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
ENST00000435114 [[27532359, 27532849], [27534766, 27534819], [27535081, 27535114], [27535273, 27535320]] [[27532779, 27532849], [27534766, 27534819], [27535081, 27535114], [27535273, 27535320]]
ENST00000233545 [[27532359, 27532849], [27534766, 27534819], [27535081, 27535114], [27535360, 27535456], [27535546, 27535639], [27535860, 27535976], [27545314, 27545431]] [[27532779, 27532849], [27534766, 27534819], [27535081, 27535114], [27535360, 27535456], [27535546, 27535639], [27535860, 27535976], [27545314, 27545384]]
ENST00000402310 [[27532359, 27532849], [27535081, 27535114], [27535360, 27535456], [27535546, 27535639], [27535860, 27535976], [27545314, 27545389], [27545918, 27545921]] [[27532744, 27532849], [27535081, 27535114], [27535360, 27535456], [27535546, 27535639], [27535860, 27535976], [27545314, 27545384]]
ENST00000380044 [[27532361, 27532849], [27534766, 27534819], [27535081, 27535114], [27535360, 27535456], [27535546, 27535639], [27535860, 27535976], [27545314, 27545389], [27545918, 27545969]] [[27532779, 27532849], [27534766, 27534819], [27535081, 27535114], [27535360, 27535456], [27535546, 27535639], [27535860, 27535976], [27545314, 27545384]]
ENST00000357186 [[27532361, 27532849], [27534766, 27534819], [27535081, 27535114], [27535360, 27535456], [27535546, 27535639], [27547299, 27548547]] [[27532779, 27532849], [27534766, 27534819], [27535081, 27535114], [27535360, 27535456], [27535546, 27535639], [27547299, 27547317]]
ENST00000402722 [[27532397, 27532849], [27535360, 27535456], [27535546, 27535639], [27535860, 27535941], [27545314, 27545389], [27545918, 27545948]] [[27535400, 27535456], [27535546, 27535639], [27535860, 27535941], [27545314, 27545384]]
ENST00000426513 [[27532407, 27532849], [27534766, 27534819], [27535081, 27535114], [27535360, 27535456], [27535546, 27535639], [27535860, 27535941], [27545314, 27545389], [27545918, 27545950]] [[27535400, 27535456], [27535546, 27535639], [27535860, 27535941], [27545314, 27545384]]
ENST00000405983 [[27532513, 27532849], [27534766, 27534819], [27535081, 27535114], [27535360, 27535456], [27535546, 27535639], [27535860, 27536021], [27545314, 27545389], [27545918, 27545930]] [[27532779, 27532849], [27534766, 27534819], [27535081, 27535114], [27535360, 27535456], [27535546, 27535639], [27535860, 27536021], [27545314, 27545384]]
ENST00000405076 [[27532574, 27532849], [27534766, 27534819], [27535081, 27535114], [27535860, 27535976], [27545314, 27545389], [27545918, 27545969]] [[27532779, 27532849], [27534766, 27534819], [27535081, 27535114], [27535860, 27535976], [27545314, 27545384]]
ENST00000430991 [[27532662, 27532849], [27534766, 27534819], [27535081, 27535114], [27535546, 27535639], [27535860, 27535976]] [[27532779, 27532849], [27534766, 27534819], [27535081, 27535114], [27535546, 27535639], [27535860, 27535976]]
ENST00000489478 [[27532717, 27532849], [27534766, 27534819], [27535081, 27535456], [27535546, 27535639], [27535860, 27535976], [27545314, 27545389], [27545918, 27545969]] None
ENST00000415514 [[27532771, 27532849], [27534766, 27534819], [27535081, 27535114], [27535360, 27535456], [27535546, 27535639], [27539944, 27540101], [27545314, 27545389], [27545918, 27545930]] [[27535626, 27535639], [27539944, 27540101], [27545314, 27545384]]
