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
ENST00000369016 [[150573326, 150573755], [150598117, 150598284], [150598954, 150599002], [150599942, 150600068], [150601889, 150602042]] [[150573589, 150573755], [150598117, 150598284], [150598954, 150599002], [150599942, 150600068], [150601889, 150601946]]
ENST00000369014 [[150593726, 150595335], [150598117, 150598284], [150599942, 150600068], [150601889, 150602072]] [[150595319, 150595335], [150598117, 150598284], [150599942, 150600068], [150601889, 150601946]]
ENST00000369009 [[150594603, 150595335], [150598117, 150598284], [150599873, 150600068], [150601889, 150602072]] [[150595319, 150595335], [150598117, 150598284], [150599873, 150600068], [150601889, 150601946]]
ENST00000509582 [[150595204, 150595335], [150598117, 150598284], [150598954, 150599002], [150599787, 150600068], [150601889, 150601978]] [[150599807, 150600068], [150601889, 150601946]]
ENST00000339643 [[150595206, 150595335], [150598117, 150598284], [150598954, 150599002], [150599942, 150600068], [150601889, 150602052]] [[150595319, 150595335], [150598117, 150598284], [150598954, 150599002], [150599942, 150600068], [150601889, 150601946]]
ENST00000271690 [[150595756, 150598284], [150599942, 150600068], [150601889, 150602053]] [[150598113, 150598284], [150599942, 150600068], [150601889, 150601946]]
ENST00000356527 [[150596097, 150598284], [150599873, 150600068], [150601889, 150602053]] [[150598113, 150598284], [150599873, 150600068], [150601889, 150601946]]
ENST00000505321 [[150597675, 150598164], [150602025, 150602088]] None
ENST00000503345 [[150597940, 150598284], [150599787, 150600068], [150601889, 150602057]] [[150599807, 150600068], [150601889, 150601946]]
ENST00000503241 [[150598030, 150598284], [150598954, 150599002], [150599942, 150600068], [150601889, 150602035]] [[150598113, 150598284], [150598954, 150599002], [150599942, 150600068], [150601889, 150601946]]
ENST00000362052 [[150599529, 150600068], [150601889, 150602053]] [[150599807, 150600068], [150601889, 150601946]]
ENST00000361532 [[150594916, 150595335], [150598117, 150598284], [150599942, 150600068], [150601536, 150601616]] [[150595319, 150595335], [150598117, 150598284], [150599942, 150600068], [150601536, 150601581]]
ENST00000361631 [[150595019, 150595335], [150598117, 150598284], [150598954, 150599002], [150599942, 150600068], [150601536, 150601604]] [[150595319, 150595335], [150598117, 150598284], [150598954, 150599002], [150599942, 150600068], [150601536, 150601581]]
ENST00000513281 [[150597097, 150598284], [150599942, 150600068], [150601536, 150601592]] [[150598113, 150598284], [150599942, 150600068], [150601536, 150601581]]
ENST00000354702 [[150597981, 150598284], [150599942, 150600068], [150601475, 150601615]] None
NM_207042 [[150594598, 150595335], [150598117, 150598284], [150598954, 150599002], [150599942, 150600068], [150601889, 150602098]] [[150595319, 150595335], [150598117, 150598284], [150598954, 150599002], [150599942, 150600068], [150601889, 150601946]]
NM_004436 [[150594598, 150595335], [150598117, 150598284], [150599942, 150600068], [150601889, 150602098]] [[150595319, 150595335], [150598117, 150598284], [150599942, 150600068], [150601889, 150601946]]
NM_207043 [[150595753, 150598284], [150598954, 150599002], [150599942, 150600068], [150601889, 150602098]] [[150598113, 150598284], [150598954, 150599002], [150599942, 150600068], [150601889, 150601946]]
