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
ENST00000259456 [[100689072, 100689760], [100692316, 100693503], [100698452, 100698546], [100700339, 100700473], [100707049, 100707138]] [[100689665, 100689760], [100692316, 100693503], [100698452, 100698546], [100700339, 100700418]]
NM_197978 [[100689072, 100689760], [100692316, 100693503], [100698452, 100698546], [100700339, 100700675]] [[100689665, 100689760], [100692316, 100693503], [100698452, 100698546], [100700339, 100700418]]
NM_018437 [[100689072, 100689760], [100692316, 100693503], [100698452, 100698546], [100700339, 100700473], [100707049, 100707197]] [[100689665, 100689760], [100692316, 100693503], [100698452, 100698546], [100700339, 100700418]]
Promoter
Chrom Start End Description
chr9 100692863 100692880 CAGE_peak_8_at_HEMGN_5end
chr9 100692909 100692919 CAGE_peak_5_at_HEMGN_5end
chr9 100700439 100700486 CAGE_peak_1_at_HEMGN_5end
chr9 100700492 100700503 CAGE_peak_2_at_HEMGN_5end
chr9 100700640 100700651 CAGE_peak_3_at_HEMGN_5end
chr9 100707116 100707140 CAGE_peak_4_at_HEMGN_5end
chr9 100707149 100707156 CAGE_peak_11_at_HEMGN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I098070 98070871 98076600 1.29 [{'connected_gene': 'TRIM14', 'score': 20.43}, {'connected_gene': 'TBC1D2', 'score': 11.89}, {'connected_gene': 'RNU6-918P', 'score': 11.46}, {'connected_gene': 'CORO2A', 'score': 11.43}, {'connected_gene': 'TSTD2', 'score': 10.7}, {'connected_gene': 'HEMGN', 'score': 10.56}, {'connected_gene': 'NANS', 'score': 9.03}, {'connected_gene': 'PIR35853', 'score': 0.39}, {'connected_gene': 'GC09M098254', 'score': 0.39}, {'connected_gene': 'GC09M098251', 'score': 0.39}]
chr9 GH09I098117 98117444 98123006 2.54 [{'connected_gene': 'TRIM14', 'score': 559.71}, {'connected_gene': 'NCBP1', 'score': 56.4}, {'connected_gene': 'ZNF322P1', 'score': 38.92}, {'connected_gene': 'TSTD2', 'score': 38.4}, {'connected_gene': 'ENSG00000254633', 'score': 26.39}, {'connected_gene': 'CORO2A', 'score': 22.74}, {'connected_gene': 'ANKS6', 'score': 21.53}, {'connected_gene': 'CCDC180', 'score': 18.62}, {'connected_gene': 'LOC105376171', 'score': 12.1}, {'connected_gene': 'XPA', 'score': 11.9}, {'connected_gene': 'TBC1D2', 'score': 10.26}, {'connected_gene': 'TRMO', 'score': 5.09}, {'connected_gene': 'FOXE1', 'score': 5.03}, {'connected_gene': 'HEMGN', 'score': 1.26}, {'connected_gene': 'PIR36587', 'score': 0.39}]
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 GH09I097944 97944842 97944901 1.26 [{'connected_gene': 'HEMGN', 'score': 550.77}, {'connected_gene': 'TRMO', 'score': 0.34}]
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 GH09I098076 98076619 98076828 0.4 [{'connected_gene': 'TBC1D2', 'score': 11.89}, {'connected_gene': 'TRIM14', 'score': 11.56}, {'connected_gene': 'RNU6-918P', 'score': 11.46}, {'connected_gene': 'CORO2A', 'score': 11.43}, {'connected_gene': 'HEMGN', 'score': 10.55}, {'connected_gene': 'GC09M098254', 'score': 0.44}, {'connected_gene': 'GC09M098251', 'score': 0.44}, {'connected_gene': 'PIR35853', 'score': 0.44}, {'connected_gene': 'NANS', 'score': 0.34}]
chr9 GH09I098078 98078833 98079216 0.75 [{'connected_gene': 'TBC1D2', 'score': 11.89}, {'connected_gene': 'TRIM14', 'score': 11.56}, {'connected_gene': 'RNU6-918P', 'score': 11.45}, {'connected_gene': 'CORO2A', 'score': 11.44}, {'connected_gene': 'HEMGN', 'score': 10.55}, {'connected_gene': 'TRMO', 'score': 1.75}, {'connected_gene': 'PIR35853', 'score': 0.44}, {'connected_gene': 'GC09M098254', 'score': 0.44}, {'connected_gene': 'GC09M098251', 'score': 0.44}, {'connected_gene': 'NANS', 'score': 0.34}]
chr9 GH09I097909 97909895 97912672 0.51 [{'connected_gene': 'TRMO', 'score': 19.86}, {'connected_gene': 'HEMGN', 'score': 11.18}, {'connected_gene': 'FOXE1', 'score': 10.71}, {'connected_gene': 'TBC1D2', 'score': 10.54}, {'connected_gene': 'GC09P097916', 'score': 0.77}, {'connected_gene': 'GC09P097870', '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 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 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 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}]