ENST00000403262 [[27534362, 27534545], [27534766, 27534819], [27535081, 27535114], [27535360, 27535456], [27535546, 27535639], [27535860, 27535976], [27545314, 27545389], [27545918, 27545934]] [[27534490, 27534545], [27534766, 27534819], [27535081, 27535114], [27535360, 27535456], [27535546, 27535639], [27535860, 27535976], [27545314, 27545384]]
ENST00000495429 [[27534797, 27535456], [27535546, 27535639], [27535860, 27535976], [27545314, 27545389], [27545918, 27545939]] None
ENST00000428910 [[27534802, 27534819], [27535081, 27535114], [27535360, 27535456], [27535546, 27535639], [27535860, 27535976], [27539025, 27539053], [27539944, 27540040], [27545314, 27545389], [27545918, 27545939]] [[27534802, 27534819], [27535081, 27535114], [27535360, 27535456], [27535546, 27535639], [27535860, 27535968]]
ENST00000475085 [[27535014, 27535114], [27535360, 27535456], [27535546, 27535853]] None
ENST00000497981 [[27535081, 27535456], [27535546, 27535639], [27535860, 27535941], [27545314, 27545389], [27545918, 27545964]] None
ENST00000492879 [[27535115, 27535456], [27535546, 27535639], [27535860, 27535976], [27539944, 27540101], [27545314, 27545389], [27545918, 27545929]] None
ENST00000481575 [[27535167, 27535456], [27535546, 27535639], [27535860, 27536023]] None
ENST00000399052 [[27538582, 27539053], [27539944, 27540101], [27545314, 27545389], [27545918, 27545964]] [[27538947, 27539053], [27539944, 27540101], [27545314, 27545384]]
ENST00000486898 [[27539657, 27540101], [27545314, 27545389], [27545918, 27545964]] None
ENST00000494436 [[27544825, 27545389], [27545918, 27545944]] None
NM_002437 [[27532359, 27532849], [27534766, 27534819], [27535081, 27535114], [27535360, 27535456], [27535546, 27535639], [27535860, 27535976], [27545314, 27545389], [27545918, 27545969]] [[27532779, 27532849], [27534766, 27534819], [27535081, 27535114], [27535360, 27535456], [27535546, 27535639], [27535860, 27535976], [27545314, 27545384]]
Promoter
Chrom Start End Description
chr2 27545434 27545444 CAGE_peak_8_at_MPV17_5end
chr2 27545446 27545457 CAGE_peak_5_at_MPV17_5end
chr2 27545939 27545981 CAGE_peak_1_at_MPV17_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I027662 27662437 27664854 2.14 [{'connected_gene': 'SUPT7L', 'score': 626.29}, {'connected_gene': 'SLC4A1AP', 'score': 562.73}, {'connected_gene': 'IFT172', 'score': 86.94}, {'connected_gene': 'GTF3C2', 'score': 83.29}, {'connected_gene': 'CAD', 'score': 69.97}, {'connected_gene': 'ZNF512', 'score': 64.61}, {'connected_gene': 'GPN1', 'score': 57.67}, {'connected_gene': 'NRBP1', 'score': 51.44}, {'connected_gene': 'EIF2B4', 'score': 50.65}, {'connected_gene': 'SNX17', 'score': 43.13}, {'connected_gene': 'LOC105374363', 'score': 41.54}, {'connected_gene': 'GTF3C2-AS1', 'score': 33.54}, {'connected_gene': 'ENSG00000272148', 'score': 33.32}, {'connected_gene': 'TMEM214', 'score': 31.87}, {'connected_gene': 'CCDC121', 'score': 21.4}, {'connected_gene': 'ZNF513', 'score': 20.79}, {'connected_gene': 'ATRAID', 'score': 20.76}, {'connected_gene': 'AGBL5-IT1', 'score': 20.67}, {'connected_gene': 'PPM1G', 'score': 20.5}, {'connected_gene': 'OST4', 'score': 12.66}, {'connected_gene': 'ENSG00000206731', 'score': 11.53}, {'connected_gene': 'ENSG00000272056', 'score': 10.72}, {'connected_gene': 'FOSL2', 'score': 10.65}, {'connected_gene': 'MPV17', 'score': 10.34}, {'connected_gene': 'FLJ31356', 'score': 10.22}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2 GH02I027265 27265093 27265262 0.98 [{'connected_gene': 'SLC5A6', 'score': 10.8}, {'connected_gene': 'ATRAID', 'score': 10.8}, {'connected_gene': 'UCN', 'score': 10.52}, {'connected_gene': 'MPV17', 'score': 10.47}, {'connected_gene': 'SLC30A3', 'score': 0.39}, {'connected_gene': 'DNAJC5G', 'score': 0.39}, {'connected_gene': 'CAD', 'score': 0.25}]
