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
ENST00000327347 [[13359423, 13361356], [13364834, 13365047], [13370350, 13370450], [13371697, 13371788], [13375816, 13375971], [13378242, 13378350], [13380704, 13380808], [13386757, 13387028], [13389999, 13390297]] [[13361141, 13361356], [13364834, 13365047], [13370350, 13370450], [13371697, 13371788], [13375816, 13375971], [13378242, 13378350], [13380704, 13380808], [13386757, 13386950]]
ENST00000378614 [[13360079, 13361356], [13370350, 13370450], [13371697, 13371788], [13375816, 13375971], [13378242, 13378350], [13380704, 13380808], [13386757, 13387028], [13389999, 13390280]] [[13361141, 13361356], [13370350, 13370450], [13371697, 13371788], [13375816, 13375971], [13378242, 13378350], [13380704, 13380808], [13386757, 13386950]]
ENST00000545675 [[13360082, 13361356], [13363973, 13364065], [13364834, 13365047], [13370350, 13370450], [13371697, 13371788], [13375816, 13375971], [13378242, 13378350], [13380704, 13380808], [13386757, 13387028], [13389999, 13390280]] [[13364054, 13364065], [13364834, 13365047], [13370350, 13370450], [13371697, 13371788], [13375816, 13375971], [13378242, 13378350], [13380704, 13380808], [13386757, 13386950]]
ENST00000537130 [[13360589, 13361356], [13364834, 13365047], [13370350, 13370450], [13371697, 13371788], [13375816, 13375971], [13378242, 13378350], [13380704, 13380808], [13389999, 13390030]] [[13361141, 13361356], [13364834, 13365047], [13370350, 13370450], [13371697, 13371788], [13375816, 13375971], [13378242, 13378350], [13380704, 13380800]]
ENST00000413411 [[13375876, 13375971], [13378242, 13378350], [13380704, 13380808], [13386757, 13387028], [13389276, 13389358]] [[13375876, 13375971], [13378242, 13378350], [13380704, 13380808], [13386757, 13386950]]
ENST00000425947 [[13375900, 13375971], [13378242, 13378350], [13380704, 13380808], [13382690, 13382790]] [[13375900, 13375971], [13378242, 13378350], [13380704, 13380800]]
ENST00000494329 [[13380715, 13380808], [13386757, 13387460]] None
NM_012247 [[13359437, 13361356], [13364834, 13365047], [13370350, 13370450], [13371697, 13371788], [13375816, 13375971], [13378242, 13378350], [13380704, 13380808], [13386757, 13387028], [13389999, 13390298]] [[13361141, 13361356], [13364834, 13365047], [13370350, 13370450], [13371697, 13371788], [13375816, 13375971], [13378242, 13378350], [13380704, 13380808], [13386757, 13386950]]
NM_001195604 [[13359437, 13361356], [13370350, 13370450], [13371697, 13371788], [13375816, 13375971], [13378242, 13378350], [13380704, 13380808], [13386757, 13387028], [13389999, 13390298]] [[13361141, 13361356], [13370350, 13370450], [13371697, 13371788], [13375816, 13375971], [13378242, 13378350], [13380704, 13380808], [13386757, 13386950]]
NM_001195602 [[13359437, 13361356], [13364834, 13365047], [13370350, 13370450], [13371697, 13371788], [13375816, 13375971], [13378242, 13378350], [13380704, 13380808], [13389999, 13390298]] [[13361141, 13361356], [13364834, 13365047], [13370350, 13370450], [13371697, 13371788], [13375816, 13375971], [13378242, 13378350], [13380704, 13380800]]
