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
ENST00000321437 [[63481667, 63481947], [63536954, 63537015], [63541843, 63541904], [63547705, 63547783], [63548703, 63548793], [63551825, 63551891], [63554890, 63554941], [63555725, 63559981]] [[63481823, 63481947], [63536954, 63537015], [63541843, 63541904], [63547705, 63547783], [63548703, 63548793], [63551825, 63551891], [63554890, 63554941], [63555725, 63555818]]
ENST00000558990 [[63481758, 63481947], [63515240, 63515272], [63516046, 63516178], [63536954, 63537015], [63541843, 63541904], [63547705, 63547783], [63548703, 63548793]] [[63481823, 63481947], [63515240, 63515260]]
ENST00000558119 [[63481792, 63481947], [63536954, 63537015], [63541843, 63541904], [63543482, 63543541], [63547705, 63547783], [63548703, 63548793], [63551825, 63551891], [63554890, 63554941], [63555725, 63555878]] [[63481823, 63481947], [63536954, 63537015], [63541843, 63541904], [63543482, 63543515]]
ENST00000559927 [[63481801, 63481947], [63516046, 63516178], [63536954, 63537015], [63541843, 63541904], [63547705, 63547783], [63548703, 63548793], [63551825, 63551891], [63554890, 63554941], [63555725, 63555795]] [[63481823, 63481947], [63516046, 63516069]]
ENST00000559006 [[63481804, 63481947], [63536954, 63537015], [63541843, 63541904], [63547705, 63547783], [63548703, 63548793], [63551825, 63551891], [63554890, 63554975]] [[63481823, 63481947], [63536954, 63537015], [63541843, 63541904], [63547705, 63547783], [63548703, 63548793], [63551825, 63551891], [63554890, 63554975]]
ENST00000448330 [[63481804, 63481947], [63536954, 63537015], [63541843, 63541904], [63547705, 63547783], [63548703, 63548793], [63551825, 63551891], [63555725, 63556587]] [[63481823, 63481947], [63536954, 63537015], [63541843, 63541904], [63547705, 63547783], [63548703, 63548793], [63551825, 63551891], [63555725, 63555818]]
NM_016530 [[63481727, 63481947], [63536954, 63537015], [63541843, 63541904], [63547705, 63547783], [63548703, 63548793], [63551825, 63551891], [63554890, 63554941], [63555725, 63559975]] [[63481823, 63481947], [63536954, 63537015], [63541843, 63541904], [63547705, 63547783], [63548703, 63548793], [63551825, 63551891], [63554890, 63554941], [63555725, 63555818]]
Promoter
Chrom Start End Description
chr15 63481753 63481812 CAGE_peak_1_at_RAB8B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I063446 63446263 63446518 0.24 [{'connected_gene': 'USP3', 'score': 15.38}, {'connected_gene': 'FBXL22', 'score': 10.32}, {'connected_gene': 'HERC1', 'score': 10.27}, {'connected_gene': 'CA12', 'score': 10.08}, {'connected_gene': 'APH1B', 'score': 9.55}, {'connected_gene': 'TPM1-AS', 'score': 4.25}, {'connected_gene': 'RAB8B', 'score': 1.16}, {'connected_gene': 'ENSG00000259268', 'score': 0.34}, {'connected_gene': 'LINC02568', 'score': 0.22}]
