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
ENST00000432398 [[130064358, 130064824], [130092453, 130092548], [130095079, 130095679], [130098260, 130098893], [130103646, 130104207], [130107422, 130107977], [130110021, 130110597], [130113732, 130114308], [130116426, 130116767], [130116873, 130116955], [130119874, 130120017], [130120605, 130120698], [130122452, 130122506], [130124431, 130124503], [130124836, 130124863], [130124974, 130125019], [130125111, 130125165], [130128169, 130128232], [130128852, 130128918], [130129314, 130129368], [130132388, 130132424], [130132912, 130132975], [130134488, 130134551], [130135600, 130135663], [130137712, 130137775], [130139996, 130140047], [130140168, 130140204], [130141563, 130141626], [130142681, 130142744], [130145057, 130145093], [130145210, 130145247], [130150138, 130150145], [130150303, 130150793], [130158365, 130158459], [130159009, 130159669], [130162319, 130162410], [130174298, 130174510], [130187638, 130188325], [130189714, 130189811], [130202878, 130203688]] [[130092481, 130092548], [130095079, 130095679], [130098260, 130098893], [130103646, 130104207], [130107422, 130107977], [130110021, 130110597], [130113732, 130114308], [130116426, 130116767], [130116873, 130116955], [130119874, 130120017], [130120605, 130120698], [130122452, 130122506], [130124431, 130124503], [130124836, 130124863], [130124974, 130125019], [130125111, 130125165], [130128169, 130128232], [130128852, 130128918], [130129314, 130129368], [130132388, 130132424], [130132912, 130132975], [130134488, 130134551], [130135600, 130135663], [130137712, 130137775], [130139996, 130140047], [130140168, 130140204], [130141563, 130141626], [130142681, 130142744], [130145057, 130145093], [130145210, 130145247], [130150138, 130150145], [130150303, 130150793], [130158365, 130158459], [130159009, 130159669], [130162319, 130162410], [130174298, 130174510], [130187638, 130188325], [130189714, 130189811], [130202878, 130202885]]
ENST00000265379 [[130064358, 130064824], [130092453, 130092548], [130095079, 130095679], [130098260, 130098893], [130103646, 130104207], [130107422, 130107977], [130110021, 130110597], [130113732, 130114308], [130116426, 130116767], [130116873, 130116955], [130119874, 130120017], [130120605, 130120698], [130122452, 130122506], [130124431, 130124503], [130124836, 130124863], [130124974, 130125019], [130125111, 130125165], [130128169, 130128232], [130128852, 130128918], [130129314, 130129368], [130132388, 130132424], [130132912, 130132975], [130134488, 130134551], [130135600, 130135663], [130137712, 130137775], [130139996, 130140047], [130140168, 130140204], [130141563, 130141626], [130142681, 130142744], [130145057, 130145093], [130145210, 130145247], [130150138, 130150145], [130150303, 130150793], [130158365, 130158459], [130159009, 130159669], [130162319, 130162410], [130174298, 130174510], [130187638, 130188325], [130189714, 130189811], [130190525, 130190770], [130195880, 130195983], [130202878, 130203688]] [[130092481, 130092548], [130095079, 130095679], [130098260, 130098893], [130103646, 130104207], [130107422, 130107977], [130110021, 130110597], [130113732, 130114308], [130116426, 130116767], [130116873, 130116955], [130119874, 130120017], [130120605, 130120698], [130122452, 130122506], [130124431, 130124503], [130124836, 130124863], [130124974, 130125019], [130125111, 130125165], [130128169, 130128232], [130128852, 130128918], [130129314, 130129368], [130132388, 130132424], [130132912, 130132975], [130134488, 130134551], [130135600, 130135663], [130137712, 130137775], [130139996, 130140047], [130140168, 130140204], [130141563, 130141626], [130142681, 130142744], [130145057, 130145093], [130145210, 130145247], [130150138, 130150145], [130150303, 130150793], [130158365, 130158459], [130159009, 130159669], [130162319, 130162410], [130174298, 130174510], [130187638, 130188325], [130189714, 130189811], [130190525, 130190770], [130195880, 130195909]]