chr2 GH02I027263 27263000 27263201 1.54 [{'connected_gene': 'SLC30A3', 'score': 550.39}, {'connected_gene': 'UCN', 'score': 11.77}, {'connected_gene': 'MPV17', 'score': 11.73}, {'connected_gene': 'CAD', 'score': 11.05}, {'connected_gene': 'ATRAID', 'score': 11.03}, {'connected_gene': 'SLC5A6', 'score': 11.03}, {'connected_gene': 'GTF3C2-AS1', 'score': 10.6}, {'connected_gene': 'TCF23', 'score': 10.57}, {'connected_gene': 'GTF3C2', 'score': 10.56}, {'connected_gene': 'PRR30', 'score': 10.56}, {'connected_gene': 'PREB', 'score': 10.31}, {'connected_gene': 'DNAJC5G', 'score': 0.39}]
chr2 GH02I027264 27263207 27263266 0.99 [{'connected_gene': 'SLC30A3', 'score': 550.39}, {'connected_gene': 'UCN', 'score': 11.77}, {'connected_gene': 'MPV17', 'score': 11.73}, {'connected_gene': 'CAD', 'score': 11.05}, {'connected_gene': 'ATRAID', 'score': 11.03}, {'connected_gene': 'SLC5A6', 'score': 11.03}, {'connected_gene': 'GTF3C2-AS1', 'score': 10.6}, {'connected_gene': 'TCF23', 'score': 10.57}, {'connected_gene': 'GTF3C2', 'score': 10.56}, {'connected_gene': 'PRR30', 'score': 10.56}, {'connected_gene': 'PREB', 'score': 10.31}, {'connected_gene': 'CENPA', 'score': 5.39}, {'connected_gene': 'DNAJC5G', 'score': 0.39}]
chr2 GH02I027169 27169799 27172737 1.18 [{'connected_gene': 'ATRAID', 'score': 22.62}, {'connected_gene': 'GTF3C2', 'score': 16.38}, {'connected_gene': 'TCF23', 'score': 12.35}, {'connected_gene': 'PRR30', 'score': 12.31}, {'connected_gene': 'PREB', 'score': 11.7}, {'connected_gene': 'SLC5A6', 'score': 11.36}, {'connected_gene': 'ABHD1', 'score': 11.18}, {'connected_gene': 'CAD', 'score': 10.98}, {'connected_gene': 'SLC30A3', 'score': 10.51}, {'connected_gene': 'DNAJC5G', 'score': 10.51}, {'connected_gene': 'CGREF1', 'score': 10.47}, {'connected_gene': 'KHK', 'score': 10.42}, {'connected_gene': 'EMILIN1', 'score': 10.4}, {'connected_gene': 'MPV17', 'score': 9.72}, {'connected_gene': 'GTF3C2-AS1', 'score': 9.45}, {'connected_gene': 'KRTCAP3', 'score': 4.73}, {'connected_gene': 'ENSG00000236099', 'score': 0.39}, {'connected_gene': 'GC02P027132', 'score': 0.28}]
chr2 GH02I027320 27320562 27324793 2.58 [{'connected_gene': 'MPV17', 'score': 550.77}, {'connected_gene': 'PIR47141', 'score': 550.77}, {'connected_gene': 'ATRAID', 'score': 24.88}, {'connected_gene': 'DNAJC5G', 'score': 11.07}, {'connected_gene': 'SLC30A3', 'score': 10.89}, {'connected_gene': 'SNX17', 'score': 10.76}, {'connected_gene': 'ZNF513', 'score': 10.38}, {'connected_gene': 'SLC5A6', 'score': 9.85}, {'connected_gene': 'EMILIN1', 'score': 9.66}, {'connected_gene': 'KHK', 'score': 9.66}, {'connected_gene': 'PREB', 'score': 9.32}, {'connected_gene': 'GTF3C2', 'score': 9.04}]
