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
ENST00000369466 [[117602924, 117602996], [117603076, 117603179], [117605008, 117605095], [117616282, 117616349], [117617491, 117618481], [117618801, 117618916], [117619262, 117619445], [117620537, 117620665], [117622189, 117622271], [117624449, 117624569], [117626639, 117626790], [117629038, 117629144], [117631422, 117631604], [117632676, 117632830], [117633153, 117633245], [117633949, 117634032], [117634438, 117634572], [117635352, 117635523], [117637930, 117637989], [117638770, 117638921], [117639972, 117640055], [117641454, 117641529], [117644001, 117650075]] [[117602968, 117602996], [117603076, 117603179], [117605008, 117605095], [117616282, 117616349], [117617491, 117618481], [117618801, 117618916], [117619262, 117619445], [117620537, 117620665], [117622189, 117622271], [117624449, 117624569], [117626639, 117626790], [117629038, 117629144], [117631422, 117631604], [117632676, 117632830], [117633153, 117633245], [117633949, 117634032], [117634438, 117634572], [117635352, 117635523], [117637930, 117637989], [117638770, 117638921], [117639972, 117640055], [117641454, 117641529], [117644001, 117644146]]
ENST00000470935 [[117602983, 117602996], [117603076, 117603183], [117605008, 117605095], [117616282, 117616349], [117617491, 117618066]] None
ENST00000469638 [[117617916, 117618481], [117618801, 117619011]] None
ENST00000492682 [[117635408, 117635523], [117637930, 117637989], [117638770, 117638921], [117640827, 117640860], [117641454, 117641529], [117644001, 117644371]] None
ENST00000463696 [[117637946, 117637989], [117638770, 117638921], [117639972, 117640055], [117640827, 117640860], [117641454, 117641529], [117644001, 117644278]] None
ENST00000427271 [[117638792, 117638921], [117639972, 117640055], [117641454, 117641529], [117644001, 117644184], [117644815, 117644984]] [[117638792, 117638921], [117639972, 117640055], [117641454, 117641529], [117644001, 117644146]]
ENST00000480701 [[117640867, 117641529], [117644001, 117644322]] None
NM_003594 [[117602948, 117602996], [117603076, 117603179], [117605008, 117605095], [117616282, 117616349], [117617491, 117618481], [117618801, 117618916], [117619262, 117619445], [117620537, 117620665], [117622189, 117622271], [117624449, 117624569], [117626639, 117626790], [117629038, 117629144], [117631422, 117631604], [117632676, 117632830], [117633153, 117633245], [117633949, 117634032], [117634438, 117634572], [117635352, 117635523], [117637930, 117637989], [117638770, 117638921], [117639972, 117640055], [117641454, 117641529], [117644001, 117645492]] [[117602968, 117602996], [117603076, 117603179], [117605008, 117605095], [117616282, 117616349], [117617491, 117618481], [117618801, 117618916], [117619262, 117619445], [117620537, 117620665], [117622189, 117622271], [117624449, 117624569], [117626639, 117626790], [117629038, 117629144], [117631422, 117631604], [117632676, 117632830], [117633153, 117633245], [117633949, 117634032], [117634438, 117634572], [117635352, 117635523], [117637930, 117637989], [117638770, 117638921], [117639972, 117640055], [117641454, 117641529], [117644001, 117644146]]
