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
ENST00000436008 [[3269195, 3273646], [3284085, 3284209], [3285169, 3285193], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3324067, 3324236], [3410421, 3410576], [3415985, 3416089], [3456139, 3457256]] [[3273288, 3273646], [3284085, 3284209], [3285169, 3285193], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3324067, 3324236], [3410421, 3410576], [3415985, 3416089], [3456139, 3456793]]
ENST00000406686 [[3269691, 3273646], [3284085, 3284209], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3324067, 3324236], [3410421, 3410576], [3415985, 3416089], [3456139, 3456793]] [[3273288, 3273646], [3284085, 3284209], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3324067, 3324236], [3410421, 3410576], [3415985, 3416089], [3456139, 3456793]]
ENST00000497691 [[3272007, 3272725], [3273062, 3273646], [3284085, 3284209], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3323499, 3323552], [3324067, 3324236], [3410421, 3410576], [3415985, 3416089], [3445052, 3445203]] [[3323512, 3323552], [3324067, 3324236], [3410421, 3410491]]
ENST00000380302 [[3272007, 3273646], [3284085, 3284209], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3324067, 3324236], [3410421, 3410576], [3415985, 3416089], [3445052, 3445247]] [[3273288, 3273646], [3284085, 3284209], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3324067, 3324236], [3410421, 3410491]]
ENST00000490273 [[3273063, 3273646], [3284085, 3284209], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3324067, 3324236], [3410421, 3410576], [3415985, 3416089], [3432327, 3432572], [3445052, 3445218]] [[3273288, 3273646], [3284085, 3284209], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3324067, 3324236], [3410421, 3410491]]
ENST00000482874 [[3273589, 3273646], [3276914, 3277210], [3284085, 3284354]] None
ENST00000485307 [[3283698, 3284209], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3324067, 3324236], [3410421, 3410576], [3415985, 3416089], [3456139, 3456277]] [[3283949, 3284209], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3324067, 3324236], [3410421, 3410576], [3415985, 3416089], [3456139, 3456277]]
ENST00000467177 [[3284107, 3284209], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3324067, 3324236], [3410421, 3410576], [3415985, 3416089], [3438717, 3438789], [3439530, 3439652]] [[3284107, 3284209], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3324067, 3324236], [3410421, 3410576], [3415985, 3416089], [3438717, 3438789], [3439530, 3439590]]
ENST00000380298 [[3323575, 3324236], [3410421, 3410576], [3415985, 3416089], [3456139, 3456793]] [[3324063, 3324236], [3410421, 3410576], [3415985, 3416089], [3456139, 3456793]]
ENST00000467144 [[3287217, 3287325], [3289997, 3290100], [3298324, 3298452], [3324120, 3324236], [3324330, 3324417]] None
ENST00000496753 [[3289999, 3290100], [3298324, 3298452], [3324067, 3324236], [3378057, 3378220]] None
