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
ENST00000355468 [[39958198, 39959231], [39959538, 39959683], [39963047, 39963131], [39964110, 39964256], [39965957, 39966086], [39967114, 39967286], [39967383, 39967536], [39967705, 39968394], [39968615, 39968855]] [[39959208, 39959231], [39959538, 39959683], [39963047, 39963131], [39964110, 39964256], [39965957, 39966086], [39967114, 39967286], [39967383, 39967536], [39967705, 39968167]]
ENST00000484247 [[39958205, 39959231], [39959538, 39959683], [39963047, 39963742]] None
ENST00000393928 [[39958205, 39959231], [39959538, 39959683], [39963047, 39963131], [39964110, 39964256], [39965957, 39966086], [39967114, 39967286], [39967383, 39967536], [39967705, 39968451]] [[39959208, 39959231], [39959538, 39959683], [39963047, 39963131], [39964110, 39964256], [39965957, 39966086], [39967114, 39967286], [39967383, 39967536], [39967705, 39968167]]
ENST00000465097 [[39958571, 39958675], [39958962, 39959231], [39959538, 39959683], [39963047, 39963100]] [[39959208, 39959231], [39959538, 39959683], [39963047, 39963100]]
ENST00000592026 [[39963047, 39963131], [39964110, 39964256], [39967114, 39967286], [39967383, 39967536], [39967705, 39967812]] [[39963047, 39963131], [39964110, 39964256], [39967114, 39967286], [39967383, 39967536], [39967705, 39967812]]
ENST00000587455 [[39963076, 39963131], [39966931, 39967412]] None
ENST00000467164 [[39966932, 39967286], [39967383, 39967536], [39967705, 39967921]] None
ENST00000590496 [[39967912, 39968380], [39968819, 39968856]] [[39967912, 39968167]]
NM_006455 [[39958204, 39959231], [39959538, 39959683], [39963047, 39963131], [39964110, 39964256], [39965957, 39966086], [39967114, 39967286], [39967383, 39967536], [39967705, 39968451]] [[39959208, 39959231], [39959538, 39959683], [39963047, 39963131], [39964110, 39964256], [39965957, 39966086], [39967114, 39967286], [39967383, 39967536], [39967705, 39968167]]
Promoter
Chrom Start End Description
chr17 39968182 39968244 CAGE_peak_1_at_LEPREL4_5end
chr17 39968406 39968410 CAGE_peak_6_at_LEPREL4_5end
chr17 39968862 39968880 CAGE_peak_3_at_LEPREL4_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 GH17I041705 41705005 41706620 1.3 [{'connected_gene': 'HAP1', 'score': 16.73}, {'connected_gene': 'RN7SL399P', 'score': 11.99}, {'connected_gene': 'FKBP10', 'score': 10.93}, {'connected_gene': 'P3H4', 'score': 10.93}, {'connected_gene': 'KLHL10', 'score': 10.75}, {'connected_gene': 'NT5C3B', 'score': 10.74}, {'connected_gene': 'ENSG00000267765', 'score': 5.03}, {'connected_gene': 'ZNF385C', 'score': 3.98}, {'connected_gene': 'TTC25', 'score': 1.3}, {'connected_gene': 'GAST', 'score': 0.44}, {'connected_gene': 'GC17P041692', 'score': 0.39}, {'connected_gene': 'GC17P041691', 'score': 0.39}]
