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
ENST00000395425 [[55614829, 55615191], [55615311, 55615402], [55617516, 55617566], [55618412, 55618659], [55619307, 55619365], [55621334, 55621524], [55625239, 55625459], [55629688, 55629793], [55636116, 55636277], [55637419, 55637505], [55642063, 55642190], [55642611, 55642736], [55643779, 55644054], [55646346, 55646417], [55647373, 55647496], [55647930, 55648015], [55649087, 55649150], [55650277, 55650471], [55655659, 55655898], [55658180, 55658262]] [[55615171, 55615191], [55615311, 55615402], [55617516, 55617566], [55618412, 55618659], [55619307, 55619365], [55621334, 55621524], [55625239, 55625459], [55629688, 55629793], [55636116, 55636277], [55637419, 55637505], [55642063, 55642190], [55642611, 55642736], [55643779, 55644054], [55646346, 55646417], [55647373, 55647496], [55647930, 55648015], [55649087, 55649150], [55650277, 55650471]]
ENST00000247191 [[55614853, 55615191], [55617516, 55617566], [55618412, 55618659], [55619307, 55619365], [55621334, 55621524], [55625239, 55625459], [55629688, 55629793], [55636116, 55636277], [55637419, 55637505], [55642063, 55642190], [55642611, 55642736], [55643779, 55644054], [55646346, 55646417], [55647373, 55647496], [55647930, 55648015], [55649087, 55649150], [55650277, 55650471], [55655659, 55655898], [55658180, 55658396]] [[55615068, 55615191], [55617516, 55617566], [55618412, 55618659], [55619307, 55619365], [55621334, 55621524], [55625239, 55625459], [55629688, 55629793], [55636116, 55636277], [55637419, 55637505], [55642063, 55642190], [55642611, 55642736], [55643779, 55644054], [55646346, 55646417], [55647373, 55647496], [55647930, 55648015], [55649087, 55649150], [55650277, 55650471]]
ENST00000554007 [[55617045, 55617566], [55618412, 55618659], [55619307, 55619362]] None
ENST00000557645 [[55647373, 55647496], [55647930, 55648015], [55649087, 55649150], [55650277, 55650471], [55655659, 55655898], [55657786, 55657890]] [[55647373, 55647496], [55647930, 55648015], [55649087, 55649150], [55650277, 55650471]]
ENST00000554067 [[55650323, 55650471], [55655659, 55655898], [55657786, 55657894], [55658180, 55658326]] [[55650376, 55650471]]
NM_001146015 [[55614833, 55615191], [55615311, 55615402], [55617516, 55617566], [55618412, 55618659], [55619307, 55619365], [55621334, 55621524], [55625239, 55625459], [55629688, 55629793], [55636116, 55636277], [55637419, 55637505], [55642063, 55642190], [55642611, 55642736], [55643779, 55644054], [55646346, 55646417], [55647373, 55647496], [55647930, 55648015], [55649087, 55649150], [55650277, 55650471], [55655659, 55655898], [55658180, 55658396]] [[55615171, 55615191], [55615311, 55615402], [55617516, 55617566], [55618412, 55618659], [55619307, 55619365], [55621334, 55621524], [55625239, 55625459], [55629688, 55629793], [55636116, 55636277], [55637419, 55637505], [55642063, 55642190], [55642611, 55642736], [55643779, 55644054], [55646346, 55646417], [55647373, 55647496], [55647930, 55648015], [55649087, 55649150], [55650277, 55650471]]
