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
ENST00000474531 [[58551187, 58552422], [58552934, 58553091], [58555417, 58555592], [58574932, 58574996], [58612697, 58613337]] [[58552314, 58552422], [58552934, 58553091], [58555417, 58555592], [58574932, 58574996], [58612697, 58612721]]
ENST00000465970 [[58552945, 58553091], [58555417, 58555592], [58574932, 58574996], [58613142, 58613337]] [[58552945, 58553091], [58555417, 58555587]]
ENST00000394481 [[58549843, 58552422], [58552934, 58553091], [58555417, 58555592], [58556052, 58556150], [58563035, 58563491]] [[58552314, 58552422], [58552934, 58553091], [58555417, 58555587]]
ENST00000360997 [[58549843, 58552422], [58552934, 58553091], [58555417, 58555592], [58563035, 58563491]] [[58552314, 58552422], [58552934, 58553091], [58555417, 58555587]]
ENST00000464064 [[58551187, 58553091], [58555417, 58555592], [58563035, 58563115]] [[58552853, 58553091], [58555417, 58555587]]
ENST00000447756 [[58551578, 58552422], [58552934, 58553091], [58555417, 58555592], [58572584, 58572840]] [[58552314, 58552422], [58552934, 58553091], [58555417, 58555592], [58572584, 58572663]]
ENST00000497310 [[58594600, 58594984], [58612697, 58613147]] None
NM_001282714 [[58549838, 58552422], [58552934, 58553091], [58555417, 58555592], [58574932, 58574996], [58612697, 58613337]] [[58552314, 58552422], [58552934, 58553091], [58555417, 58555592], [58574932, 58574996], [58612697, 58612721]]
NM_007177 [[58549838, 58552422], [58552934, 58553091], [58555417, 58555592], [58556052, 58556150], [58563035, 58563491]] [[58552314, 58552422], [58552934, 58553091], [58555417, 58555587]]
NM_001076778 [[58549838, 58552422], [58552934, 58553091], [58555417, 58555592], [58563035, 58563491]] [[58552314, 58552422], [58552934, 58553091], [58555417, 58555587]]
NM_001282713 [[58549838, 58552422], [58552934, 58553091], [58555417, 58555592], [58572584, 58572840]] [[58552314, 58552422], [58552934, 58553091], [58555417, 58555592], [58572584, 58572663]]
Promoter
Chrom Start End Description
chr3 58563094 58563126 CAGE_peak_1_at_FAM107A_5end
chr3 58563176 58563187 CAGE_peak_3_at_FAM107A_5end
chr3 58563192 58563205 CAGE_peak_2_at_FAM107A_5end
chr3 58563295 58563305 CAGE_peak_10_at_FAM107A_5end
chr3 58572679 58572682 CAGE_peak_30_at_FAM107A_5end
chr3 58572689 58572703 CAGE_peak_6_at_FAM107A_5end
chr3 58572720 58572733 CAGE_peak_11_at_FAM107A_5end
chr3 58572734 58572746 CAGE_peak_8_at_FAM107A_5end
chr3 58572760 58572774 CAGE_peak_9_at_FAM107A_5end
chr3 58612803 58612815 CAGE_peak_15_at_FAM107A_5end
chr3 58612838 58612845 CAGE_peak_24_at_FAM107A_5end
chr3 58612849 58612850 CAGE_peak_32_at_FAM107A_5end
chr3 58612857 58612894 CAGE_peak_5_at_FAM107A_5end
chr3 58612895 58612914 CAGE_peak_12_at_FAM107A_5end
chr3 58613103 58613112 CAGE_peak_14_at_FAM107A_5end
chr3 58613256 58613263 CAGE_peak_18_at_FAM107A_5end
chr3 58613294 58613306 CAGE_peak_7_at_FAM107A_5end
