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
ENST00000315266 [[66974124, 66975309], [67147824, 67147903], [67243181, 67243239], [67291191, 67291284], [67346656, 67346751], [67382719, 67382786], [67389382, 67389655], [67431907, 67432042], [67490349, 67490392], [67525365, 67525503], [67555699, 67555792], [67567572, 67567628], [67576856, 67576976], [67578577, 67578636], [67579734, 67579888], [67588972, 67589094], [67610078, 67610166], [67626131, 67626205], [67631878, 67631943], [67635649, 67635753], [67646294, 67646391], [67647520, 67648515]] [[66975245, 66975309], [67147824, 67147903], [67243181, 67243239], [67291191, 67291284], [67346656, 67346751], [67382719, 67382786], [67389382, 67389655], [67431907, 67432042], [67490349, 67490392], [67525365, 67525503], [67555699, 67555792], [67567572, 67567628], [67576856, 67576976], [67578577, 67578636], [67579734, 67579888], [67588972, 67589094], [67610078, 67610166], [67626131, 67626205], [67631878, 67631943], [67635649, 67635753], [67646294, 67646391], [67647520, 67647654]]
ENST00000478722 [[66974124, 66975309], [67147824, 67147903], [67243181, 67243239], [67291191, 67291284], [67346656, 67346751], [67382719, 67382786], [67389382, 67389655], [67390910, 67391009], [67431907, 67432042], [67490349, 67490392], [67525365, 67525503], [67555699, 67555792], [67567572, 67567628], [67576856, 67576976], [67578577, 67578636], [67579734, 67579888], [67588972, 67589094], [67610078, 67610166], [67626131, 67626205], [67631878, 67631943], [67635649, 67635753], [67646294, 67646391], [67647520, 67648520]] [[66975245, 66975309], [67147824, 67147903], [67243181, 67243239], [67291191, 67291284], [67346656, 67346751], [67382719, 67382786], [67389382, 67389655], [67390910, 67391009], [67431907, 67432042], [67490349, 67490392], [67525365, 67525503], [67555699, 67555792], [67567572, 67567628], [67576856, 67576976], [67578577, 67578636], [67579734, 67579888], [67588972, 67589094], [67610078, 67610166], [67626131, 67626205], [67631878, 67631943], [67635649, 67635753], [67646294, 67646391], [67647520, 67647654]]
ENST00000459628 [[66974855, 66975309], [67147824, 67147903], [67243181, 67243239], [67309395, 67309434], [67346656, 67346751], [67382719, 67382786], [67389382, 67389655], [67390910, 67391009], [67431907, 67432042], [67490349, 67490392], [67525365, 67525746]] [[66975245, 66975309], [67147824, 67147903], [67243181, 67243239], [67309395, 67309434], [67346656, 67346751], [67382719, 67382786], [67389382, 67389655], [67390910, 67391009], [67431907, 67432042], [67490349, 67490392], [67525365, 67525556]]
ENST00000543237 [[66975221, 66975309], [67147824, 67147903], [67243181, 67243239], [67291191, 67291284], [67309395, 67309434], [67346656, 67346751], [67382719, 67382786], [67389382, 67389655], [67431907, 67432042], [67452398, 67452455], [67462893, 67462935], [67490349, 67490392], [67525365, 67525503], [67555699, 67555792], [67567572, 67567628], [67576856, 67576976], [67578577, 67578636], [67579734, 67579888], [67588972, 67589094], [67610078, 67610166], [67626131, 67626205], [67631878, 67631943], [67635649, 67635753], [67646294, 67646391], [67647520, 67647740]] [[66975245, 66975309], [67147824, 67147903], [67243181, 67243239], [67291191, 67291284], [67309395, 67309434], [67346656, 67346751], [67382719, 67382786], [67389382, 67389655], [67431907, 67432042], [67452398, 67452455], [67462893, 67462935], [67490349, 67490392], [67525365, 67525503], [67555699, 67555792], [67567572, 67567628], [67576856, 67576976], [67578577, 67578636], [67579734, 67579888], [67588972, 67589094], [67610078, 67610166], [67626131, 67626205], [67631878, 67631943], [67635649, 67635753], [67646294, 67646391], [67647520, 67647654]]
