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
ENST00000450656 [[57843887, 57843957], [57844805, 57845170], [57852519, 57852592], [57856913, 57857013]] [[57845151, 57845170], [57852519, 57852592], [57856913, 57857013]]
ENST00000381227 [[57843907, 57843974], [57844805, 57845170], [57852519, 57852592], [57856913, 57857064], [57860569, 57860682], [57860812, 57861032], [57861416, 57861575], [57865782, 57865947], [57871411, 57871608], [57871765, 57871885], [57872981, 57873168], [57876526, 57876670], [57876913, 57877053], [57877154, 57877266], [57881667, 57881822], [57883208, 57883407], [57883725, 57883894], [57887064, 57887161], [57888317, 57888412], [57889495, 57889746], [57889827, 57889917], [57890170, 57890278], [57891051, 57891165], [57891542, 57891703], [57896369, 57896565], [57897064, 57897324]] [[57845151, 57845170], [57852519, 57852592], [57856913, 57857064], [57860569, 57860682], [57860812, 57861032], [57861416, 57861575], [57865782, 57865947], [57871411, 57871608], [57871765, 57871885], [57872981, 57873168], [57876526, 57876670], [57876913, 57877053], [57877154, 57877266], [57881667, 57881822], [57883208, 57883407], [57883725, 57883894], [57887064, 57887161], [57888317, 57888412], [57889495, 57889746], [57889827, 57889917], [57890170, 57890278], [57891051, 57891165], [57891542, 57891703], [57896369, 57896565], [57897064, 57897154]]
ENST00000495311 [[57843947, 57844166], [57844805, 57845127]] None
ENST00000431623 [[57845029, 57845170], [57852519, 57852592], [57860569, 57860682], [57860812, 57861032], [57861416, 57861575], [57865782, 57865947], [57871411, 57871608], [57871765, 57871885], [57872981, 57873168], [57876526, 57876670], [57876913, 57877053], [57877154, 57877266], [57881667, 57881822], [57883208, 57883407], [57883725, 57883894], [57887064, 57887161], [57888317, 57888412], [57889495, 57889746], [57889827, 57889917], [57890170, 57890278], [57891051, 57891165], [57891542, 57891703], [57896369, 57896565], [57897064, 57897324]] [[57852574, 57852592], [57860569, 57860682], [57860812, 57861032], [57861416, 57861575], [57865782, 57865947], [57871411, 57871608], [57871765, 57871885], [57872981, 57873168], [57876526, 57876670], [57876913, 57877053], [57877154, 57877266], [57881667, 57881822], [57883208, 57883407], [57883725, 57883894], [57887064, 57887161], [57888317, 57888412], [57889495, 57889746], [57889827, 57889917], [57890170, 57890278], [57891051, 57891165], [57891542, 57891703], [57896369, 57896565], [57897064, 57897154]]
ENST00000441246 [[57845034, 57845170], [57851445, 57851623], [57852519, 57852592], [57856913, 57857064], [57860569, 57860682], [57860812, 57861032], [57861416, 57861575], [57865782, 57865947], [57871411, 57871608], [57871765, 57871885], [57872981, 57873168], [57876526, 57876670], [57876913, 57877053], [57877154, 57877266], [57881667, 57881822], [57883208, 57883407], [57883725, 57883894], [57887064, 57887161], [57888317, 57888412], [57889495, 57889746], [57889827, 57889917], [57890170, 57890278], [57891051, 57891165], [57891542, 57891703], [57896369, 57896565], [57897064, 57897173]] [[57852521, 57852592], [57856913, 57857064], [57860569, 57860682], [57860812, 57861032], [57861416, 57861575], [57865782, 57865947], [57871411, 57871608], [57871765, 57871885], [57872981, 57873168], [57876526, 57876670], [57876913, 57877053], [57877154, 57877266], [57881667, 57881822], [57883208, 57883407], [57883725, 57883894], [57887064, 57887161], [57888317, 57888412], [57889495, 57889746], [57889827, 57889917], [57890170, 57890278], [57891051, 57891165], [57891542, 57891703], [57896369, 57896565], [57897064, 57897154]]
