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
ENST00000573487 [[21169697, 21170067], [21172405, 21172599], [21178160, 21178232], [21181757, 21181926], [21185330, 21185469], [21190117, 21190253], [21190795, 21191308]] [[21172503, 21172599], [21178160, 21178232], [21181757, 21181926], [21185330, 21185469], [21190117, 21190133]]
ENST00000233047 [[21169697, 21170067], [21172405, 21172599], [21181757, 21181926], [21185330, 21185469], [21190795, 21191937]] [[21172503, 21172599], [21181757, 21181926], [21185330, 21185469], [21190795, 21190877]]
ENST00000572258 [[21169981, 21170067], [21172405, 21172599], [21181757, 21181926], [21190795, 21190930]] [[21172503, 21172599], [21181757, 21181926], [21190795, 21190803]]
ENST00000574092 [[21169994, 21170067], [21172298, 21172599], [21181757, 21181926], [21184645, 21184683]] None
ENST00000261388 [[21169999, 21170067], [21172298, 21172599], [21181757, 21181926], [21185330, 21185469], [21190795, 21191930]] [[21172503, 21172599], [21181757, 21181926], [21185330, 21185469], [21190795, 21190877]]
ENST00000451578 [[21170009, 21170067], [21172405, 21172599], [21178160, 21178232], [21181757, 21181926], [21185330, 21185469], [21190795, 21191541]] [[21172503, 21172599], [21178160, 21178232], [21181757, 21181926], [21185330, 21185469], [21190795, 21190877]]
ENST00000572599 [[21170025, 21170067], [21172298, 21172329], [21172405, 21172599], [21181757, 21181926], [21185330, 21185469], [21190795, 21190933]] [[21172503, 21172599], [21181757, 21181926], [21185330, 21185469], [21190795, 21190877]]
ENST00000577162 [[21170030, 21170067], [21172298, 21172329], [21172405, 21172599], [21178160, 21178203]] [[21172503, 21172599], [21178160, 21178203]]
ENST00000573688 [[21181792, 21181926], [21185330, 21185469], [21188457, 21188648], [21190795, 21191826]] [[21181792, 21181926], [21185330, 21185469], [21188457, 21188479]]
NM_001301774 [[21169697, 21170067], [21172405, 21172599], [21181757, 21181926], [21190795, 21191937]] [[21172503, 21172599], [21181757, 21181926], [21190795, 21190803]]
NM_001301771 [[21169697, 21170067], [21172405, 21172599], [21181757, 21181926], [21185330, 21185469], [21190795, 21191937]] [[21172503, 21172599], [21181757, 21181926], [21185330, 21185469], [21190795, 21190877]]
NM_001301775 [[21169697, 21170067], [21172405, 21172599], [21178160, 21178232], [21181757, 21181926], [21185330, 21185469], [21190795, 21191937]] [[21172503, 21172599], [21178160, 21178232], [21181757, 21181926], [21185330, 21185469], [21190795, 21190877]]
NR_125971 [[21169697, 21170067], [21172405, 21172599], [21178160, 21178232], [21181757, 21181926], [21185330, 21185469], [21190117, 21190253], [21190795, 21191937]] None
NM_001301769 [[21169697, 21170067], [21172298, 21172329], [21172405, 21172599], [21181757, 21181926], [21185330, 21185469], [21190795, 21191937]] [[21172503, 21172599], [21181757, 21181926], [21185330, 21185469], [21190795, 21190877]]
NM_001301773 [[21169697, 21170067], [21172298, 21172599], [21181757, 21181926], [21190795, 21191937]] [[21172503, 21172599], [21181757, 21181926], [21190795, 21190803]]
