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
ENST00000313250 [[24422794, 24423125], [24424243, 24424421], [24429110, 24429212], [24434970, 24435041], [24435140, 24435192], [24435491, 24435626], [24436419, 24436475], [24437965, 24438483]] [[24422997, 24423125], [24424243, 24424421], [24429110, 24429212], [24434970, 24435041], [24435140, 24435192], [24435491, 24435626], [24436419, 24436475], [24437965, 24438080]]
ENST00000558263 [[24422942, 24423125], [24424243, 24424421], [24429110, 24429212], [24435140, 24435192], [24436419, 24436475], [24437965, 24438483]] [[24422997, 24423125], [24424243, 24424421], [24429110, 24429212], [24435140, 24435192], [24436419, 24436475], [24437965, 24438016]]
ENST00000543741 [[24422978, 24423125], [24424243, 24424421], [24429110, 24429212], [24436419, 24437332]] [[24422997, 24423125], [24424243, 24424421], [24429110, 24429212], [24436419, 24436479]]
ENST00000382761 [[24422978, 24423125], [24424243, 24424421], [24429110, 24429212], [24435140, 24435192], [24436419, 24436475], [24437965, 24438016]] [[24423051, 24423125], [24424243, 24424421], [24429110, 24429212], [24435140, 24435192], [24436419, 24436475], [24437965, 24438016]]
ENST00000397073 [[24422978, 24423125], [24424243, 24424421], [24434970, 24435041], [24435140, 24435192], [24436419, 24436475], [24437965, 24438080]] [[24423051, 24423125], [24424243, 24424421], [24434970, 24435041], [24435140, 24435192], [24436419, 24436475], [24437965, 24438080]]
ENST00000308178 [[24422978, 24423125], [24424243, 24424421], [24436419, 24436475], [24437965, 24438080]] [[24423051, 24423125], [24424243, 24424421], [24436419, 24436475], [24437965, 24438080]]
ENST00000421831 [[24422978, 24423125], [24424243, 24424421], [24434970, 24435041], [24435140, 24435192], [24435491, 24435626], [24436419, 24436475], [24437965, 24438080]] [[24423051, 24423125], [24424243, 24424421], [24434970, 24435041], [24435140, 24435192], [24435491, 24435626], [24436419, 24436475], [24437965, 24438080]]
ENST00000397075 [[24422987, 24423125], [24424243, 24424421], [24429110, 24429212], [24436419, 24436475], [24437965, 24438218]] [[24422997, 24423125], [24424243, 24424421], [24429110, 24429212], [24436419, 24436475], [24437965, 24438080]]
ENST00000397074 [[24422994, 24423125], [24424243, 24424421], [24436419, 24436475], [24437965, 24438385]] [[24422997, 24423125], [24424243, 24424421], [24436419, 24436475], [24437965, 24438080]]
ENST00000559632 [[24422997, 24423125], [24424243, 24424421], [24434970, 24435041], [24435140, 24435192], [24436419, 24436475], [24437965, 24438483]] [[24422997, 24423125], [24424243, 24424421], [24434970, 24435041], [24435140, 24435192], [24436419, 24436475], [24437965, 24438080]]
ENST00000558581 [[24422997, 24423125], [24424243, 24424421], [24434970, 24435041], [24435140, 24435192], [24435491, 24435626], [24436419, 24436475], [24437965, 24438488]] [[24422997, 24423125], [24424243, 24424421], [24434970, 24435041], [24435140, 24435192], [24435491, 24435626], [24436419, 24436475], [24437965, 24438080]]
ENST00000559975 [[24435566, 24435626], [24436419, 24436475], [24436599, 24436664], [24437965, 24438483]] [[24435566, 24435626], [24436419, 24436475], [24436599, 24436664], [24437965, 24437970]]
