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
ENST00000313833 [[55738020, 55738255], [55817098, 55820327]] [[55817108, 55819244]]
ENST00000554940 [[55738140, 55738255], [55817120, 55817582]] None
ENST00000555087 [[55738871, 55739023], [55817098, 55817558]] None
ENST00000440021 [[55738871, 55738999], [55817098, 55819801]] [[55817108, 55819244]]
ENST00000557647 [[55738928, 55738999], [55784900, 55784987], [55817098, 55817268], [55821218, 55821303], [55821781, 55821802]] None
ENST00000555280 [[55817506, 55819588], [55821218, 55821303], [55821781, 55821940], [55828450, 55828636]] [[55817510, 55819244]]
NM_017943 [[55738020, 55738255], [55817098, 55820329]] [[55817108, 55819244]]
NM_152231 [[55738871, 55738999], [55817098, 55819801]] [[55817108, 55819244]]
Promoter
Chrom Start End Description
chr14 55738082 55738176 CAGE_peak_1_at_FBXO34_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I055249 55249476 55249756 0.43 [{'connected_gene': 'FBXO34', 'score': 11.84}, {'connected_gene': 'COX5AP1', 'score': 0.44}, {'connected_gene': 'GC14M054989', 'score': 0.05}]
chr14 GH14I055245 55245823 55245932 0.54 [{'connected_gene': 'FBXO34', 'score': 11.82}, {'connected_gene': 'COX5AP1', 'score': 0.77}, {'connected_gene': 'GC14M054989', 'score': 0.05}]
chr14 GH14I055070 55070602 55079189 1.57 [{'connected_gene': 'LGALS3', 'score': 18.85}, {'connected_gene': 'LOC105370509', 'score': 18.6}, {'connected_gene': 'MAPK1IP1L', 'score': 16.83}, {'connected_gene': 'FBXO34', 'score': 5.07}, {'connected_gene': 'ATG14', 'score': 2.33}, {'connected_gene': 'GC14M055058', 'score': 0.37}, {'connected_gene': 'GC14M055059', 'score': 0.37}, {'connected_gene': 'GC14M054989', 'score': 0.03}]
chr14 GH14I055097 55097057 55109751 1.83 [{'connected_gene': 'LGALS3', 'score': 40.72}, {'connected_gene': 'LOC105370509', 'score': 34.62}, {'connected_gene': 'MAPK1IP1L', 'score': 25.39}, {'connected_gene': 'ATG14', 'score': 16.8}, {'connected_gene': 'SOCS4', 'score': 13.23}, {'connected_gene': 'GCH1', 'score': 12.33}, {'connected_gene': 'DLGAP5', 'score': 11.3}, {'connected_gene': 'FBXO34', 'score': 8.13}, {'connected_gene': 'ENSG00000259318', 'score': 5.61}, {'connected_gene': 'GC14M055058', 'score': 0.26}, {'connected_gene': 'GC14M055059', 'score': 0.26}, {'connected_gene': 'GC14M054989', 'score': 0.04}]
chr14 GH14I055113 55113140 55134826 2.73 [{'connected_gene': 'LGALS3', 'score': 578.57}, {'connected_gene': 'LOC105370509', 'score': 40.15}, {'connected_gene': 'GCH1', 'score': 11.0}, {'connected_gene': 'FBXO34', 'score': 10.91}, {'connected_gene': 'DLGAP5', 'score': 10.77}, {'connected_gene': 'ATG14', 'score': 6.91}, {'connected_gene': 'ENSG00000259318', 'score': 5.86}, {'connected_gene': 'MAPK1IP1L', 'score': 3.36}, {'connected_gene': 'GC14M055058', 'score': 0.21}, {'connected_gene': 'GC14M055059', 'score': 0.21}, {'connected_gene': 'GC14M054989', 'score': 0.05}]
chr14 GH14I054848 54848034 54848155 0.24 [{'connected_gene': 'GCH1', 'score': 8.1}, {'connected_gene': 'MAPK1IP1L', 'score': 2.57}, {'connected_gene': 'FBXO34', 'score': 2.29}, {'connected_gene': 'LGALS3', 'score': 2.12}, {'connected_gene': 'GMFB', 'score': 1.94}, {'connected_gene': 'GC14P054860', 'score': 0.39}, {'connected_gene': 'PIR45415', 'score': 0.2}]