Promoter
Chrom Start End Description
chr10 13389654 13389710 CAGE_peak_3_at_SEPHS1_5end
chr10 13390021 13390040 CAGE_peak_6_at_SEPHS1_5end
chr10 13390193 13390218 CAGE_peak_4_at_SEPHS1_5end
chr10 13390222 13390246 CAGE_peak_1_at_SEPHS1_5end
chr10 13390252 13390269 CAGE_peak_5_at_SEPHS1_5end
chr10 13390270 13390316 CAGE_peak_2_at_SEPHS1_5end
chr10 13390590 13390601 CAGE_peak_13_at_SEPHS1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I014184 14184413 14186761 1.23 [{'connected_gene': 'DCLRE1C', 'score': 41.31}, {'connected_gene': 'PRPF18', 'score': 35.8}, {'connected_gene': 'ENSG00000239665', 'score': 32.31}, {'connected_gene': 'ENSG00000273474', 'score': 31.22}, {'connected_gene': 'HSPA14', 'score': 23.28}, {'connected_gene': 'SEPHS1', 'score': 22.77}, {'connected_gene': 'RPP38', 'score': 20.46}, {'connected_gene': 'GC10P014189', 'score': 0.77}, {'connected_gene': 'LOC101928453', 'score': 0.14}, {'connected_gene': 'FRMD4A', 'score': 0.06}]
chr10 GH10I013193 13193342 13193711 0.39 [{'connected_gene': 'MCM10', 'score': 11.54}, {'connected_gene': 'RPL36AP36', 'score': 11.54}, {'connected_gene': 'BTBD7P1', 'score': 11.52}, {'connected_gene': 'SEPHS1', 'score': 10.86}, {'connected_gene': 'GC10P013202', 'score': 0.44}]
chr10 GH10I013298 13298864 13303161 2.29 [{'connected_gene': 'PHYH', 'score': 583.25}, {'connected_gene': 'SEPHS1', 'score': 10.95}, {'connected_gene': 'ENSG00000239665', 'score': 9.86}, {'connected_gene': 'GC10P013293', 'score': 0.44}]
chr10 GH10I013346 13345201 13345400 0.4 [{'connected_gene': 'PHYH', 'score': 10.58}, {'connected_gene': 'SEPHS1', 'score': 0.77}, {'connected_gene': 'PIR32930', 'score': 0.37}, {'connected_gene': 'GC10M013327', 'score': 0.37}]
chr10 GH10I013337 13337509 13341397 0.89 [{'connected_gene': 'PHYH', 'score': 26.27}, {'connected_gene': 'SEPHS1', 'score': 0.44}, {'connected_gene': 'PIR32930', 'score': 0.39}, {'connected_gene': 'GC10M013327', 'score': 0.39}]
chr10 GH10I013329 13329400 13330747 0.38 [{'connected_gene': 'PHYH', 'score': 22.47}, {'connected_gene': 'PIR32930', 'score': 0.77}, {'connected_gene': 'GC10M013327', 'score': 0.77}, {'connected_gene': 'SEPHS1', 'score': 0.37}]
chr10 GH10I013328 13328626 13328968 0.38 [{'connected_gene': 'PHYH', 'score': 22.94}, {'connected_gene': 'PIR32930', 'score': 0.77}, {'connected_gene': 'GC10M013327', 'score': 0.77}, {'connected_gene': 'SEPHS1', 'score': 0.37}]
chr10 GH10I013977 13977953 13980132 0.92 [{'connected_gene': 'HSPA14', 'score': 12.52}, {'connected_gene': 'SEPHS1', 'score': 12.26}, {'connected_gene': 'ENSG00000239665', 'score': 11.23}, {'connected_gene': 'LOC105376425', 'score': 10.53}, {'connected_gene': 'ENSG00000273474', 'score': 10.01}, {'connected_gene': 'LOC101928453', 'score': 9.11}, {'connected_gene': 'GC10M013770', 'score': 0.21}, {'connected_gene': 'FRMD4A', 'score': 0.04}]
