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
ENST00000493961 [[72642036, 72642242], [72644908, 72644989], [72645554, 72645656]] None
ENST00000299299 [[72643266, 72643805], [72644908, 72644989], [72645554, 72645686], [72648287, 72648541]] [[72643706, 72643805], [72644908, 72644989], [72645554, 72645686], [72648287, 72648290]]
ENST00000493228 [[72643688, 72643805], [72644908, 72644989], [72645554, 72645686], [72647609, 72648011]] None
NM_001323004 [[72642036, 72642242], [72644908, 72644989], [72645554, 72645686], [72648287, 72648543]] [[72642143, 72642242], [72644908, 72644989], [72645554, 72645686], [72648287, 72648290]]
NM_001289797 [[72643264, 72643805], [72644908, 72644989], [72645554, 72645686], [72647609, 72648011]] [[72643706, 72643805], [72644908, 72644977]]
NM_000281 [[72643264, 72643805], [72644908, 72644989], [72645554, 72645686], [72648287, 72648543]] [[72643706, 72643805], [72644908, 72644989], [72645554, 72645686], [72648287, 72648290]]
Promoter
Chrom Start End Description
chr10 72645686 72645703 CAGE_peak_3_at_PCBD1_5end
chr10 72645773 72645784 CAGE_peak_11_at_PCBD1_5end
chr10 72647629 72647647 CAGE_peak_4_at_PCBD1_5end
chr10 72648303 72648373 CAGE_peak_1_at_PCBD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I070549 70549965 70550114 0.74 [{'connected_gene': 'SGPL1', 'score': 11.45}, {'connected_gene': 'PCBD1', 'score': 11.27}, {'connected_gene': 'PRF1', 'score': 0.23}, {'connected_gene': 'YY1P1', 'score': 0.21}, {'connected_gene': 'PALD1', 'score': 0.16}]
chr10 GH10I070551 70551043 70553978 0.86 [{'connected_gene': 'SGPL1', 'score': 11.46}, {'connected_gene': 'PCBD1', 'score': 11.27}, {'connected_gene': 'PRF1', 'score': 0.23}, {'connected_gene': 'YY1P1', 'score': 0.2}, {'connected_gene': 'PALD1', 'score': 0.16}]
chr10 GH10I070890 70890571 70891534 0.81 [{'connected_gene': 'SGPL1', 'score': 8.89}, {'connected_gene': 'PCBD1', 'score': 8.7}, {'connected_gene': 'ENSG00000271409', 'score': 0.28}]
chr10 GH10I070854 70854004 70854153 0.59 [{'connected_gene': 'SGPL1', 'score': 11.31}, {'connected_gene': 'PCBD1', 'score': 11.08}, {'connected_gene': 'GC10P070863', 'score': 0.44}]
chr10 GH10I070849 70849289 70850680 0.57 [{'connected_gene': 'SGPL1', 'score': 31.94}, {'connected_gene': 'PCBD1', 'score': 11.33}, {'connected_gene': 'GC10P070863', 'score': 0.39}]
chr10 GH10I070831 70831316 70835057 1.28 [{'connected_gene': 'SGPL1', 'score': 30.93}, {'connected_gene': 'PCBD1', 'score': 21.33}, {'connected_gene': 'GC10P070863', 'score': 0.29}]
chr10 GH10I070828 70828681 70831295 0.64 [{'connected_gene': 'SGPL1', 'score': 28.47}, {'connected_gene': 'PCBD1', 'score': 16.05}, {'connected_gene': 'GC10P070863', 'score': 0.29}]
chr10 GH10I070835 70835842 70836754 0.64 [{'connected_gene': 'SGPL1', 'score': 11.63}, {'connected_gene': 'PCBD1', 'score': 10.59}, {'connected_gene': 'GC10P070863', 'score': 0.31}]
chr10 GH10I070851 70851331 70852295 0.79 [{'connected_gene': 'SGPL1', 'score': 39.4}, {'connected_gene': 'PCBD1', 'score': 17.06}, {'connected_gene': 'GC10P070863', 'score': 0.39}]
