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
ENST00000344517 [[229652328, 229654157], [229654587, 229654622], [229657338, 229657382], [229661682, 229661863], [229662975, 229663055], [229665945, 229666155], [229667382, 229667478], [229675202, 229675338], [229676352, 229676499], [229677983, 229678118], [229683245, 229683448], [229684980, 229685181], [229693882, 229694442]] [[229653925, 229654157], [229654587, 229654622], [229657338, 229657382], [229661682, 229661863], [229662975, 229663055], [229665945, 229666155], [229667382, 229667478], [229675202, 229675338], [229676352, 229676499], [229677983, 229678118], [229683245, 229683448], [229684980, 229685181], [229693882, 229694399]]
ENST00000498158 [[229653543, 229654157], [229654587, 229654850]] None
ENST00000486755 [[229661808, 229661863], [229662975, 229663055], [229665945, 229666155], [229667382, 229667649]] None
NM_012089 [[229652328, 229654157], [229654587, 229654622], [229657338, 229657382], [229661682, 229661863], [229662975, 229663055], [229665945, 229666155], [229667382, 229667478], [229675202, 229675338], [229676352, 229676499], [229677983, 229678118], [229683245, 229683448], [229684980, 229685181], [229693882, 229694442]] [[229653925, 229654157], [229654587, 229654622], [229657338, 229657382], [229661682, 229661863], [229662975, 229663055], [229665945, 229666155], [229667382, 229667478], [229675202, 229675338], [229676352, 229676499], [229677983, 229678118], [229683245, 229683448], [229684980, 229685181], [229693882, 229694399]]
Promoter
Chrom Start End Description
chr1 229694406 229694477 CAGE_peak_1_at_ABCB10_5end
chr1 229694480 229694499 CAGE_peak_2_at_ABCB10_5end
chr1 229694598 229694606 CAGE_peak_4_at_ABCB10_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I229624 229624640 229627764 2.07 [{'connected_gene': 'URB2', 'score': 572.15}, {'connected_gene': 'TAF5L', 'score': 550.77}, {'connected_gene': 'NUP133', 'score': 31.17}, {'connected_gene': 'ABCB10', 'score': 10.89}]
chr1 GH01I230320 230320053 230322956 0.69 [{'connected_gene': 'PGBD5', 'score': 12.57}, {'connected_gene': 'ABCB10', 'score': 9.23}, {'connected_gene': 'PIR49687', 'score': 0.29}, {'connected_gene': 'ENSG00000224407', 'score': 0.28}]
chr1 GH01I230310 230310635 230310844 0.99 [{'connected_gene': 'PGBD5', 'score': 15.64}, {'connected_gene': 'ENSG00000224407', 'score': 11.36}, {'connected_gene': 'ABCB10', 'score': 10.03}, {'connected_gene': 'PIR49687', 'score': 0.26}]
chr1 GH01I230313 230313476 230315336 0.31 [{'connected_gene': 'PGBD5', 'score': 13.72}, {'connected_gene': 'ENSG00000224407', 'score': 11.34}, {'connected_gene': 'ABCB10', 'score': 10.03}, {'connected_gene': 'PIR49687', 'score': 0.28}]