chr10 GH10I012656 12656642 12656811 0.6 [{'connected_gene': 'SEPHS1', 'score': 12.26}, {'connected_gene': 'ENSG00000228302', 'score': 11.97}, {'connected_gene': 'ENSG00000239665', 'score': 11.2}, {'connected_gene': 'CAMK1D', 'score': 10.79}, {'connected_gene': 'MIR548Q', 'score': 10.56}, {'connected_gene': 'CCDC3', 'score': 9.52}, {'connected_gene': 'OPTN', 'score': 9.52}, {'connected_gene': 'MIR4481', 'score': 0.77}, {'connected_gene': 'GC10P012703', 'score': 0.25}]
chr10 GH10I014259 14259384 14261870 0.85 [{'connected_gene': 'SEPHS1', 'score': 12.29}, {'connected_gene': 'ENSG00000239665', 'score': 10.4}, {'connected_gene': 'GC10P014236', 'score': 0.34}, {'connected_gene': 'GC10P014310', 'score': 0.23}, {'connected_gene': 'FRMD4A', 'score': 0.08}]
chr10 GH10I013345 13345521 13352810 2.74 [{'connected_gene': 'SEPHS1', 'score': 556.79}, {'connected_gene': 'PHYH', 'score': 25.28}, {'connected_gene': 'BTBD7P1', 'score': 22.9}, {'connected_gene': 'PRPF18', 'score': 19.52}, {'connected_gene': 'GC10P013355', 'score': 0.77}, {'connected_gene': 'PIR45625', 'score': 0.77}]
chr10 GH10I012444 12444853 12446482 0.91 [{'connected_gene': 'SEPHS1', 'score': 22.67}, {'connected_gene': 'UPF2', 'score': 21.74}, {'connected_gene': 'ENSG00000252438', 'score': 12.43}, {'connected_gene': 'CAMK1D', 'score': 11.4}, {'connected_gene': 'ENSG00000228302', 'score': 10.33}, {'connected_gene': 'GC10M012437', 'score': 0.77}, {'connected_gene': 'RNU6ATAC39P', 'score': 0.39}]
chr10 GH10I013316 13316788 13316850 0.2 [{'connected_gene': 'SEPHS1', 'score': 11.84}, {'connected_gene': 'UCMA', 'score': 10.89}, {'connected_gene': 'C8orf59P1', 'score': 0.44}, {'connected_gene': 'PIR32930', 'score': 0.44}, {'connected_gene': 'GC10M013327', 'score': 0.44}]
chr10 GH10I013318 13318809 13319019 0.4 [{'connected_gene': 'SEPHS1', 'score': 11.86}, {'connected_gene': 'UCMA', 'score': 10.89}, {'connected_gene': 'PIR32930', 'score': 0.44}, {'connected_gene': 'GC10M013327', 'score': 0.44}, {'connected_gene': 'C8orf59P1', 'score': 0.39}]
chr10 GH10I013322 13322425 13323196 0.38 [{'connected_gene': 'SEPHS1', 'score': 12.12}, {'connected_gene': 'UCMA', 'score': 10.88}, {'connected_gene': 'PIR32930', 'score': 0.77}, {'connected_gene': 'GC10M013327', 'score': 0.77}, {'connected_gene': 'C8orf59P1', 'score': 0.39}]
chr10 GH10I013450 13450221 13450370 0.43 [{'connected_gene': 'SEPHS1', 'score': 11.77}, {'connected_gene': 'LOC105376420', 'score': 0.28}, {'connected_gene': 'ENSG00000202508', 'score': 0.21}, {'connected_gene': 'BEND7', 'score': 0.18}]
chr10 GH10I013403 13403789 13405343 1.15 [{'connected_gene': 'SEPHS1', 'score': 10.98}, {'connected_gene': 'LOC105376420', 'score': 0.44}, {'connected_gene': 'LOC105376419', 'score': 0.34}]
chr10 GH10I013395 13395621 13395870 0.38 [{'connected_gene': 'SEPHS1', 'score': 11.17}, {'connected_gene': 'LOC105376419', 'score': 0.39}, {'connected_gene': 'LOC105376420', 'score': 0.37}]
chr10 GH10I013390 13390445 13391191 0.56 [{'connected_gene': 'SEPHS1', 'score': 11.49}, {'connected_gene': 'LOC105376419', 'score': 0.44}, {'connected_gene': 'LOC105376420', 'score': 0.34}]
