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
ENST00000453168 [[31574129, 31574804], [31617887, 31617996], [31621300, 31621588], [31638289, 31638355], [31641851, 31641951], [31656596, 31656695], [31658420, 31658567], [31659431, 31659480], [31661277, 31661322], [31661456, 31661766]] None
ENST00000295770 [[31574281, 31574804], [31617887, 31617996], [31621300, 31621588], [31638289, 31638355], [31641851, 31641951], [31656596, 31656695], [31658420, 31658567], [31659431, 31659480], [31661167, 31661322], [31663588, 31663800], [31665165, 31665353], [31666405, 31666577], [31667445, 31667619], [31670789, 31670903], [31674426, 31674639], [31677475, 31679112]] [[31574490, 31574804], [31617887, 31617996], [31621300, 31621588], [31638289, 31638355], [31641851, 31641951], [31656596, 31656695], [31658420, 31658567], [31659431, 31659480], [31661167, 31661322], [31663588, 31663800], [31665165, 31665353], [31666405, 31666577], [31667445, 31667619], [31670789, 31670903], [31674426, 31674639], [31677475, 31677556]]
ENST00000423527 [[31574463, 31574804], [31617887, 31617996], [31621300, 31621588], [31638289, 31638355], [31641851, 31641951], [31656596, 31656695], [31658420, 31658567], [31659431, 31659480], [31661167, 31661322], [31661456, 31661766]] None
ENST00000462235 [[31575116, 31575178], [31617887, 31617996], [31621300, 31621588], [31638289, 31638355], [31641851, 31641951], [31656596, 31656695], [31658420, 31658497]] None
ENST00000436236 [[31638297, 31638355], [31641851, 31641951], [31656596, 31656695], [31658420, 31658567], [31659431, 31659480], [31661167, 31661788]] None
ENST00000463044 [[31667552, 31667619], [31670789, 31670903], [31674426, 31674676], [31677475, 31677956]] None
ENST00000488151 [[31670742, 31670903], [31674426, 31674639], [31677475, 31677537]] None
NM_178862 [[31573992, 31574804], [31617887, 31617996], [31621300, 31621588], [31638289, 31638355], [31641851, 31641951], [31656596, 31656695], [31658420, 31658567], [31659431, 31659480], [31661167, 31661322], [31663588, 31663800], [31665165, 31665353], [31666405, 31666577], [31667445, 31667619], [31670789, 31670903], [31674426, 31674639], [31677475, 31679114]] [[31574490, 31574804], [31617887, 31617996], [31621300, 31621588], [31638289, 31638355], [31641851, 31641951], [31656596, 31656695], [31658420, 31658567], [31659431, 31659480], [31661167, 31661322], [31663588, 31663800], [31665165, 31665353], [31666405, 31666577], [31667445, 31667619], [31670789, 31670903], [31674426, 31674639], [31677475, 31677556]]
Promoter
Chrom Start End Description
chr3 31573628 31573666 CAGE_peak_9_at_STT3B_5end
chr3 31574008 31574019 CAGE_peak_8_at_STT3B_5end
chr3 31574036 31574045 CAGE_peak_12_at_STT3B_5end
chr3 31574066 31574107 CAGE_peak_3_at_STT3B_5end
chr3 31574110 31574146 CAGE_peak_4_at_STT3B_5end
chr3 31574148 31574159 CAGE_peak_7_at_STT3B_5end
chr3 31574189 31574200 CAGE_peak_6_at_STT3B_5end
chr3 31574393 31574447 CAGE_peak_1_at_STT3B_5end
chr3 31574452 31574476 CAGE_peak_2_at_STT3B_5end
