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
ENST00000260227 [[102391238, 102391535], [102393970, 102394132], [102395666, 102395795], [102398254, 102398403], [102398487, 102398714], [102401323, 102401484]] [[102391506, 102391535], [102393970, 102394132], [102395666, 102395795], [102398254, 102398403], [102398487, 102398714], [102401323, 102401431]]
ENST00000533366 [[102395006, 102395795], [102398254, 102398403], [102398487, 102398714], [102401323, 102401481]] None
ENST00000531200 [[102397716, 102398403], [102398487, 102398714], [102401323, 102401478]] None
NM_002423 [[102391238, 102391535], [102393970, 102394132], [102395666, 102395795], [102398254, 102398403], [102398487, 102398714], [102401323, 102401484]] [[102391506, 102391535], [102393970, 102394132], [102395666, 102395795], [102398254, 102398403], [102398487, 102398714], [102401323, 102401431]]
Promoter
Chrom Start End Description
chr11 102401469 102401488 CAGE_peak_1_at_MMP7_5end
chr11 102401534 102401543 CAGE_peak_2_at_MMP7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I102759 102759919 102764066 1.22 [{'connected_gene': 'DYNC2H1', 'score': 24.68}, {'connected_gene': 'C11orf70', 'score': 12.51}, {'connected_gene': 'MMP1', 'score': 11.22}, {'connected_gene': 'MMP8', 'score': 11.11}, {'connected_gene': 'MMP3', 'score': 9.84}, {'connected_gene': 'MMP27', 'score': 6.0}, {'connected_gene': 'MMP7', 'score': 5.44}, {'connected_gene': 'BIRC2', 'score': 1.57}, {'connected_gene': 'ENSG00000225678', 'score': 0.44}, {'connected_gene': 'LOC100421658', 'score': 0.44}, {'connected_gene': 'WTAPP1', 'score': 0.37}]
chr11 GH11I102602 102602372 102604762 1.02 [{'connected_gene': 'MMP20', 'score': 10.37}, {'connected_gene': 'BIRC2', 'score': 10.25}, {'connected_gene': 'MMP7', 'score': 10.0}, {'connected_gene': 'ENSG00000256916', 'score': 0.77}]
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 GH11I102593 102593110 102593219 0.6 [{'connected_gene': 'MMP7', 'score': 11.13}, {'connected_gene': 'MMP20', 'score': 10.27}, {'connected_gene': 'BIRC2', 'score': 10.11}, {'connected_gene': 'MMP8', 'score': 9.14}, {'connected_gene': 'ENSG00000256916', 'score': 0.39}]
chr11 GH11I102555 102555109 102555639 0.74 [{'connected_gene': 'MMP7', 'score': 12.64}, {'connected_gene': 'ENSG00000256916', 'score': 10.31}, {'connected_gene': 'MMP20', 'score': 10.29}, {'connected_gene': 'ANGPTL5', 'score': 4.48}]
chr11 GH11I102563 102563366 102565380 1.14 [{'connected_gene': 'MMP7', 'score': 17.61}, {'connected_gene': 'ENSG00000256916', 'score': 11.19}, {'connected_gene': 'MMP20', 'score': 11.14}, {'connected_gene': 'ANGPTL5', 'score': 4.99}]
chr11 GH11I102551 102551630 102553540 0.86 [{'connected_gene': 'MMP7', 'score': 18.27}, {'connected_gene': 'ENSG00000256916', 'score': 11.7}, {'connected_gene': 'MMP20', 'score': 11.66}, {'connected_gene': 'ANGPTL5', 'score': 4.85}]
chr11 GH11I102596 102596067 102597339 0.49 [{'connected_gene': 'MMP7', 'score': 10.53}, {'connected_gene': 'MMP20', 'score': 10.53}, {'connected_gene': 'TMEM123', 'score': 10.38}, {'connected_gene': 'LOC101928424', 'score': 10.36}, {'connected_gene': 'BIRC2', 'score': 10.1}, {'connected_gene': 'ENSG00000256916', 'score': 0.39}]
