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
ENST00000361983 [[70748486, 70749014], [70760179, 70760278], [70764801, 70764881], [70765487, 70765671], [70768596, 70768681], [70770655, 70770771], [70775296, 70776738]] [[70748588, 70749014], [70760179, 70760278], [70764801, 70764881], [70765487, 70765671], [70768596, 70768681], [70770655, 70770771], [70775296, 70776172]]
ENST00000481912 [[70767410, 70767507], [70768596, 70768681], [70770655, 70770771], [70770957, 70771025]] None
NM_015634 [[70748476, 70749014], [70760179, 70760278], [70764801, 70764881], [70765487, 70765671], [70768596, 70768681], [70770655, 70770771], [70775296, 70776739]] [[70748588, 70749014], [70760179, 70760278], [70764801, 70764881], [70765487, 70765671], [70768596, 70768681], [70770655, 70770771], [70775296, 70776172]]
Promoter
Chrom Start End Description
chr10 70748487 70748498 CAGE_peak_2_at_KIAA1279_5end
chr10 70748523 70748581 CAGE_peak_1_at_KIAA1279_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I068998 68997401 68997600 0.54 [{'connected_gene': 'VPS26A', 'score': 12.17}, {'connected_gene': 'SRGN', 'score': 11.68}, {'connected_gene': 'HKDC1', 'score': 10.49}, {'connected_gene': 'KIF1BP', 'score': 0.44}, {'connected_gene': 'MED28P1', 'score': 0.44}, {'connected_gene': 'ACTBP14', 'score': 0.31}]
chr10 GH10I068997 68997785 68997934 0.56 [{'connected_gene': 'VPS26A', 'score': 12.17}, {'connected_gene': 'SRGN', 'score': 11.68}, {'connected_gene': 'HKDC1', 'score': 10.49}, {'connected_gene': 'KIF1BP', 'score': 0.44}, {'connected_gene': 'MED28P1', 'score': 0.44}, {'connected_gene': 'ACTBP14', 'score': 0.34}]
chr10 GH10I069757 69757351 69758659 1 [{'connected_gene': 'DDX50', 'score': 49.52}, {'connected_gene': 'CEP57L1P1', 'score': 27.96}, {'connected_gene': 'PALD1', 'score': 18.73}, {'connected_gene': 'COL13A1', 'score': 11.17}, {'connected_gene': 'FAM241B', 'score': 10.3}, {'connected_gene': 'KIF1BP', 'score': 9.89}, {'connected_gene': 'TSPAN15', 'score': 4.72}, {'connected_gene': 'RPL5P26', 'score': 0.34}, {'connected_gene': 'GC10P069687', 'score': 0.19}]
chr10 GH10I068899 68899372 68902725 2.1 [{'connected_gene': 'DDX50', 'score': 573.36}, {'connected_gene': 'PIR62040', 'score': 550.77}, {'connected_gene': 'RPL26P27', 'score': 14.07}, {'connected_gene': 'CCAR1', 'score': 13.76}, {'connected_gene': 'MIR1254-1', 'score': 11.54}, {'connected_gene': 'DDX21', 'score': 9.88}, {'connected_gene': 'KIF1BP', 'score': 4.91}, {'connected_gene': 'GC10M068913', 'score': 0.39}, {'connected_gene': 'RNU6-571P', 'score': 0.39}]
chr10 GH10I068720 68720211 68723064 2.09 [{'connected_gene': 'CCAR1', 'score': 588.2}, {'connected_gene': 'DDX50', 'score': 33.02}, {'connected_gene': 'STOX1', 'score': 31.06}, {'connected_gene': 'SIRT1', 'score': 24.22}, {'connected_gene': 'KIF1BP', 'score': 17.67}, {'connected_gene': 'HNRNPH3', 'score': 14.33}, {'connected_gene': 'HERC4', 'score': 11.97}, {'connected_gene': 'RPL12P8', 'score': 9.95}, {'connected_gene': 'RPL26P27', 'score': 9.84}, {'connected_gene': 'ENSG00000195401', 'score': 0.39}]
