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
ENST00000542434 [[45869660, 45869877], [45877930, 45878129], [45891302, 45891384], [45907638, 45907761], [45919488, 45919595], [45920407, 45920580], [45924065, 45924212], [45935877, 45936081], [45936791, 45936878], [45938485, 45938664], [45938863, 45938985], [45939175, 45939276], [45940955, 45941392]] [[45869727, 45869877], [45877930, 45878129], [45891302, 45891384], [45907638, 45907761], [45919488, 45919595], [45920407, 45920580], [45924065, 45924212], [45935877, 45936081], [45936791, 45936878], [45938485, 45938664], [45938863, 45938985], [45939175, 45939276], [45940955, 45941135]]
ENST00000374391 [[45869674, 45869877], [45877930, 45878129], [45891302, 45891384], [45907638, 45907761], [45919488, 45919595], [45920407, 45920580], [45924065, 45924212], [45935877, 45936081], [45936791, 45936878], [45938485, 45938664], [45938863, 45938985], [45939175, 45939276], [45939563, 45939734], [45940955, 45941561]] [[45869727, 45869877], [45877930, 45878129], [45891302, 45891384], [45907638, 45907761], [45919488, 45919595], [45920407, 45920580], [45924065, 45924212], [45935877, 45936081], [45936791, 45936878], [45938485, 45938664], [45938863, 45938985], [45939175, 45939276], [45939563, 45939734], [45940955, 45941135]]
ENST00000483623 [[45919531, 45919595], [45920407, 45920580], [45923808, 45923934]] None
ENST00000475300 [[45935877, 45936081], [45936791, 45937033]] None
ENST00000493336 [[45938060, 45938664], [45938863, 45938895]] None
ENST00000481117 [[45938689, 45938985], [45939175, 45939276], [45939563, 45939680]] None
ENST00000498461 [[45938868, 45938985], [45939175, 45939662]] None
NM_001256153 [[45869613, 45869877], [45877930, 45878129], [45891302, 45891384], [45907638, 45907761], [45919488, 45919595], [45920407, 45920580], [45924065, 45924212], [45935877, 45936081], [45936791, 45936878], [45938581, 45938664], [45938863, 45938985], [45939175, 45939276], [45939563, 45939734], [45940955, 45941567]] [[45869727, 45869877], [45877930, 45878129], [45891302, 45891384], [45907638, 45907761], [45919488, 45919595], [45920407, 45920580], [45924065, 45924212], [45935877, 45936081], [45936791, 45936878], [45938581, 45938664], [45938863, 45938985], [45939175, 45939276], [45939563, 45939734], [45940955, 45941135]]
NM_001320861 [[45869613, 45869877], [45877930, 45878129], [45891302, 45891384], [45907638, 45907761], [45919488, 45919595], [45920407, 45920580], [45924065, 45924212], [45935877, 45936081], [45936791, 45936878], [45938572, 45938664], [45938863, 45938985], [45939175, 45939276], [45939563, 45939734], [45940955, 45941567]] [[45869727, 45869877], [45877930, 45878129], [45891302, 45891384], [45907638, 45907761], [45919488, 45919595], [45920407, 45920580], [45924065, 45924212], [45935877, 45936081], [45936791, 45936878], [45938572, 45938664], [45938863, 45938985], [45939175, 45939276], [45939563, 45939734], [45940955, 45941135]]
