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
ENST00000307296 [[33839843, 33840429], [33853563, 33853618], [33855050, 33855120], [33863446, 33863574], [33866678, 33866832], [33867971, 33868072], [33870344, 33870461], [33877535, 33877758], [33879695, 33879819], [33883388, 33883566], [33885603, 33885715], [33886910, 33887080], [33893979, 33894228], [33895370, 33895505], [33896657, 33896752], [33905497, 33905621], [33906734, 33906922], [33907842, 33911194]] [[33840220, 33840429], [33853563, 33853618], [33855050, 33855120], [33863446, 33863574], [33866678, 33866832], [33867971, 33868072], [33870344, 33870461], [33877535, 33877758], [33879695, 33879819], [33883388, 33883566], [33885603, 33885715], [33886910, 33887080], [33893979, 33894228], [33895370, 33895505], [33896657, 33896752], [33905497, 33905621], [33906734, 33906922], [33907842, 33908017]]
ENST00000457054 [[33840065, 33840429], [33853563, 33853618], [33855050, 33855120], [33863446, 33863574], [33866678, 33866832], [33867971, 33868072], [33870329, 33870461], [33877535, 33877758], [33879695, 33879819], [33883388, 33883566], [33885603, 33885715], [33886910, 33887080], [33893979, 33894228], [33895370, 33895505], [33896657, 33896752], [33905497, 33905621], [33906734, 33906922], [33907842, 33911194]] [[33840220, 33840429], [33853563, 33853618], [33855050, 33855120], [33863446, 33863574], [33866678, 33866832], [33867971, 33868072], [33870329, 33870461], [33877535, 33877758], [33879695, 33879819], [33883388, 33883566], [33885603, 33885715], [33886910, 33887080], [33893979, 33894228], [33895370, 33895505], [33896657, 33896752], [33905497, 33905621], [33906734, 33906922], [33907842, 33908017]]
ENST00000435909 [[33840102, 33840429], [33855050, 33855120], [33863446, 33863574], [33866678, 33866740]] [[33840220, 33840429], [33855050, 33855060]]
ENST00000430877 [[33840112, 33840429], [33852588, 33852683], [33853563, 33853618], [33855050, 33855120], [33863446, 33863491]] [[33840220, 33840429], [33852588, 33852616]]
ENST00000413073 [[33840114, 33840429], [33853563, 33853618], [33863526, 33863574], [33866678, 33866826]] [[33840220, 33840429], [33853563, 33853618], [33863526, 33863574], [33866678, 33866826]]
ENST00000477798 [[33840121, 33840429], [33853563, 33853618], [33855050, 33855120], [33866678, 33866832]] None
ENST00000498147 [[33840431, 33841030], [33853563, 33853618], [33855050, 33855120], [33863446, 33863524]] None
ENST00000484478 [[33852554, 33852683], [33853563, 33853618], [33855050, 33855120], [33863446, 33863574], [33866678, 33866832], [33867971, 33868031]] None
ENST00000494810 [[33854768, 33855120], [33863446, 33863574], [33866678, 33866817]] None
ENST00000459659 [[33863464, 33863574], [33866678, 33866832], [33867971, 33868369]] None
ENST00000412887 [[33866732, 33866832], [33867971, 33868072], [33870344, 33870461], [33876745, 33876810], [33877535, 33877758], [33879695, 33879819], [33885603, 33885715]] [[33866786, 33866832], [33867971, 33868072], [33870344, 33870461], [33876745, 33876769]]
ENST00000482561 [[33869071, 33869451], [33870344, 33870461], [33877535, 33877664]] None
ENST00000487821 [[33869972, 33870461], [33877535, 33877758], [33879695, 33879733]] None
ENST00000465122 [[33885582, 33885715], [33886910, 33887080], [33893979, 33894228], [33895370, 33895505], [33896657, 33896752], [33905497, 33905609]] None
ENST00000495235 [[33894099, 33894228], [33895370, 33895505], [33896657, 33896821]] None
ENST00000489869 [[33896109, 33896752], [33905497, 33905621], [33906734, 33906809]] None
ENST00000473593 [[33905387, 33905621], [33906734, 33906922], [33907842, 33907960]] None
