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
ENST00000336596 [[89156673, 89156986], [89176358, 89176423], [89259009, 89259670], [89390065, 89390221], [89390904, 89391240], [89444986, 89445111], [89448467, 89448630], [89456418, 89456521], [89457216, 89457281], [89462290, 89462416], [89468354, 89468540], [89478255, 89478317], [89480299, 89480509], [89498374, 89498524], [89499326, 89499520], [89521613, 89521769], [89528546, 89531284]] [[89156898, 89156986], [89176358, 89176423], [89259009, 89259670], [89390065, 89390221], [89390904, 89391240], [89444986, 89445111], [89448467, 89448630], [89456418, 89456521], [89457216, 89457281], [89462290, 89462416], [89468354, 89468540], [89478255, 89478317], [89480299, 89480509], [89498374, 89498524], [89499326, 89499520], [89521613, 89521769], [89528546, 89528652]]
ENST00000452448 [[89156811, 89156986], [89176358, 89176423], [89259009, 89259670], [89390065, 89390221], [89390904, 89391240], [89444986, 89445111], [89448467, 89449495]] [[89156898, 89156986], [89176358, 89176423], [89259009, 89259670], [89390065, 89390221], [89390904, 89391240], [89444986, 89445111], [89448467, 89448656]]
ENST00000494014 [[89156825, 89156986], [89176358, 89176423], [89259009, 89259670], [89390065, 89390221], [89390904, 89391240], [89444986, 89445111], [89448467, 89448630], [89456418, 89456521], [89457216, 89457281], [89462290, 89462416], [89468354, 89468540], [89478255, 89478317], [89480299, 89480509], [89498374, 89498524], [89499326, 89499520], [89521613, 89521672], [89528546, 89528809]] [[89156898, 89156986], [89176358, 89176423], [89259009, 89259670], [89390065, 89390221], [89390904, 89391240], [89444986, 89445111], [89448467, 89448630], [89456418, 89456521], [89457216, 89457281], [89462290, 89462416], [89468354, 89468540], [89478255, 89478317], [89480299, 89480509], [89498374, 89498524], [89499326, 89499520], [89521613, 89521672], [89528546, 89528554]]
NM_182644 [[89156673, 89156986], [89176358, 89176423], [89259009, 89259670], [89390065, 89390221], [89390904, 89391240], [89444986, 89445111], [89448467, 89449495]] [[89156898, 89156986], [89176358, 89176423], [89259009, 89259670], [89390065, 89390221], [89390904, 89391240], [89444986, 89445111], [89448467, 89448656]]
NM_005233 [[89156673, 89156986], [89176358, 89176423], [89259009, 89259670], [89390065, 89390221], [89390904, 89391240], [89444986, 89445111], [89448467, 89448630], [89456418, 89456521], [89457216, 89457281], [89462290, 89462416], [89468354, 89468540], [89478255, 89478317], [89480299, 89480509], [89498374, 89498524], [89499326, 89499520], [89521613, 89521769], [89528546, 89531284]] [[89156898, 89156986], [89176358, 89176423], [89259009, 89259670], [89390065, 89390221], [89390904, 89391240], [89444986, 89445111], [89448467, 89448630], [89456418, 89456521], [89457216, 89457281], [89462290, 89462416], [89468354, 89468540], [89478255, 89478317], [89480299, 89480509], [89498374, 89498524], [89499326, 89499520], [89521613, 89521769], [89528546, 89528652]]
Promoter
Chrom Start End Description
chr3 89156763 89156797 CAGE_peak_1_at_EPHA3_5end
chr3 89156799 89156831 CAGE_peak_3_at_EPHA3_5end
chr3 89156832 89156848 CAGE_peak_2_at_EPHA3_5end
chr3 89156872 89156883 CAGE_peak_4_at_EPHA3_5end
chr3 89156891 89156894 CAGE_peak_5_at_EPHA3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I089303 89303503 89303900 0.23 [{'connected_gene': 'EPHA3', 'score': 9.55}, {'connected_gene': 'GC03M089148', 'score': 0.31}, {'connected_gene': 'GC03P089376', 'score': 0.19}]