NM_020422 [[21169697, 21170067], [21172298, 21172599], [21181757, 21181926], [21185330, 21185469], [21190795, 21191937]] [[21172503, 21172599], [21181757, 21181926], [21185330, 21185469], [21190795, 21190877]]
Promoter
Chrom Start End Description
chr16 21169948 21169959 CAGE_peak_2_at_TMEM159_5end
chr16 21169965 21169974 CAGE_peak_3_at_TMEM159_5end
chr16 21169976 21170023 CAGE_peak_1_at_TMEM159_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I020858 20858921 20863598 0.52 [{'connected_gene': 'ACSM3', 'score': 15.22}, {'connected_gene': 'LYRM1', 'score': 12.1}, {'connected_gene': 'DCUN1D3', 'score': 12.1}, {'connected_gene': 'THUMPD1', 'score': 11.94}, {'connected_gene': 'TMEM159', 'score': 10.31}, {'connected_gene': 'DNAH3', 'score': 10.31}, {'connected_gene': 'PIR58963', 'score': 0.39}, {'connected_gene': 'GC16P020829', 'score': 0.29}, {'connected_gene': 'ERI2', 'score': 0.28}]
chr16 GH16I020883 20883356 20886042 1.11 [{'connected_gene': 'ACSM3', 'score': 14.19}, {'connected_gene': 'TMEM159', 'score': 10.38}, {'connected_gene': 'DNAH3', 'score': 10.38}, {'connected_gene': 'THUMPD1', 'score': 5.67}, {'connected_gene': 'LYRM1', 'score': 0.39}, {'connected_gene': 'ERI2', 'score': 0.37}, {'connected_gene': 'DCUN1D3', 'score': 0.37}, {'connected_gene': 'PIR58963', 'score': 0.28}, {'connected_gene': 'GC16P020829', 'score': 0.22}]
chr16 GH16I020886 20886638 20888857 0.69 [{'connected_gene': 'ACSM3', 'score': 14.99}, {'connected_gene': 'TMEM159', 'score': 9.55}, {'connected_gene': 'DNAH3', 'score': 9.55}, {'connected_gene': 'ERI2', 'score': 0.39}, {'connected_gene': 'LYRM1', 'score': 0.39}, {'connected_gene': 'DCUN1D3', 'score': 0.39}, {'connected_gene': 'PIR58963', 'score': 0.28}, {'connected_gene': 'GC16P020829', 'score': 0.22}]
chr16 GH16I020891 20891085 20892816 0.2 [{'connected_gene': 'ACSM3', 'score': 20.44}, {'connected_gene': 'TMEM159', 'score': 9.55}, {'connected_gene': 'DNAH3', 'score': 9.55}, {'connected_gene': 'ERI2', 'score': 0.44}, {'connected_gene': 'LYRM1', 'score': 0.44}, {'connected_gene': 'DCUN1D3', 'score': 0.44}, {'connected_gene': 'PIR58963', 'score': 0.26}, {'connected_gene': 'GC16P020829', 'score': 0.21}]
chr16 GH16I020864 20864723 20868277 1.52 [{'connected_gene': 'ACSM3', 'score': 15.22}, {'connected_gene': 'THUMPD1', 'score': 12.45}, {'connected_gene': 'LYRM1', 'score': 12.12}, {'connected_gene': 'DCUN1D3', 'score': 12.12}, {'connected_gene': 'TMEM159', 'score': 10.31}, {'connected_gene': 'DNAH3', 'score': 10.31}, {'connected_gene': 'PIR58963', 'score': 0.37}, {'connected_gene': 'ERI2', 'score': 0.29}, {'connected_gene': 'GC16P020829', 'score': 0.28}]
chr16 GH16I020876 20876784 20883078 1.29 [{'connected_gene': 'ACSM3', 'score': 21.31}, {'connected_gene': 'THUMPD1', 'score': 12.95}, {'connected_gene': 'DCUN1D3', 'score': 12.64}, {'connected_gene': 'ACSM1', 'score': 12.52}, {'connected_gene': 'NPIPB3', 'score': 11.42}, {'connected_gene': 'TMEM159', 'score': 10.38}, {'connected_gene': 'DNAH3', 'score': 10.38}, {'connected_gene': 'LYRM1', 'score': 0.37}, {'connected_gene': 'ERI2', 'score': 0.34}, {'connected_gene': 'PIR58963', 'score': 0.29}, {'connected_gene': 'GC16P020829', 'score': 0.23}]
