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
ENST00000263921 [[54875955, 54876312], [54880003, 54880063], [54880229, 54880286], [54915121, 54915277], [54915417, 54915472], [54930348, 54930857]] [[54876261, 54876312], [54880003, 54880063], [54880229, 54880286], [54915121, 54915277], [54915417, 54915472], [54930348, 54930467]]
ENST00000512964 [[54875991, 54876312], [54880003, 54880063], [54915121, 54915277], [54915417, 54915472], [54930348, 54930467]] [[54876261, 54876312], [54880003, 54880063], [54915121, 54915277], [54915417, 54915472], [54930348, 54930467]]
ENST00000510894 [[54876145, 54876312], [54880003, 54880063], [54880229, 54880286], [54915205, 54915277], [54915417, 54915472], [54930348, 54930465]] [[54876261, 54876312], [54880003, 54880063], [54880229, 54880286], [54915205, 54915277], [54915417, 54915472], [54930348, 54930465]]
ENST00000509678 [[54914997, 54915277], [54915417, 54915472], [54930348, 54930475]] None
NM_012110 [[54875955, 54876312], [54880003, 54880063], [54880229, 54880286], [54915121, 54915277], [54915417, 54915472], [54930348, 54930815]] [[54876261, 54876312], [54880003, 54880063], [54880229, 54880286], [54915121, 54915277], [54915417, 54915472], [54930348, 54930467]]
Promoter
Chrom Start End Description
chr4 54930633 54930638 CAGE_peak_8_at_CHIC2_5end
chr4 54930662 54930701 CAGE_peak_3_at_CHIC2_5end
chr4 54930725 54930736 CAGE_peak_4_at_CHIC2_5end
chr4 54930753 54930786 CAGE_peak_1_at_CHIC2_5end
chr4 54930790 54930838 CAGE_peak_2_at_CHIC2_5end
chr4 54930876 54930887 CAGE_peak_5_at_CHIC2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I053676 53676260 53677016 0.95 [{'connected_gene': 'LNX1', 'score': 18.04}, {'connected_gene': 'CHIC2', 'score': 5.77}, {'connected_gene': 'PDGFRA', 'score': 4.98}, {'connected_gene': 'GC04M053662', 'score': 0.44}, {'connected_gene': 'LOC100506444', 'score': 0.37}, {'connected_gene': 'ENSG00000282278', 'score': 0.06}]
chr4 GH04I053701 53701692 53703934 1.36 [{'connected_gene': 'LNX1', 'score': 550.77}, {'connected_gene': 'CHIC2', 'score': 5.09}, {'connected_gene': 'GC04P053729', 'score': 0.31}, {'connected_gene': 'LOC100506444', 'score': 0.26}, {'connected_gene': 'ENSG00000282278', 'score': 0.05}]
chr4 GH04I053734 53734215 53735743 0.98 [{'connected_gene': 'LNX1', 'score': 11.41}, {'connected_gene': 'LOC100506444', 'score': 11.3}, {'connected_gene': 'CHIC2', 'score': 3.19}, {'connected_gene': 'GC04P053729', 'score': 0.44}, {'connected_gene': 'ENSG00000249706', 'score': 0.1}, {'connected_gene': 'ENSG00000282278', 'score': 0.05}]
chr4 GH04I053376 53376889 53379201 1.98 [{'connected_gene': 'FIP1L1', 'score': 562.08}, {'connected_gene': 'ENSG00000282278', 'score': 550.77}, {'connected_gene': 'LOC105377654', 'score': 550.77}, {'connected_gene': 'ENSG00000272650', 'score': 11.73}, {'connected_gene': 'CHIC2', 'score': 11.26}, {'connected_gene': 'SCFD2', 'score': 5.87}, {'connected_gene': 'GC04M053405', 'score': 0.29}]
chr4 GH04I053687 53687279 53689214 1.3 [{'connected_gene': 'CHIC2', 'score': 4.15}, {'connected_gene': 'LNX1', 'score': 0.39}, {'connected_gene': 'GC04M053662', 'score': 0.34}, {'connected_gene': 'LOC100506444', 'score': 0.31}, {'connected_gene': 'ENSG00000282278', 'score': 0.06}]
chr4 GH04I053918 53918845 53920600 0.74 [{'connected_gene': 'CHIC2', 'score': 17.7}, {'connected_gene': 'ENSG00000249706', 'score': 14.37}, {'connected_gene': 'PDGFRA', 'score': 11.5}, {'connected_gene': 'GSX2', 'score': 10.99}, {'connected_gene': 'GC04M053928', 'score': 0.44}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I053991 53991484 53993291 0.57 [{'connected_gene': 'CHIC2', 'score': 10.29}, {'connected_gene': 'ENSG00000249706', 'score': 5.89}, {'connected_gene': 'RPL21P44', 'score': 0.44}, {'connected_gene': 'ENSG00000272650', 'score': 0.44}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I054103 54103401 54104471 0.43 [{'connected_gene': 'CHIC2', 'score': 10.8}, {'connected_gene': 'GSX2', 'score': 7.88}, {'connected_gene': 'RPL22P13', 'score': 0.13}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I053994 53994494 53994643 0.38 [{'connected_gene': 'CHIC2', 'score': 11.49}, {'connected_gene': 'GSX2', 'score': 10.84}, {'connected_gene': 