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
ENST00000302003 [[9791627, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9798727, 9799091]] [[9791970, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9798727, 9799012]]
ENST00000344629 [[9791627, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9798744, 9799197]] [[9791970, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9798744, 9798834]]
ENST00000349503 [[9791627, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9807492, 9808352]] [[9791970, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9807492, 9807819]]
ENST00000302036 [[9791627, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9807492, 9808421]] [[9791970, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9807492, 9807819]]
ENST00000339511 [[9791664, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9799061]] [[9791970, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798527]]
ENST00000436092 [[9791701, 9792107], [9792348, 9792756]] None
ENST00000449570 [[9791755, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9800917, 9800970], [9807492, 9808224]] [[9791970, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9800917, 9800938]]
ENST00000302008 [[9791756, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9800870, 9800970], [9807492, 9808421]] [[9791970, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9800870, 9800970], [9807492, 9807515]]
ENST00000425665 [[9791766, 9792107], [9798154, 9798305], [9798450, 9798888]] [[9791970, 9792107], [9798154, 9798176]]
ENST00000383826 [[9791770, 9792107], [9792628, 9792876], [9793453, 9793633], [9807492, 9807796]] [[9791970, 9792107], [9792628, 9792876], [9793453, 9793633], [9807492, 9807515]]
ENST00000441094 [[9792029, 9792107], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798719]] [[9792029, 9792107], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798527]]
ENST00000429146 [[9792038, 9792107], [9792628, 9792876], [9793453, 9793633], [9798154, 9798305], [9798450, 9798549]] [[9792038, 9792107], [9792628, 9792876], [9793453, 9793633], [9798154, 9798162]]
ENST00000432857 [[9792647, 9792876], [9793453, 9793778]] None
ENST00000426518 [[9792762, 9792876], [9793453, 9793633], [9823196, 9823284], [9829411, 9829903]] [[9792762, 9792876], [9793453, 9793633], [9823196, 9823284], [9829411, 9829415]]
ENST00000352937 [[9792775, 9792876], [9793453, 9793633], [9796387, 9796569], [9807492, 9808421]] [[9792775, 9792876], [9793453, 9793633], [9796387, 9796569], [9807492, 9807819]]
ENST00000416333 [[9793586, 9793633], [9798154, 9798305], [9798450, 9798500], [9798727, 9798875]] [[9793586, 9793633], [9798154, 9798305], [9798450, 9798500], [9798727, 9798875]]
ENST00000383825 [[9793586, 9793633], [9798450, 9798875]] None
ENST00000602976 [[9799031, 9804008]] None
NM_002542 [[9791627, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9798744, 9799091]] [[9791970, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9798744, 9798834]]
NM_016820 [[9791627, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9798727, 9799091]] [[9791970, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9798727, 9799012]]
NM_016819 [[9791627, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9799091]] [[9791970, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798527]]
NM_016827 [[9791627, 9792107], [9792628, 9792876], [9793453, 9793633], [9807492, 9808353]] [[9791970, 9792107], [9792628, 9792876], [9793453, 9793633], [9807492, 9807515]]
