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
ENST00000523430 [[126010738, 126010847], [126015417, 126015670], [126017766, 126017947], [126019632, 126019729], [126021212, 126021326], [126021413, 126021585], [126023778, 126023874], [126030300, 126030443], [126030872, 126030969], [126033025, 126033113], [126033994, 126034523]] [[126010841, 126010847], [126015417, 126015670], [126017766, 126017947], [126019632, 126019729], [126021212, 126021326], [126021413, 126021585], [126023778, 126023874], [126030300, 126030443], [126030872, 126030969], [126033025, 126033113], [126033994, 126034187]]
ENST00000265896 [[126010747, 126011936], [126015417, 126015670], [126017766, 126017947], [126019632, 126019729], [126021212, 126021326], [126021413, 126021585], [126023778, 126023874], [126030300, 126030443], [126030872, 126030969], [126033025, 126033113], [126033994, 126034525]] [[126011645, 126011936], [126015417, 126015670], [126017766, 126017947], [126019632, 126019729], [126021212, 126021326], [126021413, 126021585], [126023778, 126023874], [126030300, 126030443], [126030872, 126030969], [126033025, 126033113], [126033994, 126034187]]
ENST00000521232 [[126010785, 126010888], [126012141, 126012313], [126015417, 126015670], [126017766, 126017949]] [[126012196, 126012313], [126015417, 126015670], [126017766, 126017949]]
ENST00000518931 [[126021521, 126021585], [126023778, 126023874], [126030300, 126030443], [126030872, 126030969], [126033025, 126033179]] [[126021521, 126021585], [126023778, 126023874], [126030300, 126030443], [126030872, 126030969], [126033025, 126033117]]
ENST00000520493 [[126023186, 126023874], [126030300, 126030349]] None
ENST00000518604 [[126030183, 126030443], [126030872, 126031355]] None
NM_003129 [[126010719, 126011936], [126015417, 126015670], [126017766, 126017947], [126019632, 126019729], [126021212, 126021326], [126021413, 126021585], [126023778, 126023874], [126030300, 126030443], [126030872, 126030969], [126033025, 126033113], [126033994, 126034525]] [[126011645, 126011936], [126015417, 126015670], [126017766, 126017947], [126019632, 126019729], [126021212, 126021326], [126021413, 126021585], [126023778, 126023874], [126030300, 126030443], [126030872, 126030969], [126033025, 126033113], [126033994, 126034187]]
Promoter
Chrom Start End Description
chr8 126010739 126010754 CAGE_peak_1_at_SQLE_5end
chr8 126010783 126010808 CAGE_peak_2_at_SQLE_5end
chr8 126010973 126010985 CAGE_peak_4_at_SQLE_5end
chr8 126010988 126010995 CAGE_peak_5_at_SQLE_5end
chr8 126011002 126011010 CAGE_peak_6_at_SQLE_5end
chr8 126011182 126011193 CAGE_peak_14_at_SQLE_5end
chr8 126011219 126011241 CAGE_peak_11_at_SQLE_5end
chr8 126011254 126011274 CAGE_peak_10_at_SQLE_5end
chr8 126011278 126011296 CAGE_peak_8_at_SQLE_5end
chr8 126011575 126011583 CAGE_peak_3_at_SQLE_5end
chr8 126017792 126017808 CAGE_peak_15_at_SQLE_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I124814 124814245 124816310 1.25 [{'connected_gene': 'WASHC5', 'score': 28.0}, {'connected_gene': 'WASHC5-AS1', 'score': 12.77}, {'connected_gene': 'ENSG00000253106', 'score': 12.76}, {'connected_gene': 'NSMCE2', 'score': 11.49}, {'connected_gene': 'TRMT12', 'score': 11.25}, {'connected_gene': 'MTSS1', 'score': 10.73}, {'connected_gene': 'ZNF572', 'score': 10.27}, {'connected_gene': 'SQLE', 'score': 9.55}, {'connected_gene': 'LOC105375744', 'score': 9.55}, {'connected_gene': 'MIR4662A', 'score': 0.44}, {'connected_gene': 'GC08P124786', 'score': 0.31}, {'connected_gene': 'LOC105375743', 'score': 0.26}]
