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
ENST00000412830 [[108079508, 108079748], [108082224, 108082283], [108082391, 108082579], [108086590, 108086676], [108086776, 108086873], [108090250, 108090361], [108091243, 108091374], [108093149, 108093211], [108096711, 108096808], [108097461, 108097523], [108098412, 108098524], [108102702, 108102793], [108102887, 108103009], [108104181, 108104287], [108105887, 108106944]] [[108079676, 108079748], [108082224, 108082283], [108082391, 108082579], [108086590, 108086676], [108086776, 108086873], [108090250, 108090361], [108091243, 108091374], [108093149, 108093211], [108096711, 108096808], [108097461, 108097523], [108098412, 108098524], [108102702, 108102793], [108102887, 108103009], [108104181, 108104287], [108105887, 108105997]]
ENST00000552760 [[108079578, 108079748], [108082224, 108082283], [108082391, 108082579], [108086590, 108086676], [108086748, 108086873], [108090250, 108090361], [108091243, 108091355]] [[108079676, 108079748], [108082224, 108082283], [108082391, 108082579], [108086590, 108086676], [108086748, 108086787]]
ENST00000547995 [[108079584, 108079748], [108082228, 108082283], [108082391, 108082579], [108086590, 108086676], [108086776, 108086852]] [[108082446, 108082579], [108086590, 108086676], [108086776, 108086852]]
ENST00000541166 [[108079818, 108079914], [108082224, 108082283], [108082391, 108082579], [108086590, 108086676], [108086776, 108086873], [108090250, 108090361], [108091243, 108091374], [108093149, 108093211], [108096711, 108096808], [108097461, 108097523], [108098412, 108098524], [108102702, 108102793], [108102887, 108103009], [108104181, 108104287], [108105887, 108106189]] [[108082446, 108082579], [108086590, 108086676], [108086776, 108086873], [108090250, 108090361], [108091243, 108091374], [108093149, 108093211], [108096711, 108096808], [108097461, 108097523], [108098412, 108098524], [108102702, 108102793], [108102887, 108103009], [108104181, 108104287], [108105887, 108105997]]
ENST00000547120 [[108086459, 108086676], [108086776, 108086873], [108090250, 108090361], [108091243, 108091361]] None
NM_007062 [[108079508, 108079748], [108082224, 108082283], [108082391, 108082579], [108086590, 108086676], [108086776, 108086873], [108090250, 108090361], [108091243, 108091374], [108093149, 108093211], [108096711, 108096808], [108097461, 108097523], [108098412, 108098524], [108102702, 108102793], [108102887, 108103009], [108104181, 108104287], [108105887, 108106939]] [[108079676, 108079748], [108082224, 108082283], [108082391, 108082579], [108086590, 108086676], [108086776, 108086873], [108090250, 108090361], [108091243, 108091374], [108093149, 108093211], [108096711, 108096808], [108097461, 108097523], [108098412, 108098524], [108102702, 108102793], [108102887, 108103009], [108104181, 108104287], [108105887, 108105997]]
NM_001317963 [[108079508, 108079748], [108082224, 108082283], [108082391, 108082579], [108086590, 108086676], [108086748, 108086873], [108090250, 108090361], [108091243, 108091374], [108093149, 108093211], [108096711, 108096808], [108097461, 108097523], [108098412, 108098524], [108102702, 108102793], [108102887, 108103009], [108104181, 108104287], [108105887, 108106939]] [[108091266, 108091374], [108093149, 108093211], [108096711, 108096808], [108097461, 108097523], [108098412, 108098524], [108102702, 108102793], [108102887, 108103009], [108104181, 108104287], [108105887, 108105997]]
