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
ENST00000367178 [[155054458, 155055064], [155095122, 155095206], [155099134, 155099179], [155108994, 155109156], [155113956, 155114110], [155116142, 155116273], [155123104, 155123281], [155124677, 155124757], [155126502, 155126620], [155129203, 155129335], [155129819, 155129932], [155131148, 155131342], [155136849, 155136950], [155139612, 155139726], [155141310, 155141467], [155143409, 155143543], [155145367, 155145512], [155148305, 155148374], [155152055, 155152274], [155153072, 155155192]] [[155055034, 155055064], [155095122, 155095206], [155099134, 155099179], [155108994, 155109156], [155113956, 155114110], [155116142, 155116273], [155123104, 155123281], [155124677, 155124757], [155126502, 155126620], [155129203, 155129335], [155129819, 155129932], [155131148, 155131342], [155136849, 155136950], [155139612, 155139726], [155141310, 155141467], [155143409, 155143543], [155145367, 155145512], [155148305, 155148374], [155152055, 155152274], [155153072, 155154529]]
ENST00000461219 [[155054511, 155054637], [155054928, 155055064], [155095122, 155095206], [155099134, 155099179], [155108994, 155109156], [155113956, 155114080]] None
ENST00000417268 [[155054511, 155054637], [155054928, 155055064], [155095122, 155095206], [155099134, 155099179], [155108994, 155109156], [155113956, 155114110], [155116142, 155116273], [155123104, 155123281], [155124677, 155124757], [155126502, 155126620], [155129203, 155129335], [155129819, 155129932], [155131148, 155131342], [155136849, 155136950], [155139612, 155139726], [155141310, 155141467], [155143409, 155143543], [155145367, 155145512], [155148305, 155148374], [155152055, 155152274], [155153072, 155155190]] [[155055034, 155055064], [155095122, 155095206], [155099134, 155099179], [155108994, 155109156], [155113956, 155114110], [155116142, 155116273], [155123104, 155123281], [155124677, 155124757], [155126502, 155126620], [155129203, 155129335], [155129819, 155129932], [155131148, 155131342], [155136849, 155136950], [155139612, 155139726], [155141310, 155141467], [155143409, 155143543], [155145367, 155145512], [155148305, 155148374], [155152055, 155152274], [155153072, 155154529]]
ENST00000367186 [[155054549, 155054637], [155054980, 155055064], [155063089, 155063152], [155095122, 155095206], [155099134, 155099179], [155108994, 155109156], [155113956, 155114110], [155116142, 155116273], [155123104, 155123281], [155124677, 155124757], [155126502, 155126620], [155129203, 155129335], [155129819, 155129932], [155131148, 155131342], [155136849, 155136950], [155139612, 155139726], [155141310, 155141467], [155143409, 155143543], [155145367, 155145512], [155148305, 155148374], [155152055, 155152274], [155153072, 155155192]] [[155054556, 155054637], [155054980, 155055064], [155063089, 155063152], [155095122, 155095206], [155099134, 155099179], [155108994, 155109156], [155113956, 155114110], [155116142, 155116273], [155123104, 155123281], [155124677, 155124757], [155126502, 155126620], [155129203, 155129335], [155129819, 155129932], [155131148, 155131342], [155136849, 155136950], [155139612, 155139726], [155141310, 155141467], [155143409, 155143543], [155145367, 155145512], [155148305, 155148374], [155152055, 155152274], [155153072, 155154529]]
ENST00000464628 [[155054986, 155055064], [155063089, 155063152], [155095122, 155095206], [155099134, 155099179], [155108994, 155109156], [155113956, 155113992]] None
ENST00000479234 [[155143295, 155143513], [155146013, 155146076]] None
