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
ENST00000303575 [[75598172, 75601709], [75602462, 75602589], [75614366, 75614440], [75618734, 75618846], [75643057, 75643334]] [[75601587, 75601709], [75602462, 75602589], [75614366, 75614440], [75618734, 75618846], [75643057, 75643282]]
ENST00000555873 [[75601202, 75601709], [75602462, 75602589], [75605776, 75605874], [75614366, 75614440], [75618734, 75618846], [75643057, 75643300]] [[75605823, 75605874], [75614366, 75614440], [75618734, 75618846], [75643057, 75643282]]
ENST00000555085 [[75614257, 75614440], [75618734, 75618846], [75643057, 75643315]] None
ENST00000556969 [[75600640, 75601709], [75602462, 75602589], [75614366, 75614484]] None
ENST00000557670 [[75601058, 75601709], [75602462, 75602589], [75614366, 75614440], [75614535, 75614600]] None
ENST00000555036 [[75601142, 75601709], [75602365, 75602589], [75614366, 75614463]] None
NM_006827 [[75598170, 75601709], [75602462, 75602589], [75614366, 75614440], [75618734, 75618846], [75643057, 75643349]] [[75601587, 75601709], [75602462, 75602589], [75614366, 75614440], [75618734, 75618846], [75643057, 75643282]]
Promoter
Chrom Start End Description
chr14 75614425 75614471 CAGE_peak_2_at_TMED10_5end
chr14 75614593 75614605 CAGE_peak_13_at_TMED10_5end
chr14 75643296 75643341 CAGE_peak_1_at_TMED10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I075167 75167201 75167800 0.58 [{'connected_gene': 'ACYP1', 'score': 5.59}, {'connected_gene': 'TMED10', 'score': 0.44}, {'connected_gene': 'NEK9', 'score': 0.26}]
chr14 GH14I075163 75163239 75164413 0.31 [{'connected_gene': 'EIF2B2', 'score': 20.63}, {'connected_gene': 'ACYP1', 'score': 6.81}, {'connected_gene': 'TMED10', 'score': 0.39}, {'connected_gene': 'NEK9', 'score': 0.28}]
chr14 GH14I075162 75162399 75163173 0.38 [{'connected_gene': 'EIF2B2', 'score': 20.91}, {'connected_gene': 'ACYP1', 'score': 6.81}, {'connected_gene': 'TMED10', 'score': 0.39}, {'connected_gene': 'NEK9', 'score': 0.28}]
chr14 GH14I075133 75133848 75136534 0.43 [{'connected_gene': 'EIF2B2', 'score': 20.38}, {'connected_gene': 'ZC2HC1C', 'score': 19.36}, {'connected_gene': 'ACYP1', 'score': 6.74}, {'connected_gene': 'NEK9', 'score': 0.44}, {'connected_gene': 'ENSG00000259138', 'score': 0.44}, {'connected_gene': 'TMED10', 'score': 0.26}, {'connected_gene': 'GC14P075088', 'score': 0.25}]
chr14 GH14I075132 75132038 75133199 0.92 [{'connected_gene': 'EIF2B2', 'score': 17.54}, {'connected_gene': 'ZC2HC1C', 'score': 17.52}, {'connected_gene': 'ACYP1', 'score': 6.89}, {'connected_gene': 'NEK9', 'score': 0.44}, {'connected_gene': 'ENSG00000259138', 'score': 0.44}, {'connected_gene': 'GC14P075088', 'score': 0.26}, {'connected_gene': 'TMED10', 'score': 0.26}]
chr14 GH14I075158 75158845 75160663 0.68 [{'connected_gene': 'EIF2B2', 'score': 20.38}, {'connected_gene': 'ZC2HC1C', 'score': 17.47}, {'connected_gene': 'ACYP1', 'score': 6.7}, {'connected_gene': 'TMED10', 'score': 0.37}, {'connected_gene': 'NEK9', 'score': 0.29}]