NM_001282991 [[24422943, 24423125], [24424243, 24424421], [24436419, 24436475], [24437965, 24438488]] [[24422997, 24423125], [24424243, 24424421], [24436419, 24436475], [24437965, 24438080]]
NM_001282990 [[24422943, 24423125], [24424243, 24424421], [24434970, 24435041], [24435140, 24435192], [24436419, 24436475], [24437965, 24438488]] [[24422997, 24423125], [24424243, 24424421], [24434970, 24435041], [24435140, 24435192], [24436419, 24436475], [24437965, 24438080]]
NM_001282988 [[24422943, 24423125], [24424243, 24424421], [24434970, 24435041], [24435140, 24435192], [24435491, 24435626], [24436419, 24436475], [24437965, 24438488]] [[24422997, 24423125], [24424243, 24424421], [24434970, 24435041], [24435140, 24435192], [24435491, 24435626], [24436419, 24436475], [24437965, 24438080]]
NM_001282989 [[24422943, 24423125], [24424243, 24424421], [24429110, 24429212], [24436419, 24436475], [24437965, 24438488]] [[24422997, 24423125], [24424243, 24424421], [24429110, 24429212], [24436419, 24436475], [24437965, 24438080]]
NM_001282987 [[24422943, 24423125], [24424243, 24424421], [24429110, 24429212], [24435140, 24435192], [24436419, 24436475], [24437965, 24438488]] [[24422997, 24423125], [24424243, 24424421], [24429110, 24429212], [24435140, 24435192], [24436419, 24436475], [24437965, 24438016]]
NM_021004 [[24422943, 24423125], [24424243, 24424421], [24429110, 24429212], [24434970, 24435041], [24435140, 24435192], [24435491, 24435626], [24436419, 24436475], [24437965, 24438488]] [[24422997, 24423125], [24424243, 24424421], [24429110, 24429212], [24434970, 24435041], [24435140, 24435192], [24435491, 24435626], [24436419, 24436475], [24437965, 24438080]]
Promoter
Chrom Start End Description
chr14 24422938 24422986 CAGE_peak_1_at_DHRS4L2_5end,CAGE_peak_1_at_DHRS4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I023631 23631261 23633935 1.14 [{'connected_gene': 'CBLN3', 'score': 11.04}, {'connected_gene': 'PABPN1', 'score': 10.58}, {'connected_gene': 'SDR39U1', 'score': 10.51}, {'connected_gene': 'DHRS4-AS1', 'score': 5.73}, {'connected_gene': 'DHRS4', 'score': 5.64}, {'connected_gene': 'PIR53509', 'score': 0.77}, {'connected_gene': 'DHRS2', 'score': 0.77}]
chr14 GH14I023986 23986552 23987265 0.66 [{'connected_gene': 'DHRS4-AS1', 'score': 550.77}, {'connected_gene': 'PIR45783', 'score': 550.77}, {'connected_gene': 'DHRS4', 'score': 14.72}, {'connected_gene': 'TM9SF1', 'score': 9.55}, {'connected_gene': 'ENSG00000254692', 'score': 9.55}, {'connected_gene': 'CHMP4A', 'score': 9.55}, {'connected_gene': 'DHRS4L2', 'score': 9.32}]
chr14 GH14I023939 23939552 23940324 0.88 [{'connected_gene': 'DHRS4-AS1', 'score': 29.23}, {'connected_gene': 'DHRS4', 'score': 21.25}, {'connected_gene': 'LINC00596', 'score': 0.44}]
chr14 GH14I024091 24090400 24096893 2.51 [{'connected_gene': 'PCK2', 'score': 550.77}, {'connected_gene': 'RNA5SP383', 'score': 31.84}, {'connected_gene': 'NGDN', 'score': 31.53}, {'connected_gene': 'ACIN1', 'score': 27.27}, {'connected_gene': 'NYNRIN', 'score': 22.27}, {'connected_gene': 'NFATC4', 'score': 21.86}, {'connected_gene': 'KHNYN', 'score': 21.33}, {'connected_gene': 'IPO4', 'score': 20.52}, {'connected_gene': 'SLC7A8', 'score': 14.08}, {'connected_gene': 'TINF2', 'score': 12.92}, {'connected_gene': 'CARMIL3', 'score': 11.9}, {'connected_gene': 