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
ENST00000587117 [[41177257, 41177466], [41177976, 41178270]] None
ENST00000587250 [[41177257, 41177466], [41177976, 41178064], [41179199, 41179309], [41180077, 41180212], [41180448, 41181245]] [[41177364, 41177466], [41177976, 41178064], [41179199, 41179309], [41180077, 41180212], [41180448, 41180697]]
ENST00000544533 [[41177257, 41177466], [41177976, 41178064], [41179199, 41179309], [41180077, 41180215], [41180448, 41184057]] [[41177364, 41177466], [41177976, 41178064], [41179199, 41179309], [41180077, 41180215], [41180448, 41180697]]
NM_005440 [[41177257, 41177466], [41177976, 41178064], [41179199, 41179309], [41180077, 41180212], [41180448, 41184058]] [[41177364, 41177466], [41177976, 41178064], [41179199, 41179309], [41180077, 41180212], [41180448, 41180697]]
Promoter
Chrom Start End Description
chr17 41177220 41177282 CAGE_peak_1_at_RND2_5end
chr17 41177283 41177295 CAGE_peak_2_at_RND2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I042925 42925001 42925200 0.2 [{'connected_gene': 'AOC3', 'score': 12.1}, {'connected_gene': 'AOC2', 'score': 12.09}, {'connected_gene': 'CNTD1', 'score': 10.81}, {'connected_gene': 'COA3', 'score': 10.81}, {'connected_gene': 'VAT1', 'score': 10.59}, {'connected_gene': 'RND2', 'score': 10.59}, {'connected_gene': 'BECN1', 'score': 4.77}, {'connected_gene': 'RNY4P2', 'score': 0.44}, {'connected_gene': 'GC17M042933', 'score': 0.44}, {'connected_gene': 'G6PC', 'score': 0.34}]
chr17 GH17I042672 42672991 42684404 2.34 [{'connected_gene': 'CNTNAP1', 'score': 604.71}, {'connected_gene': 'CCR10', 'score': 564.56}, {'connected_gene': 'PLEKHH3', 'score': 561.08}, {'connected_gene': 'ENSG00000267042', 'score': 550.77}, {'connected_gene': 'TUBG2', 'score': 42.87}, {'connected_gene': 'HSD17B1P1', 'score': 29.16}, {'connected_gene': 'ENSG00000267002', 'score': 23.73}, {'connected_gene': 'HMGN1P29', 'score': 23.64}, {'connected_gene': 'HMGN2P15', 'score': 21.54}, {'connected_gene': 'ENSG00000259623', 'score': 21.53}, {'connected_gene': 'DHX8', 'score': 21.5}, {'connected_gene': 'HSD17B1', 'score': 21.18}, {'connected_gene': 'MLX', 'score': 21.09}, {'connected_gene': 'ENSG00000267340', 'score': 20.51}, {'connected_gene': 'NBR2', 'score': 20.27}, {'connected_gene': 'ENSG00000267765', 'score': 19.56}, {'connected_gene': 'LOC108783654', 'score': 18.43}, {'connected_gene': 'NKIRAS2', 'score': 15.46}, {'connected_gene': 'MEOX1', 'score': 14.91}, {'connected_gene': 'ENSG00000267758', 'score': 14.06}, {'connected_gene': 'LINC00910', 'score': 13.17}, {'connected_gene': 'RPL27', 'score': 12.31}, {'connected_gene': 'PSMC3IP', 'score': 11.85}, {'connected_gene': 'TUBG1', 'score': 11.82}, {'connected_gene': 'RETREG3', 'score': 11.82}, {'connected_gene': 'KAT2A', 'score': 11.65}, {'connected_gene': 'CAVIN1', 'score': 11.63}, {'connected_gene': 'GHDC', 'score': 11.46}, {'connected_gene': 'RAMP2', 'score': 11.4}, {'connected_gene': 'RAMP2-AS1', 'score': 11.39}, {'connected_gene': 'VPS25', 'score': 11.37}, {'connected_gene': 'STAT3', 'score': 10.53}, {'connected_gene': 'NAGLU', 'score': 10.26}, {'connected_gene': 'RND2', 'score': 9.97}, {'connected_gene': 'STAT5A', 'score': 9.97}, {'connected_gene': 'FKBP10', 'score': 9.68}, {'connected_gene': 'GC17M042684', 'score': 0.44}]
