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
ENST00000522532 [[125551380, 125551528], [125555327, 125555520], [125559240, 125559354], [125579887, 125580751]] [[125551427, 125551528], [125555327, 125555520], [125559240, 125559354], [125579887, 125580145]]
ENST00000276689 [[125551343, 125551528], [125555327, 125555520], [125559240, 125559354], [125562001, 125562220]] [[125551427, 125551528], [125555327, 125555520], [125559240, 125559354], [125562001, 125562133]]
ENST00000518008 [[125551371, 125551528], [125555327, 125555520], [125559240, 125559679]] [[125551427, 125551528], [125555327, 125555520], [125559240, 125559483]]
ENST00000517367 [[125551384, 125551528], [125555360, 125555520], [125559240, 125559354], [125562001, 125562219]] [[125551427, 125551528], [125555360, 125555520], [125559240, 125559354], [125562001, 125562133]]
ENST00000518657 [[125555180, 125555520], [125559240, 125559354], [125562001, 125562219]] None
ENST00000524241 [[125558918, 125559354], [125562001, 125562219]] None
ENST00000517830 [[125562014, 125562074], [125562684, 125562742], [125564357, 125564559]] None
NM_001278645 [[125551342, 125551528], [125555362, 125555520], [125559240, 125559354], [125562001, 125562227]] [[125555394, 125555520], [125559240, 125559354], [125562001, 125562133]]
NM_001311168 [[125551342, 125551528], [125555360, 125555520], [125559240, 125559354], [125562001, 125562227]] [[125551427, 125551528], [125555360, 125555520], [125559240, 125559354], [125562001, 125562133]]
NM_001278646 [[125551342, 125551528], [125555329, 125555520], [125559240, 125559354], [125562001, 125562227]] [[125555355, 125555520], [125559240, 125559354], [125562001, 125562133]]
NM_005005 [[125551342, 125551528], [125555327, 125555520], [125559240, 125559354], [125562001, 125562227]] [[125551427, 125551528], [125555327, 125555520], [125559240, 125559354], [125562001, 125562133]]
Promoter
Chrom Start End Description
chr8 125551338 125551425 CAGE_peak_1_at_NDUFB9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 GH08I124614 124614172 124615964 0.49 [{'connected_gene': 'MTSS1', 'score': 11.33}, {'connected_gene': 'NDUFB9', 'score': 10.05}, {'connected_gene': 'TATDN1', 'score': 10.05}, {'connected_gene': 'TRMT12', 'score': 6.04}, {'connected_gene': 'GC08P124592', 'score': 0.34}, {'connected_gene': 'GC08P124718', 'score': 0.15}]
chr8 GH08I124611 124611895 124613623 0.99 [{'connected_gene': 'MTSS1', 'score': 16.98}, {'connected_gene': 'NDUFB9', 'score': 10.32}, {'connected_gene': 'TATDN1', 'score': 10.32}, {'connected_gene': 'TRMT12', 'score': 5.18}, {'connected_gene': 'GC08P124592', 'score': 0.34}, {'connected_gene': 'GC08P124718', 'score': 0.14}]
chr8 GH08I124616 124616452 124621600 1.25 [{'connected_gene': 'MTSS1', 'score': 16.7}, {'connected_gene': 'NDUFB9', 'score': 10.05}, {'connected_gene': 'TATDN1', 'score': 10.05}, {'connected_gene': 'TRMT12', 'score': 6.03}, {'connected_gene': 'GC08P124592', 'score': 0.31}, {'connected_gene': 'GC08P124718', 'score': 0.15}]
chr8 GH08I124684 124684580 124684729 1.01 [{'connected_gene': 'MTSS1', 'score': 12.4}, {'connected_gene': 'NDUFB9', 'score': 9.89}, {'connected_gene': 'TATDN1', 'score': 9.89}, {'connected_gene': 'GC08P124718', 'score': 0.29}, {'connected_gene': 'GC08P124592', 'score': 0.16}]
chr8 GH08I124613 124613801 124614000 0.72 [{'connected_gene': 'MTSS1', 'score': 11.33}, {'connected_gene': 'NDUFB9', 'score': 10.06}, {'connected_gene': 'TATDN1', 'score': 10.06}, {'connected_gene': 'GC08P124592', 'score': 0.34}, {'connected_gene': 'GC08P124718', 'score': 0.15}]
chr8 GH08I124705 124705371 124707317 0.31 [{'connected_gene': 'MTSS1', 'score': 12.66}, {'connected_gene': 'NDUFB9', 'score': 9.54}, {'connected_gene': 'TATDN1', 'score': 9.54}, {'connected_gene': 'GC08P124718', 'score': 0.39}, {'connected_gene': 'GC08P124592', 'score': 0.14}]
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 GH08I124523 124523278 124523337 0.5 [{'connected_gene': 'TATDN1', 'score': 550.37}, {'connected_gene': 'MIR6844', 'score': 0.39}, {'connected_gene': 'NDUFB9', 'score': 0.37}, {'connected_gene': 'GC08P124382', 'score': 0.11}]
chr8 GH08I124355 124355487 124355809 0.44 [{'connected_gene': 'TRMT12', 'score': 2.38}, {'connected_gene': 'TATDN1', 'score': 2.23}, {'connected_gene': 'NDUFB9', 'score': 2.19}, {'connected_gene': 'TMEM65', 'score': 0.37}, {'connected_gene': 'GC08M124331', 'score': 0.37}]
