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
ENST00000332272 [[75510948, 75513742], [75515714, 75515789], [75528837, 75528926]] [[75512538, 75513726]]
ENST00000390664 [[75512325, 75513742], [75515714, 75515789], [75524511, 75524667], [75528837, 75529282]] [[75512538, 75513726]]
NM_021615 [[75507021, 75513742], [75515714, 75515789], [75528837, 75528926]] [[75512538, 75513726]]
Promoter
Chrom Start End Description
chr16 75529273 75529293 CAGE_peak_2_at_CHST6_5end
chr16 75529294 75529376 CAGE_peak_1_at_CHST6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I075241 75241682 75259230 2.56 [{'connected_gene': 'BCAR1', 'score': 564.23}, {'connected_gene': 'ENSG00000280152', 'score': 550.77}, {'connected_gene': 'ENSG00000261079', 'score': 15.85}, {'connected_gene': 'NPIPB15', 'score': 13.07}, {'connected_gene': 'ENSG00000259972', 'score': 12.21}, {'connected_gene': 'ADAT1', 'score': 12.02}, {'connected_gene': 'WDR59', 'score': 10.27}, {'connected_gene': 'ENSG00000260884', 'score': 10.13}, {'connected_gene': 'ENSG00000261783', 'score': 8.3}, {'connected_gene': 'FA2H', 'score': 1.96}, {'connected_gene': 'CHST6', 'score': 1.48}, {'connected_gene': 'LOC105371344', 'score': 0.44}]
chr16 GH16I075495 75495092 75495782 1.16 [{'connected_gene': 'CHST6', 'score': 550.77}, {'connected_gene': 'ADAT1', 'score': 5.04}, {'connected_gene': 'ENSG00000273971', 'score': 0.77}, {'connected_gene': 'ENSG00000203472', 'score': 0.37}]
chr16 GH16I075492 75492083 75492172 0.7 [{'connected_gene': 'CHST6', 'score': 0.77}, {'connected_gene': 'ENSG00000203472', 'score': 0.37}]
chr16 GH16I075494 75494883 75495072 0.51 [{'connected_gene': 'CHST6', 'score': 550.77}, {'connected_gene': 'ENSG00000203472', 'score': 0.37}]
chr16 GH16I075534 75534775 75536631 0.4 [{'connected_gene': 'CHST5', 'score': 558.36}, {'connected_gene': 'ADAT1', 'score': 35.72}, {'connected_gene': 'CHST6', 'score': 12.05}, {'connected_gene': 'GABARAPL2', 'score': 11.98}, {'connected_gene': 'PIR47522', 'score': 0.77}, {'connected_gene': 'ENSG00000260092', 'score': 0.44}]
chr16 GH16I075516 75516013 75518012 1.76 [{'connected_gene': 'LOC100420067', 'score': 550.77}, {'connected_gene': 'ADAT1', 'score': 52.65}, {'connected_gene': 'TMEM231', 'score': 13.73}, {'connected_gene': 'RFWD3', 'score': 13.38}, {'connected_gene': 'CHST6', 'score': 12.23}, {'connected_gene': 'GABARAPL2', 'score': 11.19}, {'connected_gene': 'KARS', 'score': 9.92}, {'connected_gene': 'CHST5', 'score': 0.37}]
chr16 GH16I075482 75482833 75487449 1.08 [{'connected_gene': 'ENSG00000261783', 'score': 27.1}, {'connected_gene': 'BCAR1', 'score': 14.61}, {'connected_gene': 'RFWD3', 'score': 12.54}, {'connected_gene': 'CHST5', 'score': 11.77}, {'connected_gene': 'TMEM231', 'score': 11.73}, {'connected_gene': 'ADAT1', 'score': 10.21}, {'connected_gene': 'TMEM170A', 'score': 6.3}, {'connected_gene': 'ENSG00000203472', 'score': 0.44}, {'connected_gene': 'CHST6', 'score': 0.39}]
