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
ENST00000321562 [[39969182, 39969531], [39973309, 39973455], [39974340, 39974530], [39974633, 39974779], [39975461, 39975651], [39975781, 39975927], [39976520, 39976713], [39977198, 39977341], [39977905, 39978069], [39978474, 39979465]] [[39969286, 39969531], [39973309, 39973455], [39974340, 39974530], [39974633, 39974779], [39975461, 39975651], [39975781, 39975927], [39976520, 39976713], [39977198, 39977341], [39977905, 39978069], [39978474, 39978660]]
ENST00000489591 [[39969240, 39969531], [39974340, 39974530], [39974633, 39974779], [39975461, 39975651], [39975781, 39976301], [39976520, 39976713], [39977198, 39977341], [39977905, 39978069], [39978474, 39979463]] [[39969286, 39969531], [39974340, 39974530], [39974633, 39974642]]
ENST00000455106 [[39975506, 39975651], [39975781, 39975927], [39976092, 39976275], [39976520, 39976713], [39977198, 39977341], [39977905, 39978069], [39978474, 39979465]] [[39975506, 39975651], [39975781, 39975927], [39976092, 39976275], [39976520, 39976713], [39977198, 39977341], [39977905, 39978069], [39978474, 39978660]]
ENST00000544340 [[39975543, 39975651], [39975781, 39975927], [39976092, 39976275], [39976520, 39976713], [39977198, 39977341], [39977905, 39978069], [39978474, 39979463]] [[39975598, 39975651], [39975781, 39975927], [39976092, 39976275], [39976520, 39976713], [39977198, 39977341], [39977905, 39978069], [39978474, 39978660]]
ENST00000490938 [[39976254, 39976713], [39977198, 39977341], [39977905, 39978069], [39978474, 39978545]] None
ENST00000464180 [[39976694, 39977341], [39977905, 39978069], [39978474, 39978792]] None
ENST00000585664 [[39968931, 39968991], [39969444, 39969531], [39973309, 39973455], [39974340, 39974530], [39974633, 39974748]] [[39969466, 39969531], [39973309, 39973455], [39974340, 39974530], [39974633, 39974748]]
ENST00000585922 [[39968946, 39968991], [39969281, 39969531], [39973309, 39973455], [39974340, 39974462]] [[39969286, 39969531], [39973309, 39973455], [39974340, 39974462]]
ENST00000429461 [[39969041, 39969174], [39969444, 39969531], [39973309, 39973455], [39974340, 39974372]] [[39969466, 39969531], [39973309, 39973455], [39974340, 39974372]]
ENST00000487489 [[39975121, 39975651], [39975781, 39975829]] None
NM_021939 [[39968961, 39969531], [39973309, 39973455], [39974340, 39974530], [39974633, 39974779], [39975461, 39975651], [39975781, 39975927], [39976520, 39976713], [39977198, 39977341], [39977905, 39978069], [39978474, 39979469]] [[39969286, 39969531], [39973309, 39973455], [39974340, 39974530], [39974633, 39974779], [39975461, 39975651], [39975781, 39975927], [39976520, 39976713], [39977198, 39977341], [39977905, 39978069], [39978474, 39978660]]
Promoter
Chrom Start End Description
chr17 39968926 39968976 CAGE_peak_2_at_FKBP10_5end
chr17 39969232 39969265 CAGE_peak_1_at_FKBP10_5end
chr17 39969465 39969488 CAGE_peak_3_at_FKBP10_5end
chr17 39975455 39975487 CAGE_peak_5_at_FKBP10_5end
chr17 39975580 39975609 CAGE_peak_4_at_FKBP10_5end
chr17 39975772 39975795 CAGE_peak_6_at_FKBP10_5end
chr17 39975867 39975886 CAGE_peak_12_at_FKBP10_5end
chr17 39978503 39978516 CAGE_peak_16_at_FKBP10_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 GH17I042672 42672991 42684404 2.34 [{'connected_gene': 'CNTNAP1', 'score': 604.71}, {'connected_gene': 'CCR10', 'score': 564.56}, {'connected_gene': 'PLEKHH3', 'score': 561.08}, {'connected_gene': 'ENSG00000267042', 'score': 550.77}, {'connected_gene': 'TUBG2', 'score': 42.87}, {'connected_gene': 'HSD17B1P1', 'score': 29.16}, {'connected_gene': 'ENSG00000267002', 'score': 23.73}, {'connected_gene': 'HMGN1P29', 'score': 23.64}, {'connected_gene': 'HMGN2P15', 'score': 