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
ENST00000377424 [[9095165, 9097848], [9097955, 9098083], [9098489, 9098565], [9098886, 9098988], [9099610, 9099721], [9099858, 9100046], [9100122, 9100248], [9101843, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129775]] [[9097644, 9097848], [9097955, 9098083], [9098489, 9098565], [9098886, 9098988], [9099610, 9099721], [9099858, 9100046], [9100122, 9100248], [9101843, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129595]]
ENST00000536305 [[9097172, 9097848], [9097955, 9098083], [9098489, 9098565], [9098886, 9098988], [9099610, 9099721], [9099858, 9100046], [9100122, 9100248], [9101843, 9101996], [9107668, 9107793], [9109158, 9109319]] [[9097644, 9097848], [9097955, 9098083], [9098489, 9098565], [9098886, 9098988], [9099610, 9099721], [9099858, 9100046], [9100122, 9100248], [9101843, 9101996], [9107668, 9107793], [9109158, 9109274]]
ENST00000535586 [[9097456, 9097848], [9097955, 9098083], [9098489, 9098565], [9098886, 9098988], [9099610, 9099721], [9099858, 9100046], [9100122, 9100248], [9101843, 9101996], [9107668, 9107793], [9129562, 9129604]] [[9097644, 9097848], [9097955, 9098083], [9098489, 9098565], [9098886, 9098988], [9099610, 9099721], [9099858, 9100046], [9100122, 9100248], [9101843, 9101996], [9107668, 9107741]]
ENST00000487492 [[9098489, 9098565], [9098886, 9098988], [9099610, 9099954]] None
ENST00000377414 [[9100138, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129663]] [[9101679, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129595]]
ENST00000484798 [[9101843, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129653], [9131731, 9131786]] [[9101843, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129595]]
ENST00000474145 [[9101843, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129653], [9132107, 9132324]] [[9101843, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129595]]
ENST00000479813 [[9101843, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129653], [9132362, 9132444], [9133134, 9133181]] [[9101843, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129595]]
ENST00000486632 [[9101843, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129653], [9145072, 9145225], [9148430, 9148537]] [[9101843, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129595]]
ENST00000487835 [[9101916, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129653], [9145072, 9145185], [9148430, 9148516]] [[9101916, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129595]]
ENST00000464985 [[9107669, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129653], [9145072, 9145201], [9148430, 9148502]] [[9107669, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129595]]
ENST00000473209 [[9117556, 9117667], [9118210, 9118309], [9129562, 9129653], [9129756, 9129910]] [[9117556, 9117667], [9118210, 9118309], [9129562, 9129595]]
NM_003039 [[9097004, 9097848], [9097955, 9098083], [9098489, 9098565], [9098886, 9098988], [9099610, 9099721], [9099858, 9100046], [9100122, 9100248], [9101843, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129887]] [[9097644, 9097848], [9097955, 9098083], [9098489, 9098565], [9098886, 9098988], [9099610, 9099721], [9099858, 9100046], [9100122, 9100248], [9101843, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129595]]
