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
ENST00000297591 [[95499920, 95501088], [95502166, 95502310], [95503805, 95504137], [95504879, 95505046], [95507087, 95507184], [95507958, 95508119], [95508555, 95508708], [95511601, 95511734], [95518727, 95518945], [95521915, 95522168], [95522644, 95522880], [95523412, 95523957], [95524223, 95524317], [95527096, 95527179], [95530015, 95530170], [95531212, 95531704], [95538450, 95539591], [95541297, 95541570], [95543190, 95543313], [95547066, 95547235], [95549330, 95549379], [95550487, 95550574], [95556054, 95556170], [95565612, 95565751]] [[95500933, 95501088], [95502166, 95502310], [95503805, 95504137], [95504879, 95505046], [95507087, 95507184], [95507958, 95508119], [95508555, 95508708], [95511601, 95511734], [95518727, 95518945], [95521915, 95522168], [95522644, 95522880], [95523412, 95523957], [95524223, 95524317], [95527096, 95527179], [95530015, 95530170], [95531212, 95531704], [95538450, 95539591], [95541297, 95541570], [95543190, 95543313], [95547066, 95547235], [95549330, 95549379], [95550487, 95550574], [95556054, 95556170], [95565612, 95565675]]
ENST00000437199 [[95500599, 95501088], [95502166, 95502310], [95503805, 95504137], [95504879, 95505046], [95507087, 95507184], [95507958, 95508119], [95508555, 95508708], [95518727, 95518945], [95521915, 95522168], [95522644, 95522880], [95523412, 95523957], [95524223, 95524317], [95527096, 95527179], [95530015, 95530170], [95531212, 95531704], [95538450, 95539591], [95541297, 95541570], [95543190, 95543313], [95547066, 95547235], [95549330, 95549379], [95550487, 95550574], [95556054, 95556170], [95565612, 95565688]] [[95508671, 95508708], [95518727, 95518945], [95521915, 95522168], [95522644, 95522880], [95523412, 95523957], [95524223, 95524317], [95527096, 95527179], [95530015, 95530170], [95531212, 95531704], [95538450, 95539591], [95541297, 95541570], [95543190, 95543313], [95547066, 95547235], [95549330, 95549379], [95550487, 95550574], [95556054, 95556170], [95565612, 95565675]]
ENST00000421249 [[95522960, 95523957], [95524223, 95524317], [95527096, 95527179], [95530015, 95530170], [95531212, 95531704], [95538450, 95539591], [95541297, 95541570], [95543190, 95543313], [95547066, 95547235], [95549330, 95549379], [95550487, 95550574], [95556054, 95556170], [95565612, 95565757]] [[95523358, 95523957], [95524223, 95524317], [95527096, 95527179], [95530015, 95530170], [95531212, 95531704], [95538450, 95539591], [95541297, 95541570], [95543190, 95543313], [95547066, 95547235], [95549330, 95549379], [95550487, 95550574], [95556054, 95556170], [95565612, 95565675]]
ENST00000519001 [[95541444, 95541570], [95543190, 95543313], [95549330, 95549379], [95550487, 95550574], [95556054, 95556129]] None
ENST00000521080 [[95500747, 95501088], [95502166, 95502310], [95503805, 95504137], [95504879, 95505046], [95507958, 95511734], [95518727, 95518945], [95521915, 95522168], [95522644, 95522880], [95523412, 95523957], [95524223, 95524683]] None
