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
ENST00000259750 [[43211417, 43211446], [43214344, 43214506], [43220476, 43220624], [43221028, 43221102], [43221305, 43221446], [43222284, 43222389], [43222786, 43222852], [43223289, 43223382], [43223468, 43223594], [43225549, 43225704], [43226775, 43227007], [43227268, 43227444], [43230526, 43231088], [43250464, 43252050], [43252720, 43255997]] [[43214398, 43214506], [43220476, 43220624], [43221028, 43221102], [43221305, 43221446], [43222284, 43222389], [43222786, 43222852], [43223289, 43223382], [43223468, 43223594], [43225549, 43225704], [43226775, 43227007], [43227268, 43227444], [43230526, 43231088], [43250464, 43252050], [43252720, 43253114]]
ENST00000304139 [[43215726, 43215843], [43220476, 43220624], [43221028, 43221102], [43221305, 43221446], [43222284, 43222389], [43222786, 43222852], [43223289, 43223382], [43223468, 43223594], [43225549, 43225704], [43226775, 43227007], [43227268, 43227444], [43230526, 43231088], [43237380, 43237834]] [[43220521, 43220624], [43221028, 43221102], [43221305, 43221446], [43222284, 43222389], [43222786, 43222852], [43223289, 43223382], [43223468, 43223594], [43225549, 43225704], [43226775, 43227007], [43227268, 43227444], [43230526, 43231088], [43237380, 43237553]]
NM_032538 [[43211417, 43211446], [43214344, 43214506], [43220476, 43220624], [43221028, 43221102], [43221305, 43221446], [43222284, 43222389], [43222786, 43222852], [43223289, 43223382], [43223468, 43223594], [43225549, 43225704], [43226775, 43227007], [43227268, 43227444], [43230526, 43231088], [43250464, 43252050], [43252720, 43255997]] [[43214398, 43214506], [43220476, 43220624], [43221028, 43221102], [43221305, 43221446], [43222284, 43222389], [43222786, 43222852], [43223289, 43223382], [43223468, 43223594], [43225549, 43225704], [43226775, 43227007], [43227268, 43227444], [43230526, 43231088], [43250464, 43252050], [43252720, 43253114]]
Promoter
Chrom Start End Description
chr6 43211206 43211256 CAGE_peak_1_at_TTBK1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I043386 43386583 43386752 0.72 [{'connected_gene': 'ABCC10', 'score': 11.59}, {'connected_gene': 'RPL12P47', 'score': 11.24}, {'connected_gene': 'CRIP3', 'score': 11.24}, {'connected_gene': 'DLK2', 'score': 11.16}, {'connected_gene': 'TTBK1', 'score': 10.97}, {'connected_gene': 'DNPH1', 'score': 10.96}, {'connected_gene': 'POLR1C', 'score': 10.4}, {'connected_gene': 'YIPF3', 'score': 10.39}, {'connected_gene': 'LRRC73', 'score': 10.22}, {'connected_gene': 'SLC22A7', 'score': 5.97}, {'connected_gene': 'LOC105375065', 'score': 0.77}, {'connected_gene': 'GC06P043382', 'score': 0.77}, {'connected_gene': 'GC06P043362', 'score': 0.34}]
chr6 GH06I043238 43238043 43238192 0.83 [{'connected_gene': 'TTBK1', 'score': 0.44}, {'connected_gene': 'DNPH1', 'score': 0.44}]
chr6 GH06I043243 43243608 43243667 0.87 [{'connected_gene': 'TTBK1', 'score': 550.77}, {'connected_gene': 'LOC105375064', 'score': 0.28}]
