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
ENST00000434724 [[11961984, 11967028], [11969617, 11969786], [11969942, 11970032], [11971263, 11971437], [11976871, 11976952], [11979037, 11979131], [11980327, 11980468], [11980633, 11980788], [11981426, 11981607], [11984918, 11984996], [11988810, 11988844], [11990414, 11990642], [11991696, 11991738], [11991850, 11991892], [12009225, 12009777]] [[11966975, 11967028], [11969617, 11969786], [11969942, 11970032], [11971263, 11971437], [11976871, 11976952], [11979037, 11979131], [11980327, 11980468], [11980633, 11980788], [11981426, 11981607], [11984918, 11984996], [11988810, 11988844], [11990414, 11990642], [11991696, 11991738], [11991850, 11991892], [12009225, 12009577]]
ENST00000439887 [[11966535, 11967028], [11969617, 11969786], [11969942, 11970032], [11971263, 11971437], [11976871, 11976952], [11979037, 11979131], [11980327, 11980468], [11980633, 11980788], [11981426, 11981607], [11984918, 11984996], [11988810, 11988844], [11990414, 11990639], [11991696, 11991738], [11991850, 11991892], [12009225, 12009735]] [[11966975, 11967028], [11969617, 11969786], [11969942, 11970032], [11971263, 11971437], [11976871, 11976952], [11979037, 11979131], [11980327, 11980468], [11980633, 11980788], [11981426, 11981607], [11984918, 11984996], [11988810, 11988844], [11990414, 11990639], [11991696, 11991738], [11991850, 11991892], [12009225, 12009577]]
ENST00000565267 [[11966538, 11967028], [11969617, 11969786], [11971263, 11971437], [11976871, 11976952], [11979037, 11979131], [11980327, 11980468], [11980633, 11980788], [11981426, 11981607], [11984918, 11984996], [11988810, 11988844], [11990414, 11990639], [11991696, 11991738]] [[11966975, 11967028], [11969617, 11969786], [11971263, 11971437], [11976871, 11976952], [11979037, 11979131], [11980327, 11980468], [11980633, 11980788], [11981426, 11981607], [11984918, 11984996], [11988810, 11988844], [11990414, 11990639], [11991696, 11991738]]
ENST00000563468 [[11966540, 11967028], [11969617, 11969786], [11969942, 11970032], [11971263, 11971437], [11976871, 11976952], [11979037, 11979131], [11980327, 11980468], [11980633, 11980788], [11981426, 11981607], [11984918, 11984996], [11988810, 11988844], [11990414, 11990642], [11991696, 11991745]] [[11966975, 11967028], [11969617, 11969786], [11969942, 11970032], [11971263, 11971437], [11976871, 11976952], [11979037, 11979131], [11980327, 11980468], [11980633, 11980788], [11981426, 11981607], [11984918, 11984996], [11988810, 11988844], [11990414, 11990642], [11991696, 11991718]]
ENST00000420576 [[11966975, 11967028], [11969617, 11969786], [11969942, 11970032], [11971263, 11971437], [11976871, 11976952], [11979037, 11979131], [11980327, 11980468], [11980633, 11980788], [11981426, 11981607], [11984918, 11984996], [11988810, 11988844], [11990414, 11990642], [11991696, 11991738], [11991850, 11991892], [12009898, 12009939]] [[11966975, 11967028], [11969617, 11969786], [11969942, 11970032], [11971263, 11971437], [11976871, 11976952], [11979037, 11979131], [11980327, 11980468], [11980633, 11980788], [11981426, 11981607], [11984918, 11984996], [11988810, 11988844], [11990414, 11990642], [11991696, 11991718]]