chr14 GH14I075138 75138181 75139527 0.71 [{'connected_gene': 'EIF2B2', 'score': 20.61}, {'connected_gene': 'ZC2HC1C', 'score': 6.48}, {'connected_gene': 'NEK9', 'score': 0.39}, {'connected_gene': 'TMED10', 'score': 0.28}, {'connected_gene': 'GC14P075088', 'score': 0.23}]
chr14 GH14I075151 75151269 75152879 0.31 [{'connected_gene': 'EIF2B2', 'score': 16.78}, {'connected_gene': 'TMED10', 'score': 12.73}, {'connected_gene': 'NEK9', 'score': 10.88}, {'connected_gene': 'BATF', 'score': 10.59}, {'connected_gene': 'ACYP1', 'score': 6.85}]
chr14 GH14I075152 75152961 75154018 0.38 [{'connected_gene': 'EIF2B2', 'score': 16.16}, {'connected_gene': 'TMED10', 'score': 13.18}, {'connected_gene': 'NEK9', 'score': 11.47}, {'connected_gene': 'BATF', 'score': 10.59}, {'connected_gene': 'JDP2', 'score': 9.65}, {'connected_gene': 'ACYP1', 'score': 6.71}]
chr14 GH14I075157 75157740 75158567 0.2 [{'connected_gene': 'EIF2B2', 'score': 17.84}, {'connected_gene': 'TMED10', 'score': 0.37}, {'connected_gene': 'NEK9', 'score': 0.29}]
chr14 GH14I075159 75157258 75157407 0.69 [{'connected_gene': 'EIF2B2', 'score': 17.61}, {'connected_gene': 'TMED10', 'score': 0.37}, {'connected_gene': 'NEK9', 'score': 0.31}]
chr14 GH14I075165 75165857 75166512 0.78 [{'connected_gene': 'EIF2B2', 'score': 16.92}, {'connected_gene': 'TMED10', 'score': 0.39}, {'connected_gene': 'NEK9', 'score': 0.28}]
chr14 GH14I075161 75161449 75162007 0.2 [{'connected_gene': 'EIF2B2', 'score': 9.42}, {'connected_gene': 'TMED10', 'score': 0.39}, {'connected_gene': 'NEK9', 'score': 0.29}]
chr14 GH14I075160 75160801 75161000 0.51 [{'connected_gene': 'EIF2B2', 'score': 17.65}, {'connected_gene': 'TMED10', 'score': 0.37}, {'connected_gene': 'NEK9', 'score': 0.29}]
chr14 GH14I075170 75170002 75170600 0.4 [{'connected_gene': 'EIF2B2', 'score': 17.25}, {'connected_gene': 'TMED10', 'score': 0.44}, {'connected_gene': 'NEK9', 'score': 0.26}]
chr14 GH14I075142 75142401 75142600 0.69 [{'connected_gene': 'EIF2B2', 'score': 16.79}, {'connected_gene': 'TMED10', 'score': 12.33}, {'connected_gene': 'DPPA5P4', 'score': 11.6}, {'connected_gene': 'JDP2', 'score': 9.87}, {'connected_gene': 'NEK9', 'score': 0.37}, {'connected_gene': 'GC14P075088', 'score': 0.23}]
chr14 GH14I075146 75144651 75145678 0.6 [{'connected_gene': 'EIF2B2', 'score': 20.37}, {'connected_gene': 'TMED10', 'score': 12.3}, {'connected_gene': 'JDP2', 'score': 9.79}, {'connected_gene': 'NEK9', 'score': 0.37}, {'connected_gene': 'GC14P075088', 'score': 0.22}]
chr14 GH14I075147 75146497 75149384 1.12 [{'connected_gene': 'ZC2HC1C', 'score': 18.3}, {'connected_gene': 'EIF2B2', 'score': 16.78}, {'connected_gene': 'TMED10', 'score': 12.7}, {'connected_gene': 'NEK9', 'score': 10.88}, {'connected_gene': 'BATF', 'score': 10.59}, {'connected_gene': 'JDP2', 'score': 9.79}, {'connected_gene': 'ACYP1', 'score': 6.86}, {'connected_gene': 'GC14P075088', 'score': 0.22}]
chr14 GH14I075173 75173208 75173783 0.31 [{'connected_gene': 'ZC2HC1C', 'score': 17.33}, {'connected_gene': 'EIF2B2', 'score': 17.21}, {'connected_gene': 'TMED10', 'score': 0.77}, {'connected_gene': 'NEK9', 'score': 0.25}]