chr17 GH17I041696 41696256 41697922 1.27 [{'connected_gene': 'HAP1', 'score': 17.34}, {'connected_gene': 'RN7SL399P', 'score': 11.79}, {'connected_gene': 'FKBP10', 'score': 10.87}, {'connected_gene': 'P3H4', 'score': 10.87}, {'connected_gene': 'NT5C3B', 'score': 10.27}, {'connected_gene': 'KLHL10', 'score': 10.27}, {'connected_gene': 'KLHL11', 'score': 10.25}, {'connected_gene': 'ZNF385C', 'score': 4.37}, {'connected_gene': 'GC17P041692', 'score': 0.44}, {'connected_gene': 'GC17P041691', 'score': 0.44}, {'connected_gene': 'GAST', 'score': 0.37}]
chr17 GH17I042386 42386291 42390604 2.35 [{'connected_gene': 'STAT3', 'score': 562.22}, {'connected_gene': 'GC17M042386', 'score': 550.77}, {'connected_gene': 'ENSG00000267765', 'score': 28.41}, {'connected_gene': 'ENSG00000267002', 'score': 24.55}, {'connected_gene': 'ENSG00000259623', 'score': 22.85}, {'connected_gene': 'NBR1', 'score': 21.81}, {'connected_gene': 'CCR10', 'score': 21.71}, {'connected_gene': 'KAT2A', 'score': 21.5}, {'connected_gene': 'CNTNAP1', 'score': 19.85}, {'connected_gene': 'KLHL10', 'score': 15.57}, {'connected_gene': 'HMGN1P29', 'score': 14.7}, {'connected_gene': 'ENSG00000267758', 'score': 14.14}, {'connected_gene': 'ENSG00000267340', 'score': 13.59}, {'connected_gene': 'TUBG2', 'score': 13.36}, {'connected_gene': 'PSMC3IP', 'score': 13.11}, {'connected_gene': 'CAVIN1', 'score': 12.49}, {'connected_gene': 'HSD17B1', 'score': 12.45}, {'connected_gene': 'LINC00854', 'score': 11.68}, {'connected_gene': 'GHDC', 'score': 11.5}, {'connected_gene': 'P3H4', 'score': 11.21}, {'connected_gene': 'RNU7-97P', 'score': 11.04}, {'connected_gene': 'ATP6V0A1', 'score': 11.03}, {'connected_gene': 'KLHL11', 'score': 10.85}, {'connected_gene': 'CNTD1', 'score': 10.29}, {'connected_gene': 'NAGLU', 'score': 10.26}, {'connected_gene': 'NBR2', 'score': 10.24}, {'connected_gene': 'PLEKHH3', 'score': 10.19}, {'connected_gene': 'STAT5A', 'score': 10.06}, {'connected_gene': 'LOC108783654', 'score': 10.04}, {'connected_gene': 'RND2', 'score': 9.95}, {'connected_gene': 'AOC4P', 'score': 4.28}]
chr17 GH17I042515 42515813 42527972 1.75 [{'connected_gene': 'MLX', 'score': 20.59}, {'connected_gene': 'TUBG2', 'score': 19.88}, {'connected_gene': 'ENSG00000267002', 'score': 15.92}, {'connected_gene': 'CAVIN1', 'score': 15.81}, {'connected_gene': 'NAGLU', 'score': 15.79}, {'connected_gene': 'ENSG00000267340', 'score': 13.59}, {'connected_gene': 'RAB5C', 'score': 12.5}, {'connected_gene': 'KAT2A', 'score': 12.26}, {'connected_gene': 'ATP6V0A1', 'score': 12.1}, {'connected_gene': 'RNU7-97P', 'score': 11.99}, {'connected_gene': 'NBR2', 'score': 11.76}, {'connected_gene': 'P3H4', 'score': 11.21}, {'connected_gene': 'CCR10', 'score': 10.68}, {'connected_gene': 'HCRT', 'score': 10.12}, {'connected_gene': 'KCNH4', 'score': 10.12}, {'connected_gene': 'BECN1', 'score': 5.85}, {'connected_gene': 'DHX58', 'score': 4.58}, {'connected_gene': 'WNK4', 'score': 2.46}, {'connected_gene': 'GC17P042517', 'score': 0.77}, {'connected_gene': 'GC17P042532', 'score': 0.39}]
