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
ENST00000540235 [[39775691, 39775940], [39776787, 39776810], [39776910, 39777131], [39777217, 39777343], [39777844, 39778006], [39778606, 39778763], [39779201, 39779284], [39923630, 39923832], [39925220, 39925459], [39925669, 39925929], [39927898, 39928106]] [[39775845, 39775940], [39776787, 39776810], [39776910, 39777131], [39777217, 39777343], [39777844, 39778006], [39778606, 39778763], [39779201, 39779284], [39923630, 39923832], [39925220, 39925459], [39925669, 39925929], [39927898, 39928106]]
ENST00000393930 [[39910855, 39911684], [39911981, 39912147], [39912426, 39912466], [39913666, 39913788], [39913885, 39914036], [39914650, 39914770], [39914966, 39915122], [39919234, 39919573], [39920964, 39921068], [39921174, 39921319], [39923630, 39923832], [39925220, 39925459], [39925669, 39925929], [39927898, 39928114], [39941198, 39941407]] [[39911995, 39912147], [39912426, 39912466], [39913666, 39913788], [39913885, 39914036], [39914650, 39914770], [39914966, 39915122], [39919234, 39919573], [39920964, 39921068], [39921174, 39921319], [39923630, 39923832], [39925220, 39925459], [39925669, 39925929], [39927898, 39928106]]
ENST00000310706 [[39910855, 39911684], [39911981, 39912147], [39912426, 39912466], [39913666, 39913788], [39913885, 39914036], [39914650, 39914770], [39914966, 39915122], [39919234, 39919573], [39920964, 39921068], [39921174, 39921319], [39923630, 39923832], [39925220, 39925459], [39925669, 39925929], [39927898, 39928114], [39942839, 39942950]] [[39911995, 39912147], [39912426, 39912466], [39913666, 39913788], [39913885, 39914036], [39914650, 39914770], [39914966, 39915122], [39919234, 39919573], [39920964, 39921068], [39921174, 39921319], [39923630, 39923832], [39925220, 39925459], [39925669, 39925929], [39927898, 39928106]]
ENST00000393931 [[39910855, 39912147], [39912426, 39912466], [39913666, 39913788], [39913885, 39914036], [39914650, 39914770], [39914966, 39915122], [39919234, 39919573], [39920964, 39921068], [39921174, 39921319], [39923630, 39923832], [39925220, 39925459], [39925669, 39925929], [39927898, 39928114], [39942839, 39942950]] [[39911995, 39912147], [39912426, 39912466], [39913666, 39913788], [39913885, 39914036], [39914650, 39914770], [39914966, 39915122], [39919234, 39919573], [39920964, 39921068], [39921174, 39921319], [39923630, 39923832], [39925220, 39925459], [39925669, 39925929], [39927898, 39928106]]
ENST00000585793 [[39914423, 39914770], [39914966, 39915122], [39919234, 39919329]] None
ENST00000449889 [[39923646, 39923832], [39925220, 39925459], [39925669, 39925929], [39927898, 39928114], [39942154, 39942322]] [[39923646, 39923832], [39925220, 39925459], [39925669, 39925929], [39927898, 39928106]]
ENST00000437187 [[39923652, 39923832], [39925220, 39925459], [39925669, 39925929], [39927898, 39928114], [39943049, 39943183]] [[39923652, 39923832], [39925220, 39925459], [39925669, 39925929], [39927898, 39928106]]
ENST00000420370 [[39923709, 39923832], [39925220, 39925459], [39925669, 39925929], [39927898, 39928114], [39928444, 39928521]] [[39923709, 39923832], [39925220, 39925459], [39925669, 39925929], [39927898, 39928106]]
ENST00000424457 [[39925220, 39925459], [39925669, 39925929], [39927898, 39928114], [39929069, 39929178], [39942839, 39942964]] [[39925220, 39925459], [39925669, 39925929], [39927898, 39928106]]
