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
ENST00000521831 [[57124244, 57124396], [57127156, 57127226], [57128947, 57129090], [57129889, 57130097]] [[57127172, 57127226], [57128947, 57129064]]
ENST00000355315 [[57124313, 57124396], [57127156, 57127226], [57128991, 57129090], [57129889, 57131172]] [[57127172, 57127226], [57128991, 57129090], [57129889, 57129994]]
ENST00000303759 [[57124314, 57124396], [57125320, 57125468], [57127156, 57127226], [57128991, 57129090], [57129889, 57131174]] [[57125409, 57125468], [57127156, 57127226], [57128991, 57129090], [57129889, 57129994]]
ENST00000518169 [[57124344, 57124396], [57125320, 57125710]] None
ENST00000522366 [[57124347, 57124396], [57127156, 57128137]] None
ENST00000517636 [[57124347, 57124733], [57127156, 57127226], [57128991, 57129071]] [[57127172, 57127226], [57128991, 57129071]]
ENST00000517933 [[57124347, 57124396], [57127156, 57127226], [57128991, 57129452]] [[57127172, 57127226], [57128991, 57129120]]
ENST00000523532 [[57124347, 57124396], [57125320, 57125468], [57127156, 57127226], [57128947, 57129090], [57129238, 57129313], [57129889, 57129971]] [[57125457, 57125468], [57127156, 57127226], [57128947, 57129064]]
ENST00000523667 [[57124347, 57124396], [57125320, 57125468], [57127156, 57127226], [57128947, 57129065], [57129238, 57129313], [57129889, 57129988]] [[57125457, 57125468], [57127156, 57127226]]
ENST00000521982 [[57124347, 57124396], [57125320, 57125468], [57127156, 57127226], [57128991, 57129090], [57129238, 57129313], [57129889, 57130000]] [[57125457, 57125468], [57127156, 57127226], [57128991, 57129090], [57129238, 57129244]]
ENST00000522166 [[57124347, 57127226], [57128947, 57129090], [57129889, 57130024]] None
ENST00000518801 [[57124356, 57124396], [57125320, 57125448], [57127156, 57127226], [57128947, 57129090], [57129889, 57131178]] [[57125428, 57125448], [57127156, 57127226], [57128947, 57129064]]
ENST00000523975 [[57124356, 57124396], [57125320, 57125448], [57127156, 57127226], [57128991, 57129090], [57129889, 57131357]] [[57125428, 57125448], [57127156, 57127226], [57128991, 57129090], [57129889, 57129994]]
ENST00000396723 [[57124357, 57124396], [57125320, 57125468], [57127156, 57127226], [57128991, 57129090], [57129889, 57131083]] [[57125457, 57125468], [57127156, 57127226], [57128991, 57129090], [57129889, 57129994]]
ENST00000523061 [[57124366, 57124396], [57127156, 57127226], [57128991, 57129065], [57129889, 57130272]] [[57127172, 57127226], [57128991, 57129065], [57129889, 57129902]]
ENST00000521524 [[57124368, 57124396], [57125320, 57125448], [57127156, 57127226], [57128947, 57129065], [57129889, 57130248]] [[57125428, 57125448], [57127156, 57127226]]
ENST00000519367 [[57126986, 57127076], [57127156, 57127226], [57128947, 57129090], [57129889, 57130028]] [[57127172, 57127226], [57128947, 57129064]]
ENST00000518944 [[57127003, 57127226], [57128991, 57129090], [57129889, 57130149]] None
NR_133937 [[57124196, 57124396], [57127156, 57127222], [57128947, 57129090], [57129889, 57131357]] None
NM_001317859 [[57124196, 57124396], [57127156, 57127226], [57128991, 57129065], [57129889, 57131357]] [[57127172, 57127226], [57128991, 57129065], [57129889, 57129902]]
NM_001011671 [[57124196, 57124396], [57127156, 57127226], [57128991, 57129090], [57129889, 57131357]] [[57127172, 57127226], [57128991, 57129090], [57129889, 57129994]]