chr17 GH17I042817 42817963 42818112 0.2 [{'connected_gene': 'VPS25', 'score': 11.86}, {'connected_gene': 'RAMP2', 'score': 11.82}, {'connected_gene': 'RAMP2-AS1', 'score': 11.82}, {'connected_gene': 'HMGN2P15', 'score': 11.81}, {'connected_gene': 'WNK4', 'score': 11.25}, {'connected_gene': 'AOC2', 'score': 11.09}, {'connected_gene': 'AOC3', 'score': 11.07}, {'connected_gene': 'VAT1', 'score': 10.59}, {'connected_gene': 'RND2', 'score': 10.59}, {'connected_gene': 'PIR60292', 'score': 0.44}, {'connected_gene': 'MIR6781', 'score': 0.44}, {'connected_gene': 'BECN1', 'score': 0.37}]
chr17 GH17I042820 42820063 42820232 0.73 [{'connected_gene': 'VPS25', 'score': 11.85}, {'connected_gene': 'RAMP2-AS1', 'score': 11.82}, {'connected_gene': 'RAMP2', 'score': 11.81}, {'connected_gene': 'HMGN2P15', 'score': 11.8}, {'connected_gene': 'CNTD1', 'score': 11.77}, {'connected_gene': 'COA3', 'score': 11.77}, {'connected_gene': 'WNK4', 'score': 11.23}, {'connected_gene': 'AOC2', 'score': 11.12}, {'connected_gene': 'AOC3', 'score': 11.07}, {'connected_gene': 'VAT1', 'score': 10.59}, {'connected_gene': 'RND2', 'score': 10.59}, {'connected_gene': 'MIR6781', 'score': 0.77}, {'connected_gene': 'PIR60292', 'score': 0.44}, {'connected_gene': 'BECN1', 'score': 0.39}]
chr17 GH17I042386 42386291 42390604 2.35 [{'connected_gene': 'STAT3', 'score': 562.22}, {'connected_gene': 'GC17M042386', 'score': 550.77}, {'connected_gene': 'ENSG00000267765', 'score': 28.41}, {'connected_gene': 'ENSG00000267002', 'score': 24.55}, {'connected_gene': 'ENSG00000259623', 'score': 22.85}, {'connected_gene': 'NBR1', 'score': 21.81}, {'connected_gene': 'CCR10', 'score': 21.71}, {'connected_gene': 'KAT2A', 'score': 21.5}, {'connected_gene': 'CNTNAP1', 'score': 19.85}, {'connected_gene': 'KLHL10', 'score': 15.57}, {'connected_gene': 'HMGN1P29', 'score': 14.7}, {'connected_gene': 'ENSG00000267758', 'score': 14.14}, {'connected_gene': 'ENSG00000267340', 'score': 13.59}, {'connected_gene': 'TUBG2', 'score': 13.36}, {'connected_gene': 'PSMC3IP', 'score': 13.11}, {'connected_gene': 'CAVIN1', 'score': 12.49}, {'connected_gene': 'HSD17B1', 'score': 12.45}, {'connected_gene': 'LINC00854', 'score': 11.68}, {'connected_gene': 'GHDC', 'score': 11.5}, {'connected_gene': 'P3H4', 'score': 11.21}, {'connected_gene': 'RNU7-97P', 'score': 11.04}, {'connected_gene': 'ATP6V0A1', 'score': 11.03}, {'connected_gene': 'KLHL11', 'score': 10.85}, {'connected_gene': 'CNTD1', 'score': 10.29}, {'connected_gene': 'NAGLU', 'score': 10.26}, {'connected_gene': 'NBR2', 'score': 10.24}, {'connected_gene': 'PLEKHH3', 'score': 10.19}, {'connected_gene': 'STAT5A', 'score': 10.06}, {'connected_gene': 'LOC108783654', 'score': 10.04}, {'connected_gene': 'RND2', 'score': 9.95}, {'connected_gene': 'AOC4P', 'score': 4.28}]
