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
ENST00000420220 [[162336697, 162336722], [162336841, 162336994], [162351680, 162352008], [162352971, 162353167]] [[162351691, 162352008], [162352971, 162353167]]
ENST00000426197 [[162348630, 162348821], [162351680, 162352008], [162352971, 162353501]] [[162348703, 162348821], [162351680, 162352008], [162352971, 162353473]]
ENST00000458626 [[162351519, 162352008], [162352971, 162356600]] [[162351691, 162352008], [162352971, 162353473]]
NM_001135240 [[162348695, 162348821], [162351680, 162352008], [162352971, 162353501]] [[162348703, 162348821], [162351680, 162352008], [162352971, 162353473]]
NM_001085375 [[162351519, 162352008], [162352971, 162356608]] [[162351691, 162352008], [162352971, 162353473]]
Promoter
Chrom Start End Description
chr1 162336686 162336732 CAGE_peak_1_at_C1orf226_5end,CAGE_peak_3_at_NOS1AP_5end
chr1 162351503 162351523 CAGE_peak_2_at_C1orf226_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I162068 162068510 162071396 1.91 [{'connected_gene': 'NOS1AP', 'score': 550.77}, {'connected_gene': 'C1orf226', 'score': 7.85}, {'connected_gene': 'GC01M162031', 'score': 0.39}, {'connected_gene': 'GC01P162033', 'score': 0.28}]
chr1 GH01I162065 162065551 162065700 0.56 [{'connected_gene': 'DEDD', 'score': 13.22}, {'connected_gene': 'USP21', 'score': 13.02}, {'connected_gene': 'LOC148430', 'score': 11.39}, {'connected_gene': 'B4GALT3', 'score': 11.25}, {'connected_gene': 'SH2D1B', 'score': 10.34}, {'connected_gene': 'DUSP12', 'score': 10.23}, {'connected_gene': 'MIR556', 'score': 10.16}, {'connected_gene': 'SPATA46', 'score': 9.29}, {'connected_gene': 'C1orf226', 'score': 9.29}, {'connected_gene': 'NOS1AP', 'score': 0.77}, {'connected_gene': 'GC01M162031', 'score': 0.37}, {'connected_gene': 'ENSG00000227818', 'score': 0.31}, {'connected_gene': 'GC01P162033', 'score': 0.29}]
chr1 GH01I162028 162028667 162029039 0.49 [{'connected_gene': 'MIR556', 'score': 9.54}, {'connected_gene': 'C1orf226', 'score': 9.07}, {'connected_gene': 'SPATA46', 'score': 9.02}, {'connected_gene': 'ATF6', 'score': 1.68}, {'connected_gene': 'OLFML2B', 'score': 0.77}, {'connected_gene': 'GC01P162033', 'score': 0.77}]
chr1 GH01I162026 162026861 162027188 0.22 [{'connected_gene': 'MIR556', 'score': 9.54}, {'connected_gene': 'C1orf226', 'score': 9.07}, {'connected_gene': 'SPATA46', 'score': 9.02}, {'connected_gene': 'ATF6', 'score': 5.89}, {'connected_gene': 'OLFML2B', 'score': 0.77}, {'connected_gene': 'GC01P162033', 'score': 0.44}]
chr1 GH01I162159 162159611 162159760 1 [{'connected_gene': 'PPOX', 'score': 23.02}, {'connected_gene': 'C1orf226', 'score': 9.7}, {'connected_gene': 'SPATA46', 'score': 9.7}, {'connected_gene': 'MIR4654', 'score': 0.77}, {'connected_gene': 'LOC105371475', 'score': 0.37}, {'connected_gene': 'NOS1AP', 'score': 0.17}]
chr1 GH01I162283 162283711 162286005 0.74 [{'connected_gene': 'C1orf226', 'score': 8.42}, {'connected_gene': 'NOS1AP', 'score': 7.55}, {'connected_gene': 'ENSG00000227094', 'score': 0.29}, {'connected_gene': 'LOC105371475', 'score': 0.14}]