NM_001256154 [[45869613, 45869877], [45877930, 45878129], [45891302, 45891384], [45907638, 45907761], [45919488, 45919595], [45920407, 45920580], [45924065, 45924212], [45935877, 45936081], [45936791, 45936878], [45938485, 45938664], [45938863, 45938985], [45939175, 45939276], [45940955, 45941567]] [[45869727, 45869877], [45877930, 45878129], [45891302, 45891384], [45907638, 45907761], [45919488, 45919595], [45920407, 45920580], [45924065, 45924212], [45935877, 45936081], [45936791, 45936878], [45938485, 45938664], [45938863, 45938985], [45939175, 45939276], [45940955, 45941135]]
NM_000698 [[45869613, 45869877], [45877930, 45878129], [45891302, 45891384], [45907638, 45907761], [45919488, 45919595], [45920407, 45920580], [45924065, 45924212], [45935877, 45936081], [45936791, 45936878], [45938485, 45938664], [45938863, 45938985], [45939175, 45939276], [45939563, 45939734], [45940955, 45941567]] [[45869727, 45869877], [45877930, 45878129], [45891302, 45891384], [45907638, 45907761], [45919488, 45919595], [45920407, 45920580], [45924065, 45924212], [45935877, 45936081], [45936791, 45936878], [45938485, 45938664], [45938863, 45938985], [45939175, 45939276], [45939563, 45939734], [45940955, 45941135]]
NM_001320862 [[45869613, 45869915], [45877930, 45878129], [45891302, 45891384], [45907638, 45907761], [45919488, 45919595], [45920407, 45920580], [45924065, 45924212], [45935877, 45936081], [45936791, 45936878], [45938485, 45938664], [45938863, 45938985], [45939175, 45939276], [45939563, 45939734], [45940955, 45941567]] [[45907642, 45907761], [45919488, 45919595], [45920407, 45920580], [45924065, 45924212], [45935877, 45936081], [45936791, 45936878], [45938485, 45938664], [45938863, 45938985], [45939175, 45939276], [45939563, 45939734], [45940955, 45941135]]
Promoter
Chrom Start End Description
chr10 45869615 45869647 CAGE_peak_2_at_ALOX5_5end
chr10 45869652 45869680 CAGE_peak_1_at_ALOX5_5end
chr10 45869683 45869708 CAGE_peak_3_at_ALOX5_5end
chr10 45869811 45869822 CAGE_peak_4_at_ALOX5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I045425 45425153 45425302 0.51 [{'connected_gene': 'ZFAND4', 'score': 15.61}, {'connected_gene': 'LOC102724323', 'score': 12.53}, {'connected_gene': 'GC10M045366', 'score': 0.44}, {'connected_gene': 'GC10P045436', 'score': 0.39}, {'connected_gene': 'ALOX5', 'score': 0.23}]
chr10 GH10I044957 44957669 44969963 2.52 [{'connected_gene': 'RASSF4', 'score': 558.78}, {'connected_gene': 'WASHC2C', 'score': 36.95}, {'connected_gene': 'TMEM72-AS1', 'score': 24.31}, {'connected_gene': 'ZNF22', 'score': 16.47}, {'connected_gene': 'AGAP4', 'score': 15.32}, {'connected_gene': 'C10orf25', 'score': 13.01}, {'connected_gene': 'ENSG00000223462', 'score': 12.97}, {'connected_gene': 'ENSG00000234504', 'score': 11.77}, {'connected_gene': 'TMEM72', 'score': 10.31}, {'connected_gene': 'CEP164P1', 'score': 6.66}, {'connected_gene': 'ALOX5', 'score': 2.41}, {'connected_gene': 'OR13A1', 'score': 1.49}, {'connected_gene': 'ENSG00000273363', 'score': 0.77}, {'connected_gene': 'GC10M044957', 'score': 0.77}, {'connected_gene': 'LOC105378281', 'score': 0.44}]
