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
ENST00000458656 [[39873993, 39874278], [39881017, 39881333]] [[39874258, 39874278], [39881017, 39881333]]
ENST00000442364 [[39873993, 39874278], [39881017, 39881081], [39881255, 39881393]] [[39874258, 39874278], [39881017, 39881081], [39881255, 39881393]]
ENST00000455021 [[39873993, 39874278], [39882110, 39882149]] [[39874196, 39874278], [39882110, 39882149]]
ENST00000393939 [[39877064, 39881406], [39882110, 39882149], [39883304, 39883396], [39884452, 39884583], [39887744, 39887811], [39887889, 39887995], [39888188, 39888370], [39888481, 39888646], [39888970, 39889050], [39890417, 39890896]] [[39880952, 39881406], [39882110, 39882149], [39883304, 39883396], [39884452, 39884583], [39887744, 39887811], [39887889, 39887995], [39888188, 39888370], [39888481, 39888646], [39888970, 39889050], [39890417, 39890886]]
ENST00000347901 [[39878891, 39881406], [39882110, 39882149], [39883304, 39883396], [39884013, 39884088], [39884452, 39884583], [39887744, 39887811], [39887889, 39887995], [39888188, 39888370], [39888481, 39888646], [39888970, 39889050], [39890417, 39890896]] [[39880952, 39881406], [39882110, 39882149], [39883304, 39883396], [39884013, 39884088], [39884452, 39884583], [39887744, 39887811], [39887889, 39887995], [39888188, 39888370], [39888481, 39888646], [39888970, 39889050], [39890417, 39890886]]
ENST00000341193 [[39878891, 39881406], [39882110, 39882149], [39883304, 39883396], [39884452, 39884583], [39887744, 39887811], [39887889, 39887995], [39888188, 39888370], [39888481, 39888646], [39888946, 39889050], [39890417, 39890896]] [[39880952, 39881406], [39882110, 39882149], [39883304, 39883396], [39884452, 39884583], [39887744, 39887811], [39887889, 39887995], [39888188, 39888370], [39888481, 39888646], [39888946, 39889050], [39890417, 39890886]]
ENST00000310778 [[39878891, 39881406], [39882110, 39882149], [39883304, 39883396], [39883549, 39883705], [39884013, 39884088], [39884452, 39884583], [39887744, 39887811], [39887889, 39887995], [39888188, 39888370], [39888481, 39888646], [39888970, 39889050], [39890417, 39890896]] [[39880952, 39881406], [39882110, 39882149], [39883304, 39883396], [39883549, 39883705], [39884013, 39884088], [39884452, 39884583], [39887744, 39887811], [39887889, 39887995], [39888188, 39888370], [39888481, 39888646], [39888970, 39889050], [39890417, 39890886]]
NM_001079870 [[39878890, 39881406], [39882110, 39882149], [39883304, 39883396], [39884452, 39884583], [39887744, 39887811], [39887889, 39887995], [39888188, 39888370], [39888481, 39888646], [39888946, 39889050], [39890417, 39890898]] [[39880952, 39881406], [39882110, 39882149], [39883304, 39883396], [39884452, 39884583], [39887744, 39887811], [39887889, 39887995], [39888188, 39888370], [39888481, 39888646], [39888946, 39889050], [39890417, 39890886]]
NM_177977 [[39878890, 39881406], [39882110, 39882149], [39883304, 39883396], [39884013, 39884088], [39884452, 39884583], [39887744, 39887811], [39887889, 39887995], [39888188, 39888370], [39888481, 39888646], [39888970, 39889050], [39890417, 39890898]] [[39880952, 39881406], [39882110, 39882149], [39883304, 39883396], [39884013, 39884088], [39884452, 39884583], [39887744, 39887811], [39887889, 39887995], [39888188, 39888370], [39888481, 39888646], [39888970, 39889050], [39890417, 39890886]]
