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
ENST00000528775 [[111934733, 111934945], [111941159, 111941425], [111941761, 111942007], [111942358, 111942482], [111943721, 111943898]] [[111934891, 111934945], [111941159, 111941425], [111941761, 111942007], [111942358, 111942482], [111943721, 111943898]]
ENST00000431456 [[111934736, 111934945], [111941159, 111941425], [111941761, 111942007], [111942358, 111942482], [111943721, 111943929], [111944703, 111944895]] [[111934891, 111934945], [111941159, 111941425], [111941761, 111942007], [111942358, 111942482], [111943721, 111943898]]
ENST00000532211 [[111938521, 111938729], [111941159, 111941425], [111941761, 111942007], [111942358, 111942482], [111943721, 111943929], [111944653, 111944704]] [[111938594, 111938729], [111941159, 111941425], [111941761, 111942007], [111942358, 111942482], [111943721, 111943898]]
ENST00000280350 [[111938524, 111938729], [111941159, 111941425], [111941761, 111942007], [111942358, 111942482], [111943721, 111943929], [111944703, 111944895]] [[111938594, 111938729], [111941159, 111941425], [111941761, 111942007], [111942358, 111942482], [111943721, 111943898]]
ENST00000525072 [[111938653, 111938729], [111941159, 111941425], [111941761, 111941956], [111942358, 111942482], [111943721, 111943815]] [[111938653, 111938729], [111941159, 111941425], [111941761, 111941956], [111942358, 111942482], [111943721, 111943815]]
ENST00000530641 [[111940460, 111941425], [111941761, 111942007], [111942358, 111942482], [111943721, 111943929], [111944703, 111944998]] [[111941150, 111941425], [111941761, 111942007], [111942358, 111942482], [111943721, 111943898]]
ENST00000525744 [[111941716, 111942007], [111942358, 111942482], [111943721, 111943793]] [[111941716, 111942007], [111942358, 111942482], [111943721, 111943793]]
ENST00000521853 [[111941855, 111942007], [111942358, 111942482], [111943462, 111943583], [111943721, 111943818]] None
NM_001082619 [[111934733, 111934945], [111941159, 111941425], [111941761, 111942007], [111942358, 111942482], [111943721, 111943929], [111944703, 111944895]] [[111934891, 111934945], [111941159, 111941425], [111941761, 111942007], [111942358, 111942482], [111943721, 111943898]]
NM_138789 [[111938521, 111938729], [111941159, 111941425], [111941761, 111942007], [111942358, 111942482], [111943721, 111943929], [111944703, 111944895]] [[111938594, 111938729], [111941159, 111941425], [111941761, 111942007], [111942358, 111942482], [111943721, 111943898]]
Promoter
Chrom Start End Description
chr11 111944716 111944774 CAGE_peak_1_at_PIH1D2_5end
chr11 111944963 111944974 CAGE_peak_4_at_PIH1D2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I111931 111931800 111932201 0.88 [{'connected_gene': 'FDXACB1', 'score': 10.67}, {'connected_gene': 'C11orf1', 'score': 10.67}, {'connected_gene': 'ALG9', 'score': 10.64}, {'connected_gene': 'NKAPD1', 'score': 10.41}, {'connected_gene': 'PIH1D2', 'score': 10.41}, {'connected_gene': 'ENSG00000255292', 'score': 9.92}, {'connected_gene': 'SDHD', 'score': 9.92}, {'connected_gene': 'TIMM8B', 'score': 9.92}, {'connected_gene': 'DIXDC1', 'score': 0.77}, {'connected_gene': 'RNA5SP351', 'score': 0.77}, {'connected_gene': 'ENSG00000255286', 'score': 0.39}]
chr11 GH11I112059 112059049 112059375 0.26 [{'connected_gene': 'DIXDC1', 'score': 1.6}, {'connected_gene': 'NKAPD1', 'score': 0.39}, {'connected_gene': 'PIH1D2', 'score': 0.37}, {'connected_gene': 'ENSG00000271025', 'score': 0.34}, {'connected_gene': 'DLAT', 'score': 0.29}]
