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
ENST00000450629 [[106028630, 106029027], [106034442, 106034707], [106034983, 106035092], [106037651, 106037874], [106057335, 106057442], [106058885, 106059175]] [[106034673, 106034707], [106034983, 106035092], [106037651, 106037874], [106057335, 106057442], [106058885, 106059042]]
ENST00000338595 [[106028938, 106029027], [106034442, 106034707], [106034983, 106035092], [106037651, 106037874], [106039127, 106039229], [106057335, 106057442], [106058885, 106059169]] [[106034673, 106034707], [106034983, 106035092], [106037651, 106037874], [106039127, 106039229], [106057335, 106057442], [106058885, 106059042]]
ENST00000401888 [[106034648, 106034707], [106034983, 106035092], [106037651, 106037874], [106039127, 106039229], [106045692, 106045748], [106048392, 106048815]] [[106034673, 106034707], [106034983, 106035092], [106037651, 106037874], [106039127, 106039229], [106045692, 106045725]]
ENST00000473401 [[106034655, 106034707], [106037651, 106037874], [106057335, 106057442], [106058885, 106059172]] None
ENST00000477078 [[106034677, 106034707], [106037651, 106037874], [106039127, 106039229], [106045692, 106045748], [106048140, 106048246], [106051012, 106051101], [106051245, 106051402]] None
ENST00000369707 [[106034919, 106035092], [106037651, 106037874], [106039127, 106039229], [106057335, 106057442], [106058885, 106064703]] [[106035033, 106035092], [106037651, 106037874], [106039127, 106039229], [106057335, 106057442], [106058885, 106059042]]
ENST00000429569 [[106034923, 106035092], [106037651, 106037874], [106058885, 106059616]] [[106035033, 106035092], [106037651, 106037874], [106058885, 106058969]]
ENST00000467629 [[106045695, 106045748], [106054742, 106054867], [106057335, 106057442], [106058885, 106059176]] None
ENST00000498052 [[106055032, 106057442], [106058885, 106059169]] None
NM_001191013 [[106028630, 106029027], [106034442, 106034707], [106034983, 106035092], [106037651, 106037874], [106057335, 106057442], [106058885, 106059176]] [[106034673, 106034707], [106034983, 106035092], [106037651, 106037874], [106057335, 106057442], [106058885, 106059042]]
NM_183239 [[106028630, 106029027], [106034442, 106034707], [106034983, 106035092], [106037651, 106037874], [106039127, 106039229], [106057335, 106057442], [106058885, 106059176]] [[106034673, 106034707], [106034983, 106035092], [106037651, 106037874], [106039127, 106039229], [106057335, 106057442], [106058885, 106059042]]
NM_001191015 [[106034886, 106035092], [106037651, 106037874], [106057335, 106057442], [106058885, 106059176]] [[106035033, 106035092], [106037651, 106037874], [106057335, 106057442], [106058885, 106059042]]
NM_001191014 [[106034886, 106035092], [106037651, 106037874], [106039127, 106039229], [106057335, 106057442], [106058885, 106059176]] [[106035033, 106035092], [106037651, 106037874], [106039127, 106039229], [106057335, 106057442], [106058885, 106059042]]
