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
ENST00000466891 [[151142461, 151142579], [151143395, 151143539], [151144108, 151144239], [151144743, 151144791]] [[151142531, 151142579], [151143395, 151143539], [151144108, 151144239], [151144743, 151144791]]
ENST00000295314 [[151142462, 151142579], [151142994, 151143139], [151143395, 151143539], [151143908, 151144016], [151144108, 151144239], [151144743, 151144833], [151145974, 151146091], [151146866, 151147023], [151147228, 151147393], [151148399, 151148492]] [[151142556, 151142579], [151142994, 151143139], [151143395, 151143539], [151143908, 151144016], [151144108, 151144239], [151144743, 151144833], [151145974, 151146091], [151146866, 151147023], [151147228, 151147351]]
ENST00000416280 [[151142463, 151142579], [151142994, 151143139], [151143395, 151143539], [151143908, 151144016], [151144108, 151144239], [151146866, 151147023], [151147228, 151147393], [151148399, 151148457]] [[151142556, 151142579], [151142994, 151143139], [151143395, 151143539], [151143908, 151144016], [151144108, 151144239], [151146866, 151147023], [151147228, 151147351]]
ENST00000463543 [[151142463, 151142579], [151142994, 151143139], [151143395, 151143535], [151143908, 151144016], [151144108, 151144239], [151144743, 151144833], [151145974, 151146091], [151146866, 151147007], [151147228, 151147393], [151148427, 151148457]] [[151146998, 151147007], [151147228, 151147351]]
ENST00000488488 [[151143908, 151144016], [151144108, 151144239], [151144743, 151144833], [151145974, 151146091], [151146866, 151147007], [151148399, 151148425]] None
ENST00000441701 [[151144804, 151144833], [151145974, 151146091], [151146866, 151147023], [151147228, 151147393], [151148427, 151148452]] [[151144804, 151144833], [151145974, 151146091], [151146866, 151147023], [151147228, 151147351]]
ENST00000601585 [[151148092, 151148760]] None
NM_013353 [[151142462, 151142579], [151142994, 151143139], [151143395, 151143539], [151143908, 151144016], [151144108, 151144239], [151144743, 151144833], [151145974, 151146091], [151146866, 151147023], [151147228, 151147393], [151148399, 151148547]] [[151142556, 151142579], [151142994, 151143139], [151143395, 151143539], [151143908, 151144016], [151144108, 151144239], [151144743, 151144833], [151145974, 151146091], [151146866, 151147023], [151147228, 151147351]]
Promoter
Chrom Start End Description
chr1 151148442 151148469 CAGE_peak_1_at_TMOD4_5end
chr1 151148497 151148512 CAGE_peak_2_at_TMOD4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I150667 150667101 150668768 0.82 [{'connected_gene': 'HORMAD1', 'score': 77.07}, {'connected_gene': 'ARNT', 'score': 23.5}, {'connected_gene': 'RNU6-1042P', 'score': 12.16}, {'connected_gene': 'GOLPH3L', 'score': 12.16}, {'connected_gene': 'ENSA', 'score': 10.51}, {'connected_gene': 'UBE2D3P3', 'score': 10.49}, {'connected_gene': 'CTSK', 'score': 10.49}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 10.47}, {'connected_gene': 'LOC100289061', 'score': 10.46}, {'connected_gene': 'ADAMTSL4', 'score': 10.44}, {'connected_gene': 'RNU6-1309P', 'score': 10.35}, {'connected_gene': 'RPS27AP6', 'score': 10.14}, {'connected_gene': 'BNIPL', 'score': 9.53}, {'connected_gene': 'C1orf56', 'score': 9.53}, {'connected_gene': 'PRUNE1', 'score': 9.44}, {'connected_gene': 'RNU6-884P', 'score': 9.08}, {'connected_gene': 'TMOD4', 'score': 8.68}, {'connected_gene': 'GC01P150630', 'score': 0.28}]