NM_016826 [[9791627, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9807492, 9808353]] [[9791970, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9807492, 9807819]]
NM_016821 [[9791627, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9807492, 9808353]] [[9791970, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9807492, 9807819]]
NM_016829 [[9791627, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9800917, 9800970], [9807492, 9808353]] [[9791970, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9800917, 9800938]]
NM_016828 [[9791627, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9800870, 9800970], [9807492, 9808353]] [[9791970, 9792107], [9792628, 9792876], [9793453, 9793633], [9796387, 9796569], [9798154, 9798305], [9798450, 9798500], [9800870, 9800970], [9807492, 9807515]]
Promoter
Chrom Start End Description
chr3 9791621 9791696 CAGE_peak_2_at_OGG1_5end
chr3 9791731 9791753 CAGE_peak_3_at_OGG1_5end
chr3 9791787 9791796 CAGE_peak_7_at_OGG1_5end
chr3 9791936 9792006 CAGE_peak_1_at_OGG1_5end
chr3 9792007 9792027 CAGE_peak_4_at_OGG1_5end
chr3 9792040 9792050 CAGE_peak_5_at_OGG1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I010505 10505813 10508616 0.87 [{'connected_gene': 'TATDN2', 'score': 12.98}, {'connected_gene': 'EMC3-AS1', 'score': 12.79}, {'connected_gene': 'OGG1', 'score': 10.49}, {'connected_gene': 'GC03M010552', 'score': 0.25}, {'connected_gene': 'GC03P010586', 'score': 0.18}, {'connected_gene': 'ATP2B2', 'score': 0.08}]
chr3 GH03I009768 9768194 9771286 1.94 [{'connected_gene': 'CAMK1', 'score': 550.77}, {'connected_gene': 'BRK1', 'score': 12.82}, {'connected_gene': 'PRRT3', 'score': 11.21}, {'connected_gene': 'TTLL3', 'score': 9.62}, {'connected_gene': 'RPUSD3', 'score': 6.55}, {'connected_gene': 'OGG1', 'score': 0.37}]
chr3 GH03I009861 9861190 9866062 1.62 [{'connected_gene': 'IL17RC', 'score': 37.28}, {'connected_gene': 'JAGN1', 'score': 33.62}, {'connected_gene': 'CIDEC', 'score': 25.99}, {'connected_gene': 'TADA3', 'score': 14.1}, {'connected_gene': 'IL17RE', 'score': 13.67}, {'connected_gene': 'FANCD2', 'score': 13.55}, {'connected_gene': 'ARPC4', 'score': 12.18}, {'connected_gene': 'RNU6-882P', 'score': 11.98}, {'connected_gene': 'THUMPD3', 'score': 11.85}, {'connected_gene': 'TTLL3', 'score': 11.12}, {'connected_gene': 'BRPF1', 'score': 11.06}, {'connected_gene': 'ARPC4-TTLL3', 'score': 10.72}, {'connected_gene': 'CAMK1', 'score': 10.51}, {'connected_gene': 'CPNE9', 'score': 10.32}, {'connected_gene': 'FANCD2OS', 'score': 10.28}, {'connected_gene': 'CRELD1', 'score': 6.65}, {'connected_gene': 'RPUSD3', 'score': 1.77}, {'connected_gene': 'OGG1', 'score': 1.31}, {'connected_gene': 'MARK2P1', 'score': 0.44}, {'connected_gene': 'GC03M009835', 'score': 0.23}]
chr3 GH03I009394 9394089 9403893 2.34 [{'connected_gene': 'SETD5', 'score': 635.98}, {'connected_gene': 'THUMPD3-AS1', 'score': 577.65}, {'connected_gene': 'GC03P009403', 'score': 550.77}, {'connected_gene': 'BRPF1', 'score': 126.97}, {'connected_gene': 'RAD18', 'score': 89.41}, {'connected_gene': 'GHRLOS', 'score': 40.99}, {'connected_gene': 'TTLL3', 'score': 40.01}, {'connected_gene': 'FANCD2', 'score': 39.59}, {'connected_gene': 'JAGN1', 'score': 31.13}, {'connected_gene': 'SEC13', 'score': 29.09}, {'connected_gene': 'SRGAP3', 'score': 21.03}, {'connected_gene': 'THUMPD3', 'score': 20.58}, {'connected_gene': 'LINC00852', 'score': 18.9}, {'connected_gene': 'TATDN2', 'score': 12.94}, {'connected_gene': 'EMC3-AS1', 'score': 12.79}, {'connected_gene': 'BRK1', 'score': 11.02}, {'connected_gene': 'ENSG00000269886', 'score': 10.92}, {'connected_gene': 'RPUSD3', 'score': 10.77}, {'connected_gene': 'OGG1', 'score': 10.51}]