chr10 GH10I044925 44925474 44925879 0.74 [{'connected_gene': 'RASSF4', 'score': 11.04}, {'connected_gene': 'TMEM72-AS1', 'score': 11.04}, {'connected_gene': 'ZNF22', 'score': 10.94}, {'connected_gene': 'C10orf25', 'score': 10.93}, {'connected_gene': 'TMEM72', 'score': 1.78}, {'connected_gene': 'ALOX5', 'score': 1.17}, {'connected_gene': 'ENSG00000234504', 'score': 0.44}, {'connected_gene': 'ENSG00000223462', 'score': 0.39}]
chr10 GH10I044927 44927060 44928020 0.85 [{'connected_gene': 'RASSF4', 'score': 11.55}, {'connected_gene': 'TMEM72-AS1', 'score': 11.55}, {'connected_gene': 'C10orf25', 'score': 10.94}, {'connected_gene': 'ZNF22', 'score': 10.94}, {'connected_gene': 'TMEM72', 'score': 10.0}, {'connected_gene': 'ALOX5', 'score': 1.33}, {'connected_gene': 'ENSG00000234504', 'score': 0.44}, {'connected_gene': 'ENSG00000223462', 'score': 0.44}]
chr10 GH10I045378 45378962 45380922 0.98 [{'connected_gene': 'OR13A1', 'score': 14.24}, {'connected_gene': 'ALOX5', 'score': 13.77}, {'connected_gene': 'WASHC2C', 'score': 9.06}, {'connected_gene': 'GC10M045391', 'score': 0.39}, {'connected_gene': 'GC10M045366', 'score': 0.28}]
chr10 GH10I045377 45377471 45378691 0.66 [{'connected_gene': 'OR13A1', 'score': 12.31}, {'connected_gene': 'ALOX5', 'score': 0.77}, {'connected_gene': 'GC10M045391', 'score': 0.39}, {'connected_gene': 'GC10M045366', 'score': 0.28}]
chr10 GH10I045353 45353906 45354959 0.8 [{'connected_gene': 'OR13A1', 'score': 14.25}, {'connected_gene': 'ALOX5', 'score': 7.94}]
chr10 GH10I045395 45395424 45396396 0.31 [{'connected_gene': 'OR13A1', 'score': 6.37}, {'connected_gene': 'MARCH8', 'score': 5.93}, {'connected_gene': 'ALOX5', 'score': 5.41}, {'connected_gene': 'ZFAND4', 'score': 5.08}, {'connected_gene': 'AGAP4', 'score': 4.35}, {'connected_gene': 'GC10M045391', 'score': 0.77}, {'connected_gene': 'PIR47812', 'score': 0.39}, {'connected_gene': 'GC10M045366', 'score': 0.34}]
chr10 GH10I044945 44945708 44950936 1.22 [{'connected_gene': 'TMEM72', 'score': 20.24}, {'connected_gene': 'C10orf25', 'score': 10.9}, {'connected_gene': 'ZNF22', 'score': 10.9}, {'connected_gene': 'RASSF4', 'score': 7.14}, {'connected_gene': 'ENSG00000227683', 'score': 5.25}, {'connected_gene': 'TMEM72-AS1', 'score': 4.68}, {'connected_gene': 'RSU1P2', 'score': 4.58}, {'connected_gene': 'ALOX5', 'score': 4.33}, {'connected_gene': 'ENSG00000223462', 'score': 0.39}]
chr10 GH10I045249 45249602 45251200 1.05 [{'connected_gene': 'WASHC2C', 'score': 10.3}, {'connected_gene': 'AGAP4', 'score': 7.35}, {'connected_gene': 'ENSG00000227683', 'score': 6.36}, {'connected_gene': 'ALOX5', 'score': 4.08}, {'connected_gene': 'CUBNP2', 'score': 0.77}, {'connected_gene': 'OR6D1P', 'score': 0.44}]
