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
ENST00000256689 [[46751971, 46754992], [46756066, 46756164], [46756276, 46756421], [46756803, 46756928], [46757508, 46757609], [46757706, 46757786], [46758171, 46758339], [46758426, 46758485], [46758889, 46758972], [46760646, 46760728], [46760858, 46760951], [46761049, 46761123], [46764294, 46764410], [46764558, 46764640], [46764960, 46765162], [46766291, 46766650]] [[46754893, 46754992], [46756066, 46756164], [46756276, 46756421], [46756803, 46756928], [46757508, 46757609], [46757706, 46757786], [46758171, 46758339], [46758426, 46758485], [46758889, 46758972], [46760646, 46760728], [46760858, 46760951], [46761049, 46761123], [46764294, 46764410], [46764558, 46764640], [46764960, 46765076]]
ENST00000549258 [[46752263, 46754992], [46756066, 46756164], [46756276, 46756421], [46756803, 46756928], [46757508, 46757609], [46757706, 46757786], [46758171, 46758339], [46758426, 46758485], [46758889, 46758972], [46760646, 46760728], [46760858, 46760951], [46761049, 46761123], [46764558, 46764640], [46764960, 46765162], [46766291, 46766554]] [[46761054, 46761123], [46764558, 46764640], [46764960, 46765076]]
ENST00000551374 [[46753167, 46754992], [46756066, 46756164], [46756276, 46756421], [46756803, 46756928], [46757508, 46757609], [46757706, 46757786], [46758171, 46758339], [46758426, 46758485], [46758889, 46759090]] [[46754893, 46754992], [46756066, 46756164], [46756276, 46756421], [46756803, 46756928], [46757508, 46757609], [46757706, 46757786], [46758171, 46758339], [46758426, 46758485], [46758889, 46759049]]
ENST00000552703 [[46754742, 46754992], [46756066, 46756344]] None
ENST00000546520 [[46754900, 46754992], [46756066, 46756164], [46756276, 46756687]] None
ENST00000548785 [[46755635, 46756164], [46756276, 46756325]] None
ENST00000548111 [[46756072, 46756164], [46756276, 46756421], [46757508, 46757609], [46757706, 46757786], [46758171, 46758336]] None
ENST00000548236 [[46756107, 46756164], [46756276, 46756421], [46756803, 46756928], [46757508, 46757609], [46757706, 46757786], [46758171, 46758339], [46758426, 46758615]] None
ENST00000552414 [[46756897, 46756928], [46757508, 46757609], [46757706, 46757786], [46758171, 46758525]] None
ENST00000548870 [[46758224, 46758339], [46758426, 46758485], [46758889, 46758972], [46760646, 46760728], [46760858, 46760951], [46761049, 46761193]] None
ENST00000547252 [[46758424, 46758485], [46758889, 46758972], [46760646, 46760728], [46760858, 46760951], [46761049, 46761123], [46764294, 46764410], [46764558, 46764640], [46764960, 46765216]] None
ENST00000551405 [[46764294, 46764410], [46764558, 46764640], [46764960, 46765162], [46766103, 46766229]] None
ENST00000553252 [[46764581, 46765162], [46766291, 46766556]] None
NM_018976 [[46751970, 46754992], [46756066, 46756164], [46756276, 46756421], [46756803, 46756928], [46757508, 46757609], [46757706, 46757786], [46758171, 46758339], [46758426, 46758485], [46758889, 46758972], [46760646, 46760728], [46760858, 46760951], [46761049, 46761123], [46764294, 46764410], [46764558, 46764640], [46764960, 46765162], [46766291, 46766645]] [[46754893, 46754992], [46756066, 46756164], [46756276, 46756421], [46756803, 46756928], [46757508, 46757609], [46757706, 46757786], [46758171, 46758339], [46758426, 46758485], [46758889, 46758972], [46760646, 46760728], [46760858, 46760951], [46761049, 46761123], [46764294, 46764410], [46764558, 46764640], [46764960, 46765076]]