chr1 GH01I229482 229482074 229482243 0.65 [{'connected_gene': 'TMEM78', 'score': 11.49}, {'connected_gene': 'RNU4-21P', 'score': 10.85}, {'connected_gene': 'ACTA1', 'score': 10.84}, {'connected_gene': 'ABCB10', 'score': 10.8}, {'connected_gene': 'CCSAP', 'score': 10.55}, {'connected_gene': 'GC01M229453', 'score': 0.31}, {'connected_gene': 'NUP133', 'score': 0.31}]
chr1 GH01I228885 228885781 228891963 0.59 [{'connected_gene': 'CICP26', 'score': 12.52}, {'connected_gene': 'NUP133', 'score': 12.43}, {'connected_gene': 'C1orf35', 'score': 11.7}, {'connected_gene': 'ABCB10', 'score': 11.58}, {'connected_gene': 'ENSG00000271399', 'score': 5.11}, {'connected_gene': 'LOC105373143', 'score': 0.22}]
chr1 GH01I228840 228840993 228843069 1.57 [{'connected_gene': 'CICP26', 'score': 31.91}, {'connected_gene': 'ENSG00000269890', 'score': 22.03}, {'connected_gene': 'HMGN2P19', 'score': 20.54}, {'connected_gene': 'NUP133', 'score': 13.24}, {'connected_gene': 'TAF5L', 'score': 11.12}, {'connected_gene': 'BTNL10', 'score': 10.92}, {'connected_gene': 'ABCB10', 'score': 10.68}, {'connected_gene': 'ENSG00000226920', 'score': 10.01}, {'connected_gene': 'DUSP5P1', 'score': 10.01}, {'connected_gene': 'ENSG00000271399', 'score': 9.95}, {'connected_gene': 'HIST3H3', 'score': 9.94}, {'connected_gene': 'C1orf35', 'score': 9.77}, {'connected_gene': 'URB2', 'score': 9.7}, {'connected_gene': 'RHOU', 'score': 1.38}, {'connected_gene': 'GC01M228858', 'score': 0.28}]
chr1 GH01I229267 229267960 229273343 2.46 [{'connected_gene': 'RAB4A', 'score': 556.0}, {'connected_gene': 'LOC105373159', 'score': 550.77}, {'connected_gene': 'NUP133', 'score': 58.34}, {'connected_gene': 'URB2', 'score': 31.69}, {'connected_gene': 'ENSG00000269890', 'score': 21.46}, {'connected_gene': 'HIST3H3', 'score': 18.71}, {'connected_gene': 'CCSAP', 'score': 11.35}, {'connected_gene': 'TAF5L', 'score': 11.15}, {'connected_gene': 'TMEM78', 'score': 10.83}, {'connected_gene': 'ABCB10', 'score': 10.72}, {'connected_gene': 'ENSG00000226920', 'score': 10.08}, {'connected_gene': 'DUSP5P1', 'score': 9.95}, {'connected_gene': 'HMGN2P19', 'score': 9.91}, {'connected_gene': 'PIR40038', 'score': 0.44}, {'connected_gene': 'GC01M228906', 'score': 0.23}]
chr1 GH01I228765 228765269 228766111 0.51 [{'connected_gene': 'RHOU', 'score': 5.17}, {'connected_gene': 'URB2', 'score': 4.4}, {'connected_gene': 'ABCB10', 'score': 4.17}, {'connected_gene': 'GC01P228775', 'score': 0.44}, {'connected_gene': 'GC01P228778', 'score': 0.44}, {'connected_gene': 'GC01M228756', 'score': 0.37}]
chr1 GH01I229219 229219696 229224196 1.74 [{'connected_gene': 'NUP133', 'score': 110.44}, {'connected_gene': 'ENSG00000269890', 'score': 51.34}, {'connected_gene': 'URB2', 'score': 40.46}, {'connected_gene': 'HMGN2P19', 'score': 29.8}, {'connected_gene': 'LOC105373159', 'score': 27.96}, {'connected_gene': 'LOC105373158', 'score': 25.02}, {'connected_gene': 'ENSG00000226920', 'score': 22.93}, {'connected_gene': 'HIST3H3', 'score': 19.66}, {'connected_gene': 'TAF5L', 'score': 11.14}, {'connected_gene': 'ABCB10', 'score': 10.71}, {'connected_gene': 'DUSP5P1', 'score': 9.95}, {'connected_gene': 'RAB4A', 'score': 2.01}, {'connected_gene': 'ENSG00000233920', 'score': 0.44}, {'connected_gene': 'GC01M228906', 'score': 0.15}]