chr6 GH06I043486 43486626 43487766 0.2 [{'connected_gene': 'DLK2', 'score': 11.89}, {'connected_gene': 'POLR1C', 'score': 11.67}, {'connected_gene': 'LRRC73', 'score': 11.67}, {'connected_gene': 'YIPF3', 'score': 11.64}, {'connected_gene': 'RPS2P29', 'score': 10.76}, {'connected_gene': 'ENSG00000252218', 'score': 10.75}, {'connected_gene': 'DNPH1', 'score': 10.37}, {'connected_gene': 'TTBK1', 'score': 10.37}, {'connected_gene': 'MAD2L1BP', 'score': 9.58}, {'connected_gene': 'GTPBP2', 'score': 9.58}, {'connected_gene': 'RSPH9', 'score': 9.57}, {'connected_gene': 'TJAP1', 'score': 0.44}, {'connected_gene': 'GC06P043482', 'score': 0.44}, {'connected_gene': 'GC06P043362', 'score': 0.13}]
chr6 GH06I043484 43484870 43486167 0.31 [{'connected_gene': 'DLK2', 'score': 12.2}, {'connected_gene': 'POLR1C', 'score': 11.67}, {'connected_gene': 'LRRC73', 'score': 11.64}, {'connected_gene': 'YIPF3', 'score': 11.62}, {'connected_gene': 'RPS2P29', 'score': 10.76}, {'connected_gene': 'ENSG00000252218', 'score': 10.75}, {'connected_gene': 'DNPH1', 'score': 10.37}, {'connected_gene': 'TTBK1', 'score': 10.37}, {'connected_gene': 'MAD2L1BP', 'score': 9.58}, {'connected_gene': 'GTPBP2', 'score': 9.58}, {'connected_gene': 'RSPH9', 'score': 9.57}, {'connected_gene': 'GC06P043482', 'score': 0.77}, {'connected_gene': 'TJAP1', 'score': 0.44}, {'connected_gene': 'GC06P043362', 'score': 0.13}]
chr6 GH06I043408 43408022 43408510 0.2 [{'connected_gene': 'ZNF318', 'score': 11.49}, {'connected_gene': 'TTBK1', 'score': 11.38}, {'connected_gene': 'DNPH1', 'score': 11.38}, {'connected_gene': 'DLK2', 'score': 11.06}, {'connected_gene': 'RNU6-1113P', 'score': 11.01}, {'connected_gene': 'TJAP1', 'score': 11.01}, {'connected_gene': 'POLR1C', 'score': 10.57}, {'connected_gene': 'YIPF3', 'score': 10.56}, {'connected_gene': 'LRRC73', 'score': 10.33}, {'connected_gene': 'GC06P043418', 'score': 0.44}, {'connected_gene': 'LOC105375065', 'score': 0.37}, {'connected_gene': 'GC06P043362', 'score': 0.25}]
chr6 GH06I043266 43266901 43280003 1.76 [{'connected_gene': 'ZNF318', 'score': 44.68}, {'connected_gene': 'POLH', 'score': 39.18}, {'connected_gene': 'POLR1C', 'score': 31.42}, {'connected_gene': 'GTPBP2', 'score': 30.6}, {'connected_gene': 'ABCC10', 'score': 28.97}, {'connected_gene': 'RPS2P29', 'score': 24.67}, {'connected_gene': 'CUL7', 'score': 19.48}, {'connected_gene': 'XPO5', 'score': 19.45}, {'connected_gene': 'UBR2', 'score': 16.08}, {'connected_gene': 'KLC4', 'score': 13.77}, {'connected_gene': 'BICRAL', 'score': 12.86}, {'connected_gene': 'DNPH1', 'score': 12.73}, {'connected_gene': 'CUL9', 'score': 12.72}, {'connected_gene': 'RRP36', 'score': 12.68}, {'connected_gene': 'ENSG00000271970', 'score': 11.15}, {'connected_gene': 'ENSG00000272223', 'score': 10.53}, {'connected_gene': 'SLC35B2', 'score': 10.37}, {'connected_gene': 'TJAP1', 'score': 9.85}, {'connected_gene': 'MRPL2', 'score': 5.42}, {'connected_gene': 'PEX6', 'score': 5.19}, {'connected_gene': 'SLC22A7', 'score': 2.5}, {'connected_gene': 'GNMT', 'score': 2.19}, {'connected_gene': 'CRIP3', 'score': 2.07}, {'connected_gene': 'LOC105375064', 'score': 0.39}, {'connected_gene': 'TTBK1', 'score': 0.31}]