chr3 58613323 58613342 CAGE_peak_4_at_FAM107A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I058322 58321377 58322247 0.66 [{'connected_gene': 'ACOX2', 'score': 10.62}, {'connected_gene': 'ABHD6', 'score': 10.47}, {'connected_gene': 'ENSG00000243384', 'score': 10.05}, {'connected_gene': 'FAM107A', 'score': 10.04}, {'connected_gene': 'ENSG00000272182', 'score': 7.35}, {'connected_gene': 'RPP14', 'score': 6.7}, {'connected_gene': 'PIR62243', 'score': 0.77}, {'connected_gene': 'ENSG00000273493', 'score': 0.44}]
chr3 GH03I058495 58495755 58497801 0.49 [{'connected_gene': 'ACOX2', 'score': 11.19}, {'connected_gene': 'PXK', 'score': 11.02}, {'connected_gene': 'HTD2', 'score': 10.58}, {'connected_gene': 'RPP14', 'score': 10.58}, {'connected_gene': 'ENSG00000243384', 'score': 9.88}, {'connected_gene': 'FAM107A', 'score': 9.82}, {'connected_gene': 'ENSG00000272360', 'score': 8.79}, {'connected_gene': 'ABHD6', 'score': 7.76}, {'connected_gene': 'KCTD6', 'score': 0.77}, {'connected_gene': 'RPL27P9', 'score': 0.39}]
chr3 GH03I058556 58556895 58558707 0.65 [{'connected_gene': 'ACOX2', 'score': 17.64}, {'connected_gene': 'FAM107A', 'score': 12.05}, {'connected_gene': 'FAM3D-AS1', 'score': 11.5}, {'connected_gene': 'HTD2', 'score': 10.25}, {'connected_gene': 'RPP14', 'score': 10.25}, {'connected_gene': 'FAM3D', 'score': 10.04}, {'connected_gene': 'ENSG00000243384', 'score': 0.39}]
chr3 GH03I058560 58560601 58562723 0.85 [{'connected_gene': 'ACOX2', 'score': 17.69}, {'connected_gene': 'FAM3D-AS1', 'score': 11.51}, {'connected_gene': 'FAM107A', 'score': 11.29}, {'connected_gene': 'HTD2', 'score': 10.25}, {'connected_gene': 'RPP14', 'score': 10.25}, {'connected_gene': 'FAM3D', 'score': 9.63}, {'connected_gene': 'ENSG00000243384', 'score': 0.39}]
chr3 GH03I058563 58563794 58563943 0.31 [{'connected_gene': 'ACOX2', 'score': 18.26}, {'connected_gene': 'FAM3D-AS1', 'score': 11.51}, {'connected_gene': 'FAM107A', 'score': 11.3}, {'connected_gene': 'HTD2', 'score': 10.25}, {'connected_gene': 'RPP14', 'score': 10.25}, {'connected_gene': 'FAM3D', 'score': 9.63}, {'connected_gene': 'ENSG00000243384', 'score': 0.44}]
chr3 GH03I058287 58287118 58288143 0.51 [{'connected_gene': 'ABHD6', 'score': 21.78}, {'connected_gene': 'DNASE1L3', 'score': 11.65}, {'connected_gene': 'PXK', 'score': 10.67}, {'connected_gene': 'FLNB-AS1', 'score': 10.4}, {'connected_gene': 'FLNB', 'score': 10.33}, {'connected_gene': 'ACOX2', 'score': 9.91}, {'connected_gene': 'ENSG00000243384', 'score': 9.44}, {'connected_gene': 'FAM107A', 'score': 9.44}, {'connected_gene': 'RPP14', 'score': 0.37}]
chr3 GH03I058332 58332175 58336743 2.28 [{'connected_gene': 'PXK', 'score': 560.03}, {'connected_gene': 'DENND6A', 'score': 80.28}, {'connected_gene': 'FLNB-AS1', 'score': 53.9}, {'connected_gene': 'FLNB', 'score': 51.17}, {'connected_gene': 'KCTD6', 'score': 33.91}, {'connected_gene': 'RPP14', 'score': 24.15}, {'connected_gene': 'PDE12', 'score': 22.54}, {'connected_gene': 'HTD2', 'score': 11.11}, {'connected_gene': 'FAM107A', 'score': 10.25}, {'connected_gene': 'ABHD6', 'score': 9.9}, {'connected_gene': 'ACOX2', 'score': 9.61}, {'connected_gene': 'ENSG00000272182', 'score': 7.51}, {'connected_gene': 'ENSG00000273493', 'score': 5.34}, {'connected_gene': 'LOC105377106', 'score': 0.37}]
