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
ENST00000367651 [[139693392, 139695089], [139695549, 139695757]] [[139694268, 139695081]]
ENST00000537332 [[139693395, 139695089], [139695268, 139695350]] [[139694268, 139695081]]
ENST00000536159 [[139693395, 139695089], [139695400, 139695499]] [[139694268, 139695081]]
NM_001168389 [[139693391, 139695089], [139695268, 139695350]] [[139694268, 139695089], [139695268, 139695275]]
NM_001168388 [[139693391, 139695089], [139695400, 139695499]] [[139694268, 139695081]]
NM_006079 [[139693391, 139695089], [139695549, 139695787]] [[139694268, 139695081]]
Promoter
Chrom Start End Description
chr6 139694564 139694581 CAGE_peak_13_at_CITED2_5end
chr6 139694678 139694744 CAGE_peak_4_at_CITED2_5end
chr6 139694819 139694929 CAGE_peak_3_at_CITED2_5end
chr6 139694931 139695001 CAGE_peak_2_at_CITED2_5end
chr6 139695015 139695033 CAGE_peak_8_at_CITED2_5end
chr6 139695036 139695053 CAGE_peak_6_at_CITED2_5end
chr6 139695061 139695096 CAGE_peak_7_at_CITED2_5end
chr6 139695775 139695795 CAGE_peak_1_at_CITED2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I139443 139443461 139450380 1.19 [{'connected_gene': 'LINC01625', 'score': 0.31}, {'connected_gene': 'CITED2', 'score': 0.19}]
chr6 GH06I139435 139435975 139437393 0.69 [{'connected_gene': 'LINC01625', 'score': 0.28}, {'connected_gene': 'CITED2', 'score': 0.21}]
chr6 GH06I139444 139443264 139443413 0.57 [{'connected_gene': 'LINC01625', 'score': 0.29}, {'connected_gene': 'CITED2', 'score': 0.2}]
chr6 GH06I139452 139452264 139452801 0.72 [{'connected_gene': 'LINC01625', 'score': 0.34}, {'connected_gene': 'CITED2', 'score': 0.18}]
chr6 GH06I139466 139466032 139466907 0.31 [{'connected_gene': 'LINC01625', 'score': 0.44}, {'connected_gene': 'CITED2', 'score': 0.16}]
chr6 GH06I139472 139472360 139475940 1.1 [{'connected_gene': 'LINC01625', 'score': 550.77}, {'connected_gene': 'CITED2', 'score': 0.15}]
chr6 GH06I139433 139433800 139434000 0.38 [{'connected_gene': 'LINC01625', 'score': 0.26}, {'connected_gene': 'CITED2', 'score': 0.22}]
chr6 GH06I139442 139442135 139442944 0.82 [{'connected_gene': 'ABRACL', 'score': 1.31}, {'connected_gene': 'LINC01625', 'score': 0.29}, {'connected_gene': 'CITED2', 'score': 0.2}]
chr6 GH06I139532 139532949 139535229 1.35 [{'connected_gene': 'HECA', 'score': 1.82}, {'connected_gene': 'CITED2', 'score': 1.52}, {'connected_gene': 'LOC105378023', 'score': 0.44}, {'connected_gene': 'LOC105378024', 'score': 0.39}]
chr6 GH06I138403 138403039 138406693 2.09 [{'connected_gene': 'HEBP2', 'score': 598.66}, {'connected_gene': 'MARCKSL1P2', 'score': 550.77}, {'connected_gene': 'GC06M138402', 'score': 550.77}, {'connected_gene': 'CITED2', 'score': 10.44}, {'connected_gene': 'PIR51373', 'score': 0.39}]
chr6 GH06I139289 139289364 139294020 2.15 [{'connected_gene': 'TXLNB', 'score': 607.69}, {'connected_gene': 'LOC102723690', 'score': 11.78}, {'connected_gene': 'CITED2', 'score': 10.11}, {'connected_gene': 'HECA', 'score': 8.48}, {'connected_gene': 'REPS1', 'score': 2.15}, {'connected_gene': 'ABRACL', 'score': 1.58}, {'connected_gene': 'ENSG00000272446', 'score': 0.39}]
chr6 GH06I139585 139585602 139591400 1.37 [{'connected_gene': 'CITED2', 'score': 11.79}, {'connected_gene': 'ATP5PBP6', 'score': 0.31}, {'connected_gene': 'LOC105378024', 'score': 0.26}]
chr6 GH06I139595 139595707 139599599 1.44 [{'connected_gene': 'CITED2', 'score': 5.19}, {'connected_gene': 'ATP5PBP6', 'score': 0.37}, {'connected_gene': 'LOC105378024', 'score': 0.23}]