Promoter
Chrom Start End Description
chr10 106028586 106028601 CAGE_peak_6_at_GSTO2_5end
chr10 106028605 106028637 CAGE_peak_4_at_GSTO2_5end
chr10 106028923 106028956 CAGE_peak_3_at_GSTO2_5end
chr10 106028960 106028972 CAGE_peak_5_at_GSTO2_5end
chr10 106034637 106034676 CAGE_peak_2_at_GSTO2_5end
chr10 106034884 106034936 CAGE_peak_1_at_GSTO2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I103905 103905129 103914106 1.77 [{'connected_gene': 'SLK', 'score': 17.12}, {'connected_gene': 'STN1', 'score': 7.17}, {'connected_gene': 'ENSG00000260461', 'score': 6.19}, {'connected_gene': 'GSTO2', 'score': 5.62}, {'connected_gene': 'SH3PXD2A', 'score': 4.74}, {'connected_gene': 'GSTO1', 'score': 3.03}, {'connected_gene': 'GC10M103885', 'score': 0.37}]
chr10 GH10I103756 103756118 103760513 1.48 [{'connected_gene': 'SH3PXD2A', 'score': 11.67}, {'connected_gene': 'GSTO1', 'score': 5.76}, {'connected_gene': 'GSTO2', 'score': 4.47}, {'connected_gene': 'SH3PXD2A-AS1', 'score': 0.39}]
chr10 GH10I103779 103779233 103783817 1.12 [{'connected_gene': 'SH3PXD2A', 'score': 11.87}, {'connected_gene': 'PCGF6', 'score': 10.41}, {'connected_gene': 'GSTO1', 'score': 7.27}, {'connected_gene': 'GSTO2', 'score': 4.81}, {'connected_gene': 'CFAP43', 'score': 4.32}, {'connected_gene': 'SH3PXD2A-AS1', 'score': 0.28}]
chr10 GH10I103751 103751763 103751912 0.63 [{'connected_gene': 'SH3PXD2A', 'score': 11.19}, {'connected_gene': 'GSTO2', 'score': 4.61}, {'connected_gene': 'SH3PXD2A-AS1', 'score': 0.44}]
chr10 GH10I103675 103675002 103679968 1.31 [{'connected_gene': 'SH3PXD2A', 'score': 11.06}, {'connected_gene': 'GSTO2', 'score': 6.36}, {'connected_gene': 'ENSG00000222503', 'score': 0.77}, {'connected_gene': 'GC10M103742', 'score': 0.21}]
chr10 GH10I103644 103644558 103651013 1.45 [{'connected_gene': 'SH3PXD2A', 'score': 13.99}, {'connected_gene': 'NEURL1-AS1', 'score': 10.11}, {'connected_gene': 'CALHM2', 'score': 7.09}, {'connected_gene': 'GSTO2', 'score': 6.32}, {'connected_gene': 'PIR41281', 'score': 0.34}, {'connected_gene': 'ENSG00000222503', 'score': 0.31}]
chr10 GH10I103651 103651023 103654485 0.94 [{'connected_gene': 'SH3PXD2A', 'score': 14.26}, {'connected_gene': 'NEURL1-AS1', 'score': 10.08}, {'connected_gene': 'GSTO2', 'score': 4.36}, {'connected_gene': 'ENSG00000222503', 'score': 0.34}, {'connected_gene': 'PIR41281', 'score': 0.31}]
chr10 GH10I103732 103732452 103733647 0.77 [{'connected_gene': 'GSTO1', 'score': 5.72}, {'connected_gene': 'GSTO2', 'score': 4.38}, {'connected_gene': 'GC10M103742', 'score': 0.44}, {'connected_gene': 'ENSG00000222503', 'score': 0.22}, {'connected_gene': 'SH3PXD2A', 'score': 0.13}]
chr10 GH10I104249 104249941 104257493 2.29 [{'connected_gene': 'GSTO1', 'score': 566.67}, {'connected_gene': 'GSTO2', 'score': 29.19}, {'connected_gene': 'ENSG00000260461', 'score': 19.75}, {'connected_gene': 'PDCD11', 'score': 11.74}, {'connected_gene': 'CFAP58', 'score': 10.78}, {'connected_gene': 'CFAP58-AS1', 'score': 10.76}, {'connected_gene': 'GC10M104249', 'score': 0.77}, {'connected_gene': 'MIR4482', 'score': 0.39}]
