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
ENST00000339399 [[100745642, 100745891], [100756912, 100757062], [100760837, 100760960], [100767245, 100767435], [100773552, 100773671], [100774702, 100774754], [100777645, 100778225]] [[100745837, 100745891], [100756912, 100757062], [100760837, 100760960], [100767245, 100767435], [100773552, 100773671], [100774702, 100774754], [100777645, 100777713]]
ENST00000473205 [[100746873, 100746974], [100756912, 100757062], [100760837, 100760960], [100764557, 100764669], [100767216, 100767417]] None
ENST00000486769 [[100760895, 100760960], [100767245, 100767580]] None
NM_006401 [[100745488, 100745891], [100756912, 100757062], [100760837, 100760960], [100767245, 100767435], [100773552, 100773671], [100774702, 100774754], [100777645, 100778225]] [[100745837, 100745891], [100756912, 100757062], [100760837, 100760960], [100767245, 100767435], [100773552, 100773671], [100774702, 100774754], [100777645, 100777713]]
Promoter
Chrom Start End Description
chr9 100745598 100745609 CAGE_peak_2_at_ANP32B_5end
chr9 100745615 100745648 CAGE_peak_1_at_ANP32B_5end
chr9 100746641 100746654 CAGE_peak_5_at_ANP32B_5end
chr9 100760867 100760887 CAGE_peak_4_at_ANP32B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I097501 97501151 97505818 2.49 [{'connected_gene': 'TMOD1', 'score': 555.57}, {'connected_gene': 'HEMGN', 'score': 6.55}, {'connected_gene': 'VN1R51P', 'score': 6.23}, {'connected_gene': 'ANP32B', 'score': 3.36}, {'connected_gene': 'LOC105376168', 'score': 0.39}]
chr9 GH09I097978 97978484 97979452 0.49 [{'connected_gene': 'HEMGN', 'score': 11.94}, {'connected_gene': 'TRIM14', 'score': 4.6}, {'connected_gene': 'ANP32B', 'score': 0.77}, {'connected_gene': 'GC09P097960', 'score': 0.37}, {'connected_gene': 'PIR49291', 'score': 0.37}]
chr9 GH09I097932 97932895 97944494 1.67 [{'connected_gene': 'HEMGN', 'score': 550.44}, {'connected_gene': 'ENSG00000236896', 'score': 22.76}, {'connected_gene': 'TRMO', 'score': 21.52}, {'connected_gene': 'ANP32B', 'score': 12.13}, {'connected_gene': 'ANKS6', 'score': 4.95}, {'connected_gene': 'FOXE1', 'score': 4.64}]
chr9 GH09I097970 97970179 97970328 0.4 [{'connected_gene': 'HEMGN', 'score': 12.6}, {'connected_gene': 'RNU6-918P', 'score': 11.23}, {'connected_gene': 'ANP32B', 'score': 0.39}, {'connected_gene': 'GC09P097960', 'score': 0.39}, {'connected_gene': 'PIR49291', 'score': 0.39}]
chr9 GH09I097971 97971778 97972446 0.2 [{'connected_gene': 'HEMGN', 'score': 12.78}, {'connected_gene': 'RNU6-918P', 'score': 12.02}, {'connected_gene': 'ANP32B', 'score': 0.39}, {'connected_gene': 'GC09P097960', 'score': 0.39}, {'connected_gene': 'PIR49291', 'score': 0.39}]
chr9 GH09I097969 97969720 97969939 0.31 [{'connected_gene': 'HEMGN', 'score': 12.63}, {'connected_gene': 'RNU6-918P', 'score': 11.23}, {'connected_gene': 'GC09P097960', 'score': 0.44}, {'connected_gene': 'PIR49291', 'score': 0.44}, {'connected_gene': 'ANP32B', 'score': 0.39}]
chr9 GH09I098034 98034491 98038000 1.01 [{'connected_gene': 'NANS', 'score': 24.64}, {'connected_gene': 'TRMO', 'score': 17.67}, {'connected_gene': 'ENSG00000236896', 'score': 12.07}, {'connected_gene': 'ANP32B', 'score': 12.06}, {'connected_gene': 'ENSG00000201830', 'score': 11.87}, {'connected_gene': 'TBC1D2', 'score': 10.52}, {'connected_gene': 'TSTD2', 'score': 4.6}, {'connected_gene': 'RNU6-918P', 'score': 0.77}]
