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
ENST00000583413 [[27909082, 27909162], [27909715, 27909821], [27909942, 27910055], [27910500, 27910634], [27920959, 27921072]] [[27909082, 27909162], [27909715, 27909821], [27909942, 27910055], [27910500, 27910634], [27920959, 27921047]]
ENST00000225394 [[27900486, 27901932], [27902096, 27902160], [27902305, 27902488], [27902647, 27902721], [27902829, 27902916], [27903095, 27903149], [27903237, 27903468], [27903539, 27903692], [27903880, 27904014], [27904153, 27904265], [27904662, 27904760], [27905316, 27905389], [27905748, 27905797], [27908355, 27908398], [27908759, 27908854], [27908944, 27909162], [27909715, 27909821], [27909942, 27910055], [27910500, 27910634], [27916344, 27916645]] [[27901719, 27901932], [27902096, 27902160], [27902305, 27902488], [27902647, 27902721], [27902829, 27902916], [27903095, 27903149], [27903237, 27903468], [27903539, 27903692], [27903880, 27904014], [27904153, 27904265], [27904662, 27904760], [27905316, 27905389], [27905748, 27905797], [27908355, 27908398], [27908759, 27908854], [27908944, 27909162], [27909715, 27909821], [27909942, 27910055], [27910500, 27910634], [27916344, 27916396]]
ENST00000473217 [[27900492, 27901932], [27902096, 27902160], [27902305, 27902721], [27902829, 27902916], [27903095, 27903149], [27903237, 27903468], [27903539, 27903692], [27903880, 27904014], [27904153, 27904265], [27904662, 27904760], [27905316, 27905389], [27905748, 27906348]] None
ENST00000394869 [[27900492, 27901932], [27902096, 27902160], [27902305, 27902488], [27902647, 27902721], [27902829, 27902916], [27903095, 27903149], [27903237, 27903468], [27903539, 27903692], [27903880, 27904014], [27904153, 27904265], [27904662, 27904760], [27905316, 27905389], [27905748, 27905797], [27905979, 27906006], [27908355, 27908398], [27908759, 27908854], [27908944, 27909162], [27909715, 27909821], [27909942, 27910055], [27910500, 27910634], [27916344, 27916567]] [[27901719, 27901932], [27902096, 27902160], [27902305, 27902488], [27902647, 27902721], [27902829, 27902916], [27903095, 27903149], [27903237, 27903468], [27903539, 27903692], [27903880, 27904014], [27904153, 27904265], [27904662, 27904760], [27905316, 27905389], [27905748, 27905797], [27905979, 27906006], [27908355, 27908398], [27908759, 27908854], [27908944, 27909162], [27909715, 27909821], [27909942, 27910055], [27910500, 27910634], [27916344, 27916396]]
ENST00000581348 [[27901189, 27901932], [27902096, 27902160], [27902305, 27902488], [27902647, 27902721], [27902829, 27902847], [27903095, 27903149], [27903237, 27903468], [27903539, 27903692], [27903880, 27904014], [27904153, 27904265], [27904662, 27904760], [27905316, 27905389], [27905748, 27905797], [27905979, 27906006], [27908355, 27908398], [27908759, 27908854], [27908944, 27909162], [27909715, 27909821], [27909942, 27910055], [27910500, 27910634], [27916344, 27916449]] [[27901719, 27901932], [27902096, 27902160], [27902305, 27902488], [27902647, 27902721], [27902829, 27902847], [27903095, 27903149], [27903237, 27903468], [27903539, 27903692], [27903880, 27904014], [27904153, 27904265], [27904662, 27904760], [27905316, 27905389], [27905748, 27905797], [27905979, 27906006], [27908355, 27908398], [27908759, 27908854], [27908944, 27909162], [27909715, 27909821], [27909942, 27910055], [27910500, 27910634], [27916344, 27916396]]