chr1 GH01I228781 228781194 228784931 1.7 [{'connected_gene': 'NUP133', 'score': 144.13}, {'connected_gene': 'CICP26', 'score': 125.89}, {'connected_gene': 'C1orf35', 'score': 96.4}, {'connected_gene': 'ENSG00000269890', 'score': 51.26}, {'connected_gene': 'HMGN2P19', 'score': 32.32}, {'connected_gene': 'ABCB10', 'score': 28.22}, {'connected_gene': 'HIST3H3', 'score': 27.97}, {'connected_gene': 'TAF5L', 'score': 27.68}, {'connected_gene': 'URB2', 'score': 16.08}, {'connected_gene': 'LOC105373159', 'score': 11.9}, {'connected_gene': 'MRPL55', 'score': 10.4}, {'connected_gene': 'TMEM78', 'score': 9.91}, {'connected_gene': 'RHOU', 'score': 6.46}, {'connected_gene': 'WNT3A', 'score': 5.45}, {'connected_gene': 'LOC100421842', 'score': 0.44}, {'connected_gene': 'GC01M228858', 'score': 0.37}]
chr1 GH01I230121 230121981 230127600 1.68 [{'connected_gene': 'NUP133', 'score': 12.96}, {'connected_gene': 'TAF5L', 'score': 11.49}, {'connected_gene': 'URB2', 'score': 10.4}, {'connected_gene': 'ABCB10', 'score': 10.24}, {'connected_gene': 'COG2', 'score': 9.84}, {'connected_gene': 'GALNT2', 'score': 6.29}, {'connected_gene': 'GC01P230113', 'score': 0.39}, {'connected_gene': 'GC01M230200', 'score': 0.13}]
chr1 GH01I230156 230156794 230161890 1.4 [{'connected_gene': 'NUP133', 'score': 12.97}, {'connected_gene': 'TAF5L', 'score': 11.48}, {'connected_gene': 'URB2', 'score': 10.39}, {'connected_gene': 'ABCB10', 'score': 10.25}, {'connected_gene': 'COG2', 'score': 9.85}, {'connected_gene': 'GC01P230113', 'score': 0.25}, {'connected_gene': 'GC01M230200', 'score': 0.17}, {'connected_gene': 'GALNT2', 'score': 0.15}]
chr1 GH01I229217 229217914 229218103 0.75 [{'connected_gene': 'NUP133', 'score': 12.47}, {'connected_gene': 'ABCB10', 'score': 11.61}, {'connected_gene': 'ENSG00000233920', 'score': 0.44}, {'connected_gene': 'LOC105373158', 'score': 0.29}, {'connected_gene': 'GC01M228906', 'score': 0.15}]
chr1 GH01I230500 230500929 230504528 0.69 [{'connected_gene': 'NUP133', 'score': 24.03}, {'connected_gene': 'C1orf131', 'score': 13.86}, {'connected_gene': 'TAF5L', 'score': 11.12}, {'connected_gene': 'ABCB10', 'score': 10.68}, {'connected_gene': 'HMGN2P19', 'score': 9.88}, {'connected_gene': 'URB2', 'score': 9.7}, {'connected_gene': 'LOC105373164', 'score': 0.44}, {'connected_gene': 'LOC105373165', 'score': 0.25}]