chr9 GH09I098046 98046801 98047000 0.6 [{'connected_gene': 'NANS', 'score': 18.66}, {'connected_gene': 'ENSG00000236896', 'score': 11.65}, {'connected_gene': 'ANP32B', 'score': 11.64}, {'connected_gene': 'TBC1D2', 'score': 10.76}, {'connected_gene': 'TRIM14', 'score': 9.96}, {'connected_gene': 'RNU6-918P', 'score': 0.39}]
chr9 GH09I097990 97989432 97991108 0.85 [{'connected_gene': 'NANS', 'score': 6.01}, {'connected_gene': 'ENSG00000236896', 'score': 0.77}, {'connected_gene': 'ANP32B', 'score': 0.44}, {'connected_gene': 'GC09P098033', 'score': 0.26}]
chr9 GH09I097918 97918311 97924164 2.6 [{'connected_gene': 'TRMO', 'score': 591.45}, {'connected_gene': 'NCBP1', 'score': 52.35}, {'connected_gene': 'TSTD2', 'score': 39.53}, {'connected_gene': 'ZNF322P1', 'score': 24.45}, {'connected_gene': 'NUTM2G', 'score': 23.16}, {'connected_gene': 'MFSD14C', 'score': 22.18}, {'connected_gene': 'ZNF782', 'score': 21.82}, {'connected_gene': 'ANP32B', 'score': 12.67}, {'connected_gene': 'ENSG00000236896', 'score': 12.67}, {'connected_gene': 'HEMGN', 'score': 12.64}, {'connected_gene': 'RNU6-918P', 'score': 12.0}, {'connected_gene': 'ENSG00000254633', 'score': 12.0}, {'connected_gene': 'XPA', 'score': 11.72}, {'connected_gene': 'TRIM14', 'score': 1.76}, {'connected_gene': 'ENSG00000201830', 'score': 0.44}]
chr9 GH09I097929 97929371 97932503 0.58 [{'connected_gene': 'TRMO', 'score': 21.05}, {'connected_gene': 'RNU6-918P', 'score': 12.01}, {'connected_gene': 'ANP32B', 'score': 11.86}, {'connected_gene': 'ENSG00000236896', 'score': 11.85}, {'connected_gene': 'TBC1D2', 'score': 10.41}, {'connected_gene': 'HEMGN', 'score': 0.39}]
chr9 GH09I097925 97925324 97926417 0.52 [{'connected_gene': 'TRMO', 'score': 21.42}, {'connected_gene': 'ANP32B', 'score': 12.5}, {'connected_gene': 'ENSG00000236896', 'score': 12.49}, {'connected_gene': 'RNU6-918P', 'score': 12.01}, {'connected_gene': 'TRIM14', 'score': 10.52}, {'connected_gene': 'TBC1D2', 'score': 10.41}, {'connected_gene': 'NANS', 'score': 6.36}, {'connected_gene': 'HEMGN', 'score': 0.37}]
chr9 GH09I097997 97997501 97998493 0.31 [{'connected_gene': 'RNU6-918P', 'score': 12.46}, {'connected_gene': 'NANS', 'score': 7.24}, {'connected_gene': 'ANP32B', 'score': 0.39}, {'connected_gene': 'ENSG00000236896', 'score': 0.39}, {'connected_gene': 'GC09P098033', 'score': 0.29}]
chr9 GH09I098001 98001328 98003394 0.31 [{'connected_gene': 'RNU6-918P', 'score': 13.15}, {'connected_gene': 'TRMO', 'score': 5.85}, {'connected_gene': 'ENSG00000236896', 'score': 0.39}, {'connected_gene': 'ANP32B', 'score': 0.37}, {'connected_gene': 'GC09P098033', 'score': 0.31}]
chr9 GH09I098003 98003446 98004374 0.2 [{'connected_gene': 'RNU6-918P', 'score': 13.15}, {'connected_gene': 'ENSG00000236896', 'score': 0.37}, {'connected_gene': 'ANP32B', 'score': 0.34}, {'connected_gene': 'GC09P098033', 'score': 0.31}]
chr9 GH09I097924 97924519 97924865 0.72 [{'connected_gene': 'ANP32B', 'score': 12.5}, {'connected_gene': 'ENSG00000236896', 'score': 12.49}, {'connected_gene': 'TRIM14', 'score': 10.52}, {'connected_gene': 'TRMO', 'score': 6.8}, {'connected_gene': 'HEMGN', 'score': 0.34}]