ENST00000433689 [[3323575, 3324236], [3324330, 3324399]] None
NM_021945 [[3269206, 3273646], [3284085, 3284209], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3324067, 3324236], [3410421, 3410576], [3415985, 3416089], [3432327, 3432572], [3445052, 3445247]] [[3273288, 3273646], [3284085, 3284209], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3324067, 3324236], [3410421, 3410491]]
NR_104448 [[3269206, 3272725], [3273062, 3273646], [3284085, 3284209], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3323499, 3323552], [3324067, 3324236], [3410421, 3410576], [3415985, 3416089], [3445052, 3445247]] None
NM_001286455 [[3269206, 3273646], [3284085, 3284209], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3324067, 3324236], [3410421, 3410576], [3415985, 3416089], [3445052, 3445247]] [[3273288, 3273646], [3284085, 3284209], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3324067, 3324236], [3410421, 3410491]]
NM_015482 [[3269206, 3273646], [3284085, 3284209], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3324067, 3324236], [3410421, 3410576], [3415985, 3416089], [3456139, 3456793]] [[3273288, 3273646], [3284085, 3284209], [3285312, 3285345], [3287092, 3287325], [3289997, 3290100], [3298324, 3298452], [3324067, 3324236], [3410421, 3410576], [3415985, 3416089], [3456139, 3456793]]
NM_001286456 [[3323557, 3324236], [3410421, 3410576], [3415985, 3416089], [3456139, 3456793]] [[3324063, 3324236], [3410421, 3410576], [3415985, 3416089], [3456139, 3456793]]
Promoter
Chrom Start End Description
chr6 3324377 3324388 CAGE_peak_20_at_SLC22A23_5end
chr6 3378254 3378263 CAGE_peak_27_at_SLC22A23_5end
chr6 3456267 3456293 CAGE_peak_5_at_SLC22A23_5end
chr6 3456304 3456316 CAGE_peak_10_at_SLC22A23_5end
chr6 3457078 3457089 CAGE_peak_9_at_SLC22A23_5end
chr6 3457117 3457138 CAGE_peak_3_at_SLC22A23_5end
chr6 3457168 3457180 CAGE_peak_7_at_SLC22A23_5end
chr6 3457231 3457242 CAGE_peak_6_at_SLC22A23_5end
chr6 3457257 3457292 CAGE_peak_1_at_SLC22A23_5end
chr6 3457293 3457333 CAGE_peak_2_at_SLC22A23_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I003347 3347192 3348584 0.8 [{'connected_gene': 'PRPF4B', 'score': 24.45}, {'connected_gene': 'RIPK1', 'score': 14.62}, {'connected_gene': 'GC06M003328', 'score': 0.37}, {'connected_gene': 'GC06M003358', 'score': 0.22}, {'connected_gene': 'SLC22A23', 'score': 0.14}]
chr6 GH06I003334 3334146 3335088 0.85 [{'connected_gene': 'PRPF4B', 'score': 15.21}, {'connected_gene': 'RIPK1', 'score': 10.19}, {'connected_gene': 'GC06M003328', 'score': 0.44}, {'connected_gene': 'GC06M003358', 'score': 0.19}, {'connected_gene': 'SLC22A23', 'score': 0.13}]
chr6 GH06I003337 3337202 3342717 1.43 [{'connected_gene': 'PRPF4B', 'score': 35.42}, {'connected_gene': 'PSMG4', 'score': 21.97}, {'connected_gene': 'SLC22A23', 'score': 11.12}, {'connected_gene': 'RIPK1', 'score': 10.19}, {'connected_gene': 'TUBB2B', 'score': 9.9}, {'connected_gene': 'ENSG00000272320', 'score': 5.99}, {'connected_gene': 'WRNIP1', 'score': 5.47}, {'connected_gene': 'GC06M003328', 'score': 0.39}, {'connected_gene': 'GC06M003358', 'score': 0.2}]