NM_001328620 [[9097004, 9097848], [9097955, 9098083], [9098489, 9098565], [9098886, 9098988], [9099610, 9099721], [9099858, 9100046], [9100122, 9100248], [9101843, 9101996], [9107668, 9107793], [9117506, 9117629], [9118210, 9118309], [9129562, 9129887]] [[9097644, 9097848], [9097955, 9098083], [9098489, 9098565], [9098886, 9098988], [9099610, 9099721], [9099858, 9100046], [9100122, 9100248], [9101843, 9101996], [9107668, 9107793], [9117506, 9117629], [9118210, 9118248]]
NM_001328621 [[9097004, 9097848], [9097955, 9098083], [9098489, 9098565], [9098886, 9098988], [9099610, 9099721], [9099858, 9100046], [9100122, 9100248], [9101843, 9101996], [9129562, 9129887]] [[9097644, 9097848], [9097955, 9098083], [9098489, 9098565], [9098886, 9098988], [9099610, 9099721], [9099858, 9100046], [9100122, 9100248], [9101843, 9101973]]
NM_001328619 [[9097004, 9097848], [9097955, 9098083], [9098489, 9098565], [9098886, 9098988], [9099610, 9099721], [9099858, 9100046], [9100122, 9100248], [9101843, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129653], [9132107, 9132286]] [[9097644, 9097848], [9097955, 9098083], [9098489, 9098565], [9098886, 9098988], [9099610, 9099721], [9099858, 9100046], [9100122, 9100248], [9101843, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129595]]
NM_001135585 [[9101426, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129887]] [[9101679, 9101996], [9107668, 9107793], [9117506, 9117667], [9118210, 9118309], [9129562, 9129595]]
Promoter
Chrom Start End Description
chr1 9129347 9129370 CAGE_peak_11_at_SLC2A5_5end
chr1 9129598 9129610 CAGE_peak_3_at_SLC2A5_5end
chr1 9129614 9129619 CAGE_peak_6_at_SLC2A5_5end
chr1 9129631 9129664 CAGE_peak_2_at_SLC2A5_5end
chr1 9129670 9129719 CAGE_peak_1_at_SLC2A5_5end
chr1 9129735 9129762 CAGE_peak_4_at_SLC2A5_5end
chr1 9129853 9129865 CAGE_peak_18_at_SLC2A5_5end
chr1 9129895 9129902 CAGE_peak_19_at_SLC2A5_5end
chr1 9131776 9131791 CAGE_peak_14_at_SLC2A5_5end
chr1 9132275 9132280 CAGE_peak_20_at_SLC2A5_5end
chr1 9132290 9132310 CAGE_peak_8_at_SLC2A5_5end
chr1 9132311 9132325 CAGE_peak_9_at_SLC2A5_5end
chr1 9132333 9132335 CAGE_peak_30_at_SLC2A5_5end
chr1 9148495 9148517 CAGE_peak_5_at_SLC2A5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I009232 9232812 9236150 2.51 [{'connected_gene': 'H6PD', 'score': 569.94}, {'connected_gene': 'GC01M009234', 'score': 550.77}, {'connected_gene': 'GPR157', 'score': 11.32}, {'connected_gene': 'SLC2A5', 'score': 7.34}, {'connected_gene': 'GC01P009203', 'score': 0.29}]
chr1 GH01I009278 9278402 9282232 1.2 [{'connected_gene': 'SPSB1', 'score': 6.92}, {'connected_gene': 'SLC2A5', 'score': 5.68}, {'connected_gene': 'H6PD', 'score': 5.27}, {'connected_gene': 'PIK3CD', 'score': 5.01}, {'connected_gene': 'PIR55180', 'score': 0.39}]
chr1 GH01I009153 9153596 9154970 0.31 [{'connected_gene': 'GPR157', 'score': 12.17}, {'connected_gene': 'H6PD', 'score': 10.96}, {'connected_gene': 'SLC2A5', 'score': 9.53}, {'connected_gene': 'MIR34A', 'score': 0.77}, {'connected_gene': 'GC01P009164', 'score': 0.44}, {'connected_gene': 'MIR34AHG', 'score': 0.26}]
chr1 GH01I009084 9084721 9086444 0.58 [{'connected_gene': 'GPR157', 'score': 19.87}, {'connected_gene': 'SLC2A5', 'score': 0.77}, {'connected_gene': 'ENSG00000252404', 'score': 0.77}]
chr1 GH01I009092 9092989 9094400 0.56 [{'connected_gene': 'GPR157', 'score': 19.76}, {'connected_gene': 'SLC2A5', 'score': 6.07}, {'connected_gene': 'PIR42185', 'score': 0.29}]
