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
ENST00000482825 [[150933058, 150933231], [150935433, 150935620], [150936749, 150937039], [150938637, 150938764], [150938951, 150939105], [150939231, 150939678], [150939867, 150940107]] None
ENST00000561294 [[150936145, 150936951], [150938951, 150939105], [150939231, 150939338], [150939549, 150939678], [150939867, 150939960], [150940139, 150940190], [150940295, 150940353], [150940558, 150940650], [150940870, 150940988], [150941393, 150941588]] [[150936792, 150936951], [150938951, 150939105], [150939231, 150939338], [150939549, 150939678], [150939867, 150939960], [150940139, 150940190], [150940295, 150940353], [150940558, 150940650], [150940870, 150940988], [150941393, 150941566]]
ENST00000560793 [[150937648, 150938764], [150938951, 150939105], [150939231, 150939338], [150939549, 150939678], [150939867, 150939960], [150940139, 150940201]] [[150938623, 150938764], [150938951, 150939105], [150939231, 150939338], [150939549, 150939678], [150939867, 150939960], [150940139, 150940201]]
ENST00000345896 [[150937648, 150938764], [150938951, 150939105], [150939231, 150939338], [150939549, 150939678], [150939867, 150939960], [150940139, 150940190], [150940295, 150940353], [150940558, 150940677], [150940870, 150940988], [150947094, 150947319]] None
ENST00000271688 [[150937648, 150938764], [150938951, 150939105], [150939231, 150939338], [150939549, 150939678], [150939867, 150939960], [150940139, 150940190], [150940295, 150940353], [150940558, 150940677], [150940870, 150940988], [150941393, 150941607], [150947094, 150947440]] [[150938623, 150938764], [150938951, 150939105], [150939231, 150939338], [150939549, 150939678], [150939867, 150939960], [150940139, 150940190], [150940295, 150940353], [150940558, 150940677], [150940870, 150940988], [150941393, 150941566]]
ENST00000368954 [[150937648, 150938764], [150938951, 150939105], [150939231, 150939338], [150939549, 150939678], [150939867, 150939960], [150940139, 150940190], [150940295, 150940353], [150940558, 150940677], [150940870, 150940988], [150941393, 150941567], [150947094, 150947479]] [[150938623, 150938764], [150938951, 150939105], [150939231, 150939338], [150939549, 150939678], [150939867, 150939960], [150940139, 150940190], [150940295, 150940353], [150940558, 150940677], [150940870, 150940988]]
ENST00000460664 [[150938962, 150939105], [150939231, 150939338], [150939549, 150939678], [150939867, 150940190], [150940295, 150940353], [150940558, 150940648]] None
ENST00000368949 [[150939039, 150939105], [150939231, 150939338], [150939549, 150939678], [150939867, 150939960], [150940139, 150940190], [150940295, 150940353], [150940558, 150940677], [150940870, 150940988], [150941393, 150941567], [150944324, 150944411]] [[150939039, 150939105], [150939231, 150939338], [150939549, 150939678], [150939867, 150939960], [150940139, 150940190], [150940295, 150940353], [150940558, 150940677], [150940870, 150940988]]