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 GH17I041818 41818976 41820352 0.6 [{'connected_gene': 'NT5C3B', 'score': 38.53}, {'connected_gene': 'FKBP10', 'score': 0.44}, {'connected_gene': 'P3H4', 'score': 0.44}, {'connected_gene': 'KLHL10', 'score': 0.37}]
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 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 GH17I041824 41824269 41824418 0.31 [{'connected_gene': 'NT5C3B', 'score': 28.32}, {'connected_gene': 'KLHL10', 'score': 0.39}, {'connected_gene': 'P3H4', 'score': 0.39}]
chr17 GH17I041695 41695989 41696238 1.08 [{'connected_gene': 'RN7SL399P', 'score': 11.45}, {'connected_gene': 'HAP1', 'score': 11.44}, {'connected_gene': 'FKBP10', 'score': 10.39}, {'connected_gene': 'P3H4', 'score': 10.39}, {'connected_gene': 'KLHL11', 'score': 10.25}, {'connected_gene': 'KLHL10', 'score': 9.64}, {'connected_gene': 'NT5C3B', 'score': 9.64}, {'connected_gene': 'GC17P041692', 'score': 0.77}, {'connected_gene': 'GC17P041691', 'score': 0.77}, {'connected_gene': 'GAST', 'score': 0.37}]
chr17 GH17I041810 41810595 41815029 2.04 [{'connected_gene': 'P3H4', 'score': 565.44}, {'connected_gene': 'FKBP10', 'score': 564.07}, {'connected_gene': 'PIR33798', 'score': 550.77}, {'connected_gene': 'DHX58', 'score': 19.61}, {'connected_gene': 'NT5C3B', 'score': 17.34}, {'connected_gene': 'CNTD1', 'score': 15.62}, {'connected_gene': 'CAVIN1', 'score': 13.27}, {'connected_gene': 'RETREG3', 'score': 12.93}, {'connected_gene': 'KAT2A', 'score': 12.27}, {'connected_gene': 'HSD17B1', 'score': 12.07}, {'connected_gene': 'ENSG00000267758', 'score': 12.0}, {'connected_gene': 'ENSG00000267765', 'score': 11.49}, {'connected_gene': 'HSD17B1P1', 'score': 11.02}, {'connected_gene': 'STAT5A', 'score': 10.74}, {'connected_gene': 'CCR10', 'score': 10.61}, {'connected_gene': 'COASY', 'score': 10.47}, {'connected_gene': 'ACLY', 'score': 10.31}, {'connected_gene': 'NAGLU', 'score': 9.79}, {'connected_gene': 'KLHL10', 'score': 0.34}]
chr17 GH17I040827 40827145 40830016 1.04 [{'connected_gene': 'P3H4', 'score': 11.21}, {'connected_gene': 'KRT27', 'score': 10.5}, {'connected_gene': 'KRT23', 'score': 9.04}, {'connected_gene': 'MED24', 'score': 6.05}, {'connected_gene': 'PIR60311', 'score': 0.77}, {'connected_gene': 'KRT10', 'score': 0.44}, {'connected_gene': 'TMEM99', 'score': 0.44}]
chr17 GH17I041687 41687369 41693428 2.54 [{'connected_gene': 'EIF1', 'score': 550.77}, {'connected_gene': 'GC17P041691', 'score': 550.77}, {'connected_gene': 'GC17P041692', 'score': 550.77}, {'connected_gene': 'ENSG00000267758', 'score': 47.4}, {'connected_gene': 'ENSG00000259623', 'score': 35.06}, {'connected_gene': 'KLHL10', 'score': 34.17}, {'connected_gene': 'CNTNAP1', 'score': 31.7}, {'connected_gene': 'NT5C3B', 'score': 29.34}, {'connected_gene': 'STAT5A', 'score': 27.28}, {'connected_gene': 'CCR10', 'score': 21.59}, {'connected_gene': 'KLHL11', 'score': 21.07}, {'connected_gene': 'ACLY', 'score': 20.13}, {'connected_gene': 'HSD17B1', 'score': 20.02}, {'connected_gene': 'TMEM99', 'score': 