chr11 GH11I102553 102553660 102554599 1.01 [{'connected_gene': 'MMP7', 'score': 18.27}, {'connected_gene': 'ENSG00000256916', 'score': 11.03}, {'connected_gene': 'MMP20', 'score': 10.99}]
chr11 GH11I102615 102615285 102615800 0.94 [{'connected_gene': 'MMP7', 'score': 10.45}, {'connected_gene': 'MMP20', 'score': 0.44}, {'connected_gene': 'ENSG00000256916', 'score': 0.44}]
chr11 GH11I102576 102576281 102577142 0.59 [{'connected_gene': 'MMP7', 'score': 11.78}, {'connected_gene': 'ENSG00000256916', 'score': 0.29}, {'connected_gene': 'MMP20', 'score': 0.25}]
chr11 GH11I102577 102577270 102577419 0.6 [{'connected_gene': 'MMP7', 'score': 11.78}, {'connected_gene': 'ENSG00000256916', 'score': 0.31}, {'connected_gene': 'MMP20', 'score': 0.25}]
chr11 GH11I102614 102614650 102614759 0.43 [{'connected_gene': 'MMP7', 'score': 10.45}, {'connected_gene': 'ENSG00000256916', 'score': 0.44}, {'connected_gene': 'MMP20', 'score': 0.39}]
chr11 GH11I102612 102612605 102614410 1.02 [{'connected_gene': 'MMP7', 'score': 11.14}, {'connected_gene': 'BIRC2', 'score': 10.68}, {'connected_gene': 'ENSG00000256916', 'score': 0.44}, {'connected_gene': 'MMP20', 'score': 0.39}]
chr11 GH11I102530 102530401 102531439 1.24 [{'connected_gene': 'MMP7', 'score': 561.49}, {'connected_gene': 'ENSG00000256916', 'score': 0.18}]
chr11 GH11I102311 102311053 102324271 2.74 [{'connected_gene': 'BIRC3', 'score': 573.47}, {'connected_gene': 'BIRC2', 'score': 32.93}, {'connected_gene': 'ENSG00000256916', 'score': 10.4}, {'connected_gene': 'MMP20', 'score': 10.4}, {'connected_gene': 'MMP7', 'score': 9.82}, {'connected_gene': 'TMEM123', 'score': 2.02}, {'connected_gene': 'RNU6-952P', 'score': 0.77}]
chr11 GH11I102592 102592260 102592308 0.22 [{'connected_gene': 'BIRC2', 'score': 13.72}, {'connected_gene': 'MMP20', 'score': 12.11}, {'connected_gene': 'MMP7', 'score': 11.13}, {'connected_gene': 'MMP8', 'score': 9.14}, {'connected_gene': 'BIRC3', 'score': 1.62}, {'connected_gene': 'ENSG00000256916', 'score': 0.39}]
chr11 GH11I102278 102278969 102281501 1.3 [{'connected_gene': 'BIRC2', 'score': 11.21}, {'connected_gene': 'ENSG00000254422', 'score': 10.83}, {'connected_gene': 'ENSG00000256916', 'score': 10.21}, {'connected_gene': 'MMP20', 'score': 10.21}, {'connected_gene': 'MMP7', 'score': 10.13}, {'connected_gene': 'BIRC3', 'score': 8.98}, {'connected_gene': 'LOC105369460', 'score': 0.39}, {'connected_gene': 'RPS6P17', 'score': 0.39}]
chr11 GH11I102589 102589075 102589362 1.01 [{'connected_gene': 'BIRC2', 'score': 15.01}, {'connected_gene': 'MMP7', 'score': 11.14}, {'connected_gene': 'MMP20', 'score': 10.25}, {'connected_gene': 'MMP8', 'score': 9.14}, {'connected_gene': 'BIRC3', 'score': 6.86}, {'connected_gene': 'TMEM123', 'score': 1.36}, {'connected_gene': 'ENSG00000256916', 'score': 0.37}]
chr11 GH11I102597 102597665 102601907 1.07 [{'connected_gene': 'TMEM123', 'score': 10.69}, {'connected_gene': 'MMP7', 'score': 10.53}, {'connected_gene': 'MMP20', 'score': 10.53}, {'connected_gene': 'LOC101928424', 'score': 10.36}, {'connected_gene': 'BIRC2', 'score': 10.25}, {'connected_gene': 'ENSG00000256916', 'score': 0.44}]