'ENSG00000272650', 'score': 0.77}, {'connected_gene': 'RPL21P44', 'score': 0.44}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I054061 54061800 54068226 2.53 [{'connected_gene': 'CHIC2', 'score': 572.78}, {'connected_gene': 'GSX2', 'score': 11.47}, {'connected_gene': 'ENSG00000249706', 'score': 5.06}, {'connected_gene': 'ENSG00000269506', 'score': 0.44}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I054001 54001627 54002210 0.83 [{'connected_gene': 'CHIC2', 'score': 11.32}, {'connected_gene': 'GSX2', 'score': 11.06}, {'connected_gene': 'ENSG00000272650', 'score': 0.77}, {'connected_gene': 'GC04P054015', 'score': 0.39}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I054032 54032601 54033200 0.46 [{'connected_gene': 'CHIC2', 'score': 11.4}, {'connected_gene': 'GSX2', 'score': 10.67}, {'connected_gene': 'ENSG00000249706', 'score': 4.4}, {'connected_gene': 'GC04P054015', 'score': 0.37}, {'connected_gene': 'ENSG00000269506', 'score': 0.31}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I054024 54024582 54024800 0.25 [{'connected_gene': 'CHIC2', 'score': 11.14}, {'connected_gene': 'GSX2', 'score': 3.71}, {'connected_gene': 'GC04P054015', 'score': 0.44}, {'connected_gene': 'ENSG00000269506', 'score': 0.29}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I054031 54031801 54032200 0.31 [{'connected_gene': 'CHIC2', 'score': 11.4}, {'connected_gene': 'GSX2', 'score': 10.67}, {'connected_gene': 'ENSG00000249706', 'score': 5.35}, {'connected_gene': 'GC04P054015', 'score': 0.37}, {'connected_gene': 'ENSG00000269506', 'score': 0.31}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I054091 54091001 54092600 1.06 [{'connected_gene': 'CHIC2', 'score': 11.48}, {'connected_gene': 'ENSG00000249706', 'score': 4.33}, {'connected_gene': 'GC04P054087', 'score': 0.77}, {'connected_gene': 'GSX2', 'score': 0.44}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I054213 54213943 54214105 0.36 [{'connected_gene': 'GSX2', 'score': 10.79}, {'connected_gene': 'CHIC2', 'score': 1.5}, {'connected_gene': 'RPL22P13', 'score': 0.44}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I054019 54019964 54020563 0.28 [{'connected_gene': 'GSX2', 'score': 23.85}, {'connected_gene': 'GC04P054015', 'score': 0.77}, {'connected_gene': 'ENSG00000269506', 'score': 0.28}, {'connected_gene': 'CHIC2', 'score': 0.25}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I053363 53363800 53366975 2.03 [{'connected_gene': 'SCFD2', 'score': 556.77}, {'connected_gene': 'ENSG00000272650', 'score': 11.73}, {'connected_gene': 'FIP1L1', 'score': 11.7}, {'connected_gene': 'CHIC2', 'score': 11.25}, {'connected_gene': 'GC04M053266', 'score': 0.15}, {'connected_gene': 'RNU6-310P', 'score': 0.15}]
chr4 GH04I053913 53913565 53918491 1.23 [{'connected_gene': 'ENSG00000249706', 'score': 15.31}, {'connected_gene': 'PDGFRA', 'score': 11.75}, {'connected_gene': 'CHIC2', 'score': 9.02}, {'connected_gene': 'GC04M053928', 'score': 0.39}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I054013 54013479 54014159 0.4 [{'connected_gene': 'GC04P054015', 'score': 550.77}, {'connected_gene': 'ENSG00000272650', 'score': 0.37}, {'connected_gene': 'CHIC2', 'score': 0.23}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I054015 54015055 54016288 1.11 [{'connected_gene': 'GC04P054015', 'score': 550.77}, {'connected_gene': 'ENSG00000272650', 'score': 0.37}, {'connected_gene': 'CHIC2', 'score': 0.25}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I053928 53928801 53929103 0.88 [{'connected_gene': 'GC04M053928', 'score': 550.77}, {'connected_gene': 'LOC100129728', 'score': 550.77}, {'connected_gene': 'CHIC2', 'score': 10.75}, {'connected_gene': 'GSX2', 'score': 10.75}, {'connected_gene': 'RPL21P44', 'score': 0.22}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]
chr4 GH04I053929 53929545 53930401 0.98 [{'connected_gene': 'GC04M053928', 'score': 550.77}, {'connected_gene': 'LOC100129728', 'score': 550.77}, {'connected_gene': 'GSX2', 'score': 10.76}, {'connected_gene': 'CHIC2', 'score': 10.75}, {'connected_gene': 'ENSG00000272650', 'score': 9.84}, {'connected_gene': 'RPL21P44', 'score': 0.22}, {'connected_gene': 'ENSG00000282278', 'score': 0.03}]