ENST00000361419 [[150939542, 150939678], [150939867, 150939960], [150940139, 150940190], [150940295, 150940353], [150940558, 150940677], [150940870, 150940988], [150941393, 150941607], [150947094, 150947302]] [[150939542, 150939678], [150939867, 150939960], [150940139, 150940190], [150940295, 150940353], [150940558, 150940677], [150940870, 150940988], [150941393, 150941566]]
ENST00000559660 [[150939606, 150939678], [150939867, 150939960], [150940139, 150940166], [150940558, 150940608]] None
ENST00000558062 [[150939622, 150939678], [150939867, 150939960], [150940139, 150940190], [150940295, 150940353], [150940558, 150940677], [150940870, 150940988], [150941393, 150941794]] [[150939622, 150939678], [150939867, 150939960], [150940139, 150940190], [150940295, 150940353], [150940558, 150940677], [150940870, 150940988], [150941393, 150941566]]
ENST00000559020 [[150939857, 150940190], [150940295, 150940353], [150940558, 150940677], [150940870, 150940954]] None
ENST00000421609 [[150939902, 150939960], [150940139, 150940190], [150940295, 150940353], [150940558, 150940677], [150940870, 150940988], [150941393, 150941567], [150946793, 150946953]] [[150939902, 150939960], [150940139, 150940190], [150940295, 150940353], [150940558, 150940677], [150940870, 150940988]]
ENST00000457392 [[150940582, 150940677], [150940870, 150940988], [150941393, 150941607], [150946793, 150946911]] [[150940582, 150940677], [150940870, 150940988], [150941393, 150941566]]
NM_181746 [[150937648, 150938764], [150938951, 150939105], [150939231, 150939338], [150939549, 150939678], [150939867, 150939960], [150940139, 150940190], [150940295, 150940353], [150940558, 150940677], [150940870, 150940988], [150941393, 150941607], [150947094, 150947479]] [[150938623, 150938764], [150938951, 150939105], [150939231, 150939338], [150939549, 150939678], [150939867, 150939960], [150940139, 150940190], [150940295, 150940353], [150940558, 150940677], [150940870, 150940988], [150941393, 150941566]]
NM_022075 [[150937648, 150938764], [150938951, 150939105], [150939231, 150939338], [150939549, 150939678], [150939867, 150939960], [150940139, 150940190], [150940295, 150940353], [150940558, 150940677], [150940870, 150940988], [150941393, 150941567], [150947094, 150947479]] [[150938623, 150938764], [150938951, 150939105], [150939231, 150939338], [150939549, 150939678], [150939867, 150939960], [150940139, 150940190], [150940295, 150940353], [150940558, 150940677], [150940870, 150940988]]
Promoter
Chrom Start End Description
chr1 150940599 150940628 CAGE_peak_8_at_CERS2_5end
chr1 150944431 150944443 CAGE_peak_23_at_CERS2_5end
chr1 150946912 150946954 CAGE_peak_7_at_CERS2_5end
chr1 150947131 150947191 CAGE_peak_1_at_CERS2_5end
chr1 150947192 150947209 CAGE_peak_5_at_CERS2_5end
chr1 150947281 150947298 CAGE_peak_3_at_CERS2_5end
chr1 150947299 150947328 CAGE_peak_2_at_CERS2_5end
