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
ENST00000259938 [[35762758, 35763054], [35763507, 35763630], [35764981, 35765088]] [[35762922, 35763054], [35763507, 35763630], [35764981, 35765065]]
NM_001252597 [[35762758, 35763054], [35763507, 35763630], [35764585, 35764683], [35764981, 35765121]] [[35762922, 35763054], [35763507, 35763630], [35764585, 35764627]]
NM_001832 [[35762758, 35763054], [35763507, 35763630], [35764981, 35765121]] [[35762922, 35763054], [35763507, 35763630], [35764981, 35765065]]
NM_001252598 [[35762758, 35763054], [35764981, 35765121]] [[35762922, 35763054], [35764981, 35765065]]
Promoter
Chrom Start End Description
chr6 35765092 35765107 CAGE_peak_1_at_CLPS_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I035894 35894822 35896779 0.52 [{'connected_gene': 'SRPK1', 'score': 24.37}, {'connected_gene': 'MAPK14', 'score': 10.78}, {'connected_gene': 'SLC26A8', 'score': 10.28}, {'connected_gene': 'CLPS', 'score': 10.27}, {'connected_gene': 'GC06M038606', 'score': 0.34}]
chr6 GH06I035973 35973243 35974447 0.96 [{'connected_gene': 'SRPK1', 'score': 15.89}, {'connected_gene': 'SLC26A8', 'score': 11.51}, {'connected_gene': 'MAPK13', 'score': 10.73}, {'connected_gene': 'CLPS', 'score': 10.57}, {'connected_gene': 'ARMC12', 'score': 9.97}, {'connected_gene': 'ENSG00000232909', 'score': 9.97}, {'connected_gene': 'FKBP5', 'score': 9.97}, {'connected_gene': 'LOC105375035', 'score': 0.77}, {'connected_gene': 'DPRXP2', 'score': 0.37}]
chr6 GH06I035907 35907774 35907962 0.6 [{'connected_gene': 'SRSF3', 'score': 13.02}, {'connected_gene': 'SLC26A8', 'score': 12.1}, {'connected_gene': 'ZNF76', 'score': 11.47}, {'connected_gene': 'CLPS', 'score': 10.33}, {'connected_gene': 'SRPK1', 'score': 2.39}, {'connected_gene': 'BRPF3', 'score': 2.26}, {'connected_gene': 'MAPK14', 'score': 1.99}, {'connected_gene': 'MAPK13', 'score': 1.26}, {'connected_gene': 'GC06M038606', 'score': 0.29}]
chr6 GH06I036290 36289844 36292859 1.1 [{'connected_gene': 'C6orf222', 'score': 11.87}, {'connected_gene': 'PNPLA1', 'score': 11.4}, {'connected_gene': 'CLPS', 'score': 9.63}, {'connected_gene': 'BRPF3', 'score': 5.01}, {'connected_gene': 'MAPK13', 'score': 4.34}, {'connected_gene': 'LOC105375036', 'score': 0.26}]
chr6 GH06I035776 35776284 35776991 1.83 [{'connected_gene': 'CLPSL2', 'score': 558.92}, {'connected_gene': 'CLPS', 'score': 12.19}, {'connected_gene': 'ENSG00000232909', 'score': 10.54}, {'connected_gene': 'ARMC12', 'score': 10.52}, {'connected_gene': 'FKBP5', 'score': 10.51}, {'connected_gene': 'CLPSL1', 'score': 0.77}, {'connected_gene': 'GC06M038606', 'score': 0.15}]
chr6 GH06I035796 35796921 35796980 0.68 [{'connected_gene': 'LHFPL5', 'score': 550.77}, {'connected_gene': 'CLPS', 'score': 550.77}, {'connected_gene': 'CLPSL2', 'score': 7.76}, {'connected_gene': 'SRPK1', 'score': 5.99}, {'connected_gene': 'CLPSL1', 'score': 0.37}, {'connected_gene': 'GC06M038606', 'score': 0.18}]
chr6 GH06I035797 35797313 35797372 0.86 [{'connected_gene': 'LHFPL5', 'score': 550.77}, {'connected_gene': 'CLPS', 'score': 550.77}, {'connected_gene': 'CLPSL1', 'score': 0.37}, {'connected_gene': 'GC06M038606', 'score': 0.18}]
chr6 GH06I035849 35849801 35850400 0.2 [{'connected_gene': 'CLPS', 'score': 10.8}, {'connected_gene': 'SLC26A8', 'score': 10.02}, {'connected_gene': 'PIR31334', 'score': 0.39}, {'connected_gene': 'GC06M038606', 'score': 0.31}, {'connected_gene': 'LHFPL5', 'score': 0.23}, {'connected_gene': 'SRPK1', 'score': 0.19}]
chr6 GH06I035966 35966730 35967974 0.63 [{'connected_gene': 'LOC105375035', 'score': 550.77}, {'connected_gene': 'SRPK1', 'score': 11.41}, {'connected_gene': 'SLC26A8', 'score': 11.4}, {'connected_gene': 'MAPK13', 'score': 10.72}, {'connected_gene': 'CLPS', 'score': 10.49}, {'connected_gene': 'ARMC12', 'score': 9.97}, {'connected_gene': 'ENSG00000232909', 'score': 9.97}, {'connected_gene': 'FKBP5', 'score': 9.97}]
chr6 GH06I035629 35629020 35630338 0.43 [{'connected_gene': 'ENSG00000212579', 'score': 13.04}, {'connected_gene': 'FKBP5', 'score': 11.26}, {'connected_gene': 'ARMC12', 'score': 11.26}, {'connected_gene': 'ENSG00000232909', 'score': 11.25}, {'connected_gene': 'CLPS', 'score': 9.82}, {'connected_gene': 'TULP1', 'score': 3.99}, {'connected_gene': 'GC06P041491', 'score': 0.34}, {'connected_gene': 'RPL36P9', 'score': 0.34}]
chr6 GH06I035738 35738474 35741405 1.23 [{'connected_gene': 'ENSG00000212579', 'score': 10.8}, {'connected_gene': 'CLPS', 'score': 10.58}, {'connected_gene': 'MAPK13', 'score': 9.49}, {'connected_gene': 'TEAD3', 'score': 7.95}, {'connected_gene': 'SLC26A8', 'score': 5.84}, {'connected_gene': 'ENSG00000228559', 'score': 5.07}, {'connected_gene': 'LOC285847', 'score': 0.77}, {'connected_gene': 'ENSG00000232909', 'score': 0.77}, {'connected_gene': 'ARMC12', 'score': 0.44}, {'connected_gene': 'LOC100652794', 'score': 0.31}]
chr6 GH06I035742 35742631 35743108 0.56 [{'connected_gene': 'ENSG00000212579', 'score': 10.79}, {'connected_gene': 'CLPS', 'score': 10.59}, {'connected_gene': 'LOC102723648', 'score': 4.96}, {'connected_gene': 'LOC285847', 'score': 0.44}, {'connected_gene': 'ARMC12', 'score': 0.44}, {'connected_gene': 'ENSG00000232909', 'score': 0.44}, {'connected_gene': 'LOC100652794', 'score': 0.34}]