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
ENST00000307650 [[691812, 692043], [692119, 692249], [697416, 697544], [697782, 697884], [698119, 698474]] [[691991, 692043], [692119, 692249], [697416, 697544], [697782, 697884], [698119, 698190]]
ENST00000491999 [[691845, 692043], [692119, 692249], [696471, 696608], [697416, 697544], [697782, 697884], [698119, 698474]] [[691991, 692043], [692119, 692249], [696471, 696487]]
ENST00000474840 [[691928, 692043], [692119, 692249], [697782, 697884], [698119, 698474]] [[691991, 692043], [692119, 692249], [697782, 697828]]
ENST00000575894 [[696746, 698474]] None
NM_001331230 [[691803, 692043], [697782, 697884], [698119, 698474]] [[691991, 692043], [697782, 697884], [698119, 698190]]
NR_138605 [[691803, 692043], [697416, 697544], [697782, 697884], [698119, 698474]] None
NR_138607 [[691803, 692043], [696471, 696608], [697416, 697544], [697782, 697884], [698119, 698474]] None
NR_138606 [[691803, 692043], [692119, 692249], [697782, 697884], [698119, 698474]] None
NM_001331229 [[691803, 692043], [692119, 692249], [697416, 697544], [698119, 698474]] [[691991, 692043], [692119, 692249], [697416, 697544], [698119, 698190]]
NM_138418 [[691803, 692043], [692119, 692249], [697416, 697544], [697782, 697884], [698119, 698474]] [[691991, 692043], [692119, 692249], [697416, 697544], [697782, 697884], [698119, 698190]]
NR_138608 [[691803, 692043], [692119, 692249], [696471, 696604], [697416, 697544], [697782, 697884], [698119, 698474]] None
NR_138604 [[691803, 692043], [692119, 692249], [696471, 696608], [697416, 697544], [697782, 697884], [698119, 698474]] None
NR_138609 [[692253, 692345], [696471, 696608], [697416, 697544], [697782, 697884], [698119, 698474]] None
NR_138611 [[693053, 693144], [697416, 697544], [697782, 697884], [698119, 698474]] None
NR_138610 [[693053, 693144], [696471, 696608], [697416, 697544], [697782, 697884], [698119, 698474]] None
Promoter
Chrom Start End Description
chr16 691792 691854 CAGE_peak_1_at_FAM195A_5end
chr16 691903 691961 CAGE_peak_2_at_FAM195A_5end
chr16 692421 692454 CAGE_peak_3_at_FAM195A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I000635 635034 639110 2.3 [{'connected_gene': 'METTL26', 'score': 596.68}, {'connected_gene': 'GC16P000992', 'score': 550.77}, {'connected_gene': 'TRG-CCC2-2', 'score': 550.77}, {'connected_gene': 'LOC100287175', 'score': 550.77}, {'connected_gene': 'MCRIP2', 'score': 550.77}, {'connected_gene': 'WFIKKN1', 'score': 40.01}, {'connected_gene': 'CRAMP1', 'score': 25.06}, {'connected_gene': 'NARFL', 'score': 19.97}, {'connected_gene': 'ENSG00000269482', 'score': 19.37}, {'connected_gene': 'ENSG00000268836', 'score': 19.35}, {'connected_gene': 'WDR90', 'score': 15.99}, {'connected_gene': 'ENSG00000260646', 'score': 15.3}, {'connected_gene': 'WDR24', 'score': 14.88}, {'connected_gene': 'CCDC154', 'score': 14.36}, {'connected_gene': 'IFT140', 'score': 13.16}, {'connected_gene': 