chr9 GH09I097954 97954619 97955407 1.05 [{'connected_gene': 'ANP32B', 'score': 12.65}, {'connected_gene': 'ENSG00000236896', 'score': 12.63}, {'connected_gene': 'GC09P097960', 'score': 0.77}, {'connected_gene': 'PIR49291', 'score': 0.77}, {'connected_gene': 'HEMGN', 'score': 0.39}]
chr9 GH09I097979 97979663 97987948 2.52 [{'connected_gene': 'ANP32B', 'score': 550.77}, {'connected_gene': 'NANS', 'score': 26.5}, {'connected_gene': 'NCBP1', 'score': 23.23}, {'connected_gene': 'MFSD14C', 'score': 22.18}, {'connected_gene': 'ZNF782', 'score': 21.82}, {'connected_gene': 'TSTD2', 'score': 16.66}, {'connected_gene': 'ZNF322P1', 'score': 13.55}, {'connected_gene': 'ENSG00000254633', 'score': 12.0}, {'connected_gene': 'XPA', 'score': 10.81}, {'connected_gene': 'TRMO', 'score': 6.22}, {'connected_gene': 'TRIM14', 'score': 4.69}, {'connected_gene': 'ENSG00000236896', 'score': 0.77}]
chr9 GH09I097988 97988841 97989409 0.38 [{'connected_gene': 'ENSG00000236896', 'score': 550.77}, {'connected_gene': 'TSTD2', 'score': 5.04}, {'connected_gene': 'ANP32B', 'score': 0.44}, {'connected_gene': 'GC09P098033', 'score': 0.26}]
chr9 GH09I098031 98031844 98032728 0.38 [{'connected_gene': 'GC09P098033', 'score': 550.77}, {'connected_gene': 'RNU6-918P', 'score': 550.77}, {'connected_gene': 'ENSG00000236896', 'score': 12.09}, {'connected_gene': 'ANP32B', 'score': 12.07}, {'connected_gene': 'TRMO', 'score': 11.88}, {'connected_gene': 'ENSG00000201830', 'score': 11.87}, {'connected_gene': 'TBC1D2', 'score': 10.51}, {'connected_gene': 'NANS', 'score': 0.34}]
chr9 GH09I098009 98009352 98011288 0.77 [{'connected_gene': 'ENSG00000236896', 'score': 12.1}, {'connected_gene': 'ANP32B', 'score': 12.07}, {'connected_gene': 'HEMGN', 'score': 11.04}, {'connected_gene': 'TBC1D2', 'score': 9.78}, {'connected_gene': 'TRIM14', 'score': 9.7}, {'connected_gene': 'GC09P098033', 'score': 0.34}]
chr9 GH09I098047 98047139 98047288 0.72 [{'connected_gene': 'ENSG00000236896', 'score': 11.65}, {'connected_gene': 'ANP32B', 'score': 11.64}, {'connected_gene': 'TBC1D2', 'score': 10.76}, {'connected_gene': 'TRIM14', 'score': 9.96}, {'connected_gene': 'NANS', 'score': 0.44}, {'connected_gene': 'RNU6-918P', 'score': 0.39}]
chr9 GH09I097958 97958620 97959616 0.93 [{'connected_gene': 'GC09P097960', 'score': 550.77}, {'connected_gene': 'PIR49291', 'score': 550.77}, {'connected_gene': 'ANP32B', 'score': 12.68}, {'connected_gene': 'ENSG00000236896', 'score': 12.65}, {'connected_gene': 'TRMO', 'score': 6.14}, {'connected_gene': 'HEMGN', 'score': 0.39}]
chr9 GH09I097960 97960917 97961392 0.99 [{'connected_gene': 'GC09P097960', 'score': 550.77}, {'connected_gene': 'PIR49291', 'score': 550.77}, {'connected_gene': 'ENSG00000236896', 'score': 22.34}, {'connected_gene': 'ANP32B', 'score': 11.73}, {'connected_gene': 'RNU6-918P', 'score': 10.98}, {'connected_gene': 'TBC1D2', 'score': 9.24}]
chr9 GH09I097993 97992201 97992400 0.58 [{'connected_gene': 'ENSG00000236896', 'score': 0.77}, {'connected_gene': 'ANP32B', 'score': 0.44}, {'connected_gene': 'GC09P098033', 'score': 0.28}]
chr9 GH09I097992 97992801 97993768 0.63 [{'connected_gene': 'ENSG00000236896', 'score': 0.44}, {'connected_gene': 'ANP32B', 'score': 0.39}, {'connected_gene': 'GC09P098033', 'score': 0.28}]
chr9 GH09I097989 97988401 97988600 0.4 [{'connected_gene': 'ENSG00000236896', 'score': 550.77}, {'connected_gene': 'ANP32B', 'score': 0.44}, {'connected_gene': 'GC09P098033', 'score': 0.26}]