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
ENST00000438902 [[74119440, 74119603], [74120070, 74120178], [74128402, 74128564], [74129486, 74129615], [74135416, 74135910], [74136181, 74136266], [74140611, 74140773], [74141806, 74141998], [74143710, 74143892], [74146558, 74146802]] [[74128438, 74128564], [74129486, 74129615], [74135416, 74135479]]
ENST00000473016 [[74120077, 74120178], [74128402, 74128564], [74129486, 74129861]] None
ENST00000429756 [[74120093, 74120178], [74128402, 74128607], [74135799, 74135910], [74136181, 74136266], [74140611, 74140719]] [[74128438, 74128597]]
ENST00000409731 [[74120093, 74120178], [74128402, 74128564], [74135799, 74135910], [74136181, 74136266], [74140611, 74140773], [74141806, 74141998], [74143710, 74143892], [74146558, 74146992]] [[74128438, 74128564], [74135799, 74135910], [74136181, 74136266], [74140611, 74140773], [74141806, 74141998], [74143710, 74143892], [74146558, 74146702]]
ENST00000345517 [[74120105, 74120178], [74128402, 74128564], [74129486, 74129615], [74135799, 74135910], [74136181, 74136266], [74140611, 74140773], [74141806, 74141998], [74143710, 74143892], [74146558, 74146992]] [[74128438, 74128564], [74129486, 74129615], [74135799, 74135910], [74136181, 74136266], [74140611, 74140773], [74141806, 74141998], [74143710, 74143892], [74146558, 74146702]]
ENST00000409918 [[74120108, 74120178], [74128402, 74128564], [74129486, 74129615], [74129750, 74130316]] [[74128438, 74128564], [74129486, 74129615], [74129750, 74129855]]
ENST00000442912 [[74120108, 74120178], [74128402, 74128564], [74129486, 74129615], [74135799, 74135978]] [[74128438, 74128564], [74129486, 74129615], [74135799, 74135978]]
ENST00000468543 [[74120134, 74120178], [74128402, 74128932]] None
ENST00000409624 [[74120134, 74120178], [74123878, 74124441], [74128402, 74128564], [74129486, 74129615], [74135799, 74135910], [74136181, 74136266], [74140611, 74140773], [74141806, 74141998], [74143710, 74143892], [74146558, 74146992]] [[74128438, 74128564], [74129486, 74129615], [74135799, 74135910], [74136181, 74136266], [74140611, 74140773], [74141806, 74141998], [74143710, 74143892], [74146558, 74146702]]
NM_001199893 [[74120092, 74120178], [74128402, 74128564], [74135799, 74135910], [74136181, 74136266], [74140611, 74140773], [74141806, 74141998], [74143710, 74143892], [74146558, 74146780]] [[74128438, 74128564], [74135799, 74135910], [74136181, 74136266], [74140611, 74140773], [74141806, 74141998], [74143710, 74143892], [74146558, 74146702]]
NM_001615 [[74120092, 74120178], [74128402, 74128564], [74129486, 74129615], [74135799, 74135910], [74136181, 74136266], [74140611, 74140773], [74141806, 74141998], [74143710, 74143892], [74146558, 74146780]] [[74128438, 74128564], [74129486, 74129615], [74135799, 74135910], [74136181, 74136266], [74140611, 74140773], [74141806, 74141998], [74143710, 74143892], [74146558, 74146702]]
Promoter
Chrom Start End Description
chr2 74120126 74120142 CAGE_peak_1_at_ACTG2_5end
chr2 74128392 74128423 CAGE_peak_2_at_ACTG2_5end
chr2 74128444 74128468 CAGE_peak_4_at_ACTG2_5end
chr2 74128496 74128516 CAGE_peak_5_at_ACTG2_5end
