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
ENST00000310924 [[77906141, 77914906], [77915858, 77916005], [77918706, 77918886], [77921443, 77921630], [77922670, 77922805], [77923515, 77923664], [77924209, 77924377], [77925248, 77925396], [77926455, 77926617], [77983958, 77984556], [77987165, 77987408], [78009593, 78009647]] [[77914657, 77914906], [77915858, 77916005], [77918706, 77918886], [77921443, 77921630], [77922670, 77922805], [77923515, 77923664], [77924209, 77924377], [77925248, 77925396], [77926455, 77926617], [77983958, 77984556], [77987165, 77987346]]
ENST00000576768 [[77909590, 77914906], [77915858, 77916005], [77918706, 77918886], [77921443, 77921630], [77922670, 77922805], [77923515, 77923622], [77924209, 77924377], [77924554, 77924656]] [[77914657, 77914906], [77915858, 77916005], [77918706, 77918886], [77921443, 77921630], [77922670, 77922805], [77923515, 77923622], [77924209, 77924377], [77924554, 77924560]]
ENST00000340848 [[77911706, 77914906], [77915858, 77916005], [77918706, 77918886], [77921443, 77921630], [77922670, 77922805], [77923515, 77923664], [77924209, 77924374], [77924554, 77924635]] [[77914657, 77914906], [77915858, 77916005], [77918706, 77918886], [77921443, 77921630], [77922670, 77922805], [77923515, 77923664], [77924209, 77924374], [77924554, 77924560]]
ENST00000572862 [[77917654, 77917906], [77918706, 77918886], [77921443, 77921630], [77922670, 77922805], [77923515, 77923664], [77924209, 77924374], [77924554, 77924627]] [[77917891, 77917906], [77918706, 77918886], [77921443, 77921630], [77922670, 77922805], [77923515, 77923664], [77924209, 77924374], [77924554, 77924560]]
ENST00000570373 [[77917843, 77917906], [77918706, 77918886], [77921443, 77921630], [77922670, 77922805], [77923515, 77923664], [77924209, 77924377], [77924554, 77924633]] [[77917891, 77917906], [77918706, 77918886], [77921443, 77921630], [77922670, 77922805], [77923515, 77923664], [77924209, 77924377], [77924554, 77924560]]
ENST00000574241 [[77921443, 77921630], [77922670, 77922805], [77923515, 77923622], [77924209, 77924374], [77925248, 77925396], [77925784, 77925812]] [[77921443, 77921630], [77922670, 77922805], [77923515, 77923622], [77924209, 77924374], [77925248, 77925396], [77925784, 77925812]]
ENST00000573782 [[77921446, 77921630], [77922670, 77922805], [77923515, 77923622], [77924209, 77924393], [77924554, 77924629]] [[77921446, 77921630], [77922670, 77922805], [77923515, 77923622], [77924209, 77924353]]
ENST00000574427 [[77921493, 77921630], [77922670, 77922805], [77923515, 77923664], [77924209, 77924393], [77924554, 77924632]] [[77921493, 77921630], [77922670, 77922805], [77923515, 77923664], [77924209, 77924353]]
ENST00000571872 [[77924369, 77924377], [77925248, 77925396], [77925784, 77925994], [77926455, 77926617], [77967394, 77967433]] [[77924369, 77924377], [77925248, 77925396], [77925784, 77925994], [77926455, 77926481]]
NM_019020 [[77906141, 77914906], [77915858, 77916005], [77918706, 77918886], [77921443, 77921630], [77922670, 77922805], [77923515, 77923664], [77924209, 77924377], [77925248, 77925396], [77926455, 77926617], [77983958, 77984556], [77987165, 77987408], [78009593, 78009657]] [[77914657, 77914906], [77915858, 77916005], [77918706, 77918886], [77921443, 77921630], [77922670, 77922805], [77923515, 77923664], [77924209, 77924377], [77925248, 77925396], [77926455, 77926617], [77983958, 77984556], [77987165, 77987346]]