chr1 150947343 150947360 CAGE_peak_4_at_CERS2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I150925 150925001 150927473 2.09 [{'connected_gene': 'SETDB1', 'score': 580.07}, {'connected_gene': 'HORMAD1', 'score': 53.6}, {'connected_gene': 'PRPF3', 'score': 48.51}, {'connected_gene': 'PI4KB', 'score': 37.94}, {'connected_gene': 'GABPB2', 'score': 34.54}, {'connected_gene': 'UBE2D3P3', 'score': 34.39}, {'connected_gene': 'CTSK', 'score': 30.29}, {'connected_gene': 'SF3B4', 'score': 26.53}, {'connected_gene': 'POGZ', 'score': 23.32}, {'connected_gene': 'ZNF687', 'score': 20.4}, {'connected_gene': 'PIP5K1A', 'score': 20.35}, {'connected_gene': 'GOLPH3L', 'score': 19.37}, {'connected_gene': 'APH1A', 'score': 18.69}, {'connected_gene': 'MRPL9', 'score': 18.65}, {'connected_gene': 'ARNT', 'score': 14.97}, {'connected_gene': 'RPRD2', 'score': 13.95}, {'connected_gene': 'LYSMD1', 'score': 12.22}, {'connected_gene': 'CERS2', 'score': 11.17}, {'connected_gene': 'ENSG00000231073', 'score': 11.17}, {'connected_gene': 'MINDY1', 'score': 10.62}, {'connected_gene': 'PRUNE1', 'score': 10.62}, {'connected_gene': 'BNIPL', 'score': 10.33}, {'connected_gene': 'C1orf56', 'score': 10.32}, {'connected_gene': 'RN7SL444P', 'score': 10.17}, {'connected_gene': 'PSMB4', 'score': 10.01}, {'connected_gene': 'ANXA9', 'score': 6.58}, {'connected_gene': 'CYCSP51', 'score': 0.34}]
chr1 GH01I150968 150968178 150969196 0.31 [{'connected_gene': 'HORMAD1', 'score': 46.07}, {'connected_gene': 'ENSG00000231073', 'score': 0.77}, {'connected_gene': 'ENSG00000259357', 'score': 0.77}, {'connected_gene': 'CERS2', 'score': 0.44}]
chr1 GH01I151002 151002366 151003022 0.4 [{'connected_gene': 'CDC42SE1', 'score': 16.68}, {'connected_gene': 'CERS2', 'score': 11.29}, {'connected_gene': 'SEMA6C', 'score': 11.27}, {'connected_gene': 'MLLT11', 'score': 11.17}, {'connected_gene': 'BNIPL', 'score': 11.11}, {'connected_gene': 'C1orf56', 'score': 11.06}, {'connected_gene': 'ENSG00000231073', 'score': 10.99}, {'connected_gene': 'MINDY1', 'score': 0.44}, {'connected_gene': 'ANXA9', 'score': 0.34}]
chr1 GH01I151004 151004823 151010066 2.31 [{'connected_gene': 'MINDY1', 'score': 550.77}, {'connected_gene': 'PRUNE1', 'score': 550.77}, {'connected_gene': 'PI4KB', 'score': 51.22}, {'connected_gene': 'SETDB1', 'score': 48.78}, {'connected_gene': 'PIP5K1A', 'score': 47.74}, {'connected_gene': 'PRPF3', 'score': 47.02}, {'connected_gene': 'GABPB2', 'score': 44.77}, {'connected_gene': 'GOLPH3L', 'score': 40.4}, {'connected_gene': 'CTSK', 'score': 38.79}, {'connected_gene': 'MRPL9', 'score': 37.02}, {'connected_gene': 'UBE2D3P3', 'score': 36.91}, {'connected_gene': 'ARNT', 'score': 32.93}, {'connected_gene': 'RPRD2', 'score': 27.87}, {'connected_gene': 'ZNF687', 'score': 26.14}, {'connected_gene': 'HORMAD1', 'score': 20.37}, {'connected_gene': 'LYSMD1', 'score': 20.22}, {'connected_gene': 'RN7SL444P', 'score': 19.13}, {'connected_gene': 'POGZ', 'score': 11.69}, {'connected_gene': 'CERS2', 'score': 11.02}, {'connected_gene': 'ENSG00000231073', 'score': 11.02}, {'connected_gene': 'BNIPL', 'score': 10.95}, {'connected_gene': 'C1orf56', 'score': 10.9}, {'connected_gene': 'ENSG00000229021', 'score': 10.4}, {'connected_gene': 'RPS10P6', 'score': 9.74}, {'connected_gene': 'TMOD4', 'score': 9.61}, {'connected_gene': 'C1orf54', 'score': 5.41}, {'connected_gene': 'CDC42SE1', 'score': 4.84}, {'connected_gene': 'ANXA9', 'score': 0.31}]