NM_001307936 [[46751970, 46754992], [46756066, 46756164], [46756276, 46756421], [46756803, 46756928], [46757508, 46757609], [46757706, 46757786], [46758171, 46758339], [46758426, 46758485], [46758889, 46758972], [46760646, 46760728], [46760858, 46760951], [46761049, 46761123], [46764558, 46764640], [46764960, 46765162], [46766291, 46766645]] [[46754893, 46754992], [46756066, 46756164], [46756276, 46756421], [46756803, 46756928], [46757508, 46757609], [46757706, 46757786], [46758171, 46758339], [46758426, 46758485], [46758889, 46758972], [46760646, 46760728], [46760858, 46760951], [46761049, 46761123], [46764558, 46764572]]
Promoter
Chrom Start End Description
chr12 46753271 46753283 CAGE_peak_18_at_SLC38A2_5end
chr12 46754578 46754630 CAGE_peak_7_at_SLC38A2_5end
chr12 46756576 46756583 CAGE_peak_81_at_SLC38A2_5end
chr12 46758915 46758937 CAGE_peak_13_at_SLC38A2_5end
chr12 46765044 46765060 CAGE_peak_6_at_SLC38A2_5end
chr12 46765090 46765108 CAGE_peak_4_at_SLC38A2_5end
chr12 46765120 46765181 CAGE_peak_3_at_SLC38A2_5end
chr12 46765239 46765250 CAGE_peak_9_at_SLC38A2_5end
chr12 46766521 46766537 CAGE_peak_2_at_SLC38A2_5end
chr12 46766547 46766567 CAGE_peak_1_at_SLC38A2_5end
chr12 46766577 46766587 CAGE_peak_5_at_SLC38A2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I045983 45983258 45993047 2.81 [{'connected_gene': 'SCAF11', 'score': 561.06}, {'connected_gene': 'LINC00938', 'score': 18.73}, {'connected_gene': 'SLC38A4', 'score': 6.15}, {'connected_gene': 'SLC38A2', 'score': 1.57}, {'connected_gene': 'GC12P045991', 'score': 0.77}, {'connected_gene': 'GC12M045894', 'score': 0.16}]
chr12 GH12I046158 46158053 46162743 1.31 [{'connected_gene': 'SLC38A1', 'score': 15.79}, {'connected_gene': 'SLC38A2', 'score': 11.12}, {'connected_gene': 'ARID2', 'score': 10.94}, {'connected_gene': 'SLC38A4', 'score': 5.75}, {'connected_gene': 'GC12M046187', 'score': 0.31}, {'connected_gene': 'GC12P046111', 'score': 0.25}]
chr12 GH12I046202 46202477 46204575 0.31 [{'connected_gene': 'SLC38A1', 'score': 11.99}, {'connected_gene': 'SLC38A2', 'score': 10.76}, {'connected_gene': 'GC12M046187', 'score': 0.37}, {'connected_gene': 'ENSG00000274591', 'score': 0.28}, {'connected_gene': 'GC12P046111', 'score': 0.16}]
chr12 GH12I046149 46149066 46149393 0.38 [{'connected_gene': 'SLC38A1', 'score': 10.52}, {'connected_gene': 'SLC38A2', 'score': 10.31}, {'connected_gene': 'GC12P046111', 'score': 0.28}, {'connected_gene': 'GC12M046187', 'score': 0.28}]
chr12 GH12I046206 46206224 46223651 1.74 [{'connected_gene': 'SLC38A1', 'score': 22.88}, {'connected_gene': 'LINC00938', 'score': 13.97}, {'connected_gene': 'SLC38A2', 'score': 10.76}, {'connected_gene': 'ARID2', 'score': 8.88}, {'connected_gene': 'ENSG00000257261', 'score': 4.3}, {'connected_gene': 'SCAF11', 'score': 3.9}, {'connected_gene': 'ENSG00000274591', 'score': 0.34}, {'connected_gene': 'GC12M046187', 'score': 0.31}]