chr11 GH11I111934 111934176 111945953 2.7 [{'connected_gene': 'DIXDC1', 'score': 550.39}, {'connected_gene': 'PPP2R1B', 'score': 16.64}, {'connected_gene': 'SDHD', 'score': 16.26}, {'connected_gene': 'C11orf52', 'score': 11.14}, {'connected_gene': 'HSPB2-C11orf52', 'score': 11.07}, {'connected_gene': 'HSPB2', 'score': 11.07}, {'connected_gene': 'ENSG00000255292', 'score': 10.69}, {'connected_gene': 'TIMM8B', 'score': 10.69}, {'connected_gene': 'FDXACB1', 'score': 10.66}, {'connected_gene': 'C11orf1', 'score': 10.64}, {'connected_gene': 'ALG9', 'score': 10.64}, {'connected_gene': 'NKAPD1', 'score': 10.42}, {'connected_gene': 'PIH1D2', 'score': 10.42}, {'connected_gene': 'PPIHP1', 'score': 4.51}, {'connected_gene': 'IL18', 'score': 1.2}, {'connected_gene': 'ENSG00000255286', 'score': 0.44}, {'connected_gene': 'RNA5SP351', 'score': 0.39}]
chr11 GH11I111986 111986451 111987341 0.31 [{'connected_gene': 'DIXDC1', 'score': 11.67}, {'connected_gene': 'RNA5SP351', 'score': 11.67}, {'connected_gene': 'NKAPD1', 'score': 10.51}, {'connected_gene': 'PIH1D2', 'score': 10.51}, {'connected_gene': 'CRYAB', 'score': 10.43}, {'connected_gene': 'C11orf52', 'score': 10.42}, {'connected_gene': 'PPIHP1', 'score': 9.56}, {'connected_gene': 'ENSG00000255334', 'score': 0.31}, {'connected_gene': 'ENSG00000255286', 'score': 0.26}]
chr11 GH11I112128 112128006 112130158 0.86 [{'connected_gene': 'BCO2', 'score': 28.11}, {'connected_gene': 'IL18', 'score': 11.38}, {'connected_gene': 'TEX12', 'score': 11.35}, {'connected_gene': 'ENSG00000255292', 'score': 11.33}, {'connected_gene': 'ENSG00000254638', 'score': 11.08}, {'connected_gene': 'SDHD', 'score': 11.08}, {'connected_gene': 'TIMM8B', 'score': 11.08}, {'connected_gene': 'NKAPD1', 'score': 10.48}, {'connected_gene': 'PIH1D2', 'score': 10.48}, {'connected_gene': 'CRYAB', 'score': 9.28}, {'connected_gene': 'HSPB2-C11orf52', 'score': 9.27}, {'connected_gene': 'HSPB2', 'score': 9.27}, {'connected_gene': 'C11orf52', 'score': 9.27}, {'connected_gene': 'DIXDC1', 'score': 8.86}]
chr11 GH11I111869 111869801 111870000 0.2 [{'connected_gene': 'ALG9', 'score': 550.77}, {'connected_gene': 'DIXDC1', 'score': 10.86}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.64}, {'connected_gene': 'HSPB2', 'score': 10.64}, {'connected_gene': 'C11orf52', 'score': 10.63}, {'connected_gene': 'CRYAB', 'score': 10.61}, {'connected_gene': 'NKAPD1', 'score': 9.57}, {'connected_gene': 'PIH1D2', 'score': 9.57}, {'connected_gene': 'GC11P111865', 'score': 0.44}, {'connected_gene': 'ENSG00000258529', 'score': 0.44}]
chr11 GH11I112113 112113401 112113800 0.94 [{'connected_gene': 'ALG9', 'score': 15.31}, {'connected_gene': 'NKAPD1', 'score': 14.43}, {'connected_gene': 'PIH1D2', 'score': 10.1}, {'connected_gene': 'LOC101928847', 'score': 9.72}, {'connected_gene': 'SDHD', 'score': 0.31}, {'connected_gene': 'ENSG00000255292', 'score': 0.31}, {'connected_gene': 'IL18', 'score': 0.23}]
chr11 GH11I111870 111870227 111872417 1.98 [{'connected_gene': 'ALG9', 'score': 550.77}, {'connected_gene': 'PPP2R1B', 'score': 13.87}, {'connected_gene': 'DIXDC1', 'score': 10.86}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.64}, {'connected_gene': 'HSPB2', 'score': 10.64}, {'connected_gene': 'C11orf52', 'score': 10.63}, {'connected_gene': 'CRYAB', 'score': 10.61}, {'connected_gene': 'NKAPD1', 'score': 9.57}, {'connected_gene': 'PIH1D2', 'score': 9.57}, {'connected_gene': 'GC11P111865', 'score': 0.44}, {'connected_gene': 'ENSG00000258529', 'score': 0.44}]