chr3 GH03I058525 58525801 58527216 1.03 [{'connected_gene': 'PXK', 'score': 10.73}, {'connected_gene': 'ENSG00000243384', 'score': 10.69}, {'connected_gene': 'FAM107A', 'score': 10.59}, {'connected_gene': 'ACOX2', 'score': 6.69}, {'connected_gene': 'RPL27P9', 'score': 0.37}]
chr3 GH03I058325 58324601 58326200 1.13 [{'connected_gene': 'PXK', 'score': 15.41}, {'connected_gene': 'RPP14', 'score': 13.46}, {'connected_gene': 'KCTD6', 'score': 11.79}, {'connected_gene': 'ACOX2', 'score': 10.38}, {'connected_gene': 'ENSG00000243384', 'score': 10.05}, {'connected_gene': 'FAM107A', 'score': 10.04}, {'connected_gene': 'ABHD6', 'score': 9.97}, {'connected_gene': 'ENSG00000273493', 'score': 5.91}, {'connected_gene': 'DNASE1L3', 'score': 4.28}, {'connected_gene': 'PIR62243', 'score': 0.44}]
chr3 GH03I058382 58382960 58389838 1.37 [{'connected_gene': 'PXK', 'score': 42.33}, {'connected_gene': 'RPP14', 'score': 33.67}, {'connected_gene': 'FAM107A', 'score': 15.98}, {'connected_gene': 'HTD2', 'score': 11.49}, {'connected_gene': 'ACOX2', 'score': 10.31}, {'connected_gene': 'ENSG00000243384', 'score': 10.17}, {'connected_gene': 'PDHB', 'score': 7.05}, {'connected_gene': 'FLNB-AS1', 'score': 4.69}, {'connected_gene': 'ENSG00000275607', 'score': 0.44}, {'connected_gene': 'ENSG00000272182', 'score': 0.26}]
chr3 GH03I058518 58518160 58523994 1.18 [{'connected_gene': 'PXK', 'score': 18.23}, {'connected_gene': 'HTD2', 'score': 10.64}, {'connected_gene': 'RPP14', 'score': 10.64}, {'connected_gene': 'ENSG00000243384', 'score': 10.32}, {'connected_gene': 'FAM107A', 'score': 10.23}, {'connected_gene': 'ACOX2', 'score': 6.55}, {'connected_gene': 'ENSG00000272360', 'score': 4.7}, {'connected_gene': 'ABHD6', 'score': 4.56}, {'connected_gene': 'RPL27P9', 'score': 0.44}]
chr3 GH03I058462 58462835 58464443 1.11 [{'connected_gene': 'KCTD6', 'score': 24.33}, {'connected_gene': 'PDHB', 'score': 19.77}, {'connected_gene': 'RPP14', 'score': 17.81}, {'connected_gene': 'PXK', 'score': 14.95}, {'connected_gene': 'DENND6A', 'score': 14.26}, {'connected_gene': 'ACOX2', 'score': 11.4}, {'connected_gene': 'HTD2', 'score': 11.12}, {'connected_gene': 'ENSG00000243384', 'score': 10.55}, {'connected_gene': 'FAM107A', 'score': 10.5}, {'connected_gene': 'FLNB-AS1', 'score': 10.23}, {'connected_gene': 'ENSG00000272360', 'score': 0.31}]
chr3 GH03I058641 58641821 58643645 0.2 [{'connected_gene': 'FAM3D', 'score': 12.49}, {'connected_gene': 'FAM3D-AS1', 'score': 11.28}, {'connected_gene': 'ENSG00000243384', 'score': 10.72}, {'connected_gene': 'C3orf67-AS1', 'score': 10.11}, {'connected_gene': 'FAM107A', 'score': 7.63}, {'connected_gene': 'GC03M058625', 'score': 0.44}]
