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
ENST00000316649 [[137321107, 137323492], [137325757, 137325897], [137329735, 137329880], [137330453, 137330629], [137332410, 137332589], [137338104, 137338240], [137365777, 137366101]] [[137322694, 137323492], [137325757, 137325897], [137329735, 137329880], [137330453, 137330629], [137332410, 137332589], [137338104, 137338240], [137365777, 137365865]]
ENST00000367748 [[137321107, 137323492], [137325757, 137325897], [137329735, 137329880], [137330453, 137330629], [137338104, 137338240], [137365777, 137366298]] [[137322694, 137323492], [137325757, 137325897], [137329735, 137329880], [137330453, 137330629], [137338104, 137338174]]
ENST00000541547 [[137322428, 137323492], [137325757, 137325897], [137329735, 137329880], [137330453, 137330629], [137332410, 137332589], [137338104, 137338240], [137365228, 137365411]] [[137322694, 137323492], [137325757, 137325897], [137329735, 137329880], [137330453, 137330629], [137332410, 137332589], [137338104, 137338181]]
ENST00000468393 [[137325757, 137325897], [137329735, 137329880], [137330453, 137330629], [137338104, 137338240], [137365777, 137366101]] None
ENST00000367746 [[137330024, 137330629], [137332410, 137332589], [137338104, 137338240], [137365777, 137366101]] [[137330402, 137330629], [137332410, 137332589], [137338104, 137338240], [137365777, 137365865]]
ENST00000461799 [[137359063, 137359268], [137365228, 137365385]] None
ENST00000460306 [[137359111, 137359268], [137363921, 137364095], [137365777, 137366101]] None
NM_001278722 [[137321107, 137323492], [137325757, 137325897], [137329735, 137329880], [137330453, 137330629], [137332410, 137332589], [137338104, 137338240], [137365228, 137365449]] [[137322694, 137323492], [137325757, 137325897], [137329735, 137329880], [137330453, 137330629], [137332410, 137332589], [137338104, 137338181]]
NM_014432 [[137321107, 137323492], [137325757, 137325897], [137329735, 137329880], [137330453, 137330629], [137332410, 137332589], [137338104, 137338240], [137365777, 137366317]] [[137322694, 137323492], [137325757, 137325897], [137329735, 137329880], [137330453, 137330629], [137332410, 137332589], [137338104, 137338240], [137365777, 137365865]]
NM_001278723 [[137321107, 137323492], [137325757, 137325897], [137329735, 137329880], [137330453, 137330629], [137338104, 137338240], [137365777, 137366317]] [[137322694, 137323492], [137325757, 137325897], [137329735, 137329880], [137330453, 137330629], [137338104, 137338174]]
NM_001278724 [[137321107, 137323492], [137325757, 137325897], [137329735, 137329880], [137330453, 137330563], [137338104, 137338240], [137365777, 137366317]] [[137322694, 137323492], [137325757, 137325897], [137329735, 137329880], [137330453, 137330563], [137338104, 137338174]]
Promoter
Chrom Start End Description
chr6 137365402 137365416 CAGE_peak_8_at_IL20RA_5end
chr6 137365847 137365891 CAGE_peak_1_at_IL20RA_5end
chr6 137366096 137366111 CAGE_peak_2_at_IL20RA_5end
chr6 137366163 137366174 CAGE_peak_3_at_IL20RA_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I137013 137013136 137014433 0.6 [{'connected_gene': 'BCLAF1', 'score': 13.19}, {'connected_gene': 'IL20RA', 'score': 12.18}, {'connected_gene': 'GC06P137009', 'score': 0.77}]
chr6 GH06I137043 137043801 137045356 1.77 [{'connected_gene': 'IL20RA', 'score': 557.94}, {'connected_gene': 'BCLAF1', 'score': 17.95}, {'connected_gene': 'GC06P137009', 'score': 0.28}]