NM_001271844 [[77906141, 77914906], [77915858, 77916005], [77918706, 77918886], [77921443, 77921630], [77922670, 77922805], [77923515, 77923622], [77924209, 77924377], [77924554, 77924656]] [[77914657, 77914906], [77915858, 77916005], [77918706, 77918886], [77921443, 77921630], [77922670, 77922805], [77923515, 77923622], [77924209, 77924377], [77924554, 77924560]]
NM_001271845 [[77906141, 77914906], [77915858, 77916005], [77918706, 77918886], [77921443, 77921630], [77922670, 77922805], [77923515, 77923664], [77924209, 77924374], [77924554, 77924656]] [[77914657, 77914906], [77915858, 77916005], [77918706, 77918886], [77921443, 77921630], [77922670, 77922805], [77923515, 77923664], [77924209, 77924374], [77924554, 77924560]]
NM_001271846 [[77917651, 77917906], [77918706, 77918886], [77921443, 77921630], [77922670, 77922805], [77923515, 77923664], [77924209, 77924374], [77924554, 77924656]] [[77917891, 77917906], [77918706, 77918886], [77921443, 77921630], [77922670, 77922805], [77923515, 77923664], [77924209, 77924374], [77924554, 77924560]]
Promoter
Chrom Start End Description
chr17 77924634 77924661 CAGE_peak_2_at_TBC1D16_5end
chr17 77924675 77924686 CAGE_peak_3_at_TBC1D16_5end
chr17 77924692 77924709 CAGE_peak_4_at_TBC1D16_5end
chr17 78009662 78009681 CAGE_peak_1_at_TBC1D16_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I079984 79984528 79995585 2.3 [{'connected_gene': 'EIF4A3', 'score': 25.29}, {'connected_gene': 'CCDC40', 'score': 23.25}, {'connected_gene': 'ENGASE', 'score': 14.06}, {'connected_gene': 'CBX2', 'score': 13.73}, {'connected_gene': 'TBC1D16', 'score': 11.96}, {'connected_gene': 'LOC100294362', 'score': 11.2}, {'connected_gene': 'ENDOV', 'score': 10.82}, {'connected_gene': 'SGSH', 'score': 9.93}, {'connected_gene': 'CANT1', 'score': 9.69}, {'connected_gene': 'ENSG00000262580', 'score': 5.5}, {'connected_gene': 'CBX4', 'score': 3.89}, {'connected_gene': 'CBX8', 'score': 2.16}, {'connected_gene': 'GAA', 'score': 1.26}, {'connected_gene': 'RNF213', 'score': 1.14}, {'connected_gene': 'ENSG00000262172', 'score': 0.77}, {'connected_gene': 'GC17P079977', 'score': 0.39}]
chr17 GH17I080018 80018700 80020871 1.04 [{'connected_gene': 'EIF4A3', 'score': 11.14}, {'connected_gene': 'CCDC40', 'score': 8.2}, {'connected_gene': 'GAA', 'score': 4.95}, {'connected_gene': 'ENSG00000261978', 'score': 0.77}, {'connected_gene': 'PIR44772', 'score': 0.39}, {'connected_gene': 'GC17P080013', 'score': 0.39}, {'connected_gene': 'TBC1D16', 'score': 0.37}]
chr17 GH17I080068 80068338 80072096 1.13 [{'connected_gene': 'EIF4A3', 'score': 26.37}, {'connected_gene': 'GAA', 'score': 25.87}, {'connected_gene': 'CCDC40', 'score': 20.41}, {'connected_gene': 'TBC1D16', 'score': 12.58}, {'connected_gene': 'CBX2', 'score': 9.87}, {'connected_gene': 'MIR1268B', 'score': 0.31}, {'connected_gene': 'GC17P080040', 'score': 0.31}]
chr17 GH17I080021 80021416 80022210 0.62 [{'connected_gene': 'EIF4A3', 'score': 24.71}, {'connected_gene': 'ENSG00000261978', 'score': 0.77}, {'connected_gene': 'PIR44772', 'score': 0.39}, {'connected_gene': 'GC17P080013', 'score': 0.39}, {'connected_gene': 'TBC1D16', 'score': 0.39}]