chr10 GH10I104291 104291201 104292192 1.35 [{'connected_gene': 'GSTO1', 'score': 7.44}, {'connected_gene': 'GC10P104302', 'score': 0.39}, {'connected_gene': 'GSTO2', 'score': 0.34}]
chr10 GH10I104316 104316368 104341174 2.81 [{'connected_gene': 'ITPRIP', 'score': 578.89}, {'connected_gene': 'GSTO2', 'score': 20.11}, {'connected_gene': 'PDCD11', 'score': 19.85}, {'connected_gene': 'CFAP58', 'score': 18.41}, {'connected_gene': 'SFR1', 'score': 15.41}, {'connected_gene': 'CFAP58-AS1', 'score': 12.26}, {'connected_gene': 'PCGF6', 'score': 10.39}, {'connected_gene': 'TAF5', 'score': 10.36}, {'connected_gene': 'ENSG00000260461', 'score': 10.23}, {'connected_gene': 'GSTO1', 'score': 9.75}, {'connected_gene': 'SLK', 'score': 3.03}, {'connected_gene': 'LOC101927472', 'score': 0.44}]
chr10 GH10I103771 103771403 103773437 1.57 [{'connected_gene': 'ATP5MD', 'score': 4.91}, {'connected_gene': 'GSTO2', 'score': 4.4}, {'connected_gene': 'SH3PXD2A-AS1', 'score': 0.31}, {'connected_gene': 'SH3PXD2A', 'score': 0.18}]
chr10 GH10I104231 104231572 104233200 2.03 [{'connected_gene': 'CFAP43', 'score': 557.52}, {'connected_gene': 'PDCD11', 'score': 16.94}, {'connected_gene': 'TAF5', 'score': 16.83}, {'connected_gene': 'RPEL1', 'score': 10.08}, {'connected_gene': 'GSTO2', 'score': 8.72}, {'connected_gene': 'GSTO1', 'score': 0.77}]
chr10 GH10I103928 103928644 103929903 0.72 [{'connected_gene': 'STN1', 'score': 6.86}, {'connected_gene': 'SLK', 'score': 6.81}, {'connected_gene': 'GSTO2', 'score': 4.91}, {'connected_gene': 'LOC102724351', 'score': 0.28}]
chr10 GH10I103458 103457840 103459600 1.24 [{'connected_gene': 'CALHM1', 'score': 550.77}, {'connected_gene': 'AS3MT', 'score': 11.45}, {'connected_gene': 'GSTO2', 'score': 4.42}, {'connected_gene': 'ENSG00000234699', 'score': 0.44}]
chr10 GH10I103665 103665063 103669847 1.53 [{'connected_gene': 'PDCD11', 'score': 18.23}, {'connected_gene': 'SH3PXD2A', 'score': 12.35}, {'connected_gene': 'PCGF6', 'score': 11.95}, {'connected_gene': 'SLK', 'score': 11.42}, {'connected_gene': 'BORCS7', 'score': 6.61}, {'connected_gene': 'GSTO2', 'score': 5.16}, {'connected_gene': 'ENSG00000222503', 'score': 0.44}, {'connected_gene': 'PIR41281', 'score': 0.28}]
chr10 GH10I104051 104051017 104055681 0.49 [{'connected_gene': 'COL17A1', 'score': 11.33}, {'connected_gene': 'SFR1', 'score': 10.8}, {'connected_gene': 'CFAP43', 'score': 8.51}, {'connected_gene': 'GSTO2', 'score': 6.03}, {'connected_gene': 'MIR936', 'score': 0.44}, {'connected_gene': 'GC10M104086', 'score': 0.29}, {'connected_gene': 'GC10M104085', 'score': 0.29}]
chr10 GH10I104293 104293000 104293296 0.95 [{'connected_gene': 'SFR1', 'score': 1.55}, {'connected_gene': 'GSTO1', 'score': 1.39}, {'connected_gene': 'GC10P104302', 'score': 0.44}, {'connected_gene': 'GSTO2', 'score': 0.34}]
