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
ENST00000404209 [[43256837, 43257528], [43258484, 43258739], [43259139, 43259418], [43262153, 43262432], [43268067, 43268433], [43269669, 43269830]] [[43257511, 43257528], [43258484, 43258739], [43259139, 43259418], [43262153, 43262432], [43268067, 43268433], [43269669, 43269733]]
ENST00000466163 [[43256842, 43257528], [43258484, 43260276]] None
ENST00000600709 [[43256843, 43257528], [43258484, 43258739], [43262153, 43262432], [43262753, 43263047]] None
ENST00000406636 [[43256876, 43257528], [43258484, 43258739], [43259139, 43259418], [43262153, 43262432], [43269669, 43269814]] [[43257511, 43257528], [43258484, 43258739], [43259139, 43259418], [43262153, 43262432], [43269669, 43269733]]
ENST00000401467 [[43256878, 43257528], [43258484, 43258739], [43259139, 43259418], [43268067, 43268433], [43359707, 43359843]] [[43257511, 43257528], [43258484, 43258739], [43259139, 43259418], [43268067, 43268433], [43359707, 43359771]]
ENST00000306511 [[43258384, 43258739], [43259139, 43259418], [43262153, 43262432], [43268067, 43268433], [43269669, 43269831]] [[43258446, 43258739], [43259139, 43259418], [43262153, 43262432], [43268067, 43268433], [43269669, 43269733]]
ENST00000469260 [[43259139, 43259418], [43262153, 43262432], [43262753, 43263063], [43269669, 43269819]] None
ENST00000478387 [[43259143, 43259418], [43262153, 43262432], [43262753, 43263093], [43269669, 43269821]] [[43263034, 43263093], [43269669, 43269733]]
ENST00000593692 [[43267843, 43268433], [43269669, 43269815]] None
NM_001130167 [[43256838, 43257528], [43258484, 43258739], [43259139, 43259418], [43262153, 43262432], [43268067, 43268433], [43269669, 43269831]] [[43257511, 43257528], [43258484, 43258739], [43259139, 43259418], [43262153, 43262432], [43268067, 43268433], [43269669, 43269733]]
NM_001130168 [[43256838, 43257528], [43258484, 43258739], [43259139, 43259418], [43262153, 43262432], [43269669, 43269831]] [[43257511, 43257528], [43258484, 43258739], [43259139, 43259418], [43262153, 43262432], [43269669, 43269733]]
NM_182707 [[43258384, 43258739], [43259139, 43259418], [43262153, 43262432], [43268067, 43268433], [43269669, 43269831]] [[43258446, 43258739], [43259139, 43259418], [43262153, 43262432], [43268067, 43268433], [43269669, 43269733]]
Promoter
Chrom Start End Description
chr19 43269809 43269838 CAGE_peak_1_at_PSG8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I042917 42917884 42917943 0.5 [{'connected_gene': 'PSG6', 'score': 550.77}, {'connected_gene': 'PSG1', 'score': 0.28}]
chr19 GH19I042900 42900489 42901097 0.38 [{'connected_gene': 'PSG6', 'score': 0.37}, {'connected_gene': 'PSG1', 'score': 0.34}]
chr19 GH19I042896 42896913 42899461 0.49 [{'connected_gene': 'PSG4', 'score': 4.78}, {'connected_gene': 'PSG1', 'score': 0.37}, {'connected_gene': 'PSG6', 'score': 0.34}]
chr19 GH19I042830 42830909 42834093 0.74 [{'connected_gene': 'PSG4', 'score': 5.36}, {'connected_gene': 'ENSG00000231412', 'score': 4.28}, {'connected_gene': 'GC19P042828', 'score': 0.77}, {'connected_gene': 'PSG8', 'score': 0.34}]
chr19 GH19I042874 42874129 42877976 1.03 [{'connected_gene': 'PSG4', 'score': 5.17}, {'connected_gene': 'ENSG00000231412', 'score': 5.17}, {'connected_gene': 'MEGF8', 'score': 4.31}, {'connected_gene': 'PSG5', 'score': 2.02}, {'connected_gene': 'GC19P042872', 'score': 0.77}, {'connected_gene': 'PSG1', 'score': 0.77}]