21.54}, {'connected_gene': 'ENSG00000259623', 'score': 21.53}, {'connected_gene': 'DHX8', 'score': 21.5}, {'connected_gene': 'HSD17B1', 'score': 21.18}, {'connected_gene': 'MLX', 'score': 21.09}, {'connected_gene': 'ENSG00000267340', 'score': 20.51}, {'connected_gene': 'NBR2', 'score': 20.27}, {'connected_gene': 'ENSG00000267765', 'score': 19.56}, {'connected_gene': 'LOC108783654', 'score': 18.43}, {'connected_gene': 'NKIRAS2', 'score': 15.46}, {'connected_gene': 'MEOX1', 'score': 14.91}, {'connected_gene': 'ENSG00000267758', 'score': 14.06}, {'connected_gene': 'LINC00910', 'score': 13.17}, {'connected_gene': 'RPL27', 'score': 12.31}, {'connected_gene': 'PSMC3IP', 'score': 11.85}, {'connected_gene': 'TUBG1', 'score': 11.82}, {'connected_gene': 'RETREG3', 'score': 11.82}, {'connected_gene': 'KAT2A', 'score': 11.65}, {'connected_gene': 'CAVIN1', 'score': 11.63}, {'connected_gene': 'GHDC', 'score': 11.46}, {'connected_gene': 'RAMP2', 'score': 11.4}, {'connected_gene': 'RAMP2-AS1', 'score': 11.39}, {'connected_gene': 'VPS25', 'score': 11.37}, {'connected_gene': 'STAT3', 'score': 10.53}, {'connected_gene': 'NAGLU', 'score': 10.26}, {'connected_gene': 'RND2', 'score': 9.97}, {'connected_gene': 'STAT5A', 'score': 9.97}, {'connected_gene': 'FKBP10', 'score': 9.68}, {'connected_gene': 'GC17M042684', 'score': 0.44}]
chr17 GH17I042772 42772434 42776394 2.11 [{'connected_gene': 'VPS25', 'score': 550.77}, {'connected_gene': 'HMGN1P29', 'score': 47.56}, {'connected_gene': 'DHX8', 'score': 46.03}, {'connected_gene': 'ENSG00000267758', 'score': 44.9}, {'connected_gene': 'LINC00910', 'score': 28.34}, {'connected_gene': 'HMGN2P15', 'score': 26.1}, {'connected_gene': 'NBR2', 'score': 18.32}, {'connected_gene': 'NKIRAS2', 'score': 15.45}, {'connected_gene': 'CNTNAP1', 'score': 15.35}, {'connected_gene': 'MEOX1', 'score': 14.91}, {'connected_gene': 'RAMP2-AS1', 'score': 14.41}, {'connected_gene': 'FKBP10', 'score': 13.46}, {'connected_gene': 'CCR10', 'score': 12.96}, {'connected_gene': 'EZH1', 'score': 12.87}, {'connected_gene': 'CNTD1', 'score': 11.88}, {'connected_gene': 'COA3', 'score': 11.88}, {'connected_gene': 'TUBG2', 'score': 11.73}, {'connected_gene': 'ACLY', 'score': 11.62}, {'connected_gene': 'PLEKHH3', 'score': 11.57}, {'connected_gene': 'GHDC', 'score': 11.45}, {'connected_gene': 'ENSG00000267765', 'score': 11.39}, {'connected_gene': 'CAVIN1', 'score': 11.35}, {'connected_gene': 'DHX58', 'score': 11.18}, {'connected_gene': 'RAMP2', 'score': 11.01}, {'connected_gene': 'NT5C3B', 'score': 10.87}, {'connected_gene': 'RETREG3', 'score': 10.63}, {'connected_gene': 'STAT3', 'score': 10.53}, {'connected_gene': 'PSME3', 'score': 10.51}, {'connected_gene': 'NAGLU', 'score': 10.22}, {'connected_gene': 'LOC108783654', 'score': 10.02}, {'connected_gene': 'STAT5A', 'score': 9.96}, {'connected_gene': 'ENSG00000259623', 'score': 9.71}, {'connected_gene': 'AOC4P', 'score': 6.95}, {'connected_gene': 'WNK4', 'score': 0.44}]
chr17 GH17I042285 42285371 42291372 2.37 [{'connected_gene': 'STAT5A', 'score': 557.97}, {'connected_gene': 'FKBP10', 'score': 4.46}, {'connected_gene': 'PIR49037', 'score': 0.39}]
chr17 GH17I042292 42292592 42296639 0.65 [{'connected_gene': 'STAT5A', 'score': 5.78}, {'connected_gene': 'MLX', 'score': 5.55}, {'connected_gene': 'FKBP10', 'score': 4.08}, {'connected_gene': 'PIR49037', 'score': 0.44}]
chr17 GH17I042283 42282935 42284094 0.77 [{'connected_gene': 'FKBP10', 'score': 5.04}, {'connected_gene': 'KRT19', 'score': 4.28}, {'connected_gene': 'STAT5A', 'score': 0.77}, {'connected_gene': 'STAT5B', 'score': 0.44}]