ENST00000555668 [[66975224, 66975309], [67147824, 67147903], [67176074, 67176176], [67243181, 67243239], [67291191, 67291284], [67309395, 67309434], [67346656, 67346750]] [[66975245, 66975309], [67147824, 67147903], [67176074, 67176081]]
ENST00000556633 [[66975224, 66975309], [67147824, 67147903], [67291191, 67291284], [67346656, 67346751], [67382719, 67382786], [67389382, 67389475]] [[66975245, 66975309], [67147824, 67147903], [67291191, 67291201]]
ENST00000305960 [[66975230, 66975309], [67147824, 67147903], [67243181, 67243239], [67346656, 67346751], [67382719, 67382786], [67389382, 67389655], [67431907, 67432042], [67490349, 67490392], [67525365, 67525503], [67555699, 67555792], [67567572, 67567628], [67576856, 67576976], [67578577, 67578636], [67579734, 67579888], [67588972, 67589094], [67610078, 67610166], [67626131, 67626205], [67631878, 67631943], [67635649, 67635753], [67646294, 67646391], [67647520, 67647914]] [[66975245, 66975309], [67147824, 67147903], [67243181, 67243239], [67346656, 67346751], [67382719, 67382786], [67389382, 67389655], [67431907, 67432042], [67490349, 67490392], [67525365, 67525503], [67555699, 67555792], [67567572, 67567628], [67576856, 67576976], [67578577, 67578636], [67579734, 67579888], [67588972, 67589094], [67610078, 67610166], [67626131, 67626205], [67631878, 67631943], [67635649, 67635753], [67646294, 67646391], [67647520, 67647654]]
ENST00000557654 [[66975233, 66975309], [67147824, 67147903], [67176074, 67176176], [67243181, 67243239], [67291191, 67291284], [67346656, 67346751]] [[66975245, 66975309], [67147824, 67147903], [67176074, 67176081]]
ENST00000553936 [[66975233, 66975309], [67017758, 67017899], [67147824, 67147903], [67243181, 67243239], [67291191, 67291284], [67346656, 67346751], [67382719, 67382751]] [[66975245, 66975309], [67017758, 67017814]]
ENST00000556020 [[66975776, 66976120], [67147824, 67147903], [67243181, 67243239], [67291191, 67291272]] None
ENST00000544752 [[67289812, 67290061], [67291191, 67291284], [67346656, 67346751], [67382719, 67382786], [67389382, 67389655], [67390910, 67391009], [67431907, 67432042], [67490349, 67490392], [67525365, 67525503], [67555699, 67555792], [67567572, 67567628], [67576856, 67576976], [67578577, 67578636], [67579734, 67579888], [67588972, 67589094], [67610078, 67610166], [67626131, 67626205], [67631878, 67631943], [67635649, 67635753], [67646294, 67646391], [67647520, 67647810]] None
ENST00000555456 [[67291191, 67291284], [67346656, 67346751], [67382719, 67382786], [67389382, 67389655], [67431907, 67432042], [67452398, 67452455], [67490349, 67490392], [67525365, 67525443]] [[67291191, 67291284], [67346656, 67346751], [67382719, 67382786], [67389382, 67389655], [67431907, 67432042], [67452398, 67452455], [67490349, 67490392], [67525365, 67525443]]
ENST00000555527 [[67578631, 67578636], [67579734, 67579888], [67588972, 67589094], [67610078, 67610166], [67631878, 67631943], [67635649, 67635708]] None
ENST00000555503 [[67579786, 67579888], [67588972, 67589094], [67610078, 67610166], [67626131, 67626205], [67631878, 67631943], [67635649, 67635853]] [[67579786, 67579888], [67588972, 67589094], [67610078, 67610166], [67626131, 67626205], [67631878, 67631943], [67635649, 67635804]]
ENST00000556501 [[67525365, 67525503], [67555699, 67555792], [67567572, 67567628], [67576856, 67577004]] None
