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
ENST00000250454 [[34985134, 34985792], [34993902, 34994013], [34998563, 34998681], [35002649, 35002745], [35005299, 35005481], [35008760, 35008916]] [[34985515, 34985792], [34993902, 34994013], [34998563, 34998681], [35002649, 35002745], [35005299, 35005481], [35008760, 35008834]]
ENST00000554792 [[34985695, 34985792], [34993902, 34994013], [34998563, 34998681], [35002649, 35002745], [35005299, 35005651]] [[34985695, 34985792], [34993902, 34994013], [34998563, 34998681], [35002649, 35002745], [35005299, 35005492]]
ENST00000555705 [[34998561, 34998681], [35002649, 35002745], [35005299, 35005481], [35008461, 35008904]] [[35008504, 35008834]]
ENST00000555683 [[35005069, 35005481], [35008760, 35008910]] None
NM_018453 [[34985134, 34985792], [34993902, 34994013], [34998563, 34998681], [35002649, 35002745], [35005299, 35005481], [35008760, 35008943]] [[34985515, 34985792], [34993902, 34994013], [34998563, 34998681], [35002649, 35002745], [35005299, 35005481], [35008760, 35008834]]
NM_001318916 [[34985134, 34985792], [34993902, 34994013], [35002649, 35002745], [35005299, 35005481], [35008760, 35008943]] [[34993945, 34994013], [35002649, 35002745], [35005299, 35005481], [35008760, 35008834]]
Promoter
Chrom Start End Description
chr14 35008838 35008849 CAGE_peak_2_at_EAPP_5end
chr14 35008861 35008951 CAGE_peak_1_at_EAPP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I034495 34495743 34499200 1.23 [{'connected_gene': 'RPS19P3', 'score': 10.2}, {'connected_gene': 'SNX6', 'score': 7.69}, {'connected_gene': 'SPTSSA', 'score': 7.49}, {'connected_gene': 'KIAA0391', 'score': 4.46}, {'connected_gene': 'RPL23AP71', 'score': 0.39}, {'connected_gene': 'EAPP', 'score': 0.26}]
chr14 GH14I034826 34826318 34827382 0.31 [{'connected_gene': 'RPS19P3', 'score': 12.19}, {'connected_gene': 'EAPP', 'score': 10.53}, {'connected_gene': 'KIAA0391', 'score': 4.62}, {'connected_gene': 'GC14M034846', 'score': 0.37}, {'connected_gene': 'BAZ1A', 'score': 0.25}, {'connected_gene': 'RPL12P6', 'score': 0.17}]
chr14 GH14I034567 34567991 34570728 0.31 [{'connected_gene': 'RPS19P3', 'score': 561.1}, {'connected_gene': 'EAPP', 'score': 13.68}, {'connected_gene': 'SNX6', 'score': 8.53}]
chr14 GH14I034867 34867063 34868687 0.38 [{'connected_gene': 'RPS19P3', 'score': 12.19}, {'connected_gene': 'EAPP', 'score': 10.52}, {'connected_gene': 'ENSG00000258738', 'score': 7.68}, {'connected_gene': 'PPP2R3C', 'score': 7.59}, {'connected_gene': 'SRP54', 'score': 6.7}, {'connected_gene': 'IGBP1P1', 'score': 6.01}, {'connected_gene': 'PSMA6', 'score': 4.81}, {'connected_gene': 'BAZ1A', 'score': 0.44}, {'connected_gene': 'RNU7-41P', 'score': 0.34}]
chr14 GH14I034372 34372283 34373864 0.83 [{'connected_gene': 'RPS19P3', 'score': 18.74}, {'connected_gene': 'EAPP', 'score': 13.47}, {'connected_gene': 'SPTSSA', 'score': 10.24}, {'connected_gene': 'LOC100421787', 'score': 0.26}, {'connected_gene': 'EGLN3', 'score': 0.17}, {'connected_gene': 'GC14M034245', 'score': 0.13}]
chr14 GH14I034464 34464695 34466000 1.15 [{'connected_gene': 'RPS19P3', 'score': 18.81}, {'connected_gene': 'EAPP', 'score': 13.56}, {'connected_gene': 'EGLN3', 'score': 0.77}, {'connected_gene': 'RPL23AP71', 'score': 0.34}]
