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
ENST00000382275 [[19473140, 19473825], [19483409, 19483661], [19503100, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839351], [19981168, 19981287], [19988194, 19988339]] [[19473334, 19473825], [19483409, 19483661], [19503100, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839095]]
ENST00000507958 [[19473156, 19473825], [19483409, 19483661], [19503100, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839351], [19981168, 19981287], [19991981, 19992123], [20255552, 20255614], [20575570, 20575982]] [[19473334, 19473825], [19483409, 19483661], [19503100, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839095]]
ENST00000502796 [[19473687, 19473825], [19483409, 19483552], [19503100, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839351], [19981168, 19981287], [19988194, 19988294]] [[19483457, 19483552], [19503100, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839095]]
ENST00000511273 [[19502790, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839351], [19988194, 19988316]] [[19502957, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839095]]
ENST00000511423 [[19839080, 19839351], [19878140, 19878199], [19981168, 19981287], [19988194, 19988307]] None
ENST00000507632 [[19839158, 19839351], [20255552, 20255614], [20575570, 20575972]] None
ENST00000503132 [[19839247, 19839351], [19848159, 19848320], [19981168, 19981287], [19988194, 19988308]] None
ENST00000274170 [[19473334, 19473825], [19483409, 19483661], [19503100, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839351], [19878102, 19878199], [19886222, 19886381]] [[19473334, 19473825], [19483409, 19483661], [19503100, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839095]]
ENST00000506372 [[19473681, 19473825], [19483409, 19483555], [19503100, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839351], [19878102, 19878199], [19886222, 19886381]] [[19483457, 19483555], [19503100, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839095]]
ENST00000515257 [[19473723, 19473825], [19483409, 19483555], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19838933]] [[19483457, 19483555], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19838933]]
ENST00000508350 [[19721499, 19721575], [19747050, 19747345], [19803930, 19804137]] None
ENST00000510297 [[19473059, 19473825], [19478612, 19478745]] None
NM_004934 [[19473139, 19473825], [19483409, 19483661], [19503100, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839351], [19981168, 19981287], [19988194, 19988353]] [[19473334, 19473825], [19483409, 19483661], [19503100, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839095]]
NM_001167667 [[19473139, 19473825], [19483409, 19483552], [19503100, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839351], [19981168, 19981287], [19988194, 19988353]] [[19483457, 19483552], [19503100, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839095]]
NM_001291956 [[19473139, 19473825], [19483409, 19483661], [19503100, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839351], [19981168, 19981287], [19991981, 19992123], [20255552, 20255614], [20575570, 20575982]] [[19473334, 19473825], [19483409, 19483661], [19503100, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839095]]
NM_001291957 [[19473139, 19473825], [19483409, 19483555], [19503100, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839351], [19878102, 19878199], [19886222, 19886381]] [[19483457, 19483555], [19503100, 19503218], [19520765, 19520887], [19543977, 19544114], [19571687, 19571941], [19591165, 19591353], [19612542, 19612710], [19721455, 19721575], [19747050, 19747345], [19838867, 19839095]]
Promoter
Chrom Start End Description
chr5 19988288 19988330 CAGE_peak_1_at_CDH18_5end
chr5 19988340 19988358 CAGE_peak_5_at_CDH18_5end
chr5 19988371 19988380 CAGE_peak_9_at_CDH18_5end
chr5 20575610 20575619 CAGE_peak_11_at_CDH18_5end
chr5 20575702 20575716 CAGE_peak_10_at_CDH18_5end
chr5 20575727 20575744 CAGE_peak_8_at_CDH18_5end
chr5 20575754 20575777 CAGE_peak_6_at_CDH18_5end
chr5 20575778 20575783 CAGE_peak_15_at_CDH18_5end
chr5 20575784 20575802 CAGE_peak_2_at_CDH18_5end
chr5 20575812 20575831 CAGE_peak_4_at_CDH18_5end
chr5 20575835 20575842 CAGE_peak_12_at_CDH18_5end
chr5 20575859 20575862 CAGE_peak_14_at_CDH18_5end
chr5 20575942 20575950 CAGE_peak_7_at_CDH18_5end
chr5 20575959 20575997 CAGE_peak_3_at_CDH18_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I020305 20305772 20305831 0.5 [{'connected_gene': 'NUP50P3', 'score': 550.77}, {'connected_gene': 'CDH18-AS1', 'score': 550.77}, {'connected_gene': 'CDH18', 'score': 550.06}]
