 [[119013219, 119013851], [119084162, 119084265], [119087218, 119087363], [119099750, 119099833], [119101138, 119101246], [119101930, 119102073], [119109631, 119109830], [119112313, 119112438], [119118045, 119118108], [119120668, 119121244], [119128342, 119128623], [119132702, 119138323]] [[119013751, 119013851], [119084162, 119084265], [119087218, 119087363], [119099750, 119099833], [119101138, 119101246], [119101930, 119102073], [119109631, 119109830], [119112313, 119112438], [119118045, 119118108], [119120668, 119121244], [119128342, 119128623], [119132702, 119135111]]
Promoter
Chrom Start End Description
chr3 119012877 119012889 CAGE_peak_8_at_ARHGAP31_5end
chr3 119012895 119012908 CAGE_peak_6_at_ARHGAP31_5end
chr3 119012922 119012937 CAGE_peak_7_at_ARHGAP31_5end
chr3 119013024 119013027 CAGE_peak_12_at_ARHGAP31_5end
chr3 119013094 119013116 CAGE_peak_5_at_ARHGAP31_5end
chr3 119013160 119013180 CAGE_peak_4_at_ARHGAP31_5end
chr3 119013185 119013306 CAGE_peak_1_at_ARHGAP31_5end
chr3 119013409 119013419 CAGE_peak_9_at_ARHGAP31_5end
chr3 119013434 119013460 CAGE_peak_3_at_ARHGAP31_5end
chr3 119013476 119013540 CAGE_peak_2_at_ARHGAP31_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 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 GH03I119794 119794331 119797766 1.64 [{'connected_gene': 'MAATS1', 'score': 15.99}, {'connected_gene': 'ENSG00000239994', 'score': 10.39}, {'connected_gene': 'NR1I2', 'score': 6.73}, {'connected_gene': 'ARHGAP31', 'score': 4.85}, {'connected_gene': 'PHBP8', 'score': 0.77}, {'connected_gene': 'GC03P119973', 'score': 0.1}, {'connected_gene': 'GC03M119752', 'score': 0.06}]
chr3 GH03I119236 119236531 119241764 2.18 [{'connected_gene': 'B4GALT4', 'score': 561.95}, {'connected_gene': 'ARHGAP31', 'score': 10.54}, {'connected_gene': 'GSK3B', 'score': 4.15}, {'connected_gene': 'GC03M119181', 'score': 0.39}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.39}]
chr3 GH03I119256 119256134 119256323 0.31 [{'connected_gene': 'B4GALT4', 'score': 0.37}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.31}, {'connected_gene': 'ARHGAP31', 'score': 0.28}]
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 GH03I119423 119423450 119423733 0.23 [{'connected_gene': 'ARHGAP31', 'score': 6.7}, {'connected_gene': 'ADPRH', 'score': 3.16}, {'connected_gene': 'NR1I2', 'score': 1.31}, {'connected_gene': 'GC03P119428', 'score': 0.77}, {'connected_gene': 'RNU6-1127P', 'score': 0.18}, {'connected_gene': 'GC03M119342', 'score': 0.18}]
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 GH03I119359 119359481 119362327 0.43 [{'connected_gene': 'ARHGAP31', 'score': 15.14}, {'connected_gene': 'ARHGAP31-AS1', 'score': 10.69}, {'connected_gene': 'RPL10P7', 'score': 4.49}, {'connected_gene': 'RNU6-1127P', 'score': 0.37}, {'connected_gene': 'GC03M119342', 'score': 0.37}, {'connected_gene': 'GC03P119428', 'score': 0.2}]
chr3 GH03I119345 119345838 119346721 0.58 [{'connected_gene': 'ARHGAP31', 'score': 16.39}, {'connected_gene': 'ARHGAP31-AS1', 'score': 11.5}, {'connected_gene': 'IGSF11', 'score': 5.57}, {'connected_gene': 'RNU6-1127P', 'score': 0.77}, {'connected_gene': 'GC03M119342', 'score': 0.77}, {'connected_gene': 'GC03P119428', 'score': 0.18}]
chr3 GH03I119292 119292696 119297769 2.06 [{'connected_gene': 'ARHGAP31', 'score': 555.2}, {'connected_gene': 'ARHGAP31-AS1', 'score': 11.95}, {'connected_gene': 'IGSF11', 'score': 7.6}, {'connected_gene': 'RPS26P21', 'score': 0.77}]
chr3 GH03I119329 119329063 119331237 0.66 [{'connected_gene': 'ARHGAP31', 'score': 4.56}, {'connected_gene': 'ARHGAP31-AS1', 'score': 0.44}, {'connected_gene': 'RNU6-1127P', 'score': 0.39}, {'connected_gene': 'GC03M119342', 'score': 0.39}]
chr3 GH03I119331 119331800 119332001 0.4 [{'connected_gene': 'ARHGAP31', 'score': 4.71}, {'connected_gene': 'ARHGAP31-AS1', 'score': 0.44}, {'connected_gene': 'RNU6-1127P', 'score': 0.39}, {'connected_gene': 'GC03M119342', 'score': 0.39}]
