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
ENST00000329255 [[44281993, 44286733], [44289043, 44289172], [44296897, 44297208], [44331146, 44331716]] [[44286403, 44286733], [44289043, 44289172], [44296897, 44297208], [44331146, 44331612]]
NM_021926 [[44282277, 44286733], [44289043, 44289172], [44296897, 44297208], [44331146, 44331716]] [[44286403, 44286733], [44289043, 44289172], [44296897, 44297208], [44331146, 44331612]]
Promoter
Chrom Start End Description
chr11 44331576 44331650 CAGE_peak_1_at_ALX4_5end
chr11 44331679 44331702 CAGE_peak_2_at_ALX4_5end
chr11 44331735 44331747 CAGE_peak_3_at_ALX4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I044284 44284608 44284674 0.22 [{'connected_gene': 'ALX4', 'score': 2.34}, {'connected_gene': 'PIR47853', 'score': 0.77}, {'connected_gene': 'GC11M044275', 'score': 0.44}]
chr11 GH11I044335 44335047 44335311 0.52 [{'connected_gene': 'ALX4', 'score': 0.37}, {'connected_gene': 'ENSG00000255451', 'score': 0.12}]
chr11 GH11I044305 44305432 44305776 0.59 [{'connected_gene': 'ALX4', 'score': 10.33}, {'connected_gene': 'PIR47853', 'score': 0.37}]
chr11 GH11I044351 44351201 44351600 0.57 [{'connected_gene': 'ALX4', 'score': 0.29}, {'connected_gene': 'ENSG00000255451', 'score': 0.13}]
chr11 GH11I044389 44389201 44389600 0.43 [{'connected_gene': 'ALX4', 'score': 0.19}, {'connected_gene': 'ENSG00000255451', 'score': 0.18}]
chr11 GH11I044316 44316060 44317604 0.59 [{'connected_gene': 'ALX4', 'score': 8.65}, {'connected_gene': 'PIR47853', 'score': 0.29}]
chr11 GH11I044308 44308394 44311362 1.51 [{'connected_gene': 'ALX4', 'score': 565.7}, {'connected_gene': 'PIR47853', 'score': 0.34}]
chr11 GH11I044319 44319856 44320151 0.76 [{'connected_gene': 'ALX4', 'score': 553.63}, {'connected_gene': 'ENSG00000255451', 'score': 0.11}]
chr11 GH11I044306 44306331 44306480 0.43 [{'connected_gene': 'ALX4', 'score': 0.39}, {'connected_gene': 'PIR47853', 'score': 0.37}]
chr11 GH11I044337 44337634 44337814 0.43 [{'connected_gene': 'ALX4', 'score': 2.24}, {'connected_gene': 'ENSG00000255451', 'score': 0.12}]
chr11 GH11I044334 44334811 44335020 0.56 [{'connected_gene': 'ALX4', 'score': 0.37}, {'connected_gene': 'ENSG00000255451', 'score': 0.12}]
chr11 GH11I044320 44319215 44319377 0.52 [{'connected_gene': 'ALX4', 'score': 552.04}, {'connected_gene': 'ENSG00000255451', 'score': 0.11}]
chr11 GH11I044445 44445951 44446100 0.57 [{'connected_gene': 'ALKBH3', 'score': 17.15}, {'connected_gene': 'EXT2', 'score': 17.12}, {'connected_gene': 'SEC14L1P1', 'score': 15.28}, {'connected_gene': 'PPIAP41', 'score': 12.85}, {'connected_gene': 'LOC105376644', 'score': 10.94}, {'connected_gene': 'ENSG00000255451', 'score': 0.34}, {'connected_gene': 'ALX4', 'score': 0.13}]
chr11 GH11I044268 44268377 44272214 1.55 [{'connected_gene': 'EXT2', 'score': 5.7}, {'connected_gene': 'ACCS', 'score': 4.65}, {'connected_gene': 'GC11M044275', 'score': 0.44}, {'connected_gene': 'GC11P044248', 'score': 0.34}, {'connected_gene': 'ALX4', 'score': 0.25}]
chr11 GH11I044508 44508909 44510020 0.31 [{'connected_gene': 'LOC105376645', 'score': 550.77}, {'connected_gene': 'ALX4', 'score': 10.88}, {'connected_gene': 'ENSG00000255092', 'score': 10.42}, {'connected_gene': 'ENSG00000254693', 'score': 10.42}, {'connected_gene': 'ENSG00000255451', 'score': 0.26}]
chr11 GH11I044286 44286411 44286560 0.76 [{'connected_gene': 'PIR47853', 'score': 550.77}, {'connected_gene': 'GC11M044275', 'score': 0.39}, {'connected_gene': 'ALX4', 'score': 0.29}]
chr11 GH11I044457 44457051 44457160 0.43 [{'connected_gene': 'ENSG00000255451', 'score': 0.39}, {'connected_gene': 'ALX4', 'score': 0.12}]
chr11 GH11I044468 44468031 44468200 0.31 [{'connected_gene': 'ENSG00000255451', 'score': 550.77}, {'connected_gene': 'ALX4', 'score': 0.11}]
chr11 GH11I044467 44467531 44467700 0.46 [{'connected_gene': 'ENSG00000255451', 'score': 550.77}, {'connected_gene': 'ALX4', 'score': 0.11}]

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