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
ENST00000309594 [[21750783, 21750856], [21751050, 21753223]] [[21751055, 21751364]]
NM_024026 [[21750371, 21750856], [21751050, 21753223]] [[21751055, 21751364]]
Promoter
Chrom Start End Description
chr13 21750307 21750312 CAGE_peak_11_at_MRP63_5end
chr13 21750768 21750779 CAGE_peak_2_at_MRP63_5end
chr13 21750780 21750843 CAGE_peak_1_at_MRP63_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I021174 21174737 21177946 2.07 [{'connected_gene': 'MRPL57', 'score': 550.77}, {'connected_gene': 'SKA3', 'score': 550.77}, {'connected_gene': 'EEF1AKMT1', 'score': 10.09}, {'connected_gene': 'SAP18', 'score': 7.25}]
chr13 GH13I021235 21235706 21238994 0.2 [{'connected_gene': 'MRPL57', 'score': 11.39}, {'connected_gene': 'SKA3', 'score': 11.39}, {'connected_gene': 'LINC01046', 'score': 0.77}, {'connected_gene': 'ESRRAP2', 'score': 0.34}]
chr13 GH13I021217 21217498 21220590 0.82 [{'connected_gene': 'MRPL57', 'score': 12.29}, {'connected_gene': 'SKA3', 'score': 12.29}, {'connected_gene': 'SAP18', 'score': 4.6}, {'connected_gene': 'ENSG00000271250', 'score': 0.77}, {'connected_gene': 'LINC01046', 'score': 0.37}]
chr13 GH13I021149 21149601 21149800 0.54 [{'connected_gene': 'MRPL57', 'score': 12.28}, {'connected_gene': 'SKA3', 'score': 12.28}, {'connected_gene': 'GC13M021142', 'score': 0.44}]
chr13 GH13I021296 21296977 21299520 1.53 [{'connected_gene': 'MIPEPP3', 'score': 555.53}, {'connected_gene': 'LOC101928764', 'score': 550.77}, {'connected_gene': 'MRPL57', 'score': 10.82}, {'connected_gene': 'SKA3', 'score': 10.82}, {'connected_gene': 'GRK6P1', 'score': 8.87}, {'connected_gene': 'LINC00539', 'score': 6.22}]
chr13 GH13I021123 21123385 21124362 0.38 [{'connected_gene': 'LATS2', 'score': 11.93}, {'connected_gene': 'MRPL57', 'score': 11.74}, {'connected_gene': 'SKA3', 'score': 11.74}, {'connected_gene': 'SAP18', 'score': 4.85}, {'connected_gene': 'GC13M021127', 'score': 0.77}, {'connected_gene': 'ENSG00000275689', 'score': 0.77}, {'connected_gene': 'IPPKP1', 'score': 0.37}]
chr13 GH13I021110 21110882 21111031 0.67 [{'connected_gene': 'LATS2', 'score': 12.45}, {'connected_gene': 'ENSG00000252128', 'score': 12.25}, {'connected_gene': 'SAP18', 'score': 12.25}, {'connected_gene': 'MRPL57', 'score': 11.46}, {'connected_gene': 'SKA3', 'score': 11.46}, {'connected_gene': 'LATS2-AS1', 'score': 11.19}, {'connected_gene': 'IPPKP1', 'score': 0.44}, {'connected_gene': 'GC13M021127', 'score': 0.37}, {'connected_gene': 'ENSG00000275689', 'score': 0.37}]
chr13 GH13I021032 21032602 21035560 0.94 [{'connected_gene': 'LATS2', 'score': 17.38}, {'connected_gene': 'LATS2-AS1', 'score': 12.15}, {'connected_gene': 'ENSG00000252128', 'score': 11.0}, {'connected_gene': 'SAP18', 'score': 11.0}, {'connected_gene': 'MRPL57', 'score': 10.57}, {'connected_gene': 'SKA3', 'score': 10.57}, {'connected_gene': 'CRYL1', 'score': 9.24}, {'connected_gene': 'GC13M021039', 'score': 0.77}, {'connected_gene': 'RNU4-9P', 'score': 0.77}]
