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
ENST00000534692 [[66586465, 66586696], [66596974, 66597120], [66599985, 66600154]] [[66586618, 66586696], [66596974, 66596998]]
ENST00000264001 [[66586469, 66586696], [66592092, 66592251], [66597024, 66597120], [66599788, 66599975]] [[66586618, 66586696], [66592092, 66592251], [66597024, 66597120], [66599788, 66599914]]
ENST00000362093 [[66586471, 66586696], [66599788, 66599975]] [[66586618, 66586696], [66599788, 66599914]]
ENST00000351137 [[66586471, 66586696], [66597024, 66597120], [66599788, 66599975]] [[66586618, 66586696], [66597024, 66597120], [66599788, 66599914]]
ENST00000345436 [[66586471, 66586696], [66592092, 66592251], [66599788, 66599975]] [[66586618, 66586696], [66592092, 66592251], [66599788, 66599914]]
ENST00000526149 [[66586475, 66586696], [66592092, 66592435]] None
ENST00000417030 [[66586484, 66586696], [66592092, 66592251], [66597024, 66597120], [66599985, 66600146]] [[66586618, 66586696], [66592092, 66592251], [66597024, 66597120], [66599985, 66599994]]
ENST00000563092 [[66587297, 66587382], [66597024, 66597120], [66599788, 66599972]] None
NM_016326 [[66586465, 66586696], [66599788, 66600190]] [[66586618, 66586696], [66599788, 66599914]]
NM_181640 [[66586465, 66586696], [66597024, 66597120], [66599788, 66600190]] [[66586618, 66586696], [66597024, 66597120], [66599788, 66599914]]
NM_181641 [[66586465, 66586696], [66592092, 66592251], [66599788, 66600190]] [[66586618, 66586696], [66592092, 66592251], [66599788, 66599914]]
NM_001040138 [[66586465, 66586696], [66592092, 66592251], [66597024, 66597120], [66599985, 66600190]] [[66586618, 66586696], [66592092, 66592251], [66597024, 66597120], [66599985, 66599994]]
NM_016951 [[66586465, 66586696], [66592092, 66592251], [66597024, 66597120], [66599788, 66600190]] [[66586618, 66586696], [66592092, 66592251], [66597024, 66597120], [66599788, 66599914]]
Promoter
Chrom Start End Description
chr16 66586461 66586567 CAGE_peak_1_at_CKLF-CMTM1_5end,CAGE_peak_1_at_CKLF_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I066515 66515002 66527445 1.83 [{'connected_gene': 'TK2', 'score': 31.23}, {'connected_gene': 'CKLF', 'score': 29.03}, {'connected_gene': 'ENSG00000260465', 'score': 25.76}, {'connected_gene': 'ZDHHC1', 'score': 25.27}, {'connected_gene': 'NAE1', 'score': 24.02}, {'connected_gene': 'BEAN1', 'score': 22.31}, {'connected_gene': 'CKLF-CMTM1', 'score': 13.28}, {'connected_gene': 'E2F4', 'score': 11.73}, {'connected_gene': 'CMTM2', 'score': 11.48}, {'connected_gene': 'PLEKHG4', 'score': 10.68}, {'connected_gene': 'FBXL8', 'score': 9.89}, {'connected_gene': 'TRADD', 'score': 9.83}, {'connected_gene': 'LINC00920', 'score': 6.3}, {'connected_gene': 'CMTM1', 'score': 1.32}, {'connected_gene': 'ENSG00000260851', 'score': 0.77}, {'connected_gene': 'ENSG00000261519', 'score': 0.31}]
chr16 GH16I066502 66502155 66503373 1.4 [{'connected_gene': 'TK2', 'score': 28.71}, {'connected_gene': 'E2F4', 'score': 13.44}, {'connected_gene': 'CKLF', 'score': 11.89}, {'connected_gene': 'CKLF-CMTM1', 'score': 11.89}, {'connected_gene': 'ENSG00000260465', 'score': 11.31}, {'connected_gene': 'CES3', 'score': 1.37}, {'connected_gene': 'ENSG00000260755', 'score': 0.44}, {'connected_gene': 'ENSG00000260851', 'score': 0.39}, {'connected_gene': 'GC16P066491', 'score': 0.39}]