chr14 GH14I055265 55265254 55265580 0.84 [{'connected_gene': 'GCH1', 'score': 11.11}, {'connected_gene': 'FBXO34', 'score': 8.4}, {'connected_gene': 'LGALS3', 'score': 2.38}, {'connected_gene': 'MAPK1IP1L', 'score': 1.86}, {'connected_gene': 'LOC105370509', 'score': 0.44}, {'connected_gene': 'COX5AP1', 'score': 0.34}, {'connected_gene': 'GC14M054989', 'score': 0.06}]
chr14 GH14I054908 54908102 54908771 0.9 [{'connected_gene': 'GCH1', 'score': 12.62}, {'connected_gene': 'ATG14', 'score': 4.82}, {'connected_gene': 'GMFB', 'score': 4.31}, {'connected_gene': 'LGALS3', 'score': 2.72}, {'connected_gene': 'FBXO34', 'score': 2.33}, {'connected_gene': 'MAPK1IP1L', 'score': 1.66}, {'connected_gene': 'GC14P054912', 'score': 0.77}]
chr14 GH14I054782 54782401 54786078 1.37 [{'connected_gene': 'SAMD4A', 'score': 11.58}, {'connected_gene': 'GCH1', 'score': 10.07}, {'connected_gene': 'WDHD1', 'score': 4.17}, {'connected_gene': 'GMFB', 'score': 3.02}, {'connected_gene': 'FBXO34', 'score': 2.38}, {'connected_gene': 'LGALS3', 'score': 2.23}, {'connected_gene': 'MAPK1IP1L', 'score': 1.26}, {'connected_gene': 'PIR45415', 'score': 0.44}, {'connected_gene': 'GC14P054860', 'score': 0.19}]
chr14 GH14I055373 55373324 55375213 1.02 [{'connected_gene': 'LOC105370509', 'score': 25.25}, {'connected_gene': 'DLGAP5', 'score': 10.6}, {'connected_gene': 'ATG14', 'score': 3.32}, {'connected_gene': 'FBXO34', 'score': 3.23}, {'connected_gene': 'MAPK1IP1L', 'score': 1.83}, {'connected_gene': 'PIR34697', 'score': 0.44}, {'connected_gene': 'PIR35307', 'score': 0.44}, {'connected_gene': 'GC14M054989', 'score': 0.08}]
chr14 GH14I055270 55270665 55275600 2.09 [{'connected_gene': 'LOC105370509', 'score': 599.29}, {'connected_gene': 'FBXO34', 'score': 550.77}, {'connected_gene': 'LGALS3', 'score': 14.63}, {'connected_gene': 'ENSG00000259318', 'score': 5.84}, {'connected_gene': 'RPL34P28', 'score': 0.44}, {'connected_gene': 'GC14M054989', 'score': 0.06}]
chr14 GH14I055301 55301202 55305399 1.2 [{'connected_gene': 'LOC105370509', 'score': 43.57}, {'connected_gene': 'FBXO34', 'score': 12.68}, {'connected_gene': 'ENSG00000259318', 'score': 5.56}, {'connected_gene': 'GCH1', 'score': 5.11}, {'connected_gene': 'LGALS3', 'score': 3.16}, {'connected_gene': 'MAPK1IP1L', 'score': 2.52}, {'connected_gene': 'CHMP4BP1', 'score': 0.77}, {'connected_gene': 'ENSG00000258455', 'score': 0.28}, {'connected_gene': 'GC14M054989', 'score': 0.06}]
chr14 GH14I055332 55332111 55335693 0.89 [{'connected_gene': 'LOC105370509', 'score': 43.49}, {'connected_gene': 'FBXO34', 'score': 6.47}, {'connected_gene': 'ENSG00000259318', 'score': 5.62}, {'connected_gene': 'ENSG00000258455', 'score': 0.44}, {'connected_gene': 'CHMP4BP1', 'score': 0.28}, {'connected_gene': 'GC14M054989', 'score': 0.07}]
chr14 GH14I055353 55353189 55355352 0.6 [{'connected_gene': 'LOC105370509', 'score': 43.45}, {'connected_gene': 'ENSG00000259318', 'score': 5.68}, {'connected_gene': 'PIR42744', 'score': 0.77}, {'connected_gene': 'PIR52112', 'score': 0.39}, {'connected_gene': 'FBXO34', 'score': 0.18}, {'connected_gene': 'GC14M054989', 'score': 0.07}]
chr14 GH14I055326 55326964 55327455 0.46 [{'connected_gene': 'LOC105370509', 'score': 43.49}, {'connected_gene': 'ENSG00000259318', 'score': 5.68}, {'connected_gene': 'ENSG00000258455', 'score': 0.39}, {'connected_gene': 'CHMP4BP1', 'score': 0.31}, {'connected_gene': 'FBXO34', 'score': 0.22}, {'connected_gene': 'GC14M054989', 'score': 0.07}]