ENST00000433463 [[57845061, 57845170], [57851425, 57851623], [57852519, 57852592], [57856913, 57857072]] [[57852521, 57852592], [57856913, 57857072]]
ENST00000497845 [[57845069, 57845170], [57852519, 57852969]] None
ENST00000314595 [[57845108, 57845170], [57852519, 57852592], [57856913, 57857064], [57860569, 57860682], [57860812, 57861032], [57861416, 57861575], [57865782, 57865947], [57871411, 57871608], [57871765, 57871885], [57872981, 57873168], [57876526, 57876670], [57876913, 57877053], [57877154, 57877266], [57881667, 57881822], [57883208, 57883407], [57883725, 57883894], [57887064, 57887161], [57888317, 57888412], [57889495, 57889746], [57889827, 57889917], [57890170, 57890278], [57891051, 57891165], [57891542, 57891703], [57896369, 57896565], [57897064, 57897334]] [[57845151, 57845170], [57852519, 57852592], [57856913, 57857064], [57860569, 57860682], [57860812, 57861032], [57861416, 57861575], [57865782, 57865947], [57871411, 57871608], [57871765, 57871885], [57872981, 57873168], [57876526, 57876670], [57876913, 57877053], [57877154, 57877266], [57881667, 57881822], [57883208, 57883407], [57883725, 57883894], [57887064, 57887161], [57888317, 57888412], [57889495, 57889746], [57889827, 57889917], [57890170, 57890278], [57891051, 57891165], [57891542, 57891703], [57896369, 57896565], [57897064, 57897154]]
ENST00000478188 [[57875724, 57876670], [57876913, 57877053], [57877154, 57877266], [57881667, 57881822], [57883208, 57883407], [57883725, 57883894], [57887064, 57887161], [57888317, 57888412], [57889495, 57889746], [57889827, 57889917], [57890170, 57890278], [57891051, 57891165], [57891542, 57891703], [57896369, 57896565], [57897064, 57897324]] None
ENST00000510355 [[57876338, 57876366], [57876526, 57876670], [57876913, 57877053], [57877154, 57877266], [57881667, 57881824]] None
ENST00000464918 [[57889392, 57889746], [57889827, 57889917]] None
ENST00000484821 [[57889656, 57889917], [57890170, 57890278], [57891051, 57891128]] None
NM_001303268 [[57844805, 57845170], [57852519, 57852592], [57860569, 57860682], [57860812, 57861032], [57861416, 57861575], [57865782, 57865947], [57871411, 57871608], [57871765, 57871885], [57872981, 57873168], [57876526, 57876670], [57876913, 57877053], [57877154, 57877266], [57881667, 57881822], [57883208, 57883407], [57883725, 57883894], [57887064, 57887161], [57888317, 57888412], [57889495, 57889746], [57889827, 57889917], [57890170, 57890278], [57891051, 57891165], [57891542, 57891703], [57896369, 57896565], [57897064, 57897328]] [[57852574, 57852592], [57860569, 57860682], [57860812, 57861032], [57861416, 57861575], [57865782, 57865947], [57871411, 57871608], [57871765, 57871885], [57872981, 57873168], [57876526, 57876670], [57876913, 57877053], [57877154, 57877266], [57881667, 57881822], [57883208, 57883407], [57883725, 57883894], [57887064, 57887161], [57888317, 57888412], [57889495, 57889746], [57889827, 57889917], [57890170, 57890278], [57891051, 57891165], [57891542, 57891703], [57896369, 57896565], [57897064, 57897154]]
