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
ENST00000317907 [[32853128, 32853447], [32855589, 32855767], [32858942, 32859072], [32865336, 32865477], [32875197, 32875300], [32889369, 32889534], [32891701, 32891835], [32897338, 32897451], [32903922, 32903989], [32927873, 32927987], [32958894, 32958990], [32961760, 32961883], [32983358, 32983586], [33002948, 33003047], [33007692, 33007745], [33012050, 33012216], [33036090, 33036288], [33037570, 33037682], [33042523, 33042624], [33045882, 33046118]] [[32853359, 32853447], [32855589, 32855767], [32858942, 32859072], [32865336, 32865477], [32875197, 32875300], [32889369, 32889534], [32891701, 32891835], [32897338, 32897451], [32903922, 32903989], [32927873, 32927987], [32958894, 32958990], [32961760, 32961883], [32983358, 32983586], [33002948, 33003047], [33007692, 33007745], [33012050, 33012216], [33036090, 33036288], [33037570, 33037682], [33042523, 33042624], [33045882, 33046005]]
ENST00000454690 [[32853222, 32853447], [32903922, 32903989], [32927873, 32927987], [32958894, 32958988]] [[32853359, 32853447], [32903922, 32903960]]
ENST00000428527 [[33002948, 33003047], [33005120, 33005179], [33007692, 33007745], [33012050, 33012216], [33036090, 33036288], [33037570, 33037682]] [[33002948, 33003047], [33005120, 33005162]]
ENST00000448773 [[32853098, 32853200], [32855589, 32855767], [32858942, 32859072], [32865336, 32865435]] [[32855651, 32855767], [32858942, 32859072], [32865336, 32865435]]
ENST00000438654 [[32903944, 32903989], [32927873, 32927987], [32929927, 32930065]] [[32903944, 32903989], [32927873, 32927987], [32929927, 32929984]]
ENST00000433416 [[32961851, 32961883], [32983358, 32983586], [32991534, 32991616], [33002948, 33003047], [33007692, 33007745], [33012050, 33012216]] [[32961851, 32961883], [32983358, 32983586], [32991534, 32991576]]
NM_001193509 [[32853086, 32853200], [32855589, 32855767], [32858942, 32859072], [32865336, 32865477], [32875197, 32875300], [32889369, 32889534], [32891701, 32891835], [32897338, 32897451], [32903922, 32903989], [32927873, 32927987], [32958894, 32958990], [32961760, 32961883], [32983358, 32983586], [33002948, 33003047], [33007692, 33007745], [33012050, 33012216], [33036090, 33036288], [33037570, 33037682], [33042523, 33042624], [33045882, 33046118]] [[32855651, 32855767], [32858942, 32859072], [32865336, 32865477], [32875197, 32875300], [32889369, 32889534], [32891701, 32891835], [32897338, 32897451], [32903922, 32903989], [32927873, 32927987], [32958894, 32958990], [32961760, 32961883], [32983358, 32983586], [33002948, 33003047], [33007692, 33007745], [33012050, 33012216], [33036090, 33036288], [33037570, 33037682], [33042523, 33042624], [33045882, 33046005]]
NM_017735 [[32853086, 32853447], [32855589, 32855767], [32858942, 32859072], [32865336, 32865477], [32875197, 32875300], [32889369, 32889534], [32891701, 32891835], [32897338, 32897451], [32903922, 32903989], [32927873, 32927987], [32958894, 32958990], [32961760, 32961883], [32983358, 32983586], [33002948, 33003047], [33007692, 33007745], [33012050, 33012216], [33036090, 33036288], [33037570, 33037682], [33042523, 33042624], [33045882, 33046118]] [[32853359, 32853447], [32855589, 32855767], [32858942, 32859072], [32865336, 32865477], [32875197, 32875300], [32889369, 32889534], [32891701, 32891835], [32897338, 32897451], [32903922, 32903989], [32927873, 32927987], [32958894, 32958990], [32961760, 32961883], [32983358, 32983586], [33002948, 33003047], [33007692, 33007745], [33012050, 33012216], [33036090, 33036288], [33037570, 33037682], [33042523, 33042624], [33045882, 33046005]]
Promoter
Chrom Start End Description
chr2 32853093 32853127 CAGE_peak_2_at_TTC27_5end