ENST00000579937 [[27901468, 27901979], [27902096, 27902160], [27902305, 27902488], [27902647, 27902721], [27902829, 27902916], [27903095, 27903149], [27903237, 27903468], [27903539, 27903692], [27903880, 27904014], [27904153, 27904265], [27904662, 27904760], [27905316, 27905389], [27905748, 27905797], [27908355, 27908398], [27908759, 27908854], [27908944, 27909162], [27909715, 27909821], [27909942, 27910055], [27910500, 27910634], [27916344, 27916610]] [[27901967, 27901979], [27902096, 27902160], [27902305, 27902488], [27902647, 27902721], [27902829, 27902916], [27903095, 27903149], [27903237, 27903468], [27903539, 27903692], [27903880, 27904014], [27904153, 27904265], [27904662, 27904760], [27905316, 27905389], [27905748, 27905797], [27908355, 27908398], [27908759, 27908854], [27908944, 27909162], [27909715, 27909821], [27909942, 27910055], [27910500, 27910634], [27916344, 27916396]]
ENST00000578670 [[27901530, 27901932], [27902096, 27902160], [27902305, 27902488], [27903095, 27903149], [27903237, 27903452]] [[27902308, 27902488], [27903095, 27903149], [27903237, 27903452]]
ENST00000578266 [[27902003, 27902160], [27902305, 27902488], [27902647, 27902721], [27902829, 27902916], [27903095, 27903149]] [[27902024, 27902160], [27902305, 27902488], [27902647, 27902721], [27902829, 27902916], [27903095, 27903149]]
ENST00000491377 [[27902832, 27902916], [27903095, 27903692], [27903880, 27903989]] None
ENST00000585148 [[27903397, 27903468], [27903539, 27903692], [27903880, 27904014], [27904201, 27904265], [27904662, 27904760], [27905316, 27905389], [27905748, 27905797], [27908355, 27908399]] [[27903397, 27903468], [27903539, 27903692], [27903880, 27904014], [27904201, 27904265], [27904662, 27904760], [27905316, 27905389], [27905748, 27905797], [27908355, 27908399]]
ENST00000586574 [[27903905, 27904014], [27904153, 27904265], [27904662, 27904760], [27905316, 27905389], [27905748, 27905797], [27908355, 27908490]] None
ENST00000581925 [[27903905, 27904014], [27904153, 27904265], [27904662, 27904760], [27905316, 27905389], [27905748, 27905797], [27905979, 27906006], [27908355, 27908497]] None
ENST00000579536 [[27908064, 27908398], [27908759, 27908854], [27908944, 27909162], [27909715, 27909920]] None
ENST00000335356 [[27909100, 27909162], [27909715, 27909821], [27909942, 27910055], [27910500, 27910609], [27916344, 27916614]] [[27909100, 27909162], [27909715, 27909821], [27909942, 27910055], [27910500, 27910609], [27916344, 27916396]]
ENST00000577466 [[27909777, 27909821], [27909942, 27910055], [27910500, 27910890]] [[27909777, 27909821], [27909942, 27910055]]
NM_001085454 [[27900486, 27901932], [27902096, 27902160], [27902305, 27902488], [27902647, 27902721], [27902829, 27902916], [27903095, 27903149], [27903237, 27903468], [27903539, 27903692], [27903880, 27904014], [27904153, 27904265], [27904662, 27904760], [27905316, 27905389], [27905748, 27905797], [27905979, 27906006], [27908355, 27908398], [27908759, 27908854], [27908944, 27909162], [27909715, 27909821], [27909942, 27910055], [27910500, 27910634], [27916344, 27916610]] [[27901719, 27901932], [27902096, 27902160], [27902305, 27902488], [27902647, 27902721], [27902829, 27902916], [27903095, 27903149], [27903237, 27903468], [27903539, 27903692], [27903880, 27904014], [27904153, 27904265], [27904662, 27904760], [27905316, 27905389], [27905748, 27905797], [27905979, 27906006], [27908355, 27908398], [27908759, 27908854], [27908944, 27909162], [27909715, 27909821], [27909942, 27910055], [27910500, 27910634], [27916344, 27916396]]