'LUC7L', 'score': 12.49}, {'connected_gene': 'UBE2I', 'score': 11.95}, {'connected_gene': 'TELO2', 'score': 11.94}, {'connected_gene': 'ENSG00000228779', 'score': 11.68}, {'connected_gene': 'C16orf91', 'score': 11.02}, {'connected_gene': 'JMJD8', 'score': 10.91}, {'connected_gene': 'UNKL', 'score': 10.36}, {'connected_gene': 'ENSG00000260425', 'score': 9.94}, {'connected_gene': 'RGS11', 'score': 9.89}, {'connected_gene': 'RPUSD1', 'score': 5.12}, {'connected_gene': 'RHBDL1', 'score': 4.91}, {'connected_gene': 'GC16M000639', 'score': 0.77}]
chr16 GH16I001081 1081672 1084474 1.46 [{'connected_gene': 'LUC7L', 'score': 23.42}, {'connected_gene': 'IFT140', 'score': 20.52}, {'connected_gene': 'TSC2', 'score': 15.59}, {'connected_gene': 'ENSG00000269482', 'score': 14.74}, {'connected_gene': 'WDR90', 'score': 14.57}, {'connected_gene': 'CRAMP1', 'score': 13.57}, {'connected_gene': 'WDR24', 'score': 13.36}, {'connected_gene': 'NME3', 'score': 13.09}, {'connected_gene': 'CCDC154', 'score': 12.79}, {'connected_gene': 'TELO2', 'score': 12.53}, {'connected_gene': 'ENSG00000262528', 'score': 12.22}, {'connected_gene': 'ENSG00000268836', 'score': 11.4}, {'connected_gene': 'PIGQ', 'score': 11.14}, {'connected_gene': 'EME2', 'score': 10.56}, {'connected_gene': 'UBE2I', 'score': 10.07}, {'connected_gene': 'NUBP2', 'score': 10.03}, {'connected_gene': 'UNKL', 'score': 9.83}, {'connected_gene': 'SSTR5-AS1', 'score': 9.19}, {'connected_gene': 'LOC105371038', 'score': 6.44}, {'connected_gene': 'SSTR5', 'score': 5.34}, {'connected_gene': 'CACNA1H', 'score': 1.75}, {'connected_gene': 'RAB40C', 'score': 1.72}, {'connected_gene': 'MCRIP2', 'score': 1.22}, {'connected_gene': 'C1QTNF8', 'score': 0.39}]
chr16 GH16I000640 640487 650623 2.28 [{'connected_gene': 'WDR90', 'score': 568.85}, {'connected_gene': 'GC16P000998', 'score': 550.77}, {'connected_gene': 'MCRIP2', 'score': 550.44}, {'connected_gene': 'IFT140', 'score': 40.86}, {'connected_gene': 'LUC7L', 'score': 34.98}, {'connected_gene': 'ENSG00000262528', 'score': 33.53}, {'connected_gene': 'WFIKKN1', 'score': 26.26}, {'connected_gene': 'CRAMP1', 'score': 22.83}, {'connected_gene': 'UBE2I', 'score': 18.5}, {'connected_gene': 'RHBDL1', 'score': 18.26}, {'connected_gene': 'WDR24', 'score': 16.88}, {'connected_gene': 'ENSG00000269482', 'score': 14.74}, {'connected_gene': 'JMJD8', 'score': 13.8}, {'connected_gene': 'LOC105371184', 'score': 12.96}, {'connected_gene': 'CCDC154', 'score': 12.76}, {'connected_gene': 'TELO2', 'score': 12.51}, {'connected_gene': 'ENSG00000260646', 'score': 12.26}, {'connected_gene': 'ENSG00000268836', 'score': 11.42}, {'connected_gene': 'PIGQ', 'score': 11.3}, {'connected_gene': 'WASH4P', 'score': 10.63}, {'connected_gene': 'UNKL', 'score': 9.8}, {'connected_gene': 'MRPL28', 'score': 5.02}, {'connected_gene': 'LOC105371038', 'score': 0.77}, {'connected_gene': 'GC16M000639', 'score': 0.77}, {'connected_gene': 'PIR38349', 'score': 0.44}]