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
ENST00000265857 [[916188, 916437], [925692, 925771], [926205, 926287], [927006, 927156], [930564, 930703], [931914, 932055], [933376, 933452], [933535, 933608], [934970, 936071]] [[916282, 916437], [925692, 925771], [926205, 926287], [927006, 927156], [930564, 930703], [931914, 932055], [933376, 933452], [933535, 933608], [934970, 935059]]
ENST00000412734 [[917541, 917964], [925692, 925771], [926205, 926287], [927006, 927156], [930564, 930703]] [[925696, 925771], [926205, 926287], [927006, 927156], [930564, 930703]]
ENST00000407192 [[923179, 925771], [926205, 926287], [927006, 927156], [930564, 930703], [931914, 932055], [933376, 933452], [933535, 933608], [934970, 936073]] [[925696, 925771], [926205, 926287], [927006, 927156], [930564, 930703], [931914, 932055], [933376, 933452], [933535, 933608], [934970, 935059]]
ENST00000441491 [[923660, 924031], [925692, 925771], [926205, 926287], [927006, 927156]] [[923840, 924031], [925692, 925771], [926205, 926287], [927006, 927156]]
ENST00000426056 [[926669, 926894], [927006, 927156], [930564, 930691]] [[926695, 926894], [927006, 927156], [930564, 930691]]
ENST00000483469 [[927122, 927156], [930564, 930703], [931914, 932111]] None
ENST00000464468 [[931936, 932055], [933376, 933608], [934970, 935295]] None
NM_015949 [[916190, 916437], [925692, 925771], [926205, 926287], [927006, 927156], [930564, 930703], [931914, 932055], [933376, 933452], [933535, 933608], [934970, 936071]] [[916282, 916437], [925692, 925771], [926205, 926287], [927006, 927156], [930564, 930703], [931914, 932055], [933376, 933452], [933535, 933608], [934970, 935059]]
Promoter
Chrom Start End Description
chr7 916183 916204 CAGE_peak_2_at_GET4_5end
chr7 916210 916272 CAGE_peak_1_at_GET4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I000971 971861 980626 2.71 [{'connected_gene': 'COX19', 'score': 559.81}, {'connected_gene': 'CYP2W1', 'score': 45.73}, {'connected_gene': 'LOC105375120', 'score': 22.3}, {'connected_gene': 'GPR146', 'score': 20.58}, {'connected_gene': 'DNAAF5', 'score': 15.14}, {'connected_gene': 'MIR339', 'score': 13.04}, {'connected_gene': 'ADAP1', 'score': 12.7}, {'connected_gene': 'ENSG00000225146', 'score': 11.64}, {'connected_gene': 'C7orf50', 'score': 11.5}, {'connected_gene': 'SUN1', 'score': 11.08}, {'connected_gene': 'LOC101927021', 'score': 9.4}, {'connected_gene': 'GPER1', 'score': 5.21}, {'connected_gene': 'GET4', 'score': 3.46}, {'connected_gene': 'PRKAR1B', 'score': 1.43}]
chr7 GH07I000881 881564 883413 0.84 [{'connected_gene': 'PRKAR1B', 'score': 15.27}, {'connected_gene': 'DNAAF5', 'score': 11.41}, {'connected_gene': 'ENSG00000273151', 'score': 0.77}, {'connected_gene': 'GET4', 'score': 0.44}, {'connected_gene': 'SUN1', 'score': 0.2}]
chr7 GH07I000865 865931 868637 1.24 [{'connected_gene': 'PRKAR1B', 'score': 15.69}, {'connected_gene': 'DNAAF5', 'score': 12.66}, {'connected_gene': 'ENSG00000273151', 'score': 9.37}, {'connected_gene': 'SUN1', 'score': 7.25}, {'connected_gene': 'PIR61037', 'score': 0.44}, {'connected_gene': 'GET4', 'score': 0.44}]
chr7 GH07I000887 887776 889798 0.46 [{'connected_gene': 'PRKAR1B', 'score': 13.85}, {'connected_gene': 'ENSG00000273151', 'score': 10.15}, {'connected_gene': 'SUN1', 'score': 7.7}, {'connected_gene': 'DNAAF5', 'score': 6.78}, {'connected_gene': 'GC07P000891', 'score': 0.77}, {'connected_gene': 'GET4', 'score': 0.39}]
chr7 GH07I000868 868912 870098 0.2 [{'connected_gene': 'DNAAF5', 'score': 12.66}, {'connected_gene': 'PRKAR1B', 'score': 12.36}, {'connected_gene': 'SUN1', 'score': 7.98}, {'connected_gene': 'ENSG00000273151', 'score': 6.53}, {'connected_gene': 'PIR61037', 'score': 0.44}, {'connected_gene': 'GET4', 'score': 0.44}]
