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
ENST00000279441 [[102641233, 102641624], [102642742, 102642846], [102643577, 102643737], [102645918, 102646052], [102647010, 102647155], [102647342, 102647507], [102649354, 102649480], [102649943, 102650092], [102650234, 102650476], [102651217, 102651359]] [[102641523, 102641624], [102642742, 102642846], [102643577, 102643737], [102645918, 102646052], [102647010, 102647155], [102647342, 102647507], [102649354, 102649480], [102649943, 102650092], [102650234, 102650476], [102651217, 102651322]]
ENST00000539681 [[102649399, 102649447], [102649943, 102650092], [102650234, 102650476], [102651217, 102651359]] [[102649399, 102649447], [102649943, 102650092], [102650234, 102650476], [102651217, 102651322]]
NM_002425 [[102641232, 102641624], [102642742, 102642846], [102643577, 102643737], [102645918, 102646052], [102647010, 102647155], [102647342, 102647507], [102649354, 102649480], [102649943, 102650092], [102650234, 102650476], [102651217, 102651359]] [[102641523, 102641624], [102642742, 102642846], [102643577, 102643737], [102645918, 102646052], [102647010, 102647155], [102647342, 102647507], [102649354, 102649480], [102649943, 102650092], [102650234, 102650476], [102651217, 102651322]]
Promoter
Chrom Start End Description
chr11 102651279 102651288 CAGE_peak_2_at_MMP10_5end
chr11 102651343 102651365 CAGE_peak_1_at_MMP10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I102729 102729365 102731309 0.66 [{'connected_gene': 'MMP27', 'score': 17.88}, {'connected_gene': 'BIRC2', 'score': 11.61}, {'connected_gene': 'MMP10', 'score': 11.07}, {'connected_gene': 'MMP1', 'score': 10.47}, {'connected_gene': 'MMP3', 'score': 9.92}, {'connected_gene': 'RNU7-159P', 'score': 9.49}, {'connected_gene': 'MMP8', 'score': 0.77}, {'connected_gene': 'WTAPP1', 'score': 0.37}]
chr11 GH11I102733 102733370 102733519 0.66 [{'connected_gene': 'MMP10', 'score': 11.08}, {'connected_gene': 'MMP27', 'score': 10.56}, {'connected_gene': 'MMP1', 'score': 10.48}, {'connected_gene': 'MMP3', 'score': 9.92}, {'connected_gene': 'RNU7-159P', 'score': 9.49}, {'connected_gene': 'MMP8', 'score': 0.44}, {'connected_gene': 'WTAPP1', 'score': 0.39}]
chr11 GH11I102780 102780319 102781309 1.26 [{'connected_gene': 'MMP10', 'score': 550.77}, {'connected_gene': 'MMP3', 'score': 9.68}, {'connected_gene': 'MMP1', 'score': 4.87}, {'connected_gene': 'WTAPP1', 'score': 0.29}]
chr11 GH11I102727 102727401 102728851 0.89 [{'connected_gene': 'MMP8', 'score': 550.77}, {'connected_gene': 'MMP27', 'score': 19.15}, {'connected_gene': 'MMP10', 'score': 11.07}, {'connected_gene': 'MMP1', 'score': 10.46}, {'connected_gene': 'MMP3', 'score': 9.91}, {'connected_gene': 'RNU7-159P', 'score': 9.49}, {'connected_gene': 'BIRC2', 'score': 8.01}, {'connected_gene': 'TMEM123', 'score': 1.75}, {'connected_gene': 'BIRC3', 'score': 1.47}, {'connected_gene': 'WTAPP1', 'score': 0.37}]
chr11 GH11I102558 102558892 102562276 1.39 [{'connected_gene': 'MMP7', 'score': 19.3}, {'connected_gene': 'MMP20', 'score': 13.11}, {'connected_gene': 'ENSG00000256916', 'score': 11.17}, {'connected_gene': 'BIRC2', 'score': 10.59}, {'connected_gene': 'MMP10', 'score': 4.61}, {'connected_gene': 'ANGPTL5', 'score': 4.11}, {'connected_gene': 'BIRC3', 'score': 1.85}]
chr11 GH11I102783 102783078 102784554 0.56 [{'connected_gene': 'MMP3', 'score': 10.33}, {'connected_gene': 'MMP13', 'score': 9.42}, {'connected_gene': 'MMP10', 'score': 0.77}, {'connected_gene': 'MMP1', 'score': 0.39}, {'connected_gene': 'WTAPP1', 'score': 0.28}]
chr11 GH11I102794 102794401 102794600 0.56 [{'connected_gene': 'MMP1', 'score': 0.77}, {'connected_gene': 'MMP10', 'score': 0.39}, {'connected_gene': 'WTAPP1', 'score': 0.25}]