chr12 GH12I046263 46263030 46271539 2.53 [{'connected_gene': 'SLC38A1', 'score': 550.77}, {'connected_gene': 'LOC105378248', 'score': 550.77}, {'connected_gene': 'ARID2', 'score': 73.0}, {'connected_gene': 'KNOP1P2', 'score': 63.57}, {'connected_gene': 'SCAF11', 'score': 50.46}, {'connected_gene': 'LOC102723757', 'score': 35.23}, {'connected_gene': 'ENSG00000257261', 'score': 20.45}, {'connected_gene': 'LINC00938', 'score': 13.95}, {'connected_gene': 'SLC38A2', 'score': 10.68}, {'connected_gene': 'ENSG00000274591', 'score': 0.31}]
chr12 GH12I046361 46361370 46362814 0.57 [{'connected_gene': 'SLC38A1', 'score': 10.79}, {'connected_gene': 'ENSG00000257261', 'score': 6.5}, {'connected_gene': 'GC12P046358', 'score': 0.77}, {'connected_gene': 'LOC102723757', 'score': 0.44}, {'connected_gene': 'SLC38A2', 'score': 0.39}]
chr12 GH12I046360 46360998 46361227 0.9 [{'connected_gene': 'SLC38A1', 'score': 10.79}, {'connected_gene': 'GC12P046358', 'score': 0.77}, {'connected_gene': 'LOC102723757', 'score': 0.39}, {'connected_gene': 'SLC38A2', 'score': 0.39}]
chr12 GH12I046255 46255753 46257480 1.04 [{'connected_gene': 'SLC38A2', 'score': 10.66}, {'connected_gene': 'ENSG00000257261', 'score': 4.92}, {'connected_gene': 'SLC38A1', 'score': 0.39}, {'connected_gene': 'LOC105378248', 'score': 0.39}, {'connected_gene': 'ENSG00000274591', 'score': 0.37}]
chr12 GH12I046260 46259522 46262294 1.29 [{'connected_gene': 'SLC38A2', 'score': 10.67}, {'connected_gene': 'ENSG00000257261', 'score': 5.02}, {'connected_gene': 'SLC38A1', 'score': 0.44}, {'connected_gene': 'LOC105378248', 'score': 0.44}, {'connected_gene': 'ENSG00000274591', 'score': 0.34}]
chr12 GH12I046482 46482553 46484833 1.33 [{'connected_gene': 'SLC38A2', 'score': 11.27}, {'connected_gene': 'SLC38A1', 'score': 9.31}, {'connected_gene': 'ENSG00000257261', 'score': 6.44}, {'connected_gene': 'ENSG00000272369', 'score': 0.23}, {'connected_gene': 'PIR40337', 'score': 0.18}, {'connected_gene': 'LOC100288798', 'score': 0.15}]
chr12 GH12I046153 46153688 46155007 1.05 [{'connected_gene': 'SLC38A2', 'score': 11.12}, {'connected_gene': 'SLC38A1', 'score': 10.96}, {'connected_gene': 'GC12M046187', 'score': 0.29}, {'connected_gene': 'GC12P046111', 'score': 0.26}]
chr12 GH12I046351 46351727 46353214 0.38 [{'connected_gene': 'SLC38A2', 'score': 11.82}, {'connected_gene': 'SLC38A1', 'score': 10.37}, {'connected_gene': 'GC12P046357', 'score': 0.77}, {'connected_gene': 'GC12M046276', 'score': 0.44}]
chr12 GH12I046500 46500893 46501076 0.49 [{'connected_gene': 'SLC38A2', 'score': 11.13}, {'connected_gene': 'SLC38A4', 'score': 1.36}, {'connected_gene': 'ENSG00000272369', 'score': 0.28}, {'connected_gene': 'PIR40337', 'score': 0.15}, {'connected_gene': 'LOC100288798', 'score': 0.13}, {'connected_gene': 'ENSG00000257261', 'score': 0.13}]
chr12 GH12I046571 46571642 46574641 0.43 [{'connected_gene': 'SLC38A2', 'score': 11.1}, {'connected_gene': 'OR7A19P', 'score': 0.37}, {'connected_gene': 'ENSG00000272369', 'score': 0.28}, {'connected_gene': 'LOC100288798', 'score': 0.09}, {'connected_gene': 'ENSG00000257261', 'score': 0.09}]