chr11 GH11I111877 111877797 111877906 0.52 [{'connected_gene': 'C11orf1', 'score': 550.77}, {'connected_gene': 'ENSG00000258529', 'score': 550.77}, {'connected_gene': 'C11orf52', 'score': 10.74}, {'connected_gene': 'DIXDC1', 'score': 10.73}, {'connected_gene': 'CRYAB', 'score': 10.73}, {'connected_gene': 'NKAPD1', 'score': 10.54}, {'connected_gene': 'PIH1D2', 'score': 10.54}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.54}, {'connected_gene': 'HSPB2', 'score': 10.54}, {'connected_gene': 'PPP2R1B', 'score': 9.84}, {'connected_gene': 'ENSG00000255292', 'score': 9.43}, {'connected_gene': 'FDXACB1', 'score': 0.77}, {'connected_gene': 'ALG9', 'score': 0.44}]
chr11 GH11I112073 112073088 112075399 2.08 [{'connected_gene': 'NKAPD1', 'score': 561.46}, {'connected_gene': 'PIH1D2', 'score': 550.77}, {'connected_gene': 'ALG9', 'score': 15.89}, {'connected_gene': 'PPP2R1B', 'score': 13.93}, {'connected_gene': 'NCAM1', 'score': 10.11}, {'connected_gene': 'SDHD', 'score': 5.16}, {'connected_gene': 'SIK2', 'score': 4.92}]
chr11 GH11I112041 112041989 112043379 0.76 [{'connected_gene': 'NKAPD1', 'score': 12.4}, {'connected_gene': 'PIH1D2', 'score': 12.4}, {'connected_gene': 'SDHD', 'score': 10.89}, {'connected_gene': 'ENSG00000255292', 'score': 10.89}, {'connected_gene': 'TIMM8B', 'score': 10.89}, {'connected_gene': 'DLAT', 'score': 10.33}, {'connected_gene': 'TEX12', 'score': 9.21}, {'connected_gene': 'ENSG00000271025', 'score': 0.44}]
chr11 GH11I112099 112099966 112101346 0.43 [{'connected_gene': 'NKAPD1', 'score': 11.59}, {'connected_gene': 'PIH1D2', 'score': 11.59}, {'connected_gene': 'TEX12', 'score': 10.33}, {'connected_gene': 'DIXDC1', 'score': 9.6}, {'connected_gene': 'CRYAB', 'score': 9.43}, {'connected_gene': 'C11orf52', 'score': 9.43}, {'connected_gene': 'HSPB2-C11orf52', 'score': 9.28}, {'connected_gene': 'HSPB2', 'score': 9.28}, {'connected_gene': 'SDHD', 'score': 4.4}, {'connected_gene': 'PPP2R1B', 'score': 4.37}, {'connected_gene': 'ENSG00000255292', 'score': 0.39}, {'connected_gene': 'IL18', 'score': 0.21}]
chr11 GH11I111850 111850127 111852645 0.57 [{'connected_gene': 'PPP2R1B', 'score': 28.07}, {'connected_gene': 'ALG9', 'score': 11.79}, {'connected_gene': 'FDXACB1', 'score': 11.08}, {'connected_gene': 'C11orf1', 'score': 11.08}, {'connected_gene': 'C11orf52', 'score': 10.29}, {'connected_gene': 'CRYAB', 'score': 10.28}, {'connected_gene': 'DIXDC1', 'score': 10.27}, {'connected_gene': 'NKAPD1', 'score': 10.02}, {'connected_gene': 'PIH1D2', 'score': 10.02}, {'connected_gene': 'LAYN', 'score': 9.91}, {'connected_gene': 'GNG5P3', 'score': 0.39}, {'connected_gene': 'ALG9-IT1', 'score': 0.34}, {'connected_gene': 'ENSG00000258529', 'score': 0.31}]
chr11 GH11I111764 111764384 111767647 2.16 [{'connected_gene': 'PPP2R1B', 'score': 567.62}, {'connected_gene': 'ALG9', 'score': 90.22}, {'connected_gene': 'NKAPD1', 'score': 22.97}, {'connected_gene': 'SIK2', 'score': 20.9}, {'connected_gene': 'ENSG00000255334', 'score': 11.61}, {'connected_gene': 'PIH1D2', 'score': 10.73}, {'connected_gene': 'LAYN', 'score': 9.7}, {'connected_gene': 'BTG4', 'score': 8.82}, {'connected_gene': 'C11orf88', 'score': 8.82}, {'connected_gene': 'MIR34C', 'score': 8.82}, {'connected_gene': 'MIR34B', 'score': 8.82}, {'connected_gene': 'PIR46070', 'score': 0.31}]