chr1 GH01I009127 9127068 9130490 2.17 [{'connected_gene': 'GPR157', 'score': 556.33}, {'connected_gene': 'PIR37771', 'score': 550.77}, {'connected_gene': 'SLC2A5', 'score': 6.01}]
chr1 GH01I009101 9101662 9101811 0.65 [{'connected_gene': 'GPR157', 'score': 12.36}, {'connected_gene': 'MIR34A', 'score': 11.4}, {'connected_gene': 'SLC2A5', 'score': 0.39}, {'connected_gene': 'PIR42185', 'score': 0.34}]
chr1 GH01I009145 9145037 9145846 0.95 [{'connected_gene': 'SLC2A5', 'score': 11.62}, {'connected_gene': 'GPR157', 'score': 9.02}, {'connected_gene': 'MIR34A', 'score': 0.44}]
chr1 GH01I009077 9077722 9081532 1.08 [{'connected_gene': 'SLC2A5', 'score': 13.24}, {'connected_gene': 'GPR157', 'score': 6.55}, {'connected_gene': 'GC01P009083', 'score': 0.77}, {'connected_gene': 'PIR51806', 'score': 0.26}]
chr1 GH01I009110 9110362 9116124 1.21 [{'connected_gene': 'SLC2A5', 'score': 10.23}, {'connected_gene': 'GPR157', 'score': 8.6}, {'connected_gene': 'PIR42185', 'score': 0.39}]
chr1 GH01I009066 9066268 9070646 1.9 [{'connected_gene': 'SLC2A5', 'score': 579.51}, {'connected_gene': 'SLC2A7', 'score': 11.92}, {'connected_gene': 'RNU6-304P', 'score': 10.71}, {'connected_gene': 'GC01P009083', 'score': 0.39}, {'connected_gene': 'PIR51806', 'score': 0.29}]
chr1 GH01I009064 9064078 9065749 0.72 [{'connected_gene': 'SLC2A5', 'score': 12.98}, {'connected_gene': 'SLC2A7', 'score': 11.93}, {'connected_gene': 'RNU6-304P', 'score': 10.71}, {'connected_gene': 'GC01P009083', 'score': 0.37}, {'connected_gene': 'PIR51806', 'score': 0.31}]
chr1 GH01I009169 9169461 9170146 0.2 [{'connected_gene': 'SLC2A5', 'score': 10.87}, {'connected_gene': 'GC01M009171', 'score': 0.77}, {'connected_gene': 'GC01M009163', 'score': 0.44}, {'connected_gene': 'MIR34AHG', 'score': 0.31}]
chr1 GH01I009168 9168586 9169409 0.2 [{'connected_gene': 'SLC2A5', 'score': 7.57}, {'connected_gene': 'LINC01759', 'score': 5.3}, {'connected_gene': 'GC01M009171', 'score': 0.77}, {'connected_gene': 'GC01M009163', 'score': 0.44}, {'connected_gene': 'MIR34AHG', 'score': 0.31}]
chr1 GH01I009061 9061499 9063321 0.72 [{'connected_gene': 'SLC2A5', 'score': 28.99}, {'connected_gene': 'GC01P009083', 'score': 0.34}, {'connected_gene': 'PIR51806', 'score': 0.31}]
chr1 GH01I009149 9149496 9152259 1.09 [{'connected_gene': 'MIR34A', 'score': 550.77}, {'connected_gene': 'SLC2A5', 'score': 8.26}, {'connected_gene': 'GPR157', 'score': 7.46}, {'connected_gene': 'MIR34AHG', 'score': 0.25}]
chr1 GH01I009121 9121900 9122755 0.89 [{'connected_gene': 'MIR34A', 'score': 11.79}, {'connected_gene': 'RNU6-304P', 'score': 9.36}, {'connected_gene': 'GPR157', 'score': 7.38}, {'connected_gene': 'SLC2A5', 'score': 5.2}, {'connected_gene': 'PIR42185', 'score': 0.77}]
chr1 GH01I009119 9119781 9119991 0.98 [{'connected_gene': 'MIR34A', 'score': 11.78}, {'connected_gene': 'RNU6-304P', 'score': 9.36}, {'connected_gene': 'PIR42185', 'score': 0.44}, {'connected_gene': 'GPR157', 'score': 0.44}, {'connected_gene': 'SLC2A5', 'score': 0.29}]
chr1 GH01I009117 9117803 9118877 0.2 [{'connected_gene': 'MIR34A', 'score': 11.78}, {'connected_gene': 'RNU6-304P', 'score': 9.36}, {'connected_gene': 'PIR42185', 'score': 0.44}, {'connected_gene': 'GPR157', 'score': 0.39}, {'connected_gene': 'SLC2A5', 'score': 0.31}]