chr8 GH08I124491 124491048 124493032 0.93 [{'connected_gene': 'TRMT12', 'score': 51.12}, {'connected_gene': 'NDUFB9', 'score': 10.79}, {'connected_gene': 'TATDN1', 'score': 10.79}, {'connected_gene': 'ENSG00000253106', 'score': 10.46}, {'connected_gene': 'MIR6844', 'score': 0.37}, {'connected_gene': 'GC08P124382', 'score': 0.14}]
chr8 GH08I124524 124524939 124529577 1.42 [{'connected_gene': 'TRMT12', 'score': 41.91}, {'connected_gene': 'RNF139', 'score': 1.36}, {'connected_gene': 'NDUFB9', 'score': 0.39}, {'connected_gene': 'TATDN1', 'score': 0.39}, {'connected_gene': 'MIR6844', 'score': 0.37}, {'connected_gene': 'GC08P124382', 'score': 0.11}]
chr8 GH08I124530 124530568 124531700 0.64 [{'connected_gene': 'TRMT12', 'score': 11.97}, {'connected_gene': 'LOC105375740', 'score': 5.61}, {'connected_gene': 'NDUFB9', 'score': 0.44}, {'connected_gene': 'TATDN1', 'score': 0.44}, {'connected_gene': 'MIR6844', 'score': 0.34}, {'connected_gene': 'GC08P124382', 'score': 0.11}]
chr8 GH08I124544 124544801 124546181 0.58 [{'connected_gene': 'TRMT12', 'score': 41.98}, {'connected_gene': 'LOC105375740', 'score': 5.88}, {'connected_gene': 'NDUFB9', 'score': 0.44}, {'connected_gene': 'TATDN1', 'score': 0.44}]
chr8 GH08I124720 124720028 124721300 1.29 [{'connected_gene': 'NDUFB9', 'score': 5.41}, {'connected_gene': 'MTSS1', 'score': 5.27}, {'connected_gene': 'GC08P124718', 'score': 0.77}]
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 GH08I124579 124579471 124579915 0.43 [{'connected_gene': 'NDUFB9', 'score': 11.09}, {'connected_gene': 'TATDN1', 'score': 11.09}, {'connected_gene': 'MTSS1', 'score': 10.26}, {'connected_gene': 'LOC105375740', 'score': 0.39}, {'connected_gene': 'GC08P124592', 'score': 0.39}]
chr8 GH08I124537 124537283 124540516 2.07 [{'connected_gene': 'NDUFB9', 'score': 550.77}, {'connected_gene': 'TATDN1', 'score': 550.77}, {'connected_gene': 'TRMT12', 'score': 43.01}, {'connected_gene': 'FAM91A1', 'score': 30.23}, {'connected_gene': 'WASHC5', 'score': 20.18}, {'connected_gene': 'WASHC5-AS1', 'score': 10.4}, {'connected_gene': 'RNF139', 'score': 10.32}, {'connected_gene': 'RNF139-AS1', 'score': 10.32}, {'connected_gene': 'LOC105375740', 'score': 5.86}, {'connected_gene': 'MIR6844', 'score': 0.29}, {'connected_gene': 'GC08P124382', 'score': 0.1}]
chr8 GH08I124685 124685163 124690874 1.37 [{'connected_gene': 'FAM91A1', 'score': 31.49}, {'connected_gene': 'WASHC5-AS1', 'score': 31.23}, {'connected_gene': 'ZNF572', 'score': 19.78}, {'connected_gene': 'TRMT12', 'score': 14.77}, {'connected_gene': 'MTSS1', 'score': 12.4}, {'connected_gene': 'WASHC5', 'score': 11.99}, {'connected_gene': 'RNF139', 'score': 11.15}, {'connected_gene': 'NDUFB9', 'score': 9.89}, {'connected_gene': 'TATDN1', 'score': 9.89}, {'connected_gene': 'GC08P124718', 'score': 0.29}, {'connected_gene': 'GC08P124592', 'score': 0.15}]
chr8 GH08I124708 124708256 124711826 1.43 [{'connected_gene': 'ZNF572', 'score': 10.67}, {'connected_gene': 'NDUFB9', 'score': 9.53}, {'connected_gene': 'TATDN1', 'score': 9.53}, {'connected_gene': 'NSMCE2', 'score': 8.12}, {'connected_gene': 'MTSS1', 'score': 3.77}, {'connected_gene': 'WASHC5', 'score': 2.69}, {'connected_gene': 'RNF139', 'score': 2.61}, {'connected_gene': 'GC08P124718', 'score': 0.44}, {'connected_gene': 'GC08P124592', 'score': 0.13}]
chr8 GH08I124561 124561920 124562069 0.56 [{'connected_gene': 'LOC105375740', 'score': 0.44}, {'connected_gene': 'NDUFB9', 'score': 0.34}, {'connected_gene': 'TATDN1', 'score': 0.34}, {'connected_gene': 'MTSS1', 'score': 0.1}]
chr8 GH08I124556 124556600 124556749 0.38 [{'connected_gene': 'LOC105375740', 'score': 0.39}, {'connected_gene': 'NDUFB9', 'score': 0.37}, {'connected_gene': 'TATDN1', 'score': 0.37}, {'connected_gene': 'MTSS1', 'score': 0.09}]
chr8 GH08I124509 124509665 124511485 0.31 [{'connected_gene': 'MIR6844', 'score': 550.77}, {'connected_gene': 'TRMT12', 'score': 45.58}, {'connected_gene': 'ENSG00000253106', 'score': 12.02}, {'connected_gene': 'RNF139', 'score': 11.26}, {'connected_gene': 'RNF139-AS1', 'score': 11.26}, {'connected_gene': 'NDUFB9', 'score': 11.2}, {'connected_gene': 'TATDN1', 'score': 11.2}, {'connected_gene': 'LOC105375740', 'score': 5.79}, {'connected_gene': 'GC08P124382', 'score': 0.13}]
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}]

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