NM_000938 [[57844805, 57845170], [57852519, 57852592], [57856913, 57857064], [57860569, 57860682], [57860812, 57861032], [57861416, 57861575], [57865782, 57865947], [57871411, 57871608], [57871765, 57871885], [57872981, 57873168], [57876526, 57876670], [57876913, 57877053], [57877154, 57877266], [57881667, 57881822], [57883208, 57883407], [57883725, 57883894], [57887064, 57887161], [57888317, 57888412], [57889495, 57889746], [57889827, 57889917], [57890170, 57890278], [57891051, 57891165], [57891542, 57891703], [57896369, 57896565], [57897064, 57897328]] [[57845151, 57845170], [57852519, 57852592], [57856913, 57857064], [57860569, 57860682], [57860812, 57861032], [57861416, 57861575], [57865782, 57865947], [57871411, 57871608], [57871765, 57871885], [57872981, 57873168], [57876526, 57876670], [57876913, 57877053], [57877154, 57877266], [57881667, 57881822], [57883208, 57883407], [57883725, 57883894], [57887064, 57887161], [57888317, 57888412], [57889495, 57889746], [57889827, 57889917], [57890170, 57890278], [57891051, 57891165], [57891542, 57891703], [57896369, 57896565], [57897064, 57897154]]
NM_001303269 [[57844805, 57845170], [57851445, 57851623], [57852519, 57852592], [57856913, 57857064], [57860569, 57860682], [57860812, 57861032], [57861416, 57861575], [57865782, 57865947], [57871411, 57871608], [57871765, 57871885], [57872981, 57873168], [57876526, 57876670], [57876913, 57877053], [57877154, 57877266], [57881667, 57881822], [57883208, 57883407], [57883725, 57883894], [57887064, 57887161], [57888317, 57888412], [57889495, 57889746], [57889827, 57889917], [57890170, 57890278], [57891051, 57891165], [57891542, 57891703], [57896369, 57896565], [57897064, 57897328]] [[57852521, 57852592], [57856913, 57857064], [57860569, 57860682], [57860812, 57861032], [57861416, 57861575], [57865782, 57865947], [57871411, 57871608], [57871765, 57871885], [57872981, 57873168], [57876526, 57876670], [57876913, 57877053], [57877154, 57877266], [57881667, 57881822], [57883208, 57883407], [57883725, 57883894], [57887064, 57887161], [57888317, 57888412], [57889495, 57889746], [57889827, 57889917], [57890170, 57890278], [57891051, 57891165], [57891542, 57891703], [57896369, 57896565], [57897064, 57897154]]
Promoter
Chrom Start End Description
chr4 57843876 57843937 CAGE_peak_3_at_POLR2B_5end
chr4 57843941 57843952 CAGE_peak_4_at_POLR2B_5end
chr4 57845024 57845037 CAGE_peak_2_at_POLR2B_5end
chr4 57845043 57845079 CAGE_peak_1_at_POLR2B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I056652 56652118 56657466 1.97 [{'connected_gene': 'HOPX', 'score': 576.01}, {'connected_gene': 'LOC101928815', 'score': 550.77}, {'connected_gene': 'AASDH', 'score': 18.21}, {'connected_gene': 'SRP72', 'score': 15.45}, {'connected_gene': 'CEP135', 'score': 13.64}, {'connected_gene': 'POLR2B', 'score': 12.59}, {'connected_gene': 'SPINK2', 'score': 10.9}, {'connected_gene': 'ENSG00000251799', 'score': 10.89}, {'connected_gene': 'ENSG00000280285', 'score': 0.39}]
chr4 GH04I056975 56975800 56983285 2.28 [{'connected_gene': 'NOA1', 'score': 565.13}, {'connected_gene': 'POLR2B', 'score': 550.77}, {'connected_gene': 'ENSG00000269949', 'score': 21.36}, {'connected_gene': 'RNU6-998P', 'score': 10.66}, {'connected_gene': 'REST', 'score': 10.64}, {'connected_gene': 'AASDH', 'score': 10.61}]