ENST00000557678 [[67609717, 67610166], [67626131, 67626205], [67631878, 67631947]] None
ENST00000556240 [[67647565, 67647596], [67648136, 67648509]] [[67647565, 67647596], [67648136, 67648287]]
NM_001024218 [[66974124, 66975309], [67147824, 67147903], [67243181, 67243239], [67291191, 67291284], [67346656, 67346751], [67382719, 67382786], [67389382, 67389655], [67431907, 67432042], [67490349, 67490392], [67525365, 67525503], [67555699, 67555792], [67567572, 67567628], [67576856, 67576976], [67578577, 67578636], [67579734, 67579888], [67588972, 67589094], [67610078, 67610166], [67626131, 67626205], [67631878, 67631943], [67635649, 67635753], [67646294, 67646391], [67647520, 67648525]] [[66975245, 66975309], [67147824, 67147903], [67243181, 67243239], [67291191, 67291284], [67346656, 67346751], [67382719, 67382786], [67389382, 67389655], [67431907, 67432042], [67490349, 67490392], [67525365, 67525503], [67555699, 67555792], [67567572, 67567628], [67576856, 67576976], [67578577, 67578636], [67579734, 67579888], [67588972, 67589094], [67610078, 67610166], [67626131, 67626205], [67631878, 67631943], [67635649, 67635753], [67646294, 67646391], [67647520, 67647654]]
NM_020806 [[66974124, 66975309], [67147824, 67147903], [67243181, 67243239], [67291191, 67291284], [67346656, 67346751], [67382719, 67382786], [67389382, 67389655], [67390910, 67391009], [67431907, 67432042], [67490349, 67490392], [67525365, 67525503], [67555699, 67555792], [67567572, 67567628], [67576856, 67576976], [67578577, 67578636], [67579734, 67579888], [67588972, 67589094], [67610078, 67610166], [67626131, 67626205], [67631878, 67631943], [67635649, 67635753], [67646294, 67646391], [67647520, 67648525]] [[66975245, 66975309], [67147824, 67147903], [67243181, 67243239], [67291191, 67291284], [67346656, 67346751], [67382719, 67382786], [67389382, 67389655], [67390910, 67391009], [67431907, 67432042], [67490349, 67490392], [67525365, 67525503], [67555699, 67555792], [67567572, 67567628], [67576856, 67576976], [67578577, 67578636], [67579734, 67579888], [67588972, 67589094], [67610078, 67610166], [67626131, 67626205], [67631878, 67631943], [67635649, 67635753], [67646294, 67646391], [67647520, 67647654]]
Promoter
Chrom Start End Description
chr14 66974824 66974837 CAGE_peak_3_at_GPHN_5end
chr14 66974845 66974893 CAGE_peak_1_at_GPHN_5end
chr14 66975184 66975195 CAGE_peak_5_at_GPHN_5end
chr14 66975196 66975207 CAGE_peak_4_at_GPHN_5end
chr14 66975213 66975239 CAGE_peak_2_at_GPHN_5end
chr14 67291158 67291169 CAGE_peak_6_at_GPHN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I067426 67426744 67427873 0.89 [{'connected_gene': 'PLEKHH1', 'score': 12.31}, {'connected_gene': 'ATP6V1D', 'score': 8.7}, {'connected_gene': 'GPHN', 'score': 5.83}, {'connected_gene': 'MIR5694', 'score': 0.39}, {'connected_gene': 'PLEK2', 'score': 0.37}]
chr14 GH14I067487 67487281 67489741 1.33 [{'connected_gene': 'PLEKHH1', 'score': 11.62}, {'connected_gene': 'PLEK2', 'score': 10.57}, {'connected_gene': 'GPHN', 'score': 4.62}, {'connected_gene': 'TMEM229B', 'score': 4.13}, {'connected_gene': 'LOC105370542', 'score': 0.37}]
chr14 GH14I067216 67216844 67219486 0.63 [{'connected_gene': 'ATP6V1D', 'score': 23.66}, {'connected_gene': 'MPP5', 'score': 12.18}, {'connected_gene': 'GPHN', 'score': 5.94}, {'connected_gene': 'ENSG00000258988', 'score': 0.37}, {'connected_gene': 'FAM71D', 'score': 0.31}]
chr14 GH14I066444 66444451 66445087 0.2 [{'connected_gene': 'ATP6V1D', 'score': 11.82}, {'connected_gene': 'CCDC196', 'score': 0.29}, {'connected_gene': 'GPHN', 'score': 0.21}, {'connected_gene': 'ENSG00000258561', 'score': 0.21}]