ENST00000312481 [[130064358, 130064824], [130092453, 130092548], [130095079, 130095679], [130098260, 130098893], [130103646, 130104207], [130107422, 130107977], [130110021, 130110597], [130113732, 130114308], [130116426, 130116767], [130116873, 130116955], [130119874, 130120017], [130120605, 130120698], [130122452, 130122506], [130124431, 130124503], [130124836, 130124863], [130124974, 130125019], [130125111, 130125165], [130128169, 130128232], [130128852, 130128918], [130129314, 130129368], [130132388, 130132424], [130132912, 130132975], [130134488, 130134551], [130135600, 130135663], [130137712, 130137775], [130139996, 130140047], [130140168, 130140204], [130141563, 130141626], [130142681, 130142744], [130145057, 130145093], [130145210, 130145247], [130148416, 130148428], [130150308, 130150793], [130158365, 130158459], [130159009, 130159669], [130162319, 130162410], [130174298, 130174510], [130187638, 130188325], [130189714, 130189811], [130190525, 130190770], [130195880, 130195983], [130202878, 130203688]] [[130092481, 130092548], [130095079, 130095679], [130098260, 130098893], [130103646, 130104207], [130107422, 130107977], [130110021, 130110597], [130113732, 130114308], [130116426, 130116767], [130116873, 130116955], [130119874, 130120017], [130120605, 130120698], [130122452, 130122506], [130124431, 130124503], [130124836, 130124863], [130124974, 130125019], [130125111, 130125165], [130128169, 130128232], [130128852, 130128918], [130129314, 130129368], [130132388, 130132424], [130132912, 130132975], [130134488, 130134551], [130135600, 130135663], [130137712, 130137775], [130139996, 130140047], [130140168, 130140204], [130141563, 130141626], [130142681, 130142744], [130145057, 130145093], [130145210, 130145247], [130148416, 130148428], [130150308, 130150793], [130158365, 130158459], [130159009, 130159669], [130162319, 130162410], [130174298, 130174510], [130187638, 130188325], [130189714, 130189811], [130190525, 130190770], [130195880, 130195909]]
ENST00000512836 [[130150306, 130150793], [130158365, 130158459], [130159009, 130159669], [130162319, 130162410], [130174298, 130174510], [130187638, 130188325], [130189714, 130189811], [130202878, 130203688]] [[130150306, 130150793], [130158365, 130158459], [130159009, 130159669], [130162319, 130162410], [130174298, 130174510], [130187638, 130188325], [130189714, 130189811], [130202878, 130202885]]
ENST00000373157 [[130159353, 130159669], [130162319, 130162410], [130174298, 130174510], [130187638, 130188325], [130189714, 130189811], [130190525, 130190770], [130202878, 130203000]] [[130159353, 130159669], [130162319, 130162410], [130174298, 130174510], [130187638, 130188325], [130189714, 130189811], [130190525, 130190770], [130202878, 130202904]]
ENST00000512482 [[130162327, 130162410], [130174298, 130174510], [130187638, 130188325], [130189714, 130189811], [130190525, 130190770], [130195726, 130196182]] [[130162327, 130162410], [130174298, 130174510], [130187638, 130188325], [130189714, 130189811], [130190525, 130190770], [130195726, 130195734]]
NM_153264 [[130064358, 130064824], [130092453, 130092548], [130095079, 130095679], [130098260, 130098893], [130103646, 130104207], [130107422, 130107977], [130110021, 130110597], [130113732, 130114308], [130116426, 130116767], [130116873, 130116955], [130119874, 130120017], [130120605, 130120698], [130122452, 130122506], [130124431, 130124503], [130124836, 130124863], [130124974, 130125019], [130125111, 130125165], [130128169, 130128232], [130128852, 130128918], [130129314, 130129368], [130132388, 130132424], [130132912, 130132975], [130134488, 130134551], [130135600, 130135663], [130137712, 130137775], [130139996, 130140047], [130140168, 130140204], [130141563, 130141626], [130142681, 130142744], [130145057, 130145093], [130145210, 130145247], [130148416, 130148428], [130150308, 130150793], [130158365, 130158459], [130159009, 130159669], [130162319, 130162410], [130174298, 130174510], [130187638, 130188325], [130189714, 130189811], [130202878, 130203690]] [[130092481, 130092548], [130095079, 130095679], [130098260, 130098893], [130103646, 130104207], [130107422, 130107977], [130110021, 130110597], [130113732, 130114308], [130116426, 130116767], [130116873, 130116955], [130119874, 130120017], [130120605, 130120698], [130122452, 130122506], [130124431, 130124503], [130124836, 130124863], [130124974, 130125019], [130125111, 130125165], [130128169, 130128232], [130128852, 130128918], [130129314, 130129368], [130132388, 130132424], [130132912, 130132975], [130134488, 130134551], [130135600, 130135663], [130137712, 130137775], [130139996, 130140047], [130140168, 130140204], [130141563, 130141626], [130142681, 130142744], [130145057, 130145093], [130145210, 130145247], [130148416, 130148428], [130150308, 130150793], [130158365, 130158459], [130159009, 130159669], [130162319, 130162410], [130174298, 130174510], [130187638, 130188325], [130189714, 130189811], [130202878, 130202885]]