NM_001256192 [[33840062, 33840429], [33853563, 33853618], [33855050, 33855120], [33863446, 33863574], [33866678, 33866832], [33867971, 33868756]] [[33840220, 33840429], [33853563, 33853618], [33855050, 33855120], [33863446, 33863574], [33866678, 33866832], [33867971, 33868171]]
NM_013374 [[33840062, 33840429], [33853563, 33853618], [33855050, 33855120], [33863446, 33863574], [33866678, 33866832], [33867971, 33868072], [33870344, 33870461], [33877535, 33877758], [33879695, 33879819], [33883388, 33883566], [33885603, 33885715], [33886910, 33887080], [33893979, 33894228], [33895370, 33895505], [33896657, 33896752], [33905497, 33905621], [33906734, 33906922], [33907842, 33911199]] [[33840220, 33840429], [33853563, 33853618], [33855050, 33855120], [33863446, 33863574], [33866678, 33866832], [33867971, 33868072], [33870344, 33870461], [33877535, 33877758], [33879695, 33879819], [33883388, 33883566], [33885603, 33885715], [33886910, 33887080], [33893979, 33894228], [33895370, 33895505], [33896657, 33896752], [33905497, 33905621], [33906734, 33906922], [33907842, 33908017]]
NM_001162429 [[33840062, 33840429], [33853563, 33853618], [33855050, 33855120], [33863446, 33863574], [33866678, 33866832], [33867971, 33868072], [33870329, 33870461], [33877535, 33877758], [33879695, 33879819], [33883388, 33883566], [33885603, 33885715], [33886910, 33887080], [33893979, 33894228], [33895370, 33895505], [33896657, 33896752], [33905497, 33905621], [33906734, 33906922], [33907842, 33911199]] [[33840220, 33840429], [33853563, 33853618], [33855050, 33855120], [33863446, 33863574], [33866678, 33866832], [33867971, 33868072], [33870329, 33870461], [33877535, 33877758], [33879695, 33879819], [33883388, 33883566], [33885603, 33885715], [33886910, 33887080], [33893979, 33894228], [33895370, 33895505], [33896657, 33896752], [33905497, 33905621], [33906734, 33906922], [33907842, 33908017]]
Promoter
Chrom Start End Description
chr3 33840050 33840177 CAGE_peak_1_at_PDCD6IP_5end
chr3 33852404 33852408 CAGE_peak_15_at_PDCD6IP_5end
chr3 33893947 33893950 CAGE_peak_5_at_PDCD6IP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I033437 33437191 33442682 2.31 [{'connected_gene': 'UBP1', 'score': 578.92}, {'connected_gene': 'PIR40256', 'score': 550.77}, {'connected_gene': 'CNOT10', 'score': 69.7}, {'connected_gene': 'PDCD6IP', 'score': 44.86}, {'connected_gene': 'FBXL2', 'score': 20.53}, {'connected_gene': 'GLB1', 'score': 20.05}, {'connected_gene': 'TMPPE', 'score': 19.35}, {'connected_gene': 'CMTM6', 'score': 9.75}, {'connected_gene': 'GC03M033417', 'score': 0.39}]
chr3 GH03I032832 32832968 32833621 0.96 [{'connected_gene': 'CNOT10', 'score': 53.96}, {'connected_gene': 'UBP1', 'score': 39.88}, {'connected_gene': 'PDCD6IP', 'score': 38.97}, {'connected_gene': 'FBXL2', 'score': 12.45}, {'connected_gene': 'TMPPE', 'score': 11.79}, {'connected_gene': 'GLB1', 'score': 10.3}, {'connected_gene': 'TRIM71', 'score': 0.37}, {'connected_gene': 'PIR32571', 'score': 0.26}, {'connected_gene': 'GC03M032797', 'score': 0.19}]
chr3 GH03I033787 33787001 33787799 1.01 [{'connected_gene': 'CLASP2', 'score': 11.09}, {'connected_gene': 'UBP1', 'score': 10.11}, {'connected_gene': 'PDCD6IP', 'score': 6.28}, {'connected_gene': 'ENSG00000271324', 'score': 0.44}, {'connected_gene': 'LOC105377023', 'score': 0.39}, {'connected_gene': 'SDAD1P3', 'score': 0.37}]
chr3 GH03I033746 33746401 33747000 0.65 [{'connected_gene': 'CLASP2', 'score': 19.0}, {'connected_gene': 'PDCD6IP', 'score': 9.4}, {'connected_gene': 'ENSG00000228112', 'score': 0.37}, {'connected_gene': 'SDAD1P3', 'score': 0.31}]