chr8 GH08I124583 124583783 124585092 0.52 [{'connected_gene': 'MTSS1', 'score': 11.46}, {'connected_gene': 'TATDN1', 'score': 11.18}, {'connected_gene': 'NDUFB9', 'score': 11.17}, {'connected_gene': 'SQLE', 'score': 10.49}, {'connected_gene': 'LOC105375744', 'score': 10.49}, {'connected_gene': 'ZNF572', 'score': 10.21}, {'connected_gene': 'TRMT12', 'score': 6.88}, {'connected_gene': 'LOC105375740', 'score': 5.19}, {'connected_gene': 'GC08P124592', 'score': 0.44}]
chr8 GH08I124626 124626120 124632249 1.77 [{'connected_gene': 'MTSS1', 'score': 14.05}, {'connected_gene': 'SQLE', 'score': 10.37}, {'connected_gene': 'LOC105375744', 'score': 10.37}, {'connected_gene': 'NSMCE2', 'score': 7.03}, {'connected_gene': 'TRMT12', 'score': 4.58}, {'connected_gene': 'RNF139', 'score': 3.34}, {'connected_gene': 'WASHC5', 'score': 3.12}, {'connected_gene': 'ZNF572', 'score': 1.95}, {'connected_gene': 'GC08P124592', 'score': 0.28}, {'connected_gene': 'GC08P124718', 'score': 0.17}]
chr8 GH08I124586 124586220 124586369 0.58 [{'connected_gene': 'MTSS1', 'score': 11.46}, {'connected_gene': 'NDUFB9', 'score': 11.17}, {'connected_gene': 'TATDN1', 'score': 11.17}, {'connected_gene': 'SQLE', 'score': 10.49}, {'connected_gene': 'LOC105375744', 'score': 10.49}, {'connected_gene': 'ZNF572', 'score': 10.21}, {'connected_gene': 'GC08P124592', 'score': 0.44}, {'connected_gene': 'LOC105375740', 'score': 0.37}]
chr8 GH08I124585 124585900 124586089 0.72 [{'connected_gene': 'MTSS1', 'score': 11.46}, {'connected_gene': 'NDUFB9', 'score': 11.17}, {'connected_gene': 'TATDN1', 'score': 11.17}, {'connected_gene': 'SQLE', 'score': 10.49}, {'connected_gene': 'LOC105375744', 'score': 10.49}, {'connected_gene': 'ZNF572', 'score': 10.21}, {'connected_gene': 'GC08P124592', 'score': 0.44}, {'connected_gene': 'LOC105375740', 'score': 0.37}]
chr8 GH08I124817 124817099 124817737 0.59 [{'connected_gene': 'MTSS1', 'score': 10.73}, {'connected_gene': 'ZNF572', 'score': 10.27}, {'connected_gene': 'SQLE', 'score': 9.22}, {'connected_gene': 'LOC105375744', 'score': 9.22}, {'connected_gene': 'MIR4662A', 'score': 0.77}, {'connected_gene': 'GC08P124786', 'score': 0.29}, {'connected_gene': 'LOC105375743', 'score': 0.26}]
chr8 GH08I124592 124592782 124597040 1.51 [{'connected_gene': 'MTSS1', 'score': 13.44}, {'connected_gene': 'ZNF572', 'score': 12.27}, {'connected_gene': 'NDUFB9', 'score': 10.87}, {'connected_gene': 'TATDN1', 'score': 10.87}, {'connected_gene': 'SQLE', 'score': 10.33}, {'connected_gene': 'LOC105375744', 'score': 10.33}, {'connected_gene': 'TRMT12', 'score': 6.38}, {'connected_gene': 'NSMCE2', 'score': 3.12}, {'connected_gene': 'RNF139', 'score': 1.78}, {'connected_gene': 'WASHC5', 'score': 1.29}, {'connected_gene': 'GC08P124592', 'score': 0.77}, {'connected_gene': 'GC08P124718', 'score': 0.13}]
chr8 GH08I124562 124562135 124566412 1.07 [{'connected_gene': 'TATDN1', 'score': 11.54}, {'connected_gene': 'NDUFB9', 'score': 11.52}, {'connected_gene': 'MTSS1', 'score': 11.28}, {'connected_gene': 'SQLE', 'score': 9.9}, {'connected_gene': 'LOC105375744', 'score': 9.9}, {'connected_gene': 'TRMT12', 'score': 8.53}, {'connected_gene': 'LOC105375740', 'score': 5.15}]
chr8 GH08I124996 124996795 125002127 2.02 [{'connected_gene': 'SQLE', 'score': 550.77}, {'connected_gene': 'LOC105375744', 'score': 550.77}, {'connected_gene': 'TRMT12', 'score': 14.95}, {'connected_gene': 'RNF139', 'score': 14.4}, {'connected_gene': 'LOC105375740', 'score': 11.81}, {'connected_gene': 'RNF139-AS1', 'score': 11.06}, {'connected_gene': 'LINC00964', 'score': 8.64}, {'connected_gene': 'TATDN1', 'score': 4.39}, {'connected_gene': 'GC08P125034', 'score': 0.28}]
