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
ENST00000393167 [[114384805, 114384977], [114386130, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398582], [114398932, 114399027], [114399357, 114399441], [114399607, 114400973]] [[114386183, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398582], [114398932, 114399027], [114399357, 114399441], [114399607, 114399706]]
ENST00000409842 [[114384816, 114384977], [114386126, 114386290], [114390491, 114390521], [114391729, 114391809], [114398929, 114399027], [114399357, 114399441], [114399607, 114400969]] [[114386183, 114386290], [114390491, 114390521], [114391729, 114391809], [114398929, 114399027], [114399357, 114399441], [114399607, 114399706]]
ENST00000413545 [[114384820, 114384977], [114386126, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398515]] [[114386183, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398515]]
ENST00000393165 [[114384820, 114384977], [114386130, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398582], [114398929, 114399027], [114399357, 114399441], [114399607, 114399722], [114400766, 114400968]] [[114386183, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398582], [114398929, 114399027], [114399357, 114399441], [114399607, 114399706]]
ENST00000450954 [[114384840, 114384977], [114386126, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398929, 114399057], [114399357, 114399441], [114399607, 114400945]] [[114386183, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398929, 114398938]]
ENST00000467600 [[114384852, 114384977], [114386126, 114386290], [114390491, 114390521], [114391729, 114391809], [114392604, 114393090]] None
ENST00000452831 [[114384859, 114384977], [114386130, 114386290], [114390491, 114390521], [114391733, 114391809], [114392627, 114392707], [114398929, 114399027], [114399357, 114399441], [114399607, 114400905]] [[114386183, 114386290], [114390491, 114390521], [114391733, 114391761]]
ENST00000465711 [[114384863, 114384977], [114386126, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114394875, 114395324]] None
ENST00000393166 [[114384883, 114384977], [114386130, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398582], [114398932, 114399027], [114399357, 114399441], [114399607, 114399722], [114400766, 114400968]] [[114386183, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398582], [114398932, 114399027], [114399357, 114399441], [114399607, 114399706]]
ENST00000409875 [[114384887, 114384977], [114385432, 114385587], [114386126, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398582], [114398932, 114399057], [114399357, 114399441], [114399607, 114400969]] [[114386183, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398582], [114398932, 114399057], [114399357, 114399441], [114399607, 114399706]]
ENST00000376439 [[114384963, 114384977], [114386130, 114386290], [114390491, 114390521], [114391729, 114391809], [114398929, 114399027], [114399357, 114399441], [114399607, 114399722], [114400766, 114400808]] [[114386183, 114386290], [114390491, 114390521], [114391729, 114391809], [114398929, 114399027], [114399357, 114399441], [114399607, 114399706]]
ENST00000409121 [[114385904, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398582], [114398929, 114399027], [114399357, 114399441], [114399607, 114400969]] None
ENST00000493876 [[114386146, 114386290], [114390491, 114390521], [114391729, 114392197]] None
ENST00000476236 [[114386162, 114386290], [114390491, 114391472]] None
ENST00000477218 [[114392627, 114392707], [114398470, 114398965]] None
ENST00000478880 [[114394943, 114395063], [114398470, 114398582], [114398929, 114399027], [114399357, 114399441], [114399607, 114400969]] None
ENST00000494909 [[114397596, 114399057], [114399357, 114399441], [114399607, 114400966]] None
ENST00000486403 [[114397984, 114399027], [114399357, 114399441], [114399607, 114400966]] None
NM_007082 [[114384805, 114384977], [114386130, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398582], [114398932, 114399027], [114399357, 114399441], [114399607, 114399722], [114400766, 114400975]] [[114386183, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398582], [114398932, 114399027], [114399357, 114399441], [114399607, 114399706]]