chr2 GH02I027353 27353349 27354981 1.11 [{'connected_gene': 'MPV17', 'score': 11.27}, {'connected_gene': 'ZNF513', 'score': 11.24}, {'connected_gene': 'UCN', 'score': 11.21}, {'connected_gene': 'TRIM54', 'score': 11.15}, {'connected_gene': 'NRBP1', 'score': 10.41}, {'connected_gene': 'KRTCAP3', 'score': 10.04}, {'connected_gene': 'IFT172', 'score': 9.99}, {'connected_gene': 'ATRAID', 'score': 9.76}, {'connected_gene': 'SLC5A6', 'score': 9.76}, {'connected_gene': 'PREB', 'score': 9.28}, {'connected_gene': 'ZNF512', 'score': 9.05}, {'connected_gene': 'CCDC121', 'score': 8.49}, {'connected_gene': 'GPN1', 'score': 8.49}, {'connected_gene': 'MAPRE3', 'score': 4.17}, {'connected_gene': 'GTF3C2', 'score': 0.77}, {'connected_gene': 'LOC105374363', 'score': 0.77}, {'connected_gene': 'GTF3C2-AS1', 'score': 0.37}]
chr2 GH02I027292 27292053 27292202 0.63 [{'connected_gene': 'MPV17', 'score': 10.71}, {'connected_gene': 'GTF3C2-AS1', 'score': 10.68}, {'connected_gene': 'GTF3C2', 'score': 10.62}, {'connected_gene': 'SLC5A6', 'score': 10.61}, {'connected_gene': 'ATRAID', 'score': 10.6}, {'connected_gene': 'SNX17', 'score': 9.99}, {'connected_gene': 'ZNF513', 'score': 9.97}, {'connected_gene': 'GC02P027296', 'score': 0.77}, {'connected_gene': 'TRIM54', 'score': 0.44}]
chr2 GH02I027085 27085082 27089890 2.25 [{'connected_gene': 'KHK', 'score': 587.0}, {'connected_gene': 'GC02M027085', 'score': 550.77}, {'connected_gene': 'SNX17', 'score': 22.72}, {'connected_gene': 'ATRAID', 'score': 20.71}, {'connected_gene': 'GTF3C2', 'score': 17.03}, {'connected_gene': 'NRBP1', 'score': 16.42}, {'connected_gene': 'TMEM214', 'score': 12.86}, {'connected_gene': 'CAD', 'score': 12.44}, {'connected_gene': 'LOC105374363', 'score': 12.16}, {'connected_gene': 'GPN1', 'score': 12.0}, {'connected_gene': 'SLC5A6', 'score': 11.03}, {'connected_gene': 'ABHD1', 'score': 10.98}, {'connected_gene': 'CGREF1', 'score': 10.8}, {'connected_gene': 'PREB', 'score': 10.77}, {'connected_gene': 'TRIM54', 'score': 10.43}, {'connected_gene': 'UCN', 'score': 10.42}, {'connected_gene': 'MPV17', 'score': 10.41}, {'connected_gene': 'EIF2B4', 'score': 9.71}, {'connected_gene': 'LOC100129724', 'score': 9.69}, {'connected_gene': 'MAPRE3', 'score': 9.62}, {'connected_gene': 'ZNF513', 'score': 8.88}, {'connected_gene': 'EMILIN1', 'score': 0.44}, {'connected_gene': 'GC02P027111', 'score': 0.34}]
chr2 GH02I027090 27090630 27097200 1.44 [{'connected_gene': 'KHK', 'score': 36.65}, {'connected_gene': 'ABHD1', 'score': 11.1}, {'connected_gene': 'CGREF1', 'score': 11.1}, {'connected_gene': 'ATRAID', 'score': 11.03}, {'connected_gene': 'SLC5A6', 'score': 11.03}, {'connected_gene': 'CAD', 'score': 10.92}, {'connected_gene': 'PRR30', 'score': 10.9}, {'connected_gene': 'TCF23', 'score': 10.87}, {'connected_gene': 'PREB', 'score': 10.8}, {'connected_gene': 'AGBL5-AS1', 'score': 10.44}, {'connected_gene': 'TRIM54', 'score': 10.43}, {'connected_gene': 'UCN', 'score': 10.42}, {'connected_gene': 'MPV17', 'score': 10.42}, {'connected_gene': 'AGBL5', 'score': 10.41}, {'connected_gene': 'SLC30A3', 'score': 10.2}, {'connected_gene': 'DNAJC5G', 'score': 10.2}, {'connected_gene': 'MAPRE3', 'score': 9.96}, {'connected_gene': 'LOC100129724', 'score': 9.81}, {'connected_gene': 'SNX17', 'score': 8.97}, {'connected_gene': 'ZNF513', 'score': 8.88}, {'connected_gene': 'GC02P027111', 'score': 0.37}]