chr16 GH16I075471 75471363 75473237 1.07 [{'connected_gene': 'ENSG00000261783', 'score': 30.67}, {'connected_gene': 'WDR59', 'score': 12.93}, {'connected_gene': 'CHST6', 'score': 12.39}, {'connected_gene': 'CHST5', 'score': 12.05}, {'connected_gene': 'TMEM231', 'score': 12.01}, {'connected_gene': 'ENSG00000252122', 'score': 10.97}, {'connected_gene': 'GABARAPL2', 'score': 10.8}, {'connected_gene': 'CFDP1', 'score': 10.21}, {'connected_gene': 'ENSG00000203472', 'score': 0.77}, {'connected_gene': 'TMEM170A', 'score': 0.44}]
chr16 GH16I075420 75420543 75421887 1.24 [{'connected_gene': 'ENSG00000261783', 'score': 22.37}, {'connected_gene': 'CTRB2', 'score': 11.1}, {'connected_gene': 'CHST6', 'score': 10.93}, {'connected_gene': 'RNU6-758P', 'score': 10.64}, {'connected_gene': 'CFDP1', 'score': 0.39}, {'connected_gene': 'GC16M075409', 'score': 0.39}, {'connected_gene': 'ENSG00000252122', 'score': 0.39}, {'connected_gene': 'ENSG00000261717', 'score': 0.26}]
chr16 GH16I075423 75423391 75425307 0.74 [{'connected_gene': 'ENSG00000261783', 'score': 28.64}, {'connected_gene': 'CHST6', 'score': 10.93}, {'connected_gene': 'CFDP1', 'score': 10.75}, {'connected_gene': 'RNU6-758P', 'score': 10.64}, {'connected_gene': 'GC16M075409', 'score': 0.39}, {'connected_gene': 'ENSG00000252122', 'score': 0.39}, {'connected_gene': 'ENSG00000261717', 'score': 0.26}]
chr16 GH16I075537 75537537 75538058 0.4 [{'connected_gene': 'PIR47522', 'score': 550.77}, {'connected_gene': 'ADAT1', 'score': 33.41}, {'connected_gene': 'CHST6', 'score': 12.05}, {'connected_gene': 'GABARAPL2', 'score': 12.0}, {'connected_gene': 'TMEM231', 'score': 4.76}, {'connected_gene': 'CHST5', 'score': 0.77}, {'connected_gene': 'ENSG00000260092', 'score': 0.44}]
chr16 GH16I075540 75540460 75542227 0.51 [{'connected_gene': 'PIR47522', 'score': 550.77}, {'connected_gene': 'ADAT1', 'score': 40.29}, {'connected_gene': 'CHST6', 'score': 12.03}, {'connected_gene': 'GABARAPL2', 'score': 12.0}, {'connected_gene': 'CHST5', 'score': 5.76}, {'connected_gene': 'TMEM231', 'score': 4.79}, {'connected_gene': 'ENSG00000260092', 'score': 0.77}, {'connected_gene': 'ENSG00000259992', 'score': 0.2}]
chr16 GH16I075538 75538801 75539400 0.4 [{'connected_gene': 'PIR47522', 'score': 550.77}, {'connected_gene': 'ADAT1', 'score': 39.65}, {'connected_gene': 'CHST6', 'score': 12.05}, {'connected_gene': 'GABARAPL2', 'score': 12.0}, {'connected_gene': 'CHST5', 'score': 6.76}, {'connected_gene': 'ENSG00000260092', 'score': 0.44}, {'connected_gene': 'TMEM231', 'score': 0.37}]
chr16 GH16I075400 75400957 75403400 0.79 [{'connected_gene': 'ENSG00000261783', 'score': 33.75}, {'connected_gene': 'CFDP1', 'score': 10.97}, {'connected_gene': 'CHST6', 'score': 10.75}, {'connected_gene': 'GC16M075409', 'score': 0.44}, {'connected_gene': 'ENSG00000252122', 'score': 0.44}]