NM_013412 [[114384805, 114384977], [114386130, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398582], [114398932, 114399027], [114399357, 114399441], [114399607, 114400975]] [[114386183, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398582], [114398932, 114399027], [114399357, 114399441], [114399607, 114399706]]
NM_001306159 [[114384805, 114384977], [114386130, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398582], [114398929, 114399027], [114399357, 114399441], [114399607, 114399722], [114400766, 114400975]] [[114386183, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398582], [114398929, 114399027], [114399357, 114399441], [114399607, 114399706]]
NM_001306158 [[114384805, 114384977], [114386130, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398582], [114398929, 114399027], [114399357, 114399441], [114399607, 114400975]] [[114386183, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398582], [114398929, 114399027], [114399357, 114399441], [114399607, 114399706]]
NM_001306161 [[114384805, 114384977], [114386126, 114386290], [114390491, 114390521], [114391729, 114391809], [114398929, 114399027], [114399357, 114399441], [114399607, 114400975]] [[114386183, 114386290], [114390491, 114390521], [114391729, 114391809], [114398929, 114399027], [114399357, 114399441], [114399607, 114399706]]
NM_001306160 [[114386130, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398582], [114398932, 114399057], [114399357, 114399441], [114399607, 114399722]] [[114386183, 114386290], [114390491, 114390521], [114391729, 114391809], [114392627, 114392707], [114398470, 114398582], [114398932, 114399057], [114399357, 114399441], [114399607, 114399706]]
Promoter
Chrom Start End Description
chr2 114384837 114384859 CAGE_peak_1_at_RABL2A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I113602 113602964 113604982 1.01 [{'connected_gene': 'DDX11L2', 'score': 587.68}, {'connected_gene': 'RPL23AP7', 'score': 21.49}, {'connected_gene': 'RABL2A', 'score': 10.93}, {'connected_gene': 'ENSG00000227359', 'score': 9.94}, {'connected_gene': 'PAX8-AS1', 'score': 4.68}, {'connected_gene': 'PSD4', 'score': 4.44}, {'connected_gene': 'FOXD4L1', 'score': 4.34}, {'connected_gene': 'ENSG00000279267', 'score': 0.77}]
chr2 GH02I113582 113582411 113585356 1.57 [{'connected_gene': 'WASH2P', 'score': 564.64}, {'connected_gene': 'MIR1302-3', 'score': 550.77}, {'connected_gene': 'RABL2A', 'score': 24.73}, {'connected_gene': 'RPS20P11', 'score': 10.37}, {'connected_gene': 'RNU6-744P', 'score': 10.25}, {'connected_gene': 'ENSG00000233479', 'score': 4.5}, {'connected_gene': 'DDX11L2', 'score': 0.37}]
chr2 GH02I112867 112867432 112871048 1.38 [{'connected_gene': 'IL1B', 'score': 26.0}, {'connected_gene': 'WASH2P', 'score': 23.05}, {'connected_gene': 'IL1A', 'score': 20.83}, {'connected_gene': 'RABL2A', 'score': 16.67}, {'connected_gene': 'IL37', 'score': 15.92}, {'connected_gene': 'RGPD8', 'score': 12.95}, {'connected_gene': 'CKAP2L', 'score': 11.05}, {'connected_gene': 'ZC3H8', 'score': 10.53}, {'connected_gene': 'PIR40727', 'score': 0.39}, {'connected_gene': 'XIAPP3', 'score': 0.37}]
chr2 GH02I113164 113164695 113170046 1.64 [{'connected_gene': 'PSD4', 'score': 20.67}, {'connected_gene': 'RABL2A', 'score': 11.07}, {'connected_gene': 'PAX8-AS1', 'score': 10.96}, {'connected_gene': 'RGPD8', 'score': 10.66}, {'connected_gene': 'RNU6-1180P', 'score': 10.45}, {'connected_gene': 'ZC3H6', 'score': 10.16}, {'connected_gene': 'IL1RN', 'score': 5.29}, {'connected_gene': 'IL1B', 'score': 3.93}, {'connected_gene': 'IL1A', 'score': 3.57}, {'connected_gene': 'IL36B', 'score': 2.1}, {'connected_gene': 'IL36G', 'score': 1.76}, {'connected_gene': 'CBWD2', 'score': 1.26}, {'connected_gene': 'ENSG00000234174', 'score': 0.44}]
chr2 GH02I113626 113626547 113628001 1.85 [{'connected_gene': 'RABL2A', 'score': 567.95}, {'connected_gene': 'RPL23AP7', 'score': 561.58}, {'connected_gene': 'PIR42427', 'score': 550.77}, {'connected_gene': 'DDX11L2', 'score': 25.27}]