chr2 32853135 32853189 CAGE_peak_1_at_TTC27_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I032038 32038743 32040924 2.03 [{'connected_gene': 'DPY30', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 32.11}, {'connected_gene': 'BIRC6', 'score': 12.53}, {'connected_gene': 'TTC27', 'score': 10.0}, {'connected_gene': 'NLRC4', 'score': 5.46}, {'connected_gene': 'ENSG00000271228', 'score': 0.31}]
chr2 GH02I032277 32277072 32279201 2.03 [{'connected_gene': 'YIPF4', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 21.45}, {'connected_gene': 'BIRC6', 'score': 19.96}, {'connected_gene': 'TTC27', 'score': 15.14}, {'connected_gene': 'DDX50P1', 'score': 14.91}, {'connected_gene': 'RNU6-647P', 'score': 10.56}, {'connected_gene': 'NLRC4', 'score': 4.71}, {'connected_gene': 'ENSG00000272754', 'score': 0.26}]
chr2 GH02I032328 32328171 32330420 0.91 [{'connected_gene': 'YIPF4', 'score': 13.04}, {'connected_gene': 'TTC27', 'score': 7.25}, {'connected_gene': 'ENSG00000272754', 'score': 0.44}, {'connected_gene': 'BIRC6', 'score': 0.31}]
chr2 GH02I032463 32463899 32465169 0.2 [{'connected_gene': 'MIR558', 'score': 11.42}, {'connected_gene': 'BIRC6', 'score': 11.36}, {'connected_gene': 'TTC27', 'score': 5.47}, {'connected_gene': 'ENSG00000276334', 'score': 0.22}, {'connected_gene': 'BIRC6-AS1', 'score': 0.18}]
chr2 GH02I032617 32617441 32618483 0.71 [{'connected_gene': 'MIR558', 'score': 10.58}, {'connected_gene': 'BIRC6', 'score': 10.47}, {'connected_gene': 'TTC27', 'score': 5.06}, {'connected_gene': 'GC02M032591', 'score': 0.31}]
chr2 GH02I032261 32261601 32266210 1.59 [{'connected_gene': 'NLRC4', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 20.97}, {'connected_gene': 'BIRC6', 'score': 16.91}, {'connected_gene': 'DDX50P1', 'score': 12.8}, {'connected_gene': 'TTC27', 'score': 11.55}, {'connected_gene': 'GC02M032177', 'score': 0.26}]
chr2 GH02I032425 32425267 32426890 0.58 [{'connected_gene': 'BIRC6', 'score': 11.15}, {'connected_gene': 'MIR558', 'score': 11.09}, {'connected_gene': 'TTC27', 'score': 6.11}, {'connected_gene': 'BIRC6-AS1', 'score': 0.25}, {'connected_gene': 'ENSG00000276334', 'score': 0.15}]
chr2 GH02I032288 32288202 32290600 1.07 [{'connected_gene': 'BIRC6', 'score': 29.2}, {'connected_gene': 'NLRC4', 'score': 16.74}, {'connected_gene': 'DDX50P1', 'score': 16.55}, {'connected_gene': 'TTC27', 'score': 15.83}, {'connected_gene': 'SLC30A6', 'score': 11.91}, {'connected_gene': 'YIPF4', 'score': 11.18}, {'connected_gene': 'RNU6-647P', 'score': 10.87}, {'connected_gene': 'MIR558', 'score': 9.72}, {'connected_gene': 'ENSG00000272754', 'score': 0.29}]
chr2 GH02I033299 33296754 33297418 0.49 [{'connected_gene': 'BIRC6', 'score': 22.06}, {'connected_gene': 'TTC27', 'score': 10.14}, {'connected_gene': 'RNA5SP91', 'score': 0.39}, {'connected_gene': 'GC02M033286', 'score': 0.39}, {'connected_gene': 'RNA5SP92', 'score': 0.28}, {'connected_gene': 'LTBP1', 'score': 0.05}]
chr2 GH02I032804 32804794 32805989 0.86 [{'connected_gene': 'BIRC6', 'score': 9.94}, {'connected_gene': 'LINC00486', 'score': 0.34}, {'connected_gene': 'GC02M032770', 'score': 0.29}, {'connected_gene': 'TTC27', 'score': 0.1}]
chr2 GH02I031983 31983556 31984691 0.52 [{'connected_gene': 'BIRC6', 'score': 19.83}, {'connected_gene': 'DDX50P1', 'score': 14.8}, {'connected_gene': 'TTC27', 'score': 11.13}, {'connected_gene': 'SLC30A6', 'score': 10.99}, {'connected_gene': 'MEMO1', 'score': 0.31}, {'connected_gene': 'GC02P031938', 'score': 0.25}, {'connected_gene': 'DPY30', 'score': 0.22}]
chr2 GH02I032164 32164460 32168155 2.11 [{'connected_gene': 'SLC30A6', 'score': 607.83}, {'connected_gene': 'ENSG00000272716', 'score': 559.1}, {'connected_gene': 'GC02M032166', 'score': 550.77}, {'connected_gene': 'BIRC6', 'score': 47.0}, {'connected_gene': 'DDX50P1', 'score': 32.71}, {'connected_gene': 'TTC27', 'score': 31.23}, {'connected_gene': 'RNU6-647P', 'score': 10.51}, {'connected_gene': 'NLRC4', 'score': 5.52}, {'connected_gene': 'GC02P032156', 'score': 0.39}]