NM_014750 [[55614833, 55615191], [55617516, 55617566], [55618412, 55618659], [55619307, 55619365], [55621334, 55621524], [55625239, 55625459], [55629688, 55629793], [55636116, 55636277], [55637419, 55637505], [55642063, 55642190], [55642611, 55642736], [55643779, 55644054], [55646346, 55646417], [55647373, 55647496], [55647930, 55648015], [55649087, 55649150], [55650277, 55650471], [55655659, 55655898], [55658180, 55658396]] [[55615068, 55615191], [55617516, 55617566], [55618412, 55618659], [55619307, 55619365], [55621334, 55621524], [55625239, 55625459], [55629688, 55629793], [55636116, 55636277], [55637419, 55637505], [55642063, 55642190], [55642611, 55642736], [55643779, 55644054], [55646346, 55646417], [55647373, 55647496], [55647930, 55648015], [55649087, 55649150], [55650277, 55650471]]
Promoter
Chrom Start End Description
chr14 55658252 55658321 CAGE_peak_1_at_DLGAP5_5end
chr14 55658323 55658334 CAGE_peak_2_at_DLGAP5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I055189 55189178 55189237 0.5 [{'connected_gene': 'DLGAP5', 'score': 550.77}, {'connected_gene': 'LGALS3', 'score': 0.2}, {'connected_gene': 'GC14M054989', 'score': 0.05}]
chr14 GH14I055139 55139002 55139725 0.2 [{'connected_gene': 'DLGAP5', 'score': 11.66}, {'connected_gene': 'LGALS3', 'score': 0.37}, {'connected_gene': 'GC14M054989', 'score': 0.05}]
chr14 GH14I055141 55141726 55142391 0.51 [{'connected_gene': 'LGALS3', 'score': 0.37}, {'connected_gene': 'DLGAP5', 'score': 0.25}, {'connected_gene': 'GC14M054989', 'score': 0.04}]
chr14 GH14I055152 55152163 55152312 0.43 [{'connected_gene': 'LGALS3', 'score': 12.4}, {'connected_gene': 'DLGAP5', 'score': 11.55}, {'connected_gene': 'GC14M054989', 'score': 0.05}]
chr14 GH14I055097 55097057 55109751 1.83 [{'connected_gene': 'LGALS3', 'score': 40.72}, {'connected_gene': 'LOC105370509', 'score': 34.62}, {'connected_gene': 'MAPK1IP1L', 'score': 25.39}, {'connected_gene': 'ATG14', 'score': 16.8}, {'connected_gene': 'SOCS4', 'score': 13.23}, {'connected_gene': 'GCH1', 'score': 12.33}, {'connected_gene': 'DLGAP5', 'score': 11.3}, {'connected_gene': 'FBXO34', 'score': 8.13}, {'connected_gene': 'ENSG00000259318', 'score': 5.61}, {'connected_gene': 'GC14M055058', 'score': 0.26}, {'connected_gene': 'GC14M055059', 'score': 0.26}, {'connected_gene': 'GC14M054989', 'score': 0.04}]
chr14 GH14I055113 55113140 55134826 2.73 [{'connected_gene': 'LGALS3', 'score': 578.57}, {'connected_gene': 'LOC105370509', 'score': 40.15}, {'connected_gene': 'GCH1', 'score': 11.0}, {'connected_gene': 'FBXO34', 'score': 10.91}, {'connected_gene': 'DLGAP5', 'score': 10.77}, {'connected_gene': 'ATG14', 'score': 6.91}, {'connected_gene': 'ENSG00000259318', 'score': 5.86}, {'connected_gene': 'MAPK1IP1L', 'score': 3.36}, {'connected_gene': 'GC14M055058', 'score': 0.21}, {'connected_gene': 'GC14M055059', 'score': 0.21}, {'connected_gene': 'GC14M054989', 'score': 0.05}]