chr3 GH03I058693 58693853 58694486 0.74 [{'connected_gene': 'FAM3D', 'score': 11.75}, {'connected_gene': 'C3orf67-AS1', 'score': 10.48}, {'connected_gene': 'FAM107A', 'score': 10.35}, {'connected_gene': 'PXK', 'score': 5.55}, {'connected_gene': 'LOC105377109', 'score': 0.29}, {'connected_gene': 'GC03P058659', 'score': 0.29}]
chr3 GH03I058695 58695934 58696617 0.4 [{'connected_gene': 'FAM3D', 'score': 11.75}, {'connected_gene': 'C3orf67-AS1', 'score': 10.49}, {'connected_gene': 'FAM107A', 'score': 10.35}, {'connected_gene': 'LOC105377109', 'score': 0.29}, {'connected_gene': 'GC03P058659', 'score': 0.28}]
chr3 GH03I058626 58626252 58626349 0.25 [{'connected_gene': 'FAM107A', 'score': 557.81}, {'connected_gene': 'ENSG00000243384', 'score': 11.48}, {'connected_gene': 'ACOX2', 'score': 9.56}, {'connected_gene': 'PXK', 'score': 1.74}, {'connected_gene': 'FAM3D-AS1', 'score': 0.37}, {'connected_gene': 'GC03M058625', 'score': 0.31}]
chr3 GH03I058564 58564354 58566448 0.69 [{'connected_gene': 'FAM107A', 'score': 11.86}, {'connected_gene': 'ACOX2', 'score': 11.68}, {'connected_gene': 'FAM3D-AS1', 'score': 11.52}, {'connected_gene': 'PXK', 'score': 9.26}, {'connected_gene': 'ENSG00000243384', 'score': 0.44}]
chr3 GH03I058584 58584401 58586003 1.22 [{'connected_gene': 'FAM107A', 'score': 16.03}, {'connected_gene': 'ENSG00000243384', 'score': 4.6}, {'connected_gene': 'PXK', 'score': 3.02}, {'connected_gene': 'FAM3D-AS1', 'score': 0.34}]
chr3 GH03I058627 58626916 58630399 1.62 [{'connected_gene': 'FAM107A', 'score': 561.55}, {'connected_gene': 'PXK', 'score': 4.24}, {'connected_gene': 'GC03M058625', 'score': 0.34}, {'connected_gene': 'FAM3D-AS1', 'score': 0.34}]
chr3 GH03I058653 58653656 58654953 0.31 [{'connected_gene': 'FAM107A', 'score': 7.38}, {'connected_gene': 'GC03M058625', 'score': 0.77}, {'connected_gene': 'GC03P058659', 'score': 0.44}, {'connected_gene': 'FAM3D', 'score': 0.39}]
chr3 GH03I058324 58324201 58324400 0.74 [{'connected_gene': 'FAM107A', 'score': 9.35}, {'connected_gene': 'PIR62243', 'score': 0.77}, {'connected_gene': 'ENSG00000273493', 'score': 0.44}, {'connected_gene': 'RPP14', 'score': 0.37}]
chr3 GH03I058647 58647351 58648632 0.69 [{'connected_gene': 'FAM107A', 'score': 18.62}, {'connected_gene': 'FAM3D-AS1', 'score': 11.29}, {'connected_gene': 'KCTD6', 'score': 10.48}, {'connected_gene': 'GC03M058625', 'score': 0.77}, {'connected_gene': 'FAM3D', 'score': 0.37}]
chr3 GH03I058649 58649434 58650292 0.43 [{'connected_gene': 'FAM107A', 'score': 18.28}, {'connected_gene': 'FAM3D-AS1', 'score': 11.29}, {'connected_gene': 'GC03M058625', 'score': 0.77}, {'connected_gene': 'FAM3D', 'score': 0.37}]
chr3 GH03I058632 58632677 58633440 0.2 [{'connected_gene': 'FAM107A', 'score': 9.65}, {'connected_gene': 'GC03M058625', 'score': 0.37}, {'connected_gene': 'FAM3D-AS1', 'score': 0.31}]
chr3 GH03I058581 58581012 58581849 0.7 [{'connected_gene': 'FAM107A', 'score': 9.73}, {'connected_gene': 'ENSG00000243384', 'score': 5.28}, {'connected_gene': 'FAM3D-AS1', 'score': 0.34}]
