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
ENST00000246024 [[7957994, 7963268], [7964440, 7964504], [7967934, 7968036], [7976672, 7976718], [7980378, 7980507], [7982142, 7982188], [7990846, 7990962], [8000084, 8000476]] [[7962897, 7963268], [7964440, 7964504], [7967934, 7968036], [7976672, 7976718], [7980378, 7980507], [7982142, 7982188], [7990846, 7990962], [8000084, 8000260]]
ENST00000527925 [[7964440, 7964504], [7967934, 7968036], [7976672, 7976718], [7980378, 7980469], [7990846, 7990962], [8000084, 8000452]] [[7964440, 7964504], [7967934, 7968036], [7976672, 7976718], [7980378, 7980469], [7990846, 7990962], [8000084, 8000260]]
ENST00000462384 [[7967956, 7968036], [7976672, 7976718], [7980378, 7980507], [7982142, 7982188], [7990846, 7990962], [7999439, 7999686], [8000084, 8000293]] [[7999622, 7999686], [8000084, 8000260]]
ENST00000530935 [[7967970, 7968036], [7976672, 7976718], [7980378, 7980507], [7982142, 7982188], [7990846, 7990962], [7994414, 7994577]] None
NM_021156 [[7957999, 7963268], [7964440, 7964504], [7967934, 7968036], [7976672, 7976718], [7980378, 7980507], [7982142, 7982188], [7990846, 7990962], [8000084, 8000476]] [[7962897, 7963268], [7964440, 7964504], [7967934, 7968036], [7976672, 7976718], [7980378, 7980507], [7982142, 7982188], [7990846, 7990962], [8000084, 8000260]]
Promoter
Chrom Start End Description
chr20 8000268 8000303 CAGE_peak_3_at_TMX4_5end
chr20 8000311 8000323 CAGE_peak_6_at_TMX4_5end
chr20 8000330 8000338 CAGE_peak_8_at_TMX4_5end
chr20 8000340 8000359 CAGE_peak_5_at_TMX4_5end
chr20 8000361 8000375 CAGE_peak_4_at_TMX4_5end
chr20 8000391 8000420 CAGE_peak_1_at_TMX4_5end
chr20 8000426 8000471 CAGE_peak_2_at_TMX4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I007924 7924354 7925724 0.86 [{'connected_gene': 'TMX4', 'score': 5.58}, {'connected_gene': 'HAO1', 'score': 1.48}, {'connected_gene': 'ENSG00000277315', 'score': 0.22}]
chr20 GH20I008137 8137336 8138951 0.31 [{'connected_gene': 'TMX4', 'score': 4.93}, {'connected_gene': 'PHKBP1', 'score': 0.28}, {'connected_gene': 'GC20M008185', 'score': 0.23}, {'connected_gene': 'PLCB1', 'score': 0.21}]
chr20 GH20I008475 8475919 8476332 0.48 [{'connected_gene': 'TMX4', 'score': 3.6}, {'connected_gene': 'PLCB1', 'score': 2.12}, {'connected_gene': 'GC20P008366', 'score': 0.14}, {'connected_gene': 'GC20M008621', 'score': 0.11}]
chr20 GH20I008050 8050201 8050400 0.2 [{'connected_gene': 'TMX4', 'score': 7.97}, {'connected_gene': 'PIR52554', 'score': 0.34}, {'connected_gene': 'PLCB1', 'score': 0.31}]
chr20 GH20I008072 8072187 8074283 0.87 [{'connected_gene': 'TMX4', 'score': 5.8}, {'connected_gene': 'PLCB1', 'score': 0.77}, {'connected_gene': 'PIR52554', 'score': 0.26}]
chr20 GH20I008082 8082389 8083843 0.43 [{'connected_gene': 'TMX4', 'score': 6.0}, {'connected_gene': 'PLCB1', 'score': 0.44}, {'connected_gene': 'GC20M008097', 'score': 0.37}]
chr20 GH20I008094 8094304 8095870 1 [{'connected_gene': 'TMX4', 'score': 5.73}, {'connected_gene': 'GC20M008097', 'score': 0.77}, {'connected_gene': 'PLCB1', 'score': 0.37}]
chr20 GH20I008130 8129714 8129723 0.7 [{'connected_gene': 'TMX4', 'score': 10.45}, {'connected_gene': 'LOC105372520', 'score': 10.45}, {'connected_gene': 'PHKBP1', 'score': 0.31}, {'connected_gene': 'PLCB1', 'score': 0.23}, {'connected_gene': 'GC20M008185', 'score': 0.21}]
chr20 GH20I008129 8129754 8129863 0.76 [{'connected_gene': 'TMX4', 'score': 10.45}, {'connected_gene': 'LOC105372520', 'score': 10.45}, {'connected_gene': 'PHKBP1', 'score': 0.31}, {'connected_gene': 'PLCB1', 'score': 0.23}, {'connected_gene': 'GC20M008185', 'score': 0.22}]
chr20 GH20I008018 8018400 8021278 2.03 [{'connected_gene': 'TMX4', 'score': 564.62}, {'connected_gene': 'LOC105372520', 'score': 550.77}, {'connected_gene': 'GC20P008028', 'score': 0.44}]
chr20 GH20I008427 8427401 8428407 0.79 [{'connected_gene': 'PLCB1', 'score': 10.6}, {'connected_gene': 'TMX4', 'score': 8.46}, {'connected_gene': 'GC20P008366', 'score': 0.21}, {'connected_gene': 'GC20M008621', 'score': 0.08}]
chr20 GH20I008431 8431880 8433583 0.95 [{'connected_gene': 'PLCB1', 'score': 4.98}, {'connected_gene': 'TMX4', 'score': 1.41}, {'connected_gene': 'GC20P008366', 'score': 0.2}, {'connected_gene': 'GC20M008621', 'score': 0.08}]
chr20 GH20I008039 8039094 8039243 0.63 [{'connected_gene': 'LOC105372520', 'score': 11.43}, {'connected_gene': 'TMX4', 'score': 5.41}, {'connected_gene': 'PIR52554', 'score': 0.44}, {'connected_gene': 'PLCB1', 'score': 0.28}]
chr20 GH20I008722 8722414 8722583 0.75 [{'connected_gene': 'LOC105372520', 'score': 11.08}, {'connected_gene': 'TMX4', 'score': 11.08}, {'connected_gene': 'LOC105372521', 'score': 0.2}, {'connected_gene': 'GC20P008831', 'score': 0.14}, {'connected_gene': 'RNU105B', 'score': 0.14}, {'connected_gene': 'PLCB1', 'score': 0.03}]