chr10 GH10I103683 103683901 103684269 0.2 [{'connected_gene': 'GSTO2', 'score': 4.33}, {'connected_gene': 'ENSG00000222503', 'score': 0.39}, {'connected_gene': 'GC10M103742', 'score': 0.22}, {'connected_gene': 'SH3PXD2A', 'score': 0.09}]
chr10 GH10I104258 104258914 104261909 1.46 [{'connected_gene': 'GSTO2', 'score': 35.57}, {'connected_gene': 'GSTO1', 'score': 23.89}, {'connected_gene': 'MIR609', 'score': 10.65}, {'connected_gene': 'SFR1', 'score': 7.72}, {'connected_gene': 'SLK', 'score': 3.56}, {'connected_gene': 'CFAP58', 'score': 3.53}, {'connected_gene': 'ITPRIP', 'score': 1.24}, {'connected_gene': 'GC10M104249', 'score': 0.44}, {'connected_gene': 'MIR4482', 'score': 0.44}]
chr10 GH10I104274 104274315 104276005 1.83 [{'connected_gene': 'GSTO2', 'score': 590.11}, {'connected_gene': 'GSTO1', 'score': 16.51}, {'connected_gene': 'ENSG00000260461', 'score': 13.28}, {'connected_gene': 'PDCD11', 'score': 12.97}, {'connected_gene': 'CFAP58', 'score': 12.17}, {'connected_gene': 'CFAP58-AS1', 'score': 12.14}, {'connected_gene': 'GC10P104302', 'score': 0.31}]
chr10 GH10I104257 104257832 104258800 0.93 [{'connected_gene': 'GSTO2', 'score': 17.43}, {'connected_gene': 'GSTO1', 'score': 16.61}, {'connected_gene': 'GC10M104249', 'score': 0.44}, {'connected_gene': 'MIR4482', 'score': 0.39}]
chr10 GH10I104246 104246202 104248200 0.91 [{'connected_gene': 'GSTO2', 'score': 28.27}, {'connected_gene': 'MIR609', 'score': 11.0}, {'connected_gene': 'GSTO1', 'score': 7.42}, {'connected_gene': 'GC10M104249', 'score': 0.77}]
chr10 GH10I104242 104242732 104244361 0.68 [{'connected_gene': 'GSTO2', 'score': 15.32}, {'connected_gene': 'MIR609', 'score': 10.98}, {'connected_gene': 'ITPRIP', 'score': 10.19}, {'connected_gene': 'GSTO1', 'score': 0.44}, {'connected_gene': 'GC10M104249', 'score': 0.44}]
chr10 GH10I104303 104303239 104309332 1.27 [{'connected_gene': 'GSTO2', 'score': 19.91}, {'connected_gene': 'CFAP58', 'score': 12.6}, {'connected_gene': 'CFAP58-AS1', 'score': 12.55}, {'connected_gene': 'ITPRIP', 'score': 12.46}, {'connected_gene': 'GSTO1', 'score': 6.21}, {'connected_gene': 'GC10P104302', 'score': 0.77}, {'connected_gene': 'ENSG00000270075', 'score': 0.44}]
chr10 GH10I104296 104296758 104302741 1.14 [{'connected_gene': 'GSTO2', 'score': 17.71}, {'connected_gene': 'CFAP58', 'score': 12.27}, {'connected_gene': 'CFAP58-AS1', 'score': 12.23}, {'connected_gene': 'ITPRIP', 'score': 11.85}, {'connected_gene': 'GSTO1', 'score': 7.29}, {'connected_gene': 'GC10P104302', 'score': 0.77}]
chr10 GH10I104279 104279186 104279564 0.38 [{'connected_gene': 'GSTO2', 'score': 40.56}, {'connected_gene': 'CFAP58', 'score': 12.18}, {'connected_gene': 'CFAP58-AS1', 'score': 12.15}, {'connected_gene': 'ITPRIP', 'score': 11.28}, {'connected_gene': 'GSTO1', 'score': 6.57}, {'connected_gene': 'GC10P104302', 'score': 0.34}]
