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
ENST00000497864 [[52005441, 52005833], [52011886, 52012098], [52012274, 52012390], [52014408, 52014490]] [[52005569, 52005833], [52011886, 52012098], [52012274, 52012390], [52014408, 52014490]]
ENST00000494478 [[52007699, 52007921], [52011886, 52012098], [52012274, 52012390], [52014408, 52014484]] [[52007867, 52007921], [52011886, 52012098], [52012274, 52012390], [52014408, 52014484]]
ENST00000273596 [[52009083, 52009220], [52011886, 52012098], [52012274, 52012390], [52014408, 52014644], [52014851, 52015212]] [[52009151, 52009220], [52011886, 52012098], [52012274, 52012390], [52014408, 52014644], [52014851, 52015034]]
ENST00000474575 [[52009117, 52009220], [52011886, 52012098], [52012274, 52013023]] None
ENST00000491470 [[52009118, 52009220], [52011886, 52012098], [52014851, 52015211]] [[52009151, 52009220], [52011886, 52012098], [52014851, 52014945]]
NM_015407 [[52009041, 52009220], [52011886, 52012098], [52012274, 52012390], [52014408, 52014644], [52014851, 52015216]] [[52009151, 52009220], [52011886, 52012098], [52012274, 52012390], [52014408, 52014644], [52014851, 52015034]]
Promoter
Chrom Start End Description
chr3 52007693 52007737 CAGE_peak_3_at_ABHD14A_5end
chr3 52009067 52009102 CAGE_peak_1_at_ABHD14A_5end
chr3 52009110 52009147 CAGE_peak_2_at_ABHD14A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I051980 51980789 51987619 2.27 [{'connected_gene': 'ABHD14B', 'score': 550.77}, {'connected_gene': 'ACY1', 'score': 550.77}, {'connected_gene': 'GPR62', 'score': 15.16}, {'connected_gene': 'PARP3', 'score': 7.59}, {'connected_gene': 'RPL29', 'score': 5.93}, {'connected_gene': 'ABHD14A-ACY1', 'score': 0.44}, {'connected_gene': 'ABHD14A', 'score': 0.39}]
chr3 GH03I052027 52027849 52036352 0.83 [{'connected_gene': 'NEK4', 'score': 10.03}, {'connected_gene': 'PARP3', 'score': 4.64}, {'connected_gene': 'ABHD14A', 'score': 4.6}, {'connected_gene': 'ITIH4', 'score': 4.23}, {'connected_gene': 'SPCS1', 'score': 3.95}, {'connected_gene': 'LOC105377088', 'score': 0.77}, {'connected_gene': 'GC03P052016', 'score': 0.37}]
chr3 GH03I051973 51973200 51977017 2.24 [{'connected_gene': 'PCBP4', 'score': 550.77}, {'connected_gene': 'ABHD14A-ACY1', 'score': 550.77}, {'connected_gene': 'ABHD14A', 'score': 550.77}, {'connected_gene': 'ENSG00000272762', 'score': 550.77}, {'connected_gene': 'PARP3', 'score': 7.64}, {'connected_gene': 'NT5DC2', 'score': 5.33}, {'connected_gene': 'ACY1', 'score': 0.44}, {'connected_gene': 'ABHD14B', 'score': 0.44}]
chr3 GH03I051966 51966064 51969836 2.02 [{'connected_gene': 'PCBP4', 'score': 550.44}, {'connected_gene': 'PARP3', 'score': 8.19}, {'connected_gene': 'GC03P051963', 'score': 0.77}, {'connected_gene': 'ABHD14A', 'score': 0.77}, {'connected_gene': 'ENSG00000272762', 'score': 0.44}, {'connected_gene': 'ABHD14B', 'score': 0.37}]
chr3 GH03I052108 52108038 52110936 1.21 [{'connected_gene': 'DUSP7', 'score': 12.9}, {'connected_gene': 'ABHD14B', 'score': 11.11}, {'connected_gene': 'PCBP4', 'score': 11.1}, {'connected_gene': 'ABHD14A', 'score': 11.1}, {'connected_gene': 'ABHD14A-ACY1', 'score': 11.1}, {'connected_gene': 'GPR62', 'score': 10.44}, {'connected_gene': 'WDR82', 'score': 9.64}, {'connected_gene': 'GLYCTK', 'score': 9.64}, {'connected_gene': 'MIR135A1', 'score': 9.63}, {'connected_gene': 'GLYCTK-AS1', 'score': 9.63}, {'connected_gene': 'POC1A', 'score': 5.0}, {'connected_gene': 'LINC00696', 'score': 0.26}]
chr3 GH03I051977 51977525 51977674 0.2 [{'connected_gene': 'ABHD14A-ACY1', 'score': 0.77}, {'connected_gene': 'ABHD14B', 'score': 0.44}, {'connected_gene': 'ACY1', 'score': 0.44}, {'connected_gene': 'ABHD14A', 'score': 0.44}]
chr3 GH03I051940 51940694 51943929 2.05 [{'connected_gene': 'PARP3', 'score': 559.63}, {'connected_gene': 'RRP9', 'score': 550.77}, {'connected_gene': 'ABHD14A', 'score': 10.22}, {'connected_gene': 'RPL29', 'score': 7.02}, {'connected_gene': 'ENSG00000280422', 'score': 0.39}]
chr3 GH03I051794 51794265 51794474 0.2 [{'connected_gene': 'GC03P051793', 'score': 550.77}, {'connected_gene': 'IQCF3', 'score': 11.34}, {'connected_gene': 'IQCF4', 'score': 11.34}, {'connected_gene': 'IQCF5', 'score': 10.34}, {'connected_gene': 'ABHD14A-ACY1', 'score': 9.64}, {'connected_gene': 'ABHD14B', 'score': 9.63}, {'connected_gene': 'PCBP4', 'score': 9.44}, {'connected_gene': 'ABHD14A', 'score': 9.44}, {'connected_gene': 'LOC105377087', 'score': 0.28}]