chr2 GH02I027164 27164804 27165908 0.62 [{'connected_gene': 'GTF3C2', 'score': 15.37}, {'connected_gene': 'PRR30', 'score': 12.24}, {'connected_gene': 'PREB', 'score': 11.75}, {'connected_gene': 'ATRAID', 'score': 11.36}, {'connected_gene': 'SLC5A6', 'score': 11.36}, {'connected_gene': 'ABHD1', 'score': 11.29}, {'connected_gene': 'CGREF1', 'score': 11.08}, {'connected_gene': 'CAD', 'score': 10.87}, {'connected_gene': 'KHK', 'score': 10.63}, {'connected_gene': 'EMILIN1', 'score': 10.61}, {'connected_gene': 'TRIM54', 'score': 9.95}, {'connected_gene': 'UCN', 'score': 9.84}, {'connected_gene': 'MPV17', 'score': 9.82}, {'connected_gene': 'GTF3C2-AS1', 'score': 9.51}, {'connected_gene': 'MAPRE3', 'score': 9.19}, {'connected_gene': 'DPYSL5', 'score': 9.15}, {'connected_gene': 'ENSG00000236099', 'score': 0.44}, {'connected_gene': 'GC02P027132', 'score': 0.29}]
chr2 GH02I027049 27049448 27052689 2.14 [{'connected_gene': 'AGBL5-AS1', 'score': 550.77}, {'connected_gene': 'TRY-GTA2-1', 'score': 550.77}, {'connected_gene': 'PIR59385', 'score': 550.77}, {'connected_gene': 'PIR54422', 'score': 550.77}, {'connected_gene': 'GC02P027055', 'score': 550.77}, {'connected_gene': 'AGBL5', 'score': 550.44}, {'connected_gene': 'IFT172', 'score': 45.83}, {'connected_gene': 'SUPT7L', 'score': 45.46}, {'connected_gene': 'ZNF512', 'score': 45.05}, {'connected_gene': 'CAD', 'score': 41.46}, {'connected_gene': 'KHK', 'score': 33.18}, {'connected_gene': 'NRBP1', 'score': 32.98}, {'connected_gene': 'GPN1', 'score': 31.21}, {'connected_gene': 'GTF3C2', 'score': 28.57}, {'connected_gene': 'EIF2B4', 'score': 28.04}, {'connected_gene': 'SNX17', 'score': 23.97}, {'connected_gene': 'ENSG00000272148', 'score': 23.34}, {'connected_gene': 'LOC105374363', 'score': 22.62}, {'connected_gene': 'TMEM214', 'score': 21.0}, {'connected_gene': 'ATRAID', 'score': 20.31}, {'connected_gene': 'GAREM2', 'score': 12.12}, {'connected_gene': 'AGBL5-IT1', 'score': 11.82}, {'connected_gene': 'ENSG00000272056', 'score': 11.47}, {'connected_gene': 'ZNF513', 'score': 11.12}, {'connected_gene': 'MPV17', 'score': 10.35}, {'connected_gene': 'RPS2P15', 'score': 9.84}, {'connected_gene': 'SLC5A6', 'score': 5.23}]
chr2 GH02I027334 27334479 27334662 0.26 [{'connected_gene': 'GTF3C2-AS1', 'score': 550.77}, {'connected_gene': 'DPYSL5', 'score': 2.48}, {'connected_gene': 'C2orf16', 'score': 2.16}, {'connected_gene': 'MPV17', 'score': 0.44}, {'connected_gene': 'GTF3C2', 'score': 0.34}]
chr2 GH02I027316 27316774 27316923 0.2 [{'connected_gene': 'PIR47141', 'score': 0.77}, {'connected_gene': 'UCN', 'score': 0.44}, {'connected_gene': 'MPV17', 'score': 0.44}]
chr2 GH02I026902 26902986 26906698 0.38 [{'connected_gene': 'PIR42524', 'score': 550.77}, {'connected_gene': 'KHK', 'score': 22.11}, {'connected_gene': 'DPYSL5', 'score': 11.49}, {'connected_gene': 'MAPRE3', 'score': 10.7}, {'connected_gene': 'TRIM54', 'score': 9.39}, {'connected_gene': 'UCN', 'score': 9.39}, {'connected_gene': 'MPV17', 'score': 9.39}, {'connected_gene': 'CENPA', 'score': 8.27}]
chr2 GH02I027062 27062341 27064322 0.89 [{'connected_gene': 'ENSG00000272148', 'score': 550.77}, {'connected_gene': 'KHK', 'score': 43.94}, {'connected_gene': 'ATRAID', 'score': 10.34}, {'connected_gene': 'SLC5A6', 'score': 10.34}, {'connected_gene': 'LOC100129724', 'score': 10.1}, {'connected_gene': 'MAPRE3', 'score': 10.06}, {'connected_gene': 'LOC105374337', 'score': 10.04}, {'connected_gene': 'TRIM54', 'score': 9.69}, {'connected_gene': 'UCN', 'score': 9.68}, {'connected_gene': 'MPV17', 'score': 9.68}, {'connected_gene': 'ZNF512', 'score': 4.03}, {'connected_gene': 'OST4', 'score': 0.44}, {'connected_gene': 'AGBL5', 'score': 0.34}]

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