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
ENST00000294117 [[62475129, 62475387], [62475766, 62475866], [62476149, 62476673]] [[62475767, 62475866], [62476149, 62476278]]
NM_012202 [[62475065, 62475387], [62475766, 62475866], [62476149, 62476678]] [[62475767, 62475866], [62476149, 62476278]]
Promoter
Chrom Start End Description
chr11 62475140 62475195 CAGE_peak_1_at_GNG3_5end
chr11 62475766 62475783 CAGE_peak_2_at_GNG3_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 GH11I062704 62704962 62711016 2.03 [{'connected_gene': 'BSCL2', 'score': 582.87}, {'connected_gene': 'GNG3', 'score': 550.77}, {'connected_gene': 'TTC9C', 'score': 15.45}, {'connected_gene': 'HNRNPUL2-BSCL2', 'score': 0.37}]