chr3 GH03I088689 88689652 88691829 0.2 [{'connected_gene': 'EPHA3', 'score': 5.1}, {'connected_gene': 'GC03P088710', 'score': 0.37}, {'connected_gene': 'GC03P088601', 'score': 0.17}]
chr3 GH03I089113 89113718 89116378 1.03 [{'connected_gene': 'EPHA3', 'score': 0.44}, {'connected_gene': 'GC03P089148', 'score': 0.29}]
chr3 GH03I089107 89107201 89107801 1.83 [{'connected_gene': 'EPHA3', 'score': 550.77}, {'connected_gene': 'GC03M089046', 'score': 0.22}]
chr3 GH03I089104 89104401 89104800 0.2 [{'connected_gene': 'EPHA3', 'score': 0.77}, {'connected_gene': 'GC03M089046', 'score': 0.23}]
chr3 GH03I089108 89108000 89108200 0.84 [{'connected_gene': 'EPHA3', 'score': 550.77}, {'connected_gene': 'GC03P089148', 'score': 0.26}]
chr3 GH03I089332 89332911 89333060 0.2 [{'connected_gene': 'GC03P089376', 'score': 0.26}, {'connected_gene': 'GC03M089148', 'score': 0.22}, {'connected_gene': 'EPHA3', 'score': 0.07}]
chr3 GH03I089165 89165251 89166219 0.31 [{'connected_gene': 'PIR57790', 'score': 0.77}, {'connected_gene': 'GC03P089171', 'score': 0.77}, {'connected_gene': 'GC03P089148', 'score': 0.37}, {'connected_gene': 'EPHA3', 'score': 0.22}, {'connected_gene': 'GC03M089148', 'score': 0.14}]
chr3 GH03I089246 89246451 89246600 0.38 [{'connected_gene': 'GC03M089268', 'score': 0.31}, {'connected_gene': 'GC03M089148', 'score': 0.29}, {'connected_gene': 'GC03P089203', 'score': 0.26}, {'connected_gene': 'EPHA3', 'score': 0.12}]
chr3 GH03I089278 89278244 89278684 0.43 [{'connected_gene': 'GC03M089148', 'score': 550.77}, {'connected_gene': 'GC03P089376', 'score': 0.15}, {'connected_gene': 'EPHA3', 'score': 0.09}]
chr3 GH03I089419 89419873 89420298 0.2 [{'connected_gene': 'GC03P089398', 'score': 0.34}, {'connected_gene': 'GC03M089485', 'score': 0.2}, {'connected_gene': 'EPHA3', 'score': 0.06}]
chr3 GH03I089172 89172191 89172340 0.31 [{'connected_gene': 'PIR57790', 'score': 550.77}, {'connected_gene': 'GC03P089171', 'score': 550.77}, {'connected_gene': 'PIR35446', 'score': 0.37}, {'connected_gene': 'GC03P089201', 'score': 0.37}, {'connected_gene': 'GC03P089199', 'score': 0.37}, {'connected_gene': 'EPHA3', 'score': 0.21}, {'connected_gene': 'GC03M089148', 'score': 0.15}]
chr3 GH03I089466 89466601 89466800 0.2 [{'connected_gene': 'GC03M089485', 'score': 0.34}, {'connected_gene': 'GC03P089398', 'score': 0.2}, {'connected_gene': 'EPHA3', 'score': 0.05}]
chr3 GH03I089171 89171791 89171940 0.2 [{'connected_gene': 'PIR57790', 'score': 550.77}, {'connected_gene': 'GC03P089171', 'score': 550.77}, {'connected_gene': 'PIR35446', 'score': 0.37}, {'connected_gene': 'GC03P089201', 'score': 0.37}, {'connected_gene': 'GC03P089199', 'score': 0.37}, {'connected_gene': 'EPHA3', 'score': 0.21}, {'connected_gene': 'GC03M089148', 'score': 0.15}]
chr3 GH03I089179 89179264 89180463 0.72 [{'connected_gene': 'PIR57790', 'score': 0.44}, {'connected_gene': 'PIR35446', 'score': 0.44}, {'connected_gene': 'GC03P089171', 'score': 0.44}, {'connected_gene': 'GC03P089201', 'score': 0.44}, {'connected_gene': 'GC03P089199', 'score': 0.44}, {'connected_gene': 'EPHA3', 'score': 0.19}, {'connected_gene': 'GC03M089148', 'score': 0.15}]
chr3 GH03I089216 89216870 89217856 0.43 [{'connected_gene': 'GC03P089203', 'score': 0.39}, {'connected_gene': 'GC03M089148', 'score': 0.22}, {'connected_gene': 'GC03M089268', 'score': 0.22}, {'connected_gene': 'EPHA3', 'score': 0.14}]