chr3 GH03I009751 9751814 9751854 0.46 [{'connected_gene': 'OGG1', 'score': 550.77}, {'connected_gene': 'CAMK1', 'score': 0.37}]
chr3 GH03I009752 9752047 9752587 0.52 [{'connected_gene': 'OGG1', 'score': 0.77}, {'connected_gene': 'CAMK1', 'score': 0.37}]
chr3 GH03I009745 9745710 9751629 2.08 [{'connected_gene': 'OGG1', 'score': 550.77}, {'connected_gene': 'BRPF1', 'score': 20.14}, {'connected_gene': 'GHRLOS', 'score': 13.13}, {'connected_gene': 'RAD18', 'score': 11.74}, {'connected_gene': 'SETD5', 'score': 11.09}, {'connected_gene': 'SEC13', 'score': 10.95}, {'connected_gene': 'THUMPD3-AS1', 'score': 9.94}, {'connected_gene': 'FANCD2', 'score': 9.7}, {'connected_gene': 'TADA3', 'score': 6.28}, {'connected_gene': 'ARPC4', 'score': 5.23}, {'connected_gene': 'RPUSD3', 'score': 4.77}]
chr3 GH03I009787 9787354 9788129 0.6 [{'connected_gene': 'TTLL3', 'score': 10.14}, {'connected_gene': 'ARPC4', 'score': 0.77}, {'connected_gene': 'TADA3', 'score': 0.44}, {'connected_gene': 'CAMK1', 'score': 0.37}, {'connected_gene': 'OGG1', 'score': 0.28}]
chr3 GH03I010188 10188774 10200915 1.86 [{'connected_gene': 'BRPF1', 'score': 82.83}, {'connected_gene': 'SETD5', 'score': 73.25}, {'connected_gene': 'IRAK2', 'score': 60.93}, {'connected_gene': 'GHRLOS', 'score': 48.14}, {'connected_gene': 'LINC00852', 'score': 30.38}, {'connected_gene': 'TATDN2', 'score': 26.94}, {'connected_gene': 'FANCD2', 'score': 22.57}, {'connected_gene': 'GHRL', 'score': 19.15}, {'connected_gene': 'TTLL3', 'score': 18.85}, {'connected_gene': 'SEC13', 'score': 18.54}, {'connected_gene': 'VHL', 'score': 18.5}, {'connected_gene': 'JAGN1', 'score': 13.72}, {'connected_gene': 'EMC3-AS1', 'score': 12.84}, {'connected_gene': 'CYCSP10', 'score': 12.78}, {'connected_gene': 'ENSG00000206567', 'score': 11.58}, {'connected_gene': 'THUMPD3', 'score': 11.34}, {'connected_gene': 'FANCD2OS', 'score': 11.3}, {'connected_gene': 'PRRT3', 'score': 11.19}, {'connected_gene': 'BRK1', 'score': 10.76}, {'connected_gene': 'ENSG00000269894', 'score': 10.57}, {'connected_gene': 'OGG1', 'score': 10.5}, {'connected_gene': 'RPUSD3', 'score': 10.16}, {'connected_gene': 'THUMPD3-AS1', 'score': 10.12}, {'connected_gene': 'CAMK1', 'score': 5.94}, {'connected_gene': 'ARPC4', 'score': 1.57}, {'connected_gene': 'GC03M010202', 'score': 0.39}]
chr3 GH03I009730 9730529 9733538 2.12 [{'connected_gene': 'BRPF1', 'score': 592.73}, {'connected_gene': 'SETD5', 'score': 71.58}, {'connected_gene': 'CYCSP10', 'score': 41.59}, {'connected_gene': 'THUMPD3-AS1', 'score': 35.01}, {'connected_gene': 'ENSG00000269886', 'score': 28.48}, {'connected_gene': 'RAD18', 'score': 23.12}, {'connected_gene': 'EMC3-AS1', 'score': 19.14}, {'connected_gene': 'ENSG00000269894', 'score': 18.94}, {'connected_gene': 'FANCD2', 'score': 13.51}, {'connected_gene': 'ENSG00000269982', 'score': 13.31}, {'connected_gene': 'PRRT3', 'score': 11.19}, {'connected_gene': 'TADA3', 'score': 6.02}, {'connected_gene': 'RPUSD3', 'score': 5.02}, {'connected_gene': 'TTLL3', 'score': 4.69}, {'connected_gene': 'OGG1', 'score': 0.37}]
chr3 GH03I009777 9777842 9782400 1.01 [{'connected_gene': 'TADA3', 'score': 10.65}, {'connected_gene': 'TTLL3', 'score': 9.49}, {'connected_gene': 'RPUSD3', 'score': 5.7}, {'connected_gene': 'ARPC4', 'score': 0.39}, {'connected_gene': 'CAMK1', 'score': 0.39}, {'connected_gene': 'OGG1', 'score': 0.29}]