chr14 GH14I055315 55315687 55319669 0.59 [{'connected_gene': 'LOC105370509', 'score': 43.52}, {'connected_gene': 'ENSG00000259318', 'score': 5.59}, {'connected_gene': 'CHMP4BP1', 'score': 0.37}, {'connected_gene': 'ENSG00000258455', 'score': 0.34}, {'connected_gene': 'FBXO34', 'score': 0.25}, {'connected_gene': 'GC14M054989', 'score': 0.07}]
chr14 GH14I055310 55310298 55311813 0.2 [{'connected_gene': 'LOC105370509', 'score': 14.42}, {'connected_gene': 'ENSG00000259318', 'score': 5.58}, {'connected_gene': 'CHMP4BP1', 'score': 0.39}, {'connected_gene': 'ENSG00000258455', 'score': 0.31}, {'connected_gene': 'FBXO34', 'score': 0.28}, {'connected_gene': 'GC14M054989', 'score': 0.07}]
chr14 GH14I055336 55336059 55338761 0.49 [{'connected_gene': 'LOC105370509', 'score': 12.98}, {'connected_gene': 'ENSG00000259318', 'score': 5.63}, {'connected_gene': 'ENSG00000258455', 'score': 0.77}, {'connected_gene': 'CHMP4BP1', 'score': 0.28}, {'connected_gene': 'FBXO34', 'score': 0.2}, {'connected_gene': 'GC14M054989', 'score': 0.07}]
chr14 GH14I055277 55277125 55278946 0.82 [{'connected_gene': 'LOC105370509', 'score': 14.07}, {'connected_gene': 'RPL34P28', 'score': 0.77}, {'connected_gene': 'FBXO34', 'score': 0.44}, {'connected_gene': 'GC14M054989', 'score': 0.06}]
chr14 GH14I055311 55310216 55310292 0.2 [{'connected_gene': 'CHMP4BP1', 'score': 0.39}, {'connected_gene': 'ENSG00000258455', 'score': 0.31}, {'connected_gene': 'FBXO34', 'score': 0.28}, {'connected_gene': 'GC14M054989', 'score': 0.06}]
chr14 GH14I055297 55297801 55298798 0.77 [{'connected_gene': 'CHMP4BP1', 'score': 550.77}, {'connected_gene': 'LOC105370509', 'score': 43.59}, {'connected_gene': 'FBXO34', 'score': 12.01}, {'connected_gene': 'DLGAP5', 'score': 10.61}, {'connected_gene': 'ENSG00000259318', 'score': 5.56}, {'connected_gene': 'ENSG00000278818', 'score': 0.39}, {'connected_gene': 'GC14M054989', 'score': 0.06}]
chr14 GH14I055299 55299221 55299570 0.22 [{'connected_gene': 'CHMP4BP1', 'score': 550.77}, {'connected_gene': 'LOC105370509', 'score': 13.96}, {'connected_gene': 'GCH1', 'score': 1.45}, {'connected_gene': 'FBXO34', 'score': 0.31}, {'connected_gene': 'ENSG00000258455', 'score': 0.26}, {'connected_gene': 'GC14M054989', 'score': 0.06}]
chr14 GH14I055357 55357043 55357192 0.66 [{'connected_gene': 'PIR52112', 'score': 0.44}, {'connected_gene': 'PIR42744', 'score': 0.44}, {'connected_gene': 'FBXO34', 'score': 0.17}, {'connected_gene': 'GC14M054989', 'score': 0.08}]
chr14 GH14I055349 55349041 55349349 0.38 [{'connected_gene': 'PIR42744', 'score': 550.77}, {'connected_gene': 'LOC105370509', 'score': 22.36}, {'connected_gene': 'ENSG00000259318', 'score': 5.67}, {'connected_gene': 'ENSG00000258455', 'score': 0.44}, {'connected_gene': 'FBXO34', 'score': 0.18}, {'connected_gene': 'GC14M054989', 'score': 0.07}]
chr14 GH14I055306 55306454 55307497 0.63 [{'connected_gene': 'ENSG00000259318', 'score': 5.57}, {'connected_gene': 'CHMP4BP1', 'score': 0.44}, {'connected_gene': 'ENSG00000258455', 'score': 0.29}, {'connected_gene': 'FBXO34', 'score': 0.28}, {'connected_gene': 'GC14M054989', 'score': 0.06}]