chr2 74128518 74128535 CAGE_peak_3_at_ACTG2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I073839 73839000 73839401 0.58 [{'connected_gene': 'ACTG2', 'score': 11.09}, {'connected_gene': 'TET3', 'score': 10.64}, {'connected_gene': 'BOLA3', 'score': 10.24}, {'connected_gene': 'BOLA3-AS1', 'score': 10.24}, {'connected_gene': 'LOC107985899', 'score': 9.93}, {'connected_gene': 'SLC4A5', 'score': 8.89}, {'connected_gene': 'TPRKB', 'score': 5.12}, {'connected_gene': 'LOC105374807', 'score': 0.44}, {'connected_gene': 'STAMBP', 'score': 0.39}, {'connected_gene': 'LOC105374806', 'score': 0.37}]
chr2 GH02I073841 73841488 73843482 0.84 [{'connected_gene': 'ACTG2', 'score': 11.11}, {'connected_gene': 'TET3', 'score': 10.64}, {'connected_gene': 'BOLA3', 'score': 10.24}, {'connected_gene': 'BOLA3-AS1', 'score': 10.24}, {'connected_gene': 'LOC107985899', 'score': 9.93}, {'connected_gene': 'SLC4A5', 'score': 8.89}, {'connected_gene': 'STAMBP', 'score': 8.26}, {'connected_gene': 'ALMS1P1', 'score': 5.92}, {'connected_gene': 'LOC105374807', 'score': 0.39}, {'connected_gene': 'LOC105374806', 'score': 0.37}]
chr2 GH02I073838 73838001 73838800 0.69 [{'connected_gene': 'ACTG2', 'score': 11.09}, {'connected_gene': 'TET3', 'score': 10.64}, {'connected_gene': 'BOLA3', 'score': 10.24}, {'connected_gene': 'BOLA3-AS1', 'score': 10.24}, {'connected_gene': 'LOC107985899', 'score': 9.93}, {'connected_gene': 'SLC4A5', 'score': 8.89}, {'connected_gene': 'LOC105374807', 'score': 0.44}, {'connected_gene': 'STAMBP', 'score': 0.44}, {'connected_gene': 'LOC105374806', 'score': 0.37}]
chr2 GH02I073931 73931549 73932992 0.83 [{'connected_gene': 'ACTG2', 'score': 10.7}, {'connected_gene': 'TET3', 'score': 10.48}, {'connected_gene': 'BOLA3', 'score': 9.77}, {'connected_gene': 'BOLA3-AS1', 'score': 9.77}, {'connected_gene': 'LOC107985899', 'score': 9.76}, {'connected_gene': 'DGUOK', 'score': 0.44}, {'connected_gene': 'GC02M073969', 'score': 0.28}]
chr2 GH02I073869 73869778 73871177 0.78 [{'connected_gene': 'ACTG2', 'score': 12.87}, {'connected_gene': 'DGUOK', 'score': 11.45}, {'connected_gene': 'BOLA3', 'score': 10.19}, {'connected_gene': 'BOLA3-AS1', 'score': 10.19}, {'connected_gene': 'STAMBP', 'score': 8.19}, {'connected_gene': 'HTRA2', 'score': 4.21}, {'connected_gene': 'LOC100420774', 'score': 0.44}, {'connected_gene': 'LOC105374806', 'score': 0.39}]
chr2 GH02I073921 73921314 73921463 0.96 [{'connected_gene': 'ACTG2', 'score': 11.46}, {'connected_gene': 'STAMBP', 'score': 11.32}, {'connected_gene': 'BOLA3', 'score': 10.23}, {'connected_gene': 'BOLA3-AS1', 'score': 10.23}, {'connected_gene': 'GC02M073905', 'score': 0.44}, {'connected_gene': 'DGUOK', 'score': 0.44}]
chr2 GH02I073892 73892168 73895330 1.69 [{'connected_gene': 'ACTG2', 'score': 562.36}, {'connected_gene': 'STAMBP', 'score': 15.71}, {'connected_gene': 'DGUOK', 'score': 11.42}, {'connected_gene': 'TET3', 'score': 10.43}, {'connected_gene': 'BOLA3', 'score': 10.22}, {'connected_gene': 'BOLA3-AS1', 'score': 10.22}, {'connected_gene': 'TPRKB', 'score': 9.75}, {'connected_gene': 'HTRA2', 'score': 5.62}, {'connected_gene': 'MOB1A', 'score': 4.9}, {'connected_gene': 'ALMS1', 'score': 4.55}, {'connected_gene': 'GC02M073905', 'score': 0.37}]