chr19 GH19I042888 42888129 42888278 0.2 [{'connected_gene': 'PSG1', 'score': 0.44}, {'connected_gene': 'GC19P042872', 'score': 0.37}, {'connected_gene': 'PSG6', 'score': 0.29}]
chr19 GH19I042884 42884851 42885638 0.6 [{'connected_gene': 'PSG1', 'score': 0.44}, {'connected_gene': 'GC19P042872', 'score': 0.39}, {'connected_gene': 'PSG6', 'score': 0.29}]
chr19 GH19I042760 42760143 42763591 1.17 [{'connected_gene': 'PSG8', 'score': 15.87}, {'connected_gene': 'PSG5', 'score': 2.26}, {'connected_gene': 'CEACAM1', 'score': 1.43}, {'connected_gene': 'GC19M042749', 'score': 0.44}, {'connected_gene': 'PSG3', 'score': 0.34}]
chr19 GH19I042765 42765668 42765727 0.5 [{'connected_gene': 'PSG8', 'score': 550.17}, {'connected_gene': 'GC19M042749', 'score': 0.77}, {'connected_gene': 'PSG3', 'score': 0.31}]
chr19 GH19I042735 42735600 42738140 0.77 [{'connected_gene': 'PSG8', 'score': 10.41}, {'connected_gene': 'PSG3', 'score': 0.77}, {'connected_gene': 'PIR38528', 'score': 0.26}]
chr19 GH19I042879 42879670 42879729 0.5 [{'connected_gene': 'PSG1', 'score': 550.77}, {'connected_gene': 'GC19P042872', 'score': 0.44}]
chr19 GH19I042449 42449480 42451178 1.7 [{'connected_gene': 'LIPE', 'score': 22.07}, {'connected_gene': 'RNU4-60P', 'score': 11.94}, {'connected_gene': 'PSG8', 'score': 5.06}, {'connected_gene': 'CD177', 'score': 4.34}, {'connected_gene': 'CEACAM1', 'score': 1.26}, {'connected_gene': 'CXCL17', 'score': 0.44}, {'connected_gene': 'PIR51613', 'score': 0.39}, {'connected_gene': 'LIPE-AS1', 'score': 0.23}]
chr19 GH19I042440 42440289 42445617 2.03 [{'connected_gene': 'CXCL17', 'score': 559.05}, {'connected_gene': 'ZNF574', 'score': 14.47}, {'connected_gene': 'LIPE-AS1', 'score': 11.7}, {'connected_gene': 'CNFN', 'score': 9.76}, {'connected_gene': 'PSG8', 'score': 5.07}, {'connected_gene': 'ENSG00000268355', 'score': 4.95}, {'connected_gene': 'CD177', 'score': 4.82}, {'connected_gene': 'GC19P042435', 'score': 0.44}]
chr19 GH19I042849 42849760 42854049 1.16 [{'connected_gene': 'ZNF526', 'score': 12.78}, {'connected_gene': 'PSG4', 'score': 5.55}, {'connected_gene': 'ENSG00000231412', 'score': 4.65}, {'connected_gene': 'MEGF8', 'score': 4.05}, {'connected_gene': 'PSG10P', 'score': 0.77}, {'connected_gene': 'PSG8', 'score': 0.77}, {'connected_gene': 'GC19P042828', 'score': 0.34}]
chr19 GH19I042819 42819124 42821304 0.6 [{'connected_gene': 'PSG8-AS1', 'score': 550.77}, {'connected_gene': 'ZNF526', 'score': 17.32}, {'connected_gene': 'XRCC1', 'score': 10.61}, {'connected_gene': 'ZNF574', 'score': 9.85}, {'connected_gene': 'PSG4', 'score': 5.39}, {'connected_gene': 'CEACAMP6', 'score': 0.29}, {'connected_gene': 'PSG8', 'score': 0.28}]
chr19 GH19I042793 42793574 42794402 0.65 [{'connected_gene': 'ZNF576', 'score': 13.71}, {'connected_gene': 'PINLYP', 'score': 10.71}, {'connected_gene': 'IRGQ', 'score': 9.94}, {'connected_gene': 'CEACAMP6', 'score': 0.44}, {'connected_gene': 'PSG8-AS1', 'score': 0.31}, {'connected_gene': 'PSG8', 'score': 0.21}]
chr19 GH19I042889 42888573 42890984 0.82 [{'connected_gene': 'ENSG00000231412', 'score': 4.28}, {'connected_gene': 'PSG1', 'score': 0.44}, {'connected_gene': 'GC19P042872', 'score': 0.37}, {'connected_gene': 'PSG6', 'score': 0.31}]
chr19 GH19I042480 42480450 42481874 1.32 [{'connected_gene': 'GC19M042479', 'score': 550.77}, {'connected_gene': 'CXCL17', 'score': 7.71}, {'connected_gene': 'PSG8', 'score': 4.79}, {'connected_gene': 'ENSG00000268355', 'score': 4.35}, {'connected_gene': 'RNU4-60P', 'score': 0.44}, {'connected_gene': 'LIPE-AS1', 'score': 0.18}]