chr16 GH16I066547 66547754 66554347 2.3 [{'connected_gene': 'TK2', 'score': 579.97}, {'connected_gene': 'ENSG00000261519', 'score': 550.77}, {'connected_gene': 'CKLF-CMTM1', 'score': 550.77}, {'connected_gene': 'PIR51465', 'score': 550.77}, {'connected_gene': 'PIR54425', 'score': 550.77}, {'connected_gene': 'CKLF', 'score': 550.77}, {'connected_gene': 'ENSG00000275745', 'score': 550.77}, {'connected_gene': 'NAE1', 'score': 45.15}, {'connected_gene': 'ZDHHC1', 'score': 40.42}, {'connected_gene': 'BEAN1', 'score': 25.09}, {'connected_gene': 'PLEKHG4', 'score': 21.49}, {'connected_gene': 'ENSG00000260465', 'score': 19.69}, {'connected_gene': 'BEAN1-AS1', 'score': 18.47}, {'connected_gene': 'FBXL8', 'score': 18.33}, {'connected_gene': 'KIAA0895L', 'score': 14.35}, {'connected_gene': 'CMTM2', 'score': 11.56}, {'connected_gene': 'TRADD', 'score': 10.08}, {'connected_gene': 'PIR36312', 'score': 0.77}, {'connected_gene': 'GC16M066555', 'score': 0.77}]
chr16 GH16I066984 66984819 66985072 0.53 [{'connected_gene': 'FBXL8', 'score': 2.7}, {'connected_gene': 'CES4A', 'score': 2.55}, {'connected_gene': 'CMTM3', 'score': 1.84}, {'connected_gene': 'CBFB', 'score': 1.82}, {'connected_gene': 'TRADD', 'score': 1.71}, {'connected_gene': 'CKLF', 'score': 1.34}, {'connected_gene': 'CES3', 'score': 0.34}]
chr16 GH16I066227 66227773 66228136 0.22 [{'connected_gene': 'CKLF', 'score': 2.28}, {'connected_gene': 'GC16M066229', 'score': 0.39}, {'connected_gene': 'LOC105371316', 'score': 0.16}]
chr16 GH16I066558 66558228 66560483 0.31 [{'connected_gene': 'BEAN1', 'score': 33.57}, {'connected_gene': 'TK2', 'score': 14.97}, {'connected_gene': 'CKLF', 'score': 0.44}, {'connected_gene': 'GC16M066555', 'score': 0.44}, {'connected_gene': 'CKLF-CMTM1', 'score': 0.44}, {'connected_gene': 'PIR36312', 'score': 0.44}, {'connected_gene': 'ENSG00000277978', 'score': 0.44}]
chr16 GH16I066560 66560978 66563631 0.8 [{'connected_gene': 'BEAN1', 'score': 34.06}, {'connected_gene': 'TK2', 'score': 23.81}, {'connected_gene': 'ENSG00000277978', 'score': 0.77}, {'connected_gene': 'CKLF', 'score': 0.44}, {'connected_gene': 'GC16M066555', 'score': 0.44}, {'connected_gene': 'CKLF-CMTM1', 'score': 0.44}, {'connected_gene': 'PIR36312', 'score': 0.44}]
chr16 GH16I066585 66585542 66588400 0.76 [{'connected_gene': 'BEAN1', 'score': 19.9}, {'connected_gene': 'TK2', 'score': 13.95}, {'connected_gene': 'CKLF', 'score': 13.79}, {'connected_gene': 'LINC00920', 'score': 6.15}, {'connected_gene': 'CMTM2', 'score': 0.44}, {'connected_gene': 'ENSG00000260650', 'score': 0.44}, {'connected_gene': 'CMTM3', 'score': 0.37}]
chr16 GH16I066538 66538392 66540930 0.83 [{'connected_gene': 'BEAN1', 'score': 34.58}, {'connected_gene': 'TK2', 'score': 12.88}, {'connected_gene': 'CMTM2', 'score': 11.34}, {'connected_gene': 'CKLF', 'score': 8.7}, {'connected_gene': 'ENSG00000261519', 'score': 0.44}, {'connected_gene': 'ENSG00000260851', 'score': 0.34}]
chr16 GH16I066536 66536440 66537879 0.2 [{'connected_gene': 'BEAN1', 'score': 10.31}, {'connected_gene': 'CKLF', 'score': 8.59}, {'connected_gene': 'ENSG00000261519', 'score': 0.39}, {'connected_gene': 'ENSG00000260851', 'score': 0.37}, {'connected_gene': 'TK2', 'score': 0.37}]
