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
ENST00000168712 [[69587796, 69588253], [69588791, 69588895], [69589512, 69590171]] [[69588076, 69588253], [69588791, 69588895], [69589512, 69589852]]
ENST00000538040 [[69588116, 69588253], [69589512, 69589932]] None
NM_002007 [[69587796, 69588253], [69588791, 69588895], [69589512, 69590171]] [[69588076, 69588253], [69588791, 69588895], [69589512, 69589852]]
Promoter
Chrom Start End Description
chr11 69590101 69590112 CAGE_peak_1_at_FGF4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I069744 69744346 69745305 0.43 [{'connected_gene': 'FGF4', 'score': 12.13}, {'connected_gene': 'FGF3', 'score': 11.39}, {'connected_gene': 'ORAOV1', 'score': 10.55}, {'connected_gene': 'ANO1-AS1', 'score': 9.92}, {'connected_gene': 'LOC100129779', 'score': 0.44}, {'connected_gene': 'GC11M069658', 'score': 0.22}]
chr11 GH11I069733 69733433 69734330 0.49 [{'connected_gene': 'FGF4', 'score': 11.65}, {'connected_gene': 'FGF3', 'score': 11.56}, {'connected_gene': 'ORAOV1', 'score': 10.23}, {'connected_gene': 'LOC100129779', 'score': 0.77}, {'connected_gene': 'FGF19', 'score': 0.31}, {'connected_gene': 'GC11M069658', 'score': 0.2}]
chr11 GH11I069712 69712090 69713037 0.54 [{'connected_gene': 'FGF4', 'score': 11.87}, {'connected_gene': 'ORAOV1', 'score': 11.59}, {'connected_gene': 'FGF3', 'score': 11.1}, {'connected_gene': 'ANO1-AS1', 'score': 10.12}, {'connected_gene': 'FGF19', 'score': 0.44}, {'connected_gene': 'LOC100129779', 'score': 0.31}, {'connected_gene': 'GC11M069658', 'score': 0.16}]
chr11 GH11I069770 69770673 69770822 0.31 [{'connected_gene': 'FGF4', 'score': 0.77}, {'connected_gene': 'LOC100129779', 'score': 0.29}, {'connected_gene': 'GC11M069658', 'score': 0.29}]
chr11 GH11I069772 69772168 69772222 0.34 [{'connected_gene': 'FGF4', 'score': 7.03}, {'connected_gene': 'LOC100129779', 'score': 0.29}, {'connected_gene': 'GC11M069658', 'score': 0.29}]
chr11 GH11I069775 69775331 69775390 0.61 [{'connected_gene': 'FGF4', 'score': 550.77}, {'connected_gene': 'GC11M069658', 'score': 0.31}, {'connected_gene': 'LOC100129779', 'score': 0.28}]
chr11 GH11I069771 69771573 69771802 0.2 [{'connected_gene': 'FGF4', 'score': 0.77}, {'connected_gene': 'LOC100129779', 'score': 0.29}, {'connected_gene': 'GC11M069658', 'score': 0.29}]
chr11 GH11I069965 69965884 69966133 0.38 [{'connected_gene': 'FGF4', 'score': 5.39}, {'connected_gene': 'ENSG00000255191', 'score': 0.37}, {'connected_gene': 'ENSG00000260679', 'score': 0.28}]
chr11 GH11I069842 69842213 69842362 0.57 [{'connected_gene': 'FGF3', 'score': 12.57}, {'connected_gene': 'FGF4', 'score': 11.47}, {'connected_gene': 'FADD', 'score': 10.31}, {'connected_gene': 'ENSG00000254721', 'score': 10.31}, {'connected_gene': 'ENSG00000260348', 'score': 0.2}]
chr11 GH11I069843 69843193 69843322 0.2 [{'connected_gene': 'FGF3', 'score': 12.57}, {'connected_gene': 'FGF4', 'score': 11.47}, {'connected_gene': 'FADD', 'score': 10.31}, {'connected_gene': 'ENSG00000254721', 'score': 10.31}, {'connected_gene': 'ENSG00000260348', 'score': 0.2}]
chr11 GH11I069868 69868208 69868398 0.31 [{'connected_gene': 'FGF3', 'score': 11.57}, {'connected_gene': 'FGF4', 'score': 10.96}, {'connected_gene': 'ANO1-AS1', 'score': 9.81}, {'connected_gene': 'ENSG00000260348', 'score': 0.26}]
chr11 GH11I069867 69867853 69868002 0.64 [{'connected_gene': 'FGF3', 'score': 11.57}, {'connected_gene': 'FGF4', 'score': 10.96}, {'connected_gene': 'ANO1-AS1', 'score': 9.81}, {'connected_gene': 'ENSG00000260348', 'score': 0.26}]
chr11 GH11I069790 69790740 69792402 0.2 [{'connected_gene': 'FGF3', 'score': 5.15}, {'connected_gene': 'GC11M069658', 'score': 0.39}, {'connected_gene': 'FGF4', 'score': 0.37}]
