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
ENST00000367166 [[155578642, 155579216], [155581406, 155581534], [155606291, 155606411], [155618086, 155618238], [155619610, 155619719], [155632321, 155632473], [155635429, 155635618]] [[155578969, 155579216], [155581406, 155581534], [155606291, 155606411], [155618086, 155618238], [155619610, 155619719], [155632321, 155632473], [155635429, 155635562]]
ENST00000468889 [[155578786, 155579042], [155581406, 155581534], [155606291, 155606411], [155618086, 155618203]] None
ENST00000470239 [[155578806, 155579042], [155632465, 155632473], [155635429, 155635618]] None
ENST00000495806 [[155579110, 155579216], [155581406, 155581702], [155606291, 155606333]] None
ENST00000489874 [[155581956, 155582101], [155606291, 155606411], [155618086, 155618238], [155619610, 155619719], [155620639, 155620676]] None
ENST00000487586 [[155618094, 155618238], [155619610, 155619719], [155624307, 155624632]] None
ENST00000475849 [[155618214, 155618238], [155619610, 155619719], [155632321, 155632473], [155634271, 155634378], [155635429, 155635627]] None
ENST00000480390 [[155631979, 155632473], [155635429, 155635584]] None
ENST00000466349 [[155632310, 155632473], [155635250, 155635561]] None
NM_016020 [[155577263, 155579216], [155581406, 155581534], [155606291, 155606411], [155618086, 155618238], [155619610, 155619719], [155632321, 155632473], [155635429, 155635617]] [[155578969, 155579216], [155581406, 155581534], [155606291, 155606411], [155618086, 155618238], [155619610, 155619719], [155632321, 155632473], [155635429, 155635562]]
Promoter
Chrom Start End Description
chr6 155635583 155635644 CAGE_peak_1_at_TFB1M_5end
chr6 155635647 155635658 CAGE_peak_2_at_TFB1M_5end
chr6 155635818 155635834 CAGE_peak_4_at_TFB1M_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I155340 155340525 155341801 0.85 [{'connected_gene': 'TFB1M', 'score': 11.01}, {'connected_gene': 'NOX3', 'score': 9.37}, {'connected_gene': 'GC06M155324', 'score': 0.34}, {'connected_gene': 'GC06P154934', 'score': 0.05}]
chr6 GH06I155212 155212120 155214025 0.38 [{'connected_gene': 'TFB1M', 'score': 6.77}, {'connected_gene': 'ENSG00000235381', 'score': 5.85}, {'connected_gene': 'TIAM2', 'score': 4.83}, {'connected_gene': 'LOC100421330', 'score': 0.08}, {'connected_gene': 'GC06P154934', 'score': 0.06}]
chr6 GH06I155312 155312924 155317016 2.32 [{'connected_gene': 'TFB1M', 'score': 568.32}, {'connected_gene': 'SCAF8', 'score': 35.66}, {'connected_gene': 'ENSG00000235381', 'score': 20.29}, {'connected_gene': 'TIAM2', 'score': 6.62}, {'connected_gene': 'GC06M155324', 'score': 0.25}, {'connected_gene': 'GC06P154934', 'score': 0.05}]
chr6 GH06I155348 155348881 155349998 0.2 [{'connected_gene': 'TFB1M', 'score': 11.26}, {'connected_gene': 'GC06M155324', 'score': 0.39}, {'connected_gene': 'GC06P154934', 'score': 0.05}]
chr6 GH06I155327 155327444 155330540 1.14 [{'connected_gene': 'TFB1M', 'score': 13.92}, {'connected_gene': 'ENSG00000235381', 'score': 5.52}, {'connected_gene': 'GC06M155324', 'score': 0.29}, {'connected_gene': 'GC06P154934', 'score': 0.05}]
chr6 GH06I155487 155487866 155488021 0.68 [{'connected_gene': 'NOX3', 'score': 11.58}, {'connected_gene': 'TFB1M', 'score': 2.19}, {'connected_gene': 'TIAM2', 'score': 1.68}, {'connected_gene': 'GC06P155491', 'score': 0.77}, {'connected_gene': 'GC06P155399', 'score': 0.17}]