ENST00000522263 [[95500747, 95501088], [95502166, 95502310], [95504879, 95505046], [95507087, 95507184], [95507958, 95508119], [95508555, 95508708], [95518727, 95518945], [95521915, 95522168], [95522644, 95522880], [95523412, 95523957], [95524223, 95524317], [95527096, 95527179], [95530015, 95530170], [95531212, 95531704], [95538450, 95538530]] [[95508671, 95508708], [95518727, 95518945], [95521915, 95522168], [95522644, 95522880], [95523412, 95523957], [95524223, 95524317], [95527096, 95527179], [95530015, 95530170], [95531212, 95531704], [95538450, 95538530]]
ENST00000522196 [[95500748, 95501088], [95502166, 95502400]] None
ENST00000517624 [[95500842, 95501088], [95502166, 95502310], [95504879, 95504986]] [[95502234, 95502310], [95504879, 95504986]]
ENST00000523263 [[95503965, 95504137], [95504879, 95505046], [95507958, 95508119], [95508555, 95508664]] [[95505042, 95505046], [95507958, 95508119], [95508555, 95508664]]
ENST00000523405 [[95521984, 95522168], [95523412, 95523790]] None
Promoter
Chrom Start End Description
chr8 95565673 95565714 CAGE_peak_1_at_KIAA1429_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I094894 94894090 94897648 2.02 [{'connected_gene': 'CCNE2', 'score': 550.77}, {'connected_gene': 'NDUFAF6', 'score': 550.77}, {'connected_gene': 'INTS8', 'score': 34.51}, {'connected_gene': 'VIRMA', 'score': 13.46}, {'connected_gene': 'MIR3150BHG', 'score': 7.44}, {'connected_gene': 'TP53INP1', 'score': 6.69}]
chr8 GH08I095132 95132162 95144753 2.7 [{'connected_gene': 'PLEKHF2', 'score': 558.03}, {'connected_gene': 'TP53INP1', 'score': 12.44}, {'connected_gene': 'VIRMA', 'score': 11.97}, {'connected_gene': 'ENSG00000254248', 'score': 11.46}, {'connected_gene': 'RNU6-1209P', 'score': 10.51}, {'connected_gene': 'ENSG00000253878', 'score': 10.32}, {'connected_gene': 'INTS8', 'score': 10.05}, {'connected_gene': 'MIR3150BHG', 'score': 8.0}, {'connected_gene': 'GC08P095140', 'score': 0.77}]
chr8 GH08I094904 94904492 94908047 1.11 [{'connected_gene': 'INTS8', 'score': 63.97}, {'connected_gene': 'VIRMA', 'score': 32.67}, {'connected_gene': 'TP53INP1', 'score': 19.04}, {'connected_gene': 'ENSG00000253878', 'score': 10.99}, {'connected_gene': 'NDUFAF6', 'score': 6.54}, {'connected_gene': 'CCNE2', 'score': 0.44}]
chr8 GH08I094718 94718637 94721525 2.14 [{'connected_gene': 'DPY19L4', 'score': 556.16}, {'connected_gene': 'VIRMA', 'score': 75.65}, {'connected_gene': 'RBM12B', 'score': 50.15}, {'connected_gene': 'INTS8', 'score': 49.38}, {'connected_gene': 'C8orf37', 'score': 39.47}, {'connected_gene': 'NDUFAF6', 'score': 13.25}, {'connected_gene': 'RPL34P18', 'score': 11.26}, {'connected_gene': 'TMEM67', 'score': 10.99}, {'connected_gene': 'ENSG00000272509', 'score': 10.57}, {'connected_gene': 'ESRP1', 'score': 10.12}, {'connected_gene': 'ENSG00000253704', 'score': 9.77}, {'connected_gene': 'ENSG00000254307', 'score': 0.19}]