chr1 GH01I229228 229228818 229232636 1.68 [{'connected_gene': 'NUP133', 'score': 43.95}, {'connected_gene': 'ENSG00000269890', 'score': 38.16}, {'connected_gene': 'HMGN2P19', 'score': 21.2}, {'connected_gene': 'HIST3H3', 'score': 21.13}, {'connected_gene': 'LOC105373158', 'score': 13.8}, {'connected_gene': 'ABCB10', 'score': 11.61}, {'connected_gene': 'URB2', 'score': 10.15}, {'connected_gene': 'ENSG00000226920', 'score': 10.06}, {'connected_gene': 'DUSP5P1', 'score': 9.95}, {'connected_gene': 'CCSAP', 'score': 2.94}, {'connected_gene': 'RHOU', 'score': 2.25}, {'connected_gene': 'SPHAR', 'score': 1.34}, {'connected_gene': 'ENSG00000233920', 'score': 0.77}, {'connected_gene': 'TMEM78', 'score': 0.37}, {'connected_gene': 'GC01M228906', 'score': 0.16}]
chr1 GH01I229252 229252172 229255138 1.53 [{'connected_gene': 'NUP133', 'score': 26.25}, {'connected_gene': 'ENSG00000269890', 'score': 19.43}, {'connected_gene': 'HMGN2P19', 'score': 10.8}, {'connected_gene': 'TAF5L', 'score': 10.77}, {'connected_gene': 'ACTA1', 'score': 10.16}, {'connected_gene': 'ENSG00000226920', 'score': 10.07}, {'connected_gene': 'ABCB10', 'score': 9.98}, {'connected_gene': 'DUSP5P1', 'score': 9.95}, {'connected_gene': 'LOC105373158', 'score': 8.6}, {'connected_gene': 'CCSAP', 'score': 2.73}, {'connected_gene': 'URB2', 'score': 1.95}, {'connected_gene': 'RAB4A', 'score': 1.95}, {'connected_gene': 'LOC102723935', 'score': 0.77}, {'connected_gene': 'TMEM78', 'score': 0.77}, {'connected_gene': 'GC01M228906', 'score': 0.2}]
chr1 GH01I230208 230208229 230213400 1.2 [{'connected_gene': 'GALNT2', 'score': 14.51}, {'connected_gene': 'NUP133', 'score': 13.24}, {'connected_gene': 'TAF5L', 'score': 11.12}, {'connected_gene': 'ABCB10', 'score': 10.68}, {'connected_gene': 'HMGN2P19', 'score': 9.88}, {'connected_gene': 'URB2', 'score': 9.7}, {'connected_gene': 'LOC644006', 'score': 6.86}, {'connected_gene': 'GC01M230200', 'score': 0.29}, {'connected_gene': 'GC01P230113', 'score': 0.15}]
chr1 GH01I229925 229925260 229925439 0.33 [{'connected_gene': 'ABCB10', 'score': 9.04}, {'connected_gene': 'ACTA1', 'score': 2.48}, {'connected_gene': 'LOC105373163', 'score': 0.34}, {'connected_gene': 'LINC01736', 'score': 0.18}]
chr1 GH01I230101 230101822 230108157 1.75 [{'connected_gene': 'ABCB10', 'score': 21.19}, {'connected_gene': 'GALNT2', 'score': 18.38}, {'connected_gene': 'NUP133', 'score': 12.44}, {'connected_gene': 'COG2', 'score': 10.84}, {'connected_gene': 'GC01P230113', 'score': 0.44}]
chr1 GH01I230109 230109054 230110966 1.23 [{'connected_gene': 'ABCB10', 'score': 9.38}, {'connected_gene': 'GALNT2', 'score': 7.21}, {'connected_gene': 'GC01P230113', 'score': 0.77}]
chr1 GH01I229862 229862874 229865432 0.2 [{'connected_gene': 'ABCB10', 'score': 4.24}, {'connected_gene': 'LOC105373162', 'score': 0.77}, {'connected_gene': 'LOC105373161', 'score': 0.22}]
chr1 GH01I229556 229556975 229559945 2.36 [{'connected_gene': 'ABCB10', 'score': 553.9}, {'connected_gene': 'HMGN2P19', 'score': 35.52}, {'connected_gene': 'NUP133', 'score': 1.72}, {'connected_gene': 'TAF5L', 'score': 1.56}, {'connected_gene': 'RNA5SP78', 'score': 0.44}]