chr11 GH11I102360 102360749 102362586 0.87 [{'connected_gene': 'TMEM123', 'score': 19.64}, {'connected_gene': 'LOC102723838', 'score': 10.99}, {'connected_gene': 'LOC101928424', 'score': 10.89}, {'connected_gene': 'MMP7', 'score': 10.25}, {'connected_gene': 'ENSG00000256916', 'score': 10.12}, {'connected_gene': 'MMP20', 'score': 10.12}, {'connected_gene': 'BIRC2', 'score': 4.41}, {'connected_gene': 'BIRC3', 'score': 2.44}, {'connected_gene': 'GC11P102396', 'score': 0.29}]
chr11 GH11I102384 102384243 102387384 0.82 [{'connected_gene': 'TMEM123', 'score': 19.5}, {'connected_gene': 'LOC102723838', 'score': 11.69}, {'connected_gene': 'LOC101928424', 'score': 11.69}, {'connected_gene': 'BIRC2', 'score': 11.24}, {'connected_gene': 'ENSG00000256916', 'score': 10.89}, {'connected_gene': 'MMP20', 'score': 10.89}, {'connected_gene': 'MMP7', 'score': 10.78}, {'connected_gene': 'GC11P102396', 'score': 0.39}]
chr11 GH11I102493 102493486 102496000 1.32 [{'connected_gene': 'TMEM123', 'score': 17.63}, {'connected_gene': 'LOC101928424', 'score': 17.26}, {'connected_gene': 'ENSG00000256916', 'score': 11.2}, {'connected_gene': 'MMP20', 'score': 11.18}, {'connected_gene': 'MMP7', 'score': 11.11}, {'connected_gene': 'BIRC2', 'score': 10.96}, {'connected_gene': 'LOC102723838', 'score': 0.31}]
chr11 GH11I102445 102445953 102457159 2.78 [{'connected_gene': 'TMEM123', 'score': 561.31}, {'connected_gene': 'LOC101928424', 'score': 550.77}, {'connected_gene': 'BIRC2', 'score': 31.68}, {'connected_gene': 'MMP7', 'score': 10.04}, {'connected_gene': 'ENSG00000256916', 'score': 9.81}, {'connected_gene': 'MMP20', 'score': 9.8}, {'connected_gene': 'BIRC3', 'score': 2.07}, {'connected_gene': 'GC11P102396', 'score': 0.22}]
chr11 GH11I102382 102382570 102382719 0.2 [{'connected_gene': 'TMEM123', 'score': 19.26}, {'connected_gene': 'LOC101928424', 'score': 11.47}, {'connected_gene': 'BIRC2', 'score': 11.18}, {'connected_gene': 'MMP7', 'score': 10.79}, {'connected_gene': 'ENSG00000256916', 'score': 10.6}, {'connected_gene': 'MMP20', 'score': 10.6}, {'connected_gene': 'GC11P102396', 'score': 0.39}]
chr11 GH11I102404 102404292 102409017 0.43 [{'connected_gene': 'TMEM123', 'score': 21.47}, {'connected_gene': 'LOC101928424', 'score': 11.97}, {'connected_gene': 'BIRC2', 'score': 10.99}, {'connected_gene': 'MMP7', 'score': 10.36}, {'connected_gene': 'ENSG00000256916', 'score': 10.25}, {'connected_gene': 'MMP20', 'score': 10.24}, {'connected_gene': 'GC11P102396', 'score': 0.39}]
chr11 GH11I102374 102374801 102375400 0.65 [{'connected_gene': 'TMEM123', 'score': 20.08}, {'connected_gene': 'LOC101928424', 'score': 11.73}, {'connected_gene': 'BIRC2', 'score': 11.41}, {'connected_gene': 'MMP7', 'score': 10.38}, {'connected_gene': 'GC11P102396', 'score': 0.34}]
chr11 GH11I102487 102487766 102490129 0.66 [{'connected_gene': 'LOC102723838', 'score': 13.01}, {'connected_gene': 'LOC101928424', 'score': 12.44}, {'connected_gene': 'ENSG00000256916', 'score': 10.81}, {'connected_gene': 'MMP20', 'score': 10.8}, {'connected_gene': 'BIRC2', 'score': 10.78}, {'connected_gene': 'MMP7', 'score': 10.62}, {'connected_gene': 'TMEM123', 'score': 5.1}]