chr6 GH06I136958 136958054 136958502 0.2 [{'connected_gene': 'IL20RA', 'score': 4.65}, {'connected_gene': 'RPL35AP3', 'score': 0.37}, {'connected_gene': 'ENSG00000207247', 'score': 0.34}]
chr6 GH06I136955 136955717 136958032 0.76 [{'connected_gene': 'IL20RA', 'score': 4.96}, {'connected_gene': 'RPL35AP3', 'score': 0.37}, {'connected_gene': 'ENSG00000207247', 'score': 0.34}]
chr6 GH06I136989 136989084 136990553 1.18 [{'connected_gene': 'IL20RA', 'score': 9.51}, {'connected_gene': 'SLC35D3', 'score': 1.43}, {'connected_gene': 'NHEG1', 'score': 0.77}, {'connected_gene': 'RPL35AP3', 'score': 0.37}]
chr6 GH06I137024 137024088 137028222 0.78 [{'connected_gene': 'IL20RA', 'score': 18.29}, {'connected_gene': 'ENSG00000235399', 'score': 12.04}, {'connected_gene': 'NHEG1', 'score': 12.04}, {'connected_gene': 'GC06P137009', 'score': 0.37}]
chr6 GH06I137051 137051576 137052573 0.38 [{'connected_gene': 'IL20RA', 'score': 7.06}, {'connected_gene': 'GC06P137009', 'score': 0.26}, {'connected_gene': 'GC06P137115', 'score': 0.21}]
chr6 GH06I137034 137034004 137034153 0.8 [{'connected_gene': 'IL20RA', 'score': 0.39}, {'connected_gene': 'GC06P137009', 'score': 0.34}]
chr6 GH06I137036 137036984 137037133 0.46 [{'connected_gene': 'IL20RA', 'score': 0.44}, {'connected_gene': 'GC06P137009', 'score': 0.31}]
chr6 GH06I136920 136920755 136924140 1.76 [{'connected_gene': 'SLC35D3', 'score': 569.98}, {'connected_gene': 'GC06M136918', 'score': 550.77}, {'connected_gene': 'BCLAF1', 'score': 17.96}, {'connected_gene': 'PEX7', 'score': 5.86}, {'connected_gene': 'IL20RA', 'score': 4.16}, {'connected_gene': 'ENSG00000207247', 'score': 0.39}]
chr6 GH06I137092 137092004 137092153 0.31 [{'connected_gene': 'OLIG3', 'score': 10.11}, {'connected_gene': 'GC06P137115', 'score': 0.34}, {'connected_gene': 'IL20RA', 'score': 0.25}]
chr6 GH06I137093 137093313 137094613 1.01 [{'connected_gene': 'OLIG3', 'score': 9.48}, {'connected_gene': 'GC06P137115', 'score': 0.34}, {'connected_gene': 'IL20RA', 'score': 0.25}]
chr6 GH06I137076 137076624 137076813 0.79 [{'connected_gene': 'OLIG3', 'score': 9.64}, {'connected_gene': 'IL20RA', 'score': 0.29}, {'connected_gene': 'GC06P137115', 'score': 0.28}]
chr6 GH06I137094 137094895 137096700 1.26 [{'connected_gene': 'IL22RA2', 'score': 11.77}, {'connected_gene': 'IL20RA', 'score': 5.93}, {'connected_gene': 'GC06P137115', 'score': 0.34}]
chr6 GH06I137097 137097179 137097305 0.77 [{'connected_gene': 'IL22RA2', 'score': 11.77}, {'connected_gene': 'GC06P137115', 'score': 0.37}, {'connected_gene': 'IL20RA', 'score': 0.23}]
chr6 GH06I137098 137098966 137107962 1.24 [{'connected_gene': 'IL22RA2', 'score': 11.5}, {'connected_gene': 'IFNGR1', 'score': 11.29}, {'connected_gene': 'OLIG3', 'score': 9.38}, {'connected_gene': 'GC06P137115', 'score': 0.39}, {'connected_gene': 'IL20RA', 'score': 0.22}]
chr6 GH06I136968 136968800 136970633 0.76 [{'connected_gene': 'NHEG1', 'score': 12.39}, {'connected_gene': 'ENSG00000235399', 'score': 12.36}, {'connected_gene': 'IL20RA', 'score': 8.5}, {'connected_gene': 'RPL35AP3', 'score': 0.77}, {'connected_gene': 'ENSG00000207247', 'score': 0.29}]
chr6 GH06I137000 137000767 137002027 0.97 [{'connected_gene': 'ENSG00000235399', 'score': 0.44}, {'connected_gene': 'GC06P137009', 'score': 0.44}, {'connected_gene': 'IL20RA', 'score': 0.26}]
chr6 GH06I137015 137015518 137017625 0.2 [{'connected_gene': 'ENSG00000235399', 'score': 11.58}, {'connected_gene': 'NHEG1', 'score': 11.58}, {'connected_gene': 'IL20RA', 'score': 5.58}, {'connected_gene': 'GC06P137009', 'score': 0.44}]