chr17 GH17I042152 42152807 42156217 2.05 [{'connected_gene': 'RAB5C', 'score': 550.77}, {'connected_gene': 'ENSG00000267261', 'score': 550.77}, {'connected_gene': 'LOC105371781', 'score': 550.77}, {'connected_gene': 'PLEKHH3', 'score': 18.93}, {'connected_gene': 'KLHL10', 'score': 15.6}, {'connected_gene': 'KLHL11', 'score': 10.88}, {'connected_gene': 'DHX58', 'score': 10.54}, {'connected_gene': 'KAT2A', 'score': 10.49}, {'connected_gene': 'CNTD1', 'score': 10.27}, {'connected_gene': 'AOC4P', 'score': 7.03}, {'connected_gene': 'NT5C3B', 'score': 5.85}, {'connected_gene': 'FKBP10', 'score': 5.41}]
chr17 GH17I042565 42565732 42569144 2.25 [{'connected_gene': 'MLX', 'score': 550.77}, {'connected_gene': 'CNTNAP1', 'score': 40.86}, {'connected_gene': 'TUBG2', 'score': 36.27}, {'connected_gene': 'CAVIN1', 'score': 13.35}, {'connected_gene': 'FKBP10', 'score': 13.33}, {'connected_gene': 'ENSG00000259623', 'score': 12.29}, {'connected_gene': 'VAT1', 'score': 11.97}, {'connected_gene': 'ENSG00000267765', 'score': 11.35}, {'connected_gene': 'RPL27', 'score': 10.88}, {'connected_gene': 'HSD17B1P1', 'score': 10.22}, {'connected_gene': 'COASY', 'score': 0.44}, {'connected_gene': 'PSMC3IP', 'score': 0.39}]
chr17 GH17I042182 42182911 42185332 1.24 [{'connected_gene': 'HCRT', 'score': 550.77}, {'connected_gene': 'GC17P042182', 'score': 550.77}, {'connected_gene': 'GC17P042183', 'score': 550.77}, {'connected_gene': 'RETREG3', 'score': 14.53}, {'connected_gene': 'HMGN1P29', 'score': 14.52}, {'connected_gene': 'ENSG00000267758', 'score': 12.7}, {'connected_gene': 'ENSG00000267340', 'score': 11.67}, {'connected_gene': 'PLEKHH3', 'score': 10.5}, {'connected_gene': 'NBR2', 'score': 10.45}, {'connected_gene': 'KAT2A', 'score': 10.4}, {'connected_gene': 'PSME3', 'score': 10.32}, {'connected_gene': 'MLX', 'score': 6.95}, {'connected_gene': 'FKBP10', 'score': 5.74}, {'connected_gene': 'DHX58', 'score': 4.24}]
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 GH17I041894 41894303 41897038 1 [{'connected_gene': 'NT5C3B', 'score': 79.28}, {'connected_gene': 'LOC108783654', 'score': 12.55}, {'connected_gene': 'KLHL11', 'score': 11.97}, {'connected_gene': 'KLHL10', 'score': 11.6}, {'connected_gene': 'ENSG00000267758', 'score': 11.0}, {'connected_gene': 'GAST', 'score': 10.75}, {'connected_gene': 'CNP', 'score': 10.68}, {'connected_gene': 'FKBP10', 'score': 6.14}, {'connected_gene': 'GC17M041900', 'score': 0.77}, {'connected_gene': 'PIR36467', 'score': 0.77}, {'connected_gene': 'ENSG00000274630', 'score': 0.31}, {'connected_gene': 'ACLY', 'score': 0.29}]
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 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 GH17I041917 41917153 41920817 2.24 [{'connected_gene': 'GC17P041919', 'score': 550.77}, {'connected_gene': 'ACLY', 'score': 550.39}, {'connected_gene': 'NT5C3B', 'score': 32.75}, {'connected_gene': 'HSD17B1', 'score': 10.19}, {'connected_gene': 'FKBP10', 'score': 6.6}, {'connected_gene': 'ZNF385C', 'score': 5.07}, {'connected_gene': 'GC17M041900', 'score': 0.34}, {'connected_gene': 'PIR36467', 'score': 0.34}]
chr17 GH17I042179 42179821 42181800 1.73 [{'connected_gene': 'GC17P042182', 'score': 550.77}, {'connected_gene': 'KCNH4', 'score': 550.77}, {'connected_gene': 'ENSG00000267758', 'score': 25.45}, {'connected_gene': 'HMGN1P29', 'score': 23.02}, {'connected_gene': 'GHDC', 'score': 11.81}, {'connected_gene': 'NBR2', 'score': 10.23}, {'connected_gene': 'NAGLU', 'score': 10.21}, {'connected_gene': 'STAT5A', 'score': 10.06}, {'connected_gene': 'LOC108783654', 'score': 9.99}, {'connected_gene': 'MLX', 'score': 6.8}, {'connected_gene': 'FKBP10', 'score': 4.12}, {'connected_gene': 'RAB5C', 'score': 0.31}]
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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