chr6 GH06I043421 43421416 43422775 0.63 [{'connected_gene': 'ZNF318', 'score': 41.53}, {'connected_gene': 'POLR1C', 'score': 35.65}, {'connected_gene': 'CUL7', 'score': 27.47}, {'connected_gene': 'ABCC10', 'score': 26.24}, {'connected_gene': 'RPS2P29', 'score': 25.68}, {'connected_gene': 'POLH', 'score': 23.17}, {'connected_gene': 'XPO5', 'score': 21.49}, {'connected_gene': 'GTPBP2', 'score': 15.07}, {'connected_gene': 'ENSG00000272223', 'score': 12.53}, {'connected_gene': 'RPL34P14', 'score': 12.34}, {'connected_gene': 'UBR2', 'score': 12.32}, {'connected_gene': 'DLK2', 'score': 11.71}, {'connected_gene': 'PTK7', 'score': 11.64}, {'connected_gene': 'AARS2', 'score': 11.49}, {'connected_gene': 'ENSG00000271754', 'score': 11.37}, {'connected_gene': 'TTBK1', 'score': 11.36}, {'connected_gene': 'DNPH1', 'score': 11.35}, {'connected_gene': 'RRP36', 'score': 11.33}, {'connected_gene': 'YIPF3', 'score': 10.95}, {'connected_gene': 'PEX6', 'score': 10.81}, {'connected_gene': 'SLC22A7', 'score': 10.67}, {'connected_gene': 'BICRAL', 'score': 10.53}, {'connected_gene': 'LRRC73', 'score': 10.51}, {'connected_gene': 'CUL9', 'score': 10.49}, {'connected_gene': 'GC06P043418', 'score': 0.77}, {'connected_gene': 'LOC105375065', 'score': 0.29}, {'connected_gene': 'GC06P043362', 'score': 0.22}]
chr6 GH06I043246 43246300 43248072 1.53 [{'connected_gene': 'ZNF318', 'score': 21.35}, {'connected_gene': 'ENSG00000271970', 'score': 13.32}, {'connected_gene': 'CUL9', 'score': 12.77}, {'connected_gene': 'POLR1C', 'score': 12.65}, {'connected_gene': 'POLH', 'score': 12.37}, {'connected_gene': 'RPS2P29', 'score': 12.05}, {'connected_gene': 'TJAP1', 'score': 11.38}, {'connected_gene': 'XPO5', 'score': 11.18}, {'connected_gene': 'MRPL2', 'score': 5.48}, {'connected_gene': 'DNPH1', 'score': 4.8}, {'connected_gene': 'TTBK1', 'score': 0.77}, {'connected_gene': 'LOC105375064', 'score': 0.28}]
chr6 GH06I043260 43260978 43261371 0.45 [{'connected_gene': 'SLC22A7', 'score': 17.29}, {'connected_gene': 'TJAP1', 'score': 11.73}, {'connected_gene': 'ZNF318', 'score': 11.62}, {'connected_gene': 'CRIP3', 'score': 11.49}, {'connected_gene': 'RPL12P47', 'score': 11.49}, {'connected_gene': 'DLK2', 'score': 11.1}, {'connected_gene': 'DNPH1', 'score': 11.07}, {'connected_gene': 'ENSG00000245261', 'score': 11.05}, {'connected_gene': 'CUL9', 'score': 10.95}, {'connected_gene': 'YIPF3', 'score': 10.91}, {'connected_gene': 'POLR1C', 'score': 10.91}, {'connected_gene': 'LRRC73', 'score': 10.91}, {'connected_gene': 'RNU6-1113P', 'score': 10.57}, {'connected_gene': 'GNMT', 'score': 4.32}, {'connected_gene': 'TTBK1', 'score': 3.27}, {'connected_gene': 'KLC4', 'score': 2.75}, {'connected_gene': 'LOC105375064', 'score': 0.34}]