NM_014030 [[27900486, 27901932], [27902096, 27902160], [27902305, 27902488], [27902647, 27902721], [27902829, 27902916], [27903095, 27903149], [27903237, 27903468], [27903539, 27903692], [27903880, 27904014], [27904153, 27904265], [27904662, 27904760], [27905316, 27905389], [27905748, 27905797], [27908355, 27908398], [27908759, 27908854], [27908944, 27909162], [27909715, 27909821], [27909942, 27910055], [27910500, 27910634], [27916344, 27916610]] [[27901719, 27901932], [27902096, 27902160], [27902305, 27902488], [27902647, 27902721], [27902829, 27902916], [27903095, 27903149], [27903237, 27903468], [27903539, 27903692], [27903880, 27904014], [27904153, 27904265], [27904662, 27904760], [27905316, 27905389], [27905748, 27905797], [27908355, 27908398], [27908759, 27908854], [27908944, 27909162], [27909715, 27909821], [27909942, 27910055], [27910500, 27910634], [27916344, 27916396]]
Promoter
Chrom Start End Description
chr17 27901500 27901511 CAGE_peak_25_at_GIT1_5end
chr17 27916499 27916547 CAGE_peak_4_at_GIT1_5end
chr17 27916555 27916570 CAGE_peak_5_at_GIT1_5end
chr17 27916589 27916610 CAGE_peak_2_at_GIT1_5end
chr17 27916621 27916680 CAGE_peak_1_at_GIT1_5end
chr17 27916681 27916692 CAGE_peak_3_at_GIT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I029612 29612817 29614432 1.55 [{'connected_gene': 'GOSR1', 'score': 16.26}, {'connected_gene': 'ENSG00000264577', 'score': 12.67}, {'connected_gene': 'SUPT6H', 'score': 12.18}, {'connected_gene': 'NUFIP2', 'score': 9.93}, {'connected_gene': 'SMURF2P1', 'score': 9.76}, {'connected_gene': 'ENSG00000264007', 'score': 0.44}, {'connected_gene': 'GIT1', 'score': 0.37}, {'connected_gene': 'ANKRD13B', 'score': 0.34}, {'connected_gene': 'ABHD15-AS1', 'score': 0.23}]
chr17 GH17I029577 29577230 29578672 0.63 [{'connected_gene': 'TP53I13', 'score': 28.57}, {'connected_gene': 'CORO6', 'score': 27.86}, {'connected_gene': 'RNU6-920P', 'score': 10.57}, {'connected_gene': 'GC17P029570', 'score': 0.44}, {'connected_gene': 'ANKRD13B', 'score': 0.39}, {'connected_gene': 'GIT1', 'score': 0.37}, {'connected_gene': 'ABHD15-AS1', 'score': 0.37}]
chr17 GH17I029579 29579943 29582503 1.16 [{'connected_gene': 'TP53I13', 'score': 41.64}, {'connected_gene': 'CORO6', 'score': 28.35}, {'connected_gene': 'RNU6-920P', 'score': 10.57}, {'connected_gene': 'ANKRD13B', 'score': 0.44}, {'connected_gene': 'GC17P029570', 'score': 0.39}, {'connected_gene': 'GIT1', 'score': 0.39}, {'connected_gene': 'ABHD15-AS1', 'score': 0.34}]
chr17 GH17I029571 29571451 29576019 1.34 [{'connected_gene': 'TP53I13', 'score': 44.41}, {'connected_gene': 'CORO6', 'score': 11.85}, {'connected_gene': 'RNU6-920P', 'score': 10.57}, {'connected_gene': 'ANKRD13B', 'score': 7.98}, {'connected_gene': 'GC17P029570', 'score': 0.77}, {'connected_gene': 'ABHD15-AS1', 'score': 0.39}, {'connected_gene': 'GIT1', 'score': 0.34}]
chr17 GH17I029376 29376220 29377436 1.11 [{'connected_gene': 'TP53I13', 'score': 5.99}, {'connected_gene': 'MYO18A', 'score': 4.72}, {'connected_gene': 'TAOK1', 'score': 3.2}, {'connected_gene': 'TIAF1', 'score': 2.36}, {'connected_gene': 'GIT1', 'score': 1.92}, {'connected_gene': 'GC17M029364', 'score': 0.39}, {'connected_gene': 'RNU4-34P', 'score': 0.39}, {'connected_gene': 'ENSG00000264808', 'score': 0.39}, {'connected_gene': 'ENSG00000266111', 'score': 0.34}]
chr17 GH17I029596 29596452 29596595 0.54 [{'connected_gene': 'CORO6', 'score': 12.71}, {'connected_gene': 'GIT1', 'score': 0.77}, {'connected_gene': 'ANKRD13B', 'score': 0.44}, {'connected_gene': 'ENSG00000264007', 'score': 0.31}, {'connected_gene': 'ABHD15-AS1', 'score': 0.28}]