chr10 GH10I069059 69059602 69063350 1.7 [{'connected_gene': 'CCAR1', 'score': 17.2}, {'connected_gene': 'SRGN', 'score': 16.12}, {'connected_gene': 'HNRNPH3', 'score': 13.73}, {'connected_gene': 'HERC4', 'score': 12.93}, {'connected_gene': 'DDX50', 'score': 12.45}, {'connected_gene': 'SUPV3L1', 'score': 12.18}, {'connected_gene': 'KIF1BP', 'score': 11.79}, {'connected_gene': 'VPS26A', 'score': 4.59}, {'connected_gene': 'DDX21', 'score': 1.58}, {'connected_gene': 'GC10P069071', 'score': 0.39}, {'connected_gene': 'GC10P069047', 'score': 0.39}]
chr10 GH10I068119 68119294 68120402 0.77 [{'connected_gene': 'CCAR1', 'score': 120.4}, {'connected_gene': 'HNRNPH3', 'score': 90.09}, {'connected_gene': 'DDX50', 'score': 71.64}, {'connected_gene': 'SIRT1', 'score': 63.64}, {'connected_gene': 'HERC4', 'score': 60.42}, {'connected_gene': 'TET1', 'score': 20.33}, {'connected_gene': 'KIF1BP', 'score': 19.78}, {'connected_gene': 'RUFY2', 'score': 13.61}, {'connected_gene': 'ENSG00000260400', 'score': 11.11}, {'connected_gene': 'RPL26P27', 'score': 10.1}, {'connected_gene': 'RPS3AP38', 'score': 9.98}, {'connected_gene': 'RPL12P8', 'score': 9.84}, {'connected_gene': 'MYPN', 'score': 0.39}, {'connected_gene': 'RN7SKP202', 'score': 0.28}]
chr10 GH10I068976 68976098 68976164 0.53 [{'connected_gene': 'CCAR1', 'score': 11.26}, {'connected_gene': 'MIR1254-1', 'score': 10.12}, {'connected_gene': 'SUPV3L1', 'score': 3.71}, {'connected_gene': 'DDX21', 'score': 2.08}, {'connected_gene': 'DDX50', 'score': 1.34}, {'connected_gene': 'GC10M068939', 'score': 0.44}, {'connected_gene': 'KIF1BP', 'score': 0.39}]
chr10 GH10I069004 69004945 69005094 0.6 [{'connected_gene': 'SRGN', 'score': 12.25}, {'connected_gene': 'VPS26A', 'score': 11.84}, {'connected_gene': 'DDX21', 'score': 11.22}, {'connected_gene': 'MED28P1', 'score': 0.39}, {'connected_gene': 'ACTBP14', 'score': 0.37}, {'connected_gene': 'KIF1BP', 'score': 0.37}]
chr10 GH10I069055 69055566 69059200 1.54 [{'connected_gene': 'SRGN', 'score': 12.88}, {'connected_gene': 'KIF1BP', 'score': 9.13}, {'connected_gene': 'DDX21', 'score': 1.35}, {'connected_gene': 'GC10P069047', 'score': 0.44}, {'connected_gene': 'GC10P069071', 'score': 0.39}]
chr10 GH10I069012 69012945 69013094 0.2 [{'connected_gene': 'SRGN', 'score': 12.38}, {'connected_gene': 'KIF1BP', 'score': 11.74}, {'connected_gene': 'MED28P1', 'score': 11.74}, {'connected_gene': 'VPS26A', 'score': 11.49}, {'connected_gene': 'ACTBP14', 'score': 0.44}]
chr10 GH10I069027 69027525 69028186 0.54 [{'connected_gene': 'SRGN', 'score': 12.33}, {'connected_gene': 'KIF1BP', 'score': 11.84}, {'connected_gene': 'MED28P1', 'score': 11.84}, {'connected_gene': 'VPS26A', 'score': 11.54}, {'connected_gene': 'STOX1', 'score': 8.64}, {'connected_gene': 'ACTBP14', 'score': 0.44}, {'connected_gene': 'GC10M069014', 'score': 0.37}]
chr10 GH10I069014 69014285 69014434 0.31 [{'connected_gene': 'SRGN', 'score': 12.16}, {'connected_gene': 'MED28P1', 'score': 11.0}, {'connected_gene': 'KIF1BP', 'score': 10.97}, {'connected_gene': 'VPS26A', 'score': 10.6}, {'connected_gene': 'ACTBP14', 'score': 0.44}, {'connected_gene': 'GC10M069014', 'score': 0.31}]