NM_001286194 [[155054511, 155054637], [155054980, 155055064], [155095122, 155095206], [155099134, 155099179], [155108994, 155109156], [155113956, 155114110], [155116142, 155116273], [155123104, 155123281], [155124677, 155124757], [155126502, 155126620], [155129203, 155129335], [155129819, 155129932], [155131148, 155131342], [155136849, 155136950], [155139612, 155139726], [155141310, 155141467], [155143409, 155143543], [155145367, 155145512], [155148305, 155148374], [155152055, 155152274], [155153072, 155155378]] [[155054556, 155054637], [155054980, 155055064], [155095122, 155095206], [155099134, 155099179], [155108994, 155109156], [155113956, 155114110], [155116142, 155116273], [155123104, 155123281], [155124677, 155124757], [155126502, 155126620], [155129203, 155129335], [155129819, 155129932], [155131148, 155131342], [155136849, 155136950], [155139612, 155139726], [155141310, 155141467], [155143409, 155143543], [155145367, 155145512], [155148305, 155148374], [155152055, 155152274], [155153072, 155154529]]
NM_001286189 [[155054511, 155054637], [155054980, 155055064], [155063089, 155063152], [155095122, 155095206], [155099134, 155099179], [155108994, 155109156], [155113956, 155114110], [155116142, 155116273], [155123104, 155123281], [155124677, 155124757], [155126502, 155126620], [155129203, 155129335], [155129819, 155129932], [155131148, 155131342], [155136849, 155136950], [155139612, 155139726], [155141310, 155141467], [155143409, 155143543], [155145367, 155145512], [155148305, 155148374], [155152055, 155152274], [155153072, 155155378]] [[155054556, 155054637], [155054980, 155055064], [155063089, 155063152], [155095122, 155095206], [155099134, 155099179], [155108994, 155109156], [155113956, 155114110], [155116142, 155116273], [155123104, 155123281], [155124677, 155124757], [155126502, 155126620], [155129203, 155129335], [155129819, 155129932], [155131148, 155131342], [155136849, 155136950], [155139612, 155139726], [155141310, 155141467], [155143409, 155143543], [155145367, 155145512], [155148305, 155148374], [155152055, 155152274], [155153072, 155154529]]
NM_001286199 [[155054511, 155054637], [155054928, 155055064], [155095122, 155095206], [155099134, 155099179], [155108994, 155109156], [155113956, 155114110], [155116142, 155116273], [155123104, 155123281], [155124677, 155124757], [155126502, 155126620], [155129203, 155129335], [155129819, 155129932], [155131148, 155131342], [155136849, 155136950], [155139612, 155139726], [155141310, 155141467], [155143409, 155143543], [155145367, 155145512], [155148305, 155148374], [155152055, 155152274], [155153072, 155155378]] [[155055034, 155055064], [155095122, 155095206], [155099134, 155099179], [155108994, 155109156], [155113956, 155114110], [155116142, 155116273], [155123104, 155123281], [155124677, 155124757], [155126502, 155126620], [155129203, 155129335], [155129819, 155129932], [155131148, 155131342], [155136849, 155136950], [155139612, 155139726], [155141310, 155141467], [155143409, 155143543], [155145367, 155145512], [155148305, 155148374], [155152055, 155152274], [155153072, 155154529]]
NM_001286188 [[155054511, 155054684], [155054928, 155055064], [155095122, 155095206], [155099134, 155099179], [155108994, 155109156], [155113956, 155114110], [155116142, 155116273], [155123104, 155123281], [155124677, 155124757], [155126502, 155126620], [155129203, 155129335], [155129819, 155129932], [155131148, 155131342], [155136849, 155136950], [155139612, 155139726], [155141310, 155141467], [155143409, 155143543], [155145367, 155145512], [155148305, 155148374], [155152055, 155152274], [155153072, 155155378]] [[155054556, 155054684], [155054928, 155055064], [155095122, 155095206], [155099134, 155099179], [155108994, 155109156], [155113956, 155114110], [155116142, 155116273], [155123104, 155123281], [155124677, 155124757], [155126502, 155126620], [155129203, 155129335], [155129819, 155129932], [155131148, 155131342], [155136849, 155136950], [155139612, 155139726], [155141310, 155141467], [155143409, 155143543], [155145367, 155145512], [155148305, 155148374], [155152055, 155152274], [155153072, 155154529]]