chr10 GH10I104229 104229802 104229999 0.2 [{'connected_gene': 'GSTO2', 'score': 14.3}, {'connected_gene': 'CFAP58', 'score': 9.72}, {'connected_gene': 'CFAP58-AS1', 'score': 9.71}, {'connected_gene': 'CFAP43', 'score': 0.77}, {'connected_gene': 'MIR609', 'score': 0.39}]
chr10 GH10I104267 104267129 104269928 2.13 [{'connected_gene': 'GSTO2', 'score': 584.81}, {'connected_gene': 'MIR4482', 'score': 550.77}, {'connected_gene': 'PDCD11', 'score': 30.74}, {'connected_gene': 'TAF5', 'score': 16.83}, {'connected_gene': 'GSTO1', 'score': 16.6}, {'connected_gene': 'PCGF6', 'score': 14.25}, {'connected_gene': 'CFAP58', 'score': 10.76}, {'connected_gene': 'CFAP58-AS1', 'score': 10.74}, {'connected_gene': 'GC10P104302', 'score': 0.29}]
chr10 GH10I103768 103767436 103768258 0.66 [{'connected_gene': 'GSTO2', 'score': 4.59}, {'connected_gene': 'SH3PXD2A-AS1', 'score': 0.34}, {'connected_gene': 'SH3PXD2A', 'score': 0.17}]
chr10 GH10I103763 103763463 103764552 1.13 [{'connected_gene': 'GSTO2', 'score': 4.67}, {'connected_gene': 'SH3PXD2A-AS1', 'score': 0.37}, {'connected_gene': 'SH3PXD2A', 'score': 0.16}]
chr10 GH10I103765 103764647 103766732 0.76 [{'connected_gene': 'GSTO2', 'score': 4.77}, {'connected_gene': 'SH3PXD2A-AS1', 'score': 0.37}, {'connected_gene': 'SH3PXD2A', 'score': 0.17}]
chr10 GH10I103775 103775214 103776243 0.43 [{'connected_gene': 'GSTO2', 'score': 4.95}, {'connected_gene': 'SH3PXD2A-AS1', 'score': 0.31}, {'connected_gene': 'SH3PXD2A', 'score': 0.18}]
chr10 GH10I103767 103767198 103767429 0.51 [{'connected_gene': 'GSTO2', 'score': 4.95}, {'connected_gene': 'SH3PXD2A-AS1', 'score': 0.34}, {'connected_gene': 'SH3PXD2A', 'score': 0.17}]
chr10 GH10I103510 103510188 103516213 1.12 [{'connected_gene': 'NEURL1-AS1', 'score': 11.02}, {'connected_gene': 'GSTO2', 'score': 5.36}, {'connected_gene': 'SH3PXD2A', 'score': 4.93}, {'connected_gene': 'NEURL1', 'score': 0.37}]
chr10 GH10I103744 103744462 103749621 1.04 [{'connected_gene': 'SH3PXD2A-AS1', 'score': 550.77}, {'connected_gene': 'SH3PXD2A', 'score': 11.38}, {'connected_gene': 'STN1', 'score': 10.5}, {'connected_gene': 'COL17A1', 'score': 9.35}, {'connected_gene': 'NT5C2', 'score': 4.72}, {'connected_gene': 'GSTO1', 'score': 4.63}, {'connected_gene': 'GSTO2', 'score': 4.55}]
chr10 GH10I104069 104069183 104070488 0.52 [{'connected_gene': 'MIR936', 'score': 11.57}, {'connected_gene': 'CFAP43', 'score': 6.23}, {'connected_gene': 'GSTO2', 'score': 5.74}, {'connected_gene': 'CFAP58', 'score': 5.08}, {'connected_gene': 'GC10M104086', 'score': 0.37}, {'connected_gene': 'GC10M104085', 'score': 0.37}, {'connected_gene': 'COL17A1', 'score': 0.37}]
chr10 GH10I104048 104048919 104050716 0.69 [{'connected_gene': 'MIR936', 'score': 550.77}, {'connected_gene': 'CFAP43', 'score': 7.94}, {'connected_gene': 'GSTO2', 'score': 6.34}, {'connected_gene': 'GC10M104086', 'score': 0.28}, {'connected_gene': 'GC10M104085', 'score': 0.28}, {'connected_gene': 'COL17A1', 'score': 0.28}]