ENST00000564790 [[11974081, 11974128], [11976871, 11976952], [11979037, 11979131], [11980327, 11980468], [11980633, 11980761]] None
ENST00000562794 [[11976871, 11976952], [11979037, 11979131], [11980327, 11980468], [11980633, 11980818]] None
ENST00000568849 [[11981463, 11981607], [11984918, 11984996], [11988810, 11988844], [11990414, 11990642], [11991696, 11991738], [11991850, 11991892], [12008845, 12009067]] [[11981463, 11981607], [11984918, 11984996], [11988810, 11988844], [11990414, 11990642], [11991696, 11991738], [11991850, 11991892], [12008845, 12008876]]
ENST00000567631 [[11984649, 11984996], [11988810, 11989141]] None
ENST00000562169 [[11990472, 11990639], [11991696, 11991738], [11991850, 11991892], [12008845, 12009060]] [[11990472, 11990639], [11991696, 11991738], [11991850, 11991892], [12008845, 12008876]]
NM_002094 [[11961984, 11967028], [11969617, 11969786], [11969942, 11970032], [11971263, 11971437], [11976871, 11976952], [11979037, 11979131], [11980327, 11980468], [11980633, 11980788], [11981426, 11981607], [11984918, 11984996], [11988810, 11988844], [11990414, 11990642], [11991696, 11991738], [11991850, 11991892], [12009225, 12009825]] [[11966975, 11967028], [11969617, 11969786], [11969942, 11970032], [11971263, 11971437], [11976871, 11976952], [11979037, 11979131], [11980327, 11980468], [11980633, 11980788], [11981426, 11981607], [11984918, 11984996], [11988810, 11988844], [11990414, 11990642], [11991696, 11991738], [11991850, 11991892], [12009225, 12009577]]
NM_001130006 [[11961984, 11967028], [11969617, 11969786], [11969942, 11970032], [11971263, 11971437], [11976871, 11976952], [11979037, 11979131], [11980327, 11980468], [11980633, 11980788], [11981426, 11981607], [11984918, 11984996], [11988810, 11988844], [11990414, 11990639], [11991696, 11991738], [11991850, 11991892], [12009225, 12009825]] [[11966975, 11967028], [11969617, 11969786], [11969942, 11970032], [11971263, 11971437], [11976871, 11976952], [11979037, 11979131], [11980327, 11980468], [11980633, 11980788], [11981426, 11981607], [11984918, 11984996], [11988810, 11988844], [11990414, 11990639], [11991696, 11991738], [11991850, 11991892], [12009225, 12009577]]
NM_001130007 [[11961984, 11967028], [11969617, 11969786], [11969942, 11970032], [11971263, 11971437], [11976871, 11976952], [11979037, 11979131], [11980327, 11980468], [11980633, 11980788], [11981426, 11981607], [11984918, 11984996], [11988810, 11988844], [11990414, 11990642], [11991696, 11991738], [11991850, 11991892], [12009898, 12010519]] [[11966975, 11967028], [11969617, 11969786], [11969942, 11970032], [11971263, 11971437], [11976871, 11976952], [11979037, 11979131], [11980327, 11980468], [11980633, 11980788], [11981426, 11981607], [11984918, 11984996], [11988810, 11988844], [11990414, 11990642], [11991696, 11991718]]