Promoter
Chrom Start End Description
chr1 117602932 117602973 CAGE_peak_1_at_TTF2_5end
chr1 117602977 117602984 CAGE_peak_3_at_TTF2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I116569 116569182 116572275 2.54 [{'connected_gene': 'CD58', 'score': 559.08}, {'connected_gene': 'MAN1A2', 'score': 11.52}, {'connected_gene': 'TRIM45', 'score': 9.93}, {'connected_gene': 'ATP1A1-AS1', 'score': 5.58}, {'connected_gene': 'ATP1A1', 'score': 4.84}, {'connected_gene': 'IGSF3', 'score': 4.41}, {'connected_gene': 'CD101', 'score': 3.64}, {'connected_gene': 'TTF2', 'score': 1.71}, {'connected_gene': 'MIR548AC', 'score': 0.39}]
chr1 GH01I116815 116815663 116817063 1.15 [{'connected_gene': 'CD2', 'score': 3.73}, {'connected_gene': 'TTF2', 'score': 2.21}, {'connected_gene': 'FTH1P22', 'score': 0.26}, {'connected_gene': 'LOC105378927', 'score': 0.2}]
chr1 GH01I116752 116752924 116773029 2.16 [{'connected_gene': 'CD2', 'score': 557.88}, {'connected_gene': 'ATP1A1', 'score': 2.82}, {'connected_gene': 'TTF2', 'score': 1.93}, {'connected_gene': 'FTH1P22', 'score': 0.39}]
chr1 GH01I117076 117076404 117078223 0.98 [{'connected_gene': 'TTF2', 'score': 12.8}, {'connected_gene': 'TRIM45', 'score': 11.09}, {'connected_gene': 'CD101', 'score': 3.4}, {'connected_gene': 'MIR942', 'score': 0.37}]
chr1 GH01I116736 116736774 116741337 1.53 [{'connected_gene': 'TTF2', 'score': 12.79}, {'connected_gene': 'LOC101929099', 'score': 11.2}, {'connected_gene': 'CD101', 'score': 9.08}, {'connected_gene': 'IGSF3', 'score': 4.71}, {'connected_gene': 'ATP1A1', 'score': 4.34}, {'connected_gene': 'CD2', 'score': 4.17}, {'connected_gene': 'NEFHP1', 'score': 0.77}, {'connected_gene': 'GC01M116740', 'score': 0.77}, {'connected_gene': 'GAPDHP64', 'score': 0.34}]
chr1 GH01I117058 117058483 117062843 2.07 [{'connected_gene': 'TTF2', 'score': 577.42}, {'connected_gene': 'LOC101929099', 'score': 556.39}, {'connected_gene': 'WDR3', 'score': 36.07}, {'connected_gene': 'GDAP2', 'score': 26.56}, {'connected_gene': 'MAN1A2', 'score': 11.41}, {'connected_gene': 'ATP1A1-AS1', 'score': 10.46}, {'connected_gene': 'CD101', 'score': 4.92}, {'connected_gene': 'MIR942', 'score': 0.29}]
chr1 GH01I117114 117114004 117115201 0.49 [{'connected_gene': 'TRIM45', 'score': 5.67}, {'connected_gene': 'TTF2', 'score': 5.01}, {'connected_gene': 'PIR35685', 'score': 0.77}, {'connected_gene': 'MIR942', 'score': 0.37}]
chr1 GH01I117120 117120674 117123582 2.02 [{'connected_gene': 'TRIM45', 'score': 560.67}, {'connected_gene': 'WDR3', 'score': 49.57}, {'connected_gene': 'ATP1A1-AS1', 'score': 18.19}, {'connected_gene': 'VTCN1', 'score': 16.37}, {'connected_gene': 'ENSG00000212266', 'score': 8.63}, {'connected_gene': 'TTF2', 'score': 4.98}, {'connected_gene': 'PIR35685', 'score': 0.77}]
chr1 GH01I117096 117096621 117098260 0.62 [{'connected_gene': 'TRIM45', 'score': 11.14}, {'connected_gene': 'MIR942', 'score': 0.77}, {'connected_gene': 'PIR35685', 'score': 0.34}, {'connected_gene': 'TTF2', 'score': 0.28}]