ENST00000591690 [[39925825, 39925929], [39927898, 39928114], [39942754, 39943017]] [[39925825, 39925929], [39927898, 39928106]]
ENST00000437369 [[39925877, 39925929], [39927898, 39928114], [39929069, 39929178], [39941198, 39941407]] [[39925877, 39925929], [39927898, 39928106]]
ENST00000589036 [[39927668, 39928111], [39942839, 39942962]] None
ENST00000465293 [[39928098, 39928114], [39929069, 39929178], [39942154, 39942461]] [[39928098, 39928106]]
NM_002230 [[39910858, 39912147], [39912426, 39912466], [39913666, 39913788], [39913885, 39914036], [39914650, 39914770], [39914966, 39915122], [39919234, 39919573], [39920964, 39921068], [39921174, 39921319], [39923630, 39923832], [39925220, 39925459], [39925669, 39925929], [39927898, 39928114], [39942839, 39942964]] [[39911995, 39912147], [39912426, 39912466], [39913666, 39913788], [39913885, 39914036], [39914650, 39914770], [39914966, 39915122], [39919234, 39919573], [39920964, 39921068], [39921174, 39921319], [39923630, 39923832], [39925220, 39925459], [39925669, 39925929], [39927898, 39928106]]
NM_021991 [[39910858, 39911684], [39911981, 39912147], [39912426, 39912466], [39913666, 39913788], [39913885, 39914036], [39914650, 39914770], [39914966, 39915122], [39919234, 39919573], [39920964, 39921068], [39921174, 39921319], [39923630, 39923832], [39925220, 39925459], [39925669, 39925929], [39927898, 39928114], [39942839, 39942964]] [[39911995, 39912147], [39912426, 39912466], [39913666, 39913788], [39913885, 39914036], [39914650, 39914770], [39914966, 39915122], [39919234, 39919573], [39920964, 39921068], [39921174, 39921319], [39923630, 39923832], [39925220, 39925459], [39925669, 39925929], [39927898, 39928106]]
Promoter
Chrom Start End Description
chr17 39928110 39928152 CAGE_peak_5_at_JUP_5end
chr17 39928474 39928485 CAGE_peak_17_at_JUP_5end
chr17 39928501 39928513 CAGE_peak_10_at_JUP_5end
chr17 39928947 39928958 CAGE_peak_19_at_JUP_5end
chr17 39928985 39929000 CAGE_peak_16_at_JUP_5end
chr17 39942208 39942219 CAGE_peak_7_at_JUP_5end
chr17 39942220 39942242 CAGE_peak_2_at_JUP_5end
chr17 39942245 39942256 CAGE_peak_9_at_JUP_5end
chr17 39942268 39942282 CAGE_peak_6_at_JUP_5end
chr17 39942286 39942313 CAGE_peak_3_at_JUP_5end
chr17 39942327 39942355 CAGE_peak_4_at_JUP_5end
chr17 39942940 39942970 CAGE_peak_1_at_JUP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I041737 41737524 41741225 1.23 [{'connected_gene': 'HAP1', 'score': 18.0}, {'connected_gene': 'JUP', 'score': 12.14}, {'connected_gene': 'GAST', 'score': 11.77}, {'connected_gene': 'FKBP10', 'score': 11.7}, {'connected_gene': 'P3H4', 'score': 11.7}, {'connected_gene': 'KLHL11', 'score': 10.94}, {'connected_gene': 'KAT2A', 'score': 10.11}]
chr17 GH17I041768 41768619 41769893 0.52 [{'connected_gene': 'HAP1', 'score': 5.49}, {'connected_gene': 'JUP', 'score': 0.37}]
chr17 GH17I041762 41762709 41764268 0.43 [{'connected_gene': 'HAP1', 'score': 4.44}, {'connected_gene': 'JUP', 'score': 0.34}]
chr17 GH17I041771 41771280 41780351 1.39 [{'connected_gene': 'HAP1', 'score': 5.81}, {'connected_gene': 'NT5C3B', 'score': 4.98}, {'connected_gene': 'KCNH4', 'score': 4.91}, {'connected_gene': 'JUP', 'score': 0.39}]