chr11 GH11I070101 70101614 70110059 0.7 [{'connected_gene': 'ORAOV1', 'score': 14.19}, {'connected_gene': 'CTTN', 'score': 12.54}, {'connected_gene': 'ANO1', 'score': 6.43}, {'connected_gene': 'FGF4', 'score': 4.97}, {'connected_gene': 'ENSG00000255143', 'score': 0.34}]
chr11 GH11I069963 69963035 69963784 0.31 [{'connected_gene': 'ANO1-AS1', 'score': 10.49}, {'connected_gene': 'PPFIA1', 'score': 10.3}, {'connected_gene': 'FGF4', 'score': 9.69}, {'connected_gene': 'ANO1', 'score': 5.55}, {'connected_gene': 'ENSG00000255191', 'score': 0.34}, {'connected_gene': 'ENSG00000260679', 'score': 0.28}]
chr11 GH11I069962 69962355 69962504 0.69 [{'connected_gene': 'ANO1-AS1', 'score': 10.49}, {'connected_gene': 'PPFIA1', 'score': 10.3}, {'connected_gene': 'FGF4', 'score': 9.69}, {'connected_gene': 'ANO1', 'score': 4.36}, {'connected_gene': 'ENSG00000255191', 'score': 0.34}, {'connected_gene': 'ENSG00000260679', 'score': 0.28}]
chr11 GH11I070154 70154965 70161060 1.04 [{'connected_gene': 'ANO1-AS1', 'score': 11.49}, {'connected_gene': 'FGF4', 'score': 9.83}, {'connected_gene': 'ANO1', 'score': 7.38}, {'connected_gene': 'PPFIA1', 'score': 2.05}, {'connected_gene': 'CTTN', 'score': 1.85}, {'connected_gene': 'FADD', 'score': 1.5}, {'connected_gene': 'GC11P070167', 'score': 0.44}, {'connected_gene': 'LOC105369372', 'score': 0.37}]
chr11 GH11I069944 69944768 69944888 0.24 [{'connected_gene': 'ANO1-AS1', 'score': 10.57}, {'connected_gene': 'FGF4', 'score': 10.12}, {'connected_gene': 'ANO1', 'score': 4.43}, {'connected_gene': 'ENSG00000260679', 'score': 0.37}, {'connected_gene': 'ENSG00000255191', 'score': 0.26}]
chr11 GH11I069945 69943926 69944286 0.36 [{'connected_gene': 'ANO1-AS1', 'score': 10.57}, {'connected_gene': 'FGF4', 'score': 10.12}, {'connected_gene': 'ANO1', 'score': 3.3}, {'connected_gene': 'ENSG00000260679', 'score': 0.37}, {'connected_gene': 'ENSG00000255191', 'score': 0.26}]
chr11 GH11I069976 69976621 69980639 0.62 [{'connected_gene': 'ANO1-AS1', 'score': 10.02}, {'connected_gene': 'FGF4', 'score': 9.77}, {'connected_gene': 'ENSG00000255191', 'score': 0.44}, {'connected_gene': 'ENSG00000260679', 'score': 0.23}]
chr11 GH11I069981 69981975 69983899 0.68 [{'connected_gene': 'ANO1-AS1', 'score': 10.39}, {'connected_gene': 'FGF4', 'score': 9.88}, {'connected_gene': 'ENSG00000255191', 'score': 0.77}, {'connected_gene': 'ENSG00000260679', 'score': 0.22}]
chr11 GH11I069801 69801573 69801702 0.6 [{'connected_gene': 'GC11M069658', 'score': 550.77}, {'connected_gene': 'FGF4', 'score': 12.04}]
chr11 GH11I069799 69799653 69799802 0.78 [{'connected_gene': 'GC11M069658', 'score': 0.77}, {'connected_gene': 'FGF4', 'score': 0.34}]
chr11 GH11I069140 69140742 69140974 0.25 [{'connected_gene': 'PIR32022', 'score': 550.77}, {'connected_gene': 'PIR35792', 'score': 550.77}, {'connected_gene': 'MRGPRF-AS1', 'score': 10.49}, {'connected_gene': 'MRGPRF', 'score': 10.49}, {'connected_gene': 'ORAOV1', 'score': 9.97}, {'connected_gene': 'FGF4', 'score': 9.33}, {'connected_gene': 'TPCN2', 'score': 1.78}, {'connected_gene': 'GC11P069137', 'score': 0.77}]
chr11 GH11I069137 69137042 69139068 0.87 [{'connected_gene': 'GC11P069137', 'score': 550.77}, {'connected_gene': 'MRGPRF-AS1', 'score': 10.49}, {'connected_gene': 'MRGPRF', 'score': 10.49}, {'connected_gene': 'ORAOV1', 'score': 9.97}, {'connected_gene': 'FGF4', 'score': 9.33}, {'connected_gene': 'PIR35792', 'score': 0.77}, {'connected_gene': 'TPCN2', 'score': 0.17}]
chr11 GH11I069141 69141731 69142101 0.23 [{'connected_gene': 'PIR32022', 'score': 550.77}, {'connected_gene': 'PIR35792', 'score': 550.77}, {'connected_gene': 'MRGPRF-AS1', 'score': 10.49}, {'connected_gene': 'MRGPRF', 'score': 10.49}, {'connected_gene': 'ORAOV1', 'score': 9.97}, {'connected_gene': 'FGF4', 'score': 9.33}, {'connected_gene': 'TPCN2', 'score': 2.49}]