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
ENST00000281456 [[186064394, 186064637], [186065917, 186066404], [186066912, 186067053], [186067967, 186071536]] [[186064526, 186064637], [186065917, 186066404], [186066912, 186067053], [186067967, 186068125]]
ENST00000491736 [[186064431, 186064637], [186065917, 186066404], [186066508, 186067053], [186067967, 186068395]] [[186064526, 186064637], [186065917, 186066404], [186066508, 186066537]]
NM_001151 [[186064416, 186064637], [186065917, 186066404], [186066912, 186067053], [186067967, 186071538]] [[186064526, 186064637], [186065917, 186066404], [186066912, 186067053], [186067967, 186068125]]
Promoter
Chrom Start End Description
chr4 186064412 186064426 CAGE_peak_1_at_SLC25A4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I185136 185136833 185138974 0.4 [{'connected_gene': 'CFAP97', 'score': 11.31}, {'connected_gene': 'HELT', 'score': 11.1}, {'connected_gene': 'SLC25A4', 'score': 0.44}, {'connected_gene': 'LOC105377588', 'score': 0.23}]
chr4 GH04I185139 185139649 185140139 0.2 [{'connected_gene': 'CFAP97', 'score': 11.11}, {'connected_gene': 'SLC25A4', 'score': 0.77}, {'connected_gene': 'LOC105377588', 'score': 0.23}]
chr4 GH04I185145 185145405 185145922 0.2 [{'connected_gene': 'HELT', 'score': 11.47}, {'connected_gene': 'SLC25A4', 'score': 0.77}, {'connected_gene': 'GC04P185149', 'score': 0.77}]
chr4 GH04I185106 185106756 185110800 0.66 [{'connected_gene': 'SLC25A4', 'score': 11.94}, {'connected_gene': 'HELT', 'score': 11.13}, {'connected_gene': 'LOC105377588', 'score': 0.34}, {'connected_gene': 'LINC02436', 'score': 0.22}]
chr4 GH04I185115 185115769 185116485 1.32 [{'connected_gene': 'SLC25A4', 'score': 12.33}, {'connected_gene': 'HELT', 'score': 11.28}, {'connected_gene': 'LOC105377588', 'score': 0.31}]
chr4 GH04I185111 185111411 185114417 1.14 [{'connected_gene': 'SLC25A4', 'score': 11.94}, {'connected_gene': 'HELT', 'score': 11.12}, {'connected_gene': 'LOC105377588', 'score': 0.31}]
chr4 GH04I185117 185117280 185117771 0.65 [{'connected_gene': 'SLC25A4', 'score': 12.33}, {'connected_gene': 'HELT', 'score': 11.28}, {'connected_gene': 'LOC105377588', 'score': 0.29}]
chr4 GH04I185118 185118937 185121091 0.73 [{'connected_gene': 'SLC25A4', 'score': 18.47}, {'connected_gene': 'HELT', 'score': 11.27}, {'connected_gene': 'LOC105377588', 'score': 0.29}]
chr4 GH04I185142 185142127 185144223 2.23 [{'connected_gene': 'SLC25A4', 'score': 557.23}, {'connected_gene': 'PRIMPOL', 'score': 12.48}, {'connected_gene': 'CFAP97', 'score': 9.56}, {'connected_gene': 'LOC105377588', 'score': 0.22}]
chr4 GH04I185127 185127088 185129236 1.17 [{'connected_gene': 'SLC25A4', 'score': 5.48}, {'connected_gene': 'PRIMPOL', 'score': 5.09}, {'connected_gene': 'LOC105377588', 'score': 0.26}]
chr4 GH04I185134 185134547 185134696 0.64 [{'connected_gene': 'SLC25A4', 'score': 0.44}, {'connected_gene': 'LOC105377588', 'score': 0.25}]
chr4 GH04I185144 185144801 185145000 0.4 [{'connected_gene': 'SLC25A4', 'score': 550.77}, {'connected_gene': 'GC04P185149', 'score': 0.77}]
chr4 GH04I185086 185086235 185086583 0.56 [{'connected_gene': 'LOC105377588', 'score': 550.77}, {'connected_gene': 'LRP2BP', 'score': 29.12}, {'connected_gene': 'CCDC110', 'score': 21.61}, {'connected_gene': 'HELT', 'score': 11.82}, {'connected_gene': 'CASP3', 'score': 10.28}, {'connected_gene': 'PRIMPOL', 'score': 10.28}, {'connected_gene': 'LINC02436', 'score': 0.29}, {'connected_gene': 'SLC25A4', 'score': 0.22}]
chr4 GH04I185149 185149507 185149656 0.58 [{'connected_gene': 'GC04P185149', 'score': 550.77}, {'connected_gene': 'SLC25A4', 'score': 0.44}, {'connected_gene': 'SNX25', 'score': 0.23}]