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
ENST00000227918 [[62037626, 62037743], [62038352, 62038540], [62040428, 62040628]] [[62037688, 62037743], [62038352, 62038540], [62040428, 62040467]]
ENST00000525380 [[62037629, 62037743], [62038352, 62039543]] [[62037688, 62037743], [62038352, 62038660]]
NM_002411 [[62037626, 62037743], [62038352, 62038540], [62040428, 62040632]] [[62037688, 62037743], [62038352, 62038540], [62040428, 62040467]]
Promoter
Chrom Start End Description
chr11 62037622 62037637 CAGE_peak_1_at_SCGB2A2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I062041 62041386 62049469 1.27 [{'connected_gene': 'CSKMT', 'score': 86.38}, {'connected_gene': 'CPSF7', 'score': 81.91}, {'connected_gene': 'SNHG1', 'score': 78.64}, {'connected_gene': 'GANAB', 'score': 63.72}, {'connected_gene': 'NXF1', 'score': 59.2}, {'connected_gene': 'LOC105369332', 'score': 58.24}, {'connected_gene': 'TMEM138', 'score': 54.15}, {'connected_gene': 'TUT1', 'score': 53.67}, {'connected_gene': 'MTA2', 'score': 46.62}, {'connected_gene': 'INTS5', 'score': 44.98}, {'connected_gene': 'EML3', 'score': 41.73}, {'connected_gene': 'STX5', 'score': 41.7}, {'connected_gene': 'RN7SL23P', 'score': 34.15}, {'connected_gene': 'TAF6L', 'score': 31.74}, {'connected_gene': 'ENSG00000267811', 'score': 24.14}, {'connected_gene': 'WDR74', 'score': 21.39}, {'connected_gene': 'VPS37C', 'score': 20.51}, {'connected_gene': 'LBHD1', 'score': 14.59}, {'connected_gene': 'LRRN4CL', 'score': 11.94}, {'connected_gene': 'ZBTB3', 'score': 11.01}, {'connected_gene': 'UBXN1', 'score': 10.92}, {'connected_gene': 'UQCC3', 'score': 10.78}, {'connected_gene': 'TMEM216', 'score': 10.69}, {'connected_gene': 'TMEM179B', 'score': 10.28}, {'connected_gene': 'AHNAK', 'score': 10.11}, {'connected_gene': 'ENSG00000269176', 'score': 9.76}, {'connected_gene': 'GNG3', 'score': 9.69}, {'connected_gene': 'BEST1', 'score': 9.25}, {'connected_gene': 'RAB3IL1', 'score': 6.94}, {'connected_gene': 'SCGB2A2', 'score': 5.85}, {'connected_gene': 'INCENP', 'score': 5.22}, {'connected_gene': 'GC11P062053', 'score': 0.44}, {'connected_gene': 'RPS2P37', 'score': 0.29}]
chr11 GH11I062270 62270109 62270168 0.61 [{'connected_gene': 'SCGB2A2', 'score': 550.77}, {'connected_gene': 'SCGB2A1', 'score': 4.71}, {'connected_gene': 'SCGB1D4', 'score': 0.31}]
chr11 GH11I062325 62325009 62325158 0.76 [{'connected_gene': 'SCGB2A2', 'score': 11.02}, {'connected_gene': 'NPM1P35', 'score': 0.44}, {'connected_gene': 'SCGB1D4', 'score': 0.31}]
chr11 GH11I062242 62242169 62242318 1.3 [{'connected_gene': 'SCGB1D2', 'score': 550.77}, {'connected_gene': 'SCGB2A2', 'score': 11.89}, {'connected_gene': 'ASRGL1', 'score': 10.56}, {'connected_gene': 'ENSG00000255126', 'score': 10.51}, {'connected_gene': 'SCGB1A1', 'score': 10.51}, {'connected_gene': 'ENSG00000254404', 'score': 0.37}]