chr1 GH01I162091 162091102 162093274 0.92 [{'connected_gene': 'C1orf226', 'score': 9.9}, {'connected_gene': 'GC01M162031', 'score': 0.39}, {'connected_gene': 'NOS1AP', 'score': 0.34}, {'connected_gene': 'GC01P162033', 'score': 0.22}, {'connected_gene': 'MIR4654', 'score': 0.21}]
chr1 GH01I162054 162054751 162055648 0.59 [{'connected_gene': 'C1orf226', 'score': 5.14}, {'connected_gene': 'NOS1AP', 'score': 0.39}, {'connected_gene': 'ENSG00000227818', 'score': 0.37}, {'connected_gene': 'GC01P162033', 'score': 0.34}, {'connected_gene': 'GC01M162031', 'score': 0.31}]
chr1 GH01I162326 162326915 162328400 0.38 [{'connected_gene': 'C1orf226', 'score': 10.97}, {'connected_gene': 'SPATA46', 'score': 10.94}, {'connected_gene': 'SH2D1B', 'score': 10.74}, {'connected_gene': 'ENSG00000227094', 'score': 0.44}, {'connected_gene': 'RNA5SP61', 'score': 0.39}, {'connected_gene': 'NOS1AP', 'score': 0.07}]
chr1 GH01I162328 162328601 162328800 0.38 [{'connected_gene': 'C1orf226', 'score': 10.97}, {'connected_gene': 'SPATA46', 'score': 10.94}, {'connected_gene': 'SH2D1B', 'score': 10.74}, {'connected_gene': 'RNA5SP61', 'score': 0.44}, {'connected_gene': 'ENSG00000227094', 'score': 0.39}, {'connected_gene': 'NOS1AP', 'score': 0.07}]
chr1 GH01I162206 162206256 162208321 1.21 [{'connected_gene': 'C1orf226', 'score': 14.01}, {'connected_gene': 'SPATA46', 'score': 9.27}, {'connected_gene': 'LOC105371475', 'score': 0.29}, {'connected_gene': 'ENSG00000227094', 'score': 0.14}, {'connected_gene': 'NOS1AP', 'score': 0.12}]
chr1 GH01I162221 162221988 162225818 0.38 [{'connected_gene': 'C1orf226', 'score': 15.05}, {'connected_gene': 'SPATA46', 'score': 9.82}, {'connected_gene': 'LOC105371475', 'score': 0.25}, {'connected_gene': 'ENSG00000227094', 'score': 0.16}, {'connected_gene': 'NOS1AP', 'score': 0.1}]
chr1 GH01I162165 162165251 162166449 0.72 [{'connected_gene': 'C1orf226', 'score': 9.71}, {'connected_gene': 'SPATA46', 'score': 9.7}, {'connected_gene': 'LOC105371475', 'score': 0.44}, {'connected_gene': 'MIR4654', 'score': 0.44}, {'connected_gene': 'NOS1AP', 'score': 0.15}]
chr1 GH01I162162 162162832 162163146 0.2 [{'connected_gene': 'C1orf226', 'score': 9.71}, {'connected_gene': 'SPATA46', 'score': 9.7}, {'connected_gene': 'MIR4654', 'score': 0.44}, {'connected_gene': 'LOC105371475', 'score': 0.39}, {'connected_gene': 'NOS1AP', 'score': 0.16}]
chr1 GH01I162143 162143697 162146697 1.06 [{'connected_gene': 'C1orf226', 'score': 16.19}, {'connected_gene': 'SPATA46', 'score': 9.97}, {'connected_gene': 'MIR4654', 'score': 0.39}, {'connected_gene': 'LOC105371475', 'score': 0.31}, {'connected_gene': 'GC01M162031', 'score': 0.21}, {'connected_gene': 'NOS1AP', 'score': 0.18}, {'connected_gene': 'GC01P162033', 'score': 0.14}]
chr1 GH01I162161 162161491 162162746 0.38 [{'connected_gene': 'C1orf226', 'score': 14.99}, {'connected_gene': 'SPATA46', 'score': 9.7}, {'connected_gene': 'MIR4654', 'score': 0.44}, {'connected_gene': 'LOC105371475', 'score': 0.39}, {'connected_gene': 'NOS1AP', 'score': 0.16}]