chr10 GH10I070858 70858284 70859513 0.43 [{'connected_gene': 'SGPL1', 'score': 32.11}, {'connected_gene': 'PCBD1', 'score': 16.41}, {'connected_gene': 'GC10P070863', 'score': 0.77}]
chr10 GH10I070843 70843469 70846414 0.67 [{'connected_gene': 'SGPL1', 'score': 39.54}, {'connected_gene': 'TYSND1', 'score': 9.71}, {'connected_gene': 'PCBD1', 'score': 5.8}, {'connected_gene': 'GC10P070863', 'score': 0.37}]
chr10 GH10I070588 70588068 70591653 1.12 [{'connected_gene': 'SAR1A', 'score': 11.35}, {'connected_gene': 'PCBD1', 'score': 10.67}, {'connected_gene': 'ADAMTS14', 'score': 9.69}, {'connected_gene': 'PRF1', 'score': 0.39}, {'connected_gene': 'YY1P1', 'score': 0.15}]
chr10 GH10I071289 71289654 71290361 0.38 [{'connected_gene': 'SLC29A3', 'score': 11.08}, {'connected_gene': 'PCBD1', 'score': 10.6}, {'connected_gene': 'GC10P071300', 'score': 0.39}, {'connected_gene': 'PIR34735', 'score': 0.37}, {'connected_gene': 'UNC5B', 'score': 0.18}]
chr10 GH10I071285 71285204 71285353 0.83 [{'connected_gene': 'SLC29A3', 'score': 11.06}, {'connected_gene': 'PCBD1', 'score': 10.6}, {'connected_gene': 'PIR34735', 'score': 0.39}, {'connected_gene': 'GC10P071300', 'score': 0.39}, {'connected_gene': 'UNC5B', 'score': 0.19}]
chr10 GH10I070805 70804525 70804674 0.38 [{'connected_gene': 'PCBD1', 'score': 11.08}, {'connected_gene': 'SGPL1', 'score': 0.39}, {'connected_gene': 'RPS26P40', 'score': 0.39}]
chr10 GH10I070806 70806005 70806154 0.2 [{'connected_gene': 'PCBD1', 'score': 11.2}, {'connected_gene': 'SGPL1', 'score': 0.44}, {'connected_gene': 'RPS26P40', 'score': 0.39}]
chr10 GH10I070887 70887175 70889527 1.5 [{'connected_gene': 'PCBD1', 'score': 561.15}, {'connected_gene': 'SGPL1', 'score': 16.85}, {'connected_gene': 'PIR33878', 'score': 0.39}]
chr10 GH10I071220 71220368 71221707 0.64 [{'connected_gene': 'PCBD1', 'score': 9.7}, {'connected_gene': 'UNC5B-AS1', 'score': 7.27}, {'connected_gene': 'UNC5B', 'score': 0.44}, {'connected_gene': 'PIR59347', 'score': 0.37}]
chr10 GH10I071222 71222471 71223552 0.94 [{'connected_gene': 'PCBD1', 'score': 9.7}, {'connected_gene': 'UNC5B-AS1', 'score': 0.77}, {'connected_gene': 'UNC5B', 'score': 0.39}, {'connected_gene': 'PIR59347', 'score': 0.37}]
chr10 GH10I071223 71223697 71226042 0.81 [{'connected_gene': 'PCBD1', 'score': 10.15}, {'connected_gene': 'UNC5B-AS1', 'score': 0.44}, {'connected_gene': 'UNC5B', 'score': 0.39}, {'connected_gene': 'PIR59347', 'score': 0.39}]
chr10 GH10I071303 71303404 71303533 0.64 [{'connected_gene': 'PCBD1', 'score': 9.31}, {'connected_gene': 'GC10P071300', 'score': 0.77}, {'connected_gene': 'SLC29A3', 'score': 0.37}]
chr10 GH10I070803 70803745 70803894 0.2 [{'connected_gene': 'PCBD1', 'score': 16.18}, {'connected_gene': 'RPS26P40', 'score': 0.44}, {'connected_gene': 'SGPL1', 'score': 0.39}]
chr10 GH10I070804 70803977 70804239 0.2 [{'connected_gene': 'PCBD1', 'score': 11.08}, {'connected_gene': 'RPS26P40', 'score': 0.44}, {'connected_gene': 'SGPL1', 'score': 0.39}]