chr1 GH01I009051 9051019 9051045 0.33 [{'connected_gene': 'SLC2A7', 'score': 13.39}, {'connected_gene': 'SLC2A5', 'score': 12.47}, {'connected_gene': 'GPR157', 'score': 10.75}, {'connected_gene': 'MIR34A', 'score': 10.73}, {'connected_gene': 'RNU6-304P', 'score': 10.61}, {'connected_gene': 'RERE', 'score': 1.65}, {'connected_gene': 'PIR51806', 'score': 0.37}, {'connected_gene': 'GC01P009083', 'score': 0.29}]
chr1 GH01I009005 9005001 9005594 0.98 [{'connected_gene': 'SLC2A7', 'score': 13.37}, {'connected_gene': 'SLC2A5', 'score': 12.17}, {'connected_gene': 'RNU6-304P', 'score': 10.86}, {'connected_gene': 'MIR34A', 'score': 10.19}, {'connected_gene': 'GC01M008979', 'score': 0.31}, {'connected_gene': 'RN7SL451P', 'score': 0.31}]
chr1 GH01I009021 9021416 9027671 0.96 [{'connected_gene': 'SLC2A7', 'score': 558.06}, {'connected_gene': 'SLC2A5', 'score': 10.36}, {'connected_gene': 'GC01M008979', 'score': 0.26}, {'connected_gene': 'RN7SL451P', 'score': 0.26}]
chr1 GH01I009074 9074252 9076963 1.04 [{'connected_gene': 'SLC2A7', 'score': 11.9}, {'connected_gene': 'RNU6-304P', 'score': 10.71}, {'connected_gene': 'SLC2A5', 'score': 9.24}, {'connected_gene': 'GPR157', 'score': 6.52}, {'connected_gene': 'GC01P009083', 'score': 0.44}, {'connected_gene': 'PIR51806', 'score': 0.28}]
chr1 GH01I009180 9179685 9184077 1.68 [{'connected_gene': 'LINC01759', 'score': 550.77}, {'connected_gene': 'SLC2A5', 'score': 5.05}, {'connected_gene': 'CTNNBIP1', 'score': 4.78}, {'connected_gene': 'MIR34AHG', 'score': 0.37}]
chr1 GH01I009298 9298557 9304173 1.35 [{'connected_gene': 'LOC102724552', 'score': 19.22}, {'connected_gene': 'SLC2A5', 'score': 4.68}, {'connected_gene': 'SPSB1', 'score': 0.44}, {'connected_gene': 'ENSG00000284652', 'score': 0.13}]
chr1 GH01I009082 9082342 9083846 0.66 [{'connected_gene': 'ENSG00000252404', 'score': 550.77}, {'connected_gene': 'GC01P009083', 'score': 550.77}, {'connected_gene': 'GPR157', 'score': 8.2}, {'connected_gene': 'SLC2A5', 'score': 0.44}]
chr1 GH01I009162 9162041 9167156 1.72 [{'connected_gene': 'GC01M009163', 'score': 550.77}, {'connected_gene': 'GC01P009164', 'score': 550.77}, {'connected_gene': 'GPR157', 'score': 12.03}, {'connected_gene': 'SLC45A1', 'score': 11.34}, {'connected_gene': 'H6PD', 'score': 5.03}, {'connected_gene': 'LINC01759', 'score': 4.85}, {'connected_gene': 'SLC2A5', 'score': 4.48}, {'connected_gene': 'SPSB1', 'score': 1.99}, {'connected_gene': 'GC01M009171', 'score': 0.44}, {'connected_gene': 'MIR34AHG', 'score': 0.29}]
chr1 GH01I009036 9036307 9038602 0.73 [{'connected_gene': 'PIR51806', 'score': 550.77}, {'connected_gene': 'SLC2A5', 'score': 16.59}, {'connected_gene': 'GC01P009083', 'score': 0.25}]
chr1 GH01I009123 9123812 9124384 0.38 [{'connected_gene': 'PIR42185', 'score': 550.77}, {'connected_gene': 'MIR34A', 'score': 11.79}, {'connected_gene': 'RNU6-304P', 'score': 9.36}, {'connected_gene': 'GPR157', 'score': 0.44}, {'connected_gene': 'SLC2A5', 'score': 0.28}]
chr1 GH01I009124 9124439 9124700 0.64 [{'connected_gene': 'PIR42185', 'score': 550.77}, {'connected_gene': 'MIR34A', 'score': 11.79}, {'connected_gene': 'RNU6-304P', 'score': 9.36}, {'connected_gene': 'GPR157', 'score': 0.77}, {'connected_gene': 'SLC2A5', 'score': 0.28}]
chr1 GH01I009198 9198401 9199288 0.66 [{'connected_gene': 'ENSG00000281937', 'score': 550.77}, {'connected_gene': 'MIR34AHG', 'score': 550.77}, {'connected_gene': 'SLC2A5', 'score': 5.93}]

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