chr6 GH06I043312 43312563 43313600 0.74 [{'connected_gene': 'SLC22A7', 'score': 14.2}, {'connected_gene': 'TTBK1', 'score': 11.19}, {'connected_gene': 'DNPH1', 'score': 11.16}, {'connected_gene': 'DLK2', 'score': 10.48}, {'connected_gene': 'POLR1C', 'score': 10.03}, {'connected_gene': 'LRRC73', 'score': 10.03}, {'connected_gene': 'YIPF3', 'score': 10.03}, {'connected_gene': 'RNU6-1113P', 'score': 9.89}, {'connected_gene': 'TJAP1', 'score': 9.89}, {'connected_gene': 'ZNF318', 'score': 6.55}, {'connected_gene': 'RPL12P47', 'score': 0.77}, {'connected_gene': 'RPL34P14', 'score': 0.39}]
chr6 GH06I043311 43311401 43312081 0.31 [{'connected_gene': 'RPL12P47', 'score': 550.77}, {'connected_gene': 'TTBK1', 'score': 11.19}, {'connected_gene': 'DNPH1', 'score': 11.16}, {'connected_gene': 'DLK2', 'score': 10.48}, {'connected_gene': 'POLR1C', 'score': 10.03}, {'connected_gene': 'LRRC73', 'score': 10.03}, {'connected_gene': 'YIPF3', 'score': 10.03}, {'connected_gene': 'TJAP1', 'score': 9.9}, {'connected_gene': 'RNU6-1113P', 'score': 9.89}, {'connected_gene': 'SLC22A7', 'score': 9.24}, {'connected_gene': 'ZNF318', 'score': 8.16}, {'connected_gene': 'RPL34P14', 'score': 0.37}]
chr6 GH06I043184 43184881 43186393 0.72 [{'connected_gene': 'DNPH1', 'score': 34.18}, {'connected_gene': 'ENSG00000245261', 'score': 11.53}, {'connected_gene': 'TTBK1', 'score': 11.02}, {'connected_gene': 'PPP2R5D', 'score': 10.01}, {'connected_gene': 'PEX6', 'score': 9.97}, {'connected_gene': 'MEA1', 'score': 9.73}, {'connected_gene': 'KLHDC3', 'score': 9.73}, {'connected_gene': 'CUL7', 'score': 7.05}, {'connected_gene': 'CUL9', 'score': 0.77}]
chr6 GH06I043263 43263400 43263801 1.1 [{'connected_gene': 'DNPH1', 'score': 6.3}, {'connected_gene': 'TTBK1', 'score': 0.34}, {'connected_gene': 'LOC105375064', 'score': 0.34}]
chr6 GH06I043261 43261656 43263074 1.18 [{'connected_gene': 'DNPH1', 'score': 27.24}, {'connected_gene': 'SLC22A7', 'score': 12.34}, {'connected_gene': 'ZNF318', 'score': 11.62}, {'connected_gene': 'RPL12P47', 'score': 11.49}, {'connected_gene': 'CRIP3', 'score': 11.49}, {'connected_gene': 'DLK2', 'score': 11.1}, {'connected_gene': 'ENSG00000245261', 'score': 11.05}, {'connected_gene': 'CUL9', 'score': 10.95}, {'connected_gene': 'YIPF3', 'score': 10.91}, {'connected_gene': 'POLR1C', 'score': 10.91}, {'connected_gene': 'LRRC73', 'score': 10.91}, {'connected_gene': 'TJAP1', 'score': 10.57}, {'connected_gene': 'RNU6-1113P', 'score': 10.57}, {'connected_gene': 'PEX6', 'score': 4.43}, {'connected_gene': 'TTBK1', 'score': 1.9}, {'connected_gene': 'LOC105375064', 'score': 0.34}]
chr6 GH06I043265 43265124 43265955 0.76 [{'connected_gene': 'DNPH1', 'score': 6.24}, {'connected_gene': 'LOC105375064', 'score': 0.37}, {'connected_gene': 'TTBK1', 'score': 0.34}]
chr6 GH06I043286 43286824 43288275 0.93 [{'connected_gene': 'DNPH1', 'score': 11.55}, {'connected_gene': 'LOC105375064', 'score': 0.77}, {'connected_gene': 'SLC22A7', 'score': 0.44}, {'connected_gene': 'TTBK1', 'score': 0.26}]