chr10 GH10I069031 69031601 69031800 0.2 [{'connected_gene': 'SRGN', 'score': 12.09}, {'connected_gene': 'MED28P1', 'score': 10.82}, {'connected_gene': 'KIF1BP', 'score': 10.82}, {'connected_gene': 'VPS26A', 'score': 10.76}, {'connected_gene': 'ENSG00000231748', 'score': 9.03}, {'connected_gene': 'HK1', 'score': 9.03}, {'connected_gene': 'ACTBP14', 'score': 0.44}, {'connected_gene': 'GC10M069014', 'score': 0.39}]
chr10 GH10I068954 68954590 68958428 2.31 [{'connected_gene': 'DDX21', 'score': 564.95}, {'connected_gene': 'DDX50', 'score': 54.89}, {'connected_gene': 'CCAR1', 'score': 50.64}, {'connected_gene': 'HERC4', 'score': 34.88}, {'connected_gene': 'HNRNPH3', 'score': 21.05}, {'connected_gene': 'KIF1BP', 'score': 16.64}, {'connected_gene': 'RPL26P27', 'score': 11.0}, {'connected_gene': 'VPS26A', 'score': 10.61}, {'connected_gene': 'STOX1', 'score': 5.87}, {'connected_gene': 'GC10P068966', 'score': 0.44}, {'connected_gene': 'GC10M068939', 'score': 0.39}]
chr10 GH10I069023 69023133 69023257 0.4 [{'connected_gene': 'ACTBP14', 'score': 550.77}, {'connected_gene': 'SRGN', 'score': 12.61}, {'connected_gene': 'GC10M069014', 'score': 0.37}, {'connected_gene': 'KIF1BP', 'score': 0.29}]
chr10 GH10I069064 69064001 69066799 1.49 [{'connected_gene': 'KIF1BP', 'score': 17.39}, {'connected_gene': 'SRGN', 'score': 11.14}, {'connected_gene': 'MED28P1', 'score': 10.52}, {'connected_gene': 'LOC101928994', 'score': 4.87}, {'connected_gene': 'HK1', 'score': 2.27}, {'connected_gene': 'VPS26A', 'score': 2.09}, {'connected_gene': 'GC10P069071', 'score': 0.44}, {'connected_gene': 'GC10P069047', 'score': 0.37}]
chr10 GH10I068606 68606714 68607595 0.2 [{'connected_gene': 'KIF1BP', 'score': 5.11}, {'connected_gene': 'GC10P068600', 'score': 0.44}, {'connected_gene': 'COX20P1', 'score': 0.31}, {'connected_gene': 'TET1', 'score': 0.25}]
chr10 GH10I069100 69100530 69103441 1 [{'connected_gene': 'KIF1BP', 'score': 10.65}, {'connected_gene': 'MED28P1', 'score': 10.65}, {'connected_gene': 'VPS26A', 'score': 6.72}, {'connected_gene': 'SUPV3L1', 'score': 5.1}, {'connected_gene': 'ENSG00000274008', 'score': 0.77}, {'connected_gene': 'GC10P069106', 'score': 0.77}, {'connected_gene': 'SRGN', 'score': 0.39}, {'connected_gene': 'GC10P069071', 'score': 0.29}]
chr10 GH10I068988 68988105 68990408 2.07 [{'connected_gene': 'KIF1BP', 'score': 607.61}, {'connected_gene': 'MED28P1', 'score': 550.77}, {'connected_gene': 'DDX50', 'score': 22.97}, {'connected_gene': 'HNRNPH3', 'score': 20.05}, {'connected_gene': 'CCAR1', 'score': 14.0}, {'connected_gene': 'HERC4', 'score': 11.8}, {'connected_gene': 'RPL26P27', 'score': 11.0}]
chr10 GH10I069343 69343933 69350450 1.08 [{'connected_gene': 'HK1', 'score': 15.81}, {'connected_gene': 'RUFY2', 'score': 13.57}, {'connected_gene': 'TET1', 'score': 12.37}, {'connected_gene': 'ENSG00000231748', 'score': 11.36}, {'connected_gene': 'ENSG00000260400', 'score': 11.11}, {'connected_gene': 'KIF1BP', 'score': 9.92}, {'connected_gene': 'RPL26P27', 'score': 5.5}, {'connected_gene': 'RPS15AP28', 'score': 0.25}, {'connected_gene': 'TACR2', 'score': 0.2}]
chr10 GH10I068617 68617275 68619548 0.66 [{'connected_gene': 'STOX1', 'score': 9.84}, {'connected_gene': 'KIF1BP', 'score': 7.91}, {'connected_gene': 'DNA2', 'score': 5.76}, {'connected_gene': 'COX20P1', 'score': 0.39}, {'connected_gene': 'GC10P068600', 'score': 0.37}, {'connected_gene': 'TET1', 'score': 0.22}]