chr15 GH15I063472 63472782 63477097 1.68 [{'connected_gene': 'USP3', 'score': 14.51}, {'connected_gene': 'FBXL22', 'score': 11.2}, {'connected_gene': 'CA12', 'score': 10.29}, {'connected_gene': 'RPS27L', 'score': 6.94}, {'connected_gene': 'SNX1', 'score': 5.15}, {'connected_gene': 'HERC1', 'score': 2.71}, {'connected_gene': 'RAB8B', 'score': 1.7}, {'connected_gene': 'ENSG00000259268', 'score': 0.44}, {'connected_gene': 'GC15P069438', 'score': 0.39}]
chr15 GH15I063495 63495065 63507433 2.68 [{'connected_gene': 'USP3', 'score': 568.47}, {'connected_gene': 'ENSG00000276651', 'score': 550.77}, {'connected_gene': 'LACTB', 'score': 33.94}, {'connected_gene': 'TRIP4', 'score': 14.07}, {'connected_gene': 'ZNF609', 'score': 12.91}, {'connected_gene': 'RAB8B', 'score': 11.12}, {'connected_gene': 'FBXL22', 'score': 10.51}, {'connected_gene': 'USP3-AS1', 'score': 8.98}, {'connected_gene': 'LINC02568', 'score': 4.74}, {'connected_gene': 'HERC1', 'score': 3.81}, {'connected_gene': 'APH1B', 'score': 1.68}, {'connected_gene': 'GC15P069449', 'score': 0.39}]
chr15 GH15I063478 63478037 63482040 1.73 [{'connected_gene': 'USP3', 'score': 24.88}, {'connected_gene': 'LACTB', 'score': 21.96}, {'connected_gene': 'HERC1', 'score': 16.3}, {'connected_gene': 'FBXL22', 'score': 11.16}, {'connected_gene': 'ENSG00000259268', 'score': 5.62}, {'connected_gene': 'CA12', 'score': 5.12}, {'connected_gene': 'SNX1', 'score': 5.09}, {'connected_gene': 'RAB8B', 'score': 4.93}, {'connected_gene': 'TPM1', 'score': 4.51}, {'connected_gene': 'GC15P069438', 'score': 0.44}]
chr15 GH15I063249 63249130 63252559 0.72 [{'connected_gene': 'APH1B', 'score': 23.21}, {'connected_gene': 'CA12', 'score': 15.04}, {'connected_gene': 'RPS27L', 'score': 10.88}, {'connected_gene': 'RAB8B', 'score': 10.46}, {'connected_gene': 'LACTB', 'score': 8.89}]
chr15 GH15I063243 63243242 63245826 1.1 [{'connected_gene': 'APH1B', 'score': 11.72}, {'connected_gene': 'RAB8B', 'score': 11.41}, {'connected_gene': 'RPS27L', 'score': 10.65}, {'connected_gene': 'CA12', 'score': 9.96}, {'connected_gene': 'LACTB', 'score': 9.47}]
chr15 GH15I063217 63217858 63219952 1.09 [{'connected_gene': 'APH1B', 'score': 22.1}, {'connected_gene': 'RAB8B', 'score': 16.32}, {'connected_gene': 'RPS27L', 'score': 14.05}]
chr15 GH15I063238 63238201 63239696 1.1 [{'connected_gene': 'APH1B', 'score': 12.09}, {'connected_gene': 'RAB8B', 'score': 11.21}, {'connected_gene': 'LACTB', 'score': 5.0}]
chr15 GH15I063276 63276542 63278873 1.96 [{'connected_gene': 'APH1B', 'score': 565.68}, {'connected_gene': 'LACTB', 'score': 11.09}, {'connected_gene': 'RAB8B', 'score': 10.3}, {'connected_gene': 'RPS27L', 'score': 10.15}, {'connected_gene': 'FBXL22', 'score': 9.05}, {'connected_gene': 'USP3', 'score': 8.95}, {'connected_gene': 'TPM1-AS', 'score': 4.13}, {'connected_gene': 'LOC105370858', 'score': 0.26}]