chr10 GH10I103887 103887370 103891592 1.61 [{'connected_gene': 'GC10M103885', 'score': 550.77}, {'connected_gene': 'SLK', 'score': 17.77}, {'connected_gene': 'SH3PXD2A', 'score': 11.47}, {'connected_gene': 'MIR936', 'score': 10.68}, {'connected_gene': 'ENSG00000260461', 'score': 10.08}, {'connected_gene': 'STN1', 'score': 5.01}, {'connected_gene': 'COL17A1', 'score': 2.44}, {'connected_gene': 'SFR1', 'score': 2.24}, {'connected_gene': 'GSTO2', 'score': 2.21}, {'connected_gene': 'GSTO1', 'score': 1.33}, {'connected_gene': 'PIR55313', 'score': 0.44}, {'connected_gene': 'GC10M103884', 'score': 0.44}]
chr10 GH10I103742 103742968 103744260 0.46 [{'connected_gene': 'GC10M103742', 'score': 550.77}, {'connected_gene': 'SH3PXD2A', 'score': 11.37}, {'connected_gene': 'STN1', 'score': 10.5}, {'connected_gene': 'GSTO2', 'score': 4.51}, {'connected_gene': 'GSTO1', 'score': 4.49}, {'connected_gene': 'SH3PXD2A-AS1', 'score': 0.77}]
chr10 GH10I103869 103869557 103873902 1.01 [{'connected_gene': 'PIR55627', 'score': 550.77}, {'connected_gene': 'STN1', 'score': 11.78}, {'connected_gene': 'SH3PXD2A', 'score': 11.47}, {'connected_gene': 'SLK', 'score': 10.77}, {'connected_gene': 'MIR936', 'score': 10.6}, {'connected_gene': 'COL17A1', 'score': 6.44}, {'connected_gene': 'GSTO2', 'score': 4.47}, {'connected_gene': 'ENSG00000260461', 'score': 0.44}]
chr10 GH10I103833 103833202 103841810 1.34 [{'connected_gene': 'ENSG00000260461', 'score': 40.56}, {'connected_gene': 'PDCD11', 'score': 33.65}, {'connected_gene': 'GSTO2', 'score': 4.83}, {'connected_gene': 'STN1', 'score': 4.62}, {'connected_gene': 'SLK', 'score': 4.46}, {'connected_gene': 'SH3PXD2A', 'score': 0.37}, {'connected_gene': 'SH3PXD2A-AS1', 'score': 0.16}]
chr10 GH10I104302 104302954 104303235 0.58 [{'connected_gene': 'GC10P104302', 'score': 550.77}, {'connected_gene': 'CFAP58', 'score': 12.58}, {'connected_gene': 'CFAP58-AS1', 'score': 12.54}, {'connected_gene': 'ITPRIP', 'score': 11.35}, {'connected_gene': 'ENSG00000270075', 'score': 0.44}, {'connected_gene': 'GSTO2', 'score': 0.29}]
chr10 GH10I103843 103843219 103844982 0.71 [{'connected_gene': 'ENSG00000260461', 'score': 6.0}, {'connected_gene': 'GSTO2', 'score': 5.68}, {'connected_gene': 'SH3PXD2A', 'score': 0.39}, {'connected_gene': 'SH3PXD2A-AS1', 'score': 0.15}]
chr10 GH10I104309 104309482 104312021 0.86 [{'connected_gene': 'ENSG00000270075', 'score': 550.77}, {'connected_gene': 'GSTO2', 'score': 18.83}, {'connected_gene': 'ITPRIP', 'score': 12.93}, {'connected_gene': 'CFAP58', 'score': 12.47}, {'connected_gene': 'CFAP58-AS1', 'score': 12.42}, {'connected_gene': 'GC10P104302', 'score': 0.44}]
chr10 GH10I104292 104292601 104292800 0.4 [{'connected_gene': 'GC10P104302', 'score': 0.44}, {'connected_gene': 'GSTO2', 'score': 0.34}]

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