chr14 GH14I034080 34080367 34083180 1.35 [{'connected_gene': 'RPS19P3', 'score': 14.91}, {'connected_gene': 'EAPP', 'score': 12.92}, {'connected_gene': 'LOC105370444', 'score': 0.37}, {'connected_gene': 'GC14M034058', 'score': 0.34}, {'connected_gene': 'LOC102724945', 'score': 0.13}, {'connected_gene': 'EGLN3', 'score': 0.05}]
chr14 GH14I034980 34980419 34984294 2.12 [{'connected_gene': 'SRP54', 'score': 576.33}, {'connected_gene': 'SRP54-AS1', 'score': 550.77}, {'connected_gene': 'EAPP', 'score': 36.94}, {'connected_gene': 'FAM177A1', 'score': 19.07}, {'connected_gene': 'PSMA6', 'score': 16.23}, {'connected_gene': 'PPP2R3C', 'score': 16.04}, {'connected_gene': 'RPS19P3', 'score': 10.55}, {'connected_gene': 'BAZ1A', 'score': 10.04}, {'connected_gene': 'NFKBIA', 'score': 9.9}]
chr14 GH14I034502 34502401 34503001 0.38 [{'connected_gene': 'RPL23AP71', 'score': 0.37}, {'connected_gene': 'EAPP', 'score': 0.28}]
chr14 GH14I034491 34491635 34491689 0.52 [{'connected_gene': 'RPL23AP71', 'score': 0.44}, {'connected_gene': 'EAPP', 'score': 0.25}]
chr14 GH14I034628 34628407 34630977 1.97 [{'connected_gene': 'SNX6', 'score': 558.23}, {'connected_gene': 'EAPP', 'score': 10.99}, {'connected_gene': 'RPS19P3', 'score': 0.21}]
chr14 GH14I034578 34578936 34582164 0.31 [{'connected_gene': 'SNX6', 'score': 19.72}, {'connected_gene': 'RNU1-27P', 'score': 12.87}, {'connected_gene': 'EAPP', 'score': 12.84}, {'connected_gene': 'SPTSSA', 'score': 9.25}, {'connected_gene': 'RPS19P3', 'score': 0.39}]
chr14 GH14I034604 34604801 34606000 1.08 [{'connected_gene': 'SNX6', 'score': 571.75}, {'connected_gene': 'RNU1-27P', 'score': 11.26}, {'connected_gene': 'EAPP', 'score': 11.24}, {'connected_gene': 'CFL2', 'score': 10.65}, {'connected_gene': 'RPS19P3', 'score': 0.28}]
chr14 GH14I034677 34677423 34678904 1.25 [{'connected_gene': 'SNX6', 'score': 5.17}, {'connected_gene': 'CFL2', 'score': 4.83}, {'connected_gene': 'EAPP', 'score': 4.63}, {'connected_gene': 'RNU6-1261P', 'score': 0.77}, {'connected_gene': 'RPL23AP8', 'score': 0.37}]
chr14 GH14I035212 35212718 35215608 1.1 [{'connected_gene': 'PSMA6', 'score': 25.07}, {'connected_gene': 'RPS19P3', 'score': 12.04}, {'connected_gene': 'EAPP', 'score': 10.02}, {'connected_gene': 'FAM177A1', 'score': 9.24}, {'connected_gene': 'PPP2R3C', 'score': 5.12}, {'connected_gene': 'MRPL57P8', 'score': 0.44}, {'connected_gene': 'SEPT7P1', 'score': 0.22}, {'connected_gene': 'KIAA0391', 'score': 0.16}, {'connected_gene': 'ENSG00000258790', 'score': 0.16}]
chr14 GH14I035351 35351597 35354485 1.37 [{'connected_gene': 'PSMA6', 'score': 28.55}, {'connected_gene': 'RPS19P3', 'score': 18.69}, {'connected_gene': 'PPP2R3C', 'score': 13.93}, {'connected_gene': 'EAPP', 'score': 13.4}, {'connected_gene': 'ENSG00000258342', 'score': 11.77}, {'connected_gene': 'LOC644584', 'score': 9.8}, {'connected_gene': 'ENSG00000258860', 'score': 0.39}, {'connected_gene': 'GC14P035335', 'score': 0.37}]
