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
ENST00000264428 [[157997208, 157997449], [157999147, 157999298], [158041707, 158041814], [158043481, 158043549], [158057620, 158057850], [158057955, 158058038], [158059960, 158060101], [158064958, 158065111], [158073869, 158074162], [158091583, 158093242]] [[157999176, 157999298], [158041707, 158041814], [158043481, 158043549], [158057620, 158057850], [158057955, 158058038], [158059960, 158060101], [158064958, 158065111], [158073869, 158074162], [158091583, 158091880]]
ENST00000541722 [[157997276, 157997449], [157999147, 157999298], [158041707, 158041814], [158043481, 158043549], [158057620, 158057850], [158057955, 158058038], [158059960, 158060101], [158064958, 158065111], [158091583, 158093242]] [[157999176, 157999298], [158041707, 158041814], [158043481, 158043549], [158057620, 158057850], [158057955, 158058038], [158059960, 158060101], [158064958, 158065111], [158091583, 158091591]]
ENST00000512619 [[157997346, 157997449], [157999147, 157999298], [158091583, 158092057]] [[157999176, 157999298], [158091583, 158091632]]
ENST00000509282 [[157997554, 157997710], [157999147, 157999298], [158041707, 158041814], [158043481, 158043549], [158057620, 158057850], [158057955, 158058038], [158059960, 158060101], [158064958, 158065111], [158073869, 158074162], [158091583, 158091958]] [[157999176, 157999298], [158041707, 158041814], [158043481, 158043549], [158057620, 158057850], [158057955, 158058038], [158059960, 158060101], [158064958, 158065111], [158073869, 158074162], [158091583, 158091880]]
ENST00000515642 [[157997317, 157997449], [157999147, 157999298], [158005815, 158005876], [158012522, 158012534], [158041707, 158041814], [158043481, 158043549], [158057620, 158057663]] [[157999176, 157999298], [158005815, 158005834]]
ENST00000506411 [[157997355, 157997449], [157999147, 157999298], [158005815, 158005876], [158041707, 158041814], [158043481, 158043549], [158057620, 158057850], [158057955, 158058038], [158059960, 158060024]] [[157999176, 157999298], [158005815, 158005834]]
ENST00000510970 [[158057516, 158057850], [158057955, 158058038], [158059960, 158060052]] None
NM_001166061 [[157997276, 157997449], [157999147, 157999298], [158041707, 158041814], [158043481, 158043549], [158057620, 158057850], [158057955, 158058038], [158059960, 158060101], [158064958, 158065111], [158091583, 158093242]] [[157999176, 157999298], [158041707, 158041814], [158043481, 158043549], [158057620, 158057850], [158057955, 158058038], [158059960, 158060101], [158064958, 158065111], [158091583, 158091591]]
NM_000824 [[157997276, 157997449], [157999147, 157999298], [158041707, 158041814], [158043481, 158043549], [158057620, 158057850], [158057955, 158058038], [158059960, 158060101], [158064958, 158065111], [158073869, 158074162], [158091583, 158093242]] [[157999176, 157999298], [158041707, 158041814], [158043481, 158043549], [158057620, 158057850], [158057955, 158058038], [158059960, 158060101], [158064958, 158065111], [158073869, 158074162], [158091583, 158091880]]
NM_001166060 [[157997554, 157997710], [157999147, 157999298], [158041707, 158041814], [158043481, 158043549], [158057620, 158057850], [158057955, 158058038], [158059960, 158060101], [158064958, 158065111], [158073869, 158074162], [158091583, 158093242]] [[157999176, 157999298], [158041707, 158041814], [158043481, 158043549], [158057620, 158057850], [158057955, 158058038], [158059960, 158060101], [158064958, 158065111], [158073869, 158074162], [158091583, 158091880]]