NM_207044 [[150595753, 150598284], [150599942, 150600068], [150601889, 150602098]] [[150598113, 150598284], [150599942, 150600068], [150601889, 150601946]]
NM_207168 [[150599521, 150600068], [150601889, 150602098]] [[150599807, 150600068], [150601889, 150601946]]
NM_207045 [[150594598, 150595335], [150598117, 150598284], [150598954, 150599002], [150599942, 150600068], [150601536, 150601609]] [[150595319, 150595335], [150598117, 150598284], [150598954, 150599002], [150599942, 150600068], [150601536, 150601581]]
NM_207046 [[150594598, 150595335], [150598117, 150598284], [150599942, 150600068], [150601536, 150601609]] [[150595319, 150595335], [150598117, 150598284], [150599942, 150600068], [150601536, 150601581]]
NM_207047 [[150595753, 150598284], [150599942, 150600068], [150601536, 150601609]] [[150598113, 150598284], [150599942, 150600068], [150601536, 150601581]]
Promoter
Chrom Start End Description
chr1 150601588 150601631 CAGE_peak_2_at_ENSA_5end
chr1 150601634 150601645 CAGE_peak_3_at_ENSA_5end
chr1 150602046 150602095 CAGE_peak_1_at_ENSA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I150602 150602878 150606941 1.82 [{'connected_gene': 'HORMAD1', 'score': 24.46}, {'connected_gene': 'PRPF3', 'score': 22.48}, {'connected_gene': 'MCL1', 'score': 13.04}, {'connected_gene': 'CTSS', 'score': 7.73}, {'connected_gene': 'PLEKHO1', 'score': 7.3}, {'connected_gene': 'MLLT11', 'score': 4.35}, {'connected_gene': 'CDC42SE1', 'score': 2.8}, {'connected_gene': 'MINDY1', 'score': 1.37}, {'connected_gene': 'ENSG00000253047', 'score': 0.77}, {'connected_gene': 'ENSG00000276103', 'score': 0.77}, {'connected_gene': 'ENSA', 'score': 0.34}]
chr1 GH01I150649 150649230 150650785 0.74 [{'connected_gene': 'HORMAD1', 'score': 77.69}, {'connected_gene': 'GOLPH3L', 'score': 11.55}, {'connected_gene': 'RNU6-1042P', 'score': 11.53}, {'connected_gene': 'ENSA', 'score': 11.24}, {'connected_gene': 'CTSK', 'score': 10.68}, {'connected_gene': 'ARNT', 'score': 10.51}, {'connected_gene': 'RPS27AP6', 'score': 10.51}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 10.45}, {'connected_gene': 'LOC100289061', 'score': 10.43}, {'connected_gene': 'ADAMTSL4', 'score': 10.42}, {'connected_gene': 'UBE2D3P3', 'score': 10.31}, {'connected_gene': 'GC01P150630', 'score': 0.34}]
chr1 GH01I150609 150609002 150616482 1.83 [{'connected_gene': 'HORMAD1', 'score': 49.09}, {'connected_gene': 'MCL1', 'score': 33.69}, {'connected_gene': 'PRPF3', 'score': 24.61}, {'connected_gene': 'ARNT', 'score': 23.3}, {'connected_gene': 'GOLPH3L', 'score': 22.43}, {'connected_gene': 'CTSS', 'score': 20.84}, {'connected_gene': 'GABPB2', 'score': 16.48}, {'connected_gene': 'PI4KB', 'score': 14.26}, {'connected_gene': 'PIP5K1A', 'score': 11.91}, {'connected_gene': 'UBE2D3P3', 'score': 11.72}, {'connected_gene': 'SETDB1', 'score': 11.71}, {'connected_gene': 'CDC42SE1', 'score': 11.64}, {'connected_gene': 'POGZ', 'score': 11.59}, {'connected_gene': 'RPRD2', 'score': 11.48}, {'connected_gene': 'CTSK', 'score': 10.48}, {'connected_gene': 'PLEKHO1', 'score': 7.03}, {'connected_gene': 'C1orf54', 'score': 5.78}, {'connected_gene': 'MINDY1', 'score': 3.36}, {'connected_gene': 'ANP32E', 'score': 2.27}, {'connected_gene': 'ENSG00000276103', 'score': 0.77}, {'connected_gene': 'ENSA', 'score': 0.37}]
