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
ENST00000376288 [[31082866, 31085306], [31088111, 31088223]] [[31083801, 31085306], [31088111, 31088196]]
NM_001264 [[31082864, 31085306], [31088111, 31088252]] [[31083801, 31085306], [31088111, 31088196]]
NM_001264 [[2597568, 2600007], [2602816, 2602957]] [[2598505, 2600007], [2602816, 2602901]]
NM_001264 [[2380036, 2382475], [2385279, 2385420]] [[2380970, 2382475], [2385279, 2385364]]
NM_001264 [[2464789, 2467228], [2470032, 2470173]] [[2465723, 2467228], [2470032, 2470117]]
NM_001264 [[2378682, 2381121], [2383932, 2384073]] [[2379616, 2381121], [2383932, 2384017]]
NM_001264 [[2431221, 2433660], [2436464, 2436605]] [[2432155, 2433660], [2436464, 2436549]]
Promoter
Chrom Start End Description
chr6 31088214 31088228 CAGE_peak_1_at_CDSN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I031144 31144180 31145414 0.2 [{'connected_gene': 'CCHCR1', 'score': 32.5}, {'connected_gene': 'PSORS1C3', 'score': 20.2}, {'connected_gene': 'CDSN', 'score': 12.75}, {'connected_gene': 'PSORS1C1', 'score': 12.7}, {'connected_gene': 'C6orf15', 'score': 11.99}, {'connected_gene': 'ENSG00000272501', 'score': 11.78}, {'connected_gene': 'POU5F1', 'score': 11.78}, {'connected_gene': 'DPCR1', 'score': 10.43}, {'connected_gene': 'HCG22', 'score': 8.7}, {'connected_gene': 'MICA-AS1', 'score': 7.24}, {'connected_gene': 'TCF19', 'score': 4.67}, {'connected_gene': 'POLR2LP1', 'score': 0.77}]
chr6 GH06I031122 31122034 31123633 1.05 [{'connected_gene': 'HCG18', 'score': 30.86}, {'connected_gene': 'PSORS1C1', 'score': 27.73}, {'connected_gene': 'HCG22', 'score': 17.26}, {'connected_gene': 'PSORS1C2', 'score': 14.27}, {'connected_gene': 'MDC1', 'score': 12.77}, {'connected_gene': 'MICB', 'score': 11.69}, {'connected_gene': 'LSM2', 'score': 10.88}, {'connected_gene': 'GTF2H4', 'score': 10.59}, {'connected_gene': 'DXO', 'score': 10.18}, {'connected_gene': 'C6orf48', 'score': 9.83}, {'connected_gene': 'MICA-AS1', 'score': 8.44}, {'connected_gene': 'POU5F1', 'score': 6.38}, {'connected_gene': 'TCF19', 'score': 4.69}, {'connected_gene': 'CDSN', 'score': 0.77}]
chr6 GH06I031072 31072201 31072933 0.94 [{'connected_gene': 'HCG22', 'score': 25.48}, {'connected_gene': 'C6orf15', 'score': 12.0}, {'connected_gene': 'PSORS1C1', 'score': 11.99}, {'connected_gene': 'CDSN', 'score': 11.83}, {'connected_gene': 'VARS2', 'score': 11.57}, {'connected_gene': 'GTF2H4', 'score': 11.57}, {'connected_gene': 'DDR1', 'score': 11.56}, {'connected_gene': 'HCG21', 'score': 11.37}, {'connected_gene': 'DDR1-AS1', 'score': 11.29}, {'connected_gene': 'DPCR1', 'score': 11.15}, {'connected_gene': 'FLOT1', 'score': 10.53}, {'connected_gene': 'IER3', 'score': 10.53}, {'connected_gene': 'POU5F1', 'score': 10.19}, {'connected_gene': 'ENSG00000272501', 'score': 7.34}, {'connected_gene': 'RNU6-1133P', 'score': 0.39}, {'connected_gene': 'GC06P031584', 'score': 0.37}]
chr6 GH06I031079 31079601 31080097 0.95 [{'connected_gene': 'HCG22', 'score': 25.42}, {'connected_gene': 'PSORS1C2', 'score': 12.74}, {'connected_gene': 'PSORS1C1', 'score': 12.02}, {'connected_gene': 'C6orf15', 'score': 12.02}, {'connected_gene': 'CDSN', 'score': 11.84}, {'connected_gene': 'VARS2', 'score': 11.57}, {'connected_gene': 'GTF2H4', 'score': 11.57}, {'connected_gene': 'DDR1', 'score': 11.56}, {'connected_gene': 'DDR1-AS1', 'score': 11.29}, {'connected_gene': 'DPCR1', 'score': 11.14}, {'connected_gene': 'HCG21', 'score': 11.12}, {'connected_gene': 'POU5F1', 'score': 10.19}, {'connected_gene': 'TCF19', 'score': 5.59}, {'connected_gene': 'RNU6-1133P', 'score': 0.77}, {'connected_gene': 'GC06P031584', 'score': 0.34}]
