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
ENST00000216445 [[57936018, 57938308], [57947312, 57947472], [57948276, 57948378], [57949782, 57949869], [57957706, 57957789], [57960210, 57960570]] [[57938072, 57938308], [57947312, 57947472], [57948276, 57948378], [57949782, 57949869], [57957706, 57957789], [57960210, 57960433]]
ENST00000534528 [[57937972, 57938308], [57947312, 57947472], [57948276, 57948375], [57949782, 57949869], [57957659, 57957789], [57960230, 57960475]] [[57957767, 57957789], [57960230, 57960433]]
ENST00000422976 [[57937972, 57938308], [57942299, 57942422], [57947312, 57947472], [57948276, 57948375], [57949782, 57949869], [57957706, 57957789], [57960210, 57960475]] [[57938072, 57938308], [57942299, 57942422], [57947312, 57947472], [57948276, 57948375], [57949782, 57949869], [57957706, 57957789], [57960210, 57960433]]
ENST00000534126 [[57937972, 57938308], [57947312, 57947472], [57948276, 57948375], [57949782, 57949869], [57957706, 57957789], [57960210, 57960475]] [[57938072, 57938308], [57947312, 57947472], [57948276, 57948375], [57949782, 57949869], [57957706, 57957789], [57960210, 57960433]]
ENST00000530417 [[57937972, 57938308], [57947312, 57947472], [57948276, 57948375], [57949782, 57949869], [57957659, 57957789], [57960210, 57960585]] [[57957697, 57957789], [57960210, 57960433]]
ENST00000524996 [[57942031, 57942422], [57947312, 57947472], [57948276, 57948308]] [[57942204, 57942422], [57947312, 57947472], [57948276, 57948308]]
ENST00000526745 [[57945320, 57945699], [57947312, 57947472], [57948276, 57948375], [57949782, 57949902], [57957659, 57957789], [57960210, 57960564]] [[57957697, 57957789], [57960210, 57960433]]
ENST00000529860 [[57945496, 57945743], [57947312, 57947472], [57948276, 57948375], [57949782, 57949869], [57957706, 57957789], [57960230, 57960576]] [[57957767, 57957789], [57960230, 57960433]]
ENST00000527032 [[57945634, 57945743], [57947312, 57947472], [57948276, 57948378], [57949782, 57949912]] None
ENST00000532286 [[57947440, 57947472], [57948276, 57948375], [57949782, 57950018]] None
ENST00000526336 [[57949788, 57949902], [57957659, 57957789], [57960210, 57960564]] [[57957697, 57957789], [57960210, 57960433]]
Promoter
Chrom Start End Description
chr14 57960456 57960478 CAGE_peak_2_at_C14orf105_5end
chr14 57960545 57960595 CAGE_peak_1_at_C14orf105_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I057463 57463693 57464562 0.31 [{'connected_gene': 'CCDC198', 'score': 11.1}, {'connected_gene': 'GC14P057427', 'score': 0.28}]
chr14 GH14I057491 57491546 57495821 1.59 [{'connected_gene': 'CCDC198', 'score': 550.77}, {'connected_gene': 'GC14P057427', 'score': 0.2}]
chr14 GH14I057461 57461475 57462897 0.31 [{'connected_gene': 'CCDC198', 'score': 11.33}, {'connected_gene': 'GC14P057427', 'score': 0.29}]
chr14 GH14I057478 57478163 57478312 0.2 [{'connected_gene': 'CCDC198', 'score': 0.37}, {'connected_gene': 'GC14P057427', 'score': 0.23}]
chr14 GH14I057486 57486768 57487139 0.59 [{'connected_gene': 'NAA30', 'score': 5.97}, {'connected_gene': 'CCDC198', 'score': 5.84}, {'connected_gene': 'GC14P057427', 'score': 0.22}]