19.38}, {'connected_gene': 'KAT2A', 'score': 19.04}, {'connected_gene': 'PLEKHH3', 'score': 18.92}, {'connected_gene': 'HSD17B1P1', 'score': 18.69}, {'connected_gene': 'NAGLU', 'score': 18.28}, {'connected_gene': 'LOC108783654', 'score': 18.26}, {'connected_gene': 'HAP1', 'score': 17.05}, {'connected_gene': 'TUBG2', 'score': 16.9}, {'connected_gene': 'PSMC3IP', 'score': 13.05}, {'connected_gene': 'GHDC', 'score': 11.45}, {'connected_gene': 'RN7SL399P', 'score': 11.42}, {'connected_gene': 'DHX58', 'score': 11.21}, {'connected_gene': 'RETREG3', 'score': 10.69}, {'connected_gene': 'FKBP10', 'score': 10.39}, {'connected_gene': 'P3H4', 'score': 10.39}, {'connected_gene': 'ENSG00000267632', 'score': 10.3}, {'connected_gene': 'RAB5C', 'score': 4.69}]
chr17 GH17I042256 42256843 42262133 0.69 [{'connected_gene': 'ENSG00000267002', 'score': 15.91}, {'connected_gene': 'ENSG00000267340', 'score': 13.58}, {'connected_gene': 'KAT2A', 'score': 12.33}, {'connected_gene': 'P3H4', 'score': 11.23}, {'connected_gene': 'CCR10', 'score': 10.63}, {'connected_gene': 'ATP6V0A1', 'score': 9.74}, {'connected_gene': 'CNP', 'score': 8.92}, {'connected_gene': 'STAT5A', 'score': 5.13}, {'connected_gene': 'HSPB9', 'score': 5.08}, {'connected_gene': 'GC17P042265', 'score': 0.44}, {'connected_gene': 'STAT5B', 'score': 0.37}, {'connected_gene': 'ENSG00000280295', 'score': 0.31}]
chr17 GH17I042743 42743476 42745672 2.05 [{'connected_gene': 'GC17P043494', 'score': 550.77}, {'connected_gene': 'EZH1', 'score': 550.77}, {'connected_gene': 'PIR37494', 'score': 550.77}, {'connected_gene': 'GC17P043437', 'score': 550.77}, {'connected_gene': 'PIR52240', 'score': 550.77}, {'connected_gene': 'PIR54479', 'score': 550.77}, {'connected_gene': 'GC17P043497', 'score': 550.77}, {'connected_gene': 'GC17P043436', 'score': 550.77}, {'connected_gene': 'PIR50243', 'score': 550.77}, {'connected_gene': 'PIR37978', 'score': 550.77}, {'connected_gene': 'GC17P043496', 'score': 550.77}, {'connected_gene': 'GC17M042742', 'score': 550.77}, {'connected_gene': 'GC17P043495', 'score': 550.77}, {'connected_gene': 'GC17P043514', 'score': 550.77}, {'connected_gene': 'PIR39772', 'score': 550.77}, {'connected_gene': 'ENSG00000267002', 'score': 17.15}, {'connected_gene': 'ENSG00000267340', 'score': 15.36}, {'connected_gene': 'KAT2A', 'score': 15.03}, {'connected_gene': 'MLX', 'score': 11.56}, {'connected_gene': 'P3H4', 'score': 11.02}, {'connected_gene': 'TUBG2', 'score': 7.62}]
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 GH17I040921 40921801 40923294 1.18 [{'connected_gene': 'ENSG00000234477', 'score': 550.77}, {'connected_gene': 'P3H4', 'score': 11.58}, {'connected_gene': 'MED24', 'score': 10.3}, {'connected_gene': 'TMEM99', 'score': 7.19}, {'connected_gene': 'KRTAP3-2', 'score': 5.16}, {'connected_gene': 'KRT23', 'score': 4.63}, {'connected_gene': 'GC17M040929', '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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