chr7 GH07I000879 879812 881218 0.51 [{'connected_gene': 'DNAAF5', 'score': 10.22}, {'connected_gene': 'ENSG00000273151', 'score': 9.46}, {'connected_gene': 'SUN1', 'score': 5.64}, {'connected_gene': 'GET4', 'score': 0.77}]
chr7 GH07I000871 871995 879685 2.54 [{'connected_gene': 'GET4', 'score': 550.77}, {'connected_gene': 'DNAAF5', 'score': 96.81}, {'connected_gene': 'SUN1', 'score': 86.41}, {'connected_gene': 'ENSG00000273230', 'score': 29.66}, {'connected_gene': 'INTS1', 'score': 25.05}, {'connected_gene': 'PSMG3-AS1', 'score': 22.7}, {'connected_gene': 'ENSG00000242474', 'score': 19.0}, {'connected_gene': 'ENSG00000225981', 'score': 14.96}, {'connected_gene': 'PRKAR1B', 'score': 14.53}, {'connected_gene': 'LOC101927021', 'score': 11.31}, {'connected_gene': 'CYP2W1', 'score': 10.84}, {'connected_gene': 'ENSG00000273151', 'score': 10.2}, {'connected_gene': 'PDGFA', 'score': 10.01}, {'connected_gene': 'PIR61037', 'score': 0.39}]
chr7 GH07I000537 537355 540866 1.61 [{'connected_gene': 'PDGFA', 'score': 2.79}, {'connected_gene': 'GET4', 'score': 2.37}, {'connected_gene': 'PRKAR1B', 'score': 1.79}, {'connected_gene': 'DNAAF5', 'score': 1.29}, {'connected_gene': 'GC07P000552', 'score': 0.39}]
chr7 GH07I000511 511667 520913 2.65 [{'connected_gene': 'PDGFA', 'score': 560.77}, {'connected_gene': 'HRAT92', 'score': 49.52}, {'connected_gene': 'GET4', 'score': 2.07}, {'connected_gene': 'GC07P000522', 'score': 0.77}, {'connected_gene': 'ENSG00000234471', 'score': 0.34}]
chr7 GH07I000501 501163 510420 1.32 [{'connected_gene': 'HRAT92', 'score': 28.73}, {'connected_gene': 'PDGFA', 'score': 7.21}, {'connected_gene': 'GET4', 'score': 2.22}, {'connected_gene': 'CYP2W1', 'score': 1.65}, {'connected_gene': 'ENSG00000234471', 'score': 0.44}, {'connected_gene': 'GC07P000522', 'score': 0.39}]
chr7 GH07I000485 485818 485953 0.82 [{'connected_gene': 'HRAT92', 'score': 29.02}, {'connected_gene': 'LOC101927000', 'score': 11.94}, {'connected_gene': 'PDGFA', 'score': 4.14}, {'connected_gene': 'GET4', 'score': 1.69}, {'connected_gene': 'ENSG00000234471', 'score': 0.39}, {'connected_gene': 'LOC442497', 'score': 0.14}]
chr7 GH07I000892 892295 894026 0.6 [{'connected_gene': 'GC07P000891', 'score': 550.77}, {'connected_gene': 'PRKAR1B', 'score': 13.98}, {'connected_gene': 'ADAP1', 'score': 12.85}, {'connected_gene': 'ENSG00000225146', 'score': 11.16}, {'connected_gene': 'GPR146', 'score': 11.14}, {'connected_gene': 'C7orf50', 'score': 11.1}, {'connected_gene': 'DNAAF5', 'score': 8.82}, {'connected_gene': 'SUN1', 'score': 7.64}, {'connected_gene': 'GET4', 'score': 0.37}, {'connected_gene': 'PIR34198', 'score': 0.26}]
chr7 GH07I000861 861185 862098 0.79 [{'connected_gene': 'PIR61037', 'score': 550.77}, {'connected_gene': 'ENSG00000273151', 'score': 9.33}, {'connected_gene': 'DNAAF5', 'score': 7.55}, {'connected_gene': 'SUN1', 'score': 7.32}, {'connected_gene': 'GET4', 'score': 0.39}]
chr7 GH07I000968 968483 970185 0.2 [{'connected_gene': 'PIR60263', 'score': 550.77}, {'connected_gene': 'CYP2W1', 'score': 27.62}, {'connected_gene': 'ENSG00000225146', 'score': 11.63}, {'connected_gene': 'GPR146', 'score': 11.59}, {'connected_gene': 'C7orf50', 'score': 11.51}, {'connected_gene': 'COX19', 'score': 8.78}, {'connected_gene': 'GET4', 'score': 5.38}, {'connected_gene': 'LOC105375120', 'score': 4.73}]
chr7 GH07I000883 883524 883673 0.58 [{'connected_gene': 'ENSG00000273151', 'score': 0.77}, {'connected_gene': 'GET4', 'score': 0.44}, {'connected_gene': 'SUN1', 'score': 0.2}]
chr7 GH07I000884 884204 884353 0.51 [{'connected_gene': 'ENSG00000273151', 'score': 0.77}, {'connected_gene': 'GET4', 'score': 0.44}, {'connected_gene': 'SUN1', 'score': 0.2}]
chr7 GH07I000885 885084 885233 0.4 [{'connected_gene': 'ENSG00000273151', 'score': 550.77}, {'connected_gene': 'SUN1', 'score': 5.63}, {'connected_gene': 'GET4', 'score': 0.44}]