chr4 GH04I057022 57022107 57024183 0.63 [{'connected_gene': 'NOA1', 'score': 8.64}, {'connected_gene': 'ENSG00000269949', 'score': 6.43}, {'connected_gene': 'RNU6-998P', 'score': 0.34}, {'connected_gene': 'POLR2B', 'score': 0.25}, {'connected_gene': 'UBE2CP3', 'score': 0.25}]
chr4 GH04I056995 56995065 56996199 0.38 [{'connected_gene': 'NOA1', 'score': 11.19}, {'connected_gene': 'RNU6-998P', 'score': 0.44}, {'connected_gene': 'POLR2B', 'score': 0.37}]
chr4 GH04I056799 56799363 56800904 1.05 [{'connected_gene': 'SPINK2', 'score': 12.92}, {'connected_gene': 'PAICS', 'score': 10.6}, {'connected_gene': 'PPAT', 'score': 10.6}, {'connected_gene': 'NOA1', 'score': 10.11}, {'connected_gene': 'POLR2B', 'score': 10.11}, {'connected_gene': 'SRP72', 'score': 9.91}, {'connected_gene': 'REST', 'score': 9.41}, {'connected_gene': 'ENSG00000269949', 'score': 4.49}, {'connected_gene': 'GC04P056807', 'score': 0.44}, {'connected_gene': 'LOC105377668', 'score': 0.44}]
chr4 GH04I056906 56906678 56911262 1.99 [{'connected_gene': 'REST', 'score': 550.77}, {'connected_gene': 'NOA1', 'score': 24.01}, {'connected_gene': 'POLR2B', 'score': 23.59}, {'connected_gene': 'AASDH', 'score': 18.18}, {'connected_gene': 'SRP72', 'score': 15.4}, {'connected_gene': 'CEP135', 'score': 13.63}, {'connected_gene': 'ENSG00000269949', 'score': 11.71}, {'connected_gene': 'SPINK2', 'score': 10.65}, {'connected_gene': 'ENSG00000251799', 'score': 10.64}, {'connected_gene': 'RNU6-998P', 'score': 9.76}, {'connected_gene': 'GC04P056945', 'score': 0.28}]
chr4 GH04I056874 56874291 56874634 0.78 [{'connected_gene': 'REST', 'score': 13.45}, {'connected_gene': 'SPINK2', 'score': 11.35}, {'connected_gene': 'ENSG00000251799', 'score': 11.34}, {'connected_gene': 'NOA1', 'score': 10.57}, {'connected_gene': 'POLR2B', 'score': 10.57}, {'connected_gene': 'HOPX', 'score': 10.33}, {'connected_gene': 'ENSG00000269949', 'score': 4.86}, {'connected_gene': 'PPAT', 'score': 3.19}, {'connected_gene': 'GC04P056899', 'score': 0.34}]
chr4 GH04I057100 57100721 57100826 0.4 [{'connected_gene': 'POLR2B', 'score': 9.91}, {'connected_gene': 'NOA1', 'score': 9.91}, {'connected_gene': 'IGFBP7-AS1', 'score': 0.44}, {'connected_gene': 'IGFBP7', 'score': 0.44}, {'connected_gene': 'UBE2CP3', 'score': 0.31}]
chr4 GH04I057101 57101132 57105850 1.2 [{'connected_gene': 'POLR2B', 'score': 9.91}, {'connected_gene': 'NOA1', 'score': 9.91}, {'connected_gene': 'IGFBP7-AS1', 'score': 9.48}, {'connected_gene': 'IGFBP7', 'score': 7.27}, {'connected_gene': 'UBE2CP3', 'score': 0.29}]
chr4 GH04I056700 56700708 56701844 0.75 [{'connected_gene': 'AASDH', 'score': 16.5}, {'connected_gene': 'SRP72', 'score': 15.43}, {'connected_gene': 'CEP135', 'score': 11.61}, {'connected_gene': 'POLR2B', 'score': 10.48}, {'connected_gene': 'HOPX', 'score': 6.74}, {'connected_gene': 'LOC105377667', 'score': 0.77}, {'connected_gene': 'LOC105377666', 'score': 0.37}]
chr4 GH04I057090 57090001 57090844 0.78 [{'connected_gene': 'RNU6-998P', 'score': 9.62}, {'connected_gene': 'POLR2B', 'score': 9.61}, {'connected_gene': 'NOA1', 'score': 9.61}, {'connected_gene': 'IGFBP7', 'score': 5.11}, {'connected_gene': 'IGFBP7-AS1', 'score': 0.37}, {'connected_gene': 'UBE2CP3', 'score': 0.37}]