chr1 GH01I162147 162147409 162148484 0.72 [{'connected_gene': 'C1orf226', 'score': 16.12}, {'connected_gene': 'SPATA46', 'score': 9.97}, {'connected_gene': 'MIR4654', 'score': 0.44}, {'connected_gene': 'LOC105371475', 'score': 0.31}, {'connected_gene': 'GC01M162031', 'score': 0.2}, {'connected_gene': 'NOS1AP', 'score': 0.18}, {'connected_gene': 'GC01P162033', 'score': 0.14}]
chr1 GH01I162163 162163359 162164655 0.46 [{'connected_gene': 'C1orf226', 'score': 9.71}, {'connected_gene': 'SPATA46', 'score': 9.7}, {'connected_gene': 'MIR4654', 'score': 0.44}, {'connected_gene': 'LOC105371475', 'score': 0.39}, {'connected_gene': 'NOS1AP', 'score': 0.16}]
chr1 GH01I162131 162131094 162133054 1.08 [{'connected_gene': 'C1orf226', 'score': 16.69}, {'connected_gene': 'OLFML2B', 'score': 10.47}, {'connected_gene': 'SPATA46', 'score': 9.97}, {'connected_gene': 'MIR4654', 'score': 0.31}, {'connected_gene': 'LOC105371475', 'score': 0.26}, {'connected_gene': 'GC01M162031', 'score': 0.23}, {'connected_gene': 'NOS1AP', 'score': 0.21}, {'connected_gene': 'GC01P162033', 'score': 0.15}]
chr1 GH01I162248 162248537 162249587 0.56 [{'connected_gene': 'C1orf226', 'score': 14.17}, {'connected_gene': 'ENSG00000227094', 'score': 11.05}, {'connected_gene': 'SH2D1B', 'score': 9.79}, {'connected_gene': 'SPATA46', 'score': 9.66}, {'connected_gene': 'LOC105371475', 'score': 0.19}, {'connected_gene': 'NOS1AP', 'score': 0.1}]
chr1 GH01I162380 162380078 162384149 1.55 [{'connected_gene': 'C1orf226', 'score': 568.1}, {'connected_gene': 'SH2D1B', 'score': 10.99}, {'connected_gene': 'UHMK1', 'score': 5.6}, {'connected_gene': 'RGS4', 'score': 5.05}, {'connected_gene': 'SPATA46', 'score': 0.44}, {'connected_gene': 'ENSG00000254706', 'score': 0.37}]
chr1 GH01I162734 162734908 162737137 0.62 [{'connected_gene': 'C1orf226', 'score': 9.85}, {'connected_gene': 'RN7SL861P', 'score': 0.26}, {'connected_gene': 'DDR2', 'score': 0.15}]
chr1 GH01I162209 162209881 162211952 0.51 [{'connected_gene': 'C1orf226', 'score': 5.0}, {'connected_gene': 'LOC105371475', 'score': 0.28}, {'connected_gene': 'ENSG00000227094', 'score': 0.14}, {'connected_gene': 'NOS1AP', 'score': 0.11}]
chr1 GH01I162184 162184595 162185821 0.67 [{'connected_gene': 'C1orf226', 'score': 5.19}, {'connected_gene': 'LOC105371475', 'score': 0.39}, {'connected_gene': 'NOS1AP', 'score': 0.13}, {'connected_gene': 'ENSG00000227094', 'score': 0.12}]
chr1 GH01I162191 162191019 162192260 0.69 [{'connected_gene': 'C1orf226', 'score': 5.57}, {'connected_gene': 'LOC105371475', 'score': 0.37}, {'connected_gene': 'ENSG00000227094', 'score': 0.13}, {'connected_gene': 'NOS1AP', 'score': 0.13}]
chr1 GH01I162234 162234831 162236260 1.07 [{'connected_gene': 'C1orf226', 'score': 5.16}, {'connected_gene': 'LOC105371475', 'score': 0.21}, {'connected_gene': 'ENSG00000227094', 'score': 0.18}, {'connected_gene': 'NOS1AP', 'score': 0.1}]