chr6 GH06I155267 155267807 155268596 0.57 [{'connected_gene': 'CLDN20', 'score': 0.77}, {'connected_gene': 'TFB1M', 'score': 0.25}, {'connected_gene': 'GC06P154934', 'score': 0.06}]
chr6 GH06I155264 155264987 155265367 0.58 [{'connected_gene': 'CLDN20', 'score': 550.77}, {'connected_gene': 'ENSG00000235381', 'score': 11.31}, {'connected_gene': 'TIAM2', 'score': 11.28}, {'connected_gene': 'TFB1M', 'score': 0.25}, {'connected_gene': 'GC06P154934', 'score': 0.06}]
chr6 GH06I155261 155261493 155261929 0.49 [{'connected_gene': 'TIAM2', 'score': 6.29}, {'connected_gene': 'ENSG00000235381', 'score': 0.77}, {'connected_gene': 'CLDN20', 'score': 0.77}, {'connected_gene': 'TFB1M', 'score': 0.23}, {'connected_gene': 'GC06P154934', 'score': 0.05}]
chr6 GH06I155309 155309453 155311878 0.69 [{'connected_gene': 'ENSG00000235381', 'score': 19.84}, {'connected_gene': 'TFB1M', 'score': 9.06}, {'connected_gene': 'CLDN20', 'score': 0.25}, {'connected_gene': 'GC06P154934', 'score': 0.05}]
chr6 GH06I155319 155319601 155320400 0.43 [{'connected_gene': 'ENSG00000235381', 'score': 6.43}, {'connected_gene': 'TFB1M', 'score': 0.44}, {'connected_gene': 'GC06M155324', 'score': 0.26}, {'connected_gene': 'GC06P154934', 'score': 0.05}]
chr6 GH06I155352 155352927 155353076 0.31 [{'connected_gene': 'GC06M155324', 'score': 0.44}, {'connected_gene': 'TFB1M', 'score': 0.28}, {'connected_gene': 'GC06P154934', 'score': 0.05}]
chr6 GH06I155399 155399172 155399750 1.19 [{'connected_gene': 'GC06P155399', 'score': 550.77}, {'connected_gene': 'NOX3', 'score': 10.31}, {'connected_gene': 'TFB1M', 'score': 6.66}]
chr6 GH06I155271 155271912 155271985 0.59 [{'connected_gene': 'ENSG00000238963', 'score': 9.73}, {'connected_gene': 'CLDN20', 'score': 0.44}, {'connected_gene': 'TFB1M', 'score': 0.26}, {'connected_gene': 'GC06P154934', 'score': 0.05}]
chr6 GH06I155272 155272137 155275009 1 [{'connected_gene': 'ENSG00000235381', 'score': 37.56}, {'connected_gene': 'TIAM2', 'score': 11.28}, {'connected_gene': 'ENSG00000238963', 'score': 9.73}, {'connected_gene': 'TFB1M', 'score': 7.88}, {'connected_gene': 'CLDN20', 'score': 0.44}, {'connected_gene': 'GC06P154934', 'score': 0.05}]
chr6 GH06I155269 155269705 155271211 0.43 [{'connected_gene': 'ENSG00000235381', 'score': 22.09}, {'connected_gene': 'TIAM2', 'score': 10.24}, {'connected_gene': 'ENSG00000238963', 'score': 9.73}, {'connected_gene': 'TFB1M', 'score': 7.86}, {'connected_gene': 'CLDN20', 'score': 0.44}, {'connected_gene': 'GC06P154934', 'score': 0.05}]
chr6 GH06I155252 155252719 155254373 0.52 [{'connected_gene': 'ENSG00000235381', 'score': 36.39}, {'connected_gene': 'TIAM2', 'score': 11.3}, {'connected_gene': 'TFB1M', 'score': 0.21}, {'connected_gene': 'LOC100421330', 'score': 0.07}, {'connected_gene': 'GC06P154934', 'score': 0.06}]
chr6 GH06I155245 155245537 155249156 1.05 [{'connected_gene': 'ENSG00000235381', 'score': 36.91}, {'connected_gene': 'TIAM2', 'score': 11.32}, {'connected_gene': 'TFB1M', 'score': 0.2}, {'connected_gene': 'LOC100421330', 'score': 0.07}, {'connected_gene': 'GC06P154934', 'score': 0.06}]
chr6 GH06I155258 155258383 155260737 0.46 [{'connected_gene': 'ENSG00000235381', 'score': 37.96}, {'connected_gene': 'TIAM2', 'score': 11.41}, {'connected_gene': 'CLDN20', 'score': 0.77}, {'connected_gene': 'TFB1M', 'score': 0.23}, {'connected_gene': 'GC06P154934', 'score': 0.05}]