chr17 GH17I029616 29616703 29618712 1.13 [{'connected_gene': 'CORO6', 'score': 48.47}, {'connected_gene': 'ENSG00000264007', 'score': 0.77}, {'connected_gene': 'GIT1', 'score': 0.34}, {'connected_gene': 'ABHD15-AS1', 'score': 0.22}]
chr17 GH17I029608 29608413 29610033 0.2 [{'connected_gene': 'CORO6', 'score': 52.69}, {'connected_gene': 'ENSG00000264007', 'score': 0.39}, {'connected_gene': 'ANKRD13B', 'score': 0.37}, {'connected_gene': 'GIT1', 'score': 0.37}, {'connected_gene': 'ABHD15-AS1', 'score': 0.25}]
chr17 GH17I029597 29597016 29598208 0.98 [{'connected_gene': 'CORO6', 'score': 39.24}, {'connected_gene': 'ANKRD13B', 'score': 5.33}, {'connected_gene': 'GIT1', 'score': 0.77}, {'connected_gene': 'ENSG00000264007', 'score': 0.34}, {'connected_gene': 'ABHD15-AS1', 'score': 0.28}]
chr17 GH17I029583 29583983 29586200 0.92 [{'connected_gene': 'CORO6', 'score': 17.52}, {'connected_gene': 'ANKRD13B', 'score': 10.83}, {'connected_gene': 'GIT1', 'score': 0.44}, {'connected_gene': 'GC17P029570', 'score': 0.39}, {'connected_gene': 'ABHD15-AS1', 'score': 0.34}]
chr17 GH17I028841 28841340 28843400 2.03 [{'connected_gene': 'FAM222B', 'score': 550.39}, {'connected_gene': 'RAB34', 'score': 14.71}, {'connected_gene': 'TRAF4', 'score': 11.57}, {'connected_gene': 'SARM1', 'score': 10.82}, {'connected_gene': 'RPL23A', 'score': 10.14}, {'connected_gene': 'TAOK1', 'score': 9.69}, {'connected_gene': 'GIT1', 'score': 3.76}, {'connected_gene': 'ENSG00000264138', 'score': 0.44}, {'connected_gene': 'ENSG00000238516', 'score': 0.44}]
chr17 GH17I029175 29175769 29181465 2.62 [{'connected_gene': 'MYO18A', 'score': 581.89}, {'connected_gene': 'TMEM199', 'score': 19.81}, {'connected_gene': 'IFT20', 'score': 10.15}, {'connected_gene': 'TIAF1', 'score': 6.49}, {'connected_gene': 'ENSG00000265474', 'score': 4.63}, {'connected_gene': 'TLCD1', 'score': 2.75}, {'connected_gene': 'TRAF4', 'score': 2.19}, {'connected_gene': 'GIT1', 'score': 1.27}, {'connected_gene': 'ENSG00000263709', 'score': 0.28}, {'connected_gene': 'GC17M029118', 'score': 0.13}]
chr17 GH17I029212 29212250 29213574 1.43 [{'connected_gene': 'MYO18A', 'score': 15.26}, {'connected_gene': 'CRYBA1', 'score': 12.43}, {'connected_gene': 'TIAF1', 'score': 6.93}, {'connected_gene': 'TAOK1', 'score': 3.05}, {'connected_gene': 'NEK8', 'score': 1.89}, {'connected_gene': 'GIT1', 'score': 1.72}, {'connected_gene': 'TWF1P1', 'score': 0.44}, {'connected_gene': 'GC17M029118', 'score': 0.16}]
chr17 GH17I029594 29594893 29595715 0.46 [{'connected_gene': 'GIT1', 'score': 550.77}, {'connected_gene': 'TP53I13', 'score': 17.61}, {'connected_gene': 'CORO6', 'score': 12.71}, {'connected_gene': 'ANKRD13B', 'score': 0.44}, {'connected_gene': 'ENSG00000264007', 'score': 0.31}, {'connected_gene': 'ABHD15-AS1', 'score': 0.29}]
chr17 GH17I029595 29595813 29596205 0.43 [{'connected_gene': 'GIT1', 'score': 550.77}, {'connected_gene': 'CORO6', 'score': 12.71}, {'connected_gene': 'ANKRD13B', 'score': 0.44}, {'connected_gene': 'ENSG00000264007', 'score': 0.31}, {'connected_gene': 'ABHD15-AS1', 'score': 0.28}]