chr1 GH01I151308 151308906 151314966 1.74 [{'connected_gene': 'PIP5K1A', 'score': 17.74}, {'connected_gene': 'PRPF3', 'score': 17.01}, {'connected_gene': 'GABPB2', 'score': 16.5}, {'connected_gene': 'PI4KB', 'score': 15.7}, {'connected_gene': 'MRPL9', 'score': 15.25}, {'connected_gene': 'ZNF687', 'score': 14.49}, {'connected_gene': 'RFX5', 'score': 13.27}, {'connected_gene': 'LOC100507670', 'score': 12.29}, {'connected_gene': 'SETDB1', 'score': 11.71}, {'connected_gene': 'POGZ', 'score': 11.67}, {'connected_gene': 'UBE2D3P3', 'score': 11.67}, {'connected_gene': 'RPRD2', 'score': 11.44}, {'connected_gene': 'ARNT', 'score': 11.25}, {'connected_gene': 'ENSG00000224645', 'score': 11.13}, {'connected_gene': 'GBAT2', 'score': 11.1}, {'connected_gene': 'PSMB4', 'score': 11.01}, {'connected_gene': 'GOLPH3L', 'score': 10.88}, {'connected_gene': 'MINDY1', 'score': 10.85}, {'connected_gene': 'SELENBP1', 'score': 10.67}, {'connected_gene': 'PSMD4', 'score': 10.66}, {'connected_gene': 'CTSK', 'score': 10.43}, {'connected_gene': 'TMOD4', 'score': 9.47}, {'connected_gene': 'PRUNE1', 'score': 9.44}, {'connected_gene': 'THEM4', 'score': 4.18}, {'connected_gene': 'BNIPL', 'score': 4.02}, {'connected_gene': 'CDC42SE1', 'score': 2.92}, {'connected_gene': 'TNFAIP8L2', 'score': 1.39}, {'connected_gene': 'RN7SL444P', 'score': 0.39}]
chr1 GH01I151193 151193772 151201520 2.8 [{'connected_gene': 'PIP5K1A', 'score': 567.8}, {'connected_gene': 'ZNF687', 'score': 32.08}, {'connected_gene': 'LYSMD1', 'score': 21.02}, {'connected_gene': 'ARNT', 'score': 20.88}, {'connected_gene': 'RPRD2', 'score': 19.3}, {'connected_gene': 'PRPF3', 'score': 18.03}, {'connected_gene': 'SETDB1', 'score': 17.41}, {'connected_gene': 'BNIPL', 'score': 15.97}, {'connected_gene': 'PSMD4', 'score': 15.35}, {'connected_gene': 'CTSK', 'score': 14.63}, {'connected_gene': 'PI4KB', 'score': 13.58}, {'connected_gene': 'GABPB2', 'score': 13.33}, {'connected_gene': 'TMOD4', 'score': 13.26}, {'connected_gene': 'GOLPH3L', 'score': 13.15}, {'connected_gene': 'UBE2D3P3', 'score': 13.01}, {'connected_gene': 'SCNM1', 'score': 12.48}, {'connected_gene': 'RPS10P6', 'score': 11.82}, {'connected_gene': 'LOC100507670', 'score': 10.61}, {'connected_gene': 'MRPL9', 'score': 10.32}, {'connected_gene': 'C1orf56', 'score': 9.97}, {'connected_gene': 'PSMB4', 'score': 9.94}, {'connected_gene': 'RN7SL444P', 'score': 9.79}, {'connected_gene': 'POGZ', 'score': 9.77}, {'connected_gene': 'SELENBP1', 'score': 9.57}, {'connected_gene': 'RNU6-884P', 'score': 9.36}, {'connected_gene': 'PRUNE1', 'score': 9.35}, {'connected_gene': 'CTSS', 'score': 6.66}, {'connected_gene': 'HORMAD1', 'score': 4.52}, {'connected_gene': 'TUFT1', 'score': 2.37}, {'connected_gene': 'SNX27', 'score': 1.25}, {'connected_gene': 'MINDY1', 'score': 1.22}, {'connected_gene': 'VPS72', 'score': 0.77}]