chr17 GH17I079960 79960684 79961708 0.56 [{'connected_gene': 'CBX4', 'score': 11.52}, {'connected_gene': 'CBX2', 'score': 10.96}, {'connected_gene': 'ENSG00000275516', 'score': 0.44}, {'connected_gene': 'GC17P079977', 'score': 0.37}, {'connected_gene': 'TBC1D16', 'score': 0.19}]
chr17 GH17I079965 79965484 79966408 0.2 [{'connected_gene': 'CBX4', 'score': 11.53}, {'connected_gene': 'CBX2', 'score': 10.96}, {'connected_gene': 'GC17P079977', 'score': 0.39}, {'connected_gene': 'ENSG00000275516', 'score': 0.39}, {'connected_gene': 'TBC1D16', 'score': 0.2}]
chr17 GH17I079954 79954183 79955394 0.46 [{'connected_gene': 'CBX4', 'score': 11.29}, {'connected_gene': 'ENSG00000275516', 'score': 0.77}, {'connected_gene': 'GC17P079977', 'score': 0.34}, {'connected_gene': 'TBC1D16', 'score': 0.18}]
chr17 GH17I079943 79943580 79944803 0.43 [{'connected_gene': 'CBX4', 'score': 11.66}, {'connected_gene': 'PIR49167', 'score': 0.77}, {'connected_gene': 'GC17P079941', 'score': 0.77}, {'connected_gene': 'TBC1D16', 'score': 0.16}]
chr17 GH17I079944 79944813 79946235 0.31 [{'connected_gene': 'CBX4', 'score': 11.66}, {'connected_gene': 'CANT1', 'score': 4.64}, {'connected_gene': 'PIR49167', 'score': 0.77}, {'connected_gene': 'GC17P079941', 'score': 0.77}, {'connected_gene': 'TBC1D16', 'score': 0.16}]
chr17 GH17I079982 79981021 79981812 0.2 [{'connected_gene': 'CBX2', 'score': 11.96}, {'connected_gene': 'GC17P079977', 'score': 0.77}, {'connected_gene': 'ENSG00000262172', 'score': 0.39}, {'connected_gene': 'TBC1D16', 'score': 0.23}]
chr17 GH17I079979 79979845 79980160 0.31 [{'connected_gene': 'CBX2', 'score': 11.96}, {'connected_gene': 'GC17P079977', 'score': 0.77}, {'connected_gene': 'ENSG00000262172', 'score': 0.39}, {'connected_gene': 'TBC1D16', 'score': 0.22}]
chr17 GH17I079981 79981838 79982571 0.4 [{'connected_gene': 'CBX2', 'score': 11.95}, {'connected_gene': 'GC17P079977', 'score': 0.44}, {'connected_gene': 'ENSG00000262172', 'score': 0.39}, {'connected_gene': 'TBC1D16', 'score': 0.23}]
chr17 GH17I079996 79996188 79998467 1.11 [{'connected_gene': 'CCDC40', 'score': 6.69}, {'connected_gene': 'EIF4A3', 'score': 5.17}, {'connected_gene': 'ENGASE', 'score': 4.77}, {'connected_gene': 'RNF213', 'score': 4.57}, {'connected_gene': 'GAA', 'score': 3.46}, {'connected_gene': 'CBX4', 'score': 2.59}, {'connected_gene': 'SGSH', 'score': 2.54}, {'connected_gene': 'ENSG00000262172', 'score': 0.77}, {'connected_gene': 'PIR41919', 'score': 0.44}, {'connected_gene': 'TBC1D16', 'score': 0.28}]
chr17 GH17I080028 80028168 80031655 1.2 [{'connected_gene': 'CCDC40', 'score': 37.58}, {'connected_gene': 'EIF4A3', 'score': 10.64}, {'connected_gene': 'TBC1D16', 'score': 5.89}, {'connected_gene': 'GAA', 'score': 5.73}, {'connected_gene': 'ENSG00000262580', 'score': 5.1}, {'connected_gene': 'ENSG00000261978', 'score': 0.44}]
chr17 GH17I080064 80064091 80064860 1.03 [{'connected_gene': 'CCDC40', 'score': 13.6}, {'connected_gene': 'CARD14', 'score': 11.46}, {'connected_gene': 'EIF4A3', 'score': 11.23}, {'connected_gene': 'TBC1D16', 'score': 5.12}, {'connected_gene': 'GC17P080040', 'score': 0.34}, {'connected_gene': 'MIR1268B', 'score': 0.29}]
chr17 GH17I080034 80034689 80037498 2.21 [{'connected_gene': 'CCDC40', 'score': 590.38}, {'connected_gene': 'TBC1D16', 'score': 566.49}, {'connected_gene': 'GAA', 'score': 11.29}]