NM_001317962 [[108079818, 108079914], [108082224, 108082283], [108082391, 108082579], [108086590, 108086676], [108086776, 108086873], [108090250, 108090361], [108091243, 108091374], [108093149, 108093211], [108096711, 108096808], [108097461, 108097523], [108098412, 108098524], [108102702, 108102793], [108102887, 108103009], [108104181, 108104287], [108105887, 108106939]] [[108082446, 108082579], [108086590, 108086676], [108086776, 108086873], [108090250, 108090361], [108091243, 108091374], [108093149, 108093211], [108096711, 108096808], [108097461, 108097523], [108098412, 108098524], [108102702, 108102793], [108102887, 108103009], [108104181, 108104287], [108105887, 108105997]]
Promoter
Chrom Start End Description
chr12 108079536 108079598 CAGE_peak_1_at_PWP1_5end
chr12 108079605 108079616 CAGE_peak_2_at_PWP1_5end
chr12 108079660 108079663 CAGE_peak_4_at_PWP1_5end
chr12 108079664 108079674 CAGE_peak_3_at_PWP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I108559 108559380 108571769 2.51 [{'connected_gene': 'SART3', 'score': 572.83}, {'connected_gene': 'ISCU', 'score': 567.41}, {'connected_gene': 'PWP1', 'score': 22.52}, {'connected_gene': 'FICD', 'score': 21.31}, {'connected_gene': 'UBE3B', 'score': 19.87}, {'connected_gene': 'PRDM4', 'score': 9.81}, {'connected_gene': 'GC12P108558', 'score': 0.44}, {'connected_gene': 'TMEM119', 'score': 0.29}, {'connected_gene': 'GC12M108565', 'score': 0.28}, {'connected_gene': 'GC12P108510', 'score': 0.22}]
chr12 GH12I108389 108389273 108389599 0.71 [{'connected_gene': 'SART3', 'score': 13.88}, {'connected_gene': 'ALKBH2', 'score': 13.79}, {'connected_gene': 'CMKLR1', 'score': 11.28}, {'connected_gene': 'PWP1', 'score': 10.73}, {'connected_gene': 'GC12M108391', 'score': 0.77}, {'connected_gene': 'GC12M108381', 'score': 0.44}]
chr12 GH12I108578 108578674 108579442 0.69 [{'connected_gene': 'SART3', 'score': 57.79}, {'connected_gene': 'PWP1', 'score': 55.09}, {'connected_gene': 'PRDM4', 'score': 39.14}, {'connected_gene': 'UBE3B', 'score': 18.02}, {'connected_gene': 'WSCD2', 'score': 15.09}, {'connected_gene': 'ALKBH2', 'score': 13.8}, {'connected_gene': 'LOC101929162', 'score': 12.36}, {'connected_gene': 'USP30', 'score': 11.96}, {'connected_gene': 'KCTD10', 'score': 11.12}, {'connected_gene': 'RNU4-32P', 'score': 9.96}, {'connected_gene': 'TMEM119', 'score': 4.84}, {'connected_gene': 'ISCU', 'score': 0.37}, {'connected_gene': 'GC12M108565', 'score': 0.31}]
chr12 GH12I107645 107645233 107647164 0.87 [{'connected_gene': 'MTERF2', 'score': 11.41}, {'connected_gene': 'SART3', 'score': 11.33}, {'connected_gene': 'ENSG00000260329', 'score': 9.83}, {'connected_gene': 'PWP1', 'score': 7.7}, {'connected_gene': 'ENSG00000222160', 'score': 0.77}, {'connected_gene': 'GC12M107595', 'score': 0.31}, {'connected_gene': 'BTBD11', 'score': 0.05}]
chr12 GH12I106984 106984883 106988173 2.04 [{'connected_gene': 'MTERF2', 'score': 558.1}, {'connected_gene': 'GC12P106984', 'score': 550.77}, {'connected_gene': 'PWP1', 'score': 14.38}, {'connected_gene': 'PRDM4', 'score': 13.67}, {'connected_gene': 'ENSG00000260329', 'score': 9.19}, {'connected_gene': 'CRY1', 'score': 4.31}]
chr12 GH12I108626 108626747 108650980 2.81 [{'connected_gene': 'SELPLG', 'score': 561.83}, {'connected_gene': 'PWP1', 'score': 46.82}, {'connected_gene': 'SART3', 'score': 38.69}, {'connected_gene': 'PRDM4', 'score': 20.42}, {'connected_gene': 'UBE3B', 'score': 20.14}, {'connected_gene': 'RNU4-32P', 'score': 19.44}, {'connected_gene': 'CORO1C', 'score': 17.53}, {'connected_gene': 'FICD', 'score': 15.49}, {'connected_gene': 'LOC101929162', 'score': 15.2}, {'connected_gene': 'TMEM119', 'score': 11.32}, {'connected_gene': 'RNU7-169P', 'score': 10.97}, {'connected_gene': 'LINC01498', 'score': 10.47}, {'connected_gene': 'ALKBH2', 'score': 10.34}, {'connected_gene': 'ENSG00000257221', 'score': 8.22}, {'connected_gene': 'FOXN4', 'score': 5.63}, {'connected_gene': 'MVK', 'score': 5.5}, {'connected_gene': 'ACACB', 'score': 4.69}, {'connected_gene': 'ISCU', 'score': 4.63}, {'connected_gene': 'SSH1', 'score': 1.87}, {'connected_gene': 'MIR4496', 'score': 0.77}, {'connected_gene': 'GC12P108645', 'score': 0.44}, {'connected_gene': 'GC12P108633', 'score': 0.44}, {'connected_gene': 'LOC105369968', 'score': 0.39}]