chr1 GH01I151099 151099905 151100054 0.66 [{'connected_gene': 'TNFAIP8L2', 'score': 11.89}, {'connected_gene': 'SEMA6C', 'score': 11.34}, {'connected_gene': 'GABPB2', 'score': 11.31}, {'connected_gene': 'MINDY1', 'score': 10.95}, {'connected_gene': 'PRUNE1', 'score': 10.95}, {'connected_gene': 'TMOD4', 'score': 10.92}, {'connected_gene': 'SCNM1', 'score': 10.83}, {'connected_gene': 'LYSMD1', 'score': 10.81}, {'connected_gene': 'VPS72', 'score': 10.69}, {'connected_gene': 'PIP5K1A', 'score': 10.69}, {'connected_gene': 'RNU6-884P', 'score': 10.67}, {'connected_gene': 'C1orf56', 'score': 10.66}, {'connected_gene': 'BNIPL', 'score': 10.64}, {'connected_gene': 'PSMD4', 'score': 10.62}, {'connected_gene': 'RPS29P29', 'score': 0.39}]
chr1 GH01I151188 151188157 151191030 2.1 [{'connected_gene': 'VPS72', 'score': 550.44}, {'connected_gene': 'SETDB1', 'score': 24.05}, {'connected_gene': 'GOLPH3L', 'score': 21.36}, {'connected_gene': 'POGZ', 'score': 16.67}, {'connected_gene': 'PIP5K1A', 'score': 13.23}, {'connected_gene': 'PRPF3', 'score': 12.88}, {'connected_gene': 'MRPL9', 'score': 12.3}, {'connected_gene': 'ARNT', 'score': 11.89}, {'connected_gene': 'RPRD2', 'score': 11.12}, {'connected_gene': 'ZNF687', 'score': 11.09}, {'connected_gene': 'GABPB2', 'score': 10.98}, {'connected_gene': 'PI4KB', 'score': 10.97}, {'connected_gene': 'UBE2D3P3', 'score': 10.85}, {'connected_gene': 'APH1A', 'score': 10.53}, {'connected_gene': 'CTSK', 'score': 10.05}, {'connected_gene': 'PSMD4', 'score': 4.21}, {'connected_gene': 'TMOD4', 'score': 0.39}]
chr1 GH01I151187 151187965 151188114 0.38 [{'connected_gene': 'VPS72', 'score': 0.44}, {'connected_gene': 'TMOD4', 'score': 0.39}]
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 GH01I150668 150668825 150669014 0.46 [{'connected_gene': 'GOLPH3L', 'score': 12.17}, {'connected_gene': 'RNU6-1042P', 'score': 12.16}, {'connected_gene': 'HORMAD1', 'score': 12.09}, {'connected_gene': 'ENSA', 'score': 10.51}, {'connected_gene': 'CTSK', 'score': 10.5}, {'connected_gene': 'UBE2D3P3', 'score': 10.49}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 10.47}, {'connected_gene': 'LOC100289061', 'score': 10.45}, {'connected_gene': 'ADAMTSL4', 'score': 10.44}, {'connected_gene': 'RNU6-1309P', 'score': 10.35}, {'connected_gene': 'ARNT', 'score': 10.14}, {'connected_gene': 'RPS27AP6', 'score': 10.14}, {'connected_gene': 'BNIPL', 'score': 9.53}, {'connected_gene': 'C1orf56', 'score': 9.53}, {'connected_gene': 'PRUNE1', 'score': 9.45}, {'connected_gene': 'RNU6-884P', 'score': 9.08}, {'connected_gene': 'TMOD4', 'score': 8.68}, {'connected_gene': 'GC01P150630', 'score': 0.28}]
chr1 GH01I151174 151174364 151176370 1.1 [{'connected_gene': 'TMOD4', 'score': 550.77}, {'connected_gene': 'GC01M151175', 'score': 550.77}, {'connected_gene': 'LYSMD1', 'score': 0.44}, {'connected_gene': 'VPS72', 'score': 0.37}]