chr12 GH12I046639 46639510 46639877 0.22 [{'connected_gene': 'SLC38A2', 'score': 10.83}, {'connected_gene': 'PIR60015', 'score': 0.34}, {'connected_gene': 'OR7A19P', 'score': 0.25}, {'connected_gene': 'ENSG00000272369', 'score': 0.15}, {'connected_gene': 'LOC100288798', 'score': 0.07}, {'connected_gene': 'ENSG00000257261', 'score': 0.07}]
chr12 GH12I046259 46259218 46259367 0.86 [{'connected_gene': 'SLC38A2', 'score': 10.67}, {'connected_gene': 'LOC105378248', 'score': 0.44}, {'connected_gene': 'SLC38A1', 'score': 0.39}, {'connected_gene': 'ENSG00000274591', 'score': 0.37}]
chr12 GH12I046480 46480208 46481069 0.72 [{'connected_gene': 'SLC38A2', 'score': 11.74}, {'connected_gene': 'ENSG00000272369', 'score': 0.22}, {'connected_gene': 'PIR40337', 'score': 0.18}, {'connected_gene': 'LOC100288798', 'score': 0.15}, {'connected_gene': 'ENSG00000257261', 'score': 0.15}]
chr12 GH12I046489 46489152 46495786 1.64 [{'connected_gene': 'SLC38A2', 'score': 11.54}, {'connected_gene': 'ENSG00000272369', 'score': 0.25}, {'connected_gene': 'PIR40337', 'score': 0.17}, {'connected_gene': 'LOC100288798', 'score': 0.14}, {'connected_gene': 'ENSG00000257261', 'score': 0.14}]
chr12 GH12I046458 46458452 46463574 1.13 [{'connected_gene': 'SLC38A2', 'score': 11.78}, {'connected_gene': 'ENSG00000257261', 'score': 5.75}, {'connected_gene': 'PIR40337', 'score': 0.22}, {'connected_gene': 'ENSG00000272369', 'score': 0.18}, {'connected_gene': 'LOC100288798', 'score': 0.18}]
chr12 GH12I046437 46437954 46440933 0.94 [{'connected_gene': 'SLC38A2', 'score': 11.38}, {'connected_gene': 'ENSG00000257261', 'score': 6.5}, {'connected_gene': 'PIR40337', 'score': 0.29}, {'connected_gene': 'LOC100288798', 'score': 0.22}, {'connected_gene': 'ENSG00000272369', 'score': 0.15}]
chr12 GH12I046496 46496670 46497288 0.31 [{'connected_gene': 'SLC38A2', 'score': 10.9}, {'connected_gene': 'ENSG00000272369', 'score': 0.26}, {'connected_gene': 'PIR40337', 'score': 0.16}, {'connected_gene': 'LOC100288798', 'score': 0.14}, {'connected_gene': 'ENSG00000257261', 'score': 0.14}]
chr12 GH12I046467 46467376 46469204 0.97 [{'connected_gene': 'SLC38A2', 'score': 11.37}, {'connected_gene': 'PIR40337', 'score': 0.21}, {'connected_gene': 'ENSG00000272369', 'score': 0.2}, {'connected_gene': 'LOC100288798', 'score': 0.18}, {'connected_gene': 'ENSG00000257261', 'score': 0.18}]
chr12 GH12I046497 46496499 46496627 0.31 [{'connected_gene': 'SLC38A2', 'score': 10.9}, {'connected_gene': 'ENSG00000272369', 'score': 0.26}, {'connected_gene': 'PIR40337', 'score': 0.16}, {'connected_gene': 'LOC100288798', 'score': 0.14}, {'connected_gene': 'ENSG00000257261', 'score': 0.14}]
chr12 GH12I046476 46476132 46476799 0.85 [{'connected_gene': 'SLC38A2', 'score': 11.74}, {'connected_gene': 'ENSG00000272369', 'score': 0.21}, {'connected_gene': 'PIR40337', 'score': 0.19}, {'connected_gene': 'LOC100288798', 'score': 0.16}, {'connected_gene': 'ENSG00000257261', 'score': 0.16}]