chr17 GH17I042928 42928162 42929973 1.2 [{'connected_gene': 'G6PC', 'score': 13.31}, {'connected_gene': 'LINC00671', 'score': 13.3}, {'connected_gene': 'RNU6-287P', 'score': 13.28}, {'connected_gene': 'AOC3', 'score': 12.38}, {'connected_gene': 'AOC2', 'score': 12.37}, {'connected_gene': 'CNTD1', 'score': 10.8}, {'connected_gene': 'COA3', 'score': 10.8}, {'connected_gene': 'VPS25', 'score': 10.73}, {'connected_gene': 'RAMP2-AS1', 'score': 10.72}, {'connected_gene': 'HMGN2P15', 'score': 10.72}, {'connected_gene': 'RAMP2', 'score': 10.72}, {'connected_gene': 'VAT1', 'score': 10.6}, {'connected_gene': 'RND2', 'score': 10.6}, {'connected_gene': 'ZNF385C', 'score': 4.61}, {'connected_gene': 'RNY4P2', 'score': 0.77}, {'connected_gene': 'GC17M042933', 'score': 0.77}]
chr17 GH17I043210 43210408 43214787 1.85 [{'connected_gene': 'TMEM106A', 'score': 550.77}, {'connected_gene': 'NBR2', 'score': 71.97}, {'connected_gene': 'VAT1', 'score': 10.94}, {'connected_gene': 'RND2', 'score': 10.94}, {'connected_gene': 'PTGES3L', 'score': 5.41}, {'connected_gene': 'PSMC3IP', 'score': 4.36}, {'connected_gene': 'RNU2-1', 'score': 0.34}, {'connected_gene': 'NBR1', 'score': 0.26}]
chr17 GH17I043024 43024044 43026033 2.07 [{'connected_gene': 'VAT1', 'score': 550.77}, {'connected_gene': 'RND2', 'score': 550.77}, {'connected_gene': 'NBR2', 'score': 88.68}, {'connected_gene': 'HMGN1P29', 'score': 14.8}, {'connected_gene': 'CCR10', 'score': 14.18}, {'connected_gene': 'ENSG00000267758', 'score': 14.04}, {'connected_gene': 'ENSG00000267002', 'score': 13.28}, {'connected_gene': 'LINC00910', 'score': 13.2}, {'connected_gene': 'DHX8', 'score': 12.93}, {'connected_gene': 'HSD17B1P1', 'score': 11.67}, {'connected_gene': 'KAT2A', 'score': 11.64}, {'connected_gene': 'GHDC', 'score': 11.45}, {'connected_gene': 'HSD17B1', 'score': 10.78}, {'connected_gene': 'NAGLU', 'score': 10.2}, {'connected_gene': 'ENSG00000267340', 'score': 10.0}, {'connected_gene': 'LOC108783654', 'score': 9.98}, {'connected_gene': 'STAT5A', 'score': 9.94}, {'connected_gene': 'PTGES3L', 'score': 4.57}, {'connected_gene': 'IFI35', 'score': 0.37}]
chr17 GH17I043026 43026878 43027058 0.63 [{'connected_gene': 'VAT1', 'score': 550.77}, {'connected_gene': 'RND2', 'score': 550.77}, {'connected_gene': 'GC17P043420', 'score': 0.77}]
chr17 GH17I043378 43378550 43379537 0.2 [{'connected_gene': 'NBR2', 'score': 21.66}, {'connected_gene': 'RND2', 'score': 11.17}, {'connected_gene': 'RNU2-4P', 'score': 0.44}, {'connected_gene': 'GC17P043557', 'score': 0.44}, {'connected_gene': 'LINC00910', 'score': 0.39}, {'connected_gene': 'GC17P043558', 'score': 0.34}]