chr1 GH01I151134 151134558 151137286 0.54 [{'connected_gene': 'BNIPL', 'score': 21.63}, {'connected_gene': 'GABPB2', 'score': 16.97}, {'connected_gene': 'SEMA6C', 'score': 13.11}, {'connected_gene': 'TNFAIP8L2', 'score': 11.82}, {'connected_gene': 'TMOD4', 'score': 11.15}, {'connected_gene': 'MINDY1', 'score': 11.0}, {'connected_gene': 'PRUNE1', 'score': 11.0}, {'connected_gene': 'SCNM1', 'score': 10.88}, {'connected_gene': 'LYSMD1', 'score': 10.84}, {'connected_gene': 'RNU6-884P', 'score': 10.66}, {'connected_gene': 'VPS72', 'score': 10.36}, {'connected_gene': 'PIP5K1A', 'score': 10.35}, {'connected_gene': 'PSMD4', 'score': 5.4}, {'connected_gene': 'ENSG00000261168', 'score': 0.77}]
chr1 GH01I151125 151125848 151126821 0.54 [{'connected_gene': 'BNIPL', 'score': 28.66}, {'connected_gene': 'SEMA6C', 'score': 11.44}, {'connected_gene': 'TNFAIP8L2', 'score': 11.01}, {'connected_gene': 'GABPB2', 'score': 10.87}, {'connected_gene': 'C1orf56', 'score': 10.87}, {'connected_gene': 'SCNM1', 'score': 10.54}, {'connected_gene': 'LYSMD1', 'score': 10.52}, {'connected_gene': 'MINDY1', 'score': 10.46}, {'connected_gene': 'PRUNE1', 'score': 10.46}, {'connected_gene': 'TMOD4', 'score': 10.3}, {'connected_gene': 'RNU6-884P', 'score': 10.2}, {'connected_gene': 'VPS72', 'score': 10.19}, {'connected_gene': 'PIP5K1A', 'score': 10.18}, {'connected_gene': 'PSMD4', 'score': 5.35}, {'connected_gene': 'ENSG00000261168', 'score': 0.44}, {'connected_gene': 'RPS29P29', 'score': 0.39}]
chr1 GH01I151171 151171785 151172728 0.49 [{'connected_gene': 'CIART', 'score': 5.14}, {'connected_gene': 'TMOD4', 'score': 0.77}, {'connected_gene': 'GC01M151175', 'score': 0.77}, {'connected_gene': 'LYSMD1', 'score': 0.44}, {'connected_gene': 'VPS72', 'score': 0.34}]
chr1 GH01I151024 151024600 151025294 0.97 [{'connected_gene': 'GABPB2', 'score': 11.14}, {'connected_gene': 'TMOD4', 'score': 9.66}, {'connected_gene': 'CTSK', 'score': 9.63}, {'connected_gene': 'UBE2D3P3', 'score': 9.63}, {'connected_gene': 'RNU6-884P', 'score': 0.77}, {'connected_gene': 'GC01M151024', 'score': 0.77}, {'connected_gene': 'BNIPL', 'score': 0.39}, {'connected_gene': 'PRUNE1', 'score': 0.37}]
chr1 GH01I151904 151904471 151906890 1.4 [{'connected_gene': 'THEM4', 'score': 26.86}, {'connected_gene': 'SETDB1', 'score': 17.65}, {'connected_gene': 'PI4KB', 'score': 16.71}, {'connected_gene': 'MRPL9', 'score': 16.11}, {'connected_gene': 'PIP5K1A', 'score': 15.95}, {'connected_gene': 'GABPB2', 'score': 15.76}, {'connected_gene': 'ZNF687', 'score': 11.29}, {'connected_gene': 'ENSG00000229021', 'score': 11.04}, {'connected_gene': 'S100A10', 'score': 11.04}, {'connected_gene': 'POGZ', 'score': 10.84}, {'connected_gene': 'THEM5', 'score': 10.31}, {'connected_gene': 'TMOD4', 'score': 4.43}, {'connected_gene': 'PIR59936', 'score': 0.39}]