chr15 GH15I063274 63274297 63274922 0.54 [{'connected_gene': 'APH1B', 'score': 550.77}, {'connected_gene': 'LACTB', 'score': 11.17}, {'connected_gene': 'RAB8B', 'score': 0.17}]
chr15 GH15I063395 63395624 63397029 1.16 [{'connected_gene': 'CA12', 'score': 31.38}, {'connected_gene': 'APH1B', 'score': 10.32}, {'connected_gene': 'FBXL22', 'score': 9.98}, {'connected_gene': 'RAB8B', 'score': 9.73}, {'connected_gene': 'LINC02568', 'score': 0.44}, {'connected_gene': 'ENSG00000259268', 'score': 0.19}]
chr15 GH15I063282 63282801 63283626 0.56 [{'connected_gene': 'CA12', 'score': 10.85}, {'connected_gene': 'RAB8B', 'score': 10.37}, {'connected_gene': 'FBXL22', 'score': 9.58}, {'connected_gene': 'USP3', 'score': 9.39}, {'connected_gene': 'APH1B', 'score': 0.44}, {'connected_gene': 'LOC105370858', 'score': 0.28}]
chr15 GH15I063370 63370962 63375866 1.54 [{'connected_gene': 'CA12', 'score': 33.51}, {'connected_gene': 'LACTB', 'score': 4.74}, {'connected_gene': 'RAB8B', 'score': 1.76}, {'connected_gene': 'GC15M063884', 'score': 0.29}, {'connected_gene': 'PIR45347', 'score': 0.29}]
chr15 GH15I063037 63037294 63057519 2.31 [{'connected_gene': 'TPM1', 'score': 566.09}, {'connected_gene': 'TPM1-AS', 'score': 559.5}, {'connected_gene': 'GC15P068650', 'score': 550.77}, {'connected_gene': 'GC15P069319', 'score': 550.77}, {'connected_gene': 'RPS27L', 'score': 16.09}, {'connected_gene': 'VPS13C', 'score': 11.53}, {'connected_gene': 'USP3', 'score': 10.87}, {'connected_gene': 'RAB8B', 'score': 9.19}, {'connected_gene': 'LACTB', 'score': 6.17}, {'connected_gene': 'GC15P069490', 'score': 0.77}, {'connected_gene': 'GC15P069499', 'score': 0.15}]
chr15 GH15I063139 63139932 63140233 0.25 [{'connected_gene': 'RAB8B', 'score': 3.05}, {'connected_gene': 'USP3', 'score': 2.69}, {'connected_gene': 'LACTB', 'score': 2.43}, {'connected_gene': 'RPS27L', 'score': 0.37}]
chr15 GH15I063494 63494190 63495052 0.91 [{'connected_gene': 'RAB8B', 'score': 2.45}, {'connected_gene': 'USP3', 'score': 2.43}, {'connected_gene': 'GC15P069449', 'score': 0.77}, {'connected_gene': 'ENSG00000276651', 'score': 0.44}]
chr15 GH15I063221 63221355 63222399 0.83 [{'connected_gene': 'RAB8B', 'score': 11.73}, {'connected_gene': 'APH1B', 'score': 11.32}, {'connected_gene': 'CA12', 'score': 9.64}]
chr15 GH15I063199 63199711 63199711 0.51 [{'connected_gene': 'RAB8B', 'score': 0.39}, {'connected_gene': 'APH1B', 'score': 0.18}]
chr15 GH15I063197 63197437 63197677 0.58 [{'connected_gene': 'RAB8B', 'score': 0.44}, {'connected_gene': 'APH1B', 'score': 0.18}]
chr15 GH15I063200 63200397 63201839 0.69 [{'connected_gene': 'RAB8B', 'score': 5.38}, {'connected_gene': 'APH1B', 'score': 0.19}]