chr8 GH08I124953 124953819 124953988 0.64 [{'connected_gene': 'SQLE', 'score': 10.93}, {'connected_gene': 'LOC105375744', 'score': 10.93}, {'connected_gene': 'PIR52062', 'score': 0.77}, {'connected_gene': 'PIR57426', 'score': 0.44}, {'connected_gene': 'GC08P124985', 'score': 0.44}, {'connected_gene': 'ZNF572', 'score': 0.14}, {'connected_gene': 'LINC00964', 'score': 0.14}]
chr8 GH08I125055 125055466 125056279 0.38 [{'connected_gene': 'SQLE', 'score': 11.09}, {'connected_gene': 'LOC105375744', 'score': 11.09}, {'connected_gene': 'WASHC5-AS1', 'score': 0.37}, {'connected_gene': 'WASHC5', 'score': 0.28}, {'connected_gene': 'NSMCE2', 'score': 0.28}]
chr8 GH08I124804 124804874 124807318 0.31 [{'connected_gene': 'SQLE', 'score': 9.66}, {'connected_gene': 'LOC105375744', 'score': 9.66}, {'connected_gene': 'MIR4662A', 'score': 0.37}, {'connected_gene': 'GC08P124786', 'score': 0.37}]
chr8 GH08I124808 124808748 124809954 0.38 [{'connected_gene': 'SQLE', 'score': 9.66}, {'connected_gene': 'LOC105375744', 'score': 9.66}, {'connected_gene': 'MIR4662A', 'score': 0.39}, {'connected_gene': 'GC08P124786', 'score': 0.34}]
chr8 GH08I124573 124573047 124574957 0.93 [{'connected_gene': 'NDUFB9', 'score': 11.5}, {'connected_gene': 'TATDN1', 'score': 11.5}, {'connected_gene': 'MTSS1', 'score': 11.48}, {'connected_gene': 'TRMT12', 'score': 10.84}, {'connected_gene': 'SQLE', 'score': 10.26}, {'connected_gene': 'LOC105375744', 'score': 10.26}, {'connected_gene': 'LOC105375740', 'score': 0.44}, {'connected_gene': 'GC08P124592', 'score': 0.37}]
chr8 GH08I125029 125029351 125033304 0.38 [{'connected_gene': 'LINC00964', 'score': 6.36}, {'connected_gene': 'GC08P125034', 'score': 0.77}, {'connected_gene': 'SQLE', 'score': 0.29}, {'connected_gene': 'WASHC5', 'score': 0.21}]
chr8 GH08I125069 125069122 125072223 0.71 [{'connected_gene': 'LINC00964', 'score': 12.1}, {'connected_gene': 'WASHC5-AS1', 'score': 11.66}, {'connected_gene': 'WASHC5', 'score': 11.34}, {'connected_gene': 'NSMCE2', 'score': 11.34}, {'connected_gene': 'SQLE', 'score': 11.33}, {'connected_gene': 'LOC105375744', 'score': 11.33}]
chr8 GH08I125003 125003201 125003800 0.63 [{'connected_gene': 'ZNF572', 'score': 10.49}, {'connected_gene': 'WASHC5', 'score': 10.38}, {'connected_gene': 'NSMCE2', 'score': 10.38}, {'connected_gene': 'SQLE', 'score': 0.44}, {'connected_gene': 'GC08P125034', 'score': 0.29}]
chr8 GH08I124846 124846519 124849667 1.37 [{'connected_gene': 'ZNF572', 'score': 550.77}, {'connected_gene': 'LINC00964', 'score': 550.77}, {'connected_gene': 'MTSS1', 'score': 33.0}, {'connected_gene': 'SQLE', 'score': 9.76}, {'connected_gene': 'LOC105375744', 'score': 9.76}, {'connected_gene': 'LOC105375743', 'score': 0.44}, {'connected_gene': 'MIR4662B', 'score': 0.31}]
chr8 GH08I125066 125066819 125066968 0.57 [{'connected_gene': 'WASHC5-AS1', 'score': 12.15}, {'connected_gene': 'WASHC5', 'score': 11.24}, {'connected_gene': 'NSMCE2', 'score': 11.24}, {'connected_gene': 'SQLE', 'score': 11.06}, {'connected_gene': 'LOC105375744', 'score': 11.06}]
chr8 GH08I125024 125024319 125024648 0.31 [{'connected_gene': 'GC08P125034', 'score': 0.39}, {'connected_gene': 'SQLE', 'score': 0.31}, {'connected_gene': 'WASHC5', 'score': 0.2}]
chr8 GH08I125025 125025423 125025779 0.22 [{'connected_gene': 'GC08P125034', 'score': 0.44}, {'connected_gene': 'SQLE', 'score': 0.31}, {'connected_gene': 'WASHC5', 'score': 0.2}]
