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
ENST00000288607 [[1606965, 1607486], [1608759, 1609629]] [[1607333, 1607486], [1608759, 1608975]]
ENST00000404674 [[1606986, 1607486], [1608759, 1608996], [1609644, 1609681]] [[1607333, 1607486], [1608759, 1608975]]
ENST00000252329 [[1607248, 1607486], [1608759, 1608996], [1610109, 1610641]] [[1607333, 1607486], [1608759, 1608975]]
NM_032302 [[1606967, 1607486], [1608759, 1609629]] [[1607333, 1607486], [1608759, 1608975]]
NM_001134340 [[1606967, 1607486], [1608759, 1608996], [1609644, 1609668]] [[1607333, 1607486], [1608759, 1608975]]
Promoter
Chrom Start End Description
chr7 1609591 1609690 CAGE_peak_1_at_PSMG3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I002038 2037026 2037115 0.49 [{'connected_gene': 'PSMG3', 'score': 5.89}, {'connected_gene': 'GC07M001999', 'score': 0.28}, {'connected_gene': 'GC07M002088', 'score': 0.22}, {'connected_gene': 'MAD1L1', 'score': 0.08}]
chr7 GH07I002023 2023932 2024813 0.79 [{'connected_gene': 'PSMG3', 'score': 5.89}, {'connected_gene': 'NUDT1', 'score': 5.19}, {'connected_gene': 'GC07M001999', 'score': 0.34}, {'connected_gene': 'GC07M002088', 'score': 0.2}, {'connected_gene': 'MAD1L1', 'score': 0.08}]
chr7 GH07I001451 1451422 1452088 0.2 [{'connected_gene': 'PSMG3', 'score': 11.21}, {'connected_gene': 'PSMG3-AS1', 'score': 11.21}, {'connected_gene': 'MICALL2', 'score': 0.44}, {'connected_gene': 'ENSG00000233082', 'score': 0.09}]
chr7 GH07I001580 1579845 1579994 0.8 [{'connected_gene': 'MAFK', 'score': 12.27}, {'connected_gene': 'EIF3B', 'score': 9.71}, {'connected_gene': 'PSMG3', 'score': 0.44}, {'connected_gene': 'PSMG3-AS1', 'score': 0.44}, {'connected_gene': 'LOC105375122', 'score': 0.39}]
chr7 GH07I001579 1579400 1579801 0.96 [{'connected_gene': 'MAFK', 'score': 12.27}, {'connected_gene': 'PSMG3', 'score': 0.44}, {'connected_gene': 'PSMG3-AS1', 'score': 0.44}, {'connected_gene': 'LOC105375122', 'score': 0.39}]
chr7 GH07I001575 1575717 1577709 0.92 [{'connected_gene': 'MAFK', 'score': 13.19}, {'connected_gene': 'BRAT1', 'score': 12.53}, {'connected_gene': 'DNAAF5', 'score': 11.6}, {'connected_gene': 'ENSG00000231927', 'score': 11.0}, {'connected_gene': 'INTS1', 'score': 10.98}, {'connected_gene': 'EIF3B', 'score': 10.93}, {'connected_gene': 'SUN1', 'score': 9.93}, {'connected_gene': 'PSMG3-AS1', 'score': 8.97}, {'connected_gene': 'ELFN1', 'score': 4.35}, {'connected_gene': 'PSMG3', 'score': 0.44}, {'connected_gene': 'GC07P001567', 'score': 0.44}, {'connected_gene': 'LOC105375122', 'score': 0.37}]
chr7 GH07I002018 2018002 2021159 1.42 [{'connected_gene': 'MRM2', 'score': 10.43}, {'connected_gene': 'PSMG3', 'score': 6.14}, {'connected_gene': 'NUDT1', 'score': 5.14}, {'connected_gene': 'SNX8', 'score': 3.42}, {'connected_gene': 'MAFK', 'score': 3.34}, {'connected_gene': 'GC07M001999', 'score': 0.37}, {'connected_gene': 'GC07M002088', 'score': 0.19}, {'connected_gene': 'MAD1L1', 'score': 0.08}]
chr7 GH07I001519 1519719 1522164 1.68 [{'connected_gene': 'INTS1', 'score': 19.16}, {'connected_gene': 'TMEM184A', 'score': 3.1}, {'connected_gene': 'MAFK', 'score': 2.31}, {'connected_gene': 'PSMG3', 'score': 2.25}, {'connected_gene': 'C7orf50', 'score': 1.38}, {'connected_gene': 'ENSG00000231927', 'score': 0.39}]
chr7 GH07I001562 1562085 1563309 0.52 [{'connected_gene': 'TMEM184A', 'score': 550.77}, {'connected_gene': 'PSMG3-AS1', 'score': 10.23}, {'connected_gene': 'PSMG3', 'score': 8.39}, {'connected_gene': 'NUDT1', 'score': 5.32}, {'connected_gene': 'GC07P001567', 'score': 0.77}]
chr7 GH07I001449 1449796 1451396 0.31 [{'connected_gene': 'PSMG3-AS1', 'score': 11.21}, {'connected_gene': 'PSMG3', 'score': 11.21}, {'connected_gene': 'MICALL2', 'score': 0.44}, {'connected_gene': 'ENSG00000233082', 'score': 0.09}]
chr7 GH07I001564 1564015 1565545 0.77 [{'connected_gene': 'PSMG3-AS1', 'score': 10.8}, {'connected_gene': 'PSMG3', 'score': 8.26}, {'connected_gene': 'TMEM184A', 'score': 0.77}, {'connected_gene': 'GC07P001567', 'score': 0.77}]
chr7 GH07I001565 1565972 1572616 2.28 [{'connected_gene': 'PSMG3-AS1', 'score': 561.22}, {'connected_gene': 'PSMG3', 'score': 556.9}, {'connected_gene': 'GC07P001567', 'score': 550.77}]
chr7 GH07I001591 1591401 1592400 0.31 [{'connected_gene': 'LOC105375122', 'score': 550.77}, {'connected_gene': 'ENSG00000205971', 'score': 11.25}, {'connected_gene': 'ENSG00000234977', 'score': 11.25}, {'connected_gene': 'PSMG3-AS1', 'score': 5.89}, {'connected_gene': 'PSMG3', 'score': 0.34}]
chr7 GH07I000608 608002 611799 1.6 [{'connected_gene': 'LOC101926963', 'score': 8.14}, {'connected_gene': 'PSMG3', 'score': 5.2}, {'connected_gene': 'COX19', 'score': 2.27}, {'connected_gene': 'LOC105375119', 'score': 0.77}, {'connected_gene': 'PRKAR1B', 'score': 0.13}]
chr7 GH07I000600 600529 606171 1.42 [{'connected_gene': 'LOC101926963', 'score': 563.27}, {'connected_gene': 'PSMG3', 'score': 4.93}, {'connected_gene': 'LOC105375119', 'score': 0.39}, {'connected_gene': 'PRKAR1B', 'score': 0.13}]
chr7 GH07I001638 1638465 1638574 0.31 [{'connected_gene': 'ENSG00000234977', 'score': 12.03}, {'connected_gene': 'ENSG00000205971', 'score': 12.02}, {'connected_gene': 'PSMG3', 'score': 11.18}, {'connected_gene': 'PSMG3-AS1', 'score': 11.18}, {'connected_gene': 'PIR45811', 'score': 0.44}, {'connected_gene': 'LOC105375303', 'score': 0.34}]