chr14 GH14I035291 35290645 35296179 2.27 [{'connected_gene': 'PSMA6', 'score': 561.5}, {'connected_gene': 'GC14P035293', 'score': 550.77}, {'connected_gene': 'GC14P035292', 'score': 550.77}, {'connected_gene': 'PPP2R3C', 'score': 21.72}, {'connected_gene': 'EAPP', 'score': 19.54}, {'connected_gene': 'RPS19P3', 'score': 10.53}, {'connected_gene': 'NFKBIA', 'score': 9.99}, {'connected_gene': 'FAM177A1', 'score': 9.98}, {'connected_gene': 'KIAA0391', 'score': 5.87}, {'connected_gene': 'RALGAPA1', 'score': 4.03}, {'connected_gene': 'GC14P035312', 'score': 0.37}, {'connected_gene': 'ENSG00000258790', 'score': 0.09}]
chr14 GH14I035410 35410740 35411612 0.31 [{'connected_gene': 'PSMA6', 'score': 11.75}, {'connected_gene': 'CFL2', 'score': 10.31}, {'connected_gene': 'EAPP', 'score': 9.85}, {'connected_gene': 'RNU1-27P', 'score': 9.85}, {'connected_gene': 'NFKBIA', 'score': 0.44}, {'connected_gene': 'DNAJC8P1', 'score': 0.37}]
chr14 GH14I035412 35412851 35413800 1.28 [{'connected_gene': 'EAPP', 'score': 20.49}, {'connected_gene': 'RPS19P3', 'score': 14.69}, {'connected_gene': 'CFL2', 'score': 10.31}, {'connected_gene': 'RNU1-27P', 'score': 9.85}, {'connected_gene': 'NFKBIA', 'score': 0.44}, {'connected_gene': 'DNAJC8P1', 'score': 0.37}]
chr14 GH14I034615 34615327 34615591 0.22 [{'connected_gene': 'EAPP', 'score': 1.36}, {'connected_gene': 'SNX6', 'score': 0.39}, {'connected_gene': 'RPS19P3', 'score': 0.25}]
chr14 GH14I035280 35280700 35282302 0.52 [{'connected_gene': 'EAPP', 'score': 13.39}, {'connected_gene': 'PSMA6', 'score': 11.59}, {'connected_gene': 'RPS19P3', 'score': 10.36}, {'connected_gene': 'FAM177A1', 'score': 5.23}, {'connected_gene': 'GC14P035293', 'score': 0.39}, {'connected_gene': 'GC14P035292', 'score': 0.39}, {'connected_gene': 'ENSG00000258790', 'score': 0.1}]
chr14 GH14I035383 35383304 35387174 1.61 [{'connected_gene': 'EAPP', 'score': 19.54}, {'connected_gene': 'NFKBIA', 'score': 15.54}, {'connected_gene': 'FAM177A1', 'score': 14.02}, {'connected_gene': 'PSMA6', 'score': 11.77}, {'connected_gene': 'RPS19P3', 'score': 10.53}, {'connected_gene': 'PPP2R3C', 'score': 10.25}, {'connected_gene': 'RALGAPA1', 'score': 2.5}, {'connected_gene': 'RPLP0P3', 'score': 0.77}, {'connected_gene': 'ENSG00000258860', 'score': 0.34}]
chr14 GH14I034518 34518269 34518302 0.26 [{'connected_gene': 'EAPP', 'score': 14.46}, {'connected_gene': 'RNU1-27P', 'score': 11.86}, {'connected_gene': 'RNU1-28P', 'score': 11.84}, {'connected_gene': 'RPS19P3', 'score': 11.79}, {'connected_gene': 'SPTSSA', 'score': 11.36}, {'connected_gene': 'RPL23AP71', 'score': 0.29}]
chr14 GH14I034051 34051231 34054339 1.3 [{'connected_gene': 'EAPP', 'score': 4.74}, {'connected_gene': 'GC14M034058', 'score': 0.44}, {'connected_gene': 'EGLN3-AS1', 'score': 0.39}, {'connected_gene': 'LOC102724945', 'score': 0.1}, {'connected_gene': 'EGLN3', 'score': 0.05}]
chr14 GH14I035120 35120562 35124322 2.31 [{'connected_gene': 'PPP2R3C', 'score': 582.8}, {'connected_gene': 'KIAA0391', 'score': 561.39}, {'connected_gene': 'ENSG00000258790', 'score': 550.77}, {'connected_gene': 'RPS19P3', 'score': 31.58}, {'connected_gene': 'EAPP', 'score': 28.34}, {'connected_gene': 'NFKBIA', 'score': 9.92}, {'connected_gene': 'FAM177A1', 'score': 8.72}, {'connected_gene': 'BAZ1A', 'score': 6.25}]
chr14 GH14I035049 35049959 35051119 1.07 [{'connected_gene': 'PPP2R3C', 'score': 31.95}, {'connected_gene': 'EAPP', 'score': 9.92}, {'connected_gene': 'RNU1-27P', 'score': 9.92}, {'connected_gene': 'FAM177A1', 'score': 9.8}, {'connected_gene': 'LOC101927178', 'score': 0.29}]