chr3 GH03I058599 58599701 58600013 0.24 [{'connected_gene': 'FAM107A', 'score': 5.32}, {'connected_gene': 'FAM3D-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000243384', 'score': 0.31}]
chr3 GH03I058587 58587004 58587063 0.68 [{'connected_gene': 'FAM107A', 'score': 550.26}, {'connected_gene': 'ENSG00000243384', 'score': 0.39}, {'connected_gene': 'FAM3D-AS1', 'score': 0.37}]
chr3 GH03I058575 58575666 58578056 1.22 [{'connected_gene': 'FAM107A', 'score': 574.56}, {'connected_gene': 'FAM3D-AS1', 'score': 12.8}, {'connected_gene': 'ENSG00000243384', 'score': 0.77}]
chr3 GH03I058291 58291326 58300639 0.6 [{'connected_gene': 'RPP14', 'score': 33.29}, {'connected_gene': 'ABHD6', 'score': 21.78}, {'connected_gene': 'PXK', 'score': 20.51}, {'connected_gene': 'DNASE1L3', 'score': 11.64}, {'connected_gene': 'FLNB-AS1', 'score': 10.94}, {'connected_gene': 'FLNB', 'score': 10.88}, {'connected_gene': 'ACOX2', 'score': 10.17}, {'connected_gene': 'ENSG00000243384', 'score': 9.44}, {'connected_gene': 'FAM107A', 'score': 9.44}, {'connected_gene': 'ENSG00000272182', 'score': 7.43}, {'connected_gene': 'PDHB', 'score': 6.74}]
chr3 GH03I058282 58282553 58286044 0.31 [{'connected_gene': 'RPP14', 'score': 38.73}, {'connected_gene': 'ABHD6', 'score': 21.58}, {'connected_gene': 'FLNB', 'score': 14.9}, {'connected_gene': 'HTD2', 'score': 11.65}, {'connected_gene': 'DNASE1L3', 'score': 10.87}, {'connected_gene': 'FLNB-AS1', 'score': 10.42}, {'connected_gene': 'ENSG00000243384', 'score': 9.43}, {'connected_gene': 'FAM107A', 'score': 9.41}]
chr3 GH03I058469 58469934 58473315 1.73 [{'connected_gene': 'RPP14', 'score': 31.64}, {'connected_gene': 'PXK', 'score': 22.34}, {'connected_gene': 'PDHB', 'score': 19.19}, {'connected_gene': 'KCTD6', 'score': 14.29}, {'connected_gene': 'ACOX2', 'score': 11.41}, {'connected_gene': 'HTD2', 'score': 11.11}, {'connected_gene': 'FAM107A', 'score': 10.11}, {'connected_gene': 'ENSG00000243384', 'score': 9.91}, {'connected_gene': 'ENSG00000272182', 'score': 7.91}, {'connected_gene': 'ENSG00000272360', 'score': 0.37}]
chr3 GH03I058423 58423669 58426119 0.49 [{'connected_gene': 'RPP14', 'score': 32.43}, {'connected_gene': 'PXK', 'score': 23.9}, {'connected_gene': 'KCTD6', 'score': 11.56}, {'connected_gene': 'HTD2', 'score': 11.2}, {'connected_gene': 'ACOX2', 'score': 10.68}, {'connected_gene': 'FAM107A', 'score': 9.43}, {'connected_gene': 'ABHD6', 'score': 7.16}, {'connected_gene': 'ENSG00000272182', 'score': 0.77}, {'connected_gene': 'ENSG00000275607', 'score': 0.25}]
chr3 GH03I058389 58389938 58393023 0.38 [{'connected_gene': 'RPP14', 'score': 32.28}, {'connected_gene': 'PXK', 'score': 24.75}, {'connected_gene': 'HTD2', 'score': 11.09}, {'connected_gene': 'ACOX2', 'score': 10.3}, {'connected_gene': 'ENSG00000243384', 'score': 10.17}, {'connected_gene': 'FAM107A', 'score': 10.15}, {'connected_gene': 'FLNB-AS1', 'score': 10.12}, {'connected_gene': 'FLNB', 'score': 10.1}, {'connected_gene': 'PDHB', 'score': 7.07}, {'connected_gene': 'ABHD6', 'score': 6.27}, {'connected_gene': 'ENSG00000275607', 'score': 0.39}, {'connected_gene': 'ENSG00000272182', 'score': 0.28}]