chr13 GH13I021139 21139367 21141801 2.01 [{'connected_gene': 'SAP18', 'score': 557.82}, {'connected_gene': 'GC13M021142', 'score': 550.77}, {'connected_gene': 'ENSG00000252128', 'score': 550.77}, {'connected_gene': 'MRPL57', 'score': 12.63}, {'connected_gene': 'SKA3', 'score': 12.63}]
chr13 GH13I021105 21105583 21106814 0.51 [{'connected_gene': 'IPPKP1', 'score': 550.77}, {'connected_gene': 'LATS2', 'score': 20.43}, {'connected_gene': 'MRPL57', 'score': 11.65}, {'connected_gene': 'SKA3', 'score': 11.65}, {'connected_gene': 'RNU4-9P', 'score': 11.47}, {'connected_gene': 'LATS2-AS1', 'score': 11.37}, {'connected_gene': 'ENSG00000252128', 'score': 11.31}, {'connected_gene': 'SAP18', 'score': 11.31}, {'connected_gene': 'GC13M021127', 'score': 0.34}, {'connected_gene': 'ENSG00000275689', 'score': 0.34}]
chr13 GH13I021031 21031601 21031800 0.2 [{'connected_gene': 'LATS2-AS1', 'score': 12.15}, {'connected_gene': 'LATS2', 'score': 12.05}, {'connected_gene': 'ENSG00000252128', 'score': 11.0}, {'connected_gene': 'SAP18', 'score': 11.0}, {'connected_gene': 'MRPL57', 'score': 10.57}, {'connected_gene': 'SKA3', 'score': 10.57}, {'connected_gene': 'CRYL1', 'score': 9.24}, {'connected_gene': 'GC13M021039', 'score': 0.44}, {'connected_gene': 'RNU4-9P', 'score': 0.44}]
chr13 GH13I021035 21035601 21035800 0.51 [{'connected_gene': 'LATS2-AS1', 'score': 12.13}, {'connected_gene': 'LATS2', 'score': 12.05}, {'connected_gene': 'ENSG00000252128', 'score': 11.0}, {'connected_gene': 'SAP18', 'score': 11.0}, {'connected_gene': 'MRPL57', 'score': 10.57}, {'connected_gene': 'SKA3', 'score': 10.57}, {'connected_gene': 'CRYL1', 'score': 9.24}, {'connected_gene': 'GC13M021039', 'score': 0.77}, {'connected_gene': 'RNU4-9P', 'score': 0.77}]
chr13 GH13I021142 21142801 21143000 0.43 [{'connected_gene': 'GC13M021142', 'score': 550.77}, {'connected_gene': 'MRPL57', 'score': 12.65}, {'connected_gene': 'SKA3', 'score': 12.65}, {'connected_gene': 'SAP18', 'score': 0.77}]
chr13 GH13I021124 21124702 21125201 0.79 [{'connected_gene': 'GC13M021127', 'score': 550.77}, {'connected_gene': 'ENSG00000275689', 'score': 550.77}, {'connected_gene': 'LATS2', 'score': 11.93}, {'connected_gene': 'MRPL57', 'score': 11.74}, {'connected_gene': 'SKA3', 'score': 11.74}, {'connected_gene': 'IPPKP1', 'score': 0.34}]
chr13 GH13I021038 21038002 21041828 0.97 [{'connected_gene': 'GC13M021039', 'score': 550.77}, {'connected_gene': 'RNU4-9P', 'score': 550.77}, {'connected_gene': 'LATS2', 'score': 21.96}, {'connected_gene': 'LATS2-AS1', 'score': 12.13}, {'connected_gene': 'ENSG00000252128', 'score': 11.0}, {'connected_gene': 'SAP18', 'score': 11.0}, {'connected_gene': 'MRPL57', 'score': 10.58}, {'connected_gene': 'SKA3', 'score': 10.58}, {'connected_gene': 'CRYL1', 'score': 9.24}]