Promoter
Chrom Start End Description
chr16 12009753 12009793 CAGE_peak_1_at_GSPT1_5end
chr16 12009795 12009830 CAGE_peak_2_at_GSPT1_5end
chr16 12009833 12009836 CAGE_peak_3_at_GSPT1_5end
chr16 12010508 12010516 CAGE_peak_12_at_GSPT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I011904 11904183 11904242 0.61 [{'connected_gene': 'COX6CP1', 'score': 550.77}, {'connected_gene': 'GC16M011903', 'score': 550.77}, {'connected_gene': 'GSPT1', 'score': 550.39}, {'connected_gene': 'ENSG00000261216', 'score': 0.77}]
chr16 GH16I011251 11251244 11258013 2.29 [{'connected_gene': 'SOCS1', 'score': 550.77}, {'connected_gene': 'RMI2', 'score': 33.45}, {'connected_gene': 'ENSG00000261560', 'score': 18.21}, {'connected_gene': 'RSL1D1', 'score': 13.77}, {'connected_gene': 'LOC105371084', 'score': 11.67}, {'connected_gene': 'GSPT1', 'score': 11.19}, {'connected_gene': 'HNRNPCP4', 'score': 10.92}, {'connected_gene': 'ZC3H7A', 'score': 10.34}, {'connected_gene': 'LOC105371083', 'score': 7.36}, {'connected_gene': 'LOC105371082', 'score': 0.44}, {'connected_gene': 'GC16P010485', 'score': 0.02}]
chr16 GH16I011975 11975428 11981797 2.27 [{'connected_gene': 'NPIPB2', 'score': 626.95}, {'connected_gene': 'SNX29', 'score': 550.77}, {'connected_gene': 'ENSG00000260488', 'score': 550.77}, {'connected_gene': 'ENSG00000261560', 'score': 12.68}, {'connected_gene': 'HNRNPCP4', 'score': 12.45}, {'connected_gene': 'LOC105371084', 'score': 11.07}, {'connected_gene': 'GSPT1', 'score': 5.37}, {'connected_gene': 'RPS23P6', 'score': 0.15}]
chr16 GH16I012004 12004014 12006076 0.43 [{'connected_gene': 'NPIPB2', 'score': 26.9}, {'connected_gene': 'TNFRSF17', 'score': 12.95}, {'connected_gene': 'GSPT1', 'score': 11.0}, {'connected_gene': 'SNX29', 'score': 0.31}, {'connected_gene': 'ENSG00000260488', 'score': 0.31}, {'connected_gene': 'RPS23P6', 'score': 0.18}]
chr16 GH16I012006 12006543 12008531 0.38 [{'connected_gene': 'NPIPB2', 'score': 29.48}, {'connected_gene': 'TNFRSF17', 'score': 12.34}, {'connected_gene': 'GSPT1', 'score': 10.92}, {'connected_gene': 'ENSG00000260488', 'score': 0.31}, {'connected_gene': 'SNX29', 'score': 0.29}, {'connected_gene': 'RPS23P6', 'score': 0.19}]
chr16 GH16I011988 11988166 11991545 0.68 [{'connected_gene': 'NPIPB2', 'score': 36.16}, {'connected_gene': 'GSPT1', 'score': 5.32}, {'connected_gene': 'SNX29', 'score': 0.39}, {'connected_gene': 'ENSG00000260488', 'score': 0.39}, {'connected_gene': 'RPS23P6', 'score': 0.16}]
chr16 GH16I011972 11972904 11974678 0.52 [{'connected_gene': 'NPIPB2', 'score': 11.4}, {'connected_gene': 'GSPT1', 'score': 8.83}, {'connected_gene': 'UBL5P4', 'score': 0.44}]
chr16 GH16I011910 11910125 11910803 0.38 [{'connected_gene': 'NPIPB2', 'score': 5.99}, {'connected_gene': 'PIR60564', 'score': 0.77}, {'connected_gene': 'ENSG00000261216', 'score': 0.77}, {'connected_gene': 'GSPT1', 'score': 0.44}]