chr3 31574480 31574491 CAGE_peak_5_at_STT3B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I032121 32121001 32121200 0.62 [{'connected_gene': 'GLB1', 'score': 12.23}, {'connected_gene': 'TMPPE', 'score': 11.78}, {'connected_gene': 'CNOT10', 'score': 10.96}, {'connected_gene': 'STT3B', 'score': 10.63}, {'connected_gene': 'ENSG00000236732', 'score': 10.21}, {'connected_gene': 'GPD1L', 'score': 6.72}, {'connected_gene': 'GC03M031988', 'score': 0.06}]
chr3 GH03I031444 31444071 31445776 0.56 [{'connected_gene': 'STT3B', 'score': 16.15}, {'connected_gene': 'THRAP3P1', 'score': 0.44}, {'connected_gene': 'GC03M031421', 'score': 0.37}]
chr3 GH03I031443 31443778 31443842 0.2 [{'connected_gene': 'STT3B', 'score': 10.41}, {'connected_gene': 'THRAP3P1', 'score': 0.44}, {'connected_gene': 'GC03M031421', 'score': 0.37}]
chr3 GH03I031445 31445829 31445978 0.52 [{'connected_gene': 'STT3B', 'score': 10.59}, {'connected_gene': 'THRAP3P1', 'score': 0.44}, {'connected_gene': 'GC03M031421', 'score': 0.37}]
chr3 GH03I031490 31490604 31491044 0.43 [{'connected_gene': 'STT3B', 'score': 7.13}, {'connected_gene': 'LOC105377019', 'score': 0.31}, {'connected_gene': 'GC03P031518', 'score': 0.31}, {'connected_gene': 'GC03M031490', 'score': 0.29}]
chr3 GH03I031504 31504949 31507355 0.6 [{'connected_gene': 'STT3B', 'score': 11.71}, {'connected_gene': 'GC03P031518', 'score': 0.39}, {'connected_gene': 'GC03M031490', 'score': 0.37}, {'connected_gene': 'LOC105377019', 'score': 0.26}]
chr3 GH03I031486 31486819 31487424 0.86 [{'connected_gene': 'STT3B', 'score': 17.75}, {'connected_gene': 'LOC105377019', 'score': 0.34}, {'connected_gene': 'GC03P031518', 'score': 0.29}]
chr3 GH03I030619 30619351 30651144 1.39 [{'connected_gene': 'STT3B', 'score': 10.63}, {'connected_gene': 'ENSG00000224618', 'score': 0.44}, {'connected_gene': 'LOC105377016', 'score': 0.37}, {'connected_gene': 'TGFBR2', 'score': 0.31}, {'connected_gene': 'GC03M030649', 'score': 0.26}]
chr3 GH03I031221 31221496 31223285 0.2 [{'connected_gene': 'STT3B', 'score': 10.85}, {'connected_gene': 'RNA5SP127', 'score': 0.44}, {'connected_gene': 'LOC105377018', 'score': 0.37}]
chr3 GH03I031231 31231668 31233794 1.03 [{'connected_gene': 'STT3B', 'score': 10.77}, {'connected_gene': 'RNA5SP127', 'score': 0.77}, {'connected_gene': 'GC03P031244', 'score': 0.39}]
chr3 GH03I031234 31234717 31235841 0.58 [{'connected_gene': 'STT3B', 'score': 10.77}, {'connected_gene': 'RNA5SP127', 'score': 0.44}, {'connected_gene': 'GC03P031244', 'score': 0.44}]
chr3 GH03I031235 31234200 31234538 0.83 [{'connected_gene': 'STT3B', 'score': 10.77}, {'connected_gene': 'RNA5SP127', 'score': 0.44}, {'connected_gene': 'GC03P031244', 'score': 0.44}]
chr3 GH03I031232 31231001 31231200 0.51 [{'connected_gene': 'STT3B', 'score': 10.77}, {'connected_gene': 'RNA5SP127', 'score': 0.77}, {'connected_gene': 'GC03P031244', 'score': 0.39}]
chr3 GH03I031165 31165209 31167472 1.31 [{'connected_gene': 'STT3B', 'score': 1.37}, {'connected_gene': 'MIR466', 'score': 0.77}, {'connected_gene': 'CNN2P6', 'score': 0.37}]