chr3 GH03I119425 119425729 119426147 0.25 [{'connected_gene': 'ARHGAP31', 'score': 3.27}, {'connected_gene': 'COX17', 'score': 1.86}, {'connected_gene': 'ADPRH', 'score': 1.71}, {'connected_gene': 'GC03P119428', 'score': 0.77}, {'connected_gene': 'RNU6-1127P', 'score': 0.18}, {'connected_gene': 'GC03M119342', 'score': 0.18}]
chr3 GH03I119416 119416803 119419267 0.8 [{'connected_gene': 'POGLUT1', 'score': 27.88}, {'connected_gene': 'GC03P119428', 'score': 0.39}, {'connected_gene': 'RNU6-1127P', 'score': 0.18}, {'connected_gene': 'GC03M119342', 'score': 0.18}, {'connected_gene': 'ARHGAP31', 'score': 0.13}]
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 GH03I119635 119635913 119640405 1.77 [{'connected_gene': 'RPL10P7', 'score': 566.9}, {'connected_gene': 'ADPRH', 'score': 16.22}, {'connected_gene': 'COX17', 'score': 12.37}, {'connected_gene': 'ARHGAP31', 'score': 11.64}, {'connected_gene': 'MAATS1', 'score': 9.8}, {'connected_gene': 'PLA1A', 'score': 4.5}, {'connected_gene': 'GSK3B', 'score': 2.07}, {'connected_gene': 'GC03M119637', 'score': 0.77}, {'connected_gene': 'POPDC2', 'score': 0.31}]
chr3 GH03I119257 119256375 119259278 0.79 [{'connected_gene': 'IGSF11', 'score': 10.95}, {'connected_gene': 'B4GALT4', 'score': 7.2}, {'connected_gene': 'ARHGAP31', 'score': 4.81}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.29}]
chr3 GH03I119015 119015687 119017468 0.2 [{'connected_gene': 'IGSF11', 'score': 5.1}, {'connected_gene': 'ARHGAP31', 'score': 4.23}, {'connected_gene': 'GC03M119012', 'score': 0.77}, {'connected_gene': 'IGSF11-AS1', 'score': 0.19}]
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 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 GH03I119340 119340034 119341577 0.38 [{'connected_gene': 'RNU6-1127P', 'score': 550.77}, {'connected_gene': 'GC03M119342', 'score': 550.77}, {'connected_gene': 'ARHGAP31', 'score': 16.65}, {'connected_gene': 'IGSF11', 'score': 5.44}, {'connected_gene': 'ARHGAP31-AS1', 'score': 0.37}]
chr3 GH03I119309 119309099 119312931 1.07 [{'connected_gene': 'RNU6-1127P', 'score': 10.94}, {'connected_gene': 'IGSF11', 'score': 8.69}, {'connected_gene': 'B4GALT4', 'score': 5.46}, {'connected_gene': 'ARHGAP31', 'score': 5.22}, {'connected_gene': 'ARHGAP31-AS1', 'score': 0.39}, {'connected_gene': 'PIR60663', 'score': 0.39}]
chr3 GH03I119332 119332600 119333001 1.12 [{'connected_gene': 'RNU6-1127P', 'score': 0.44}, {'connected_gene': 'GC03M119342', 'score': 0.44}, {'connected_gene': 'ARHGAP31-AS1', 'score': 0.39}, {'connected_gene': 'ARHGAP31', 'score': 0.28}]
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 GH03I119357 119357201 119357600 0.51 [{'connected_gene': 'ARHGAP31-AS1', 'score': 11.21}, {'connected_gene': 'ARHGAP31', 'score': 11.12}, {'connected_gene': 'RNU6-1127P', 'score': 0.37}, {'connected_gene': 'GC03M119342', 'score': 0.37}, {'connected_gene': 'GC03P119428', 'score': 0.19}]
chr3 GH03I119278 119278996 119280200 0.78 [{'connected_gene': 'ARHGAP31-AS1', 'score': 11.42}, {'connected_gene': 'RNU6-1127P', 'score': 11.12}, {'connected_gene': 'ARHGAP31', 'score': 7.71}, {'connected_gene': 'IGSF11', 'score': 7.41}, {'connected_gene': 'B4GALT4', 'score': 0.28}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.23}]
chr3 GH03I119275 119275054 119275183 0.74 [{'connected_gene': 'ARHGAP31-AS1', 'score': 11.13}, {'connected_gene': 'RNU6-1127P', 'score': 10.53}, {'connected_gene': 'IGSF11', 'score': 4.77}, {'connected_gene': 'ARHGAP31', 'score': 0.37}, {'connected_gene': 'B4GALT4', 'score': 0.29}, {'connected_gene': 'B4GALT4-AS1', 'score': 0.25}]
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 GH03I119300 119300401 119302318 1.13 [{'connected_gene': 'PIR60663', 'score': 550.77}, {'connected_gene': 'ARHGAP31', 'score': 14.65}, {'connected_gene': 'ARHGAP31-AS1', 'score': 11.18}, {'connected_gene': 'ADPRH', 'score': 6.12}, {'connected_gene': 'B4GALT4', 'score': 4.88}]
chr3 GH03I119401 119401168 119401303 0.23 [{'connected_gene': 'GC03P119428', 'score': 0.31}, {'connected_gene': 'RNU6-1127P', 'score': 0.22}, {'connected_gene': 'GC03M119342', 'score': 0.22}, {'connected_gene': 'ARHGAP31', 'score': 0.14}]