chr14 GH14I067268 67268070 67271638 0.88 [{'connected_gene': 'ATP6V1D', 'score': 25.21}, {'connected_gene': 'PLEK2', 'score': 17.84}, {'connected_gene': 'MPP5', 'score': 12.29}, {'connected_gene': 'EIF2S1', 'score': 7.82}, {'connected_gene': 'GPHN', 'score': 4.51}, {'connected_gene': 'GC14M067260', 'score': 0.44}, {'connected_gene': 'GC14M067261', 'score': 0.44}, {'connected_gene': 'GC14P067341', 'score': 0.19}]
chr14 GH14I067356 67356532 67361905 2.27 [{'connected_gene': 'ATP6V1D', 'score': 575.84}, {'connected_gene': 'EIF2S1', 'score': 550.77}, {'connected_gene': 'ZFYVE26', 'score': 22.31}, {'connected_gene': 'PLEK2', 'score': 18.52}, {'connected_gene': 'ENSG00000258561', 'score': 7.39}, {'connected_gene': 'GPHN', 'score': 5.94}, {'connected_gene': 'ENSG00000199755', 'score': 0.37}]
chr14 GH14I067251 67251600 67251853 0.78 [{'connected_gene': 'ATP6V1D', 'score': 23.44}, {'connected_gene': 'GPHN', 'score': 5.92}, {'connected_gene': 'GC14P067260', 'score': 0.44}, {'connected_gene': 'MPP5', 'score': 0.39}]
chr14 GH14I067252 67252371 67255459 0.76 [{'connected_gene': 'ATP6V1D', 'score': 24.32}, {'connected_gene': 'GPHN', 'score': 5.92}, {'connected_gene': 'ENSG00000258561', 'score': 5.7}, {'connected_gene': 'GC14P067260', 'score': 0.44}, {'connected_gene': 'MPP5', 'score': 0.39}]
chr14 GH14I066483 66483483 66483632 0.67 [{'connected_gene': 'ATP6V1D', 'score': 12.6}, {'connected_gene': 'GPHN', 'score': 12.27}, {'connected_gene': 'ENSG00000258561', 'score': 0.31}, {'connected_gene': 'CCDC196', 'score': 0.19}]
chr14 GH14I067343 67343444 67344897 0.2 [{'connected_gene': 'ATP6V1D', 'score': 25.43}, {'connected_gene': 'GPHN', 'score': 5.94}, {'connected_gene': 'ENSG00000199755', 'score': 0.77}, {'connected_gene': 'EIF2S1', 'score': 0.37}]
chr14 GH14I066650 66650028 66651748 0.67 [{'connected_gene': 'ATP6V1D', 'score': 16.67}, {'connected_gene': 'GPHN', 'score': 5.29}, {'connected_gene': 'ENSG00000258796', 'score': 0.14}, {'connected_gene': 'ENSG00000258561', 'score': 0.11}]
chr14 GH14I066931 66931654 66933488 0.96 [{'connected_gene': 'ATP6V1D', 'score': 11.79}, {'connected_gene': 'GPHN', 'score': 5.96}, {'connected_gene': 'GC14M066915', 'score': 0.39}, {'connected_gene': 'ENSG00000258490', 'score': 0.28}]
chr14 GH14I066949 66949991 66950340 0.26 [{'connected_gene': 'ATP6V1D', 'score': 17.39}, {'connected_gene': 'GPHN', 'score': 1.74}, {'connected_gene': 'ENSG00000258490', 'score': 0.37}, {'connected_gene': 'GC14M066915', 'score': 0.31}]
chr14 GH14I066044 66044546 66044555 0.23 [{'connected_gene': 'YBX1P1', 'score': 11.65}, {'connected_gene': 'GPHN', 'score': 2.29}, {'connected_gene': 'PIR40106', 'score': 0.34}, {'connected_gene': 'LINC02290', 'score': 0.2}]
chr14 GH14I066071 66071033 66079647 0.63 [{'connected_gene': 'YBX1P1', 'score': 10.7}, {'connected_gene': 'GPHN', 'score': 4.63}, {'connected_gene': 'ENSG00000258561', 'score': 4.18}, {'connected_gene': 'LINC02290', 'score': 0.28}, {'connected_gene': 'PIR40106', 'score': 0.23}]
chr14 GH14I066091 66091791 66094670 0.2 [{'connected_gene': 'YBX1P1', 'score': 10.69}, {'connected_gene': 'GPHN', 'score': 4.51}, {'connected_gene': 'LINC02290', 'score': 0.37}, {'connected_gene': 'PIR40106', 'score': 0.19}]
chr14 GH14I067096 67096210 67096559 0.22 [{'connected_gene': 'PLEK2', 'score': 12.17}, {'connected_gene': 'PLEKHH1', 'score': 3.52}, {'connected_gene': 'TMEM229B', 'score': 2.0}, {'connected_gene': 'LOC105370538', 'score': 0.16}, {'connected_gene': 'ENSG00000258490', 'score': 0.13}, {'connected_gene': 'GPHN', 'score': 0.03}]