chr16 GH16I066459 66459938 66460047 0.38 [{'connected_gene': 'BEAN1', 'score': 12.04}, {'connected_gene': 'CKLF', 'score': 10.38}, {'connected_gene': 'CKLF-CMTM1', 'score': 10.38}, {'connected_gene': 'TK2', 'score': 10.38}, {'connected_gene': 'CA7', 'score': 9.47}, {'connected_gene': 'GC16M066468', 'score': 0.44}, {'connected_gene': 'PIR55464', 'score': 0.44}, {'connected_gene': 'ENSG00000260146', 'score': 0.44}]
chr16 GH16I066578 66578787 66579572 1.08 [{'connected_gene': 'CMTM2', 'score': 550.77}, {'connected_gene': 'ENSG00000260650', 'score': 550.77}, {'connected_gene': 'TK2', 'score': 16.73}, {'connected_gene': 'CKLF', 'score': 12.17}, {'connected_gene': 'CKLF-CMTM1', 'score': 12.17}, {'connected_gene': 'CMTM1', 'score': 0.39}]
chr16 GH16I066580 66580218 66582376 0.95 [{'connected_gene': 'CMTM2', 'score': 550.77}, {'connected_gene': 'ENSG00000260650', 'score': 550.77}, {'connected_gene': 'BEAN1', 'score': 33.56}, {'connected_gene': 'CMTM3', 'score': 22.41}, {'connected_gene': 'CKLF', 'score': 11.41}, {'connected_gene': 'CKLF-CMTM1', 'score': 11.41}, {'connected_gene': 'TK2', 'score': 11.41}]
chr16 GH16I066564 66564818 66564967 0.4 [{'connected_gene': 'CMTM1', 'score': 550.77}, {'connected_gene': 'ENSG00000277978', 'score': 550.77}, {'connected_gene': 'BEAN1', 'score': 10.55}, {'connected_gene': 'CKLF', 'score': 0.39}, {'connected_gene': 'GC16M066555', 'score': 0.39}, {'connected_gene': 'CKLF-CMTM1', 'score': 0.39}, {'connected_gene': 'PIR36312', 'score': 0.39}]
chr16 GH16I066555 66555601 66555800 0.4 [{'connected_gene': 'GC16M066555', 'score': 550.77}, {'connected_gene': 'PIR36312', 'score': 550.77}, {'connected_gene': 'CKLF', 'score': 0.77}, {'connected_gene': 'CKLF-CMTM1', 'score': 0.77}, {'connected_gene': 'ENSG00000277978', 'score': 0.39}]
chr16 GH16I066510 66510267 66514067 1.35 [{'connected_gene': 'PIR49300', 'score': 550.77}, {'connected_gene': 'PIR55233', 'score': 550.77}, {'connected_gene': 'GC16M066512', 'score': 550.77}, {'connected_gene': 'BEAN1', 'score': 33.21}, {'connected_gene': 'TK2', 'score': 22.87}, {'connected_gene': 'BEAN1-AS1', 'score': 17.11}, {'connected_gene': 'CKLF', 'score': 12.2}, {'connected_gene': 'CKLF-CMTM1', 'score': 12.2}, {'connected_gene': 'CMTM2', 'score': 11.46}, {'connected_gene': 'CES4A', 'score': 4.5}, {'connected_gene': 'ENSG00000260851', 'score': 0.44}]
chr16 GH16I066509 66509487 66510189 0.43 [{'connected_gene': 'PIR49300', 'score': 550.77}, {'connected_gene': 'PIR55233', 'score': 550.77}, {'connected_gene': 'ENSG00000260755', 'score': 550.77}, {'connected_gene': 'PIR59655', 'score': 550.77}, {'connected_gene': 'BEAN1', 'score': 17.3}, {'connected_gene': 'CKLF', 'score': 11.91}, {'connected_gene': 'TK2', 'score': 11.91}, {'connected_gene': 'CKLF-CMTM1', 'score': 11.91}, {'connected_gene': 'GC16M066512', 'score': 0.77}, {'connected_gene': 'ENSG00000260851', 'score': 0.44}]
chr16 GH16I066507 66507771 66509292 1.16 [{'connected_gene': 'ENSG00000260755', 'score': 550.77}, {'connected_gene': 'PIR59655', 'score': 550.77}, {'connected_gene': 'BEAN1', 'score': 22.33}, {'connected_gene': 'CKLF', 'score': 11.91}, {'connected_gene': 'CKLF-CMTM1', 'score': 11.91}, {'connected_gene': 'TK2', 'score': 11.91}, {'connected_gene': 'ENSG00000260851', 'score': 0.44}, {'connected_gene': 'GC16P066491', 'score': 0.37}]