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
ENST00000317995 [[61099905, 61102544], [61121308, 61121478], [61135207, 61135320], [61137095, 61137144], [61139431, 61139494], [61144842, 61144938], [61178483, 61178608], [61192247, 61192439], [61193606, 61193971]] [[61121343, 61121478], [61135207, 61135320], [61137095, 61137144], [61139431, 61139494], [61144842, 61144938], [61178483, 61178608], [61192247, 61192439], [61193606, 61193706]]
ENST00000524872 [[61120629, 61121478], [61135207, 61135320], [61137095, 61137144], [61139431, 61139494], [61144842, 61144938], [61178483, 61178608], [61192247, 61192439], [61193606, 61193944]] None
ENST00000528666 [[61135207, 61135320], [61137095, 61137144], [61139431, 61139494], [61144842, 61144938], [61145043, 61145232]] None
ENST00000529918 [[61177380, 61178608], [61192247, 61192439], [61193606, 61193883]] None
NR_135821 [[61097978, 61102544], [61121308, 61121478], [61134866, 61134916], [61135207, 61135320], [61137095, 61137144], [61139431, 61139494], [61144842, 61144938], [61178483, 61178608], [61192247, 61192439], [61193606, 61193982]] None
NM_004056 [[61097978, 61102544], [61121308, 61121478], [61135207, 61135320], [61137095, 61137144], [61139431, 61139494], [61144842, 61144938], [61178483, 61178608], [61192247, 61192439], [61193606, 61193982]] [[61121343, 61121478], [61135207, 61135320], [61137095, 61137144], [61139431, 61139494], [61144842, 61144938], [61178483, 61178608], [61192247, 61192439], [61193606, 61193706]]
NM_001321839 [[61097978, 61102544], [61121308, 61121478], [61135207, 61135320], [61137095, 61137144], [61139431, 61139494], [61178483, 61178608], [61192247, 61192439], [61193606, 61193982]] [[61121343, 61121478], [61135207, 61135320], [61137095, 61137144], [61139431, 61139494], [61178483, 61178608], [61192247, 61192439], [61193606, 61193706]]
NM_001321838 [[61118583, 61121478], [61134866, 61134916], [61135207, 61135320], [61137095, 61137144], [61139431, 61139494], [61144842, 61144938], [61178483, 61178608], [61192247, 61192439], [61193606, 61193982]] [[61121474, 61121478], [61134866, 61134916], [61135207, 61135320], [61137095, 61137144], [61139431, 61139494], [61144842, 61144938], [61178483, 61178608], [61192247, 61192439], [61193606, 61193706]]
NM_001321837 [[61118583, 61121478], [61135207, 61135320], [61137095, 61137144], [61139431, 61139494], [61144842, 61144938], [61178483, 61178608], [61192247, 61192439], [61193606, 61193982]] [[61121343, 61121478], [61135207, 61135320], [61137095, 61137144], [61139431, 61139494], [61144842, 61144938], [61178483, 61178608], [61192247, 61192439], [61193606, 61193706]]
Promoter
Chrom Start End Description
chr8 61193947 61193965 CAGE_peak_1_at_CA8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I060238 60238642 60238791 0.2 [{'connected_gene': 'CA8', 'score': 11.22}, {'connected_gene': 'PIR40544', 'score': 0.37}, {'connected_gene': 'SLC2A13P1', 'score': 0.15}]
chr8 GH08I060239 60238122 60238411 0.63 [{'connected_gene': 'CA8', 'score': 26.7}, {'connected_gene': 'PIR40544', 'score': 0.37}, {'connected_gene': 'SLC2A13P1', 'score': 0.15}]