chr12 GH12I046486 46486638 46488237 0.72 [{'connected_gene': 'SLC38A2', 'score': 11.55}, {'connected_gene': 'ENSG00000272369', 'score': 4.48}, {'connected_gene': 'PIR40337', 'score': 0.18}, {'connected_gene': 'LOC100288798', 'score': 0.15}, {'connected_gene': 'ENSG00000257261', 'score': 0.15}]
chr12 GH12I046477 46477076 46478326 0.46 [{'connected_gene': 'SLC38A2', 'score': 11.74}, {'connected_gene': 'ENSG00000272369', 'score': 0.22}, {'connected_gene': 'PIR40337', 'score': 0.19}, {'connected_gene': 'LOC100288798', 'score': 0.16}, {'connected_gene': 'ENSG00000257261', 'score': 0.16}]
chr12 GH12I046428 46428840 46435057 1.45 [{'connected_gene': 'SLC38A2', 'score': 11.4}, {'connected_gene': 'ENSG00000257261', 'score': 6.58}, {'connected_gene': 'PIR40337', 'score': 0.31}, {'connected_gene': 'LOC100288798', 'score': 0.25}, {'connected_gene': 'ENSG00000272369', 'score': 0.14}]
chr12 GH12I046454 46454598 46457306 1.31 [{'connected_gene': 'SLC38A2', 'score': 11.79}, {'connected_gene': 'ENSG00000257261', 'score': 5.23}, {'connected_gene': 'PIR40337', 'score': 0.23}, {'connected_gene': 'LOC100288798', 'score': 0.19}, {'connected_gene': 'ENSG00000272369', 'score': 0.18}]
chr12 GH12I046516 46516606 46519921 1.27 [{'connected_gene': 'SLC38A2', 'score': 10.77}, {'connected_gene': 'ENSG00000257261', 'score': 4.9}, {'connected_gene': 'ENSG00000272369', 'score': 0.37}, {'connected_gene': 'PIR40337', 'score': 0.14}, {'connected_gene': 'LOC100288798', 'score': 0.12}]
chr12 GH12I046673 46673655 46679202 1.15 [{'connected_gene': 'SLC38A2', 'score': 10.8}, {'connected_gene': 'GC12M046682', 'score': 0.44}, {'connected_gene': 'PIR60015', 'score': 0.39}, {'connected_gene': 'ENSG00000257261', 'score': 0.06}]
chr12 GH12I046672 46672270 46672509 0.27 [{'connected_gene': 'SLC38A2', 'score': 1.43}, {'connected_gene': 'PIR60015', 'score': 0.44}, {'connected_gene': 'GC12M046682', 'score': 0.39}, {'connected_gene': 'ENSG00000257261', 'score': 0.06}]
chr12 GH12I046669 46669071 46671021 0.52 [{'connected_gene': 'LINC00938', 'score': 13.95}, {'connected_gene': 'SLC38A2', 'score': 11.57}, {'connected_gene': 'PIR60015', 'score': 0.44}, {'connected_gene': 'GC12M046682', 'score': 0.39}, {'connected_gene': 'ENSG00000257261', 'score': 0.06}]
chr12 GH12I046546 46546506 46564177 1.78 [{'connected_gene': 'ARID2', 'score': 31.75}, {'connected_gene': 'SLC38A2', 'score': 12.93}, {'connected_gene': 'KNOP1P2', 'score': 9.91}, {'connected_gene': 'LINC00938', 'score': 9.75}, {'connected_gene': 'SCAF11', 'score': 9.73}, {'connected_gene': 'ENSG00000257261', 'score': 5.67}, {'connected_gene': 'ENSG00000272369', 'score': 0.37}, {'connected_gene': 'OR7A19P', 'score': 0.28}, {'connected_gene': 'LOC100288798', 'score': 0.09}]
chr12 GH12I046376 46376384 46381263 0.89 [{'connected_gene': 'ARID2', 'score': 70.21}, {'connected_gene': 'KNOP1P2', 'score': 35.5}, {'connected_gene': 'SCAF11', 'score': 33.68}, {'connected_gene': 'SLC38A2', 'score': 12.54}, {'connected_gene': 'LOC102723757', 'score': 11.12}, {'connected_gene': 'LINC00938', 'score': 9.74}, {'connected_gene': 'ENSG00000257261', 'score': 8.61}, {'connected_gene': 'LOC100288798', 'score': 0.77}]