chr15 GH15I063107 63107044 63109255 1.31 [{'connected_gene': 'RAB8B', 'score': 10.03}, {'connected_gene': 'TPM1', 'score': 9.16}, {'connected_gene': 'LACTB', 'score': 8.8}, {'connected_gene': 'RPS27L', 'score': 5.14}, {'connected_gene': 'ENSG00000259672', 'score': 0.44}]
chr15 GH15I063188 63188600 63197169 2.57 [{'connected_gene': 'RAB8B', 'score': 565.52}, {'connected_gene': 'RPS27L', 'score': 26.72}, {'connected_gene': 'USP3', 'score': 20.27}, {'connected_gene': 'LACTB', 'score': 14.0}, {'connected_gene': 'APH1B', 'score': 11.4}, {'connected_gene': 'SNX1', 'score': 11.16}, {'connected_gene': 'USP3-AS1', 'score': 10.71}, {'connected_gene': 'LOC101928972', 'score': 0.77}]
chr15 GH15I063246 63246463 63248318 1.35 [{'connected_gene': 'RAB8B', 'score': 19.97}, {'connected_gene': 'RPS27L', 'score': 17.2}, {'connected_gene': 'APH1B', 'score': 12.62}, {'connected_gene': 'CA12', 'score': 9.96}, {'connected_gene': 'USP3', 'score': 6.96}, {'connected_gene': 'LACTB', 'score': 5.97}]
chr15 GH15I063393 63392401 63393107 0.91 [{'connected_gene': 'RAB8B', 'score': 9.73}, {'connected_gene': 'FBXL22', 'score': 9.72}, {'connected_gene': 'LINC02568', 'score': 0.77}, {'connected_gene': 'ENSG00000259268', 'score': 0.18}]
chr15 GH15I063295 63295740 63296645 0.57 [{'connected_gene': 'RAB8B', 'score': 4.28}, {'connected_gene': 'LOC105370858', 'score': 0.34}, {'connected_gene': 'APH1B', 'score': 0.34}]
chr15 GH15I063187 63187682 63187831 0.57 [{'connected_gene': 'RAB8B', 'score': 550.77}, {'connected_gene': 'LOC101928972', 'score': 550.77}, {'connected_gene': 'RPS27L', 'score': 14.23}]
chr15 GH15I063228 63228940 63229487 0.51 [{'connected_gene': 'RPS27L', 'score': 11.68}, {'connected_gene': 'APH1B', 'score': 11.54}, {'connected_gene': 'RAB8B', 'score': 11.51}, {'connected_gene': 'CA12', 'score': 10.21}, {'connected_gene': 'FBXL22', 'score': 9.44}]
chr15 GH15I063230 63229827 63230210 0.2 [{'connected_gene': 'RPS27L', 'score': 11.68}, {'connected_gene': 'APH1B', 'score': 11.54}, {'connected_gene': 'RAB8B', 'score': 11.5}, {'connected_gene': 'CA12', 'score': 10.21}, {'connected_gene': 'FBXL22', 'score': 9.44}]
chr15 GH15I063229 63229582 63229731 0.2 [{'connected_gene': 'RPS27L', 'score': 11.68}, {'connected_gene': 'APH1B', 'score': 11.54}, {'connected_gene': 'RAB8B', 'score': 11.5}, {'connected_gene': 'CA12', 'score': 10.21}, {'connected_gene': 'FBXL22', 'score': 9.44}]
chr15 GH15I063235 63235801 63236616 0.94 [{'connected_gene': 'RPS27L', 'score': 17.23}, {'connected_gene': 'APH1B', 'score': 17.16}, {'connected_gene': 'RAB8B', 'score': 11.85}, {'connected_gene': 'LACTB', 'score': 10.88}]
chr15 GH15I063226 63226143 63227622 1.26 [{'connected_gene': 'RPS27L', 'score': 13.24}, {'connected_gene': 'APH1B', 'score': 11.95}, {'connected_gene': 'RAB8B', 'score': 11.43}, {'connected_gene': 'LACTB', 'score': 10.75}]
chr15 GH15I063237 63237401 63237800 0.2 [{'connected_gene': 'RPS27L', 'score': 25.28}, {'connected_gene': 'APH1B', 'score': 12.27}, {'connected_gene': 'RAB8B', 'score': 11.85}]