chr17 GH17I043124 43124200 43126961 2.1 [{'connected_gene': 'NBR2', 'score': 642.09}, {'connected_gene': 'PIR61659', 'score': 550.77}, {'connected_gene': 'PIR48082', 'score': 550.77}, {'connected_gene': 'BRCA1', 'score': 550.26}, {'connected_gene': 'DHX8', 'score': 50.85}, {'connected_gene': 'HMGN1P29', 'score': 37.33}, {'connected_gene': 'ENSG00000267758', 'score': 35.92}, {'connected_gene': 'LINC00910', 'score': 25.32}, {'connected_gene': 'PSME3', 'score': 18.85}, {'connected_gene': 'VAT1', 'score': 12.1}, {'connected_gene': 'RND2', 'score': 12.1}, {'connected_gene': 'RETREG3', 'score': 10.57}, {'connected_gene': 'STAT5A', 'score': 10.44}, {'connected_gene': 'VPS25', 'score': 10.18}, {'connected_gene': 'MIR2117HG', 'score': 6.37}, {'connected_gene': 'PSMC3IP', 'score': 4.57}]
chr17 GH17I043314 43314626 43317199 1.47 [{'connected_gene': 'NBR2', 'score': 83.62}, {'connected_gene': 'ASB16-AS1', 'score': 51.21}, {'connected_gene': 'DHX8', 'score': 45.43}, {'connected_gene': 'HMGN1P29', 'score': 35.81}, {'connected_gene': 'LINC00910', 'score': 32.44}, {'connected_gene': 'TMUB2', 'score': 31.59}, {'connected_gene': 'UBTF', 'score': 25.33}, {'connected_gene': 'NAGLU', 'score': 18.63}, {'connected_gene': 'PLEKHH3', 'score': 18.48}, {'connected_gene': 'RPL27', 'score': 18.34}, {'connected_gene': 'PSMC3IP', 'score': 15.98}, {'connected_gene': 'NBR1', 'score': 12.45}, {'connected_gene': 'ENSG00000267765', 'score': 11.49}, {'connected_gene': 'VAT1', 'score': 11.24}, {'connected_gene': 'RND2', 'score': 11.24}, {'connected_gene': 'LOC108783654', 'score': 9.96}, {'connected_gene': 'PSME3', 'score': 9.75}, {'connected_gene': 'PTGES3L', 'score': 5.75}, {'connected_gene': 'LINC00854', 'score': 0.39}, {'connected_gene': 'GC17P043558', 'score': 0.26}]
chr17 GH17I043215 43215463 43219401 0.91 [{'connected_gene': 'NBR2', 'score': 72.01}, {'connected_gene': 'VAT1', 'score': 11.38}, {'connected_gene': 'RND2', 'score': 11.38}, {'connected_gene': 'TMEM106A', 'score': 0.44}, {'connected_gene': 'RNU2-1', 'score': 0.37}, {'connected_gene': 'LINC00854', 'score': 0.17}]
chr17 GH17I043174 43174824 43178276 1.27 [{'connected_gene': 'NBR2', 'score': 80.16}, {'connected_gene': 'VAT1', 'score': 11.03}, {'connected_gene': 'RND2', 'score': 11.03}, {'connected_gene': 'PTGES3L', 'score': 4.69}, {'connected_gene': 'ENSG00000267002', 'score': 0.44}, {'connected_gene': 'NBR1', 'score': 0.44}, {'connected_gene': 'TMEM106A', 'score': 0.28}]
chr17 GH17I043309 43309500 43310555 1.12 [{'connected_gene': 'NBR2', 'score': 76.01}, {'connected_gene': 'VAT1', 'score': 11.24}, {'connected_gene': 'RND2', 'score': 11.24}, {'connected_gene': 'LINC00854', 'score': 0.77}, {'connected_gene': 'GC17P043558', 'score': 0.25}]