chr1 GH01I229554 229554907 229555493 1.23 [{'connected_gene': 'ABCB10', 'score': 17.59}, {'connected_gene': 'RNA5SP78', 'score': 0.44}]
chr1 GH01I229278 229278076 229280092 0.79 [{'connected_gene': 'CCSAP', 'score': 17.88}, {'connected_gene': 'SPHAR', 'score': 11.9}, {'connected_gene': 'ENSG00000237481', 'score': 11.34}, {'connected_gene': 'RNU6-180P', 'score': 10.94}, {'connected_gene': 'TMEM78', 'score': 10.69}, {'connected_gene': 'ACTA1', 'score': 10.18}, {'connected_gene': 'ABCB10', 'score': 9.72}, {'connected_gene': 'RNU4-21P', 'score': 9.56}, {'connected_gene': 'RAB4A', 'score': 6.84}, {'connected_gene': 'GC01P229306', 'score': 0.34}, {'connected_gene': 'GC01P229305', 'score': 0.34}, {'connected_gene': 'GC01M228906', 'score': 0.26}]
chr1 GH01I229478 229478561 229481578 0.73 [{'connected_gene': 'HMGN2P19', 'score': 33.82}, {'connected_gene': 'TMEM78', 'score': 11.49}, {'connected_gene': 'LOC105373159', 'score': 11.29}, {'connected_gene': 'RAB4A', 'score': 11.29}, {'connected_gene': 'ACTA1', 'score': 10.84}, {'connected_gene': 'RNU4-21P', 'score': 10.84}, {'connected_gene': 'ABCB10', 'score': 10.8}, {'connected_gene': 'RNU6-180P', 'score': 10.72}, {'connected_gene': 'CCSAP', 'score': 10.69}, {'connected_gene': 'GC01M229453', 'score': 0.34}, {'connected_gene': 'NUP133', 'score': 0.31}]
chr1 GH01I230185 230185235 230187485 1.33 [{'connected_gene': 'HMGN2P19', 'score': 12.66}, {'connected_gene': 'NUP133', 'score': 12.15}, {'connected_gene': 'ENSG00000224407', 'score': 11.18}, {'connected_gene': 'TAF5L', 'score': 10.81}, {'connected_gene': 'ABCB10', 'score': 10.17}, {'connected_gene': 'GC01M230200', 'score': 0.22}, {'connected_gene': 'GC01P230113', 'score': 0.19}, {'connected_gene': 'GALNT2', 'score': 0.13}]
chr1 GH01I229567 229567201 229567800 0.54 [{'connected_gene': 'HMGN2P19', 'score': 34.72}, {'connected_gene': 'ABCB10', 'score': 0.44}]
chr1 GH01I229564 229564201 229564800 0.31 [{'connected_gene': 'HMGN2P19', 'score': 41.04}, {'connected_gene': 'ABCB10', 'score': 0.44}]
chr1 GH01I229563 229563202 229563999 0.63 [{'connected_gene': 'HMGN2P19', 'score': 28.19}, {'connected_gene': 'RNU4-21P', 'score': 10.51}, {'connected_gene': 'ABCB10', 'score': 0.77}]
chr1 GH01I230237 230237009 230237645 0.38 [{'connected_gene': 'ENSG00000224407', 'score': 10.69}, {'connected_gene': 'ABCB10', 'score': 8.92}, {'connected_gene': 'GC01M230200', 'score': 0.44}, {'connected_gene': 'GC01P230113', 'score': 0.13}, {'connected_gene': 'GALNT2', 'score': 0.1}]
chr1 GH01I229339 229339154 229340941 0.63 [{'connected_gene': 'ENSG00000237481', 'score': 11.61}, {'connected_gene': 'RNU6-180P', 'score': 10.43}, {'connected_gene': 'RNU4-21P', 'score': 9.41}, {'connected_gene': 'ABCB10', 'score': 9.4}, {'connected_gene': 'CCSAP', 'score': 0.77}, {'connected_gene': 'GC01M228906', 'score': 0.37}]

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