chr11 GH11I102474 102474044 102474661 0.84 [{'connected_gene': 'LOC101928424', 'score': 12.52}, {'connected_gene': 'BIRC2', 'score': 11.16}, {'connected_gene': 'ENSG00000256916', 'score': 10.25}, {'connected_gene': 'MMP20', 'score': 10.23}, {'connected_gene': 'MMP7', 'score': 10.18}, {'connected_gene': 'TMEM123', 'score': 5.57}, {'connected_gene': 'LOC105369461', 'score': 0.44}, {'connected_gene': 'LOC102723838', 'score': 0.44}]
chr11 GH11I102475 102474790 102474939 0.88 [{'connected_gene': 'LOC101928424', 'score': 12.52}, {'connected_gene': 'BIRC2', 'score': 11.16}, {'connected_gene': 'ENSG00000256916', 'score': 10.25}, {'connected_gene': 'MMP20', 'score': 10.23}, {'connected_gene': 'MMP7', 'score': 10.18}, {'connected_gene': 'TMEM123', 'score': 0.77}, {'connected_gene': 'LOC105369461', 'score': 0.44}, {'connected_gene': 'LOC102723838', 'score': 0.44}]
chr11 GH11I102473 102473610 102473779 0.63 [{'connected_gene': 'LOC101928424', 'score': 12.52}, {'connected_gene': 'BIRC2', 'score': 11.16}, {'connected_gene': 'ENSG00000256916', 'score': 10.25}, {'connected_gene': 'MMP20', 'score': 10.23}, {'connected_gene': 'MMP7', 'score': 10.18}, {'connected_gene': 'TMEM123', 'score': 0.77}, {'connected_gene': 'LOC105369461', 'score': 0.44}, {'connected_gene': 'LOC102723838', 'score': 0.44}]
chr11 GH11I102476 102476239 102477985 1.31 [{'connected_gene': 'LOC101928424', 'score': 12.67}, {'connected_gene': 'BIRC2', 'score': 11.16}, {'connected_gene': 'MMP7', 'score': 10.65}, {'connected_gene': 'MMP20', 'score': 10.56}, {'connected_gene': 'ENSG00000256916', 'score': 10.26}, {'connected_gene': 'MMP1', 'score': 9.41}, {'connected_gene': 'LOC102723838', 'score': 0.44}, {'connected_gene': 'TMEM123', 'score': 0.44}, {'connected_gene': 'LOC105369461', 'score': 0.39}]
chr11 GH11I102383 102383950 102384099 0.31 [{'connected_gene': 'LOC101928424', 'score': 11.49}, {'connected_gene': 'TMEM123', 'score': 11.45}, {'connected_gene': 'BIRC2', 'score': 11.18}, {'connected_gene': 'MMP7', 'score': 10.79}, {'connected_gene': 'ENSG00000256916', 'score': 10.6}, {'connected_gene': 'MMP20', 'score': 10.6}, {'connected_gene': 'GC11P102396', 'score': 0.39}]
chr11 GH11I102580 102580197 102580523 0.92 [{'connected_gene': 'ENSG00000256916', 'score': 12.3}, {'connected_gene': 'MMP20', 'score': 12.25}, {'connected_gene': 'MMP7', 'score': 10.51}, {'connected_gene': 'BIRC2', 'score': 8.34}, {'connected_gene': 'BIRC3', 'score': 2.06}, {'connected_gene': 'TMEM123', 'score': 1.65}]
chr11 GH11I102545 102545462 102547705 1.2 [{'connected_gene': 'ENSG00000256916', 'score': 11.67}, {'connected_gene': 'MMP20', 'score': 11.65}, {'connected_gene': 'MMP7', 'score': 4.82}]
chr11 GH11I102604 102604970 102605139 0.2 [{'connected_gene': 'ENSG00000256916', 'score': 550.77}, {'connected_gene': 'MMP20', 'score': 0.34}, {'connected_gene': 'MMP7', 'score': 0.19}]
chr11 GH11I102303 102303576 102308264 1.47 [{'connected_gene': 'ENSG00000270868', 'score': 550.77}, {'connected_gene': 'BIRC3', 'score': 19.52}, {'connected_gene': 'BIRC2', 'score': 12.41}, {'connected_gene': 'MMP7', 'score': 10.34}, {'connected_gene': 'RPS6P17', 'score': 0.39}]

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