chr17 GH17I029586 29586391 29594813 2.55 [{'connected_gene': 'ANKRD13B', 'score': 562.7}, {'connected_gene': 'GIT1', 'score': 552.08}, {'connected_gene': 'ENSG00000264647', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 46.36}, {'connected_gene': 'NUFIP2', 'score': 43.18}, {'connected_gene': 'ENSG00000264577', 'score': 37.76}, {'connected_gene': 'TP53I13', 'score': 35.72}, {'connected_gene': 'CORO6', 'score': 35.27}, {'connected_gene': 'PHF12', 'score': 34.38}, {'connected_gene': 'ENSG00000265908', 'score': 33.29}, {'connected_gene': 'GOSR1', 'score': 23.29}, {'connected_gene': 'ENSG00000265205', 'score': 21.21}, {'connected_gene': 'LOC101927018', 'score': 21.19}, {'connected_gene': 'SDF2', 'score': 12.42}, {'connected_gene': 'ENSG00000264290', 'score': 10.04}, {'connected_gene': 'EFCAB5', 'score': 2.68}, {'connected_gene': 'ABHD15-AS1', 'score': 0.29}]
chr17 GH17I029584 29583247 29583460 0.2 [{'connected_gene': 'ANKRD13B', 'score': 0.44}, {'connected_gene': 'GC17P029570', 'score': 0.39}, {'connected_gene': 'GIT1', 'score': 0.39}, {'connected_gene': 'ABHD15-AS1', 'score': 0.34}]
chr17 GH17I029603 29603149 29603814 0.38 [{'connected_gene': 'RNU6-920P', 'score': 11.0}, {'connected_gene': 'GIT1', 'score': 0.44}, {'connected_gene': 'ANKRD13B', 'score': 0.39}, {'connected_gene': 'ENSG00000264007', 'score': 0.37}, {'connected_gene': 'ABHD15-AS1', 'score': 0.26}]
chr17 GH17I029614 29614703 29614852 0.4 [{'connected_gene': 'ENSG00000264007', 'score': 0.44}, {'connected_gene': 'CORO6', 'score': 0.44}, {'connected_gene': 'GIT1', 'score': 0.34}, {'connected_gene': 'ANKRD13B', 'score': 0.31}, {'connected_gene': 'ABHD15-AS1', 'score': 0.23}]
chr17 GH17I029615 29615103 29616572 1.46 [{'connected_gene': 'ENSG00000264007', 'score': 0.44}, {'connected_gene': 'CORO6', 'score': 0.44}, {'connected_gene': 'GIT1', 'score': 0.34}, {'connected_gene': 'ABHD15-AS1', 'score': 0.22}]
chr17 GH17I028715 28715726 28730121 2.55 [{'connected_gene': 'ENSG00000264577', 'score': 602.17}, {'connected_gene': 'RPL23A', 'score': 570.15}, {'connected_gene': 'RAB34', 'score': 565.36}, {'connected_gene': 'NEK8', 'score': 562.95}, {'connected_gene': 'SNORD42A', 'score': 550.77}, {'connected_gene': 'GC17P028741', 'score': 550.77}, {'connected_gene': 'PIR32969', 'score': 550.77}, {'connected_gene': 'GC17P028753', 'score': 550.77}, {'connected_gene': 'SNORD4A', 'score': 550.77}, {'connected_gene': 'GC17P028748', 'score': 550.77}, {'connected_gene': 'SNORD4B', 'score': 550.77}, {'connected_gene': 'GC17P028746', 'score': 550.77}, {'connected_gene': 'TLCD1', 'score': 550.44}, {'connected_gene': 'SUPT6H', 'score': 56.1}, {'connected_gene': 'NUFIP2', 'score': 54.07}, {'connected_gene': 'PHF12', 'score': 43.6}, {'connected_gene': 'ENSG00000265908', 'score': 33.33}, {'connected_gene': 'TMEM199', 'score': 32.72}, {'connected_gene': 'SDF2', 'score': 24.92}, {'connected_gene': 'PROCA1', 'score': 22.42}, {'connected_gene': 'ENSG00000265205', 'score': 21.42}, {'connected_gene': 'LOC101927018', 'score': 21.24}, {'connected_gene': 'SARM1', 'score': 20.2}, {'connected_gene': 'ANKRD13B', 'score': 19.45}, {'connected_gene': 'PIGS', 'score': 12.49}, {'connected_gene': 'ENSG00000265474', 'score': 11.52}, {'connected_gene': 'ENSG00000264044', 'score': 10.72}, {'connected_gene': 'ENSG00000264290', 'score': 9.73}, {'connected_gene': 'GIT1', 'score': 3.74}, {'connected_gene': 'ENSG00000267729', 'score': 0.77}, {'connected_gene': 'GC17P028754', 'score': 0.77}, {'connected_gene': 'GC17P028744', 'score': 0.77}, {'connected_gene': 'PIR31809', 'score': 0.77}, {'connected_gene': 'SNORD42B', 'score': 0.77}, {'connected_gene': 'GC17P028751', 'score': 0.77}]

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