chr11 GH11I112103 112103201 112104000 0.2 [{'connected_gene': 'PPP2R1B', 'score': 12.61}, {'connected_gene': 'NKAPD1', 'score': 10.54}, {'connected_gene': 'PIH1D2', 'score': 10.54}, {'connected_gene': 'TEX12', 'score': 9.96}, {'connected_gene': 'CRYAB', 'score': 9.95}, {'connected_gene': 'C11orf52', 'score': 9.94}, {'connected_gene': 'HSPB2-C11orf52', 'score': 9.93}, {'connected_gene': 'HSPB2', 'score': 9.93}, {'connected_gene': 'ENSG00000255292', 'score': 0.37}, {'connected_gene': 'SDHD', 'score': 0.37}, {'connected_gene': 'IL18', 'score': 0.21}]
chr11 GH11I112931 112931065 112933136 0.31 [{'connected_gene': 'NCAM1', 'score': 11.22}, {'connected_gene': 'LOC101928847', 'score': 11.2}, {'connected_gene': 'RNU7-187P', 'score': 10.53}, {'connected_gene': 'NCAM1-AS1', 'score': 9.99}, {'connected_gene': 'PIH1D2', 'score': 5.08}, {'connected_gene': 'PIR45615', 'score': 0.25}]
chr11 GH11I112289 112289638 112294447 1.81 [{'connected_gene': 'LOC283140', 'score': 24.09}, {'connected_gene': 'RNU6-44P', 'score': 10.53}, {'connected_gene': 'ENSG00000255292', 'score': 10.02}, {'connected_gene': 'TEX12', 'score': 9.4}, {'connected_gene': 'NKAPD1', 'score': 9.32}, {'connected_gene': 'PIH1D2', 'score': 9.32}, {'connected_gene': 'BCO2', 'score': 4.33}, {'connected_gene': 'GC11M112270', 'score': 0.34}, {'connected_gene': 'GC11P112339', 'score': 0.25}]
chr11 GH11I112024 112023601 112023800 0.2 [{'connected_gene': 'DLAT', 'score': 550.77}, {'connected_gene': 'NKAPD1', 'score': 10.98}, {'connected_gene': 'PIH1D2', 'score': 10.98}, {'connected_gene': 'GC11M112018', 'score': 0.44}]
chr11 GH11I112023 112023864 112026400 2.09 [{'connected_gene': 'DLAT', 'score': 550.77}, {'connected_gene': 'PPP2R1B', 'score': 14.77}, {'connected_gene': 'FDXACB1', 'score': 12.73}, {'connected_gene': 'ALG9', 'score': 11.96}, {'connected_gene': 'NKAPD1', 'score': 11.31}, {'connected_gene': 'PIH1D2', 'score': 11.31}, {'connected_gene': 'DIXDC1', 'score': 11.01}, {'connected_gene': 'IL18', 'score': 10.97}, {'connected_gene': 'CRYAB', 'score': 10.46}, {'connected_gene': 'C11orf52', 'score': 10.46}, {'connected_gene': 'GC11M112030', 'score': 0.44}]
chr11 GH11I112016 112016121 112018103 1.04 [{'connected_gene': 'GC11M112018', 'score': 550.77}, {'connected_gene': 'ENSG00000255334', 'score': 550.77}, {'connected_gene': 'NKAPD1', 'score': 11.07}, {'connected_gene': 'PIH1D2', 'score': 11.07}, {'connected_gene': 'ENSG00000255292', 'score': 10.61}, {'connected_gene': 'SDHD', 'score': 10.61}, {'connected_gene': 'TIMM8B', 'score': 10.61}, {'connected_gene': 'FDXACB1', 'score': 10.22}, {'connected_gene': 'C11orf1', 'score': 10.22}, {'connected_gene': 'ALG9', 'score': 10.21}, {'connected_gene': 'DIXDC1', 'score': 0.17}]
chr11 GH11I112082 112082165 112084041 0.54 [{'connected_gene': 'PIR48704', 'score': 550.77}, {'connected_gene': 'RNA5SP351', 'score': 10.09}, {'connected_gene': 'DIXDC1', 'score': 10.09}, {'connected_gene': 'CRYAB', 'score': 10.01}, {'connected_gene': 'C11orf52', 'score': 10.01}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.0}, {'connected_gene': 'HSPB2', 'score': 10.0}, {'connected_gene': 'TEX12', 'score': 9.99}, {'connected_gene': 'PPP2R1B', 'score': 9.3}, {'connected_gene': 'SDHD', 'score': 5.57}, {'connected_gene': 'NKAPD1', 'score': 0.44}, {'connected_gene': 'PIH1D2', 'score': 0.44}]