'C14orf119', 'score': 11.57}, {'connected_gene': 'NRL', 'score': 11.43}, {'connected_gene': 'DCAF11', 'score': 11.43}, {'connected_gene': 'SDR39U1', 'score': 11.24}, {'connected_gene': 'ENSG00000259321', 'score': 10.98}, {'connected_gene': 'TM9SF1', 'score': 10.67}, {'connected_gene': 'IRF9', 'score': 10.38}, {'connected_gene': 'RNF31', 'score': 10.16}, {'connected_gene': 'EMC9', 'score': 10.11}, {'connected_gene': 'LOC102724814', 'score': 10.05}, {'connected_gene': 'EFS', 'score': 9.91}, {'connected_gene': 'TSSK4', 'score': 9.89}, {'connected_gene': 'NOP9', 'score': 9.77}, {'connected_gene': 'DHRS4', 'score': 5.72}, {'connected_gene': 'CPNE6', 'score': 0.34}]
chr14 GH14I023966 23966201 23967400 0.38 [{'connected_gene': 'DHRS4L2', 'score': 21.12}, {'connected_gene': 'DHRS4', 'score': 0.39}, {'connected_gene': 'DHRS4-AS1', 'score': 0.34}]
chr14 GH14I024032 24032828 24033841 1.11 [{'connected_gene': 'DHRS4L2', 'score': 13.43}, {'connected_gene': 'DHRS4', 'score': 10.98}, {'connected_gene': 'PCK2', 'score': 10.93}, {'connected_gene': 'NRL', 'score': 10.9}, {'connected_gene': 'PIR58946', 'score': 0.77}, {'connected_gene': 'DHRS4L1', 'score': 0.31}]
chr14 GH14I023981 23981745 23982750 0.81 [{'connected_gene': 'DHRS4L2', 'score': 11.75}, {'connected_gene': 'TM9SF1', 'score': 9.55}, {'connected_gene': 'ENSG00000254692', 'score': 9.54}, {'connected_gene': 'CHMP4A', 'score': 9.54}, {'connected_gene': 'DHRS4', 'score': 6.98}, {'connected_gene': 'DHRS4-AS1', 'score': 0.44}, {'connected_gene': 'PIR45783', 'score': 0.44}]
chr14 GH14I023548 23547460 23549800 1.15 [{'connected_gene': 'NGDN', 'score': 12.99}, {'connected_gene': 'EFS', 'score': 12.43}, {'connected_gene': 'CDH24', 'score': 11.05}, {'connected_gene': 'AP1G2', 'score': 10.62}, {'connected_gene': 'NYNRIN', 'score': 10.01}, {'connected_gene': 'NFATC4', 'score': 10.0}, {'connected_gene': 'DHRS4', 'score': 5.02}, {'connected_gene': 'LOC102724814', 'score': 4.94}, {'connected_gene': 'DHRS4-AS1', 'score': 4.7}, {'connected_gene': 'ZFHX2', 'score': 0.44}, {'connected_gene': 'ENSG00000273618', 'score': 0.37}, {'connected_gene': 'THTPA', 'score': 0.28}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.28}]
chr14 GH14I023145 23145149 23147953 1.63 [{'connected_gene': 'ACIN1', 'score': 34.05}, {'connected_gene': 'C14orf93', 'score': 25.15}, {'connected_gene': 'ENSG00000259321', 'score': 22.37}, {'connected_gene': 'RBM23', 'score': 16.08}, {'connected_gene': 'LOC102724814', 'score': 15.92}, {'connected_gene': 'NGDN', 'score': 12.81}, {'connected_gene': 'RNF212B', 'score': 11.64}, {'connected_gene': 'SLC7A8', 'score': 11.64}, {'connected_gene': 'HAUS4', 'score': 11.64}, {'connected_gene': 'CEBPE', 'score': 11.53}, {'connected_gene': 'PRMT5', 'score': 10.38}, {'connected_gene': 'AP1G2', 'score': 10.33}, {'connected_gene': 'SLC22A17', 'score': 9.93}, {'connected_gene': 'DHRS4', 'score': 6.0}, {'connected_gene': 'RNU6-1138P', 'score': 0.44}]
chr14 GH14I024843 24843045 24844878 1.05 [{'connected_gene': 'CMA1', 'score': 18.24}, {'connected_gene': 'STXBP6', 'score': 16.03}, {'connected_gene': 'CTSG', 'score': 8.47}, {'connected_gene': 'DHRS4', 'score': 4.36}, {'connected_gene': 'PIR50915', 'score': 0.14}]