chr6 GH06I003501 3501427 3501757 0.38 [{'connected_gene': 'PRPF4B', 'score': 17.7}, {'connected_gene': 'PSMG4', 'score': 13.05}, {'connected_gene': 'SLC22A23', 'score': 11.88}, {'connected_gene': 'C6orf201', 'score': 11.34}, {'connected_gene': 'PIR56392', 'score': 0.39}, {'connected_gene': 'GC06P003478', 'score': 0.34}]
chr6 GH06I003246 3246622 3249686 1.53 [{'connected_gene': 'TUBB2A', 'score': 20.87}, {'connected_gene': 'TUBB2B', 'score': 17.06}, {'connected_gene': 'ENSG00000228170', 'score': 11.32}, {'connected_gene': 'BPHL', 'score': 10.93}, {'connected_gene': 'SLC22A23', 'score': 2.0}, {'connected_gene': 'PIR45758', 'score': 0.37}, {'connected_gene': 'PSMG4', 'score': 0.37}]
chr6 GH06I003254 3254039 3254408 0.64 [{'connected_gene': 'SLC22A23', 'score': 15.47}, {'connected_gene': 'ENSG00000228170', 'score': 11.32}, {'connected_gene': 'BPHL', 'score': 10.92}, {'connected_gene': 'PSMG4', 'score': 9.98}, {'connected_gene': 'PIR45758', 'score': 0.44}, {'connected_gene': 'TUBB2B', 'score': 0.34}]
chr6 GH06I003489 3489121 3490079 0.59 [{'connected_gene': 'SLC22A23', 'score': 12.29}, {'connected_gene': 'HTATSF1P2', 'score': 4.56}, {'connected_gene': 'GC06P003478', 'score': 0.39}, {'connected_gene': 'PIR56392', 'score': 0.34}]
chr6 GH06I003377 3377034 3385949 1.76 [{'connected_gene': 'SLC22A23', 'score': 15.91}, {'connected_gene': 'PSMG4', 'score': 14.91}, {'connected_gene': 'PRPF4B', 'score': 14.79}, {'connected_gene': 'ENSG00000272320', 'score': 11.69}, {'connected_gene': 'ENSG00000228170', 'score': 11.45}, {'connected_gene': 'C6orf201', 'score': 4.65}, {'connected_gene': 'GC06M003358', 'score': 0.34}, {'connected_gene': 'GC06M003328', 'score': 0.23}]
chr6 GH06I003421 3421602 3425057 1.2 [{'connected_gene': 'SLC22A23', 'score': 12.71}, {'connected_gene': 'SERPINB1', 'score': 4.83}, {'connected_gene': 'GC06M003429', 'score': 0.44}, {'connected_gene': 'LOC105374890', 'score': 0.39}]
chr6 GH06I003412 3412719 3415678 1.26 [{'connected_gene': 'SLC22A23', 'score': 12.25}, {'connected_gene': 'LOC105374890', 'score': 0.77}, {'connected_gene': 'GC06M003429', 'score': 0.37}]
chr6 GH06I003454 3454505 3457976 2.2 [{'connected_gene': 'SLC22A23', 'score': 556.65}, {'connected_gene': 'ENSG00000228170', 'score': 9.98}, {'connected_gene': 'GC06M003429', 'score': 0.31}]
chr6 GH06I003317 3317900 3319746 0.63 [{'connected_gene': 'SLC22A23', 'score': 5.4}, {'connected_gene': 'ENSG00000272320', 'score': 0.44}, {'connected_gene': 'GC06M003328', 'score': 0.39}]
chr6 GH06I003443 3443787 3445147 1.18 [{'connected_gene': 'SLC22A23', 'score': 550.39}, {'connected_gene': 'GC06M003429', 'score': 0.39}]
chr6 GH06I003439 3439867 3440455 0.72 [{'connected_gene': 'SLC22A23', 'score': 5.03}, {'connected_gene': 'GC06M003429', 'score': 0.39}]