chr12 GH12I106773 106773255 106776228 2.1 [{'connected_gene': 'RIC8B', 'score': 550.77}, {'connected_gene': 'LOC100287944', 'score': 550.77}, {'connected_gene': 'PWP1', 'score': 12.88}]
chr12 GH12I107671 107671144 107671293 0.74 [{'connected_gene': 'BTBD11', 'score': 9.2}, {'connected_gene': 'PWP1', 'score': 0.39}, {'connected_gene': 'ENSG00000222160', 'score': 0.34}]
chr12 GH12I108514 108514564 108516839 2.01 [{'connected_gene': 'FICD', 'score': 571.01}, {'connected_gene': 'PWP1', 'score': 24.07}, {'connected_gene': 'SART3', 'score': 19.89}, {'connected_gene': 'KCTD10', 'score': 17.39}, {'connected_gene': 'LOC101929162', 'score': 13.06}, {'connected_gene': 'ALKBH2', 'score': 11.05}, {'connected_gene': 'UBE3B', 'score': 10.29}, {'connected_gene': 'ISCU', 'score': 8.28}, {'connected_gene': 'GC12P108510', 'score': 0.44}, {'connected_gene': 'PIR52944', 'score': 0.44}]
chr12 GH12I108614 108614207 108615339 0.62 [{'connected_gene': 'PWP1', 'score': 16.11}, {'connected_gene': 'SART3', 'score': 13.6}, {'connected_gene': 'ALKBH2', 'score': 12.03}, {'connected_gene': 'UBE3B', 'score': 11.91}, {'connected_gene': 'TMEM119', 'score': 11.72}, {'connected_gene': 'PRDM4', 'score': 10.94}, {'connected_gene': 'ISCU', 'score': 6.06}, {'connected_gene': 'GC12M108565', 'score': 0.44}, {'connected_gene': 'LOC105369968', 'score': 0.39}]
chr12 GH12I108117 108117309 108117799 0.9 [{'connected_gene': 'PWP1', 'score': 12.9}, {'connected_gene': 'DAO', 'score': 4.59}, {'connected_gene': 'WSCD2', 'score': 0.39}, {'connected_gene': 'GC12P108090', 'score': 0.31}]
chr12 GH12I107514 107514736 107516718 1.01 [{'connected_gene': 'PWP1', 'score': 11.49}, {'connected_gene': 'CRY1', 'score': 10.2}, {'connected_gene': 'PRDM4', 'score': 9.86}, {'connected_gene': 'ENSG00000200897', 'score': 9.84}, {'connected_gene': 'BTBD11', 'score': 5.6}, {'connected_gene': 'RNA5SP371', 'score': 0.31}, {'connected_gene': 'ENSG00000257579', 'score': 0.15}]
chr12 GH12I107104 107104601 107104972 0.92 [{'connected_gene': 'PWP1', 'score': 11.93}, {'connected_gene': 'PRDM4', 'score': 10.08}, {'connected_gene': 'MTERF2', 'score': 9.82}, {'connected_gene': 'ENSG00000257548', 'score': 0.39}, {'connected_gene': 'CRY1', 'score': 0.39}, {'connected_gene': 'GC12M107118', 'score': 0.37}]
chr12 GH12I107747 107747246 107750276 0.78 [{'connected_gene': 'PWP1', 'score': 25.15}, {'connected_gene': 'PRDM4', 'score': 15.68}, {'connected_gene': 'ASCL4', 'score': 10.95}, {'connected_gene': 'GC12M107739', 'score': 0.44}, {'connected_gene': 'LOC101929162', 'score': 0.39}]
chr12 GH12I107057 107057263 107057412 0.79 [{'connected_gene': 'PWP1', 'score': 12.78}, {'connected_gene': 'LOC101929162', 'score': 10.4}, {'connected_gene': 'CRY1', 'score': 10.16}, {'connected_gene': 'MTERF2', 'score': 10.09}, {'connected_gene': 'PRDM4', 'score': 9.98}, {'connected_gene': 'PIR33339', 'score': 0.34}, {'connected_gene': 'ENSG00000257548', 'score': 0.28}]
chr12 GH12I107684 107684455 107687001 2.06 [{'connected_gene': 'PWP1', 'score': 564.56}, {'connected_gene': 'ENSG00000222160', 'score': 0.29}]
chr12 GH12I107661 107660281 107660553 0.69 [{'connected_gene': 'PWP1', 'score': 11.12}, {'connected_gene': 'ENSG00000222160', 'score': 0.44}]
chr12 GH12I107660 107660889 107660991 0.4 [{'connected_gene': 'PWP1', 'score': 11.15}, {'connected_gene': 'ENSG00000222160', 'score': 0.39}]