chr17 GH17I043322 43322342 43323983 1.54 [{'connected_gene': 'ENSG00000267340', 'score': 256.33}, {'connected_gene': 'UBTF', 'score': 244.63}, {'connected_gene': 'ASB16-AS1', 'score': 222.28}, {'connected_gene': 'ENSG00000267002', 'score': 201.04}, {'connected_gene': 'DHX8', 'score': 168.46}, {'connected_gene': 'HMGN1P29', 'score': 157.52}, {'connected_gene': 'TMUB2', 'score': 138.71}, {'connected_gene': 'NBR2', 'score': 107.3}, {'connected_gene': 'LINC00910', 'score': 86.65}, {'connected_gene': 'PLEKHH3', 'score': 86.41}, {'connected_gene': 'CCR10', 'score': 82.17}, {'connected_gene': 'LOC108783654', 'score': 67.26}, {'connected_gene': 'ENSG00000267765', 'score': 62.78}, {'connected_gene': 'RETREG3', 'score': 58.84}, {'connected_gene': 'HSD17B1', 'score': 58.15}, {'connected_gene': 'CNTNAP1', 'score': 43.2}, {'connected_gene': 'RPL27', 'score': 37.87}, {'connected_gene': 'CNTD1', 'score': 33.66}, {'connected_gene': 'CAVIN1', 'score': 31.49}, {'connected_gene': 'HSD17B1P1', 'score': 29.64}, {'connected_gene': 'C17orf53', 'score': 29.35}, {'connected_gene': 'HMGN2P15', 'score': 29.13}, {'connected_gene': 'NAGLU', 'score': 26.69}, {'connected_gene': 'MPP2', 'score': 22.42}, {'connected_gene': 'NBR1', 'score': 21.89}, {'connected_gene': 'TUBG2', 'score': 19.96}, {'connected_gene': 'ENSG00000260793', 'score': 14.42}, {'connected_gene': 'PSMC3IP', 'score': 13.05}, {'connected_gene': 'RAMP2-AS1', 'score': 12.32}, {'connected_gene': 'LINC00854', 'score': 12.02}, {'connected_gene': 'VAT1', 'score': 11.98}, {'connected_gene': 'LSM12', 'score': 11.78}, {'connected_gene': 'TMEM106A', 'score': 10.93}, {'connected_gene': 'COASY', 'score': 10.47}, {'connected_gene': 'ENSG00000267632', 'score': 10.3}, {'connected_gene': 'RND2', 'score': 9.98}, {'connected_gene': 'AARSD1', 'score': 9.97}, {'connected_gene': 'PSME3', 'score': 9.76}, {'connected_gene': 'GC17P043558', 'score': 0.28}]
chr17 GH17I043079 43079182 43081835 0.65 [{'connected_gene': 'GC17P043421', 'score': 550.77}, {'connected_gene': 'RPL21P4', 'score': 550.77}, {'connected_gene': 'NBR2', 'score': 83.74}, {'connected_gene': 'VAT1', 'score': 11.88}, {'connected_gene': 'RND2', 'score': 11.88}, {'connected_gene': 'RPL27', 'score': 11.42}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 11.4}, {'connected_gene': 'PSMC3IP', 'score': 4.28}, {'connected_gene': 'BRCA1', 'score': 3.11}, {'connected_gene': 'GC17P043556', 'score': 0.44}]
chr17 GH17I042297 42297055 42297967 0.38 [{'connected_gene': 'ENSG00000236194', 'score': 11.64}, {'connected_gene': 'RNU7-97P', 'score': 10.62}, {'connected_gene': 'STAT5A', 'score': 6.31}, {'connected_gene': 'RND2', 'score': 4.39}, {'connected_gene': 'ENSG00000267002', 'score': 3.84}, {'connected_gene': 'PIR49037', 'score': 0.77}]
chr17 GH17I043027 43027064 43028281 0.83 [{'connected_gene': 'GC17P043420', 'score': 550.77}, {'connected_gene': 'NBR2', 'score': 74.24}, {'connected_gene': 'RND2', 'score': 0.77}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.