chr8 GH08I093871 93871911 93876513 1.33 [{'connected_gene': 'VIRMA', 'score': 31.08}, {'connected_gene': 'INTS8', 'score': 24.49}, {'connected_gene': 'RBM12B', 'score': 23.57}, {'connected_gene': 'GC08M093861', 'score': 0.39}, {'connected_gene': 'PDP1', 'score': 0.37}, {'connected_gene': 'LOC105375646', 'score': 0.29}]
chr8 GH08I094405 94405311 94406621 0.85 [{'connected_gene': 'VIRMA', 'score': 21.73}, {'connected_gene': 'INTS8', 'score': 15.16}, {'connected_gene': 'RBM12B', 'score': 10.79}, {'connected_gene': 'RAD54B', 'score': 10.51}, {'connected_gene': 'GC08P094395', 'score': 0.39}, {'connected_gene': 'ENSG00000280123', 'score': 0.34}, {'connected_gene': 'FSBP', 'score': 0.29}]
chr8 GH08I094114 94114845 94116549 0.98 [{'connected_gene': 'VIRMA', 'score': 16.05}, {'connected_gene': 'RBM12B', 'score': 14.51}, {'connected_gene': 'INTS8', 'score': 11.17}, {'connected_gene': 'ENSG00000253585', 'score': 7.36}, {'connected_gene': 'LOC105375647', 'score': 0.31}]
chr8 GH08I094521 94521727 94523565 0.75 [{'connected_gene': 'VIRMA', 'score': 11.41}, {'connected_gene': 'ENSG00000253704', 'score': 11.41}, {'connected_gene': 'RAD54B', 'score': 10.9}, {'connected_gene': 'ENSG00000254315', 'score': 0.39}]
chr8 GH08I095144 95144801 95145000 0.58 [{'connected_gene': 'VIRMA', 'score': 11.97}, {'connected_gene': 'ENSG00000254248', 'score': 11.44}, {'connected_gene': 'RNU6-1209P', 'score': 10.5}, {'connected_gene': 'INTS8', 'score': 10.05}, {'connected_gene': 'ENSG00000253878', 'score': 9.93}, {'connected_gene': 'TP53INP1', 'score': 9.93}, {'connected_gene': 'GC08P095140', 'score': 0.77}, {'connected_gene': 'PLEKHF2', 'score': 0.39}, {'connected_gene': 'C8orf37-AS1', 'score': 0.22}]
chr8 GH08I094552 94552167 94555048 2.11 [{'connected_gene': 'VIRMA', 'score': 562.1}, {'connected_gene': 'GC08M094554', 'score': 550.77}, {'connected_gene': 'LOC101926977', 'score': 550.77}, {'connected_gene': 'ENSG00000253704', 'score': 550.77}, {'connected_gene': 'RAD54B', 'score': 10.72}]
chr8 GH08I094625 94625121 94625800 0.2 [{'connected_gene': 'VIRMA', 'score': 4.63}, {'connected_gene': 'LOC100288748', 'score': 0.39}, {'connected_gene': 'ENSG00000254283', 'score': 0.29}]
chr8 GH08I094372 94372699 94373850 0.59 [{'connected_gene': 'VIRMA', 'score': 6.13}, {'connected_gene': 'RPS4XP10', 'score': 0.34}, {'connected_gene': 'GC08P094395', 'score': 0.34}, {'connected_gene': 'FSBP', 'score': 0.21}, {'connected_gene': 'RAD54B', 'score': 0.15}]
chr8 GH08I094474 94474071 94475850 2.04 [{'connected_gene': 'RAD54B', 'score': 550.77}, {'connected_gene': 'INTS8', 'score': 21.37}, {'connected_gene': 'VIRMA', 'score': 18.05}, {'connected_gene': 'RBM12B', 'score': 9.77}, {'connected_gene': 'GC08P094456', 'score': 0.37}]
chr8 GH08I094774 94774037 94774432 0.26 [{'connected_gene': 'RAD54B', 'score': 1.73}, {'connected_gene': 'VIRMA', 'score': 1.3}, {'connected_gene': 'ENSG00000254307', 'score': 0.37}, {'connected_gene': 'DPY19L4', 'score': 0.23}]