chr2 GH02I073900 73900513 73900572 0.7 [{'connected_gene': 'ACTG2', 'score': 550.44}, {'connected_gene': 'GC02M073905', 'score': 0.39}]
chr2 GH02I073903 73903937 73904312 0.24 [{'connected_gene': 'ACTG2', 'score': 10.61}, {'connected_gene': 'GC02M073905', 'score': 0.44}]
chr2 GH02I074569 74569535 74570537 0.43 [{'connected_gene': 'HTRA2', 'score': 22.46}, {'connected_gene': 'MOB1A', 'score': 15.02}, {'connected_gene': 'DUSP11', 'score': 14.86}, {'connected_gene': 'DOK1', 'score': 11.89}, {'connected_gene': 'AUP1', 'score': 11.54}, {'connected_gene': 'TTC31', 'score': 11.51}, {'connected_gene': 'ENSG00000273245', 'score': 11.42}, {'connected_gene': 'TLX2', 'score': 10.93}, {'connected_gene': 'PCGF1', 'score': 10.92}, {'connected_gene': 'ACTG2', 'score': 10.91}, {'connected_gene': 'MRPL53', 'score': 10.49}, {'connected_gene': 'MOGS', 'score': 10.48}, {'connected_gene': 'LBX2', 'score': 10.47}, {'connected_gene': 'WBP1', 'score': 10.47}, {'connected_gene': 'DQX1', 'score': 10.43}, {'connected_gene': 'ENSG00000270571', 'score': 10.39}, {'connected_gene': 'RTKN', 'score': 10.0}, {'connected_gene': 'M1AP', 'score': 9.25}, {'connected_gene': 'SEMA4F', 'score': 9.24}, {'connected_gene': 'LOXL3', 'score': 0.39}, {'connected_gene': 'GC02M074608', 'score': 0.28}, {'connected_gene': 'GC02M074606', 'score': 0.28}]
chr2 GH02I073886 73886969 73888320 0.63 [{'connected_gene': 'HTRA2', 'score': 5.42}, {'connected_gene': 'STAMBP', 'score': 5.22}, {'connected_gene': 'ACTG2', 'score': 0.77}, {'connected_gene': 'LOC100420774', '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 GH02I074042 74042697 74044064 1.21 [{'connected_gene': 'TET3', 'score': 11.83}, {'connected_gene': 'ACTG2', 'score': 10.38}, {'connected_gene': 'BOLA3', 'score': 10.06}, {'connected_gene': 'BOLA3-AS1', 'score': 10.06}, {'connected_gene': 'LOC107985899', 'score': 9.96}, {'connected_gene': 'MTHFD2', 'score': 9.9}, {'connected_gene': 'DGUOK-AS1', 'score': 7.43}, {'connected_gene': 'ENSG00000279181', 'score': 0.26}, {'connected_gene': 'FNBP1P1', 'score': 0.18}]
chr2 GH02I074044 74044228 74046483 0.63 [{'connected_gene': 'TET3', 'score': 11.83}, {'connected_gene': 'ACTG2', 'score': 10.38}, {'connected_gene': 'BOLA3', 'score': 10.06}, {'connected_gene': 'BOLA3-AS1', 'score': 10.06}, {'connected_gene': 'LOC107985899', 'score': 9.96}, {'connected_gene': 'MTHFD2', 'score': 9.91}, {'connected_gene': 'DGUOK-AS1', 'score': 9.07}, {'connected_gene': 'FNBP1P1', 'score': 4.49}, {'connected_gene': 'ENSG00000279181', 'score': 0.25}]
chr2 GH02I074048 74048155 74049960 0.91 [{'connected_gene': 'TET3', 'score': 11.83}, {'connected_gene': 'ACTG2', 'score': 10.38}, {'connected_gene': 'BOLA3', 'score': 10.22}, {'connected_gene': 'BOLA3-AS1', 'score': 10.22}, {'connected_gene': 'LOC107985899', 'score': 9.97}, {'connected_gene': 'MTHFD2', 'score': 9.91}, {'connected_gene': 'ENSG00000279181', 'score': 0.23}, {'connected_gene': 'FNBP1P1', 'score': 0.19}]
