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
ENST00000295148 [[24252209, 24254032], [24255698, 24255816], [24260546, 24262382], [24270183, 24270223]] [[24253802, 24254032], [24255698, 24255816], [24260546, 24262364]]
ENST00000406895 [[24252216, 24254032], [24260546, 24262382], [24270183, 24270231]] [[24253981, 24254032], [24260546, 24262364]]
ENST00000443232 [[24261842, 24262382], [24272423, 24272445]] [[24261842, 24262364]]
NM_025203 [[24252205, 24254032], [24255698, 24255816], [24260546, 24262382], [24270183, 24270296]] [[24253802, 24254032], [24255698, 24255816], [24260546, 24262364]]
NM_001142319 [[24252205, 24254032], [24260546, 24262382], [24270183, 24270296]] [[24253981, 24254032], [24260546, 24262364]]
Promoter
Chrom Start End Description
chr2 24270217 24270232 CAGE_peak_2_at_C2orf44_5end
chr2 24270245 24270277 CAGE_peak_1_at_C2orf44_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I024082 24082186 24085792 2.28 [{'connected_gene': 'TP53I3', 'score': 574.02}, {'connected_gene': 'FAM228B', 'score': 38.04}, {'connected_gene': 'ATAD2B', 'score': 16.13}, {'connected_gene': 'PFN4', 'score': 12.48}, {'connected_gene': 'WDCP', 'score': 10.58}, {'connected_gene': 'ENSG00000271936', 'score': 10.05}, {'connected_gene': 'FAM228A', 'score': 5.42}, {'connected_gene': 'GC02P023754', 'score': 0.05}]
chr2 GH02I024045 24045670 24048196 2.04 [{'connected_gene': 'WDCP', 'score': 580.15}, {'connected_gene': 'RNU6-370P', 'score': 550.77}, {'connected_gene': 'FAM228B', 'score': 34.71}, {'connected_gene': 'ATAD2B', 'score': 25.92}, {'connected_gene': 'PFN4', 'score': 12.79}, {'connected_gene': 'ENSG00000271936', 'score': 10.06}, {'connected_gene': 'FAM228A', 'score': 5.52}, {'connected_gene': 'MFSD2B', 'score': 0.28}, {'connected_gene': 'GC02P023754', 'score': 0.06}]
chr2 GH02I024970 24970449 24974021 2.3 [{'connected_gene': 'DNAJC27', 'score': 557.15}, {'connected_gene': 'DNAJC27-AS1', 'score': 550.77}, {'connected_gene': 'ADCY3', 'score': 37.72}, {'connected_gene': 'ASXL2', 'score': 14.78}, {'connected_gene': 'WDCP', 'score': 11.46}, {'connected_gene': 'EFR3B', 'score': 11.4}, {'connected_gene': 'LINC01381', 'score': 11.08}, {'connected_gene': 'POMC', 'score': 10.81}, {'connected_gene': 'PTRHD1', 'score': 6.48}, {'connected_gene': 'ENSG00000207069', 'score': 0.28}, {'connected_gene': 'GC02M025008', 'score': 0.28}]
chr2 GH02I024791 24791001 24795826 2.5 [{'connected_gene': 'PTRHD1', 'score': 557.21}, {'connected_gene': 'CENPO', 'score': 556.08}, {'connected_gene': 'LOC105369164', 'score': 550.77}, {'connected_gene': 'ATAD2B', 'score': 23.64}, {'connected_gene': 'DNMT3A', 'score': 14.01}, {'connected_gene': 'ITSN2', 'score': 13.63}, {'connected_gene': 'WDCP', 'score': 11.15}, {'connected_gene': 'FAM228B', 'score': 10.41}, {'connected_gene': 'ADCY3', 'score': 9.13}, {'connected_gene': 'NCOA1', 'score': 7.68}, {'connected_gene': 'PIR51987', 'score': 0.31}]
chr2 GH02I024075 24075204 24078746 2.32 [{'connected_gene': 'FAM228B', 'score': 587.3}, {'connected_gene': 'GC02M024079', 'score': 550.77}, {'connected_gene': 'PIR43014', 'score': 550.77}, {'connected_gene': 'SF3B6', 'score': 550.77}, {'connected_gene': 'TP53I3', 'score': 34.48}, {'connected_gene': 'ATAD2B', 'score': 16.14}, {'connected_gene': 'PFN4', 'score': 13.19}, {'connected_gene': 'WDCP', 'score': 10.6}, {'connected_gene': 'ENSG00000271936', 'score': 10.05}, {'connected_gene': 'GC02P023754', 'score': 0.05}]
chr2 GH02I024048 24048981 24050800 1.89 [{'connected_gene': 'FKBP1B', 'score': 550.77}, {'connected_gene': 'WDCP', 'score': 550.77}, {'connected_gene': 'FAM228B', 'score': 46.56}, {'connected_gene': 'SF3B6', 'score': 12.16}, {'connected_gene': 'MFSD2B', 'score': 11.81}, {'connected_gene': 'TP53I3', 'score': 11.13}, {'connected_gene': 'UBXN2A', 'score': 10.72}, {'connected_gene': 'ATAD2B', 'score': 10.72}, {'connected_gene': 'PFN4', 'score': 10.09}, {'connected_gene': 'GC02M024079', 'score': 0.31}, {'connected_gene': 'PIR43014', 'score': 0.31}, {'connected_gene': 'GC02P023754', 'score': 0.06}]