Promoter
Chrom Start End Description
chr4 157997240 157997259 CAGE_peak_2_at_GLRB_5end
chr4 157997273 157997391 CAGE_peak_1_at_GLRB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I156168 156168689 156170131 0.74 [{'connected_gene': 'TDO2', 'score': 6.25}, {'connected_gene': 'GLRB', 'score': 4.17}, {'connected_gene': 'LOC102724785', 'score': 0.31}, {'connected_gene': 'LOC105377508', 'score': 0.1}]
chr4 GH04I157265 157265515 157265765 0.36 [{'connected_gene': 'GRIA2', 'score': 10.5}, {'connected_gene': 'RNU6-582P', 'score': 10.5}, {'connected_gene': 'LOC391707', 'score': 10.5}, {'connected_gene': 'GLRB', 'score': 3.22}, {'connected_gene': 'PDGFC', 'score': 1.43}, {'connected_gene': 'LINC02433', 'score': 0.06}]
chr4 GH04I157115 157115248 157116907 0.86 [{'connected_gene': 'GLRB', 'score': 0.26}, {'connected_gene': 'RNU6-582P', 'score': 0.17}]
chr4 GH04I157100 157100486 157101256 0.2 [{'connected_gene': 'GLRB', 'score': 0.34}, {'connected_gene': 'RNU6-582P', 'score': 0.15}]
chr4 GH04I157101 157101304 157101877 0.2 [{'connected_gene': 'GLRB', 'score': 0.31}, {'connected_gene': 'RNU6-582P', 'score': 0.15}]
chr4 GH04I157095 157095573 157096494 0.2 [{'connected_gene': 'GLRB', 'score': 4.59}, {'connected_gene': 'RNU6-582P', 'score': 0.14}]
chr4 GH04I157106 157106128 157114603 0.52 [{'connected_gene': 'GLRB', 'score': 0.29}, {'connected_gene': 'RNU6-582P', 'score': 0.16}]
chr4 GH04I157075 157075800 157077000 1.46 [{'connected_gene': 'GLRB', 'score': 555.74}, {'connected_gene': 'RNU6-582P', 'score': 0.13}]
chr4 GH04I157120 157120389 157125789 0.2 [{'connected_gene': 'GLRB', 'score': 0.25}, {'connected_gene': 'RNU6-582P', 'score': 0.18}]
chr4 GH04I157127 157127242 157128593 0.38 [{'connected_gene': 'GLRB', 'score': 0.23}, {'connected_gene': 'RNU6-582P', 'score': 0.19}]
chr4 GH04I157014 157014801 157016018 0.92 [{'connected_gene': 'GLRB', 'score': 4.55}, {'connected_gene': 'RPPH1-3P', 'score': 0.31}, {'connected_gene': 'GC04P157065', 'score': 0.25}]
chr4 GH04I157043 157043001 157043400 0.38 [{'connected_gene': 'GLRB', 'score': 5.75}, {'connected_gene': 'GC04P157065', 'score': 0.34}, {'connected_gene': 'RPPH1-3P', 'score': 0.22}]
chr4 GH04I157125 157125869 157127026 0.2 [{'connected_gene': 'ENSG00000250622', 'score': 11.06}, {'connected_gene': 'PDGFC', 'score': 11.05}, {'connected_gene': 'GLRB', 'score': 5.17}, {'connected_gene': 'RNU6-582P', 'score': 0.18}]
chr4 GH04I156998 156998577 157000475 1.12 [{'connected_gene': 'ENSG00000250622', 'score': 11.91}, {'connected_gene': 'PDGFC', 'score': 11.91}, {'connected_gene': 'GLRB', 'score': 4.52}, {'connected_gene': 'RPPH1-3P', 'score': 0.39}, {'connected_gene': 'GC04P157065', 'score': 0.2}]
chr4 GH04I157003 157003215 157005562 1.05 [{'connected_gene': 'ENSG00000250622', 'score': 11.89}, {'connected_gene': 'PDGFC', 'score': 11.89}, {'connected_gene': 'GLRB', 'score': 4.53}, {'connected_gene': 'RPPH1-3P', 'score': 0.37}, {'connected_gene': 'GC04P157065', 'score': 0.21}]
chr4 GH04I156974 156974015 156974950 0.4 [{'connected_gene': 'ENSG00000250622', 'score': 550.77}, {'connected_gene': 'GLRB', 'score': 4.4}, {'connected_gene': 'RPPH1-3P', 'score': 0.39}]