chr1 GH01I151919 151919758 151922726 1.01 [{'connected_gene': 'THEM4', 'score': 21.62}, {'connected_gene': 'ENSG00000229021', 'score': 11.43}, {'connected_gene': 'S100A10', 'score': 11.43}, {'connected_gene': 'THEM5', 'score': 10.11}, {'connected_gene': 'C2CD4D', 'score': 9.97}, {'connected_gene': 'ENSG00000201134', 'score': 9.97}, {'connected_gene': 'LOC100132111', 'score': 9.96}, {'connected_gene': 'C1orf56', 'score': 4.76}, {'connected_gene': 'TMOD4', 'score': 4.42}, {'connected_gene': 'GC01M151949', 'score': 0.31}]
chr1 GH01I150557 150557761 150580847 2.55 [{'connected_gene': 'RN7SL600P', 'score': 550.77}, {'connected_gene': 'MCL1', 'score': 550.39}, {'connected_gene': 'GOLPH3L', 'score': 56.07}, {'connected_gene': 'SETDB1', 'score': 54.87}, {'connected_gene': 'HORMAD1', 'score': 48.86}, {'connected_gene': 'PRPF3', 'score': 40.26}, {'connected_gene': 'PIP5K1A', 'score': 38.63}, {'connected_gene': 'PI4KB', 'score': 36.68}, {'connected_gene': 'SF3B4', 'score': 34.98}, {'connected_gene': 'ARNT', 'score': 33.02}, {'connected_gene': 'CTSK', 'score': 31.16}, {'connected_gene': 'ZNF687', 'score': 28.43}, {'connected_gene': 'GABPB2', 'score': 24.42}, {'connected_gene': 'UBE2D3P3', 'score': 24.14}, {'connected_gene': 'APH1A', 'score': 18.72}, {'connected_gene': 'C1orf56', 'score': 15.71}, {'connected_gene': 'RPRD2', 'score': 14.76}, {'connected_gene': 'VPS45', 'score': 13.42}, {'connected_gene': 'ENSA', 'score': 12.18}, {'connected_gene': 'CTSS', 'score': 11.31}, {'connected_gene': 'ADAMTSL4', 'score': 11.16}, {'connected_gene': 'HIST2H2AB', 'score': 10.76}, {'connected_gene': 'HIST2H2BD', 'score': 10.45}, {'connected_gene': 'RN7SL444P', 'score': 10.15}, {'connected_gene': 'PSMB4', 'score': 9.99}, {'connected_gene': 'SV2A', 'score': 9.8}, {'connected_gene': 'PRUNE1', 'score': 9.75}, {'connected_gene': 'C1orf54', 'score': 6.87}, {'connected_gene': 'ECM1', 'score': 6.49}, {'connected_gene': 'BNIPL', 'score': 6.19}, {'connected_gene': 'POGZ', 'score': 5.2}, {'connected_gene': 'LOC100289061', 'score': 5.13}, {'connected_gene': 'RFX5', 'score': 4.78}, {'connected_gene': 'TMOD4', 'score': 4.73}, {'connected_gene': 'GC01M150567', 'score': 0.77}, {'connected_gene': 'RN7SL473P', 'score': 0.77}, {'connected_gene': 'PIR41510', 'score': 0.44}, {'connected_gene': 'PIR48145', 'score': 0.44}, {'connected_gene': 'GC01M150578', 'score': 0.44}, {'connected_gene': 'GC01M150586', 'score': 0.44}, {'connected_gene': 'ADAMTSL4-AS1', '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 GH01I151142 151142149 151148268 2.18 [{'connected_gene': 'SEMA6C', 'score': 567.26}, {'connected_gene': 'BNIPL', 'score': 32.25}, {'connected_gene': 'GABPB2', 'score': 20.0}, {'connected_gene': 'PRUNE1', 'score': 10.99}, {'connected_gene': 'TMOD4', 'score': 10.97}, {'connected_gene': 'VPS72', 'score': 10.79}, {'connected_gene': 'PIP5K1A', 'score': 10.79}, {'connected_gene': 'RNU6-884P', 'score': 10.78}, {'connected_gene': 'LYSMD1', 'score': 10.77}, {'connected_gene': 'C1orf56', 'score': 10.44}, {'connected_gene': 'TUFT1', 'score': 5.98}, {'connected_gene': 'PSMD4', 'score': 5.45}, {'connected_gene': 'ENSG00000261168', 'score': 0.39}]

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