chr8 GH08I060197 60197054 60198795 0.49 [{'connected_gene': 'CA8', 'score': 10.23}, {'connected_gene': 'PIR40544', 'score': 0.22}, {'connected_gene': 'SLC2A13P1', 'score': 0.22}]
chr8 GH08I060237 60237838 60238103 0.52 [{'connected_gene': 'CA8', 'score': 11.22}, {'connected_gene': 'PIR40544', 'score': 0.37}, {'connected_gene': 'SLC2A13P1', 'score': 0.15}]
chr8 GH08I060330 60330362 60330511 0.85 [{'connected_gene': 'CA8', 'score': 0.25}, {'connected_gene': 'PIR50018', 'score': 0.25}, {'connected_gene': 'LOC105375864', 'score': 0.23}]
chr8 GH08I060286 60286202 60286328 0.49 [{'connected_gene': 'CA8', 'score': 0.77}, {'connected_gene': 'GC08P060266', 'score': 0.37}, {'connected_gene': 'PIR50018', 'score': 0.17}, {'connected_gene': 'LOC105375864', 'score': 0.15}]
chr8 GH08I060225 60225286 60227096 0.46 [{'connected_gene': 'CA8', 'score': 11.0}, {'connected_gene': 'LINC01301', 'score': 5.02}, {'connected_gene': 'PIR40544', 'score': 0.29}, {'connected_gene': 'SLC2A13P1', 'score': 0.18}]
chr8 GH08I060233 60233322 60233511 0.56 [{'connected_gene': 'CA8', 'score': 10.67}, {'connected_gene': 'LINC01301', 'score': 4.81}, {'connected_gene': 'PIR40544', 'score': 0.34}, {'connected_gene': 'SLC2A13P1', 'score': 0.16}]
chr8 GH08I060236 60236422 60237634 0.65 [{'connected_gene': 'CA8', 'score': 16.25}, {'connected_gene': 'LINC01301', 'score': 4.99}, {'connected_gene': 'PIR40544', 'score': 0.37}, {'connected_gene': 'SLC2A13P1', 'score': 0.15}]
chr8 GH08I060396 60396962 60397111 0.68 [{'connected_gene': 'CA8', 'score': 10.58}, {'connected_gene': 'GC08M060388', 'score': 0.44}, {'connected_gene': 'GC08M060401', 'score': 0.37}, {'connected_gene': 'LINC01301', 'score': 0.13}]
chr8 GH08I060397 60396302 60396451 0.31 [{'connected_gene': 'CA8', 'score': 10.44}, {'connected_gene': 'GC08M060388', 'score': 0.44}, {'connected_gene': 'GC08M060401', 'score': 0.37}, {'connected_gene': 'LINC01301', 'score': 0.13}]
chr8 GH08I060277 60277797 60278750 0.64 [{'connected_gene': 'CA8', 'score': 10.81}, {'connected_gene': 'GC08M060274', 'score': 0.77}, {'connected_gene': 'GC08P060266', 'score': 0.39}]
chr8 GH08I060280 60280413 60282400 1.99 [{'connected_gene': 'CA8', 'score': 566.49}, {'connected_gene': 'GC08M060274', 'score': 0.44}, {'connected_gene': 'GC08P060266', 'score': 0.39}]
chr8 GH08I060210 60210132 60211896 0.38 [{'connected_gene': 'LINC01301', 'score': 3.98}, {'connected_gene': 'PIR40544', 'score': 0.25}, {'connected_gene': 'SLC2A13P1', 'score': 0.2}, {'connected_gene': 'CA8', 'score': 0.19}]
chr8 GH08I060375 60375042 60375131 0.2 [{'connected_gene': 'PIR50018', 'score': 550.77}, {'connected_gene': 'CA8', 'score': 11.59}, {'connected_gene': 'GC08M060374', 'score': 0.44}, {'connected_gene': 'LOC105375864', 'score': 0.39}]
chr8 GH08I060650 60650788 60654386 1.8 [{'connected_gene': 'ENSG00000254869', 'score': 550.77}, {'connected_gene': 'CHD7', 'score': 15.26}, {'connected_gene': 'RAB2A', 'score': 14.44}, {'connected_gene': 'CLVS1', 'score': 10.43}, {'connected_gene': 'ENSG00000255321', 'score': 9.99}, {'connected_gene': 'CA8', 'score': 1.18}, {'connected_gene': 'ENSG00000228862', 'score': 0.37}]