NM_001011670 [[57124196, 57124396], [57127156, 57127226], [57128947, 57129090], [57129889, 57131357]] [[57127172, 57127226], [57128947, 57129064]]
NM_024300 [[57124196, 57124396], [57125320, 57125448], [57127156, 57127226], [57128991, 57129090], [57129889, 57131357]] [[57125428, 57125448], [57127156, 57127226], [57128991, 57129090], [57129889, 57129994]]
NM_001317858 [[57124196, 57124396], [57125320, 57125448], [57127156, 57127226], [57128947, 57129065], [57129889, 57131357]] [[57125428, 57125448], [57127156, 57127226]]
NM_001011669 [[57124196, 57124396], [57125320, 57125448], [57127156, 57127226], [57128947, 57129090], [57129889, 57131357]] [[57125428, 57125448], [57127156, 57127226], [57128947, 57129064]]
NM_001011668 [[57124196, 57124396], [57125320, 57125468], [57127156, 57127226], [57128991, 57129090], [57129889, 57131357]] [[57125409, 57125468], [57127156, 57127226], [57128991, 57129090], [57129889, 57129994]]
NR_133936 [[57124196, 57124396], [57125320, 57125468], [57127156, 57127226], [57128991, 57129090], [57129238, 57129313], [57129889, 57131357]] None
NR_133935 [[57124196, 57124396], [57125320, 57125468], [57127156, 57127226], [57128947, 57129065], [57129238, 57129313], [57129889, 57131357]] None
NM_001011667 [[57124196, 57124396], [57125320, 57125468], [57127156, 57127226], [57128947, 57129090], [57129889, 57131357]] [[57125409, 57125468], [57127156, 57127226], [57128947, 57129064]]
NR_133934 [[57124196, 57124396], [57125320, 57125468], [57127156, 57127226], [57128947, 57129090], [57129238, 57129313], [57129889, 57131357]] None
Promoter
Chrom Start End Description
chr8 57124339 57124355 CAGE_peak_1_at_CHCHD7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I056242 56242042 56242191 0.7 [{'connected_gene': 'CHCHD7', 'score': 11.6}, {'connected_gene': 'PLAG1', 'score': 11.6}, {'connected_gene': 'RPS20', 'score': 4.52}, {'connected_gene': 'PIR62677', 'score': 0.39}, {'connected_gene': 'ENSG00000254216', 'score': 0.39}]
chr8 GH08I056173 56173257 56174502 0.49 [{'connected_gene': 'CHCHD7', 'score': 11.6}, {'connected_gene': 'PLAG1', 'score': 11.6}, {'connected_gene': 'MOS', 'score': 11.24}, {'connected_gene': 'GC08M056160', 'score': 0.44}, {'connected_gene': 'GC08M056122', 'score': 0.23}, {'connected_gene': 'ENSG00000221093', 'score': 0.23}]
chr8 GH08I056168 56167992 56168433 0.4 [{'connected_gene': 'CHCHD7', 'score': 10.84}, {'connected_gene': 'PLAG1', 'score': 10.84}, {'connected_gene': 'MOS', 'score': 10.78}, {'connected_gene': 'GC08M056160', 'score': 0.39}, {'connected_gene': 'GC08M056122', 'score': 0.25}, {'connected_gene': 'ENSG00000221093', 'score': 0.25}]
chr8 GH08I056209 56209273 56213001 2.03 [{'connected_gene': 'CHCHD7', 'score': 556.05}, {'connected_gene': 'PLAG1', 'score': 550.77}, {'connected_gene': 'TGS1', 'score': 13.22}, {'connected_gene': 'RPS20', 'score': 7.04}, {'connected_gene': 'GC08M056160', 'score': 0.31}]
chr8 GH08I056167 56167222 56167371 0.31 [{'connected_gene': 'MOS', 'score': 10.88}, {'connected_gene': 'CHCHD7', 'score': 10.84}, {'connected_gene': 'PLAG1', 'score': 10.84}, {'connected_gene': 'GC08M056160', 'score': 0.37}, {'connected_gene': 'GC08M056122', 'score': 0.25}, {'connected_gene': 'ENSG00000221093', 'score': 0.25}]
chr8 GH08I056220 56220582 56220731 0.49 [{'connected_gene': 'ENSG00000272343', 'score': 0.77}, {'connected_gene': 'CHCHD7', 'score': 0.44}]

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