chr10 GH10I013998 13998258 13998270 0.35 [{'connected_gene': 'SEPHS1', 'score': 15.31}, {'connected_gene': 'ENSG00000228330', 'score': 12.14}, {'connected_gene': 'LOC101928453', 'score': 10.41}, {'connected_gene': 'FRMD4A', 'score': 1.4}, {'connected_gene': 'LOC105376425', 'score': 0.44}, {'connected_gene': 'PIR39920', 'score': 0.2}]
chr10 GH10I012983 12983779 12985000 0.72 [{'connected_gene': 'SEPHS1', 'score': 12.28}, {'connected_gene': 'ENSG00000239665', 'score': 11.21}, {'connected_gene': 'ENSG00000273474', 'score': 9.98}, {'connected_gene': 'MIR548Q', 'score': 9.87}, {'connected_gene': 'CCDC3', 'score': 9.58}, {'connected_gene': 'RNA5SP300', 'score': 0.22}, {'connected_gene': 'RPL5P25', 'score': 0.19}]
chr10 GH10I012609 12609579 12611031 0.38 [{'connected_gene': 'SEPHS1', 'score': 15.3}, {'connected_gene': 'ENSG00000228330', 'score': 12.14}, {'connected_gene': 'ENSG00000228302', 'score': 11.06}, {'connected_gene': 'MIR548Q', 'score': 10.74}, {'connected_gene': 'CAMK1D', 'score': 10.63}, {'connected_gene': 'GC10M012628', 'score': 0.37}, {'connected_gene': 'MIR4480', 'score': 0.29}]
chr10 GH10I013537 13537692 13538448 0.65 [{'connected_gene': 'BEND7', 'score': 14.61}, {'connected_gene': 'ENSG00000273474', 'score': 11.27}, {'connected_gene': 'SEPHS1', 'score': 10.97}, {'connected_gene': 'PRPF18', 'score': 10.37}, {'connected_gene': 'LOC105376422', 'score': 0.39}, {'connected_gene': 'GC10M013518', 'score': 0.17}]
chr10 GH10I013439 13439801 13440888 1.03 [{'connected_gene': 'BEND7', 'score': 19.42}, {'connected_gene': 'LOC105376421', 'score': 12.12}, {'connected_gene': 'SEPHS1', 'score': 11.52}, {'connected_gene': 'LOC105376420', 'score': 0.31}, {'connected_gene': 'ENSG00000202508', 'score': 0.19}]
chr10 GH10I012405 12405102 12406197 0.92 [{'connected_gene': 'ENSG00000228330', 'score': 14.29}, {'connected_gene': 'CAMK1D', 'score': 12.06}, {'connected_gene': 'SEPHS1', 'score': 11.15}, {'connected_gene': 'GC10P012400', 'score': 0.44}, {'connected_gene': 'GC10P012415', 'score': 0.39}]
chr10 GH10I012500 12500950 12502153 1.16 [{'connected_gene': 'ENSG00000228330', 'score': 14.29}, {'connected_gene': 'ENSG00000252438', 'score': 11.25}, {'connected_gene': 'SEPHS1', 'score': 11.16}, {'connected_gene': 'CAMK1D', 'score': 10.64}, {'connected_gene': 'MIR548Q', 'score': 10.47}, {'connected_gene': 'SEC61A2', 'score': 1.32}, {'connected_gene': 'GC10P012490', 'score': 0.39}, {'connected_gene': 'GC10P012491', 'score': 0.39}, {'connected_gene': 'GC10P012540', 'score': 0.28}]
chr10 GH10I012514 12514042 12514191 0.75 [{'connected_gene': 'ENSG00000228330', 'score': 14.29}, {'connected_gene': 'SEPHS1', 'score': 11.16}, {'connected_gene': 'GC10P012491', 'score': 0.34}, {'connected_gene': 'GC10P012490', 'score': 0.34}, {'connected_gene': 'GC10P012540', 'score': 0.31}, {'connected_gene': 'CAMK1D', 'score': 0.1}]
chr10 GH10I013334 13334772 13335442 0.49 [{'connected_gene': 'PIR32930', 'score': 0.44}, {'connected_gene': 'GC10M013327', 'score': 0.44}, {'connected_gene': 'SEPHS1', 'score': 0.39}]