chr16 GH16I020941 20941201 20941400 0.43 [{'connected_gene': 'LYRM1', 'score': 11.86}, {'connected_gene': 'DCUN1D3', 'score': 11.86}, {'connected_gene': 'TMEM159', 'score': 10.35}, {'connected_gene': 'DNAH3', 'score': 10.35}, {'connected_gene': 'PIR35456', 'score': 0.34}]
chr16 GH16I020853 20853057 20853855 0.51 [{'connected_gene': 'LYRM1', 'score': 11.6}, {'connected_gene': 'DCUN1D3', 'score': 11.6}, {'connected_gene': 'DNAH3', 'score': 9.89}, {'connected_gene': 'TMEM159', 'score': 9.89}, {'connected_gene': 'PIR58963', 'score': 0.77}, {'connected_gene': 'GC16P020829', 'score': 0.34}, {'connected_gene': 'ERI2', 'score': 0.25}]
chr16 GH16I021198 21198772 21200911 0.2 [{'connected_gene': 'TMEM159', 'score': 10.85}, {'connected_gene': 'DNAH3', 'score': 10.85}, {'connected_gene': 'ENSG00000262983', 'score': 0.77}, {'connected_gene': 'ZP2', 'score': 0.39}]
chr16 GH16I020889 20889699 20890512 0.66 [{'connected_gene': 'TMEM159', 'score': 9.55}, {'connected_gene': 'DNAH3', 'score': 9.55}, {'connected_gene': 'ACSM3', 'score': 8.22}, {'connected_gene': 'LYRM1', 'score': 0.44}, {'connected_gene': 'ERI2', 'score': 0.39}, {'connected_gene': 'DCUN1D3', 'score': 0.39}, {'connected_gene': 'PIR58963', 'score': 0.26}, {'connected_gene': 'GC16P020829', 'score': 0.21}]
chr16 GH16I021184 21184900 21185049 0.2 [{'connected_gene': 'TMEM159', 'score': 11.83}, {'connected_gene': 'DNAH3', 'score': 11.83}, {'connected_gene': 'ANKS4B', 'score': 11.05}, {'connected_gene': 'ENSG00000262983', 'score': 0.44}, {'connected_gene': 'GC16P021165', 'score': 0.37}]
chr16 GH16I021222 21222900 21222909 0.38 [{'connected_gene': 'TMEM159', 'score': 10.86}, {'connected_gene': 'DNAH3', 'score': 10.86}, {'connected_gene': 'GC16M021206', 'score': 0.77}, {'connected_gene': 'ANKS4B', 'score': 0.39}]
chr16 GH16I021279 21278068 21278149 0.88 [{'connected_gene': 'TMEM159', 'score': 11.09}, {'connected_gene': 'DNAH3', 'score': 11.09}, {'connected_gene': 'LOC105371125', 'score': 0.39}, {'connected_gene': 'GC16M021264', 'score': 0.34}, {'connected_gene': 'CRYM', 'score': 0.31}, {'connected_gene': 'LOC105371124', 'score': 0.31}]
chr16 GH16I021157 21157770 21160409 1.96 [{'connected_gene': 'TMEM159', 'score': 568.77}, {'connected_gene': 'DNAH3', 'score': 550.77}, {'connected_gene': 'SMG1P4', 'score': 12.52}, {'connected_gene': 'SMG1P3', 'score': 11.12}, {'connected_gene': 'NPIPB4', 'score': 10.21}]
chr16 GH16I021116 21116046 21116800 1.05 [{'connected_gene': 'TMEM159', 'score': 11.36}, {'connected_gene': 'DNAH3', 'score': 11.36}, {'connected_gene': 'GC16P021120', 'score': 0.77}, {'connected_gene': 'GC16P021084', 'score': 0.29}]
chr16 GH16I021187 21187840 21189200 1.19 [{'connected_gene': 'TMEM159', 'score': 17.33}, {'connected_gene': 'DNAH3', 'score': 12.01}, {'connected_gene': 'ENSG00000262983', 'score': 0.44}, {'connected_gene': 'GC16P021165', 'score': 0.34}]