NM_001278298 [[130064358, 130064824], [130092453, 130092548], [130095079, 130095679], [130098260, 130098893], [130103646, 130104207], [130107422, 130107977], [130110021, 130110597], [130113732, 130114308], [130116426, 130116767], [130116873, 130116955], [130119874, 130120017], [130120605, 130120698], [130122452, 130122506], [130124431, 130124503], [130124836, 130124863], [130124974, 130125019], [130125111, 130125165], [130128169, 130128232], [130128852, 130128918], [130129314, 130129368], [130132388, 130132424], [130132912, 130132975], [130134488, 130134551], [130135600, 130135663], [130137712, 130137775], [130139996, 130140047], [130140168, 130140204], [130141563, 130141626], [130142681, 130142744], [130145057, 130145093], [130145210, 130145247], [130148416, 130148428], [130150308, 130150793], [130158365, 130158459], [130159009, 130159669], [130162319, 130162410], [130174298, 130174510], [130187638, 130188325], [130189714, 130189811], [130190525, 130190770], [130202878, 130203690]] [[130092481, 130092548], [130095079, 130095679], [130098260, 130098893], [130103646, 130104207], [130107422, 130107977], [130110021, 130110597], [130113732, 130114308], [130116426, 130116767], [130116873, 130116955], [130119874, 130120017], [130120605, 130120698], [130122452, 130122506], [130124431, 130124503], [130124836, 130124863], [130124974, 130125019], [130125111, 130125165], [130128169, 130128232], [130128852, 130128918], [130129314, 130129368], [130132388, 130132424], [130132912, 130132975], [130134488, 130134551], [130135600, 130135663], [130137712, 130137775], [130139996, 130140047], [130140168, 130140204], [130141563, 130141626], [130142681, 130142744], [130145057, 130145093], [130145210, 130145247], [130148416, 130148428], [130150308, 130150793], [130158365, 130158459], [130159009, 130159669], [130162319, 130162410], [130174298, 130174510], [130187638, 130188325], [130189714, 130189811], [130190525, 130190770], [130202878, 130202904]]
NR_022012 [[130064358, 130064824], [130092453, 130092548], [130095079, 130095679], [130098260, 130098893], [130103646, 130104207], [130107422, 130107977], [130110021, 130110597], [130113732, 130114308], [130116426, 130116767], [130116873, 130116955], [130119874, 130120017], [130120605, 130120698], [130122452, 130122506], [130124431, 130124503], [130124836, 130124863], [130124974, 130125019], [130125111, 130125165], [130128169, 130128232], [130128852, 130128918], [130129314, 130129368], [130132388, 130132424], [130132912, 130132975], [130134488, 130134551], [130135600, 130135663], [130137712, 130137775], [130139996, 130140047], [130140168, 130140204], [130141563, 130141626], [130142681, 130142744], [130145057, 130145093], [130145210, 130145247], [130148416, 130148428], [130150308, 130150793], [130158365, 130158459], [130159009, 130159669], [130162319, 130162410], [130174298, 130174510], [130187638, 130188325], [130189714, 130189811], [130190525, 130190770], [130195880, 130195983], [130202878, 130203690]] None
Promoter
Chrom Start End Description
chr3 130064510 130064521 CAGE_peak_1_at_COL6A5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I130354 130354287 130354985 0.76 [{'connected_gene': 'ATP2C1', 'score': 1.45}, {'connected_gene': 'COL6A5', 'score': 0.44}, {'connected_gene': 'PIR62051', 'score': 0.23}]
chr3 GH03I130395 130395100 130396752 0.54 [{'connected_gene': 'COL6A5', 'score': 4.78}, {'connected_gene': 'PIR62051', 'score': 0.39}]
chr3 GH03I130345 130345564 130345623 0.96 [{'connected_gene': 'COL6A5', 'score': 550.77}, {'connected_gene': 'PIR62051', 'score': 0.21}]
chr3 GH03I130457 130457299 130458161 0.2 [{'connected_gene': 'GC03M130467', 'score': 0.39}, {'connected_gene': 'PIR62051', 'score': 0.25}, {'connected_gene': 'COL6A5', 'score': 0.14}]
chr3 GH03I130469 130469626 130470866 0.2 [{'connected_gene': 'GC03M130467', 'score': 550.77}, {'connected_gene': 'COL6A6', 'score': 0.25}, {'connected_gene': 'COL6A5', 'score': 0.13}]

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