chr10 GH10I070970 70970944 70971153 0.31 [{'connected_gene': 'PCBD1', 'score': 10.38}, {'connected_gene': 'UNC5B', 'score': 10.37}, {'connected_gene': 'LOC105378350', 'score': 0.44}, {'connected_gene': 'LOC105378349', 'score': 0.29}]
chr10 GH10I070595 70595125 70598672 1.08 [{'connected_gene': 'NODAL', 'score': 9.54}, {'connected_gene': 'ADAMTS14', 'score': 8.96}, {'connected_gene': 'PCBD1', 'score': 5.12}, {'connected_gene': 'PRF1', 'score': 0.44}, {'connected_gene': 'YY1P1', 'score': 0.14}]
chr10 GH10I070477 70477530 70480926 2.48 [{'connected_gene': 'PALD1', 'score': 578.31}, {'connected_gene': 'NODAL', 'score': 10.9}, {'connected_gene': 'PCBD1', 'score': 9.86}, {'connected_gene': 'YY1P1', 'score': 0.44}]
chr10 GH10I070481 70481661 70483823 1 [{'connected_gene': 'PALD1', 'score': 14.7}, {'connected_gene': 'NODAL', 'score': 10.9}, {'connected_gene': 'PCBD1', 'score': 9.86}, {'connected_gene': 'YY1P1', 'score': 0.77}]
chr10 GH10I070759 70759001 70759600 1.01 [{'connected_gene': 'TBATA', 'score': 12.01}, {'connected_gene': 'PCBD1', 'score': 10.86}, {'connected_gene': 'TYSND1', 'score': 10.58}, {'connected_gene': 'ADAMTS14', 'score': 0.17}]
chr10 GH10I071265 71265234 71272946 1.7 [{'connected_gene': 'UNC5B', 'score': 13.37}, {'connected_gene': 'UNC5B-AS1', 'score': 11.52}, {'connected_gene': 'SLC29A3', 'score': 10.8}, {'connected_gene': 'CDH23-AS1', 'score': 10.18}, {'connected_gene': 'CDH23', 'score': 10.18}, {'connected_gene': 'PCBD1', 'score': 9.89}, {'connected_gene': 'PIR34735', 'score': 0.77}, {'connected_gene': 'PIR59347', 'score': 0.29}]
chr10 GH10I071251 71251563 71257183 1.15 [{'connected_gene': 'UNC5B', 'score': 24.67}, {'connected_gene': 'UNC5B-AS1', 'score': 11.61}, {'connected_gene': 'PCBD1', 'score': 10.25}, {'connected_gene': 'CDH23', 'score': 10.12}, {'connected_gene': 'PIR59347', 'score': 0.37}, {'connected_gene': 'PIR34735', 'score': 0.37}]
chr10 GH10I071231 71231860 71237179 1.57 [{'connected_gene': 'UNC5B', 'score': 37.82}, {'connected_gene': 'UNC5B-AS1', 'score': 12.44}, {'connected_gene': 'PCBD1', 'score': 10.2}, {'connected_gene': 'SLC29A3', 'score': 9.75}, {'connected_gene': 'C10orf105', 'score': 2.25}, {'connected_gene': 'PIR59347', 'score': 0.77}]
chr10 GH10I071240 71240190 71242976 1.15 [{'connected_gene': 'UNC5B', 'score': 29.48}, {'connected_gene': 'UNC5B-AS1', 'score': 22.29}, {'connected_gene': 'PCBD1', 'score': 10.48}, {'connected_gene': 'PIR59347', 'score': 0.77}, {'connected_gene': 'PIR34735', 'score': 0.29}]
chr10 GH10I071243 71243320 71249902 1.24 [{'connected_gene': 'UNC5B', 'score': 26.31}, {'connected_gene': 'UNC5B-AS1', 'score': 22.29}, {'connected_gene': 'PCBD1', 'score': 10.48}, {'connected_gene': 'PIR59347', 'score': 0.44}, {'connected_gene': 'PIR34735', 'score': 0.31}]
chr10 GH10I071283 71283338 71285107 0.6 [{'connected_gene': 'UNC5B', 'score': 16.48}, {'connected_gene': 'SLC29A3', 'score': 11.05}, {'connected_gene': 'PCBD1', 'score': 10.6}, {'connected_gene': 'PIR34735', 'score': 0.39}, {'connected_gene': 'GC10P071300', 'score': 0.37}]