chr6 GH06I003437 3437907 3439130 1.29 [{'connected_gene': 'SLC22A23', 'score': 7.03}, {'connected_gene': 'GC06M003429', 'score': 0.44}]
chr6 GH06I003388 3388639 3391647 1.57 [{'connected_gene': 'SERPINB6', 'score': 2.11}, {'connected_gene': 'SLC22A23', 'score': 1.66}, {'connected_gene': 'PXDC1', 'score': 1.21}, {'connected_gene': 'GC06M003358', 'score': 0.37}, {'connected_gene': 'GC06M003328', 'score': 0.21}]
chr6 GH06I003392 3392234 3394068 1.2 [{'connected_gene': 'C6orf201', 'score': 5.97}, {'connected_gene': 'GC06M003358', 'score': 0.39}, {'connected_gene': 'SLC22A23', 'score': 0.21}, {'connected_gene': 'GC06M003328', 'score': 0.21}]
chr6 GH06I003397 3397291 3400855 1.03 [{'connected_gene': 'C6orf201', 'score': 4.61}, {'connected_gene': 'GC06M003358', 'score': 0.44}, {'connected_gene': 'SLC22A23', 'score': 0.22}, {'connected_gene': 'GC06M003328', 'score': 0.2}]
chr6 GH06I003418 3418021 3421000 1.37 [{'connected_gene': 'PSMG4', 'score': 12.3}, {'connected_gene': 'PRPF4B', 'score': 12.14}, {'connected_gene': 'SLC22A23', 'score': 6.55}, {'connected_gene': 'SERPINB1', 'score': 5.65}, {'connected_gene': 'LOC105374890', 'score': 0.44}, {'connected_gene': 'GC06M003429', 'score': 0.39}]
chr6 GH06I003349 3349163 3352023 1.78 [{'connected_gene': 'PSMG4', 'score': 4.93}, {'connected_gene': 'SLC22A23', 'score': 2.18}, {'connected_gene': 'TUBB2B', 'score': 1.34}, {'connected_gene': 'GC06M003328', 'score': 0.34}, {'connected_gene': 'GC06M003358', 'score': 0.22}]
chr6 GH06I003348 3348947 3349096 0.63 [{'connected_gene': 'PSMG4', 'score': 4.91}, {'connected_gene': 'GC06M003328', 'score': 0.37}, {'connected_gene': 'GC06M003358', 'score': 0.22}, {'connected_gene': 'SLC22A23', 'score': 0.14}]
chr6 GH06I003280 3280786 3283177 0.72 [{'connected_gene': 'PSMG4', 'score': 19.69}, {'connected_gene': 'TUBB2B', 'score': 10.86}, {'connected_gene': 'ENSG00000228170', 'score': 9.97}, {'connected_gene': 'GC06P003292', 'score': 0.39}, {'connected_gene': 'PIR47461', 'score': 0.39}, {'connected_gene': 'SLC22A23', 'score': 0.1}]
chr6 GH06I003360 3360303 3362117 0.82 [{'connected_gene': 'PSMG4', 'score': 14.91}, {'connected_gene': 'TUBB2B', 'score': 10.1}, {'connected_gene': 'GC06M003328', 'score': 0.29}, {'connected_gene': 'GC06M003358', 'score': 0.26}, {'connected_gene': 'SLC22A23', 'score': 0.15}]
chr6 GH06I003386 3386007 3387042 0.88 [{'connected_gene': 'TUBB2B', 'score': 4.41}, {'connected_gene': 'TUBB2A', 'score': 4.17}, {'connected_gene': 'SLC22A23', 'score': 1.84}, {'connected_gene': 'GC06M003358', 'score': 0.37}, {'connected_gene': 'GC06M003328', 'score': 0.22}]
chr6 GH06I003279 3279600 3280001 1 [{'connected_gene': 'TUBB2B', 'score': 10.87}, {'connected_gene': 'PSMG4', 'score': 10.87}, {'connected_gene': 'ENSG00000228170', 'score': 9.97}, {'connected_gene': 'GC06P003292', 'score': 0.39}, {'connected_gene': 'PIR47461', 'score': 0.39}, {'connected_gene': 'SLC22A23', 'score': 0.1}]