chr14 GH14I075120 75120401 75121353 0.78 [{'connected_gene': 'ZC2HC1C', 'score': 10.92}, {'connected_gene': 'MLH3', 'score': 10.9}, {'connected_gene': 'ACYP1', 'score': 10.8}, {'connected_gene': 'PGF', 'score': 10.39}, {'connected_gene': 'RPS6KL1', 'score': 10.27}, {'connected_gene': 'TMED10', 'score': 10.24}, {'connected_gene': 'RNU6-689P', 'score': 10.05}, {'connected_gene': 'JDP2', 'score': 9.91}, {'connected_gene': 'HIF1AP1', 'score': 0.77}, {'connected_gene': 'ENSG00000259138', 'score': 0.44}, {'connected_gene': 'NEK9', 'score': 0.44}, {'connected_gene': 'GC14P075088', 'score': 0.29}]
chr14 GH14I075293 75293004 75299870 2.04 [{'connected_gene': 'JDP2', 'score': 29.1}, {'connected_gene': 'TMED10', 'score': 11.88}, {'connected_gene': 'NEK9', 'score': 11.18}, {'connected_gene': 'LINC01220', 'score': 10.66}, {'connected_gene': 'BATF', 'score': 9.93}, {'connected_gene': 'FOS', 'score': 8.19}, {'connected_gene': 'DPPA5P4', 'score': 7.56}, {'connected_gene': 'SYNDIG1L', 'score': 5.43}, {'connected_gene': 'FLVCR2', 'score': 3.6}]
chr14 GH14I075309 75309837 75312434 1.32 [{'connected_gene': 'JDP2', 'score': 11.86}, {'connected_gene': 'TMED10', 'score': 11.53}, {'connected_gene': 'NEK9', 'score': 10.78}, {'connected_gene': 'MLH3', 'score': 9.89}, {'connected_gene': 'ZC2HC1C', 'score': 9.89}, {'connected_gene': 'LINC01220', 'score': 4.68}]
chr14 GH14I075307 75307791 75308100 0.8 [{'connected_gene': 'JDP2', 'score': 11.86}, {'connected_gene': 'TMED10', 'score': 11.53}, {'connected_gene': 'NEK9', 'score': 10.78}, {'connected_gene': 'MLH3', 'score': 9.89}, {'connected_gene': 'ZC2HC1C', 'score': 9.89}, {'connected_gene': 'LINC01220', 'score': 5.55}]
chr14 GH14I075154 75154983 75156520 0.38 [{'connected_gene': 'TMED10', 'score': 13.06}, {'connected_gene': 'NEK9', 'score': 10.3}, {'connected_gene': 'JDP2', 'score': 9.65}, {'connected_gene': 'EIF2B2', 'score': 4.66}]
chr14 GH14I075300 75300742 75302592 1.09 [{'connected_gene': 'TMED10', 'score': 11.88}, {'connected_gene': 'NEK9', 'score': 11.17}, {'connected_gene': 'JDP2', 'score': 10.35}, {'connected_gene': 'BATF', 'score': 9.93}, {'connected_gene': 'LINC01220', 'score': 0.44}]
chr14 GH14I075301 75300379 75300389 0.4 [{'connected_gene': 'TMED10', 'score': 11.88}, {'connected_gene': 'NEK9', 'score': 11.17}, {'connected_gene': 'JDP2', 'score': 10.35}, {'connected_gene': 'BATF', 'score': 9.93}, {'connected_gene': 'LINC01220', 'score': 0.44}]
chr14 GH14I075150 75150698 75150847 0.51 [{'connected_gene': 'TMED10', 'score': 12.7}, {'connected_gene': 'NEK9', 'score': 10.88}, {'connected_gene': 'BATF', 'score': 10.59}, {'connected_gene': 'EIF2B2', 'score': 4.63}]
chr14 GH14I075153 75150238 75150427 0.58 [{'connected_gene': 'TMED10', 'score': 12.7}, {'connected_gene': 'NEK9', 'score': 10.88}, {'connected_gene': 'BATF', 'score': 10.59}]
chr14 GH14I075168 75168410 75168980 0.52 [{'connected_gene': 'TMED10', 'score': 0.44}, {'connected_gene': 'NEK9', 'score': 0.26}]
chr14 GH14I075164 75164693 75165238 0.2 [{'connected_gene': 'TMED10', 'score': 0.39}, {'connected_gene': 'NEK9', 'score': 0.28}]
chr14 GH14I075145 75142118 75142267 0.69 [{'connected_gene': 'TMED10', 'score': 12.33}, {'connected_gene': 'DPPA5P4', 'score': 11.59}, {'connected_gene': 'JDP2', 'score': 9.87}, {'connected_gene': 'NEK9', 'score': 0.39}, {'connected_gene': 'GC14P075088', 'score': 0.23}]