chr1 GH01I150618 150618944 150626492 1.75 [{'connected_gene': 'HORMAD1', 'score': 25.54}, {'connected_gene': 'MCL1', 'score': 15.3}, {'connected_gene': 'GOLPH3L', 'score': 13.71}, {'connected_gene': 'ARNT', 'score': 13.06}, {'connected_gene': 'CTSS', 'score': 6.91}, {'connected_gene': 'C1orf54', 'score': 6.85}, {'connected_gene': 'PRPF3', 'score': 4.84}, {'connected_gene': 'PLEKHO1', 'score': 4.66}, {'connected_gene': 'CDC42SE1', 'score': 3.49}, {'connected_gene': 'MINDY1', 'score': 2.25}, {'connected_gene': 'ANP32E', 'score': 1.46}, {'connected_gene': 'ENSA', 'score': 0.44}, {'connected_gene': 'ENSG00000276103', 'score': 0.39}]
chr1 GH01I150660 150660675 150662264 0.31 [{'connected_gene': 'HORMAD1', 'score': 77.52}, {'connected_gene': 'ARNT', 'score': 23.82}, {'connected_gene': 'GOLPH3L', 'score': 11.38}, {'connected_gene': 'RNU6-1042P', 'score': 11.37}, {'connected_gene': 'ENSA', 'score': 10.98}, {'connected_gene': 'RPS27AP6', 'score': 10.2}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 10.1}, {'connected_gene': 'LOC100289061', 'score': 10.08}, {'connected_gene': 'ADAMTSL4', 'score': 10.06}, {'connected_gene': 'UBE2D3P3', 'score': 9.88}, {'connected_gene': 'CTSK', 'score': 9.87}, {'connected_gene': 'MINDY1', 'score': 9.86}, {'connected_gene': 'PRUNE1', 'score': 9.86}, {'connected_gene': 'RNU6-884P', 'score': 9.28}, {'connected_gene': 'CA14', 'score': 9.09}, {'connected_gene': 'GC01P150630', 'score': 0.29}]
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 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 GH01I150595 150595905 150597253 0.83 [{'connected_gene': 'ENSA', 'score': 12.63}, {'connected_gene': 'RPS27AP6', 'score': 10.24}, {'connected_gene': 'ARNT', 'score': 10.24}, {'connected_gene': 'ENSG00000253047', 'score': 0.77}, {'connected_gene': 'MCL1', 'score': 0.37}]
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 GH01I150626 150626916 150631826 2.58 [{'connected_gene': 'GC01P150630', 'score': 550.77}, {'connected_gene': 'ENSA', 'score': 550.77}, {'connected_gene': 'SETDB1', 'score': 58.5}, {'connected_gene': 'PIP5K1A', 'score': 50.75}, {'connected_gene': 'HORMAD1', 'score': 49.33}, {'connected_gene': 'ARNT', 'score': 39.58}, {'connected_gene': 'PRPF3', 'score': 39.38}, {'connected_gene': 'RPRD2', 'score': 36.62}, {'connected_gene': 'UBE2D3P3', 'score': 36.49}, {'connected_gene': 'SF3B4', 'score': 30.36}, {'connected_gene': 'GABPB2', 'score': 29.76}, {'connected_gene': 'PI4KB', 'score': 29.2}, {'connected_gene': 'ZNF687', 'score': 29.09}, {'connected_gene': 'POGZ', 'score': 24.41}, {'connected_gene': 'GOLPH3L', 'score': 23.29}, {'connected_gene': 'LYSMD1', 'score': 22.35}, {'connected_gene': 'CTSK', 'score': 22.34}, {'connected_gene': 'RPS10P6', 'score': 20.02}, {'connected_gene': 'RN7SL444P', 'score': 18.22}, {'connected_gene': 'MCL1', 'score': 15.03}, {'connected_gene': 'ADAMTSL4', 'score': 14.26}, {'connected_gene': 'VPS45', 'score': 13.76}, {'connected_gene': 'C1orf56', 'score': 13.34}, {'connected_gene': 'HIST2H2AB', 'score': 11.0}, {'connected_gene': 'HIST2H2BD', 'score': 10.23}, {'connected_gene': 'RNU6-1309P', 'score': 10.22}, {'connected_gene': 'PSMB4', 'score': 9.88}, {'connected_gene': 'PRUNE1', 'score': 9.75}, {'connected_gene': 'BNIPL', 'score': 7.48}, {'connected_gene': 'CTSS', 'score': 4.05}, {'connected_gene': 'CDC42SE1', 'score': 3.81}, {'connected_gene': 'PLEKHO1', 'score': 2.86}, {'connected_gene': 'MINDY1', 'score': 1.76}, {'connected_gene': 'ANP32E', 'score': 1.1}, {'connected_gene': 'ENSG00000276103', 'score': 0.34}]
chr1 GH01I150601 150601001 150601200 0.72 [{'connected_gene': 'ENSG00000253047', 'score': 550.77}, {'connected_gene': 'ENSG00000276103', 'score': 0.44}, {'connected_gene': 'ENSA', 'score': 0.31}]

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