chr6 GH06I003358 3358766 3359727 0.46 [{'connected_gene': 'TUBB2B', 'score': 10.1}, {'connected_gene': 'PSMG4', 'score': 10.1}, {'connected_gene': 'GC06M003328', 'score': 0.29}, {'connected_gene': 'GC06M003358', 'score': 0.25}, {'connected_gene': 'SLC22A23', 'score': 0.15}]
chr6 GH06I003353 3353861 3358689 1.44 [{'connected_gene': 'TUBB2B', 'score': 10.1}, {'connected_gene': 'PSMG4', 'score': 10.1}, {'connected_gene': 'GC06M003328', 'score': 0.31}, {'connected_gene': 'GC06M003358', 'score': 0.25}, {'connected_gene': 'SLC22A23', 'score': 0.15}]
chr6 GH06I003441 3441330 3442496 0.31 [{'connected_gene': 'SERPINB1', 'score': 5.01}, {'connected_gene': 'SLC22A23', 'score': 4.91}, {'connected_gene': 'GC06M003429', 'score': 0.39}]
chr6 GH06I003416 3416547 3417034 0.31 [{'connected_gene': 'LOC105374890', 'score': 0.44}, {'connected_gene': 'GC06M003429', 'score': 0.39}, {'connected_gene': 'SLC22A23', 'score': 0.26}]
chr6 GH06I003431 3431420 3433365 0.69 [{'connected_gene': 'TUBB2BP1', 'score': 5.07}, {'connected_gene': 'SERPINB1', 'score': 4.31}, {'connected_gene': 'GC06M003429', 'score': 0.77}, {'connected_gene': 'SLC22A23', 'score': 0.34}]
chr6 GH06I003401 3401539 3412531 1.74 [{'connected_gene': 'GC06M003358', 'score': 550.77}, {'connected_gene': 'SLC22A23', 'score': 14.84}, {'connected_gene': 'BPHL', 'score': 2.37}, {'connected_gene': 'TUBB2B', 'score': 2.07}, {'connected_gene': 'LOC105374890', 'score': 0.77}]
chr6 GH06I003427 3427679 3427973 0.53 [{'connected_gene': 'GC06M003429', 'score': 550.77}, {'connected_gene': 'SLC22A23', 'score': 2.5}, {'connected_gene': 'LOC105374890', 'score': 0.37}]
chr6 GH06I003330 3329495 3329639 0.4 [{'connected_gene': 'GC06M003328', 'score': 550.77}, {'connected_gene': 'GC06M003358', 'score': 0.18}, {'connected_gene': 'SLC22A23', 'score': 0.13}]
chr6 GH06I003346 3346007 3346156 0.4 [{'connected_gene': 'GC06M003328', 'score': 0.37}, {'connected_gene': 'GC06M003358', 'score': 0.22}, {'connected_gene': 'SLC22A23', 'score': 0.14}]
chr6 GH06I003365 3365254 3365735 0.52 [{'connected_gene': 'GC06M003328', 'score': 0.28}, {'connected_gene': 'GC06M003358', 'score': 0.26}, {'connected_gene': 'SLC22A23', 'score': 0.16}]
chr6 GH06I003328 3328852 3329191 0.38 [{'connected_gene': 'GC06M003328', 'score': 550.77}, {'connected_gene': 'ENSG00000272320', 'score': 0.37}, {'connected_gene': 'SLC22A23', 'score': 0.13}]
chr6 GH06I003366 3366378 3368473 1.28 [{'connected_gene': 'GC06M003358', 'score': 0.28}, {'connected_gene': 'GC06M003328', 'score': 0.28}, {'connected_gene': 'SLC22A23', 'score': 0.17}]
chr6 GH06I003321 3321660 3322804 0.31 [{'connected_gene': 'ENSG00000260604', 'score': 4.69}, {'connected_gene': 'GC06M003328', 'score': 0.44}, {'connected_gene': 'ENSG00000272320', 'score': 0.39}, {'connected_gene': 'SLC22A23', 'score': 0.12}]
chr6 GH06I003376 3376107 3376923 0.63 [{'connected_gene': 'GC06M003358', 'score': 0.31}, {'connected_gene': 'GC06M003328', 'score': 0.25}, {'connected_gene': 'SLC22A23', 'score': 0.18}]