chr16 GH16I021156 21156601 21157201 1.07 [{'connected_gene': 'TMEM159', 'score': 568.67}, {'connected_gene': 'DNAH3', 'score': 0.77}, {'connected_gene': 'PIR41433', 'score': 0.28}]
chr16 GH16I021150 21150357 21151338 0.85 [{'connected_gene': 'TMEM159', 'score': 5.51}, {'connected_gene': 'DNAH3', 'score': 0.44}, {'connected_gene': 'PIR41433', 'score': 0.31}]
chr16 GH16I020825 20825079 20826801 0.91 [{'connected_gene': 'THUMPD1', 'score': 11.95}, {'connected_gene': 'ACSM3', 'score': 10.63}, {'connected_gene': 'LYRM1', 'score': 10.57}, {'connected_gene': 'DCUN1D3', 'score': 10.57}, {'connected_gene': 'TMEM159', 'score': 9.93}, {'connected_gene': 'DNAH3', 'score': 9.93}, {'connected_gene': 'GC16P020829', 'score': 0.77}, {'connected_gene': 'ENSG00000275908', 'score': 0.77}, {'connected_gene': 'REXO5', 'score': 0.37}, {'connected_gene': 'ERI2', 'score': 0.19}]
chr16 GH16I020918 20918408 20919500 1.32 [{'connected_gene': 'THUMPD1', 'score': 19.01}, {'connected_gene': 'NPIPB4', 'score': 15.43}, {'connected_gene': 'NPIPB3', 'score': 14.12}, {'connected_gene': 'SMG1P3', 'score': 12.05}, {'connected_gene': 'RRN3P1', 'score': 11.55}, {'connected_gene': 'ACSM3', 'score': 11.18}, {'connected_gene': 'DNAH3', 'score': 9.5}, {'connected_gene': 'TMEM159', 'score': 9.5}, {'connected_gene': 'DCUN1D3', 'score': 0.37}, {'connected_gene': 'LYRM1', 'score': 0.34}, {'connected_gene': 'PIR35456', 'score': 0.25}, {'connected_gene': 'GC16P020829', 'score': 0.17}]
chr16 GH16I021202 21202417 21204722 0.59 [{'connected_gene': 'DNAH3', 'score': 10.99}, {'connected_gene': 'TMEM159', 'score': 10.98}, {'connected_gene': 'ENSG00000262983', 'score': 0.44}, {'connected_gene': 'ZP2', 'score': 0.39}]
chr16 GH16I021100 21100064 21101229 0.54 [{'connected_gene': 'DNAH3', 'score': 14.97}, {'connected_gene': 'TMEM159', 'score': 10.57}, {'connected_gene': 'GC16P021084', 'score': 0.37}, {'connected_gene': 'GC16P021120', 'score': 0.37}]
chr16 GH16I021075 21075800 21077116 0.54 [{'connected_gene': 'DNAH3', 'score': 17.29}, {'connected_gene': 'DCUN1D3', 'score': 17.29}, {'connected_gene': 'LYRM1', 'score': 10.91}, {'connected_gene': 'TMEM159', 'score': 10.84}, {'connected_gene': 'ACSM3', 'score': 7.18}, {'connected_gene': 'ACSM1', 'score': 5.51}, {'connected_gene': 'GC16P021084', 'score': 0.44}, {'connected_gene': 'GC16M021061', 'score': 0.39}]
chr16 GH16I021162 21162640 21163611 0.38 [{'connected_gene': 'ACSM5', 'score': 4.06}, {'connected_gene': 'TMEM159', 'score': 0.77}, {'connected_gene': 'GC16P021165', 'score': 0.77}, {'connected_gene': 'DNAH3', 'score': 0.77}]
chr16 GH16I021283 21283140 21284529 1.34 [{'connected_gene': 'CRYM', 'score': 11.24}, {'connected_gene': 'TMEM159', 'score': 11.12}, {'connected_gene': 'DNAH3', 'score': 11.12}, {'connected_gene': 'LOC105371125', 'score': 0.44}, {'connected_gene': 'GC16M021264', 'score': 0.37}, {'connected_gene': 'LOC105371124', 'score': 0.29}]
chr16 GH16I021278 21278160 21278601 1.95 [{'connected_gene': 'CRYM', 'score': 555.88}, {'connected_gene': 'DNAH3', 'score': 11.09}, {'connected_gene': 'TMEM159', 'score': 11.09}, {'connected_gene': 'LOC105371125', 'score': 0.39}, {'connected_gene': 'GC16M021264', 'score': 0.34}, {'connected_gene': 'LOC105371124', 'score': 0.31}]