chr10 GH10I045726 45726571 45728201 2.09 [{'connected_gene': 'WASHC2C', 'score': 587.26}, {'connected_gene': 'ENSG00000228702', 'score': 550.77}, {'connected_gene': 'FAM21FP', 'score': 550.77}, {'connected_gene': 'PARGP1', 'score': 57.63}, {'connected_gene': 'AGAP4', 'score': 26.84}, {'connected_gene': 'LOC105378289', 'score': 19.78}, {'connected_gene': 'ZFAND4', 'score': 19.33}, {'connected_gene': 'ENSG00000273363', 'score': 11.86}, {'connected_gene': 'AGAP10P', 'score': 10.48}, {'connected_gene': 'DEPP1', 'score': 9.69}, {'connected_gene': 'ALOX5', 'score': 4.75}, {'connected_gene': 'PIR32972', 'score': 0.31}]
chr10 GH10I045432 45432118 45432514 0.36 [{'connected_gene': 'ALOX5', 'score': 2.98}, {'connected_gene': 'ZFAND4', 'score': 1.26}, {'connected_gene': 'WASHC2C', 'score': 1.21}, {'connected_gene': 'GC10P045436', 'score': 0.77}, {'connected_gene': 'GC10M045366', 'score': 0.37}]
chr10 GH10I045373 45373062 45377372 2.42 [{'connected_gene': 'ALOX5', 'score': 564.21}, {'connected_gene': 'OR13A1', 'score': 12.76}, {'connected_gene': 'AGAP10P', 'score': 10.57}, {'connected_gene': 'WASHC2C', 'score': 5.26}, {'connected_gene': 'ZFAND4', 'score': 2.67}, {'connected_gene': 'GC10M045391', 'score': 0.37}, {'connected_gene': 'GC10M045366', 'score': 0.26}]
chr10 GH10I045430 45430481 45430558 0.43 [{'connected_gene': 'ALOX5', 'score': 5.48}, {'connected_gene': 'MARCH8', 'score': 2.64}, {'connected_gene': 'WASHC2C', 'score': 1.63}, {'connected_gene': 'ZFAND4', 'score': 1.54}, {'connected_gene': 'GC10P045436', 'score': 0.44}, {'connected_gene': 'GC10M045366', 'score': 0.39}]
chr10 GH10I045418 45418132 45423303 1.47 [{'connected_gene': 'ALOX5', 'score': 24.47}, {'connected_gene': 'AGAP4', 'score': 12.75}, {'connected_gene': 'ZFAND4', 'score': 12.59}, {'connected_gene': 'LOC102724323', 'score': 12.57}, {'connected_gene': 'WASHC2C', 'score': 11.68}, {'connected_gene': 'MARCH8', 'score': 7.2}, {'connected_gene': 'OR13A1', 'score': 6.19}, {'connected_gene': 'GC10M045366', 'score': 0.77}, {'connected_gene': 'GC10P045436', 'score': 0.37}]
chr10 GH10I045383 45383686 45384350 0.51 [{'connected_gene': 'ALOX5', 'score': 0.44}, {'connected_gene': 'GC10M045391', 'score': 0.44}, {'connected_gene': 'GC10M045366', 'score': 0.29}]
chr10 GH10I045058 45058273 45059472 0.66 [{'connected_gene': 'C10orf25', 'score': 28.15}, {'connected_gene': 'ZNF22', 'score': 10.7}, {'connected_gene': 'ALOX5', 'score': 2.85}, {'connected_gene': 'GC10P045056', 'score': 0.77}, {'connected_gene': 'GC10M045074', 'score': 0.39}, {'connected_gene': 'CEP164P1', 'score': 0.37}, {'connected_gene': 'ENSG00000277757', 'score': 0.17}]
chr10 GH10I045514 45513805 45514921 0.58 [{'connected_gene': 'MARCH8', 'score': 22.88}, {'connected_gene': 'ALOX5', 'score': 4.46}, {'connected_gene': 'GC10P045511', 'score': 0.77}]
