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
ENST00000304916 [[127564686, 127569730], [127570278, 127570638]] [[127568701, 127569634]]
ENST00000517458 [[127565059, 127565748], [127568509, 127568664]] None
NM_174911 [[127564682, 127569730], [127570278, 127570711]] [[127568701, 127569634]]
Promoter
Chrom Start End Description
chr8 127567083 127567087 CAGE_peak_6_at_FAM84B_5end
chr8 127569936 127570038 CAGE_peak_3_at_FAM84B_5end
chr8 127570603 127570648 CAGE_peak_1_at_FAM84B_5end
chr8 127570656 127570667 CAGE_peak_5_at_FAM84B_5end
chr8 127570676 127570690 CAGE_peak_4_at_FAM84B_5end
chr8 127570706 127570729 CAGE_peak_2_at_FAM84B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I126562 126562112 126563379 0.72 [{'connected_gene': 'SRRM1P1', 'score': 10.95}, {'connected_gene': 'FAM84B', 'score': 5.17}, {'connected_gene': 'PIR61718', 'score': 0.44}, {'connected_gene': 'LOC105375751', 'score': 0.44}]
chr8 GH08I126824 126824076 126829766 1.46 [{'connected_gene': 'FAM84B', 'score': 17.15}, {'connected_gene': 'MYC', 'score': 9.59}, {'connected_gene': 'CASC11', 'score': 9.59}, {'connected_gene': 'GC08P126836', 'score': 0.44}, {'connected_gene': 'LOC105375753', 'score': 0.34}, {'connected_gene': 'RNU11-4P', 'score': 0.1}]
chr8 GH08I126831 126831506 126836048 1.17 [{'connected_gene': 'FAM84B', 'score': 1.28}, {'connected_gene': 'GC08P126836', 'score': 0.77}, {'connected_gene': 'LOC105375753', 'score': 0.39}, {'connected_gene': 'RNU11-4P', 'score': 0.1}]
chr8 GH08I126553 126553352 126559493 2.18 [{'connected_gene': 'FAM84B', 'score': 557.2}, {'connected_gene': 'ENSG00000254010', 'score': 550.77}, {'connected_gene': 'LOC105375751', 'score': 550.77}, {'connected_gene': 'LOC105375750', 'score': 0.23}]
chr8 GH08I126432 126432991 126436622 1.25 [{'connected_gene': 'FAM84B', 'score': 56.01}, {'connected_gene': 'LOC105375751', 'score': 10.71}, {'connected_gene': 'ENSG00000253427', 'score': 0.28}, {'connected_gene': 'LOC101927657', 'score': 0.14}]
chr8 GH08I126648 126648830 126649239 0.22 [{'connected_gene': 'FAM84B', 'score': 42.53}, {'connected_gene': 'GC08P126672', 'score': 0.34}, {'connected_gene': 'ENSG00000253543', 'score': 0.2}, {'connected_gene': 'LOC105375751', 'score': 0.16}]
chr8 GH08I126530 126530526 126535376 1.02 [{'connected_gene': 'FAM84B', 'score': 5.17}, {'connected_gene': 'ENSG00000254010', 'score': 0.34}, {'connected_gene': 'LOC105375750', 'score': 0.31}]
chr8 GH08I126545 126545955 126548634 1 [{'connected_gene': 'FAM84B', 'score': 5.91}, {'connected_gene': 'ENSG00000254010', 'score': 0.44}, {'connected_gene': 'LOC105375750', 'score': 0.26}]
chr8 GH08I126522 126522604 126523485 0.4 [{'connected_gene': 'FAM84B', 'score': 6.37}, {'connected_gene': 'LOC105375750', 'score': 0.37}, {'connected_gene': 'ENSG00000254010', 'score': 0.29}]
chr8 GH08I126476 126476862 126476942 0.22 [{'connected_gene': 'FAM84B', 'score': 2.02}, {'connected_gene': 'ENSG00000253427', 'score': 0.77}, {'connected_gene': 'LOC105375749', 'score': 0.34}]