chr16 GH16I021300 21300089 21304003 2.32 [{'connected_gene': 'CRYM', 'score': 565.2}, {'connected_gene': 'CRYM-AS1', 'score': 550.77}, {'connected_gene': 'GC16M021264', 'score': 550.77}, {'connected_gene': 'RRN3P1', 'score': 20.7}, {'connected_gene': 'ENSG00000260306', 'score': 20.51}, {'connected_gene': 'C16orf52', 'score': 13.18}, {'connected_gene': 'TMEM159', 'score': 11.41}, {'connected_gene': 'DNAH3', 'score': 11.41}, {'connected_gene': 'EEF2K', 'score': 4.85}, {'connected_gene': 'ENSG00000283421', 'score': 0.77}]
chr16 GH16I021260 21260593 21262446 1.24 [{'connected_gene': 'CRYM', 'score': 13.53}, {'connected_gene': 'ANKS4B', 'score': 11.62}, {'connected_gene': 'TMEM159', 'score': 10.71}, {'connected_gene': 'DNAH3', 'score': 10.71}, {'connected_gene': 'ZP2', 'score': 10.45}, {'connected_gene': 'SMG1P4', 'score': 10.25}, {'connected_gene': 'LOC105371124', 'score': 0.44}, {'connected_gene': 'LOC105371125', 'score': 0.31}]
chr16 GH16I021263 21263493 21265204 1.08 [{'connected_gene': 'CRYM', 'score': 46.82}, {'connected_gene': 'ANKS4B', 'score': 11.61}, {'connected_gene': 'DNAH3', 'score': 10.92}, {'connected_gene': 'TMEM159', 'score': 10.91}, {'connected_gene': 'ZP2', 'score': 10.45}, {'connected_gene': 'LOC105371124', 'score': 0.39}, {'connected_gene': 'LOC105371125', 'score': 0.31}, {'connected_gene': 'GC16M021264', 'score': 0.28}]
chr16 GH16I020909 20909738 20915105 1.48 [{'connected_gene': 'DCUN1D3', 'score': 22.84}, {'connected_gene': 'ACSM3', 'score': 13.64}, {'connected_gene': 'TMEM159', 'score': 9.67}, {'connected_gene': 'DNAH3', 'score': 9.67}, {'connected_gene': 'CRYM', 'score': 9.29}, {'connected_gene': 'ACSM1', 'score': 9.13}, {'connected_gene': 'THUMPD1', 'score': 7.74}, {'connected_gene': 'LYRM1', 'score': 6.73}, {'connected_gene': 'PIR35456', 'score': 0.23}, {'connected_gene': 'GC16P020829', 'score': 0.18}]
chr16 GH16I021166 21166647 21168199 0.6 [{'connected_gene': 'GC16P021165', 'score': 550.77}, {'connected_gene': 'TMEM159', 'score': 0.44}, {'connected_gene': 'ENSG00000262983', 'score': 0.31}]
chr16 GH16I020849 20849601 20852672 1.57 [{'connected_gene': 'PIR58963', 'score': 550.77}, {'connected_gene': 'THUMPD1', 'score': 15.37}, {'connected_gene': 'LYRM1', 'score': 11.77}, {'connected_gene': 'DCUN1D3', 'score': 11.77}, {'connected_gene': 'TMEM159', 'score': 10.4}, {'connected_gene': 'DNAH3', 'score': 10.4}, {'connected_gene': 'GC16P020829', 'score': 0.34}, {'connected_gene': 'REXO5', 'score': 0.26}, {'connected_gene': 'ERI2', 'score': 0.25}]
chr16 GH16I021083 21083900 21084069 0.76 [{'connected_gene': 'GC16P021084', 'score': 550.77}, {'connected_gene': 'ERI2', 'score': 11.76}, {'connected_gene': 'REXO5', 'score': 11.74}, {'connected_gene': 'DCUN1D3', 'score': 11.11}, {'connected_gene': 'LYRM1', 'score': 11.11}, {'connected_gene': 'TMEM159', 'score': 10.9}, {'connected_gene': 'DNAH3', 'score': 10.89}, {'connected_gene': 'GC16M021061', 'score': 0.34}]

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