NM_014892 [[155054511, 155055064], [155095122, 155095206], [155099134, 155099179], [155108994, 155109156], [155113956, 155114110], [155116142, 155116273], [155123104, 155123281], [155124677, 155124757], [155126502, 155126620], [155129203, 155129335], [155129819, 155129932], [155131148, 155131342], [155136849, 155136950], [155139612, 155139726], [155141310, 155141467], [155143409, 155143543], [155145367, 155145512], [155148305, 155148374], [155152055, 155152274], [155153072, 155155378]] [[155055034, 155055064], [155095122, 155095206], [155099134, 155099179], [155108994, 155109156], [155113956, 155114110], [155116142, 155116273], [155123104, 155123281], [155124677, 155124757], [155126502, 155126620], [155129203, 155129335], [155129819, 155129932], [155131148, 155131342], [155136849, 155136950], [155139612, 155139726], [155141310, 155141467], [155143409, 155143543], [155145367, 155145512], [155148305, 155148374], [155152055, 155152274], [155153072, 155154529]]
Promoter
Chrom Start End Description
chr6 155054530 155054561 CAGE_peak_1_at_SCAF8_5end
chr6 155054797 155054839 CAGE_peak_2_at_SCAF8_5end
chr6 155054957 155054968 CAGE_peak_3_at_SCAF8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I155312 155312924 155317016 2.32 [{'connected_gene': 'TFB1M', 'score': 568.32}, {'connected_gene': 'SCAF8', 'score': 35.66}, {'connected_gene': 'ENSG00000235381', 'score': 20.29}, {'connected_gene': 'TIAM2', 'score': 6.62}, {'connected_gene': 'GC06M155324', 'score': 0.25}, {'connected_gene': 'GC06P154934', 'score': 0.05}]
chr6 GH06I153787 153787142 153788071 0.65 [{'connected_gene': 'FBXO5', 'score': 54.85}, {'connected_gene': 'SCAF8', 'score': 54.06}, {'connected_gene': 'RPL27AP6', 'score': 10.93}, {'connected_gene': 'RNU6-896P', 'score': 0.14}, {'connected_gene': 'GC06M153939', 'score': 0.1}]
chr6 GH06I153786 153786786 153786895 0.68 [{'connected_gene': 'FBXO5', 'score': 54.85}, {'connected_gene': 'SCAF8', 'score': 54.06}, {'connected_gene': 'RGS17', 'score': 11.36}, {'connected_gene': 'RPL27AP6', 'score': 10.93}, {'connected_gene': 'RNU6-896P', 'score': 0.14}, {'connected_gene': 'GC06M153939', 'score': 0.1}]
chr6 GH06I155223 155223547 155225040 1.27 [{'connected_gene': 'TIAM2', 'score': 23.71}, {'connected_gene': 'SCAF8', 'score': 5.37}, {'connected_gene': 'ENSG00000235381', 'score': 0.29}, {'connected_gene': 'LOC100421330', 'score': 0.08}, {'connected_gene': 'GC06P154934', 'score': 0.06}]
chr6 GH06I154386 154386812 154388387 1.04 [{'connected_gene': 'IPCEF1', 'score': 11.63}, {'connected_gene': 'SCAF8', 'score': 10.58}, {'connected_gene': 'LOC105378067', 'score': 0.34}, {'connected_gene': 'LOC101928868', 'score': 0.13}, {'connected_gene': 'CNKSR3', 'score': 0.13}]
chr6 GH06I154256 154256817 154258800 1.17 [{'connected_gene': 'IPCEF1', 'score': 11.28}, {'connected_gene': 'SCAF8', 'score': 1.43}, {'connected_gene': 'GC06P154217', 'score': 0.26}]
chr6 GH06I155025 155025707 155027223 1.05 [{'connected_gene': 'SCAF8', 'score': 10.58}, {'connected_gene': 'LOC646274', 'score': 4.44}, {'connected_gene': 'LOC100421330', 'score': 0.34}, {'connected_gene': 'GC06P154934', 'score': 0.16}, {'connected_gene': 'TIAM2', 'score': 0.08}, {'connected_gene': 'ENSG00000235381', 'score': 0.07}]