chr8 GH08I094419 94419634 94420692 0.43 [{'connected_gene': 'RAD54B', 'score': 10.74}, {'connected_gene': 'VIRMA', 'score': 6.41}, {'connected_gene': 'ENSG00000280123', 'score': 0.44}, {'connected_gene': 'FSBP', 'score': 0.37}, {'connected_gene': 'GC08P094395', 'score': 0.31}]
chr8 GH08I094407 94407366 94407757 0.31 [{'connected_gene': 'RAD54B', 'score': 10.51}, {'connected_gene': 'VIRMA', 'score': 6.03}, {'connected_gene': 'GC08P094395', 'score': 0.39}, {'connected_gene': 'ENSG00000280123', 'score': 0.34}, {'connected_gene': 'FSBP', 'score': 0.31}]
chr8 GH08I094467 94467438 94468934 1.13 [{'connected_gene': 'RAD54B', 'score': 550.44}, {'connected_gene': 'VIRMA', 'score': 6.27}, {'connected_gene': 'FSBP', 'score': 5.97}, {'connected_gene': 'GC08P094456', 'score': 0.39}]
chr8 GH08I094416 94416710 94418865 1.07 [{'connected_gene': 'RAD54B', 'score': 10.8}, {'connected_gene': 'VIRMA', 'score': 6.53}, {'connected_gene': 'ENSG00000280123', 'score': 0.39}, {'connected_gene': 'FSBP', 'score': 0.37}, {'connected_gene': 'GC08P094395', 'score': 0.34}]
chr8 GH08I094549 94549673 94549822 0.46 [{'connected_gene': 'RAD54B', 'score': 10.73}, {'connected_gene': 'VIRMA', 'score': 0.77}, {'connected_gene': 'ENSG00000254315', 'score': 0.37}]
chr8 GH08I094434 94434078 94439859 2.31 [{'connected_gene': 'RAD54B', 'score': 561.21}, {'connected_gene': 'GC08P094436', 'score': 550.77}, {'connected_gene': 'FSBP', 'score': 550.77}, {'connected_gene': 'VIRMA', 'score': 6.37}, {'connected_gene': 'ENSG00000253704', 'score': 6.34}, {'connected_gene': 'GC08M094432', 'score': 0.77}]
chr8 GH08I095267 95267856 95271238 2.12 [{'connected_gene': 'C8orf37', 'score': 563.74}, {'connected_gene': 'TRS-AGA2-5', 'score': 550.77}, {'connected_gene': 'VIRMA', 'score': 62.5}, {'connected_gene': 'INTS8', 'score': 56.34}, {'connected_gene': 'ENSG00000272509', 'score': 11.48}, {'connected_gene': 'ENSG00000253704', 'score': 10.65}, {'connected_gene': 'ENSG00000253878', 'score': 10.43}, {'connected_gene': 'MTERF3', 'score': 4.99}, {'connected_gene': 'LINC01298', 'score': 0.23}, {'connected_gene': 'C8orf37-AS1', 'score': 0.2}]
chr8 GH08I095024 95024011 95026352 2.07 [{'connected_gene': 'NDUFAF6', 'score': 550.13}, {'connected_gene': 'TP53INP1', 'score': 18.05}, {'connected_gene': 'MIR3150BHG', 'score': 14.99}, {'connected_gene': 'ENSG00000253878', 'score': 12.22}, {'connected_gene': 'VIRMA', 'score': 11.98}, {'connected_gene': 'CCNE2', 'score': 11.64}, {'connected_gene': 'RNU6-1209P', 'score': 11.12}, {'connected_gene': 'ENSG00000254307', 'score': 10.58}, {'connected_gene': 'INTS8', 'score': 10.07}, {'connected_gene': 'GC08P094978', 'score': 0.25}]
chr8 GH08I093738 93738547 93741896 2.02 [{'connected_gene': 'LOC105375645', 'score': 594.19}, {'connected_gene': 'RBM12B-AS1', 'score': 550.77}, {'connected_gene': 'RBM12B', 'score': 550.77}, {'connected_gene': 'VIRMA', 'score': 12.12}]