chr2 GH02I032646 32646558 32647909 0.63 [{'connected_gene': 'TTC27', 'score': 22.03}, {'connected_gene': 'MIR558', 'score': 10.81}, {'connected_gene': 'BIRC6', 'score': 10.75}, {'connected_gene': 'MIR4765', 'score': 0.39}, {'connected_gene': 'GC02M032770', 'score': 0.13}]
chr2 GH02I032697 32697294 32697443 0.54 [{'connected_gene': 'TTC27', 'score': 10.7}, {'connected_gene': 'MIR558', 'score': 10.26}, {'connected_gene': 'BIRC6', 'score': 10.21}, {'connected_gene': 'MIR4765', 'score': 0.21}, {'connected_gene': 'GC02M032770', 'score': 0.18}]
chr2 GH02I032627 32627014 32629001 2.02 [{'connected_gene': 'TTC27', 'score': 560.89}, {'connected_gene': 'BIRC6', 'score': 22.1}, {'connected_gene': 'DDX50P1', 'score': 14.62}, {'connected_gene': 'SLC30A6', 'score': 14.04}, {'connected_gene': 'DPY30', 'score': 4.59}, {'connected_gene': 'GC02M032591', 'score': 0.28}]
chr2 GH02I032418 32418222 32419562 0.56 [{'connected_gene': 'TTC27', 'score': 5.3}, {'connected_gene': 'SLC30A6', 'score': 4.11}, {'connected_gene': 'BIRC6-AS1', 'score': 0.28}, {'connected_gene': 'BIRC6', 'score': 0.21}, {'connected_gene': 'ENSG00000276334', 'score': 0.15}]
chr2 GH02I032792 32792213 32793008 0.38 [{'connected_gene': 'TTC27', 'score': 4.37}, {'connected_gene': 'GC02M032770', 'score': 0.37}, {'connected_gene': 'LINC00486', 'score': 0.29}]
chr2 GH02I032484 32484398 32486225 0.87 [{'connected_gene': 'TTC27', 'score': 4.41}, {'connected_gene': 'ENSG00000276334', 'score': 0.28}, {'connected_gene': 'BIRC6-AS1', 'score': 0.14}, {'connected_gene': 'BIRC6', 'score': 0.13}]
chr2 GH02I032768 32768454 32768603 0.94 [{'connected_gene': 'TTC27', 'score': 10.07}, {'connected_gene': 'GC02M032770', 'score': 0.77}, {'connected_gene': 'MIR4765', 'score': 0.12}]
chr2 GH02I032632 32632254 32632363 0.62 [{'connected_gene': 'TTC27', 'score': 0.77}, {'connected_gene': 'MIR4765', 'score': 0.77}]
chr2 GH02I032756 32756001 32756400 0.2 [{'connected_gene': 'TTC27', 'score': 14.76}, {'connected_gene': 'GC02M032770', 'score': 0.37}, {'connected_gene': 'MIR4765', 'score': 0.13}]
chr2 GH02I032715 32715346 32716275 0.73 [{'connected_gene': 'TTC27', 'score': 5.97}, {'connected_gene': 'GC02M032770', 'score': 0.22}, {'connected_gene': 'MIR4765', 'score': 0.18}]
chr2 GH02I033092 33092648 33093460 0.31 [{'connected_gene': 'TTC27', 'score': 8.91}, {'connected_gene': 'TYW1P1', 'score': 0.34}, {'connected_gene': 'GC02M033047', 'score': 0.34}, {'connected_gene': 'LTBP1', 'score': 0.11}]
chr2 GH02I033474 33474762 33480889 2.5 [{'connected_gene': 'RASGRP3', 'score': 575.09}, {'connected_gene': 'TTC27', 'score': 11.09}, {'connected_gene': 'LOC105374454', 'score': 0.17}]
chr2 GH02I032284 32284201 32284801 0.31 [{'connected_gene': 'RNU6-647P', 'score': 10.47}, {'connected_gene': 'BIRC6', 'score': 10.08}, {'connected_gene': 'TTC27', 'score': 4.75}, {'connected_gene': 'YIPF4', 'score': 0.44}, {'connected_gene': 'ENSG00000272754', 'score': 0.28}]
chr2 GH02I032355 32355852 32359624 2.09 [{'connected_gene': 'GC02M032356', 'score': 550.77}, {'connected_gene': 'BIRC6', 'score': 550.77}, {'connected_gene': 'DDX50P1', 'score': 10.23}, {'connected_gene': 'TTC27', 'score': 6.55}]
chr2 GH02I032772 32772800 32773001 0.77 [{'connected_gene': 'GC02M032770', 'score': 550.77}, {'connected_gene': 'TTC27', 'score': 5.09}, {'connected_gene': 'MIR4765', 'score': 0.12}]
chr2 GH02I032711 32711200 32711601 0.66 [{'connected_gene': 'GC02M032770', 'score': 0.21}, {'connected_gene': 'MIR4765', 'score': 0.18}, {'connected_gene': 'TTC27', 'score': 0.18}]