chr1 GH01I150969 150969680 150980234 2.67 [{'connected_gene': 'CERS2', 'score': 551.83}, {'connected_gene': 'ENSG00000231073', 'score': 550.77}, {'connected_gene': 'PRPF3', 'score': 67.11}, {'connected_gene': 'SETDB1', 'score': 61.01}, {'connected_gene': 'ZNF687', 'score': 50.63}, {'connected_gene': 'HORMAD1', 'score': 50.37}, {'connected_gene': 'PIP5K1A', 'score': 49.81}, {'connected_gene': 'ARNT', 'score': 49.07}, {'connected_gene': 'GOLPH3L', 'score': 42.67}, {'connected_gene': 'PI4KB', 'score': 42.63}, {'connected_gene': 'UBE2D3P3', 'score': 39.42}, {'connected_gene': 'GABPB2', 'score': 31.01}, {'connected_gene': 'MRPL9', 'score': 28.65}, {'connected_gene': 'CTSK', 'score': 22.05}, {'connected_gene': 'PSMB4', 'score': 18.2}, {'connected_gene': 'RN7SL444P', 'score': 18.15}, {'connected_gene': 'ANXA9', 'score': 14.93}, {'connected_gene': 'RPS10P6', 'score': 11.8}, {'connected_gene': 'RPRD2', 'score': 10.96}, {'connected_gene': 'MCL1', 'score': 10.18}, {'connected_gene': 'APH1A', 'score': 9.87}, {'connected_gene': 'CDC42SE1', 'score': 8.67}, {'connected_gene': 'CTSS', 'score': 7.94}, {'connected_gene': 'MINDY1', 'score': 5.17}, {'connected_gene': 'LYSMD1', 'score': 4.59}, {'connected_gene': 'TNFAIP8L2', 'score': 4.16}, {'connected_gene': 'RFX5', 'score': 3.08}, {'connected_gene': 'POGZ', 'score': 2.64}, {'connected_gene': 'PRUNE1', 'score': 2.25}, {'connected_gene': 'SELENBP1', 'score': 1.09}, {'connected_gene': 'LOC105371438', 'score': 0.44}]
chr1 GH01I150998 150998771 150999983 1.31 [{'connected_gene': 'RNU6-884P', 'score': 11.71}, {'connected_gene': 'CERS2', 'score': 11.42}, {'connected_gene': 'ENSG00000231073', 'score': 11.4}, {'connected_gene': 'BNIPL', 'score': 11.15}, {'connected_gene': 'C1orf56', 'score': 11.12}, {'connected_gene': 'SCNM1', 'score': 9.75}, {'connected_gene': 'LYSMD1', 'score': 9.74}, {'connected_gene': 'TMOD4', 'score': 9.54}, {'connected_gene': 'MINDY1', 'score': 0.44}, {'connected_gene': 'ANXA9', 'score': 0.37}]
chr1 GH01I151000 151000932 151001658 1 [{'connected_gene': 'RNU6-884P', 'score': 11.71}, {'connected_gene': 'ENSG00000231073', 'score': 11.4}, {'connected_gene': 'CERS2', 'score': 11.4}, {'connected_gene': 'SEMA6C', 'score': 11.23}, {'connected_gene': 'BNIPL', 'score': 11.15}, {'connected_gene': 'C1orf56', 'score': 11.12}, {'connected_gene': 'SCNM1', 'score': 9.75}, {'connected_gene': 'LYSMD1', 'score': 9.74}, {'connected_gene': 'TMOD4', 'score': 9.54}, {'connected_gene': 'MINDY1', 'score': 0.44}, {'connected_gene': 'ANXA9', 'score': 0.37}]
chr1 GH01I150906 150906465 150906614 0.62 [{'connected_gene': 'RPS27AP6', 'score': 12.2}, {'connected_gene': 'ARNT', 'score': 12.17}, {'connected_gene': 'ENSG00000231073', 'score': 10.79}, {'connected_gene': 'CERS2', 'score': 10.79}, {'connected_gene': 'RNU6-1309P', 'score': 10.67}, {'connected_gene': 'CTSK', 'score': 10.67}, {'connected_gene': 'UBE2D3P3', 'score': 10.52}, {'connected_gene': 'HORMAD1', 'score': 10.38}, {'connected_gene': 'BNIPL', 'score': 9.05}, {'connected_gene': 'C1orf56', 'score': 9.04}, {'connected_gene': 'CYCSP51', 'score': 0.77}, {'connected_gene': 'CTXND2', 'score': 0.37}, {'connected_gene': 'SETDB1', 'score': 0.37}]

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