chr6 GH06I003312 3312111 3313220 0.46 [{'connected_gene': 'ENSG00000272320', 'score': 550.77}, {'connected_gene': 'GC06M003328', 'score': 0.37}, {'connected_gene': 'SLC22A23', 'score': 0.11}]
chr6 GH06I003432 3430212 3430498 0.2 [{'connected_gene': 'GC06M003429', 'score': 550.77}, {'connected_gene': 'SLC22A23', 'score': 4.92}]
chr6 GH06I003323 3323074 3326843 1.32 [{'connected_gene': 'GC06M003328', 'score': 0.77}, {'connected_gene': 'ENSG00000272320', 'score': 0.39}, {'connected_gene': 'SLC22A23', 'score': 0.12}]
chr6 GH06I003387 3387741 3388256 0.31 [{'connected_gene': 'GC06M003358', 'score': 0.37}, {'connected_gene': 'GC06M003328', 'score': 0.22}, {'connected_gene': 'SLC22A23', 'score': 0.2}]
chr6 GH06I003362 3362598 3364749 1.02 [{'connected_gene': 'GC06M003328', 'score': 0.29}, {'connected_gene': 'GC06M003358', 'score': 0.26}, {'connected_gene': 'SLC22A23', 'score': 0.16}]
chr6 GH06I003331 3331382 3332659 0.46 [{'connected_gene': 'GC06M003328', 'score': 0.77}, {'connected_gene': 'GC06M003358', 'score': 0.19}, {'connected_gene': 'SLC22A23', 'score': 0.13}]
chr6 GH06I003332 3332967 3333237 0.57 [{'connected_gene': 'GC06M003328', 'score': 0.77}, {'connected_gene': 'GC06M003358', 'score': 0.19}, {'connected_gene': 'SLC22A23', 'score': 0.13}]
chr6 GH06I003394 3394467 3395589 0.52 [{'connected_gene': 'GC06M003358', 'score': 0.39}, {'connected_gene': 'SLC22A23', 'score': 0.21}, {'connected_gene': 'GC06M003328', 'score': 0.2}]
chr6 GH06I003336 3336025 3336773 0.38 [{'connected_gene': 'GC06M003328', 'score': 0.44}, {'connected_gene': 'GC06M003358', 'score': 0.2}, {'connected_gene': 'SLC22A23', 'score': 0.13}]
chr6 GH06I003329 3328247 3328396 0.51 [{'connected_gene': 'GC06M003328', 'score': 550.77}, {'connected_gene': 'ENSG00000272320', 'score': 0.37}, {'connected_gene': 'SLC22A23', 'score': 0.13}]
chr6 GH06I003369 3369851 3374452 1.39 [{'connected_gene': 'GC06M003358', 'score': 0.29}, {'connected_gene': 'GC06M003328', 'score': 0.26}, {'connected_gene': 'SLC22A23', 'score': 0.18}]
chr6 GH06I003375 3375192 3375808 0.2 [{'connected_gene': 'GC06M003358', 'score': 0.29}, {'connected_gene': 'GC06M003328', 'score': 0.25}, {'connected_gene': 'SLC22A23', 'score': 0.18}]
chr6 GH06I003430 3430540 3430838 0.2 [{'connected_gene': 'GC06M003429', 'score': 550.77}, {'connected_gene': 'SLC22A23', 'score': 4.85}]
chr6 GH06I003269 3269706 3271135 0.49 [{'connected_gene': 'PIR47461', 'score': 550.77}, {'connected_gene': 'PSMG4', 'score': 17.29}, {'connected_gene': 'TUBB2B', 'score': 11.95}, {'connected_gene': 'BPHL', 'score': 10.89}, {'connected_gene': 'ENSG00000228170', 'score': 10.47}, {'connected_gene': 'GC06P003292', 'score': 0.34}, {'connected_gene': 'SLC22A23', 'score': 0.09}]
chr6 GH06I003425 3425487 3426008 0.52 [{'connected_gene': 'GC06M003429', 'score': 0.77}, {'connected_gene': 'LOC105374890', 'score': 0.37}, {'connected_gene': 'SLC22A23', 'score': 0.29}]

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