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
ENST00000372538 [[76993726, 76993983], [76994367, 76994501], [76994695, 76994750], [76994817, 76994936], [76995024, 76995130], [76995373, 76995501], [76995592, 76995769]] [[76993830, 76993983], [76994367, 76994501], [76994695, 76994750], [76994817, 76994936], [76995024, 76995130], [76995373, 76995501], [76995592, 76995686]]
ENST00000460899 [[76993728, 76993983], [76994367, 76994501], [76994695, 76994936], [76995024, 76995488]] None
ENST00000494596 [[76993735, 76993983], [76994367, 76994501], [76994695, 76994750], [76995592, 76995694]] None
ENST00000470947 [[76993741, 76993983], [76994367, 76994501], [76994695, 76994750], [76994817, 76994936], [76995024, 76995270]] None
ENST00000469299 [[76993741, 76993983], [76994367, 76994501], [76994695, 76994750], [76994817, 76994936], [76995024, 76995130], [76995377, 76995501], [76995592, 76995683]] [[76993830, 76993983], [76994367, 76994501], [76994695, 76994750], [76994817, 76994936], [76995024, 76995130], [76995377, 76995501], [76995592, 76995683]]
ENST00000490521 [[76994183, 76994501], [76994695, 76994750], [76994817, 76994936], [76995024, 76995094]] None
ENST00000491270 [[76995072, 76995130], [76995373, 76995788]] None
NM_144589 [[76993728, 76993983], [76994367, 76994501], [76994695, 76994750], [76994817, 76994936], [76995024, 76995130], [76995373, 76995501], [76995592, 76995770]] [[76993830, 76993983], [76994367, 76994501], [76994695, 76994750], [76994817, 76994936], [76995024, 76995130], [76995373, 76995501], [76995592, 76995686]]
Promoter
Chrom Start End Description
chr10 76995654 76995663 CAGE_peak_6_at_COMTD1_5end
chr10 76995675 76995688 CAGE_peak_3_at_COMTD1_5end
chr10 76995689 76995737 CAGE_peak_1_at_COMTD1_5end
chr10 76995787 76995798 CAGE_peak_4_at_COMTD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I075207 75207064 75213065 2.51 [{'connected_gene': 'VDAC2', 'score': 550.77}, {'connected_gene': 'KAT6B', 'score': 36.8}, {'connected_gene': 'ZNF503-AS1', 'score': 23.37}, {'connected_gene': 'COMTD1', 'score': 6.64}, {'connected_gene': 'PIR38247', 'score': 0.31}]
chr10 GH10I075215 75214034 75214642 0.2 [{'connected_gene': 'VDAC2', 'score': 0.77}, {'connected_gene': 'COMTD1', 'score': 0.34}]
chr10 GH10I075250 75250379 75252074 0.69 [{'connected_gene': 'DUSP13', 'score': 10.72}, {'connected_gene': 'ZNF503-AS1', 'score': 5.75}, {'connected_gene': 'COMTD1', 'score': 0.37}, {'connected_gene': 'RPL39P25', 'score': 0.37}]
chr10 GH10I075099 75099502 75102310 1.75 [{'connected_gene': 'DUSP13', 'score': 558.8}, {'connected_gene': 'SAMD8', 'score': 550.77}, {'connected_gene': 'ZNF503-AS1', 'score': 18.02}, {'connected_gene': 'KAT6B', 'score': 9.71}, {'connected_gene': 'PPIAP13', 'score': 7.37}, {'connected_gene': 'COMTD1', 'score': 4.94}]
chr10 GH10I075201 75201462 75203657 1.13 [{'connected_gene': 'DUSP13', 'score': 24.47}, {'connected_gene': 'COMTD1', 'score': 7.58}, {'connected_gene': 'VDAC2', 'score': 0.44}, {'connected_gene': 'PIR38247', 'score': 0.34}]
chr10 GH10I075216 75216598 75217385 0.58 [{'connected_gene': 'DUPD1', 'score': 9.18}, {'connected_gene': 'VDAC2', 'score': 0.44}, {'connected_gene': 'COMTD1', 'score': 0.37}]
chr10 GH10I075187 75187182 75188844 1.17 [{'connected_gene': 'ZNF503-AS1', 'score': 17.07}, {'connected_gene': 'PPIAP13', 'score': 6.75}, {'connected_gene': 'DUSP13', 'score': 5.97}, {'connected_gene': 'COMTD1', 'score': 5.77}, {'connected_gene': 'PIR38247', 'score': 0.44}, {'connected_gene': 'VDAC2', 'score': 0.34}, {'connected_gene': 'GC10P075147', 'score': 0.26}]
chr10 GH10I075165 75165995 75167959 0.96 [{'connected_gene': 'ZNF503-AS1', 'score': 18.64}, {'connected_gene': 'DUSP13', 'score': 16.57}, {'connected_gene': 'COMTD1', 'score': 5.5}, {'connected_gene': 'PIR38247', 'score': 0.39}, {'connected_gene': 'GC10P075147', 'score': 0.37}, {'connected_gene': 'PIR60449', 'score': 0.37}, {'connected_gene': 'SAMD8', 'score': 0.2}]