chr16 GH16I011867 11867244 11868133 0.83 [{'connected_gene': 'TNFRSF17', 'score': 11.73}, {'connected_gene': 'NPIPB2', 'score': 11.72}, {'connected_gene': 'GSPT1', 'score': 11.34}, {'connected_gene': 'ENSG00000260488', 'score': 5.99}, {'connected_gene': 'ENSG00000261560', 'score': 0.39}, {'connected_gene': 'LOC105371084', 'score': 0.37}, {'connected_gene': 'RSL1D1', 'score': 0.37}]
chr16 GH16I011963 11963408 11967999 1.57 [{'connected_gene': 'TNFRSF17', 'score': 557.89}, {'connected_gene': 'LOC105371084', 'score': 18.06}, {'connected_gene': 'ENSG00000261560', 'score': 17.85}, {'connected_gene': 'HNRNPCP4', 'score': 17.24}, {'connected_gene': 'ZC3H7A', 'score': 12.73}, {'connected_gene': 'COX6CP1', 'score': 12.69}, {'connected_gene': 'ENSG00000261216', 'score': 11.89}, {'connected_gene': 'SOCS1', 'score': 11.32}, {'connected_gene': 'TXNDC11', 'score': 11.08}, {'connected_gene': 'ENSG00000260488', 'score': 10.25}, {'connected_gene': 'GSPT1', 'score': 9.38}, {'connected_gene': 'NPIPB2', 'score': 8.86}, {'connected_gene': 'UBL5P4', 'score': 0.77}]
chr16 GH16I011833 11833937 11838101 1.36 [{'connected_gene': 'GSPT1', 'score': 10.89}, {'connected_gene': 'NPIPB2', 'score': 8.07}, {'connected_gene': 'RSL1D1', 'score': 6.46}, {'connected_gene': 'ENSG00000261560', 'score': 5.71}, {'connected_gene': 'BCAR4', 'score': 0.44}, {'connected_gene': 'LOC105371084', 'score': 0.37}]
chr16 GH16I011913 11913139 11917738 2.13 [{'connected_gene': 'GSPT1', 'score': 556.42}, {'connected_gene': 'PIR60564', 'score': 550.77}, {'connected_gene': 'NPIPB2', 'score': 33.66}, {'connected_gene': 'LOC105371084', 'score': 21.06}, {'connected_gene': 'RSL1D1', 'score': 16.77}, {'connected_gene': 'HNRNPCP4', 'score': 12.47}, {'connected_gene': 'ENSG00000261560', 'score': 11.23}, {'connected_gene': 'TNFRSF17', 'score': 11.2}, {'connected_gene': 'SOCS1', 'score': 10.2}, {'connected_gene': 'ENSG00000260488', 'score': 6.48}]
chr16 GH16I011955 11955051 11957061 1.02 [{'connected_gene': 'GSPT1', 'score': 8.98}, {'connected_gene': 'ENSG00000260488', 'score': 6.89}, {'connected_gene': 'TNFRSF17', 'score': 0.44}, {'connected_gene': 'NPIPB2', 'score': 0.34}, {'connected_gene': 'ENSG00000277458', 'score': 0.31}]
chr16 GH16I011959 11959284 11959433 0.65 [{'connected_gene': 'GSPT1', 'score': 11.71}, {'connected_gene': 'TNFRSF17', 'score': 0.44}, {'connected_gene': 'NPIPB2', 'score': 0.37}, {'connected_gene': 'ENSG00000277458', 'score': 0.29}]
chr16 GH16I011949 11949244 11950352 0.93 [{'connected_gene': 'GSPT1', 'score': 9.05}, {'connected_gene': 'TNFRSF17', 'score': 0.37}, {'connected_gene': 'ENSG00000277458', 'score': 0.34}, {'connected_gene': 'NPIPB2', 'score': 0.31}]
chr16 GH16I011960 11959084 11959233 0.67 [{'connected_gene': 'GSPT1', 'score': 18.97}, {'connected_gene': 'TNFRSF17', 'score': 0.44}, {'connected_gene': 'NPIPB2', 'score': 0.37}, {'connected_gene': 'ENSG00000277458', 'score': 0.29}]