chr8 GH08I124963 124963544 124964975 0.49 [{'connected_gene': 'PIR40025', 'score': 550.77}, {'connected_gene': 'SQLE', 'score': 11.28}, {'connected_gene': 'LOC105375744', 'score': 11.28}, {'connected_gene': 'TATDN1', 'score': 9.59}, {'connected_gene': 'NDUFB9', 'score': 9.58}, {'connected_gene': 'PIR59755', 'score': 0.39}, {'connected_gene': 'ZNF572', 'score': 0.13}]
chr8 GH08I124961 124961667 124962814 0.63 [{'connected_gene': 'PIR40025', 'score': 550.77}, {'connected_gene': 'SQLE', 'score': 11.26}, {'connected_gene': 'LOC105375744', 'score': 11.26}, {'connected_gene': 'NDUFB9', 'score': 9.59}, {'connected_gene': 'TATDN1', 'score': 9.59}, {'connected_gene': 'LINC00964', 'score': 8.3}, {'connected_gene': 'PIR52062', 'score': 0.77}, {'connected_gene': 'ZNF572', 'score': 0.14}]
chr8 GH08I124955 124955912 124956868 0.94 [{'connected_gene': 'PIR52062', 'score': 550.77}, {'connected_gene': 'LINC00964', 'score': 38.69}, {'connected_gene': 'SQLE', 'score': 10.93}, {'connected_gene': 'LOC105375744', 'score': 10.93}, {'connected_gene': 'PIR57426', 'score': 0.39}, {'connected_gene': 'GC08P124985', 'score': 0.39}, {'connected_gene': 'ZNF572', 'score': 0.14}]
chr8 GH08I124920 124920759 124921866 0.84 [{'connected_gene': 'PIR35273', 'score': 550.77}, {'connected_gene': 'PIR52596', 'score': 550.77}, {'connected_gene': 'GC08M126656', 'score': 550.77}, {'connected_gene': 'PIR33635', 'score': 550.77}, {'connected_gene': 'PIR38312', 'score': 550.77}, {'connected_gene': 'PIR39494', 'score': 550.77}, {'connected_gene': 'MRS2P1', 'score': 550.77}, {'connected_gene': 'GC08M126697', 'score': 550.77}, {'connected_gene': 'PIR51954', 'score': 550.77}, {'connected_gene': 'PIR40291', 'score': 550.77}, {'connected_gene': 'PIR59925', 'score': 550.77}, {'connected_gene': 'PIR34143', 'score': 550.77}, {'connected_gene': 'GC08M126652', 'score': 550.77}, {'connected_gene': 'PIR40852', 'score': 550.77}, {'connected_gene': 'GC08M126664', 'score': 550.77}, {'connected_gene': 'GC08M126655', 'score': 550.77}, {'connected_gene': 'PIR61119', 'score': 550.77}, {'connected_gene': 'GC08M126852', 'score': 550.77}, {'connected_gene': 'GC08M126855', 'score': 550.77}, {'connected_gene': 'PIR33211', 'score': 550.77}, {'connected_gene': 'GC08M126834', 'score': 550.77}, {'connected_gene': 'PIR40403', 'score': 550.77}, {'connected_gene': 'GC08M126837', 'score': 550.77}, {'connected_gene': 'PIR37676', 'score': 550.77}, {'connected_gene': 'PIR41551', 'score': 550.77}, {'connected_gene': 'GC08M126663', 'score': 550.77}, {'connected_gene': 'GC08M126822', 'score': 550.77}, {'connected_gene': 'PIR59060', 'score': 550.77}, {'connected_gene': 'GC08M126653', 'score': 550.77}, {'connected_gene': 'GC08M126781', 'score': 550.77}, {'connected_gene': 'PIR54296', 'score': 550.77}, {'connected_gene': 'GC08M126675', 'score': 550.77}, {'connected_gene': 'PIR55713', 'score': 550.77}, {'connected_gene': 'GC08M126821', 'score': 550.77}, {'connected_gene': 'GC08M126668', 'score': 550.77}, {'connected_gene': 'GC08M126828', 'score': 550.77}, {'connected_gene': 'PIR41425', 'score': 550.77}, {'connected_gene': 'PIR32908', 'score': 550.77}, {'connected_gene': 'PIR52371', 'score': 550.77}, {'connected_gene': 'GC08M126662', 'score': 550.77}, {'connected_gene': 'PIR61512', 'score': 550.77}, {'connected_gene': 'PIR35610', 'score': 550.77}, {'connected_gene': 'MTSS1', 'score': 10.64}, {'connected_gene': 'SQLE', 'score': 10.46}, {'connected_gene': 'LOC105375744', 'score': 10.46}, {'connected_gene': 'LINC00964', 'score': 5.97}, {'connected_gene': 'PIRC35', 'score': 0.31}, {'connected_gene': 'ZNF572', 'score': 0.19}]

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