chr3 GH03I031538 31538815 31540953 0.46 [{'connected_gene': 'STT3B', 'score': 5.16}, {'connected_gene': 'GC03M031530', 'score': 0.44}, {'connected_gene': 'GC03P031521', 'score': 0.37}, {'connected_gene': 'GC03M031604', 'score': 0.18}]
chr3 GH03I031423 31423045 31424360 0.72 [{'connected_gene': 'STT3B', 'score': 10.85}, {'connected_gene': 'GC03M031421', 'score': 0.77}, {'connected_gene': 'GC03M031400', 'score': 0.37}]
chr3 GH03I031370 31370929 31371078 0.64 [{'connected_gene': 'STT3B', 'score': 10.23}, {'connected_gene': 'GC03M031394', 'score': 0.34}, {'connected_gene': 'ENSG00000230111', 'score': 0.15}]
chr3 GH03I031371 31370709 31370858 0.62 [{'connected_gene': 'STT3B', 'score': 10.23}, {'connected_gene': 'GC03M031394', 'score': 0.34}, {'connected_gene': 'ENSG00000230111', 'score': 0.15}]
chr3 GH03I031564 31564606 31567466 0.72 [{'connected_gene': 'STT3B', 'score': 11.73}, {'connected_gene': 'GC03M031530', 'score': 0.29}, {'connected_gene': 'GC03M031604', 'score': 0.23}]
chr3 GH03I031572 31572219 31574455 0.38 [{'connected_gene': 'STT3B', 'score': 11.46}, {'connected_gene': 'GC03M031530', 'score': 0.26}, {'connected_gene': 'GC03M031604', 'score': 0.25}]
chr3 GH03I031581 31581298 31583204 0.2 [{'connected_gene': 'STT3B', 'score': 11.57}, {'connected_gene': 'GC03M031604', 'score': 0.28}, {'connected_gene': 'GC03M031530', 'score': 0.25}]
chr3 GH03I031528 31528390 31529136 0.2 [{'connected_gene': 'STT3B', 'score': 0.77}, {'connected_gene': 'GC03P031521', 'score': 0.44}, {'connected_gene': 'GC03M031490', 'score': 0.44}]
chr3 GH03I031273 31273840 31276309 1.25 [{'connected_gene': 'STT3B', 'score': 10.18}, {'connected_gene': 'ENSG00000230111', 'score': 0.44}, {'connected_gene': 'GC03P031244', 'score': 0.29}, {'connected_gene': 'GC03M031394', 'score': 0.13}]
chr3 GH03I031535 31535597 31538020 0.59 [{'connected_gene': 'STT3B', 'score': 5.41}, {'connected_gene': 'GC03M031530', 'score': 0.77}, {'connected_gene': 'GC03P031521', 'score': 0.39}, {'connected_gene': 'GC03M031604', 'score': 0.18}]
chr3 GH03I031592 31592251 31593620 0.81 [{'connected_gene': 'STT3B', 'score': 10.84}, {'connected_gene': 'GC03M031604', 'score': 0.31}, {'connected_gene': 'GC03M031530', 'score': 0.21}]
chr3 GH03I031461 31461525 31463455 0.95 [{'connected_gene': 'LOC105377019', 'score': 550.77}, {'connected_gene': 'STT3B', 'score': 17.77}, {'connected_gene': 'THRAP3P1', 'score': 0.44}]
chr3 GH03I031594 31594542 31596688 0.2 [{'connected_gene': 'OSBPL10-AS1', 'score': 10.74}, {'connected_gene': 'OSBPL10', 'score': 10.64}, {'connected_gene': 'GC03M031604', 'score': 0.31}, {'connected_gene': 'GC03M031530', 'score': 0.21}, {'connected_gene': 'STT3B', 'score': 0.21}]
chr3 GH03I031224 31224517 31229622 1.33 [{'connected_gene': 'RNA5SP127', 'score': 550.77}, {'connected_gene': 'STT3B', 'score': 12.98}, {'connected_gene': 'LOC105377018', 'score': 0.34}]
chr3 GH03I031230 31230259 31230823 0.77 [{'connected_gene': 'RNA5SP127', 'score': 550.77}, {'connected_gene': 'STT3B', 'score': 10.77}, {'connected_gene': 'GC03P031244', 'score': 0.39}]