chr6 GH06I043390 43390704 43394200 1.35 [{'connected_gene': 'LOC105375065', 'score': 550.77}, {'connected_gene': 'GTPBP2', 'score': 13.36}, {'connected_gene': 'POLH', 'score': 12.59}, {'connected_gene': 'ABCC10', 'score': 11.62}, {'connected_gene': 'RPL12P47', 'score': 11.23}, {'connected_gene': 'CRIP3', 'score': 11.23}, {'connected_gene': 'UBR2', 'score': 11.17}, {'connected_gene': 'DLK2', 'score': 11.16}, {'connected_gene': 'TTBK1', 'score': 10.97}, {'connected_gene': 'DNPH1', 'score': 10.95}, {'connected_gene': 'POLR1C', 'score': 10.4}, {'connected_gene': 'YIPF3', 'score': 10.4}, {'connected_gene': 'LRRC73', 'score': 10.22}, {'connected_gene': 'ZNF318', 'score': 7.21}, {'connected_gene': 'GC06P043418', 'score': 0.31}, {'connected_gene': 'GC06P043362', 'score': 0.29}]
chr6 GH06I043284 43284232 43284581 0.31 [{'connected_gene': 'LOC105375064', 'score': 550.77}, {'connected_gene': 'PEX6', 'score': 4.74}, {'connected_gene': 'SLC22A7', 'score': 0.39}, {'connected_gene': 'TTBK1', 'score': 0.26}]
chr6 GH06I043327 43327861 43328112 0.47 [{'connected_gene': 'RPL34P14', 'score': 550.77}, {'connected_gene': 'TJAP1', 'score': 11.87}, {'connected_gene': 'SLC22A7', 'score': 11.23}, {'connected_gene': 'TTBK1', 'score': 10.88}, {'connected_gene': 'DNPH1', 'score': 10.86}, {'connected_gene': 'ZNF318', 'score': 10.75}, {'connected_gene': 'RNU6-1113P', 'score': 10.46}, {'connected_gene': 'DLK2', 'score': 10.28}, {'connected_gene': 'POLR1C', 'score': 10.24}, {'connected_gene': 'YIPF3', 'score': 10.24}, {'connected_gene': 'CUL7', 'score': 9.38}, {'connected_gene': 'KLC4', 'score': 9.08}, {'connected_gene': 'RN7SL403P', 'score': 9.07}, {'connected_gene': 'GC06P043362', 'score': 0.29}]
chr6 GH06I043328 43328623 43328772 0.68 [{'connected_gene': 'RPL34P14', 'score': 550.77}, {'connected_gene': 'TTBK1', 'score': 11.24}, {'connected_gene': 'DNPH1', 'score': 11.23}, {'connected_gene': 'ZNF318', 'score': 11.17}, {'connected_gene': 'DLK2', 'score': 10.51}, {'connected_gene': 'CUL9', 'score': 10.51}, {'connected_gene': 'POLR1C', 'score': 10.1}, {'connected_gene': 'LRRC73', 'score': 10.1}, {'connected_gene': 'YIPF3', 'score': 10.1}, {'connected_gene': 'GC06P043362', 'score': 0.29}]
chr6 GH06I043382 43382532 43385184 1.23 [{'connected_gene': 'GC06P043382', 'score': 550.77}, {'connected_gene': 'SLC22A7', 'score': 11.7}, {'connected_gene': 'ABCC10', 'score': 11.59}, {'connected_gene': 'CRIP3', 'score': 11.25}, {'connected_gene': 'RPL12P47', 'score': 11.25}, {'connected_gene': 'DLK2', 'score': 11.14}, {'connected_gene': 'TTBK1', 'score': 10.97}, {'connected_gene': 'DNPH1', 'score': 10.96}, {'connected_gene': 'TJAP1', 'score': 10.95}, {'connected_gene': 'RNU6-1113P', 'score': 10.95}, {'connected_gene': 'POLR1C', 'score': 10.73}, {'connected_gene': 'LRRC73', 'score': 10.73}, {'connected_gene': 'YIPF3', 'score': 10.72}, {'connected_gene': 'ZNF318', 'score': 7.31}, {'connected_gene': 'LOC105375065', 'score': 0.44}, {'connected_gene': 'GC06P043362', 'score': 0.34}]

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