chr14 GH14I055063 55063020 55067161 0.38 [{'connected_gene': 'LOC105370509', 'score': 13.6}, {'connected_gene': 'DLGAP5', 'score': 10.84}, {'connected_gene': 'GC14M055059', 'score': 0.44}, {'connected_gene': 'GC14M055058', 'score': 0.44}, {'connected_gene': 'MAPK1IP1L', 'score': 0.39}, {'connected_gene': 'LGALS3', 'score': 0.22}, {'connected_gene': 'GC14M054989', 'score': 0.03}]
chr14 GH14I055135 55135861 55138524 0.99 [{'connected_gene': 'LOC105370509', 'score': 40.33}, {'connected_gene': 'DLGAP5', 'score': 11.66}, {'connected_gene': 'LGALS3', 'score': 0.39}, {'connected_gene': 'GC14M054989', 'score': 0.05}]
chr14 GH14I055373 55373324 55375213 1.02 [{'connected_gene': 'LOC105370509', 'score': 25.25}, {'connected_gene': 'DLGAP5', 'score': 10.6}, {'connected_gene': 'ATG14', 'score': 3.32}, {'connected_gene': 'FBXO34', 'score': 3.23}, {'connected_gene': 'MAPK1IP1L', 'score': 1.83}, {'connected_gene': 'PIR34697', 'score': 0.44}, {'connected_gene': 'PIR35307', 'score': 0.44}, {'connected_gene': 'GC14M054989', 'score': 0.08}]
chr14 GH14I055084 55084511 55086076 0.66 [{'connected_gene': 'LOC105370509', 'score': 19.66}, {'connected_gene': 'MAPK1IP1L', 'score': 11.84}, {'connected_gene': 'LGALS3', 'score': 11.58}, {'connected_gene': 'DLGAP5', 'score': 11.25}, {'connected_gene': 'GC14M055059', 'score': 0.31}, {'connected_gene': 'GC14M055058', 'score': 0.31}, {'connected_gene': 'GC14M054989', 'score': 0.04}]
chr14 GH14I055145 55145916 55147920 0.2 [{'connected_gene': 'LOC105370509', 'score': 20.84}, {'connected_gene': 'LGALS3', 'score': 12.64}, {'connected_gene': 'ENSG00000259318', 'score': 6.06}, {'connected_gene': 'DLGAP5', 'score': 0.26}, {'connected_gene': 'GC14M054989', 'score': 0.04}]
chr14 GH14I055190 55189294 55192408 1.99 [{'connected_gene': 'LOC105370508', 'score': 550.77}, {'connected_gene': 'DLGAP5', 'score': 550.77}, {'connected_gene': 'MAPK1IP1L', 'score': 30.32}, {'connected_gene': 'LOC105370509', 'score': 13.12}, {'connected_gene': 'ATG14', 'score': 12.4}, {'connected_gene': 'GCH1', 'score': 4.85}, {'connected_gene': 'LGALS3', 'score': 0.2}, {'connected_gene': 'GC14M054989', 'score': 0.05}]
chr14 GH14I055297 55297801 55298798 0.77 [{'connected_gene': 'CHMP4BP1', 'score': 550.77}, {'connected_gene': 'LOC105370509', 'score': 43.59}, {'connected_gene': 'FBXO34', 'score': 12.01}, {'connected_gene': 'DLGAP5', 'score': 10.61}, {'connected_gene': 'ENSG00000259318', 'score': 5.56}, {'connected_gene': 'ENSG00000278818', 'score': 0.39}, {'connected_gene': 'GC14M054989', 'score': 0.06}]
chr14 GH14I055365 55365566 55367408 0.31 [{'connected_gene': 'PIR52112', 'score': 550.77}, {'connected_gene': 'GC14M055368', 'score': 550.77}, {'connected_gene': 'PIR53477', 'score': 550.77}, {'connected_gene': 'PIR35307', 'score': 550.77}, {'connected_gene': 'LOC105370509', 'score': 42.83}, {'connected_gene': 'DLGAP5', 'score': 11.12}, {'connected_gene': 'TBPL2', 'score': 10.2}, {'connected_gene': 'ENSG00000259318', 'score': 5.73}, {'connected_gene': 'ATG14', 'score': 0.25}, {'connected_gene': 'GC14M054989', 'score': 0.08}]