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
ENST00000408996 [[114914338, 114916894], [114952014, 114952142], [114956131, 114956377], [114961297, 114961876]] [[114916245, 114916894], [114952014, 114952142], [114956131, 114956377], [114961297, 114961489]]
ENST00000427199 [[114914346, 114917012], [114937793, 114938176]] [[114916245, 114916953]]
ENST00000513729 [[114917426, 114917621], [114937793, 114937886]] None
NM_021649 [[114914192, 114917012], [114937793, 114938176]] [[114916245, 114916953]]
Promoter
Chrom Start End Description
chr5 114938090 114938226 CAGE_peak_1_at_TICAM2_5end,CAGE_peak_2_at_TMED7-TICAM2_5end
chr5 114961864 114961875 CAGE_peak_2_at_TICAM2_5end,CAGE_peak_4_at_TMED7_5end,CAGE_peak_5_at_TMED7-TICAM2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I115582 115582892 115584234 0.52 [{'connected_gene': 'FEM1C', 'score': 11.86}, {'connected_gene': 'CCDC112', 'score': 11.24}, {'connected_gene': 'LOC101927100', 'score': 8.05}, {'connected_gene': 'TICAM2', 'score': 6.59}, {'connected_gene': 'TMED7', 'score': 4.8}, {'connected_gene': 'GC05P115578', 'score': 0.77}, {'connected_gene': 'TMED7-TICAM2', 'score': 0.26}]
chr5 GH05I115540 115540600 115545690 2.31 [{'connected_gene': 'FEM1C', 'score': 555.82}, {'connected_gene': 'SEMA6A-AS1', 'score': 37.15}, {'connected_gene': 'ENSG00000250015', 'score': 34.41}, {'connected_gene': 'ATG12', 'score': 19.19}, {'connected_gene': 'LOC101927100', 'score': 17.28}, {'connected_gene': 'TICAM2', 'score': 16.74}, {'connected_gene': 'PGGT1B', 'score': 10.69}, {'connected_gene': 'TMED7-TICAM2', 'score': 10.51}, {'connected_gene': 'TMED7', 'score': 6.14}, {'connected_gene': 'CCT5P1', 'score': 0.29}]
chr5 GH05I115242 115242529 115244090 0.52 [{'connected_gene': 'TRIM36', 'score': 10.43}, {'connected_gene': 'TICAM2', 'score': 9.18}, {'connected_gene': 'LOC101927100', 'score': 9.18}, {'connected_gene': 'TMED7-TICAM2', 'score': 9.17}, {'connected_gene': 'ENSG00000271797', 'score': 0.37}, {'connected_gene': 'PGGT1B', 'score': 0.37}, {'connected_gene': 'GC05M115205', 'score': 0.28}]
chr5 GH05I115507 115507100 115508740 0.2 [{'connected_gene': 'TMED7', 'score': 10.08}, {'connected_gene': 'TMED7-TICAM2', 'score': 10.08}, {'connected_gene': 'TICAM2', 'score': 10.0}, {'connected_gene': 'LOC101927100', 'score': 10.0}, {'connected_gene': 'CCT5P1', 'score': 0.77}, {'connected_gene': 'ENSG00000249433', 'score': 0.39}]
chr5 GH05I115511 115511899 115512238 0.33 [{'connected_gene': 'CCT5P1', 'score': 550.77}, {'connected_gene': 'TICAM2', 'score': 6.83}, {'connected_gene': 'FEM1C', 'score': 6.56}, {'connected_gene': 'ENSG00000249433', 'score': 0.37}]
chr5 GH05I115459 115459108 115463061 1.23 [{'connected_gene': 'TICAM2', 'score': 21.15}, {'connected_gene': 'FEM1C', 'score': 19.74}, {'connected_gene': 'PGGT1B', 'score': 2.27}, {'connected_gene': 'GC05M115471', 'score': 0.34}, {'connected_gene': 'AK3P4', 'score': 0.22}]
chr5 GH05I115418 115418061 115420684 1.12 [{'connected_gene': 'TICAM2', 'score': 15.24}, {'connected_gene': 'FEM1C', 'score': 13.46}, {'connected_gene': 'PGGT1B', 'score': 1.53}, {'connected_gene': 'AK3P4', 'score': 0.37}, {'connected_gene': 'GC05M115471', 'score': 0.2}]
chr5 GH05I115556 115556990 115560920 0.9 [{'connected_gene': 'TICAM2', 'score': 18.48}, {'connected_gene': 'LOC101927100', 'score': 17.45}, {'connected_gene': 'TMED7', 'score': 16.32}, {'connected_gene': 'TMED7-TICAM2', 'score': 10.89}, {'connected_gene': 'SEMA6A-AS1', 'score': 10.78}, {'connected_gene': 'FEM1C', 'score': 6.79}, {'connected_gene': 'GC05P115575', 'score': 0.37}]
chr5 GH05I115601 115601173 115603975 1.88 [{'connected_gene': 'TICAM2', 'score': 559.49}, {'connected_gene': 'LOC101927100', 'score': 559.12}, {'connected_gene': 'ENSG00000250015', 'score': 11.92}, {'connected_gene': 'SEMA6A-AS1', 'score': 10.5}, {'connected_gene': 'TMED7-TICAM2', 'score': 0.34}]