chr14 GH14I035364 35364292 35370675 1.81 [{'connected_gene': 'NFKBIA', 'score': 51.69}, {'connected_gene': 'PSMA6', 'score': 27.0}, {'connected_gene': 'BAZ1A', 'score': 22.21}, {'connected_gene': 'EAPP', 'score': 19.54}, {'connected_gene': 'PPP2R3C', 'score': 16.13}, {'connected_gene': 'RPS19P3', 'score': 10.54}, {'connected_gene': 'FAM177A1', 'score': 10.19}, {'connected_gene': 'RALGAPA1', 'score': 4.55}, {'connected_gene': 'SRP54', 'score': 2.15}, {'connected_gene': 'ENSG00000258860', 'score': 0.77}, {'connected_gene': 'RPLP0P3', 'score': 0.34}]
chr14 GH14I035044 35044937 35048417 2.07 [{'connected_gene': 'FAM177A1', 'score': 579.74}, {'connected_gene': 'PPP2R3C', 'score': 28.34}, {'connected_gene': 'RALGAPA1', 'score': 13.59}, {'connected_gene': 'RNU1-27P', 'score': 9.93}, {'connected_gene': 'EAPP', 'score': 9.92}, {'connected_gene': 'BAZ1A', 'score': 6.91}, {'connected_gene': 'LOC101927178', 'score': 0.29}]
chr14 GH14I034929 34929963 34931984 1.03 [{'connected_gene': 'FAM177A1', 'score': 10.91}, {'connected_gene': 'CFL2', 'score': 10.39}, {'connected_gene': 'RPS19P3', 'score': 10.06}, {'connected_gene': 'PPP2R3C', 'score': 8.06}, {'connected_gene': 'BAZ1A', 'score': 4.64}, {'connected_gene': 'EAPP', 'score': 4.25}, {'connected_gene': 'KIAA0391', 'score': 2.87}, {'connected_gene': 'NFKBIA', 'score': 1.75}, {'connected_gene': 'GC14M034933', 'score': 0.77}, {'connected_gene': 'ENSG00000258493', 'score': 0.39}, {'connected_gene': 'SRP54-AS1', 'score': 0.23}]
chr14 GH14I034553 34553795 34555319 0.85 [{'connected_gene': 'RNU1-28P', 'score': 550.77}, {'connected_gene': 'EAPP', 'score': 13.76}, {'connected_gene': 'RPS19P3', 'score': 10.73}, {'connected_gene': 'SNX6', 'score': 4.95}, {'connected_gene': 'LOC105370449', 'score': 0.77}, {'connected_gene': 'GC14P034547', 'score': 0.44}]
chr14 GH14I035105 35105794 35105827 0.22 [{'connected_gene': 'RNU1-27P', 'score': 9.79}, {'connected_gene': 'EAPP', 'score': 9.79}, {'connected_gene': 'PPP2R3C', 'score': 0.37}, {'connected_gene': 'KIAA0391', 'score': 0.37}, {'connected_gene': 'ENSG00000279434', 'score': 0.37}, {'connected_gene': 'LOC101927178', 'score': 0.34}, {'connected_gene': 'FAM177A1', 'score': 0.21}]
chr14 GH14I034520 34520037 34521432 0.46 [{'connected_gene': 'RNU1-27P', 'score': 12.23}, {'connected_gene': 'RNU1-28P', 'score': 12.09}, {'connected_gene': 'RPS19P3', 'score': 12.06}, {'connected_gene': 'SNX6', 'score': 5.38}, {'connected_gene': 'EAPP', 'score': 0.37}, {'connected_gene': 'RPL23AP71', 'score': 0.29}]
chr14 GH14I034500 34500247 34500786 0.77 [{'connected_gene': 'SPTSSA', 'score': 7.93}, {'connected_gene': 'RPL23AP71', 'score': 0.39}, {'connected_gene': 'EAPP', 'score': 0.28}]
chr14 GH14I034505 34505364 34506671 0.72 [{'connected_gene': 'SPTSSA', 'score': 7.23}, {'connected_gene': 'SNX6', 'score': 4.89}, {'connected_gene': 'RPL23AP71', 'score': 0.34}, {'connected_gene': 'EAPP', 'score': 0.29}]
chr14 GH14I033948 33948335 33952100 2.01 [{'connected_gene': 'EGLN3', 'score': 550.03}, {'connected_gene': 'EAPP', 'score': 19.54}, {'connected_gene': 'RPS19P3', 'score': 10.54}, {'connected_gene': 'LOC105370446', 'score': 0.44}, {'connected_gene': 'GC14P033529', 'score': 0.05}]