chr2 GH02I073934 73934996 73936946 0.2 [{'connected_gene': 'TET3', 'score': 11.47}, {'connected_gene': 'ACTG2', 'score': 10.66}, {'connected_gene': 'BOLA3', 'score': 10.05}, {'connected_gene': 'BOLA3-AS1', 'score': 10.05}, {'connected_gene': 'STAMBP', 'score': 10.04}, {'connected_gene': 'DGUOK-AS1', 'score': 4.34}, {'connected_gene': 'DGUOK', 'score': 0.44}, {'connected_gene': 'GC02M073969', 'score': 0.29}]
chr2 GH02I074040 74040601 74041572 0.66 [{'connected_gene': 'TET3', 'score': 12.72}, {'connected_gene': 'BOLA3', 'score': 10.74}, {'connected_gene': 'BOLA3-AS1', 'score': 10.74}, {'connected_gene': 'ACTG2', 'score': 10.7}, {'connected_gene': 'LOC107985899', 'score': 10.28}, {'connected_gene': 'MTHFD2', 'score': 9.9}, {'connected_gene': 'DGUOK-AS1', 'score': 4.82}, {'connected_gene': 'ENSG00000279181', 'score': 0.26}, {'connected_gene': 'FNBP1P1', 'score': 0.18}]
chr2 GH02I074039 74039801 74040000 0.72 [{'connected_gene': 'TET3', 'score': 12.72}, {'connected_gene': 'BOLA3', 'score': 10.74}, {'connected_gene': 'BOLA3-AS1', 'score': 10.74}, {'connected_gene': 'ACTG2', 'score': 10.7}, {'connected_gene': 'LOC107985899', 'score': 10.28}, {'connected_gene': 'ENSG00000279181', 'score': 0.26}, {'connected_gene': 'FNBP1P1', 'score': 0.18}]
chr2 GH02I074054 74054094 74054243 0.72 [{'connected_gene': 'TET3', 'score': 11.77}, {'connected_gene': 'BOLA3', 'score': 10.62}, {'connected_gene': 'BOLA3-AS1', 'score': 10.62}, {'connected_gene': 'ACTG2', 'score': 9.72}, {'connected_gene': 'ENSG00000279181', 'score': 0.22}, {'connected_gene': 'FNBP1P1', 'score': 0.2}]
chr2 GH02I074053 74053266 74054027 0.77 [{'connected_gene': 'TET3', 'score': 11.77}, {'connected_gene': 'BOLA3', 'score': 10.62}, {'connected_gene': 'BOLA3-AS1', 'score': 10.62}, {'connected_gene': 'ACTG2', 'score': 9.72}, {'connected_gene': 'ENSG00000279181', 'score': 0.22}, {'connected_gene': 'FNBP1P1', 'score': 0.2}]
chr2 GH02I074055 74055644 74057465 0.31 [{'connected_gene': 'TET3', 'score': 11.92}, {'connected_gene': 'BOLA3', 'score': 10.62}, {'connected_gene': 'BOLA3-AS1', 'score': 10.62}, {'connected_gene': 'DGUOK', 'score': 10.26}, {'connected_gene': 'ACTG2', 'score': 10.01}, {'connected_gene': 'RTKN', 'score': 9.02}, {'connected_gene': 'DGUOK-AS1', 'score': 7.24}, {'connected_gene': 'ENSG00000279181', 'score': 0.22}, {'connected_gene': 'FNBP1P1', 'score': 0.21}]
chr2 GH02I074091 74091548 74092893 0.2 [{'connected_gene': 'TET3', 'score': 11.61}, {'connected_gene': 'BOLA3', 'score': 11.26}, {'connected_gene': 'BOLA3-AS1', 'score': 11.26}, {'connected_gene': 'STAMBP', 'score': 11.07}, {'connected_gene': 'LOC107985899', 'score': 10.93}, {'connected_gene': 'ACTG2', 'score': 10.21}, {'connected_gene': 'DGUOK-AS1', 'score': 6.53}, {'connected_gene': 'FNBP1P1', 'score': 0.31}, {'connected_gene': 'ENSG00000279181', 'score': 0.16}]
chr2 GH02I074035 74035801 74039239 1.33 [{'connected_gene': 'TET3', 'score': 12.73}, {'connected_gene': 'STAMBP', 'score': 11.06}, {'connected_gene': 'BOLA3', 'score': 10.73}, {'connected_gene': 'BOLA3-AS1', 'score': 10.73}, {'connected_gene': 'ACTG2', 'score': 10.7}, {'connected_gene': 'LOC107985899', 'score': 10.28}, {'connected_gene': 'DGUOK-AS1', 'score': 5.34}, {'connected_gene': 'ENSG00000279181', 'score': 0.28}, {'connected_gene': 'FNBP1P1', 'score': 0.18}]