chr14 GH14I075141 75141031 75141747 0.88 [{'connected_gene': 'TMED10', 'score': 12.31}, {'connected_gene': 'DPPA5P4', 'score': 11.59}, {'connected_gene': 'JDP2', 'score': 10.48}, {'connected_gene': 'ZC2HC1C', 'score': 9.54}, {'connected_gene': 'MLH3', 'score': 9.52}, {'connected_gene': 'FOS', 'score': 4.74}, {'connected_gene': 'NEK9', 'score': 0.39}, {'connected_gene': 'GC14P075088', 'score': 0.23}]
chr14 GH14I075143 75143601 75143800 0.51 [{'connected_gene': 'TMED10', 'score': 12.3}, {'connected_gene': 'JDP2', 'score': 9.79}, {'connected_gene': 'NEK9', 'score': 0.37}, {'connected_gene': 'GC14P075088', 'score': 0.22}]
chr14 GH14I075148 75144001 75144200 0.51 [{'connected_gene': 'TMED10', 'score': 12.3}, {'connected_gene': 'JDP2', 'score': 9.79}, {'connected_gene': 'NEK9', 'score': 0.37}, {'connected_gene': 'GC14P075088', 'score': 0.22}]
chr14 GH14I075149 75145838 75145984 0.4 [{'connected_gene': 'TMED10', 'score': 12.3}, {'connected_gene': 'JDP2', 'score': 9.79}, {'connected_gene': 'NEK9', 'score': 0.37}, {'connected_gene': 'GC14P075088', 'score': 0.22}]
chr14 GH14I075144 75144278 75144360 0.4 [{'connected_gene': 'TMED10', 'score': 12.3}, {'connected_gene': 'JDP2', 'score': 9.79}, {'connected_gene': 'NEK9', 'score': 0.37}, {'connected_gene': 'GC14P075088', 'score': 0.22}]
chr14 GH14I075221 75221361 75222999 1.25 [{'connected_gene': 'TMED10', 'score': 11.39}, {'connected_gene': 'JDP2', 'score': 9.52}, {'connected_gene': 'FOS', 'score': 3.16}, {'connected_gene': 'DLST', 'score': 1.22}, {'connected_gene': 'RNU4ATAC14P', 'score': 0.34}, {'connected_gene': 'LOC105370571', 'score': 0.28}]
chr14 GH14I075236 75236402 75240081 1.66 [{'connected_gene': 'TMED10', 'score': 11.53}, {'connected_gene': 'JDP2', 'score': 9.68}, {'connected_gene': 'ENSG00000258740', 'score': 5.74}, {'connected_gene': 'LOC105370571', 'score': 0.37}, {'connected_gene': 'RNU4ATAC14P', 'score': 0.28}]
chr14 GH14I075215 75215901 75216736 0.57 [{'connected_gene': 'TMED10', 'score': 11.48}, {'connected_gene': 'RNU4ATAC14P', 'score': 0.39}, {'connected_gene': 'LOC105370571', 'score': 0.26}]
chr14 GH14I075174 75174170 75177578 2.28 [{'connected_gene': 'ENSG00000273565', 'score': 550.77}, {'connected_gene': 'TMED10', 'score': 550.77}, {'connected_gene': 'ZC2HC1C', 'score': 17.21}, {'connected_gene': 'ACYP1', 'score': 6.25}, {'connected_gene': 'RPS6KL1', 'score': 4.17}, {'connected_gene': 'NEK9', 'score': 0.25}]
chr14 GH14I075282 75282418 75285010 1.43 [{'connected_gene': 'GC14P075289', 'score': 550.77}, {'connected_gene': 'GC14P075290', 'score': 550.77}, {'connected_gene': 'TMED10', 'score': 10.83}, {'connected_gene': 'LINC01220', 'score': 6.44}, {'connected_gene': 'JDP2', 'score': 6.12}, {'connected_gene': 'FOS', 'score': 1.84}, {'connected_gene': 'PROX2', 'score': 1.15}, {'connected_gene': 'DPPA5P4', 'score': 0.44}]
chr14 GH14I075178 75178159 75178168 0.23 [{'connected_gene': 'ENSG00000273565', 'score': 550.77}, {'connected_gene': 'TMED10', 'score': 550.77}, {'connected_gene': 'RNU4ATAC14P', 'score': 0.34}]