chr14 GH14I034877 34877300 34877547 0.26 [{'connected_gene': 'BAZ1A', 'score': 556.05}, {'connected_gene': 'PPP2R3C', 'score': 2.57}, {'connected_gene': 'PSMA6', 'score': 1.34}, {'connected_gene': 'EAPP', 'score': 1.3}, {'connected_gene': 'FAM177A1', 'score': 1.19}, {'connected_gene': 'ENSG00000258493', 'score': 0.26}]
chr14 GH14I034709 34709075 34715545 2.43 [{'connected_gene': 'CFL2', 'score': 558.86}, {'connected_gene': 'EAPP', 'score': 22.12}, {'connected_gene': 'RPS19P3', 'score': 12.65}, {'connected_gene': 'SRP54-AS1', 'score': 9.91}, {'connected_gene': 'PSMA6', 'score': 8.38}, {'connected_gene': 'FAM177A1', 'score': 4.57}, {'connected_gene': 'GC14P034695', 'score': 0.37}]
chr14 GH14I034648 34648042 34652332 1.23 [{'connected_gene': 'CFL2', 'score': 10.77}, {'connected_gene': 'RNU1-27P', 'score': 10.32}, {'connected_gene': 'EAPP', 'score': 10.31}, {'connected_gene': 'SNX6', 'score': 4.74}, {'connected_gene': 'ENSG00000275978', 'score': 0.44}]
chr14 GH14I035420 35420175 35420344 0.38 [{'connected_gene': 'CFL2', 'score': 10.31}, {'connected_gene': 'RNU1-27P', 'score': 9.85}, {'connected_gene': 'EAPP', 'score': 9.84}, {'connected_gene': 'DNAJC8P1', 'score': 0.44}, {'connected_gene': 'NFKBIA', 'score': 0.37}]
chr14 GH14I035415 35414994 35418895 1.49 [{'connected_gene': 'CFL2', 'score': 10.31}, {'connected_gene': 'RNU1-27P', 'score': 9.85}, {'connected_gene': 'EAPP', 'score': 9.84}, {'connected_gene': 'SRP54-AS1', 'score': 4.83}, {'connected_gene': 'INSM2', 'score': 4.22}, {'connected_gene': 'RALGAPA1', 'score': 4.19}, {'connected_gene': 'NFKBIA', 'score': 2.88}, {'connected_gene': 'FAM177A1', 'score': 1.76}, {'connected_gene': 'BRMS1L', 'score': 1.21}, {'connected_gene': 'PPP2R3C', 'score': 1.17}, {'connected_gene': 'DNAJC8P1', 'score': 0.39}]
chr14 GH14I035414 35414600 35414801 0.77 [{'connected_gene': 'CFL2', 'score': 10.31}, {'connected_gene': 'RNU1-27P', 'score': 9.85}, {'connected_gene': 'EAPP', 'score': 9.85}, {'connected_gene': 'SRP54-AS1', 'score': 4.18}, {'connected_gene': 'NFKBIA', 'score': 0.44}, {'connected_gene': 'DNAJC8P1', 'score': 0.37}]
chr14 GH14I034536 34536701 34540767 2.27 [{'connected_gene': 'LOC105370447', 'score': 550.77}, {'connected_gene': 'EAPP', 'score': 550.77}, {'connected_gene': 'SNX6', 'score': 9.11}, {'connected_gene': 'RPL23AP71', 'score': 0.23}]
chr14 GH14I034541 34541127 34542015 0.2 [{'connected_gene': 'LOC105370447', 'score': 550.77}, {'connected_gene': 'EAPP', 'score': 550.77}, {'connected_gene': 'ENSG00000259002', 'score': 0.77}]
chr14 GH14I034872 34872275 34876511 2.3 [{'connected_gene': 'ENSG00000258738', 'score': 558.07}, {'connected_gene': 'BAZ1A', 'score': 550.77}, {'connected_gene': 'RPS19P3', 'score': 12.18}, {'connected_gene': 'RALGAPA1', 'score': 10.85}, {'connected_gene': 'EAPP', 'score': 10.53}, {'connected_gene': 'PPP2R3C', 'score': 7.69}, {'connected_gene': 'FAM177A1', 'score': 7.37}, {'connected_gene': 'SRP54', 'score': 6.53}, {'connected_gene': 'IGBP1P1', 'score': 5.97}, {'connected_gene': 'KIAA0391', 'score': 4.36}]

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