chr6 GH06I154675 154675687 154675876 1 [{'connected_gene': 'SCAF8', 'score': 27.52}, {'connected_gene': 'GC06P154648', 'score': 0.31}, {'connected_gene': 'LOC646274', 'score': 0.29}]
chr6 GH06I154652 154652895 154654800 0.92 [{'connected_gene': 'SCAF8', 'score': 2.11}, {'connected_gene': 'GC06P154648', 'score': 0.44}, {'connected_gene': 'LOC646274', 'score': 0.23}]
chr6 GH06I154612 154612986 154616099 1.24 [{'connected_gene': 'SCAF8', 'score': 10.65}, {'connected_gene': 'CNKSR3', 'score': 5.27}, {'connected_gene': 'RPL31P29', 'score': 0.44}, {'connected_gene': 'GC06P154648', 'score': 0.29}]
chr6 GH06I154457 154457070 154459001 1.04 [{'connected_gene': 'SCAF8', 'score': 15.93}, {'connected_gene': 'LOC101928868', 'score': 0.23}, {'connected_gene': 'CNKSR3', 'score': 0.23}, {'connected_gene': 'LOC105378067', 'score': 0.15}]
chr6 GH06I154459 154459201 154461703 1.14 [{'connected_gene': 'SCAF8', 'score': 24.83}, {'connected_gene': 'LOC101928868', 'score': 0.25}, {'connected_gene': 'CNKSR3', 'score': 0.23}, {'connected_gene': 'LOC105378067', 'score': 0.15}]
chr6 GH06I155185 155185495 155186676 0.86 [{'connected_gene': 'SCAF8', 'score': 14.51}, {'connected_gene': 'ENSG00000235381', 'score': 0.19}, {'connected_gene': 'LOC100421330', 'score': 0.09}, {'connected_gene': 'GC06P154934', 'score': 0.07}, {'connected_gene': 'TIAM2', 'score': 0.05}]
chr6 GH06I154980 154980564 154982256 0.67 [{'connected_gene': 'SCAF8', 'score': 5.0}, {'connected_gene': 'GC06P154966', 'score': 0.39}, {'connected_gene': 'LOC100421330', 'score': 0.34}, {'connected_gene': 'GC06P154934', 'score': 0.25}, {'connected_gene': 'TIAM2', 'score': 0.11}]
chr6 GH06I155199 155199289 155202764 1.49 [{'connected_gene': 'SCAF8', 'score': 1.39}, {'connected_gene': 'ENSG00000235381', 'score': 0.22}, {'connected_gene': 'LOC100421330', 'score': 0.08}, {'connected_gene': 'GC06P154934', 'score': 0.06}, {'connected_gene': 'TIAM2', 'score': 0.05}]
chr6 GH06I155174 155174588 155175228 1.27 [{'connected_gene': 'SCAF8', 'score': 5.62}, {'connected_gene': 'ENSG00000235381', 'score': 0.18}, {'connected_gene': 'LOC100421330', 'score': 0.1}, {'connected_gene': 'GC06P154934', 'score': 0.07}, {'connected_gene': 'TIAM2', 'score': 0.05}]
chr6 GH06I154994 154994800 154996573 1.34 [{'connected_gene': 'SCAF8', 'score': 17.0}, {'connected_gene': 'ENSG00000238963', 'score': 10.7}, {'connected_gene': 'LOC100421330', 'score': 0.44}, {'connected_gene': 'GC06P154966', 'score': 0.31}, {'connected_gene': 'GC06P154934', 'score': 0.21}, {'connected_gene': 'TIAM2', 'score': 0.1}]
chr6 GH06I154805 154805407 154805556 0.56 [{'connected_gene': 'SCAF8', 'score': 12.22}, {'connected_gene': 'GC06M154826', 'score': 0.37}, {'connected_gene': 'GC06P154648', 'score': 0.1}]
chr6 GH06I154758 154758001 154759000 0.43 [{'connected_gene': 'SCAF8', 'score': 0.31}, {'connected_gene': 'GC06M154826', 'score': 0.2}, {'connected_gene': 'GC06P154648', 'score': 0.14}]
chr6 GH06I154738 154738540 154739351 0.79 [{'connected_gene': 'SCAF8', 'score': 0.44}, {'connected_gene': 'GC06M154826', 'score': 0.17}, {'connected_gene': 'GC06P154648', 'score': 0.16}]
chr6 GH06I154731 154731847 154735251 2.08 [{'connected_gene': 'SCAF8', 'score': 576.91}, {'connected_gene': 'GC06P154648', 'score': 0.17}, {'connected_gene': 'GC06M154826', 'score': 0.16}]
chr6 GH06I154736 154736401 154737200 0.46 [{'connected_gene': 'SCAF8', 'score': 0.77}, {'connected_gene': 'GC06P154648', 'score': 0.17}, {'connected_gene': 'GC06M154826', 'score': 0.17}]