chr4 GH04I057093 57093986 57096846 0.94 [{'connected_gene': 'RNU6-998P', 'score': 10.34}, {'connected_gene': 'POLR2B', 'score': 9.6}, {'connected_gene': 'NOA1', 'score': 9.6}, {'connected_gene': 'IGFBP7-AS1', 'score': 7.41}, {'connected_gene': 'IGFBP7', 'score': 0.39}, {'connected_gene': 'UBE2CP3', 'score': 0.34}]
chr4 GH04I057091 57091072 57092087 0.2 [{'connected_gene': 'RNU6-998P', 'score': 9.62}, {'connected_gene': 'POLR2B', 'score': 9.61}, {'connected_gene': 'NOA1', 'score': 9.61}, {'connected_gene': 'IGFBP7-AS1', 'score': 0.37}, {'connected_gene': 'IGFBP7', 'score': 0.37}, {'connected_gene': 'UBE2CP3', 'score': 0.37}]
chr4 GH04I057097 57097799 57100431 0.94 [{'connected_gene': 'RNU6-998P', 'score': 10.33}, {'connected_gene': 'POLR2B', 'score': 9.91}, {'connected_gene': 'NOA1', 'score': 9.91}, {'connected_gene': 'IGFBP7-AS1', 'score': 0.39}, {'connected_gene': 'IGFBP7', 'score': 0.39}, {'connected_gene': 'UBE2CP3', 'score': 0.31}]
chr4 GH04I056433 56433450 56438274 2.1 [{'connected_gene': 'PAICS', 'score': 550.77}, {'connected_gene': 'GC04P056437', 'score': 550.77}, {'connected_gene': 'GC04P056436', 'score': 550.77}, {'connected_gene': 'PPAT', 'score': 550.77}, {'connected_gene': 'SRP72', 'score': 50.26}, {'connected_gene': 'CEP135', 'score': 35.93}, {'connected_gene': 'AASDH', 'score': 33.8}, {'connected_gene': 'POLR2B', 'score': 32.68}, {'connected_gene': 'RN7SKP30', 'score': 31.62}, {'connected_gene': 'ENSG00000269921', 'score': 14.66}, {'connected_gene': 'ARL9', 'score': 7.67}]
chr4 GH04I057019 57019937 57021942 0.69 [{'connected_gene': 'ENSG00000269949', 'score': 21.92}, {'connected_gene': 'NOA1', 'score': 11.18}, {'connected_gene': 'RNU6-998P', 'score': 0.37}, {'connected_gene': 'POLR2B', 'score': 0.26}, {'connected_gene': 'UBE2CP3', 'score': 0.23}]
chr4 GH04I056870 56870379 56872271 0.69 [{'connected_gene': 'ENSG00000269949', 'score': 13.7}, {'connected_gene': 'REST', 'score': 11.8}, {'connected_gene': 'SPINK2', 'score': 11.37}, {'connected_gene': 'ENSG00000251799', 'score': 11.35}, {'connected_gene': 'POLR2B', 'score': 10.49}, {'connected_gene': 'NOA1', 'score': 10.49}, {'connected_gene': 'GC04P056899', 'score': 0.31}]
chr4 GH04I056936 56936855 56938114 0.49 [{'connected_gene': 'ENSG00000269949', 'score': 25.45}, {'connected_gene': 'POLR2B', 'score': 11.85}, {'connected_gene': 'NOA1', 'score': 11.85}, {'connected_gene': 'REST', 'score': 10.97}, {'connected_gene': 'GC04P056945', 'score': 0.44}]
chr4 GH04I057037 57037249 57038836 0.63 [{'connected_gene': 'ENSG00000269949', 'score': 21.76}, {'connected_gene': 'RNU6-998P', 'score': 11.65}, {'connected_gene': 'NOA1', 'score': 11.58}, {'connected_gene': 'POLR2B', 'score': 11.56}, {'connected_gene': 'UBE2CP3', 'score': 0.29}, {'connected_gene': 'IGFBP7', 'score': 0.19}]
chr4 GH04I057034 57034271 57036133 0.38 [{'connected_gene': 'ENSG00000269949', 'score': 22.25}, {'connected_gene': 'RNU6-998P', 'score': 11.66}, {'connected_gene': 'POLR2B', 'score': 11.58}, {'connected_gene': 'NOA1', 'score': 11.58}, {'connected_gene': 'UBE2CP3', 'score': 0.28}, {'connected_gene': 'IGFBP7', 'score': 0.18}]

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