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
ENST00000376819 [[11249397, 11250012], [11252326, 11252427], [11253636, 11253831], [11254517, 11254716], [11254910, 11256038]] [[11249636, 11250012], [11252326, 11252427], [11253636, 11253831], [11254517, 11254716], [11254910, 11255080]]
ENST00000476934 [[11253683, 11253831], [11254582, 11254716], [11254910, 11255235]] None
NM_021146 [[11249345, 11250012], [11252326, 11252427], [11253636, 11253831], [11254517, 11254716], [11254910, 11256038]] [[11249636, 11250012], [11252326, 11252427], [11253636, 11253831], [11254517, 11254716], [11254910, 11255080]]
Promoter
Chrom Start End Description
chr1 11249404 11249419 CAGE_peak_1_at_ANGPTL7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I010790 10790625 10797001 3.32 [{'connected_gene': 'CASZ1', 'score': 554.83}, {'connected_gene': 'TARDBP', 'score': 35.65}, {'connected_gene': 'ANGPTL7', 'score': 23.91}, {'connected_gene': 'ENSG00000226849', 'score': 22.91}, {'connected_gene': 'CLSTN1', 'score': 14.16}, {'connected_gene': 'UBIAD1', 'score': 11.63}, {'connected_gene': 'FBXO44', 'score': 10.28}, {'connected_gene': 'EXOSC10', 'score': 10.19}, {'connected_gene': 'GC01P010673', 'score': 0.13}]
chr1 GH01I011011 11011373 11014805 2.09 [{'connected_gene': 'TARDBP', 'score': 570.93}, {'connected_gene': 'ENSG00000277726', 'score': 550.77}, {'connected_gene': 'ENSG00000226849', 'score': 22.12}, {'connected_gene': 'CLCN6', 'score': 20.18}, {'connected_gene': 'EXOSC10', 'score': 10.58}, {'connected_gene': 'FBXO44', 'score': 10.28}, {'connected_gene': 'DFFA', 'score': 10.15}, {'connected_gene': 'MASP2', 'score': 9.96}, {'connected_gene': 'ANGPTL7', 'score': 5.96}, {'connected_gene': 'ENSG00000271895', 'score': 5.04}]
chr1 GH01I011175 11175715 11179292 1.35 [{'connected_gene': 'CLCN6', 'score': 36.78}, {'connected_gene': 'ENSG00000226849', 'score': 21.64}, {'connected_gene': 'ANGPTL7', 'score': 14.03}, {'connected_gene': 'ENSG00000271895', 'score': 12.31}, {'connected_gene': 'MTOR', 'score': 11.76}, {'connected_gene': 'TARDBP', 'score': 10.41}, {'connected_gene': 'FBXO44', 'score': 10.3}, {'connected_gene': 'EXOSC10', 'score': 10.19}, {'connected_gene': 'RNU6-537P', 'score': 0.31}]
chr1 GH01I011045 11045504 11046959 0.7 [{'connected_gene': 'MASP2', 'score': 550.77}, {'connected_gene': 'ANGPTL7', 'score': 9.08}, {'connected_gene': 'ENSG00000226849', 'score': 9.05}, {'connected_gene': 'GC01P011041', 'score': 0.44}]
chr1 GH01I011150 11150971 11153283 0.52 [{'connected_gene': 'RNU6-537P', 'score': 550.77}, {'connected_gene': 'ANGPTL7', 'score': 14.02}, {'connected_gene': 'C1orf127', 'score': 9.85}, {'connected_gene': 'ENSG00000226849', 'score': 9.15}, {'connected_gene': 'MTOR-AS1', 'score': 0.44}, {'connected_gene': 'MTOR', 'score': 0.14}]
chr1 GH01I010753 10753295 10753740 0.76 [{'connected_gene': 'ANGPTL7', 'score': 25.13}, {'connected_gene': 'CASZ1', 'score': 1.98}, {'connected_gene': 'GC01P010673', 'score': 0.18}]
chr1 GH01I010789 10789750 10790084 0.81 [{'connected_gene': 'ANGPTL7', 'score': 16.74}, {'connected_gene': 'CASZ1', 'score': 5.05}, {'connected_gene': 'GC01P010673', 'score': 0.13}]
chr1 GH01I010706 10706333 10706780 0.58 [{'connected_gene': 'ANGPTL7', 'score': 5.48}, {'connected_gene': 'CASZ1', 'score': 3.0}, {'connected_gene': 'GC01P010673', 'score': 0.29}]
chr1 GH01I011156 11156758 11159530 0.69 [{'connected_gene': 'ANGPTL7', 'score': 10.99}, {'connected_gene': 'MTOR', 'score': 10.95}, {'connected_gene': 'C1orf127', 'score': 9.85}, {'connected_gene': 'ENSG00000226849', 'score': 9.14}, {'connected_gene': 'EXOSC10', 'score': 5.23}, {'connected_gene': 'RNU6-537P', 'score': 0.44}]
chr1 GH01I011189 11189306 11189365 0.81 [{'connected_gene': 'ANGPTL7', 'score': 550.77}, {'connected_gene': 'GC01P011226', 'score': 0.28}, {'connected_gene': 'MTOR', 'score': 0.19}, {'connected_gene': 'GC01M011183', 'score': 0.15}]
chr1 GH01I011180 11180369 11180652 0.63 [{'connected_gene': 'ANGPTL7', 'score': 0.44}, {'connected_gene': 'RNU6-537P', 'score': 0.31}, {'connected_gene': 'MTOR', 'score': 0.18}]
chr1 GH01I011174 11174384 11174533 0.51 [{'connected_gene': 'ANGPTL7', 'score': 0.39}, {'connected_gene': 'RNU6-537P', 'score': 0.34}, {'connected_gene': 'MTOR', 'score': 0.17}]
chr1 GH01I011285 11285011 11287604 0.54 [{'connected_gene': 'PIR33705', 'score': 550.77}, {'connected_gene': 'ANGPTL7', 'score': 9.96}, {'connected_gene': 'EXOSC10', 'score': 4.85}, {'connected_gene': 'MASP2', 'score': 4.67}, {'connected_gene': 'GC01M011183', 'score': 0.77}, {'connected_gene': 'UBE2V2P3', 'score': 0.44}, {'connected_gene': 'UBIAD1', 'score': 0.39}]