chr3 GH03I032847 32847331 32852665 0.87 [{'connected_gene': 'TRIM71', 'score': 12.52}, {'connected_gene': 'CNOT10', 'score': 11.11}, {'connected_gene': 'PDCD6IP', 'score': 10.46}, {'connected_gene': 'TMPPE', 'score': 9.99}, {'connected_gene': 'GLB1', 'score': 9.99}, {'connected_gene': 'PIR32571', 'score': 0.31}, {'connected_gene': 'GC03M032797', 'score': 0.23}]
chr3 GH03I033849 33849001 33849200 0.31 [{'connected_gene': 'LOC105377024', 'score': 0.31}, {'connected_gene': 'PDCD6IP', 'score': 0.23}, {'connected_gene': 'GC03M033793', 'score': 0.23}]
chr3 GH03I033113 33113167 33116246 2.06 [{'connected_gene': 'CRTAP', 'score': 564.86}, {'connected_gene': 'GC03P033114', 'score': 550.77}, {'connected_gene': 'CNOT10', 'score': 31.91}, {'connected_gene': 'PDCD6IP', 'score': 25.19}, {'connected_gene': 'GLB1', 'score': 21.05}, {'connected_gene': 'UBP1', 'score': 11.49}, {'connected_gene': 'PIR55934', 'score': 0.31}]
chr3 GH03I033895 33895269 33895418 0.76 [{'connected_gene': 'PDCD6IP', 'score': 21.78}, {'connected_gene': 'UBP1', 'score': 11.25}, {'connected_gene': 'LOC105377024', 'score': 0.37}, {'connected_gene': 'GC03M034126', 'score': 0.07}]
chr3 GH03I033807 33807201 33807800 0.66 [{'connected_gene': 'PDCD6IP', 'score': 24.27}, {'connected_gene': 'CLASP2', 'score': 10.24}, {'connected_gene': 'GC03M033793', 'score': 0.44}, {'connected_gene': 'LOC105377024', 'score': 0.19}]
chr3 GH03I033790 33790047 33792595 1.48 [{'connected_gene': 'PDCD6IP', 'score': 18.27}, {'connected_gene': 'CLASP2', 'score': 15.4}, {'connected_gene': 'ENSG00000271643', 'score': 6.49}, {'connected_gene': 'ENSG00000271324', 'score': 6.4}, {'connected_gene': 'LOC105377023', 'score': 0.44}, {'connected_gene': 'SDAD1P3', 'score': 0.37}]
chr3 GH03I033904 33904417 33905755 1.11 [{'connected_gene': 'PDCD6IP', 'score': 10.83}, {'connected_gene': 'LOC105377024', 'score': 0.31}, {'connected_gene': 'GC03M034126', 'score': 0.07}]
chr3 GH03I034010 34010092 34014064 1.22 [{'connected_gene': 'PDCD6IP', 'score': 4.38}, {'connected_gene': 'ENSG00000271324', 'score': 4.25}, {'connected_gene': 'GC03M034126', 'score': 0.13}, {'connected_gene': 'LOC105377024', 'score': 0.12}]
chr3 GH03I033883 33883402 33884200 0.73 [{'connected_gene': 'PDCD6IP', 'score': 8.93}, {'connected_gene': 'LOC105377024', 'score': 0.77}, {'connected_gene': 'GC03M034126', 'score': 0.07}]
chr3 GH03I033797 33797494 33801159 2.1 [{'connected_gene': 'PDCD6IP', 'score': 595.17}, {'connected_gene': 'ENSG00000271020', 'score': 550.77}, {'connected_gene': 'LOC105377023', 'score': 550.77}, {'connected_gene': 'GC03M033793', 'score': 550.77}, {'connected_gene': 'GLB1', 'score': 10.71}, {'connected_gene': 'TMPPE', 'score': 10.64}, {'connected_gene': 'CLASP2', 'score': 10.51}, {'connected_gene': 'ENSG00000271324', 'score': 7.75}, {'connected_gene': 'LOC105377024', 'score': 0.18}]
chr3 GH03I034264 34264496 34264991 0.25 [{'connected_gene': 'PDCD6IP', 'score': 2.03}, {'connected_gene': 'GC03M034221', 'score': 0.28}, {'connected_gene': 'GC03P034312', 'score': 0.25}, {'connected_gene': 'ENSG00000236452', 'score': 0.21}, {'connected_gene': 'LINC01811', 'score': 0.14}]
chr3 GH03I033795 33795908 33796166 0.57 [{'connected_gene': 'ENSG00000271020', 'score': 550.77}, {'connected_gene': 'ENSG00000271324', 'score': 550.77}, {'connected_gene': 'ENSG00000271643', 'score': 550.77}, {'connected_gene': 'PDCD6IP', 'score': 17.02}, {'connected_gene': 'CLASP2', 'score': 3.78}, {'connected_gene': 'GC03M033793', 'score': 0.77}, {'connected_gene': 'LOC105377023', 'score': 0.77}]