chr16 GH16I011861 11861313 11861592 0.22 [{'connected_gene': 'GSPT1', 'score': 11.31}, {'connected_gene': 'LOC105371084', 'score': 0.44}, {'connected_gene': 'RSL1D1', 'score': 0.44}, {'connected_gene': 'ENSG00000261560', 'score': 0.34}]
chr16 GH16I011857 11857304 11857453 0.75 [{'connected_gene': 'GSPT1', 'score': 11.04}, {'connected_gene': 'LOC105371084', 'score': 0.44}, {'connected_gene': 'RSL1D1', 'score': 0.44}, {'connected_gene': 'ENSG00000261560', 'score': 0.31}]
chr16 GH16I011866 11866701 11866891 0.47 [{'connected_gene': 'GSPT1', 'score': 11.34}, {'connected_gene': 'LOC105371084', 'score': 0.37}, {'connected_gene': 'ENSG00000261560', 'score': 0.37}, {'connected_gene': 'RSL1D1', 'score': 0.37}]
chr16 GH16I011896 11896308 11897456 0.31 [{'connected_gene': 'RSL1D1', 'score': 16.98}, {'connected_gene': 'TNFRSF17', 'score': 10.95}, {'connected_gene': 'NPIPB2', 'score': 10.93}, {'connected_gene': 'GC16M011903', 'score': 0.44}, {'connected_gene': 'ENSG00000261560', 'score': 0.39}, {'connected_gene': 'GSPT1', 'score': 0.37}, {'connected_gene': 'LOC105371084', 'score': 0.25}]
chr16 GH16I011874 11874290 11874487 0.44 [{'connected_gene': 'RSL1D1', 'score': 12.66}, {'connected_gene': 'GSPT1', 'score': 11.59}, {'connected_gene': 'ZC3H7A', 'score': 1.58}, {'connected_gene': 'ENSG00000261560', 'score': 0.44}, {'connected_gene': 'LOC105371084', 'score': 0.34}]
chr16 GH16I011344 11344484 11346262 2.23 [{'connected_gene': 'RMI2', 'score': 596.62}, {'connected_gene': 'LOC105371083', 'score': 560.21}, {'connected_gene': 'LOC105371084', 'score': 22.97}, {'connected_gene': 'ENSG00000261560', 'score': 21.41}, {'connected_gene': 'GSPT1', 'score': 19.32}, {'connected_gene': 'ZC3H7A', 'score': 18.53}, {'connected_gene': 'SOCS1', 'score': 15.01}, {'connected_gene': 'HNRNPCP4', 'score': 14.41}, {'connected_gene': 'RSL1D1', 'score': 13.77}, {'connected_gene': 'PRM2', 'score': 12.31}, {'connected_gene': 'TXNDC11', 'score': 12.2}, {'connected_gene': 'COX6CP1', 'score': 11.49}, {'connected_gene': 'NPIPB2', 'score': 11.38}, {'connected_gene': 'NUBP1', 'score': 10.32}, {'connected_gene': 'PRM1', 'score': 10.12}, {'connected_gene': 'ENSG00000261216', 'score': 10.05}, {'connected_gene': 'ENSG00000262703', 'score': 0.77}, {'connected_gene': 'LOC105371082', 'score': 0.15}, {'connected_gene': 'GC16P010485', 'score': 0.03}]
chr16 GH16I011969 11969382 11971673 0.49 [{'connected_gene': 'UBL5P4', 'score': 550.77}, {'connected_gene': 'GSPT1', 'score': 9.33}, {'connected_gene': 'NPIPB2', 'score': 0.44}]
chr16 GH16I012077 12077580 12081614 0.97 [{'connected_gene': 'RPS23P6', 'score': 550.77}, {'connected_gene': 'GSPT1', 'score': 10.87}, {'connected_gene': 'SNX29', 'score': 7.49}, {'connected_gene': 'LOC642696', 'score': 6.17}, {'connected_gene': 'ENSG00000260488', 'score': 0.15}]
chr16 GH16I012081 12081988 12082597 0.4 [{'connected_gene': 'RPS23P6', 'score': 550.77}, {'connected_gene': 'GSPT1', 'score': 10.44}, {'connected_gene': 'LOC642696', 'score': 5.55}, {'connected_gene': 'SNX29', 'score': 0.14}]

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