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
ENST00000327335 [[55862983, 55863922]] [[55862983, 55863922]]
NM_001005499 [[55862983, 55863922]] [[55862983, 55863922]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I055626 55625707 55627236 0.31 [{'connected_gene': 'STAT2', 'score': 5.55}, {'connected_gene': 'OR10P1', 'score': 0.39}, {'connected_gene': 'OR6U2P', 'score': 0.37}, {'connected_gene': 'OR6C70', 'score': 0.29}]
chr12 GH12I055649 55649452 55652626 0.66 [{'connected_gene': 'PHC1P1', 'score': 17.6}, {'connected_gene': 'SMARCC2', 'score': 15.56}, {'connected_gene': 'IKZF4', 'score': 14.74}, {'connected_gene': 'ANKRD52', 'score': 12.17}, {'connected_gene': 'ENSG00000257740', 'score': 12.11}, {'connected_gene': 'BLOC1S1', 'score': 11.03}, {'connected_gene': 'ITGA7', 'score': 11.02}, {'connected_gene': 'MMP19', 'score': 9.28}, {'connected_gene': 'ORMDL2', 'score': 8.42}, {'connected_gene': 'OR10P1', 'score': 6.22}, {'connected_gene': 'RNF41', 'score': 4.73}, {'connected_gene': 'ZC3H10', 'score': 2.33}, {'connected_gene': 'OR10AE3P', 'score': 0.77}, {'connected_gene': 'GC12P055653', 'score': 0.77}, {'connected_gene': 'OR6C70', 'score': 0.44}, {'connected_gene': 'ENSG00000258921', 'score': 0.44}]
chr12 GH12I055641 55641801 55643400 1.15 [{'connected_gene': 'MMP19', 'score': 11.27}, {'connected_gene': 'ZC3H10', 'score': 3.6}, {'connected_gene': 'BLOC1S1', 'score': 1.38}, {'connected_gene': 'OR10AE3P', 'score': 0.77}, {'connected_gene': 'OR10P1', 'score': 0.44}, {'connected_gene': 'ENSG00000258921', 'score': 0.37}, {'connected_gene': 'OR6C70', 'score': 0.37}]
chr12 GH12I055629 55629270 55629294 0.42 [{'connected_gene': 'MMP19', 'score': 4.72}, {'connected_gene': 'OR6C4', 'score': 4.28}, {'connected_gene': 'OR10P1', 'score': 4.2}, {'connected_gene': 'OR6C65', 'score': 3.71}, {'connected_gene': 'ZC3H10', 'score': 2.65}, {'connected_gene': 'OR6C74', 'score': 2.49}, {'connected_gene': 'OR9K2', 'score': 2.36}, {'connected_gene': 'OR6C3', 'score': 2.25}, {'connected_gene': 'OR6C2', 'score': 1.87}, {'connected_gene': 'OR6C6', 'score': 1.85}, {'connected_gene': 'OR6C75', 'score': 1.82}, {'connected_gene': 'OR6C1', 'score': 1.28}, {'connected_gene': 'OR6C76', 'score': 1.19}, {'connected_gene': 'OR6U2P', 'score': 0.34}, {'connected_gene': 'OR6C70', 'score': 0.29}]
chr12 GH12I055645 55645601 55647543 1.41 [{'connected_gene': 'OR10AE3P', 'score': 550.77}, {'connected_gene': 'SMARCC2', 'score': 22.85}, {'connected_gene': 'ANKRD52', 'score': 21.41}, {'connected_gene': 'PHC1P1', 'score': 18.02}, {'connected_gene': 'DNAJC14', 'score': 17.91}, {'connected_gene': 'IKZF4', 'score': 15.73}, {'connected_gene': 'PAN2', 'score': 15.62}, {'connected_gene': 'TMEM198B', 'score': 11.78}, {'connected_gene': 'IL23A', 'score': 11.65}, {'connected_gene': 'ENSG00000257740', 'score': 11.58}, {'connected_gene': 'ITGA7', 'score': 11.02}, {'connected_gene': 'BLOC1S1', 'score': 11.02}, {'connected_gene': 'BAZ2A', 'score': 10.54}, {'connected_gene': 'PYM1', 'score': 10.31}, {'connected_gene': 'OR10P1', 'score': 6.08}, {'connected_gene': 'OR6C70', 'score': 0.39}, {'connected_gene': 'ENSG00000258921', 'score': 0.39}]
chr12 GH12I055619 55619737 55619906 0.91 [{'connected_gene': 'OR6U2P', 'score': 0.39}, {'connected_gene': 'OR10P1', 'score': 0.37}, {'connected_gene': 'OR6C70', 'score': 0.26}]
chr12 GH12I055498 55498378 55500838 0.82 [{'connected_gene': 'OR6C70', 'score': 10.44}, {'connected_gene': 'MIP', 'score': 4.56}, {'connected_gene': 'ENSG00000257303', 'score': 3.91}, {'connected_gene': 'OR6C68', 'score': 0.44}, {'connected_gene': 'GC12M055509', 'score': 0.39}, {'connected_gene': 'ENSG00000258763', 'score': 0.17}]
chr12 GH12I055635 55635334 55639023 0.2 [{'connected_gene': 'OR10P1', 'score': 557.32}, {'connected_gene': 'OR10AE3P', 'score': 0.44}, {'connected_gene': 'ENSG00000258921', 'score': 0.34}, {'connected_gene': 'OR6C70', 'score': 0.34}]
chr12 GH12I055624 55624257 55624266 0.73 [{'connected_gene': 'OR10P1', 'score': 0.39}, {'connected_gene': 'OR6U2P', 'score': 0.37}, {'connected_gene': 'OR6C70', 'score': 0.28}]
chr12 GH12I055628 55628031 55628756 0.2 [{'connected_gene': 'OR10P1', 'score': 0.44}, {'connected_gene': 'OR6U2P', 'score': 0.34}, {'connected_gene': 'OR6C70', 'score': 0.29}]
chr12 GH12I055630 55630349 55631009 0.31 [{'connected_gene': 'OR10P1', 'score': 0.44}, {'connected_gene': 'OR6U2P', 'score': 0.34}, {'connected_gene': 'OR6C70', 'score': 0.31}]
chr12 GH12I055625 55624681 55625343 0.2 [{'connected_gene': 'OR10P1', 'score': 0.39}, {'connected_gene': 'OR6U2P', 'score': 0.37}, {'connected_gene': 'OR6C70', 'score': 0.29}]
chr12 GH12I055631 55631039 55633671 0.43 [{'connected_gene': 'OR10P1', 'score': 7.14}, {'connected_gene': 'OR6U2P', 'score': 0.34}, {'connected_gene': 'OR6C70', 'score': 0.31}]
chr12 GH12I055656 55656403 55660517 1.15 [{'connected_gene': 'ENSG00000258921', 'score': 550.77}, {'connected_gene': 'OR6C70', 'score': 550.77}, {'connected_gene': 'RNF41', 'score': 4.34}, {'connected_gene': 'PSMB3P1', 'score': 0.77}, {'connected_gene': 'GC12P055653', 'score': 0.44}]