chr14 GH14I023944 23944392 23944541 0.56 [{'connected_gene': 'DHRS4', 'score': 31.69}, {'connected_gene': 'ZFHX2', 'score': 9.51}, {'connected_gene': 'ZFHX2-AS1', 'score': 9.5}, {'connected_gene': 'LINC00596', 'score': 0.44}, {'connected_gene': 'DHRS4-AS1', 'score': 0.26}]
chr14 GH14I023951 23951812 23952061 0.75 [{'connected_gene': 'DHRS4', 'score': 581.22}, {'connected_gene': 'DHRS4-AS1', 'score': 32.84}, {'connected_gene': 'KHNYN', 'score': 21.85}, {'connected_gene': 'ACIN1', 'score': 19.29}, {'connected_gene': 'RNA5SP383', 'score': 15.87}, {'connected_gene': 'TM9SF1', 'score': 14.4}, {'connected_gene': 'RNF31', 'score': 14.08}, {'connected_gene': 'TINF2', 'score': 13.21}, {'connected_gene': 'LOC102724814', 'score': 12.97}, {'connected_gene': 'CIDEB', 'score': 12.91}, {'connected_gene': 'HAUS4', 'score': 11.82}, {'connected_gene': 'C14orf93', 'score': 11.72}, {'connected_gene': 'NGDN', 'score': 11.08}, {'connected_gene': 'ENSG00000259321', 'score': 10.15}, {'connected_gene': 'ZFHX2', 'score': 9.68}, {'connected_gene': 'ZFHX2-AS1', 'score': 9.67}, {'connected_gene': 'LINC00596', 'score': 0.37}]
chr14 GH14I024851 24851543 24853393 0.82 [{'connected_gene': 'DHRS4', 'score': 4.39}, {'connected_gene': 'PIR50915', 'score': 0.13}, {'connected_gene': 'STXBP6', 'score': 0.08}]
chr14 GH14I024849 24849248 24849923 0.2 [{'connected_gene': 'DHRS4', 'score': 4.26}, {'connected_gene': 'PIR50915', 'score': 0.13}, {'connected_gene': 'STXBP6', 'score': 0.08}]
chr14 GH14I023953 23953089 23955119 2.06 [{'connected_gene': 'DHRS4', 'score': 582.01}, {'connected_gene': 'ACIN1', 'score': 62.69}, {'connected_gene': 'SDR39U1', 'score': 40.64}, {'connected_gene': 'NGDN', 'score': 39.52}, {'connected_gene': 'RNA5SP383', 'score': 38.71}, {'connected_gene': 'RNF31', 'score': 36.86}, {'connected_gene': 'KHNYN', 'score': 36.84}, {'connected_gene': 'TSSK4', 'score': 36.15}, {'connected_gene': 'DHRS4-AS1', 'score': 31.17}, {'connected_gene': 'PABPN1', 'score': 30.43}, {'connected_gene': 'LOC102724814', 'score': 23.84}, {'connected_gene': 'ENSG00000259321', 'score': 21.99}, {'connected_gene': 'SLC22A17', 'score': 21.61}, {'connected_gene': 'IPO4', 'score': 18.34}, {'connected_gene': 'NOP9', 'score': 18.14}, {'connected_gene': 'C14orf93', 'score': 16.3}, {'connected_gene': 'NYNRIN', 'score': 13.35}, {'connected_gene': 'JPH4', 'score': 12.74}, {'connected_gene': 'TM9SF1', 'score': 12.57}, {'connected_gene': 'SLC7A8', 'score': 11.84}, {'connected_gene': 'CIDEB', 'score': 11.75}, {'connected_gene': 'TINF2', 'score': 11.6}, {'connected_gene': 'HAUS4', 'score': 11.58}, {'connected_gene': 'MDP1', 'score': 11.15}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.83}, {'connected_gene': 'BCL2L2', 'score': 9.99}, {'connected_gene': 'NFATC4', 'score': 9.98}, {'connected_gene': 'HOMEZ', 'score': 9.86}, {'connected_gene': 'DHRS4L2', 'score': 0.37}]