chr14 GH14I067460 67460788 67466368 0.49 [{'connected_gene': 'PLEK2', 'score': 11.94}, {'connected_gene': 'PLEKHH1', 'score': 11.93}, {'connected_gene': 'GPHN', 'score': 5.01}, {'connected_gene': 'MPP5', 'score': 3.86}, {'connected_gene': 'LOC105370542', 'score': 0.44}, {'connected_gene': 'GC14M067448', 'score': 0.37}, {'connected_gene': 'TMEM229B', 'score': 0.19}]
chr14 GH14I067141 67141056 67142294 0.2 [{'connected_gene': 'PLEK2', 'score': 14.85}, {'connected_gene': 'LOC105370538', 'score': 0.25}, {'connected_gene': 'ENSG00000258490', 'score': 0.09}, {'connected_gene': 'GPHN', 'score': 0.03}]
chr14 GH14I067070 67070692 67070838 0.26 [{'connected_gene': 'PLEK2', 'score': 6.67}, {'connected_gene': 'ENSG00000258490', 'score': 0.15}, {'connected_gene': 'LOC105370538', 'score': 0.13}, {'connected_gene': 'GPHN', 'score': 0.03}]
chr14 GH14I067032 67032239 67032913 0.46 [{'connected_gene': 'PLEK2', 'score': 4.26}, {'connected_gene': 'ENSG00000258490', 'score': 0.21}, {'connected_gene': 'LOC105370538', 'score': 0.1}, {'connected_gene': 'GPHN', 'score': 0.03}]
chr14 GH14I067181 67181573 67181802 0.4 [{'connected_gene': 'LOC105370538', 'score': 0.44}, {'connected_gene': 'ENSG00000258490', 'score': 0.08}, {'connected_gene': 'GPHN', 'score': 0.03}]
chr14 GH14I067342 67342307 67342579 0.28 [{'connected_gene': 'GPHN', 'score': 5.94}, {'connected_gene': 'PLEKHH1', 'score': 4.44}, {'connected_gene': 'MPP5', 'score': 2.29}, {'connected_gene': 'RDH12', 'score': 2.14}, {'connected_gene': 'ENSG00000199755', 'score': 0.77}, {'connected_gene': 'EIF2S1', 'score': 0.37}, {'connected_gene': 'ATP6V1D', 'score': 0.37}]
chr14 GH14I066506 66506773 66510001 2.08 [{'connected_gene': 'GPHN', 'score': 550.77}, {'connected_gene': 'ENSG00000258561', 'score': 550.77}, {'connected_gene': 'ATP6V1D', 'score': 12.7}, {'connected_gene': 'PLEK2', 'score': 11.87}, {'connected_gene': 'EIF2S1', 'score': 10.42}]
chr14 GH14I066395 66395423 66395552 0.46 [{'connected_gene': 'GPHN', 'score': 9.61}, {'connected_gene': 'CCDC196', 'score': 0.37}, {'connected_gene': 'ENSG00000258561', 'score': 0.14}, {'connected_gene': 'GC14P066230', 'score': 0.1}]
chr14 GH14I066389 66389850 66390100 0.22 [{'connected_gene': 'GPHN', 'score': 2.49}, {'connected_gene': 'CCDC196', 'score': 0.34}, {'connected_gene': 'ENSG00000258561', 'score': 0.13}, {'connected_gene': 'GC14P066230', 'score': 0.1}]
chr14 GH14I066503 66503563 66503712 0.57 [{'connected_gene': 'GPHN', 'score': 0.77}, {'connected_gene': 'ENSG00000258561', 'score': 0.44}, {'connected_gene': 'CCDC196', 'score': 0.16}]
chr14 GH14I066495 66495603 66495752 0.67 [{'connected_gene': 'GPHN', 'score': 0.39}, {'connected_gene': 'ENSG00000258561', 'score': 0.39}, {'connected_gene': 'CCDC196', 'score': 0.18}]
chr14 GH14I066624 66624423 66624572 0.63 [{'connected_gene': 'GPHN', 'score': 0.13}, {'connected_gene': 'ENSG00000258561', 'score': 0.13}, {'connected_gene': 'ENSG00000258796', 'score': 0.12}]
chr14 GH14I067011 67011571 67011635 0.27 [{'connected_gene': 'ENSG00000258490', 'score': 0.26}, {'connected_gene': 'LOC105370538', 'score': 0.1}, {'connected_gene': 'GPHN', 'score': 0.03}]
chr14 GH14I066064 66064549 66068808 0.38 [{'connected_gene': 'ENSG00000258561', 'score': 5.63}, {'connected_gene': 'GPHN', 'score': 4.56}, {'connected_gene': 'LINC02290', 'score': 0.26}, {'connected_gene': 'PIR40106', 'score': 0.25}]

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