chr17 GH17I080109 80109722 80109891 0.46 [{'connected_gene': 'GAA', 'score': 39.52}, {'connected_gene': 'EIF4A3', 'score': 11.91}, {'connected_gene': 'CARD14', 'score': 11.68}, {'connected_gene': 'TBC1D16', 'score': 11.15}, {'connected_gene': 'CCDC40', 'score': 11.15}, {'connected_gene': 'GC17M080103', 'score': 0.77}, {'connected_gene': 'GC17P080128', 'score': 0.37}]
chr17 GH17I080065 80065271 80066380 0.31 [{'connected_gene': 'GAA', 'score': 19.86}, {'connected_gene': 'CARD14', 'score': 11.47}, {'connected_gene': 'EIF4A3', 'score': 11.23}, {'connected_gene': 'TBC1D16', 'score': 6.63}, {'connected_gene': 'GC17P080040', 'score': 0.31}, {'connected_gene': 'CCDC40', 'score': 0.31}, {'connected_gene': 'MIR1268B', 'score': 0.29}]
chr17 GH17I079923 79923139 79934231 1.62 [{'connected_gene': 'LINC01979', 'score': 557.95}, {'connected_gene': 'TBC1D16', 'score': 8.46}, {'connected_gene': 'CBX2', 'score': 4.68}, {'connected_gene': 'GC17M079934', 'score': 0.44}, {'connected_gene': 'PIR34246', 'score': 0.44}, {'connected_gene': 'LINC01978', 'score': 0.44}]
chr17 GH17I079937 79937001 79938191 1.08 [{'connected_gene': 'GC17M079934', 'score': 550.77}, {'connected_gene': 'PIR34246', 'score': 550.77}, {'connected_gene': 'EIF4A3', 'score': 9.84}, {'connected_gene': 'TBC1D16', 'score': 8.72}]
chr17 GH17I079936 79936642 79936791 0.63 [{'connected_gene': 'GC17M079934', 'score': 550.77}, {'connected_gene': 'PIR34246', 'score': 550.77}, {'connected_gene': 'EIF4A3', 'score': 9.84}, {'connected_gene': 'TBC1D16', 'score': 0.15}]
chr17 GH17I079942 79942119 79943491 1.3 [{'connected_gene': 'GC17P079941', 'score': 550.77}, {'connected_gene': 'CBX4', 'score': 11.66}, {'connected_gene': 'SGSH', 'score': 5.04}, {'connected_gene': 'PIR49167', 'score': 0.44}, {'connected_gene': 'TBC1D16', 'score': 0.16}]
chr17 GH17I079947 79947038 79948095 0.4 [{'connected_gene': 'PIR49167', 'score': 550.77}, {'connected_gene': 'CBX4', 'score': 11.66}, {'connected_gene': 'GC17P079941', 'score': 0.44}, {'connected_gene': 'TBC1D16', 'score': 0.17}]
chr17 GH17I079977 79977317 79979379 0.69 [{'connected_gene': 'GC17P079977', 'score': 550.77}, {'connected_gene': 'CBX2', 'score': 11.96}, {'connected_gene': 'ENSG00000262172', 'score': 0.39}, {'connected_gene': 'TBC1D16', 'score': 0.22}]
chr17 GH17I080022 80022855 80027076 1.33 [{'connected_gene': 'ENSG00000261978', 'score': 550.77}, {'connected_gene': 'CCDC40', 'score': 33.77}, {'connected_gene': 'EIF4A3', 'score': 25.89}, {'connected_gene': 'GAA', 'score': 11.13}, {'connected_gene': 'CHMP6', 'score': 10.27}, {'connected_gene': 'TBC1D16', 'score': 5.49}]
chr17 GH17I080005 80005422 80006772 1.5 [{'connected_gene': 'PIR51050', 'score': 550.77}, {'connected_gene': 'PIR50563', 'score': 550.77}, {'connected_gene': 'PIR41919', 'score': 550.77}, {'connected_gene': 'GC17P080012', 'score': 550.77}, {'connected_gene': 'PIR38024', 'score': 550.77}, {'connected_gene': 'GC17P080014', 'score': 550.77}, {'connected_gene': 'GC17P080015', 'score': 550.77}, {'connected_gene': 'CCDC40', 'score': 5.72}, {'connected_gene': 'ENGASE', 'score': 5.04}, {'connected_gene': 'TBC1D16', 'score': 0.31}]