chr6 GH06I139378 139378274 139379568 1.03 [{'connected_gene': 'CITED2', 'score': 0.77}, {'connected_gene': 'LINC01625', 'score': 0.15}]
chr6 GH06I139399 139399789 139399800 0.22 [{'connected_gene': 'CITED2', 'score': 0.31}, {'connected_gene': 'LINC01625', 'score': 0.19}]
chr6 GH06I139381 139381384 139381533 0.58 [{'connected_gene': 'CITED2', 'score': 0.44}, {'connected_gene': 'LINC01625', 'score': 0.16}]
chr6 GH06I139392 139392617 139393652 0.71 [{'connected_gene': 'CITED2', 'score': 0.37}, {'connected_gene': 'LINC01625', 'score': 0.18}]
chr6 GH06I139395 139395826 139396363 0.66 [{'connected_gene': 'CITED2', 'score': 0.34}, {'connected_gene': 'LINC01625', 'score': 0.18}]
chr6 GH06I139380 139380184 139380333 0.46 [{'connected_gene': 'CITED2', 'score': 0.44}, {'connected_gene': 'LINC01625', 'score': 0.16}]
chr6 GH06I139382 139382699 139385410 0.31 [{'connected_gene': 'CITED2', 'score': 0.44}, {'connected_gene': 'LINC01625', 'score': 0.16}]
chr6 GH06I139406 139406224 139409716 1.2 [{'connected_gene': 'CITED2', 'score': 0.29}, {'connected_gene': 'LINC01625', 'score': 0.2}]
chr6 GH06I139402 139402406 139404134 0.94 [{'connected_gene': 'CITED2', 'score': 0.31}, {'connected_gene': 'LINC01625', 'score': 0.19}]
chr6 GH06I138582 138582724 138582873 0.76 [{'connected_gene': 'CITED2', 'score': 11.74}, {'connected_gene': 'PERP', 'score': 11.16}, {'connected_gene': 'LOC100129577', 'score': 0.2}, {'connected_gene': 'NHSL1', 'score': 0.14}, {'connected_gene': 'ENSG00000274594', 'score': 0.13}]
chr6 GH06I139538 139538286 139541414 1.1 [{'connected_gene': 'CITED2', 'score': 3.41}, {'connected_gene': 'HECA', 'score': 1.51}, {'connected_gene': 'LOC105378024', 'score': 0.44}, {'connected_gene': 'LOC105378023', 'score': 0.39}]
chr6 GH06I139576 139576742 139579383 1.35 [{'connected_gene': 'CITED2', 'score': 12.7}, {'connected_gene': 'LOC105378024', 'score': 0.29}, {'connected_gene': 'ATP5PBP6', 'score': 0.28}]
chr6 GH06I139366 139366628 139377984 2.35 [{'connected_gene': 'CITED2', 'score': 550.77}, {'connected_gene': 'LOC102723690', 'score': 10.83}, {'connected_gene': 'REPS1', 'score': 10.02}, {'connected_gene': 'HEBP2', 'score': 4.93}, {'connected_gene': 'LOC100129844', 'score': 0.29}]
chr6 GH06I139743 139743041 139745515 1.36 [{'connected_gene': 'CITED2', 'score': 1.53}, {'connected_gene': 'FILNC1', 'score': 0.31}, {'connected_gene': 'GC06P139661', 'score': 0.18}]
chr6 GH06I139762 139762123 139767224 1.7 [{'connected_gene': 'CITED2', 'score': 1.27}, {'connected_gene': 'FILNC1', 'score': 0.44}, {'connected_gene': 'GC06P139661', 'score': 0.15}]
chr6 GH06I139707 139707552 139710060 1.15 [{'connected_gene': 'CITED2', 'score': 2.24}, {'connected_gene': 'GC06P139661', 'score': 0.25}, {'connected_gene': 'FILNC1', 'score': 0.21}]
chr6 GH06I139343 139343201 139343433 0.78 [{'connected_gene': 'LOC102723690', 'score': 11.22}, {'connected_gene': 'LOC100129844', 'score': 0.44}, {'connected_gene': 'CITED2', 'score': 0.29}]
chr6 GH06I139364 139364401 139364653 1 [{'connected_gene': 'ENSG00000231329', 'score': 12.17}, {'connected_gene': 'LOC102723690', 'score': 11.02}, {'connected_gene': 'HECA', 'score': 10.78}, {'connected_gene': 'CITED2', 'score': 0.39}, {'connected_gene': 'LOC100129844', 'score': 0.31}]
chr6 GH06I139349 139349544 139349713 0.46 [{'connected_gene': 'ENSG00000231329', 'score': 11.65}, {'connected_gene': 'LOC102723690', 'score': 10.8}, {'connected_gene': 'LOC100129844', 'score': 0.39}, {'connected_gene': 'CITED2', 'score': 0.31}]