chr15 GH15I063203 63203362 63204085 1 [{'connected_gene': 'RPS27L', 'score': 7.26}, {'connected_gene': 'APH1B', 'score': 5.08}, {'connected_gene': 'RAB8B', 'score': 0.39}]
chr15 GH15I063207 63207629 63209068 0.43 [{'connected_gene': 'RPS27L', 'score': 24.46}, {'connected_gene': 'APH1B', 'score': 22.06}, {'connected_gene': 'RAB8B', 'score': 5.35}]
chr15 GH15I063205 63205299 63207501 0.56 [{'connected_gene': 'RPS27L', 'score': 24.43}, {'connected_gene': 'APH1B', 'score': 11.51}, {'connected_gene': 'LACTB', 'score': 10.99}, {'connected_gene': 'RAB8B', 'score': 0.37}]
chr15 GH15I063231 63231326 63235399 1.34 [{'connected_gene': 'RPS27L', 'score': 25.55}, {'connected_gene': 'RAB8B', 'score': 24.08}, {'connected_gene': 'USP3', 'score': 17.2}, {'connected_gene': 'LACTB', 'score': 13.12}, {'connected_gene': 'APH1B', 'score': 12.26}, {'connected_gene': 'CA12', 'score': 10.22}, {'connected_gene': 'FBXL22', 'score': 9.44}, {'connected_gene': 'TPM1-AS', 'score': 4.18}]
chr15 GH15I063209 63209973 63215200 1.3 [{'connected_gene': 'RPS27L', 'score': 25.27}, {'connected_gene': 'RAB8B', 'score': 16.6}, {'connected_gene': 'APH1B', 'score': 11.51}, {'connected_gene': 'LACTB', 'score': 10.63}, {'connected_gene': 'FBXL22', 'score': 9.86}, {'connected_gene': 'CA12', 'score': 9.65}]
chr15 GH15I063259 63259979 63261471 0.54 [{'connected_gene': 'RPS27L', 'score': 11.07}, {'connected_gene': 'RAB8B', 'score': 10.9}, {'connected_gene': 'APH1B', 'score': 0.37}]
chr15 GH15I063264 63264614 63265112 0.31 [{'connected_gene': 'RPS27L', 'score': 10.92}, {'connected_gene': 'RAB8B', 'score': 10.47}, {'connected_gene': 'APH1B', 'score': 0.39}]
chr15 GH15I063265 63264205 63264390 0.2 [{'connected_gene': 'RPS27L', 'score': 15.57}, {'connected_gene': 'RAB8B', 'score': 10.48}, {'connected_gene': 'APH1B', 'score': 0.39}]
chr15 GH15I063255 63255510 63257667 1.07 [{'connected_gene': 'RPS27L', 'score': 21.29}, {'connected_gene': 'RAB8B', 'score': 10.91}, {'connected_gene': 'CA12', 'score': 9.96}, {'connected_gene': 'LACTB', 'score': 4.82}, {'connected_gene': 'APH1B', 'score': 0.37}]
chr15 GH15I063104 63104584 63105600 0.97 [{'connected_gene': 'RPS27L', 'score': 18.93}, {'connected_gene': 'RAB8B', 'score': 10.03}, {'connected_gene': 'TPM1', 'score': 8.85}, {'connected_gene': 'LACTB', 'score': 8.8}, {'connected_gene': 'TPM1-AS', 'score': 4.62}, {'connected_gene': 'ENSG00000259672', 'score': 0.44}]
chr15 GH15I063113 63113908 63114908 0.38 [{'connected_gene': 'RPS27L', 'score': 11.5}, {'connected_gene': 'RAB8B', 'score': 9.76}, {'connected_gene': 'TPM1', 'score': 9.56}, {'connected_gene': 'LACTB', 'score': 0.44}, {'connected_gene': 'ENSG00000259672', 'score': 0.37}]