chr12 GH12I107662 107662516 107662782 0.26 [{'connected_gene': 'PWP1', 'score': 11.15}, {'connected_gene': 'ENSG00000222160', 'score': 0.39}]
chr12 GH12I107758 107758604 107762329 2.23 [{'connected_gene': 'PRDM4', 'score': 565.96}, {'connected_gene': 'PWP1', 'score': 19.39}, {'connected_gene': 'GC12M107739', 'score': 0.37}, {'connected_gene': 'LOC101929162', 'score': 0.34}]
chr12 GH12I107709 107709517 107709530 0.36 [{'connected_gene': 'PRDM4', 'score': 2.21}, {'connected_gene': 'PIR45111', 'score': 0.77}, {'connected_gene': 'PWP1', 'score': 0.34}]
chr12 GH12I107703 107703538 107704412 0.43 [{'connected_gene': 'PRDM4', 'score': 15.67}, {'connected_gene': 'PIR45111', 'score': 0.44}, {'connected_gene': 'PWP1', 'score': 0.37}]
chr12 GH12I107676 107676364 107676513 0.63 [{'connected_gene': 'PRDM4', 'score': 10.8}, {'connected_gene': 'PWP1', 'score': 0.44}, {'connected_gene': 'ENSG00000222160', 'score': 0.31}]
chr12 GH12I108118 108118381 108120258 0.94 [{'connected_gene': 'LOC101929162', 'score': 15.22}, {'connected_gene': 'SART3', 'score': 14.14}, {'connected_gene': 'PWP1', 'score': 13.95}, {'connected_gene': 'WSCD2', 'score': 4.94}, {'connected_gene': 'GC12P108090', 'score': 0.31}]
chr12 GH12I107735 107735833 107738313 0.86 [{'connected_gene': 'LOC101929162', 'score': 550.77}, {'connected_gene': 'PWP1', 'score': 26.13}, {'connected_gene': 'PRDM4', 'score': 15.79}, {'connected_gene': 'GC12M107739', 'score': 0.44}]
chr12 GH12I108605 108605239 108606746 0.9 [{'connected_gene': 'GC12M108565', 'score': 550.77}, {'connected_gene': 'SART3', 'score': 98.2}, {'connected_gene': 'PWP1', 'score': 79.3}, {'connected_gene': 'ALKBH2', 'score': 33.12}, {'connected_gene': 'PRDM4', 'score': 30.14}, {'connected_gene': 'RNU4-32P', 'score': 24.91}, {'connected_gene': 'LOC101929162', 'score': 22.79}, {'connected_gene': 'UBE3B', 'score': 19.49}, {'connected_gene': 'USP30', 'score': 11.96}, {'connected_gene': 'TMEM119', 'score': 10.27}, {'connected_gene': 'ISCU', 'score': 4.93}, {'connected_gene': 'LOC105369968', 'score': 0.34}]
chr12 GH12I107912 107912400 107912601 1.42 [{'connected_gene': 'ENSG00000257129', 'score': 550.77}, {'connected_gene': 'SART3', 'score': 13.45}, {'connected_gene': 'LOC101929162', 'score': 11.33}, {'connected_gene': 'PWP1', 'score': 10.07}, {'connected_gene': 'LOC105369964', 'score': 0.77}]
chr12 GH12I108046 108046178 108047792 0.69 [{'connected_gene': 'PIR57656', 'score': 550.77}, {'connected_gene': 'PWP1', 'score': 16.12}, {'connected_gene': 'SART3', 'score': 14.4}, {'connected_gene': 'CRY1', 'score': 12.74}, {'connected_gene': 'PRDM4', 'score': 12.4}, {'connected_gene': 'GC12P108090', 'score': 0.26}]
chr12 GH12I108268 108268524 108268653 0.64 [{'connected_gene': 'GC12M108264', 'score': 550.77}, {'connected_gene': 'PWP1', 'score': 16.09}, {'connected_gene': 'SART3', 'score': 14.43}, {'connected_gene': 'PRDM4', 'score': 12.37}, {'connected_gene': 'ALKBH2', 'score': 10.63}, {'connected_gene': 'LOC105369965', 'score': 0.29}]
chr12 GH12I107649 107649201 107650524 0.38 [{'connected_gene': 'ENSG00000222160', 'score': 550.77}, {'connected_gene': 'PWP1', 'score': 7.88}, {'connected_gene': 'GC12M107595', 'score': 0.31}, {'connected_gene': 'BTBD11', 'score': 0.06}]
chr12 GH12I107729 107729962 107733446 0.43 [{'connected_gene': 'GC12M107733', 'score': 550.77}, {'connected_gene': 'PWP1', 'score': 26.16}, {'connected_gene': 'PRDM4', 'score': 15.76}, {'connected_gene': 'GC12M107724', 'score': 0.77}]
chr12 GH12I107784 107784297 107784955 0.43 [{'connected_gene': 'GC12P107784', 'score': 550.77}, {'connected_gene': 'PRDM4', 'score': 11.4}, {'connected_gene': 'PWP1', 'score': 4.84}, {'connected_gene': 'ASCL4', 'score': 0.39}]

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