chr8 GH08I126496 126496320 126502352 0.82 [{'connected_gene': 'FAM84B', 'score': 10.14}, {'connected_gene': 'LOC105375749', 'score': 0.77}, {'connected_gene': 'GC08P126505', 'score': 0.44}]
chr8 GH08I127058 127058083 127058384 0.24 [{'connected_gene': 'FAM84B', 'score': 13.12}, {'connected_gene': 'PRNCR1', 'score': 0.34}, {'connected_gene': 'PIR56595', 'score': 0.17}]
chr8 GH08I126904 126904621 126904933 0.33 [{'connected_gene': 'FAM84B', 'score': 2.76}, {'connected_gene': 'GC08M126872', 'score': 0.34}, {'connected_gene': 'GC08M126909', 'score': 0.26}, {'connected_gene': 'PCAT1', 'score': 0.22}]
chr8 GH08I126916 126916525 126916888 0.38 [{'connected_gene': 'FAM84B', 'score': 14.52}, {'connected_gene': 'GC08M126909', 'score': 0.29}, {'connected_gene': 'GC08M126872', 'score': 0.28}, {'connected_gene': 'PCAT1', 'score': 0.2}]
chr8 GH08I126505 126505045 126507721 0.52 [{'connected_gene': 'RNU6-869P', 'score': 550.77}, {'connected_gene': 'LOC105375750', 'score': 550.77}, {'connected_gene': 'GC08P126505', 'score': 550.77}, {'connected_gene': 'FAM84B', 'score': 16.3}, {'connected_gene': 'LOC105375751', 'score': 11.64}, {'connected_gene': 'ENSG00000254010', 'score': 0.23}]
chr8 GH08I126504 126504296 126504445 0.31 [{'connected_gene': 'RNU6-869P', 'score': 550.77}, {'connected_gene': 'LOC105375750', 'score': 550.77}, {'connected_gene': 'GC08P126505', 'score': 550.77}, {'connected_gene': 'FAM84B', 'score': 9.43}, {'connected_gene': 'LOC105375749', 'score': 0.44}]
chr8 GH08I126695 126695676 126695865 0.31 [{'connected_gene': 'LOC105375751', 'score': 10.49}, {'connected_gene': 'FAM84B', 'score': 10.49}, {'connected_gene': 'RNU11-4P', 'score': 0.34}, {'connected_gene': 'GC08P126836', 'score': 0.11}]
chr8 GH08I126510 126510396 126510625 0.77 [{'connected_gene': 'LOC105375751', 'score': 11.66}, {'connected_gene': 'FAM84B', 'score': 11.66}, {'connected_gene': 'LOC105375750', 'score': 0.77}, {'connected_gene': 'ENSG00000254010', 'score': 0.25}]
chr8 GH08I126383 126383776 126383965 0.57 [{'connected_gene': 'LOC105375751', 'score': 10.45}, {'connected_gene': 'FAM84B', 'score': 10.45}, {'connected_gene': 'LOC101927657', 'score': 0.22}, {'connected_gene': 'ENSG00000253427', 'score': 0.16}]
chr8 GH08I126395 126395036 126395185 0.52 [{'connected_gene': 'LOC105375751', 'score': 10.19}, {'connected_gene': 'FAM84B', 'score': 10.19}, {'connected_gene': 'LOC101927657', 'score': 0.2}, {'connected_gene': 'ENSG00000253427', 'score': 0.18}]
chr8 GH08I126578 126578925 126581018 1.03 [{'connected_gene': 'LOC105375751', 'score': 11.96}, {'connected_gene': 'FAM84B', 'score': 11.96}, {'connected_gene': 'ENSG00000253543', 'score': 0.77}, {'connected_gene': 'PIR61718', 'score': 0.39}]
chr8 GH08I126582 126582547 126583962 0.69 [{'connected_gene': 'ENSG00000253543', 'score': 550.77}, {'connected_gene': 'FAM84B', 'score': 11.96}, {'connected_gene': 'LOC105375751', 'score': 11.93}, {'connected_gene': 'GC08P126672', 'score': 0.17}]
chr8 GH08I126563 126563566 126565635 0.66 [{'connected_gene': 'PIR61718', 'score': 0.77}, {'connected_gene': 'LOC105375751', 'score': 0.44}, {'connected_gene': 'FAM84B', 'score': 0.44}]