NM_001079871 [[39878890, 39881406], [39882110, 39882149], [39883304, 39883396], [39884452, 39884583], [39887744, 39887811], [39887889, 39887995], [39888188, 39888370], [39888481, 39888646], [39888970, 39889050], [39890417, 39890898]] [[39880952, 39881406], [39882110, 39882149], [39883304, 39883396], [39884452, 39884583], [39887744, 39887811], [39887889, 39887995], [39888188, 39888370], [39888481, 39888646], [39888970, 39889050], [39890417, 39890886]]
Promoter
Chrom Start End Description
chr17 39890893 39890898 CAGE_peak_1_at_HAP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I041733 41733372 41735380 1.6 [{'connected_gene': 'HAP1', 'score': 575.32}, {'connected_gene': 'ENSG00000267758', 'score': 28.46}, {'connected_gene': 'STAT5A', 'score': 18.92}, {'connected_gene': 'RETREG3', 'score': 10.69}, {'connected_gene': 'GHDC', 'score': 10.38}, {'connected_gene': 'NAGLU', 'score': 10.16}, {'connected_gene': 'PLEKHH3', 'score': 10.03}, {'connected_gene': 'LOC108783654', 'score': 9.99}, {'connected_gene': 'ZNF385C', 'score': 4.29}, {'connected_gene': 'RN7SL399P', 'score': 0.77}]
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 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 GH17I041673 41672940 41673898 0.95 [{'connected_gene': 'ACLY', 'score': 10.21}, {'connected_gene': 'HAP1', 'score': 5.01}, {'connected_gene': 'EIF1', 'score': 4.76}, {'connected_gene': 'RAB5C', 'score': 2.8}, {'connected_gene': 'NKIRAS2', 'score': 1.96}, {'connected_gene': 'DHX58', 'score': 1.58}, {'connected_gene': 'GC17M041665', 'score': 0.44}]
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 GH17I041647 41647406 41649585 1.37 [{'connected_gene': 'RETREG3', 'score': 12.93}, {'connected_gene': 'DHX58', 'score': 9.9}, {'connected_gene': 'ENSG00000236194', 'score': 6.48}, {'connected_gene': 'HAP1', 'score': 4.91}, {'connected_gene': 'KRT42P', 'score': 0.44}, {'connected_gene': 'ENSG00000278954', '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 GH17I041770 41770060 41771107 0.46 [{'connected_gene': 'NT5C3B', 'score': 5.46}, {'connected_gene': 'JUP', 'score': 0.37}, {'connected_gene': 'HAP1', 'score': 0.28}]
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 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 GH17I041664 41664859 41668475 1.75 [{'connected_gene': 'ENSG00000278954', 'score': 550.77}, {'connected_gene': 'GC17M041665', 'score': 550.77}, {'connected_gene': 'HAP1', 'score': 6.54}, {'connected_gene': 'ZNF385C', 'score': 4.58}]
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 GH17I041674 41674903 41680514 1.74 [{'connected_gene': 'ENSG00000267758', 'score': 42.76}, {'connected_gene': 'RETREG3', 'score': 25.61}, {'connected_gene': 'NKIRAS2', 'score': 25.57}, {'connected_gene': 'DHX58', 'score': 19.89}, {'connected_gene': 'TTC25', 'score': 13.04}, {'connected_gene': 'STAT5A', 'score': 12.09}, {'connected_gene': 'ACLY', 'score': 11.66}, {'connected_gene': 'STAT3', 'score': 10.5}, {'connected_gene': 'CAVIN1', 'score': 10.21}, {'connected_gene': 'LOC108783654', 'score': 9.7}, {'connected_gene': 'EIF1', 'score': 6.32}, {'connected_gene': 'HAP1', 'score': 6.24}, {'connected_gene': 'RAB5C', 'score': 5.96}, {'connected_gene': 'KRT13', 'score': 5.44}, {'connected_gene': 'DNAJC7', 'score': 1.27}, {'connected_gene': 'GC17M041665', '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}]

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