chr5 GH05I115538 115538801 115539400 0.2 [{'connected_gene': 'TICAM2', 'score': 10.38}, {'connected_gene': 'LOC101927100', 'score': 10.38}, {'connected_gene': 'TMED7-TICAM2', 'score': 10.33}, {'connected_gene': 'FEM1C', 'score': 0.44}, {'connected_gene': 'CCT5P1', 'score': 0.31}]
chr5 GH05I115539 115539601 115539800 0.2 [{'connected_gene': 'TICAM2', 'score': 10.38}, {'connected_gene': 'LOC101927100', 'score': 10.38}, {'connected_gene': 'TMED7-TICAM2', 'score': 10.33}, {'connected_gene': 'FEM1C', 'score': 0.44}, {'connected_gene': 'CCT5P1', 'score': 0.31}]
chr5 GH05I115537 115537401 115537600 0.2 [{'connected_gene': 'TICAM2', 'score': 10.38}, {'connected_gene': 'LOC101927100', 'score': 10.38}, {'connected_gene': 'TMED7-TICAM2', 'score': 10.33}, {'connected_gene': 'TMED7', 'score': 5.76}, {'connected_gene': 'FEM1C', 'score': 0.44}, {'connected_gene': 'CCT5P1', 'score': 0.31}]
chr5 GH05I115549 115549244 115549433 0.68 [{'connected_gene': 'CCDC112', 'score': 11.72}, {'connected_gene': 'TICAM2', 'score': 11.3}, {'connected_gene': 'LOC101927100', 'score': 11.3}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.25}, {'connected_gene': 'TMED7', 'score': 11.13}, {'connected_gene': 'AP3S1', 'score': 10.16}, {'connected_gene': 'ATG12', 'score': 10.16}, {'connected_gene': 'FEM1C', 'score': 0.77}, {'connected_gene': 'GC05P115575', 'score': 0.31}]
chr5 GH05I115551 115551004 115551943 0.62 [{'connected_gene': 'CCDC112', 'score': 11.72}, {'connected_gene': 'TICAM2', 'score': 11.3}, {'connected_gene': 'LOC101927100', 'score': 11.3}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.26}, {'connected_gene': 'TMED7', 'score': 11.13}, {'connected_gene': 'AP3S1', 'score': 10.16}, {'connected_gene': 'ATG12', 'score': 10.16}, {'connected_gene': 'FEM1C', 'score': 0.44}, {'connected_gene': 'GC05P115575', 'score': 0.34}]
chr5 GH05I115288 115288801 115289200 0.2 [{'connected_gene': 'HMGN1P15', 'score': 550.77}, {'connected_gene': 'RPS2P26', 'score': 11.86}, {'connected_gene': 'PGGT1B', 'score': 11.83}, {'connected_gene': 'TICAM2', 'score': 10.37}, {'connected_gene': 'LOC101927100', 'score': 10.37}, {'connected_gene': 'TMED7-TICAM2', 'score': 10.36}, {'connected_gene': 'CCDC112', 'score': 0.44}]
chr5 GH05I115623 115623046 115627266 2.3 [{'connected_gene': 'TMED7-TICAM2', 'score': 550.77}, {'connected_gene': 'TICAM2', 'score': 10.26}, {'connected_gene': 'LOC101927100', 'score': 7.28}, {'connected_gene': 'TMED7', 'score': 5.15}, {'connected_gene': 'COMMD10', 'score': 1.28}]
chr5 GH05I115579 115579344 115579493 0.31 [{'connected_gene': 'GC05P115579', 'score': 550.77}, {'connected_gene': 'GC05P115578', 'score': 550.77}, {'connected_gene': 'FEM1C', 'score': 11.89}, {'connected_gene': 'TICAM2', 'score': 11.68}, {'connected_gene': 'LOC101927100', 'score': 11.68}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.59}, {'connected_gene': 'CCDC112', 'score': 11.59}, {'connected_gene': 'TMED7', 'score': 10.91}]
chr5 GH05I115575 115575192 115576827 0.49 [{'connected_gene': 'GC05P115575', 'score': 550.77}, {'connected_gene': 'TICAM2', 'score': 20.12}, {'connected_gene': 'LOC101927100', 'score': 19.32}, {'connected_gene': 'FEM1C', 'score': 11.89}, {'connected_gene': 'CCDC112', 'score': 11.59}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.58}, {'connected_gene': 'TMED7', 'score': 10.9}, {'connected_gene': 'GC05P115579', 'score': 0.77}]
chr5 GH05I115484 115484201 115485200 0.46 [{'connected_gene': 'GC05M115471', 'score': 550.77}, {'connected_gene': 'TICAM2', 'score': 10.66}, {'connected_gene': 'LOC101927100', 'score': 10.66}, {'connected_gene': 'TMED7-TICAM2', 'score': 10.64}, {'connected_gene': 'AK3P4', 'score': 0.18}]
chr5 GH05I115574 115574724 115574813 0.59 [{'connected_gene': 'GC05P115575', 'score': 550.77}, {'connected_gene': 'LOC101927100', 'score': 17.93}, {'connected_gene': 'FEM1C', 'score': 11.91}, {'connected_gene': 'TICAM2', 'score': 11.66}, {'connected_gene': 'CCDC112', 'score': 11.59}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.58}, {'connected_gene': 'TMED7', 'score': 10.9}]