chr17 GH17I080453 80453301 80458286 2.05 [{'connected_gene': 'ENSG00000260369', 'score': 550.77}, {'connected_gene': 'CEP131', 'score': 22.43}, {'connected_gene': 'TEPSIN', 'score': 13.64}, {'connected_gene': 'TBC1D16', 'score': 11.47}, {'connected_gene': 'LOC105371925', 'score': 10.61}, {'connected_gene': 'CBX8', 'score': 10.07}, {'connected_gene': 'NPTX1', 'score': 6.54}, {'connected_gene': 'EIF4A3', 'score': 6.4}, {'connected_gene': 'SGSH', 'score': 4.38}, {'connected_gene': 'GAA', 'score': 2.02}, {'connected_gene': 'SLC26A11', 'score': 1.18}, {'connected_gene': 'ENSG00000279273', 'score': 0.44}]
chr17 GH17I079934 79934522 79934544 0.51 [{'connected_gene': 'PIR34246', 'score': 550.77}, {'connected_gene': 'TBC1D16', 'score': 8.39}, {'connected_gene': 'GC17M079934', 'score': 0.77}, {'connected_gene': 'LINC01979', 'score': 0.44}]
chr17 GH17I079948 79948470 79953634 1.62 [{'connected_gene': 'ENSG00000275516', 'score': 550.77}, {'connected_gene': 'TBC1D16', 'score': 550.18}, {'connected_gene': 'LOC100294362', 'score': 14.26}, {'connected_gene': 'ENDOV', 'score': 12.97}, {'connected_gene': 'CBX4', 'score': 11.3}, {'connected_gene': 'CBX2', 'score': 11.27}, {'connected_gene': 'CCDC40', 'score': 10.63}, {'connected_gene': 'PIR49167', 'score': 0.77}, {'connected_gene': 'GC17P079941', 'score': 0.44}]
chr17 GH17I079969 79969602 79970968 0.63 [{'connected_gene': 'GC17P079977', 'score': 0.44}, {'connected_gene': 'ENSG00000275516', 'score': 0.37}, {'connected_gene': 'TBC1D16', 'score': 0.2}]
chr17 GH17I080008 80008042 80009057 1.15 [{'connected_gene': 'PIR51050', 'score': 550.77}, {'connected_gene': 'PIR50563', 'score': 550.77}, {'connected_gene': 'GC17P080012', 'score': 550.77}, {'connected_gene': 'PIR38024', 'score': 550.77}, {'connected_gene': 'GC17P080013', 'score': 550.77}, {'connected_gene': 'GC17P080014', 'score': 550.77}, {'connected_gene': 'PIR44772', 'score': 550.77}, {'connected_gene': 'GC17P080015', 'score': 550.77}, {'connected_gene': 'ENSG00000261978', 'score': 0.37}, {'connected_gene': 'TBC1D16', 'score': 0.31}]
chr17 GH17I079974 79974693 79975598 0.65 [{'connected_gene': 'GC17P079977', 'score': 550.77}, {'connected_gene': 'ENSG00000275516', 'score': 0.34}, {'connected_gene': 'TBC1D16', 'score': 0.21}]
chr17 GH17I079938 79938862 79938931 0.77 [{'connected_gene': 'GC17M079934', 'score': 550.77}, {'connected_gene': 'GC17P079941', 'score': 0.77}, {'connected_gene': 'TBC1D16', 'score': 0.15}]
chr17 GH17I080013 80013042 80013191 0.4 [{'connected_gene': 'PIR44772', 'score': 0.77}, {'connected_gene': 'GC17P080013', 'score': 0.77}, {'connected_gene': 'ENSG00000261978', 'score': 0.39}, {'connected_gene': 'TBC1D16', 'score': 0.34}]
chr17 GH17I080000 80000327 80001802 0.58 [{'connected_gene': 'PIR41919', 'score': 0.77}, {'connected_gene': 'ENSG00000262172', 'score': 0.44}, {'connected_gene': 'TBC1D16', 'score': 0.29}]
chr17 GH17I080016 80016551 80016623 0.25 [{'connected_gene': 'ENSG00000261978', 'score': 0.44}, {'connected_gene': 'PIR44772', 'score': 0.44}, {'connected_gene': 'GC17P080013', 'score': 0.44}, {'connected_gene': 'TBC1D16', 'score': 0.37}]
chr17 GH17I079995 79995802 79996073 0.4 [{'connected_gene': 'ENSG00000262172', 'score': 0.77}, {'connected_gene': 'PIR41919', 'score': 0.44}, {'connected_gene': 'TBC1D16', 'score': 0.28}]
chr17 GH17I080001 80001879 80003767 0.77 [{'connected_gene': 'PIR41919', 'score': 0.77}, {'connected_gene': 'ENSG00000262172', 'score': 0.44}, {'connected_gene': 'TBC1D16', 'score': 0.29}]

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