chr17 GH17I041518 41518469 41532039 2.8 [{'connected_gene': 'KRT19', 'score': 562.19}, {'connected_gene': 'KRT15', 'score': 556.16}, {'connected_gene': 'ENSG00000267758', 'score': 25.12}, {'connected_gene': 'SMARCE1', 'score': 21.17}, {'connected_gene': 'ACLY', 'score': 11.64}, {'connected_gene': 'DHX58', 'score': 11.19}, {'connected_gene': 'KRT36', 'score': 11.12}, {'connected_gene': 'ENSG00000259623', 'score': 11.03}, {'connected_gene': 'KRT14', 'score': 10.86}, {'connected_gene': 'STAT5A', 'score': 10.08}, {'connected_gene': 'LOC100505782', 'score': 9.78}, {'connected_gene': 'KRT31', 'score': 9.7}, {'connected_gene': 'ENSG00000234477', 'score': 9.36}, {'connected_gene': 'KRTAP9-2', 'score': 2.53}, {'connected_gene': 'KRTAP2-1', 'score': 2.23}, {'connected_gene': 'KRTAP2-2', 'score': 1.8}, {'connected_gene': 'KRTAP9-9', 'score': 1.75}, {'connected_gene': 'KRTAP9-1', 'score': 1.75}, {'connected_gene': 'KRTAP4-11', 'score': 1.59}, {'connected_gene': 'JUP', 'score': 1.55}]
chr17 GH17I041620 41620949 41627446 1.63 [{'connected_gene': 'KRT17', 'score': 554.56}, {'connected_gene': 'GC17M041622', 'score': 550.77}, {'connected_gene': 'GC17M041625', 'score': 550.77}, {'connected_gene': 'KRT9', 'score': 16.59}, {'connected_gene': 'KRT15', 'score': 13.38}, {'connected_gene': 'KRT14', 'score': 12.71}, {'connected_gene': 'KRT19', 'score': 12.27}, {'connected_gene': 'KRT40', 'score': 9.78}, {'connected_gene': 'ENSG00000234477', 'score': 9.37}, {'connected_gene': 'KRT37', 'score': 9.35}, {'connected_gene': 'KRT16', 'score': 7.62}, {'connected_gene': 'KRT36', 'score': 5.04}, {'connected_gene': 'JUP', 'score': 4.69}, {'connected_gene': 'CNP', 'score': 4.3}, {'connected_gene': 'RAB5C', 'score': 3.96}, {'connected_gene': 'KRT13', 'score': 1.59}, {'connected_gene': 'KRT42P', 'score': 0.37}]
chr17 GH17I041578 41578874 41589513 1.95 [{'connected_gene': 'KRT14', 'score': 555.67}, {'connected_gene': 'KRT16', 'score': 13.02}, {'connected_gene': 'JUP', 'score': 6.56}, {'connected_gene': 'KRT36', 'score': 6.06}, {'connected_gene': 'KRT9', 'score': 5.75}, {'connected_gene': 'KRT15', 'score': 4.76}, {'connected_gene': 'KRT17', 'score': 4.11}, {'connected_gene': 'KRT13', 'score': 4.01}, {'connected_gene': 'KRT19', 'score': 2.88}]
chr17 GH17I041506 41506481 41506658 1.09 [{'connected_gene': 'KRT13', 'score': 552.43}, {'connected_gene': 'KRT9', 'score': 10.18}, {'connected_gene': 'KRT36', 'score': 5.63}, {'connected_gene': 'KRTAP3-1', 'score': 5.13}, {'connected_gene': 'JUP', 'score': 3.25}, {'connected_gene': 'KRT19', 'score': 2.72}, {'connected_gene': 'MIR6510', 'score': 0.39}]
chr17 GH17I041760 41760887 41761681 0.2 [{'connected_gene': 'JUP', 'score': 0.31}, {'connected_gene': 'HAP1', 'score': 0.31}]
chr17 GH17I041781 41781194 41787975 2.29 [{'connected_gene': 'JUP', 'score': 635.76}, {'connected_gene': 'KLHL10', 'score': 15.78}, {'connected_gene': 'ACLY', 'score': 11.7}, {'connected_gene': 'ENSG00000267765', 'score': 11.24}, {'connected_gene': 'DHX58', 'score': 11.21}, {'connected_gene': 'KLHL11', 'score': 11.0}, {'connected_gene': 'ENSG00000267758', 'score': 10.59}, {'connected_gene': 'PLEKHH3', 'score': 10.15}, {'connected_gene': 'NT5C3B', 'score': 8.67}, {'connected_gene': 'TTC25', 'score': 6.37}, {'connected_gene': 'TUBG2', 'score': 4.5}, {'connected_gene': 'PIR32942', 'score': 0.77}, {'connected_gene': 'HAP1', 'score': 0.25}]