chr10 GH10I075261 75261440 75264181 1.72 [{'connected_gene': 'ZNF503-AS1', 'score': 49.41}, {'connected_gene': 'HMGA1P5', 'score': 4.43}, {'connected_gene': 'RPL39P25', 'score': 0.44}, {'connected_gene': 'COMTD1', 'score': 0.31}]
chr10 GH10I075222 75222453 75227728 1.15 [{'connected_gene': 'ZNF503-AS1', 'score': 16.53}, {'connected_gene': 'DUPD1', 'score': 9.99}, {'connected_gene': 'COMTD1', 'score': 7.42}, {'connected_gene': 'VDAC2', 'score': 4.8}, {'connected_gene': 'PPIAP13', 'score': 4.39}]
chr10 GH10I075214 75214706 75216325 0.38 [{'connected_gene': 'ZNF503-AS1', 'score': 18.44}, {'connected_gene': 'DUPD1', 'score': 9.18}, {'connected_gene': 'COMTD1', 'score': 6.57}, {'connected_gene': 'DUSP13', 'score': 5.93}, {'connected_gene': 'VDAC2', 'score': 0.44}]
chr10 GH10I075252 75252753 75254012 0.84 [{'connected_gene': 'ZNF503-AS1', 'score': 13.04}, {'connected_gene': 'KAT6B', 'score': 12.37}, {'connected_gene': 'COMTD1', 'score': 0.37}, {'connected_gene': 'RPL39P25', 'score': 0.37}]
chr10 GH10I075228 75228089 75229540 0.56 [{'connected_gene': 'ZNF503-AS1', 'score': 17.54}, {'connected_gene': 'COMTD1', 'score': 7.46}, {'connected_gene': 'PPIAP13', 'score': 4.4}, {'connected_gene': 'VDAC2', 'score': 0.37}]
chr10 GH10I075229 75229601 75232662 1.07 [{'connected_gene': 'ZNF503-AS1', 'score': 18.16}, {'connected_gene': 'COMTD1', 'score': 7.8}, {'connected_gene': 'DUSP13', 'score': 5.92}, {'connected_gene': 'PPIAP13', 'score': 4.35}, {'connected_gene': 'VDAC2', 'score': 0.34}]
chr10 GH10I075243 75243483 75248184 0.98 [{'connected_gene': 'ZNF503-AS1', 'score': 32.59}, {'connected_gene': 'RPL39P25', 'score': 13.46}, {'connected_gene': 'HMGA1P5', 'score': 13.41}, {'connected_gene': 'DUSP13', 'score': 11.42}, {'connected_gene': 'DUPD1', 'score': 9.41}, {'connected_gene': 'COMTD1', 'score': 0.44}]
chr10 GH10I075238 75238161 75238564 0.74 [{'connected_gene': 'ZNF503-AS1', 'score': 31.02}, {'connected_gene': 'RPL39P25', 'score': 13.41}, {'connected_gene': 'HMGA1P5', 'score': 13.4}, {'connected_gene': 'DUPD1', 'score': 9.41}, {'connected_gene': 'COMTD1', 'score': 7.58}, {'connected_gene': 'VDAC2', 'score': 4.41}]
chr10 GH10I075254 75254164 75255783 0.64 [{'connected_gene': 'KAT6B', 'score': 12.37}, {'connected_gene': 'ZNF503-AS1', 'score': 11.26}, {'connected_gene': 'HMGA1P5', 'score': 5.35}, {'connected_gene': 'RPL39P25', 'score': 0.39}, {'connected_gene': 'COMTD1', 'score': 0.37}]
chr10 GH10I075232 75232985 75236622 2.27 [{'connected_gene': 'COMTD1', 'score': 557.8}, {'connected_gene': 'DUSP13', 'score': 13.71}, {'connected_gene': 'KAT6B', 'score': 13.31}, {'connected_gene': 'ZNF503-AS1', 'score': 4.81}, {'connected_gene': 'VDAC2', 'score': 0.34}]
chr10 GH10I075156 75156636 75157042 0.25 [{'connected_gene': 'COMTD1', 'score': 5.81}, {'connected_gene': 'SAMD8', 'score': 2.53}, {'connected_gene': 'KAT6B', 'score': 2.08}, {'connected_gene': 'GC10P075147', 'score': 0.44}, {'connected_gene': 'PIR60449', 'score': 0.44}, {'connected_gene': 'PIR38247', 'score': 0.34}]
chr10 GH10I075168 75168403 75168552 0.83 [{'connected_gene': 'COMTD1', 'score': 5.83}, {'connected_gene': 'PIR38247', 'score': 0.39}, {'connected_gene': 'PIR60449', 'score': 0.37}, {'connected_gene': 'GC10P075147', 'score': 0.34}, {'connected_gene': 'SAMD8', 'score': 0.2}]
chr10 GH10I075240 75240015 75241231 0.58 [{'connected_gene': 'RPL39P25', 'score': 13.43}, {'connected_gene': 'ZNF503-AS1', 'score': 13.43}, {'connected_gene': 'HMGA1P5', 'score': 13.4}, {'connected_gene': 'DUPD1', 'score': 9.41}, {'connected_gene': 'COMTD1', 'score': 0.77}]
chr10 GH10I075638 75638629 75638827 0.58 [{'connected_gene': 'GC10P075638', 'score': 550.77}, {'connected_gene': 'MIR606', 'score': 10.65}, {'connected_gene': 'LRMDA', 'score': 9.67}, {'connected_gene': 'ENSG00000236842', 'score': 9.67}, {'connected_gene': 'COMTD1', 'score': 4.39}, {'connected_gene': 'ENSG00000268659', 'score': 0.77}, {'connected_gene': 'GC10P075624', 'score': 0.39}]