chr10 GH10I071307 71307255 71308792 0.6 [{'connected_gene': 'UNC5B', 'score': 10.17}, {'connected_gene': 'PCBD1', 'score': 9.31}, {'connected_gene': 'SLC29A3', 'score': 7.63}, {'connected_gene': 'GC10P071300', 'score': 0.44}]
chr10 GH10I071036 71036324 71036473 0.38 [{'connected_gene': 'UNC5B', 'score': 10.5}, {'connected_gene': 'PCBD1', 'score': 9.94}, {'connected_gene': 'LOC105378351', 'score': 0.29}, {'connected_gene': 'PIR52978', 'score': 0.13}]
chr10 GH10I071250 71250093 71251244 0.57 [{'connected_gene': 'UNC5B', 'score': 25.85}, {'connected_gene': 'PCBD1', 'score': 10.25}, {'connected_gene': 'PIR59347', 'score': 0.39}, {'connected_gene': 'PIR34735', 'score': 0.34}]
chr10 GH10I070575 70575528 70580763 1.43 [{'connected_gene': 'ADAMTS14', 'score': 27.5}, {'connected_gene': 'PRF1', 'score': 12.94}, {'connected_gene': 'NPFFR1', 'score': 12.52}, {'connected_gene': 'PCBD1', 'score': 10.72}, {'connected_gene': 'YY1P1', 'score': 0.16}]
chr10 GH10I070655 70655279 70658260 1.51 [{'connected_gene': 'ADAMTS14', 'score': 28.7}, {'connected_gene': 'PRF1', 'score': 11.88}, {'connected_gene': 'PCBD1', 'score': 10.01}, {'connected_gene': 'NODAL', 'score': 9.54}, {'connected_gene': 'GC10M070611', 'score': 0.26}]
chr10 GH10I070693 70693007 70696077 0.94 [{'connected_gene': 'ADAMTS14', 'score': 38.47}, {'connected_gene': 'PRF1', 'score': 11.98}, {'connected_gene': 'PCBD1', 'score': 10.2}, {'connected_gene': 'TYSND1', 'score': 4.66}, {'connected_gene': 'TBATA', 'score': 0.16}]
chr10 GH10I070573 70573194 70574625 0.72 [{'connected_gene': 'ADAMTS14', 'score': 20.54}, {'connected_gene': 'PRF1', 'score': 12.91}, {'connected_gene': 'PCBD1', 'score': 10.72}, {'connected_gene': 'YY1P1', 'score': 0.17}]
chr10 GH10I070754 70754150 70756088 0.31 [{'connected_gene': 'ADAMTS14', 'score': 19.08}, {'connected_gene': 'PCBD1', 'score': 9.79}, {'connected_gene': 'TBATA', 'score': 5.24}]
chr10 GH10I070615 70615741 70619554 0.82 [{'connected_gene': 'ADAMTS14', 'score': 30.91}, {'connected_gene': 'PCBD1', 'score': 10.14}, {'connected_gene': 'TYSND1', 'score': 4.99}, {'connected_gene': 'GC10M070611', 'score': 0.77}]
chr10 GH10I070622 70622508 70627054 0.66 [{'connected_gene': 'ADAMTS14', 'score': 30.8}, {'connected_gene': 'PCBD1', 'score': 15.11}, {'connected_gene': 'GC10M070611', 'score': 0.39}]
chr10 GH10I070756 70756452 70757355 0.72 [{'connected_gene': 'ADAMTS14', 'score': 17.28}, {'connected_gene': 'TBATA', 'score': 12.01}, {'connected_gene': 'PCBD1', 'score': 10.85}]
chr10 GH10I071299 71299201 71299800 0.31 [{'connected_gene': 'GC10P071300', 'score': 550.77}, {'connected_gene': 'CDH23', 'score': 10.98}, {'connected_gene': 'UNC5B', 'score': 10.71}, {'connected_gene': 'PCBD1', 'score': 9.89}, {'connected_gene': 'SLC29A3', 'score': 5.13}, {'connected_gene': 'PIR34735', 'score': 0.31}]
chr10 GH10I070880 70880124 70880313 0.82 [{'connected_gene': 'PIR33878', 'score': 0.77}, {'connected_gene': 'PCBD1', 'score': 0.44}, {'connected_gene': 'SGPL1', 'score': 0.21}]