chr14 GH14I024194 24194150 24197603 2.09 [{'connected_gene': 'TM9SF1', 'score': 566.24}, {'connected_gene': 'PIR45873', 'score': 550.77}, {'connected_gene': 'RNF31', 'score': 32.57}, {'connected_gene': 'TINF2', 'score': 25.35}, {'connected_gene': 'MDP1', 'score': 22.41}, {'connected_gene': 'SLC22A17', 'score': 21.61}, {'connected_gene': 'PSME2', 'score': 20.64}, {'connected_gene': 'KHNYN', 'score': 17.19}, {'connected_gene': 'RNA5SP383', 'score': 14.59}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'LOC102724814', 'score': 12.4}, {'connected_gene': 'CIDEB', 'score': 12.29}, {'connected_gene': 'SDR39U1', 'score': 11.85}, {'connected_gene': 'REC8', 'score': 11.71}, {'connected_gene': 'NEDD8-MDP1', 'score': 11.47}, {'connected_gene': 'NEDD8', 'score': 11.47}, {'connected_gene': 'PABPN1', 'score': 10.8}, {'connected_gene': 'IPO4', 'score': 10.57}, {'connected_gene': 'ENSG00000259321', 'score': 10.47}, {'connected_gene': 'TGM1', 'score': 10.3}, {'connected_gene': 'NFATC4', 'score': 10.14}, {'connected_gene': 'BCL2L2', 'score': 9.99}, {'connected_gene': 'EFS', 'score': 9.91}, {'connected_gene': 'TSSK4', 'score': 5.62}, {'connected_gene': 'DHRS4', 'score': 4.29}, {'connected_gene': 'ENSG00000276698', 'score': 0.77}, {'connected_gene': 'ENSG00000254692', 'score': 0.37}]
chr14 GH14I023984 23984903 23986001 1.06 [{'connected_gene': 'TM9SF1', 'score': 9.55}, {'connected_gene': 'ENSG00000254692', 'score': 9.55}, {'connected_gene': 'CHMP4A', 'score': 9.55}, {'connected_gene': 'DHRS4', 'score': 4.71}, {'connected_gene': 'DHRS4L2', 'score': 1.63}, {'connected_gene': 'DHRS4-AS1', 'score': 0.77}, {'connected_gene': 'PIR45783', 'score': 0.77}]
chr14 GH14I023936 23936452 23936641 0.73 [{'connected_gene': 'LINC00596', 'score': 550.77}, {'connected_gene': 'DHRS4', 'score': 20.72}]
chr14 GH14I023663 23663067 23664861 0.71 [{'connected_gene': 'DHRS2', 'score': 11.2}, {'connected_gene': 'NFATC4', 'score': 6.69}, {'connected_gene': 'DHRS4', 'score': 5.01}, {'connected_gene': 'NGDN', 'score': 2.13}, {'connected_gene': 'LOC105370407', 'score': 0.77}, {'connected_gene': 'LOC105370408', 'score': 0.31}]
chr14 GH14I023207 23206932 23208374 0.46 [{'connected_gene': 'RNF212B', 'score': 12.39}, {'connected_gene': 'SLC7A8', 'score': 12.39}, {'connected_gene': 'CEBPE', 'score': 11.08}, {'connected_gene': 'MIR208B', 'score': 10.13}, {'connected_gene': 'SLC22A17', 'score': 10.1}, {'connected_gene': 'ACIN1', 'score': 10.05}, {'connected_gene': 'MYH6', 'score': 9.79}, {'connected_gene': 'BCL2L2', 'score': 9.54}, {'connected_gene': 'HOMEZ', 'score': 9.54}, {'connected_gene': 'PPP1R3E', 'score': 9.54}, {'connected_gene': 'DHRS4', 'score': 4.91}, {'connected_gene': 'DHRS4L2', 'score': 4.85}, {'connected_gene': 'LOC105370406', 'score': 0.44}]
chr14 GH14I024035 24035732 24037461 1.53 [{'connected_gene': 'PIR58946', 'score': 550.77}, {'connected_gene': 'ACIN1', 'score': 21.66}, {'connected_gene': 'DHRS4L1', 'score': 19.2}, {'connected_gene': 'RNA5SP383', 'score': 15.87}, {'connected_gene': 'KHNYN', 'score': 15.64}, {'connected_gene': 'TM9SF1', 'score': 14.71}, {'connected_gene': 'C14orf119', 'score': 13.49}, {'connected_gene': 'LOC102724814', 'score': 12.71}, {'connected_gene': 'DHRS4L2', 'score': 12.67}, {'connected_gene': 'RNF31', 'score': 12.58}, {'connected_gene': 'TINF2', 'score': 12.3}, {'connected_gene': 'PABPN1', 'score': 11.78}, {'connected_gene': 'DHRS4', 'score': 11.75}, {'connected_gene': 'PCK2', 'score': 11.3}, {'connected_gene': 'NRL', 'score': 11.26}, {'connected_gene': 'HOMEZ', 'score': 9.85}, {'connected_gene': 'CIDEB', 'score': 9.77}, {'connected_gene': 'CDH24', 'score': 9.69}, {'connected_gene': 'DHRS4-AS1', 'score': 4.54}]

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