chr3 GH03I058669 58669594 58673396 0.38 [{'connected_gene': 'FAM3D-AS1', 'score': 10.35}, {'connected_gene': 'FAM3D', 'score': 6.98}, {'connected_gene': 'PXK', 'score': 5.3}, {'connected_gene': 'FAM107A', 'score': 4.86}, {'connected_gene': 'LOC105377109', 'score': 0.44}, {'connected_gene': 'GC03P058659', 'score': 0.39}, {'connected_gene': 'C3orf67-AS1', 'score': 0.1}]
chr3 GH03I058640 58640580 58641179 0.69 [{'connected_gene': 'FAM3D-AS1', 'score': 10.85}, {'connected_gene': 'FAM3D', 'score': 10.76}, {'connected_gene': 'ENSG00000243384', 'score': 10.72}, {'connected_gene': 'C3orf67-AS1', 'score': 9.72}, {'connected_gene': 'GC03M058625', 'score': 0.39}, {'connected_gene': 'FAM107A', 'score': 0.39}]
chr3 GH03I058316 58316913 58319739 0.31 [{'connected_gene': 'PIR62243', 'score': 550.77}, {'connected_gene': 'ACOX2', 'score': 10.62}, {'connected_gene': 'ABHD6', 'score': 10.47}, {'connected_gene': 'ENSG00000243384', 'score': 10.05}, {'connected_gene': 'FAM107A', 'score': 10.04}, {'connected_gene': 'PXK', 'score': 9.55}, {'connected_gene': 'ENSG00000272182', 'score': 8.2}, {'connected_gene': 'RPP14', 'score': 6.73}, {'connected_gene': 'PDHB', 'score': 6.09}, {'connected_gene': 'HTD2', 'score': 0.39}]
chr3 GH03I058321 58321054 58321243 0.83 [{'connected_gene': 'PIR62243', 'score': 550.77}, {'connected_gene': 'ACOX2', 'score': 10.62}, {'connected_gene': 'ABHD6', 'score': 10.47}, {'connected_gene': 'ENSG00000243384', 'score': 10.05}, {'connected_gene': 'FAM107A', 'score': 10.04}, {'connected_gene': 'ENSG00000272182', 'score': 7.35}, {'connected_gene': 'ENSG00000273493', 'score': 0.44}, {'connected_gene': 'RPP14', 'score': 0.39}]
chr3 GH03I058568 58568601 58569200 0.54 [{'connected_gene': 'ENSG00000243384', 'score': 0.77}, {'connected_gene': 'ACOX2', 'score': 0.29}, {'connected_gene': 'FAM107A', 'score': 0.22}]
chr3 GH03I058427 58427770 58428806 0.38 [{'connected_gene': 'ENSG00000272182', 'score': 550.77}, {'connected_gene': 'PXK', 'score': 23.29}, {'connected_gene': 'RPP14', 'score': 17.71}, {'connected_gene': 'KCTD6', 'score': 11.57}, {'connected_gene': 'HTD2', 'score': 11.2}, {'connected_gene': 'ACOX2', 'score': 10.28}, {'connected_gene': 'FAM107A', 'score': 9.05}, {'connected_gene': 'ABHD6', 'score': 7.41}, {'connected_gene': 'PDHB', 'score': 0.44}]
chr3 GH03I058428 58428971 58429832 0.38 [{'connected_gene': 'ENSG00000272182', 'score': 550.77}, {'connected_gene': 'RPP14', 'score': 32.44}, {'connected_gene': 'PXK', 'score': 23.69}, {'connected_gene': 'KCTD6', 'score': 11.57}, {'connected_gene': 'HTD2', 'score': 11.2}, {'connected_gene': 'ACOX2', 'score': 10.28}, {'connected_gene': 'FAM107A', 'score': 9.05}, {'connected_gene': 'ABHD6', 'score': 5.46}, {'connected_gene': 'PDHB', 'score': 0.77}]

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