chr10 GH10I045427 45427801 45428000 0.31 [{'connected_gene': 'LOC102724323', 'score': 13.03}, {'connected_gene': 'GC10P045436', 'score': 0.44}, {'connected_gene': 'GC10M045366', 'score': 0.39}, {'connected_gene': 'ALOX5', 'score': 0.23}]
chr10 GH10I045426 45426253 45426402 0.83 [{'connected_gene': 'LOC102724323', 'score': 12.53}, {'connected_gene': 'MARCH8', 'score': 4.74}, {'connected_gene': 'GC10P045436', 'score': 0.44}, {'connected_gene': 'GC10M045366', 'score': 0.39}, {'connected_gene': 'ALOX5', 'score': 0.23}]
chr10 GH10I045408 45408954 45409263 1.06 [{'connected_gene': 'PIR47812', 'score': 550.77}, {'connected_gene': 'ALOX5', 'score': 16.79}, {'connected_gene': 'LOC102724323', 'score': 12.05}, {'connected_gene': 'WASHC2C', 'score': 2.36}, {'connected_gene': 'GC10M045366', 'score': 0.44}, {'connected_gene': 'GC10M045391', 'score': 0.37}]
chr10 GH10I045409 45407834 45407862 0.73 [{'connected_gene': 'PIR47812', 'score': 550.77}, {'connected_gene': 'ALOX5', 'score': 12.28}, {'connected_gene': 'LOC102724323', 'score': 12.04}, {'connected_gene': 'GC10M045366', 'score': 0.44}, {'connected_gene': 'GC10M045391', 'score': 0.37}]
chr10 GH10I045407 45407713 45407802 0.73 [{'connected_gene': 'PIR47812', 'score': 550.77}, {'connected_gene': 'ALOX5', 'score': 12.28}, {'connected_gene': 'LOC102724323', 'score': 12.04}, {'connected_gene': 'GC10M045366', 'score': 0.44}, {'connected_gene': 'GC10M045391', 'score': 0.37}]
chr10 GH10I045404 45404231 45404402 0.9 [{'connected_gene': 'PIR47812', 'score': 0.44}, {'connected_gene': 'GC10M045366', 'score': 0.39}, {'connected_gene': 'GC10M045391', 'score': 0.39}, {'connected_gene': 'ALOX5', 'score': 0.29}]
chr10 GH10I045405 45404493 45404642 0.84 [{'connected_gene': 'PIR47812', 'score': 0.44}, {'connected_gene': 'GC10M045366', 'score': 0.39}, {'connected_gene': 'GC10M045391', 'score': 0.39}, {'connected_gene': 'ALOX5', 'score': 0.29}]
chr10 GH10I045433 45433585 45434853 0.72 [{'connected_gene': 'GC10P045436', 'score': 0.77}, {'connected_gene': 'GC10M045366', 'score': 0.37}, {'connected_gene': 'ALOX5', 'score': 0.21}]
chr10 GH10I044939 44939024 44939295 0.61 [{'connected_gene': 'ENSG00000223462', 'score': 550.77}, {'connected_gene': 'AGAP4', 'score': 14.33}, {'connected_gene': 'AGAP10P', 'score': 10.26}, {'connected_gene': 'RASSF4', 'score': 6.36}, {'connected_gene': 'ALOX5', 'score': 3.23}, {'connected_gene': 'OR13A1', 'score': 1.64}, {'connected_gene': 'TMEM72-AS1', 'score': 0.34}]
chr10 GH10I045437 45437213 45438008 0.92 [{'connected_gene': 'GC10P045436', 'score': 550.77}, {'connected_gene': 'LOC102724323', 'score': 0.37}, {'connected_gene': 'ALOX5', 'score': 0.21}]
chr10 GH10I045159 45159625 45161546 0.67 [{'connected_gene': 'GC10M045156', 'score': 550.77}, {'connected_gene': 'FAM21FP', 'score': 12.19}, {'connected_gene': 'PARGP1', 'score': 10.3}, {'connected_gene': 'ALOX5', 'score': 2.07}, {'connected_gene': 'MIR3156-1', 'score': 0.77}, {'connected_gene': 'ANKRD30BP3', 'score': 0.44}, {'connected_gene': 'ENSG00000243349', 'score': 0.39}]