chr15 GH15I063518 63518801 63519000 0.63 [{'connected_gene': 'FBXL22', 'score': 11.35}, {'connected_gene': 'CA12', 'score': 9.73}, {'connected_gene': 'RAB8B', 'score': 8.89}, {'connected_gene': 'USP3', 'score': 0.39}]
chr15 GH15I063520 63520601 63520800 0.66 [{'connected_gene': 'FBXL22', 'score': 11.36}, {'connected_gene': 'CA12', 'score': 9.73}, {'connected_gene': 'RAB8B', 'score': 8.9}, {'connected_gene': 'USP3', 'score': 0.37}]
chr15 GH15I063202 63202205 63203199 0.82 [{'connected_gene': 'LACTB', 'score': 4.3}, {'connected_gene': 'RAB8B', 'score': 0.39}, {'connected_gene': 'APH1B', 'score': 0.19}]
chr15 GH15I063198 63198155 63199445 1.2 [{'connected_gene': 'LACTB', 'score': 4.33}, {'connected_gene': 'RAB8B', 'score': 0.44}, {'connected_gene': 'APH1B', 'score': 0.18}]
chr15 GH15I063133 63133375 63137399 1.38 [{'connected_gene': 'LACTB', 'score': 26.1}, {'connected_gene': 'RPS27L', 'score': 19.57}, {'connected_gene': 'RAB8B', 'score': 17.35}, {'connected_gene': 'APH1B', 'score': 10.89}, {'connected_gene': 'CA12', 'score': 10.06}, {'connected_gene': 'TPM1', 'score': 9.26}, {'connected_gene': 'TPM1-AS', 'score': 8.49}, {'connected_gene': 'USP3', 'score': 7.34}]
chr15 GH15I063392 63391813 63392234 0.74 [{'connected_gene': 'LINC02568', 'score': 550.77}, {'connected_gene': 'APH1B', 'score': 10.31}, {'connected_gene': 'RAB8B', 'score': 9.73}, {'connected_gene': 'FBXL22', 'score': 9.72}, {'connected_gene': 'ENSG00000259268', 'score': 0.18}]
chr15 GH15I063516 63516842 63518399 0.89 [{'connected_gene': 'USP3-AS1', 'score': 13.57}, {'connected_gene': 'FBXL22', 'score': 11.35}, {'connected_gene': 'CA12', 'score': 9.73}, {'connected_gene': 'RAB8B', 'score': 8.89}, {'connected_gene': 'USP3', 'score': 0.39}]
chr15 GH15I063521 63521022 63524003 1.17 [{'connected_gene': 'USP3-AS1', 'score': 13.58}, {'connected_gene': 'FBXL22', 'score': 11.36}, {'connected_gene': 'CA12', 'score': 9.72}, {'connected_gene': 'RAB8B', 'score': 8.9}, {'connected_gene': 'USP3', 'score': 0.37}]
chr15 GH15I063489 63489801 63493588 1.61 [{'connected_gene': 'GC15P069449', 'score': 550.77}, {'connected_gene': 'LACTB', 'score': 36.78}, {'connected_gene': 'USP3', 'score': 18.46}, {'connected_gene': 'RAB8B', 'score': 12.25}, {'connected_gene': 'APH1B', 'score': 1.72}, {'connected_gene': 'HERC1', 'score': 1.5}, {'connected_gene': 'ENSG00000276651', 'score': 0.39}]
chr15 GH15I063486 63486424 63489029 1.64 [{'connected_gene': 'GC15P069438', 'score': 550.77}, {'connected_gene': 'LACTB', 'score': 31.02}, {'connected_gene': 'USP3', 'score': 7.38}, {'connected_gene': 'USP3-AS1', 'score': 5.37}, {'connected_gene': 'CA12', 'score': 5.13}, {'connected_gene': 'RAB8B', 'score': 5.07}, {'connected_gene': 'LINC02568', 'score': 4.54}, {'connected_gene': 'SNX1', 'score': 4.0}, {'connected_gene': 'ENSG00000259268', 'score': 0.37}]

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