chr17 GH17I041791 41791636 41796772 1.7 [{'connected_gene': 'JUP', 'score': 93.77}, {'connected_gene': 'NT5C3B', 'score': 14.29}, {'connected_gene': 'KLHL11', 'score': 11.21}, {'connected_gene': 'KRT15', 'score': 6.89}, {'connected_gene': 'ENSG00000267632', 'score': 5.1}, {'connected_gene': 'TUBG2', 'score': 4.53}, {'connected_gene': 'ACLY', 'score': 4.32}, {'connected_gene': 'KRT19', 'score': 3.99}, {'connected_gene': 'KRT16', 'score': 3.84}, {'connected_gene': 'KRT17', 'score': 3.45}, {'connected_gene': 'KRT9', 'score': 2.29}, {'connected_gene': 'KRT14', 'score': 1.77}, {'connected_gene': 'KRT36', 'score': 1.34}, {'connected_gene': 'PIR32942', 'score': 0.44}, {'connected_gene': 'PIR33798', 'score': 0.37}]
chr17 GH17I041798 41798764 41802238 1.65 [{'connected_gene': 'JUP', 'score': 39.38}, {'connected_gene': 'NT5C3B', 'score': 25.67}, {'connected_gene': 'ENSG00000267758', 'score': 16.39}, {'connected_gene': 'KLHL11', 'score': 11.68}, {'connected_gene': 'KLHL10', 'score': 11.12}, {'connected_gene': 'RETREG3', 'score': 10.69}, {'connected_gene': 'STAT5A', 'score': 10.1}, {'connected_gene': 'LOC108783654', 'score': 10.0}, {'connected_gene': 'CNP', 'score': 9.85}, {'connected_gene': 'TTC25', 'score': 4.51}, {'connected_gene': 'KRT19', 'score': 3.0}, {'connected_gene': 'KRT17', 'score': 2.85}, {'connected_gene': 'KRT15', 'score': 1.67}, {'connected_gene': 'KRT16', 'score': 1.58}, {'connected_gene': 'KRT14', 'score': 1.37}, {'connected_gene': 'PIR33798', 'score': 0.39}, {'connected_gene': 'PIR32942', 'score': 0.39}, {'connected_gene': 'P3H4', 'score': 0.39}]
chr17 GH17I042071 42071609 42073165 0.63 [{'connected_gene': 'JUP', 'score': 8.34}, {'connected_gene': 'NT5C3B', 'score': 8.1}, {'connected_gene': 'CNP', 'score': 4.75}, {'connected_gene': 'C17orf113', 'score': 0.34}, {'connected_gene': 'ZNF385C', 'score': 0.31}]
chr17 GH17I041790 41790539 41791361 0.46 [{'connected_gene': 'JUP', 'score': 85.76}, {'connected_gene': 'PIR32942', 'score': 0.77}, {'connected_gene': 'PIR33798', 'score': 0.34}]
chr17 GH17I041891 41891107 41893151 0.76 [{'connected_gene': 'NT5C3B', 'score': 32.6}, {'connected_gene': 'KLHL11', 'score': 12.15}, {'connected_gene': 'KLHL10', 'score': 11.61}, {'connected_gene': 'HAP1', 'score': 11.5}, {'connected_gene': 'RN7SL399P', 'score': 11.49}, {'connected_gene': 'FKBP10', 'score': 11.15}, {'connected_gene': 'P3H4', 'score': 11.15}, {'connected_gene': 'CNP', 'score': 10.82}, {'connected_gene': 'JUP', 'score': 10.77}, {'connected_gene': 'GAST', 'score': 10.03}, {'connected_gene': 'ENSG00000267632', 'score': 4.34}, {'connected_gene': 'GC17M041900', 'score': 0.44}, {'connected_gene': 'PIR36467', 'score': 0.44}, {'connected_gene': 'ENSG00000274630', 'score': 0.34}, {'connected_gene': 'ACLY', 'score': 0.28}]
chr17 GH17I041770 41770060 41771107 0.46 [{'connected_gene': 'NT5C3B', 'score': 5.46}, {'connected_gene': 'JUP', 'score': 0.37}, {'connected_gene': 'HAP1', 'score': 0.28}]
chr17 GH17I041806 41806620 41807926 0.74 [{'connected_gene': 'NT5C3B', 'score': 36.76}, {'connected_gene': 'JUP', 'score': 12.35}, {'connected_gene': 'KLHL10', 'score': 11.93}, {'connected_gene': 'KLHL11', 'score': 11.44}, {'connected_gene': 'ENSG00000259623', 'score': 11.03}, {'connected_gene': 'CCR10', 'score': 10.81}, {'connected_gene': 'GAST', 'score': 10.37}, {'connected_gene': 'PIR33798', 'score': 0.77}, {'connected_gene': 'P3H4', 'score': 0.44}, {'connected_gene': 'PIR32942', 'score': 0.37}]
chr17 GH17I042063 42063343 42064645 1.16 [{'connected_gene': 'LOC108783654', 'score': 5.28}, {'connected_gene': 'IFI35', 'score': 5.03}, {'connected_gene': 'JUP', 'score': 4.16}, {'connected_gene': 'ATP6V0A1', 'score': 1.57}, {'connected_gene': 'C17orf113', 'score': 0.39}, {'connected_gene': 'ZNF385C', 'score': 0.29}]