chr12 GH12I046364 46364082 46375085 2.52 [{'connected_gene': 'LOC102723757', 'score': 560.89}, {'connected_gene': 'SLC38A2', 'score': 550.77}, {'connected_gene': 'ARID2', 'score': 62.69}, {'connected_gene': 'KNOP1P2', 'score': 43.15}, {'connected_gene': 'SCAF11', 'score': 35.79}, {'connected_gene': 'LINC00938', 'score': 18.72}, {'connected_gene': 'SLC38A1', 'score': 10.78}, {'connected_gene': 'ENSG00000257261', 'score': 8.92}, {'connected_gene': 'GC12P046358', 'score': 0.39}]
chr12 GH12I046342 46342601 46343907 0.95 [{'connected_gene': 'GC12M046276', 'score': 550.77}, {'connected_gene': 'SLC38A1', 'score': 10.87}, {'connected_gene': 'SLC38A2', 'score': 10.85}, {'connected_gene': 'ENSG00000257261', 'score': 8.18}]
chr12 GH12I046469 46469618 46475806 1.7 [{'connected_gene': 'ENSG00000257261', 'score': 17.27}, {'connected_gene': 'SLC38A2', 'score': 12.0}, {'connected_gene': 'ENSG00000272369', 'score': 0.21}, {'connected_gene': 'PIR40337', 'score': 0.2}, {'connected_gene': 'LOC100288798', 'score': 0.17}]
chr12 GH12I046521 46521842 46526520 1.59 [{'connected_gene': 'ENSG00000257261', 'score': 16.39}, {'connected_gene': 'SLC38A2', 'score': 10.46}, {'connected_gene': 'ENSG00000272369', 'score': 0.39}, {'connected_gene': 'PIR40337', 'score': 0.13}, {'connected_gene': 'LOC100288798', 'score': 0.11}]
chr12 GH12I046357 46357074 46358407 1.3 [{'connected_gene': 'GC12P046358', 'score': 550.77}, {'connected_gene': 'GC12P046357', 'score': 550.77}, {'connected_gene': 'ENSG00000257261', 'score': 6.31}, {'connected_gene': 'SLC38A2', 'score': 0.37}]
chr12 GH12I046657 46657845 46666390 1.74 [{'connected_gene': 'PIR60015', 'score': 550.77}, {'connected_gene': 'ARID2', 'score': 11.6}, {'connected_gene': 'SLC38A2', 'score': 1.86}, {'connected_gene': 'OR7A19P', 'score': 0.2}, {'connected_gene': 'ENSG00000257261', 'score': 0.06}]
chr12 GH12I046358 46358598 46358627 0.69 [{'connected_gene': 'GC12P046358', 'score': 550.77}, {'connected_gene': 'GC12P046357', 'score': 550.77}, {'connected_gene': 'LOC102723757', 'score': 0.39}, {'connected_gene': 'SLC38A2', 'score': 0.39}]
chr12 GH12I046359 46358658 46358747 0.72 [{'connected_gene': 'GC12P046358', 'score': 550.77}, {'connected_gene': 'GC12P046357', 'score': 550.77}, {'connected_gene': 'LOC102723757', 'score': 0.39}, {'connected_gene': 'SLC38A2', 'score': 0.39}]
chr12 GH12I046680 46680781 46681067 0.26 [{'connected_gene': 'GC12M046682', 'score': 550.77}, {'connected_gene': 'MARK3P1', 'score': 550.77}, {'connected_gene': 'SLC38A2', 'score': 10.8}, {'connected_gene': 'PIR60015', 'score': 0.37}, {'connected_gene': 'ENSG00000257261', 'score': 0.06}]
chr12 GH12I046382 46382242 46393407 2.28 [{'connected_gene': 'ENSG00000257496', 'score': 550.77}, {'connected_gene': 'ENSG00000275481', 'score': 550.77}, {'connected_gene': 'KNOP1P2', 'score': 16.03}, {'connected_gene': 'ARID2', 'score': 14.13}, {'connected_gene': 'SCAF11', 'score': 13.7}, {'connected_gene': 'LINC00938', 'score': 10.68}, {'connected_gene': 'LOC102723757', 'score': 10.29}, {'connected_gene': 'SLC38A2', 'score': 10.1}, {'connected_gene': 'ENSG00000257261', 'score': 8.88}, {'connected_gene': 'LOC100288798', 'score': 0.77}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.