chr6 GH06I031068 31068964 31069153 0.81 [{'connected_gene': 'HCG22', 'score': 28.88}, {'connected_gene': 'PSORS1C1', 'score': 11.53}, {'connected_gene': 'CDSN', 'score': 11.52}, {'connected_gene': 'VARS2', 'score': 11.46}, {'connected_gene': 'GTF2H4', 'score': 11.46}, {'connected_gene': 'DDR1', 'score': 11.45}, {'connected_gene': 'C6orf15', 'score': 11.44}, {'connected_gene': 'DDR1-AS1', 'score': 11.43}, {'connected_gene': 'HCG21', 'score': 11.42}, {'connected_gene': 'DPCR1', 'score': 11.41}, {'connected_gene': 'RNU6-1133P', 'score': 0.39}, {'connected_gene': 'GC06P031584', 'score': 0.39}]
chr6 GH06I031070 31070416 31071413 0.86 [{'connected_gene': 'HCG22', 'score': 26.03}, {'connected_gene': 'PSORS1C1', 'score': 11.55}, {'connected_gene': 'CDSN', 'score': 11.53}, {'connected_gene': 'VARS2', 'score': 11.46}, {'connected_gene': 'GTF2H4', 'score': 11.46}, {'connected_gene': 'DDR1', 'score': 11.45}, {'connected_gene': 'C6orf15', 'score': 11.44}, {'connected_gene': 'DDR1-AS1', 'score': 11.43}, {'connected_gene': 'HCG21', 'score': 11.42}, {'connected_gene': 'DPCR1', 'score': 11.41}, {'connected_gene': 'FLOT1', 'score': 10.4}, {'connected_gene': 'IER3', 'score': 10.4}, {'connected_gene': 'SKIV2L', 'score': 6.93}, {'connected_gene': 'ENSG00000271581', 'score': 5.39}, {'connected_gene': 'POU5F1', 'score': 5.13}, {'connected_gene': 'RNU6-1133P', 'score': 0.39}, {'connected_gene': 'GC06P031584', 'score': 0.39}]
chr6 GH06I031139 31139056 31139115 0.61 [{'connected_gene': 'PSORS1C2', 'score': 550.77}, {'connected_gene': 'POLR2LP1', 'score': 550.77}, {'connected_gene': 'CDSN', 'score': 0.37}, {'connected_gene': 'PSORS1C1', 'score': 0.34}]
chr6 GH06I031137 31137402 31138000 1.16 [{'connected_gene': 'PSORS1C2', 'score': 579.15}, {'connected_gene': 'PSORS1C1', 'score': 23.54}, {'connected_gene': 'HCG18', 'score': 16.55}, {'connected_gene': 'HCG27', 'score': 12.09}, {'connected_gene': 'ZBTB12', 'score': 11.97}, {'connected_gene': 'RPP21', 'score': 10.93}, {'connected_gene': 'PRR3', 'score': 10.34}, {'connected_gene': 'GTF2H4', 'score': 9.79}, {'connected_gene': 'DXO', 'score': 9.73}, {'connected_gene': 'HLA-C', 'score': 7.77}, {'connected_gene': 'CDSN', 'score': 0.37}]
chr6 GH06I031128 31128204 31128353 0.63 [{'connected_gene': 'PSORS1C2', 'score': 10.5}, {'connected_gene': 'CDSN', 'score': 0.44}, {'connected_gene': 'PSORS1C1', 'score': 0.39}]
chr6 GH06I031113 31113678 31116136 1.49 [{'connected_gene': 'PSORS1C1', 'score': 604.32}, {'connected_gene': 'HCG22', 'score': 25.69}, {'connected_gene': 'MICB', 'score': 10.95}, {'connected_gene': 'ENSG00000272501', 'score': 10.28}, {'connected_gene': 'POU5F1', 'score': 10.08}, {'connected_gene': 'HLA-C', 'score': 8.58}, {'connected_gene': 'TRIM10', 'score': 5.27}, {'connected_gene': 'TCF19', 'score': 4.68}, {'connected_gene': 'CDSN', 'score': 0.44}]
chr6 GH06I031124 31124893 31127492 0.89 [{'connected_gene': 'PSORS1C1', 'score': 41.67}, {'connected_gene': 'PSORS1C2', 'score': 29.84}, {'connected_gene': 'CCHCR1', 'score': 21.64}, {'connected_gene': 'HCG22', 'score': 13.48}, {'connected_gene': 'POU5F1', 'score': 5.28}, {'connected_gene': 'HCG27', 'score': 4.61}, {'connected_gene': 'CDSN', 'score': 0.44}]
chr6 GH06I031116 31116942 31117600 0.46 [{'connected_gene': 'PSORS1C1', 'score': 54.32}, {'connected_gene': 'PSORS1C2', 'score': 25.32}, {'connected_gene': 'HLA-C', 'score': 17.04}, {'connected_gene': 'CDSN', 'score': 0.77}]
chr6 GH06I031120 31120436 31120495 0.79 [{'connected_gene': 'CDSN', 'score': 550.77}, {'connected_gene': 'PSORS1C1', 'score': 16.38}]