chr8 GH08I094360 94360156 94361508 0.31 [{'connected_gene': 'CDH17', 'score': 10.22}, {'connected_gene': 'VIRMA', 'score': 4.71}, {'connected_gene': 'RPS4XP10', 'score': 0.44}, {'connected_gene': 'GC08P094395', 'score': 0.29}]
chr8 GH08I094331 94331146 94331931 0.64 [{'connected_gene': 'CDH17', 'score': 9.61}, {'connected_gene': 'VIRMA', 'score': 5.13}, {'connected_gene': 'ENSG00000253704', 'score': 4.41}, {'connected_gene': 'PIR32209', 'score': 0.37}, {'connected_gene': 'PIR43511', 'score': 0.2}]
chr8 GH08I095071 95071409 95076910 1.68 [{'connected_gene': 'MIR3150A', 'score': 550.77}, {'connected_gene': 'MIR3150B', 'score': 550.77}, {'connected_gene': 'MIR3150BHG', 'score': 29.17}, {'connected_gene': 'INTS8', 'score': 19.16}, {'connected_gene': 'PLEKHF2', 'score': 17.24}, {'connected_gene': 'VIRMA', 'score': 16.96}, {'connected_gene': 'ENSG00000254248', 'score': 0.39}, {'connected_gene': 'NDUFAF6', 'score': 0.1}]
chr8 GH08I094638 94638217 94643511 2.33 [{'connected_gene': 'LOC100288748', 'score': 562.08}, {'connected_gene': 'ESRP1', 'score': 556.5}, {'connected_gene': 'VIRMA', 'score': 28.4}, {'connected_gene': 'INTS8', 'score': 26.94}, {'connected_gene': 'RBM12B', 'score': 20.07}, {'connected_gene': 'ENSG00000253878', 'score': 10.43}]
chr8 GH08I094352 94352608 94353888 0.46 [{'connected_gene': 'RPS4XP10', 'score': 550.77}, {'connected_gene': 'CDH17', 'score': 10.17}, {'connected_gene': 'VIRMA', 'score': 6.19}, {'connected_gene': 'GC08P094395', 'score': 0.26}]
chr8 GH08I093955 93955507 93956322 0.94 [{'connected_gene': 'RPL34P18', 'score': 550.77}, {'connected_gene': 'PIR51498', 'score': 550.77}, {'connected_gene': 'RBM12B', 'score': 21.3}, {'connected_gene': 'VIRMA', 'score': 16.43}, {'connected_gene': 'INTS8', 'score': 11.59}, {'connected_gene': 'LINC00535', 'score': 10.55}, {'connected_gene': 'FAM92A', 'score': 10.55}, {'connected_gene': 'LOC105375645', 'score': 10.36}, {'connected_gene': 'PDP1', 'score': 9.86}, {'connected_gene': 'ENSG00000253722', 'score': 9.53}, {'connected_gene': 'PSMA2P2', 'score': 0.39}]
chr8 GH08I094528 94528773 94528942 0.82 [{'connected_gene': 'ENSG00000254315', 'score': 0.77}, {'connected_gene': 'VIRMA', 'score': 0.34}, {'connected_gene': 'RAD54B', 'score': 0.23}]
chr8 GH08I094512 94512463 94513279 0.2 [{'connected_gene': 'ENSG00000254315', 'score': 12.65}, {'connected_gene': 'VIRMA', 'score': 12.58}, {'connected_gene': 'RAD54B', 'score': 11.31}]
chr8 GH08I094455 94455726 94456593 0.52 [{'connected_gene': 'GC08P094456', 'score': 550.77}, {'connected_gene': 'VIRMA', 'score': 4.96}, {'connected_gene': 'RAD54B', 'score': 0.37}]
chr8 GH08I093974 93974253 93974402 0.56 [{'connected_gene': 'ENSG00000275386', 'score': 550.77}, {'connected_gene': 'RPL34P18', 'score': 17.48}, {'connected_gene': 'VIRMA', 'score': 12.15}, {'connected_gene': 'ENSG00000253854', 'score': 11.51}, {'connected_gene': 'INTS8', 'score': 10.34}, {'connected_gene': 'TMEM67', 'score': 9.95}, {'connected_gene': 'DPY19L4', 'score': 9.72}]

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