chr2 GH02I073925 73925266 73928800 2.51 [{'connected_gene': 'DGUOK', 'score': 550.77}, {'connected_gene': 'ACTG2', 'score': 11.44}, {'connected_gene': 'STAMBP', 'score': 11.32}, {'connected_gene': 'BOLA3', 'score': 10.23}, {'connected_gene': 'BOLA3-AS1', 'score': 10.23}, {'connected_gene': 'DGUOK-AS1', 'score': 4.95}, {'connected_gene': 'GC02M073969', 'score': 0.26}]
chr2 GH02I073926 73925074 73925223 0.31 [{'connected_gene': 'DGUOK', 'score': 550.77}, {'connected_gene': 'ACTG2', 'score': 11.44}, {'connected_gene': 'STAMBP', 'score': 11.32}, {'connected_gene': 'BOLA3', 'score': 10.23}, {'connected_gene': 'BOLA3-AS1', 'score': 10.23}, {'connected_gene': 'GC02M073905', 'score': 0.39}]
chr2 GH02I073962 73962562 73964942 0.78 [{'connected_gene': 'DGUOK', 'score': 16.33}, {'connected_gene': 'BOLA3', 'score': 10.47}, {'connected_gene': 'BOLA3-AS1', 'score': 10.47}, {'connected_gene': 'ACTG2', 'score': 10.11}, {'connected_gene': 'GC02M073969', 'score': 0.77}, {'connected_gene': 'DGUOK-AS1', 'score': 0.37}]
chr2 GH02I073895 73895934 73897655 1.05 [{'connected_gene': 'DGUOK', 'score': 11.42}, {'connected_gene': 'TET3', 'score': 10.43}, {'connected_gene': 'STAMBP', 'score': 10.32}, {'connected_gene': 'BOLA3', 'score': 10.22}, {'connected_gene': 'BOLA3-AS1', 'score': 10.22}, {'connected_gene': 'TPRKB', 'score': 9.75}, {'connected_gene': 'ALMS1-IT1', 'score': 4.64}, {'connected_gene': 'SMYD5', 'score': 4.28}, {'connected_gene': 'ACTG2', 'score': 0.77}, {'connected_gene': 'GC02M073905', 'score': 0.37}]
chr2 GH02I073911 73911107 73918479 0.56 [{'connected_gene': 'LOC107985899', 'score': 5.01}, {'connected_gene': 'ALMS1P1', 'score': 3.97}, {'connected_gene': 'GC02M073905', 'score': 0.77}, {'connected_gene': 'DGUOK', 'score': 0.39}, {'connected_gene': 'ACTG2', 'score': 0.34}]
chr2 GH02I073993 73993801 73994000 0.63 [{'connected_gene': 'STAMBP', 'score': 10.61}, {'connected_gene': 'ACTG2', 'score': 10.31}, {'connected_gene': 'BOLA3', 'score': 10.21}, {'connected_gene': 'BOLA3-AS1', 'score': 10.21}, {'connected_gene': 'LOC107985899', 'score': 10.06}, {'connected_gene': 'ENSG00000279181', 'score': 0.77}, {'connected_gene': 'PIR31933', 'score': 0.44}, {'connected_gene': 'TET3', 'score': 0.39}]
chr2 GH02I073991 73991166 73992497 0.43 [{'connected_gene': 'STAMBP', 'score': 10.61}, {'connected_gene': 'ACTG2', 'score': 10.32}, {'connected_gene': 'BOLA3', 'score': 10.21}, {'connected_gene': 'BOLA3-AS1', 'score': 10.21}, {'connected_gene': 'LOC107985899', 'score': 10.06}, {'connected_gene': 'PIR31933', 'score': 0.77}, {'connected_gene': 'ENSG00000279181', 'score': 0.44}, {'connected_gene': 'TET3', 'score': 0.44}]
chr2 GH02I073877 73877201 73878000 0.84 [{'connected_gene': 'LOC100420774', 'score': 550.77}, {'connected_gene': 'STAMBP', 'score': 16.72}, {'connected_gene': 'DGUOK', 'score': 11.25}, {'connected_gene': 'TET3', 'score': 10.72}, {'connected_gene': 'BOLA3', 'score': 9.87}, {'connected_gene': 'BOLA3-AS1', 'score': 9.87}, {'connected_gene': 'ACTG2', 'score': 0.39}]

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