chr5 GH05I020571 20571923 20572269 0.22 [{'connected_gene': 'LINC02241', 'score': 4.5}, {'connected_gene': 'CDH18', 'score': 0.77}, {'connected_gene': 'GC05M020551', 'score': 0.39}]
chr5 GH05I019767 19767754 19769495 0.31 [{'connected_gene': 'LOC105374672', 'score': 0.77}, {'connected_gene': 'GC05P019708', 'score': 0.22}, {'connected_gene': 'CDH18', 'score': 0.03}]
chr5 GH05I019795 19795332 19795441 0.38 [{'connected_gene': 'LOC105374672', 'score': 0.34}, {'connected_gene': 'GC05P019822', 'score': 0.31}, {'connected_gene': 'CDH18', 'score': 0.03}]
chr5 GH05I020286 20286672 20286821 0.49 [{'connected_gene': 'LOC105374671', 'score': 0.77}, {'connected_gene': 'GC05P020274', 'score': 0.39}, {'connected_gene': 'CDH18', 'score': 0.06}]
chr5 GH05I020604 20604769 20605701 0.2 [{'connected_gene': 'CDH18', 'score': 11.35}, {'connected_gene': 'LINC02146', 'score': 8.05}, {'connected_gene': 'LINC02241', 'score': 4.89}, {'connected_gene': 'GC05M020572', 'score': 0.39}]
chr5 GH05I020606 20606033 20606169 0.2 [{'connected_gene': 'CDH18', 'score': 11.34}, {'connected_gene': 'LINC02241', 'score': 0.44}, {'connected_gene': 'GC05M020572', 'score': 0.39}]
chr5 GH05I019987 19987801 19988401 1.26 [{'connected_gene': 'CDH18', 'score': 550.03}, {'connected_gene': 'GC05P020116', 'score': 0.13}, {'connected_gene': 'GC05P020115', 'score': 0.13}, {'connected_gene': 'GC05P019822', 'score': 0.1}]
chr5 GH05I020447 20447235 20447385 0.24 [{'connected_gene': 'CDH18', 'score': 20.46}, {'connected_gene': 'GC05M020468', 'score': 0.34}, {'connected_gene': 'GC05M020403', 'score': 0.26}]
chr5 GH05I020572 20572712 20572861 0.6 [{'connected_gene': 'CDH18', 'score': 0.77}, {'connected_gene': 'GC05M020551', 'score': 0.39}, {'connected_gene': 'GC05M020572', 'score': 0.34}]
chr5 GH05I020575 20575853 20575912 0.5 [{'connected_gene': 'CDH18', 'score': 550.77}, {'connected_gene': 'GC05M020572', 'score': 0.37}]
chr5 GH05I019733 19733812 19733961 0.31 [{'connected_gene': 'GC05P019708', 'score': 0.31}, {'connected_gene': 'LOC105374672', 'score': 0.28}, {'connected_gene': 'CDH18', 'score': 0.02}]
chr5 GH05I020275 20275695 20277405 0.83 [{'connected_gene': 'GC05P020274', 'score': 0.77}, {'connected_gene': 'LOC105374671', 'score': 0.39}, {'connected_gene': 'CDH18', 'score': 0.06}]
chr5 GH05I019853 19853127 19854368 0.56 [{'connected_gene': 'GC05P019822', 'score': 0.29}, {'connected_gene': 'GC05P020116', 'score': 0.07}, {'connected_gene': 'GC05P020115', 'score': 0.07}, {'connected_gene': 'CDH18', 'score': 0.03}]
chr5 GH05I019928 19928012 19928181 0.38 [{'connected_gene': 'GC05P019822', 'score': 0.14}, {'connected_gene': 'GC05P020116', 'score': 0.09}, {'connected_gene': 'GC05P020115', 'score': 0.09}, {'connected_gene': 'CDH18', 'score': 0.03}]
chr5 GH05I019890 19890994 19892355 0.62 [{'connected_gene': 'GC05P019822', 'score': 0.2}, {'connected_gene': 'GC05P020116', 'score': 0.07}, {'connected_gene': 'GC05P020115', 'score': 0.07}, {'connected_gene': 'CDH18', 'score': 0.03}]
chr5 GH05I020109 20109452 20109601 0.59 [{'connected_gene': 'GC05P020116', 'score': 0.44}, {'connected_gene': 'GC05P020115', 'score': 0.44}, {'connected_gene': 'GC05P019822', 'score': 0.06}, {'connected_gene': 'CDH18', 'score': 0.04}]
chr5 GH05I019929 19928241 19930088 0.86 [{'connected_gene': 'GC05P019822', 'score': 0.14}, {'connected_gene': 'GC05P020116', 'score': 0.09}, {'connected_gene': 'GC05P020115', 'score': 0.09}, {'connected_gene': 'CDH18', 'score': 0.03}]
chr5 GH05I019706 19706372 19707363 0.64 [{'connected_gene': 'GC05P019708', 'score': 0.77}, {'connected_gene': 'GC05M019259', 'score': 0.09}, {'connected_gene': 'CDH18', 'score': 0.03}]
chr5 GH05I019885 19885232 19885381 0.59 [{'connected_gene': 'GC05P019822', 'score': 0.21}, {'connected_gene': 'GC05P020116', 'score': 0.07}, {'connected_gene': 'GC05P020115', 'score': 0.07}, {'connected_gene': 'CDH18', 'score': 0.03}]
chr5 GH05I019880 19880872 19881061 0.85 [{'connected_gene': 'GC05P019822', 'score': 0.22}, {'connected_gene': 'GC05P020116', 'score': 0.07}, {'connected_gene': 'GC05P020115', 'score': 0.07}, {'connected_gene': 'CDH18', 'score': 0.03}]
chr5 GH05I019858 19858992 19859905 0.31 [{'connected_gene': 'GC05P019822', 'score': 0.28}, {'connected_gene': 'GC05P020116', 'score': 0.07}, {'connected_gene': 'GC05P020115', 'score': 0.07}, {'connected_gene': 'CDH18', 'score': 0.03}]
chr5 GH05I019883 19883340 19883503 0.22 [{'connected_gene': 'GC05P019822', 'score': 0.21}, {'connected_gene': 'GC05P020116', 'score': 0.07}, {'connected_gene': 'GC05P020115', 'score': 0.07}, {'connected_gene': 'CDH18', 'score': 0.03}]

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