chr17 GH17I041649 41649756 41659535 1.64 [{'connected_gene': 'ENSG00000267758', 'score': 25.24}, {'connected_gene': 'JUP', 'score': 20.78}, {'connected_gene': 'HSD17B1', 'score': 20.59}, {'connected_gene': 'DHX58', 'score': 19.59}, {'connected_gene': 'GHDC', 'score': 19.26}, {'connected_gene': 'ENSG00000259623', 'score': 16.31}, {'connected_gene': 'KRT14', 'score': 16.17}, {'connected_gene': 'CNP', 'score': 13.3}, {'connected_gene': 'PSMC3IP', 'score': 13.05}, {'connected_gene': 'RETREG3', 'score': 12.93}, {'connected_gene': 'KRT37', 'score': 11.39}, {'connected_gene': 'HSD17B1P1', 'score': 11.02}, {'connected_gene': 'NT5C3B', 'score': 10.96}, {'connected_gene': 'STAT5A', 'score': 10.55}, {'connected_gene': 'COASY', 'score': 10.46}, {'connected_gene': 'NAGLU', 'score': 10.16}, {'connected_gene': 'KAT2A', 'score': 9.79}, {'connected_gene': 'ENSG00000236194', 'score': 6.49}, {'connected_gene': 'KRT17', 'score': 6.03}, {'connected_gene': 'KRT16', 'score': 5.84}, {'connected_gene': 'HAP1', 'score': 5.52}, {'connected_gene': 'KRT42P', 'score': 5.49}, {'connected_gene': 'C17orf113', 'score': 5.42}, {'connected_gene': 'KRT19', 'score': 4.84}, {'connected_gene': 'KRT15', 'score': 2.41}, {'connected_gene': 'KRT9', 'score': 2.02}, {'connected_gene': 'KRT36', 'score': 1.7}, {'connected_gene': 'ENSG00000278954', 'score': 0.39}]
chr17 GH17I041716 41716794 41718746 0.96 [{'connected_gene': 'GC17P041719', 'score': 550.77}, {'connected_gene': 'RNA5SP442', 'score': 550.77}, {'connected_gene': 'JUP', 'score': 11.05}, {'connected_gene': 'FKBP10', 'score': 10.97}, {'connected_gene': 'P3H4', 'score': 10.97}, {'connected_gene': 'KLHL11', 'score': 10.74}, {'connected_gene': 'NT5C3B', 'score': 10.61}, {'connected_gene': 'KLHL10', 'score': 10.61}, {'connected_gene': 'HAP1', 'score': 9.96}, {'connected_gene': 'GAST', 'score': 0.44}]
chr17 GH17I042222 42222243 42222472 1.05 [{'connected_gene': 'ENSG00000267340', 'score': 39.53}, {'connected_gene': 'ENSG00000267002', 'score': 34.73}, {'connected_gene': 'NBR2', 'score': 23.11}, {'connected_gene': 'CNTNAP1', 'score': 21.75}, {'connected_gene': 'ENSG00000267765', 'score': 20.77}, {'connected_gene': 'TUBG2', 'score': 16.91}, {'connected_gene': 'CNTD1', 'score': 15.62}, {'connected_gene': 'NKIRAS2', 'score': 15.5}, {'connected_gene': 'KAT2A', 'score': 13.41}, {'connected_gene': 'JUP', 'score': 13.3}, {'connected_gene': 'RETREG3', 'score': 12.96}, {'connected_gene': 'HMGN2P15', 'score': 12.76}, {'connected_gene': 'RAMP2-AS1', 'score': 12.32}, {'connected_gene': 'ENSG00000259623', 'score': 12.32}, {'connected_gene': 'STAT5B', 'score': 12.23}, {'connected_gene': 'ENSG00000236194', 'score': 11.74}, {'connected_gene': 'C17orf113', 'score': 11.16}, {'connected_gene': 'HMGN1P29', 'score': 10.82}, {'connected_gene': 'STAT3', 'score': 10.57}, {'connected_gene': 'CCR10', 'score': 10.47}, {'connected_gene': 'CAVIN1', 'score': 10.38}, {'connected_gene': 'LOC108783654', 'score': 10.09}, {'connected_gene': 'PLEKHH3', 'score': 10.01}, {'connected_gene': 'DHX58', 'score': 10.0}, {'connected_gene': 'HSD17B1P1', 'score': 9.93}, {'connected_gene': 'P3H4', 'score': 9.79}, {'connected_gene': 'ATP6V0A1', 'score': 9.76}, {'connected_gene': 'RNU7-97P', 'score': 9.76}, {'connected_gene': 'ENSG00000280295', 'score': 0.39}, {'connected_gene': 'GHDC', 'score': 0.31}]

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