chr10 GH10I068991 68991801 68993907 0.74 [{'connected_gene': 'MED28P1', 'score': 550.77}, {'connected_gene': 'KIF1BP', 'score': 57.4}, {'connected_gene': 'SRGN', 'score': 11.99}, {'connected_gene': 'DDX21', 'score': 11.61}, {'connected_gene': 'VPS26A', 'score': 11.26}, {'connected_gene': 'HKDC1', 'score': 10.66}, {'connected_gene': 'ACTBP14', 'score': 0.31}]
chr10 GH10I068977 68976268 68976628 0.5 [{'connected_gene': 'MIR1254-1', 'score': 10.12}, {'connected_gene': 'CCAR1', 'score': 10.11}, {'connected_gene': 'SRGN', 'score': 2.03}, {'connected_gene': 'GC10M068939', 'score': 0.44}, {'connected_gene': 'KIF1BP', 'score': 0.39}, {'connected_gene': 'DDX21', 'score': 0.34}]
chr10 GH10I069043 69043652 69055158 1.6 [{'connected_gene': 'GC10P069047', 'score': 550.77}, {'connected_gene': 'SRGN', 'score': 32.03}, {'connected_gene': 'VPS26A', 'score': 13.28}, {'connected_gene': 'KIF1BP', 'score': 12.5}, {'connected_gene': 'HKDC1', 'score': 4.93}, {'connected_gene': 'DDX21', 'score': 1.91}, {'connected_gene': 'HK1', 'score': 1.14}, {'connected_gene': 'LOC105378342', 'score': 0.77}, {'connected_gene': 'GC10M069045', 'score': 0.77}, {'connected_gene': 'GC10P069071', 'score': 0.34}]
chr10 GH10I069106 69106562 69107529 0.38 [{'connected_gene': 'GC10P069107', 'score': 550.77}, {'connected_gene': 'GC10P069106', 'score': 550.77}, {'connected_gene': 'KIF1BP', 'score': 11.37}, {'connected_gene': 'MED28P1', 'score': 11.37}, {'connected_gene': 'VPS26A', 'score': 6.75}, {'connected_gene': 'GC10P069071', 'score': 0.28}]
chr10 GH10I068875 68875403 68879333 0.92 [{'connected_gene': 'PIR61944', 'score': 550.77}, {'connected_gene': 'PIR49702', 'score': 550.77}, {'connected_gene': 'STOX1', 'score': 31.71}, {'connected_gene': 'DDX50', 'score': 12.6}, {'connected_gene': 'MIR1254-1', 'score': 10.42}, {'connected_gene': 'CCAR1', 'score': 10.39}, {'connected_gene': 'KIF1BP', 'score': 5.23}]
chr10 GH10I068630 68630552 68632542 0.57 [{'connected_gene': 'GC10P068633', 'score': 550.77}, {'connected_gene': 'COX20P1', 'score': 550.77}, {'connected_gene': 'CCAR1', 'score': 18.3}, {'connected_gene': 'STOX1', 'score': 16.74}, {'connected_gene': 'DDX50', 'score': 15.85}, {'connected_gene': 'SIRT1', 'score': 12.16}, {'connected_gene': 'HNRNPH3', 'score': 11.69}, {'connected_gene': 'HERC4', 'score': 11.29}, {'connected_gene': 'KIF1BP', 'score': 10.05}, {'connected_gene': 'ATOH7', 'score': 5.23}, {'connected_gene': 'MYPN', 'score': 4.95}, {'connected_gene': 'GC10P068600', 'score': 0.29}, {'connected_gene': 'TET1', 'score': 0.19}]
chr10 GH10I069104 69104669 69106074 0.57 [{'connected_gene': 'GC10P069107', 'score': 550.77}, {'connected_gene': 'GC10P069106', 'score': 550.77}, {'connected_gene': 'MED28P1', 'score': 11.38}, {'connected_gene': 'KIF1BP', 'score': 11.37}, {'connected_gene': 'SUPV3L1', 'score': 4.98}, {'connected_gene': 'ENSG00000274008', 'score': 0.44}, {'connected_gene': 'SRGN', 'score': 0.37}, {'connected_gene': 'GC10P069071', 'score': 0.29}]

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