chr1 GH01I162202 162202637 162203539 0.2 [{'connected_gene': 'C1orf226', 'score': 5.27}, {'connected_gene': 'LOC105371475', 'score': 0.31}, {'connected_gene': 'ENSG00000227094', 'score': 0.14}, {'connected_gene': 'NOS1AP', 'score': 0.12}]
chr1 GH01I162215 162215038 162216620 0.76 [{'connected_gene': 'C1orf226', 'score': 5.3}, {'connected_gene': 'LOC105371475', 'score': 0.26}, {'connected_gene': 'ENSG00000227094', 'score': 0.15}, {'connected_gene': 'NOS1AP', 'score': 0.11}]
chr1 GH01I162196 162196751 162197920 0.78 [{'connected_gene': 'C1orf226', 'score': 5.21}, {'connected_gene': 'LOC105371475', 'score': 0.34}, {'connected_gene': 'NOS1AP', 'score': 0.13}, {'connected_gene': 'ENSG00000227094', 'score': 0.13}]
chr1 GH01I162178 162178284 162179700 0.31 [{'connected_gene': 'C1orf226', 'score': 5.14}, {'connected_gene': 'LOC105371475', 'score': 0.77}, {'connected_gene': 'NOS1AP', 'score': 0.14}, {'connected_gene': 'ENSG00000227094', 'score': 0.12}]
chr1 GH01I162212 162212608 162214468 1.1 [{'connected_gene': 'C1orf226', 'score': 5.26}, {'connected_gene': 'LOC105371475', 'score': 0.28}, {'connected_gene': 'ENSG00000227094', 'score': 0.15}, {'connected_gene': 'NOS1AP', 'score': 0.11}]
chr1 GH01I162140 162140018 162143404 0.92 [{'connected_gene': 'C1orf226', 'score': 6.94}, {'connected_gene': 'MIR4654', 'score': 0.37}, {'connected_gene': 'LOC105371475', 'score': 0.29}, {'connected_gene': 'GC01M162031', 'score': 0.21}, {'connected_gene': 'NOS1AP', 'score': 0.19}, {'connected_gene': 'GC01P162033', 'score': 0.14}]
chr1 GH01I162136 162136345 162138045 1.22 [{'connected_gene': 'C1orf226', 'score': 6.96}, {'connected_gene': 'MIR4654', 'score': 0.37}, {'connected_gene': 'LOC105371475', 'score': 0.28}, {'connected_gene': 'GC01M162031', 'score': 0.22}, {'connected_gene': 'NOS1AP', 'score': 0.2}, {'connected_gene': 'GC01P162033', 'score': 0.15}]
chr1 GH01I162139 162139391 162139678 0.58 [{'connected_gene': 'C1orf226', 'score': 7.02}, {'connected_gene': 'MIR4654', 'score': 0.37}, {'connected_gene': 'LOC105371475', 'score': 0.28}, {'connected_gene': 'GC01M162031', 'score': 0.22}, {'connected_gene': 'NOS1AP', 'score': 0.2}, {'connected_gene': 'GC01P162033', 'score': 0.14}]
chr1 GH01I162151 162151703 162153230 1.19 [{'connected_gene': 'USP21', 'score': 20.8}, {'connected_gene': 'PPOX', 'score': 18.85}, {'connected_gene': 'C1orf226', 'score': 17.24}, {'connected_gene': 'B4GALT3', 'score': 13.09}, {'connected_gene': 'ATF6', 'score': 12.39}, {'connected_gene': 'DUSP12', 'score': 12.13}, {'connected_gene': 'LOC148430', 'score': 11.55}, {'connected_gene': 'SPATA46', 'score': 9.97}, {'connected_gene': 'MIR4654', 'score': 0.77}, {'connected_gene': 'LOC105371475', 'score': 0.34}, {'connected_gene': 'GC01M162031', 'score': 0.19}, {'connected_gene': 'NOS1AP', 'score': 0.18}]
chr1 GH01I162371 162371211 162374907 0.96 [{'connected_gene': 'SPATA46', 'score': 12.75}, {'connected_gene': 'C1orf226', 'score': 7.2}, {'connected_gene': 'NOS1AP', 'score': 4.29}, {'connected_gene': 'ENSG00000254706', 'score': 0.44}]