chr3 GH03I031530 31530334 31535401 2.31 [{'connected_gene': 'GC03M031530', 'score': 550.77}, {'connected_gene': 'STT3B', 'score': 550.77}, {'connected_gene': 'ZNF860', 'score': 10.0}, {'connected_gene': 'CMTM6', 'score': 9.75}, {'connected_gene': 'GC03P031521', 'score': 0.39}, {'connected_gene': 'GC03M031604', 'score': 0.17}]
chr3 GH03I031543 31543474 31543867 0.65 [{'connected_gene': 'GC03M031530', 'score': 0.39}, {'connected_gene': 'STT3B', 'score': 0.39}, {'connected_gene': 'GC03P031521', 'score': 0.34}, {'connected_gene': 'GC03M031604', 'score': 0.18}]
chr3 GH03I031270 31270215 31271794 0.59 [{'connected_gene': 'ENSG00000230111', 'score': 550.77}, {'connected_gene': 'STT3B', 'score': 10.67}, {'connected_gene': 'ENSG00000236732', 'score': 9.94}, {'connected_gene': 'GC03P031244', 'score': 0.31}, {'connected_gene': 'GC03M031394', 'score': 0.13}]
chr3 GH03I031541 31541189 31541338 0.63 [{'connected_gene': 'GC03M031530', 'score': 0.44}, {'connected_gene': 'STT3B', 'score': 0.44}, {'connected_gene': 'GC03P031521', 'score': 0.37}, {'connected_gene': 'GC03M031604', 'score': 0.18}]
chr3 GH03I031634 31634248 31637806 0.63 [{'connected_gene': 'PIR58590', 'score': 0.37}, {'connected_gene': 'GC03M031604', 'score': 0.37}, {'connected_gene': 'STT3B', 'score': 0.15}]
chr3 GH03I031563 31562201 31562400 0.2 [{'connected_gene': 'GC03M031530', 'score': 0.31}, {'connected_gene': 'STT3B', 'score': 0.31}, {'connected_gene': 'GC03M031604', 'score': 0.22}]
chr3 GH03I031142 31142229 31143094 0.31 [{'connected_gene': 'GC03P031143', 'score': 550.77}, {'connected_gene': 'GC03P031144', 'score': 550.77}, {'connected_gene': 'STT3B', 'score': 9.8}, {'connected_gene': 'GC03P031137', 'score': 0.77}]
chr3 GH03I031551 31551328 31552376 0.46 [{'connected_gene': 'GC03M031530', 'score': 0.37}, {'connected_gene': 'STT3B', 'score': 0.37}, {'connected_gene': 'GC03M031604', 'score': 0.2}]
chr3 GH03I031565 31563801 31564000 0.2 [{'connected_gene': 'GC03M031530', 'score': 0.29}, {'connected_gene': 'STT3B', 'score': 0.29}, {'connected_gene': 'GC03M031604', 'score': 0.22}]
chr3 GH03I031544 31544499 31545199 1 [{'connected_gene': 'GC03M031530', 'score': 0.39}, {'connected_gene': 'STT3B', 'score': 0.39}, {'connected_gene': 'GC03M031604', 'score': 0.18}]
chr3 GH03I031546 31546924 31548223 0.94 [{'connected_gene': 'GC03M031530', 'score': 0.39}, {'connected_gene': 'STT3B', 'score': 0.37}, {'connected_gene': 'GC03M031604', 'score': 0.19}]
chr3 GH03I031545 31545401 31546800 0.63 [{'connected_gene': 'GC03M031530', 'score': 0.39}, {'connected_gene': 'STT3B', 'score': 0.39}, {'connected_gene': 'GC03M031604', 'score': 0.19}]
chr3 GH03I031550 31550809 31550958 0.74 [{'connected_gene': 'GC03M031530', 'score': 0.37}, {'connected_gene': 'STT3B', 'score': 0.37}, {'connected_gene': 'GC03M031604', 'score': 0.19}]
chr3 GH03I031562 31562589 31562798 0.46 [{'connected_gene': 'GC03M031530', 'score': 0.31}, {'connected_gene': 'STT3B', 'score': 0.29}, {'connected_gene': 'GC03M031604', 'score': 0.22}]