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
ENST00000264254 [[101179151, 101179535], [101182964, 101183091], [101185392, 101185483], [101186039, 101186183], [101188051, 101188260], [101192815, 101193197]] [[101179529, 101179535], [101182964, 101183091], [101185392, 101185483], [101186039, 101186183], [101188051, 101188260], [101192815, 101192958]]
ENST00000416255 [[101179719, 101179971], [101182964, 101183091], [101185392, 101185483], [101186039, 101186183], [101188051, 101188094]] [[101185409, 101185483], [101186039, 101186183], [101188051, 101188094]]
ENST00000450127 [[101185416, 101185483], [101186039, 101186183], [101188051, 101188502]] [[101185416, 101185483], [101186039, 101186183], [101188051, 101188292]]
NM_024065 [[101179417, 101179535], [101182964, 101183091], [101185392, 101185483], [101186039, 101186183], [101188051, 101188260], [101192815, 101193201]] [[101179529, 101179535], [101182964, 101183091], [101185392, 101185483], [101186039, 101186183], [101188051, 101188260], [101192815, 101192958]]
Promoter
Chrom Start End Description
chr2 101179263 101179284 CAGE_peak_3_at_PDCL3_5end
chr2 101179291 101179310 CAGE_peak_5_at_PDCL3_5end
chr2 101179372 101179381 CAGE_peak_4_at_PDCL3_5end
chr2 101179403 101179470 CAGE_peak_1_at_PDCL3_5end
chr2 101179484 101179502 CAGE_peak_2_at_PDCL3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I100588 100588001 100588600 1.38 [{'connected_gene': 'PDCL3', 'score': 13.19}, {'connected_gene': 'CHST10', 'score': 10.3}, {'connected_gene': 'RPL31', 'score': 1.44}, {'connected_gene': 'HMGN2P22', 'score': 0.77}]
chr2 GH02I100579 100579981 100582189 1.14 [{'connected_gene': 'PDCL3', 'score': 11.08}, {'connected_gene': 'RPL31', 'score': 2.15}, {'connected_gene': 'HMGN2P22', 'score': 0.39}]
chr2 GH02I100584 100584826 100585187 0.34 [{'connected_gene': 'PDCL3', 'score': 12.46}, {'connected_gene': 'NMS', 'score': 2.71}, {'connected_gene': 'HMGN2P22', 'score': 0.44}]
chr2 GH02I100561 100561335 100564255 2.07 [{'connected_gene': 'PDCL3', 'score': 566.53}, {'connected_gene': 'HMGN2P22', 'score': 0.31}]
chr2 GH02I100603 100603623 100603736 0.53 [{'connected_gene': 'LINC01849', 'score': 550.77}, {'connected_gene': 'PDCL3', 'score': 11.18}, {'connected_gene': 'RPL31', 'score': 11.18}, {'connected_gene': 'ENSG00000223947', 'score': 11.18}, {'connected_gene': 'GC02P100600', 'score': 0.77}]

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