chr1 GH01I162423 162423151 162423300 0.66 [{'connected_gene': 'SPATA46', 'score': 10.48}, {'connected_gene': 'C1orf226', 'score': 10.45}, {'connected_gene': 'SLAMF6P1', 'score': 6.27}, {'connected_gene': 'LOC105373471', 'score': 0.77}]
chr1 GH01I162376 162376817 162376876 0.61 [{'connected_gene': 'SPATA46', 'score': 550.77}, {'connected_gene': 'C1orf226', 'score': 0.44}, {'connected_gene': 'ENSG00000254706', 'score': 0.39}]
chr1 GH01I162570 162570191 162570630 0.27 [{'connected_gene': 'HSD17B7', 'score': 3.05}, {'connected_gene': 'C1orf226', 'score': 2.61}, {'connected_gene': 'UHMK1', 'score': 1.85}, {'connected_gene': 'UAP1', 'score': 1.77}, {'connected_gene': 'ENSG00000272574', 'score': 0.34}]
chr1 GH01I162411 162411613 162412700 0.93 [{'connected_gene': 'SH2D1B', 'score': 550.77}, {'connected_gene': 'SPATA46', 'score': 10.47}, {'connected_gene': 'C1orf226', 'score': 10.44}, {'connected_gene': 'SLAMF6P1', 'score': 6.09}, {'connected_gene': 'LOC105373471', 'score': 0.44}]
chr1 GH01I162421 162421181 162422540 0.83 [{'connected_gene': 'LOC105373471', 'score': 550.77}, {'connected_gene': 'SPATA46', 'score': 10.5}, {'connected_gene': 'C1orf226', 'score': 10.46}, {'connected_gene': 'SLAMF6P1', 'score': 9.07}, {'connected_gene': 'UHMK1', 'score': 8.27}]
chr1 GH01I162418 162418883 162420477 0.83 [{'connected_gene': 'LOC105373471', 'score': 550.77}, {'connected_gene': 'UHMK1', 'score': 10.75}, {'connected_gene': 'SPATA46', 'score': 10.5}, {'connected_gene': 'C1orf226', 'score': 10.46}, {'connected_gene': 'SLAMF6P1', 'score': 8.71}, {'connected_gene': 'SH2D1B', 'score': 0.44}]
chr1 GH01I162174 162174384 162178112 0.52 [{'connected_gene': 'LOC105371475', 'score': 550.77}, {'connected_gene': 'C1orf226', 'score': 5.36}, {'connected_gene': 'NOS1AP', 'score': 0.14}, {'connected_gene': 'ENSG00000227094', 'score': 0.11}]
chr1 GH01I162404 162404580 162405580 0.56 [{'connected_gene': 'SLAMF6P1', 'score': 9.03}, {'connected_gene': 'C1orf226', 'score': 7.44}, {'connected_gene': 'SH2D1B', 'score': 0.44}, {'connected_gene': 'SPATA46', 'score': 0.31}]
chr1 GH01I162156 162156918 162158166 0.38 [{'connected_gene': 'MIR4654', 'score': 550.77}, {'connected_gene': 'C1orf226', 'score': 7.13}, {'connected_gene': 'LOC105371475', 'score': 0.37}, {'connected_gene': 'NOS1AP', 'score': 0.17}]
chr1 GH01I162246 162246433 162248376 1.12 [{'connected_gene': 'ENSG00000227094', 'score': 11.03}, {'connected_gene': 'SH2D1B', 'score': 9.79}, {'connected_gene': 'SPATA46', 'score': 9.66}, {'connected_gene': 'C1orf226', 'score': 9.66}, {'connected_gene': 'NOS1AP', 'score': 1.53}, {'connected_gene': 'LOC105371475', 'score': 0.19}]
chr1 GH01I162249 162249912 162251504 0.63 [{'connected_gene': 'ENSG00000227094', 'score': 11.05}, {'connected_gene': 'SH2D1B', 'score': 9.79}, {'connected_gene': 'SPATA46', 'score': 9.66}, {'connected_gene': 'C1orf226', 'score': 9.66}, {'connected_gene': 'LOC105371475', 'score': 0.18}, {'connected_gene': 'NOS1AP', 'score': 0.09}]

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