chr1 GH01I116981 116981164 116984191 0.92 [{'connected_gene': 'PTGFRN', 'score': 8.52}, {'connected_gene': 'TTF2', 'score': 5.34}, {'connected_gene': 'CD101', 'score': 0.37}, {'connected_gene': 'RNA5SP55', 'score': 0.34}]
chr1 GH01I116721 116721877 116723208 0.69 [{'connected_gene': 'C1orf137', 'score': 11.23}, {'connected_gene': 'TTF2', 'score': 11.08}, {'connected_gene': 'LOC101929099', 'score': 11.08}, {'connected_gene': 'CD2', 'score': 10.86}, {'connected_gene': 'IGSF3', 'score': 10.82}, {'connected_gene': 'MIR320B1', 'score': 10.82}, {'connected_gene': 'CD101', 'score': 9.97}, {'connected_gene': 'GAPDHP64', 'score': 0.44}, {'connected_gene': 'GC01M116740', 'score': 0.34}]
chr1 GH01I116586 116586803 116587108 0.89 [{'connected_gene': 'IGSF3', 'score': 10.88}, {'connected_gene': 'MIR320B1', 'score': 10.88}, {'connected_gene': 'CD58', 'score': 4.67}, {'connected_gene': 'TTF2', 'score': 1.97}, {'connected_gene': 'LOC105378924', 'score': 0.77}]
chr1 GH01I116877 116877161 116880253 1.54 [{'connected_gene': 'MAN1A2', 'score': 41.25}, {'connected_gene': 'ATP1A1-AS1', 'score': 39.48}, {'connected_gene': 'PTGFRN', 'score': 11.39}, {'connected_gene': 'CD2', 'score': 10.77}, {'connected_gene': 'CD101', 'score': 10.29}, {'connected_gene': 'TRIM45', 'score': 9.97}, {'connected_gene': 'TTF2', 'score': 1.63}, {'connected_gene': 'LOC105378927', 'score': 0.77}, {'connected_gene': 'FTH1P22', 'score': 0.15}]
chr1 GH01I116122 116122598 116123483 0.9 [{'connected_gene': 'LOC105378918', 'score': 550.77}, {'connected_gene': 'ENSG00000237993', 'score': 9.61}, {'connected_gene': 'TTF2', 'score': 5.48}, {'connected_gene': 'GC01P116110', 'score': 0.39}, {'connected_gene': 'MAB21L3', 'score': 0.25}]
chr1 GH01I117128 117128401 117129000 0.56 [{'connected_gene': 'MIR942', 'score': 10.37}, {'connected_gene': 'TTF2', 'score': 10.28}, {'connected_gene': 'MAN1A2', 'score': 9.43}, {'connected_gene': 'VTCN1', 'score': 8.28}, {'connected_gene': 'TRIM45', 'score': 0.44}, {'connected_gene': 'RPS15AP9', 'score': 0.44}]
chr1 GH01I117070 117070419 117070568 0.46 [{'connected_gene': 'MIR942', 'score': 11.47}, {'connected_gene': 'TRIM45', 'score': 11.18}, {'connected_gene': 'TTF2', 'score': 0.39}]
chr1 GH01I117071 117070179 117070328 0.57 [{'connected_gene': 'MIR942', 'score': 11.47}, {'connected_gene': 'TRIM45', 'score': 11.18}, {'connected_gene': 'TTF2', 'score': 0.44}]
chr1 GH01I117091 117091875 117095488 1.08 [{'connected_gene': 'MIR942', 'score': 550.77}, {'connected_gene': 'TRIM45', 'score': 7.48}, {'connected_gene': 'TTF2', 'score': 6.82}]
chr1 GH01I117069 117069457 117070024 0.46 [{'connected_gene': 'MIR942', 'score': 11.47}, {'connected_gene': 'TRIM45', 'score': 11.18}, {'connected_gene': 'TTF2', 'score': 9.94}]
chr1 GH01I116432 116432435 116434566 1.05 [{'connected_gene': 'ENSG00000230381', 'score': 550.77}, {'connected_gene': 'TTF2', 'score': 4.18}, {'connected_gene': 'GC01P116453', 'score': 0.37}, {'connected_gene': 'LINC01762', 'score': 0.25}]