chr6 GH06I154786 154786247 154786396 0.56 [{'connected_gene': 'SCAF8', 'score': 11.44}, {'connected_gene': 'GC06M154826', 'score': 0.28}, {'connected_gene': 'GC06P154648', 'score': 0.12}]
chr6 GH06I154753 154753807 154754887 0.63 [{'connected_gene': 'SCAF8', 'score': 0.34}, {'connected_gene': 'GC06M154826', 'score': 0.19}, {'connected_gene': 'GC06P154648', 'score': 0.14}]
chr6 GH06I154744 154744201 154744400 0.49 [{'connected_gene': 'SCAF8', 'score': 0.39}, {'connected_gene': 'GC06M154826', 'score': 0.18}, {'connected_gene': 'GC06P154648', 'score': 0.15}]
chr6 GH06I154791 154791394 154793040 0.43 [{'connected_gene': 'SCAF8', 'score': 11.83}, {'connected_gene': 'GC06M154826', 'score': 0.29}, {'connected_gene': 'GC06P154648', 'score': 0.11}]
chr6 GH06I154767 154767001 154767800 0.51 [{'connected_gene': 'SCAF8', 'score': 12.17}, {'connected_gene': 'GC06M154826', 'score': 0.22}, {'connected_gene': 'GC06P154648', 'score': 0.13}]
chr6 GH06I154567 154567016 154568061 0.6 [{'connected_gene': 'CNKSR3', 'score': 19.37}, {'connected_gene': 'SCAF8', 'score': 10.62}, {'connected_gene': 'RPS4XP8', 'score': 0.44}, {'connected_gene': 'LOC100129996', 'score': 0.37}]
chr6 GH06I154243 154243249 154251096 2.02 [{'connected_gene': 'CNKSR3', 'score': 4.29}, {'connected_gene': 'SCAF8', 'score': 2.72}, {'connected_gene': 'GC06P154217', 'score': 0.29}, {'connected_gene': 'IPCEF1', 'score': 0.14}, {'connected_gene': 'OPRM1', 'score': 0.07}]
chr6 GH06I154852 154852767 154852896 0.91 [{'connected_gene': 'MIR1273C', 'score': 550.77}, {'connected_gene': 'SCAF8', 'score': 11.28}, {'connected_gene': 'ENSG00000238963', 'score': 11.07}, {'connected_gene': 'ENSG00000218757', 'score': 0.44}, {'connected_gene': 'TIAM2', 'score': 0.34}, {'connected_gene': 'GC06P154648', 'score': 0.08}]
chr6 GH06I154606 154606403 154606789 1.05 [{'connected_gene': 'RPL31P29', 'score': 550.77}, {'connected_gene': 'CNKSR3', 'score': 5.37}, {'connected_gene': 'SCAF8', 'score': 4.55}, {'connected_gene': 'GC06P154648', 'score': 0.26}]
chr6 GH06I154547 154547988 154548967 1.29 [{'connected_gene': 'LOC100129996', 'score': 550.77}, {'connected_gene': 'SCAF8', 'score': 21.77}, {'connected_gene': 'CNKSR3', 'score': 11.98}, {'connected_gene': 'IPCEF1', 'score': 10.38}, {'connected_gene': 'ENSG00000275419', 'score': 0.44}]
chr6 GH06I155187 155187802 155191558 1.29 [{'connected_gene': 'ENSG00000238963', 'score': 11.48}, {'connected_gene': 'TIAM2', 'score': 10.98}, {'connected_gene': 'SCAF8', 'score': 1.43}, {'connected_gene': 'ENSG00000235381', 'score': 0.2}, {'connected_gene': 'LOC100421330', 'score': 0.09}, {'connected_gene': 'GC06P154934', 'score': 0.07}]
chr6 GH06I154863 154863289 154864520 0.66 [{'connected_gene': 'ENSG00000238963', 'score': 11.78}, {'connected_gene': 'SCAF8', 'score': 10.99}, {'connected_gene': 'MIR1273C', 'score': 0.39}, {'connected_gene': 'TIAM2', 'score': 0.29}]
chr6 GH06I155170 155170383 155172587 1.56 [{'connected_gene': 'ENSG00000238963', 'score': 11.5}, {'connected_gene': 'SCAF8', 'score': 2.66}, {'connected_gene': 'ENSG00000235381', 'score': 0.17}, {'connected_gene': 'LOC100421330', 'score': 0.1}, {'connected_gene': 'GC06P154934', 'score': 0.07}, {'connected_gene': 'TIAM2', 'score': 0.05}]
chr6 GH06I154716 154716967 154717096 0.57 [{'connected_gene': 'ENSG00000238963', 'score': 10.14}, {'connected_gene': 'GC06P154707', 'score': 0.39}, {'connected_gene': 'SCAF8', 'score': 0.37}, {'connected_gene': 'GC06P154648', 'score': 0.2}]
chr6 GH06I154814 154814107 154814256 0.2 [{'connected_gene': 'GC06M154826', 'score': 0.39}, {'connected_gene': 'SCAF8', 'score': 0.18}, {'connected_gene': 'GC06P154648', 'score': 0.1}]

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