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
ENST00000340353 [[86748885, 86749228], [86778735, 86778863], [86782564, 86782657], [86802403, 86802437], [86947679, 86947726], [87006823, 87006865], [87013337, 87013484], [87016977, 87017047], [87020546, 87020714], [87024466, 87024530], [87025512, 87025589], [87029178, 87029277], [87030351, 87030419], [87032242, 87034800]] [[86749087, 86749228], [86778735, 86778863], [86782564, 86782657], [86802403, 86802437], [86947679, 86947726], [87006823, 87006865], [87013337, 87013484], [87016977, 87017047], [87020546, 87020714], [87024466, 87024530], [87025512, 87025589], [87029178, 87029277], [87030351, 87030419], [87032242, 87032375]]
ENST00000532959 [[86748991, 86749133], [86868382, 86868448], [86947679, 86947726], [87006823, 87006865], [87013337, 87013484], [87016977, 87017047], [87020546, 87020714], [87024466, 87024530], [87025512, 87025589], [87029178, 87029277], [87030351, 87030419], [87032242, 87032401]] [[86749124, 86749133], [86868382, 86868448], [86947679, 86947726], [87006823, 87006865], [87013337, 87013484], [87016977, 87017047], [87020546, 87020714], [87024466, 87024530], [87025512, 87025589], [87029178, 87029277], [87030351, 87030419], [87032242, 87032375]]
ENST00000305494 [[86749048, 86749228], [86778735, 86778863], [86782564, 86782657], [86802403, 86802437], [86868382, 86868448], [86947679, 86947726], [87006823, 87006865], [87013337, 87013484], [87016977, 87017047], [87020546, 87020714], [87024466, 87024530], [87025512, 87025589], [87029178, 87029277], [87030351, 87030419], [87032242, 87033392]] [[86749087, 86749228], [86778735, 86778863], [86782564, 86782657], [86802403, 86802437], [86868382, 86868448], [86947679, 86947726], [87006823, 87006865], [87013337, 87013484], [87016977, 87017047], [87020546, 87020714], [87024466, 87024530], [87025512, 87025589], [87029178, 87029277], [87030351, 87030419], [87032242, 87032375]]
ENST00000535167 [[86749081, 86749228], [86778735, 86778863], [86782564, 86782657], [86868382, 86868448], [86947679, 86947726], [87006823, 87006865], [87013337, 87013484], [87016977, 87017047], [87020546, 87020714], [87024466, 87024530], [87025512, 87025589], [87029178, 87029277], [87030351, 87030419], [87032242, 87032528]] [[86868403, 86868448], [86947679, 86947726], [87006823, 87006865], [87013337, 87013484], [87016977, 87017047], [87020546, 87020714], [87024466, 87024530], [87025512, 87025589], [87029178, 87029277], [87030351, 87030419], [87032242, 87032375]]
ENST00000531643 [[87029176, 87029277], [87030351, 87030419], [87032242, 87033392]] None
ENST00000528861 [[87030108, 87030419], [87032242, 87033077]] None
ENST00000529023 [[86748933, 86749228], [86778735, 86778863], [86782564, 86782657], [86802403, 86802437], [86868382, 86868927]] None
ENST00000526733 [[86748962, 86749228], [86778735, 86778863], [86802403, 86802437], [86868382, 86868450]] [[86749087, 86749228], [86778735, 86778863], [86802403, 86802437], [86868382, 86868450]]
ENST00000355734 [[86749026, 86749228], [86778735, 86778863], [86782564, 86782657], [86802403, 86802437], [86889498, 86890366]] [[86749087, 86749228], [86778735, 86778863], [86782564, 86782657], [86802403, 86802437], [86889498, 86889585]]
ENST00000525018 [[86749026, 86749228], [86778735, 86778863], [86782564, 86782657], [86802403, 86802437], [86988194, 86988490]] [[86749087, 86749228], [86778735, 86778863], [86782564, 86782657], [86802403, 86802437], [86988194, 86988490]]
ENST00000531800 [[86782558, 86782657], [86802403, 86802437], [86868382, 86868450]] None
NR_033149 [[86748885, 86749228], [86778735, 86778863], [86782564, 86782657], [86868382, 86868448], [86947679, 86947726], [87006823, 87006865], [87013337, 87013484], [87016977, 87017047], [87020546, 87020714], [87024466, 87024530], [87025512, 87025589], [87029178, 87029277], [87030351, 87030419], [87032242, 87039876]] None
NM_001168724 [[86748885, 86749228], [86778735, 86778863], [86782564, 86782657], [86802403, 86802437], [86947679, 86947726], [87006823, 87006865], [87013337, 87013484], [87016977, 87017047], [87020546, 87020714], [87024466, 87024530], [87025512, 87025589], [87029178, 87029277], [87030351, 87030419], [87032242, 87039876]] [[86749087, 86749228], [86778735, 86778863], [86782564, 86782657], [86802403, 86802437], [86947679, 86947726], [87006823, 87006865], [87013337, 87013484], [87016977, 87017047], [87020546, 87020714], [87024466, 87024530], [87025512, 87025589], [87029178, 87029277], [87030351, 87030419], [87032242, 87032375]]
NM_022918 [[86748885, 86749228], [86778735, 86778863], [86782564, 86782657], [86802403, 86802437], [86868382, 86868448], [86947679, 86947726], [87006823, 87006865], [87013337, 87013484], [87016977, 87017047], [87020546, 87020714], [87024466, 87024530], [87025512, 87025589], [87029178, 87029277], [87030351, 87030419], [87032242, 87039876]] [[86749087, 86749228], [86778735, 86778863], [86782564, 86782657], [86802403, 86802437], [86868382, 86868448], [86947679, 86947726], [87006823, 87006865], [87013337, 87013484], [87016977, 87017047], [87020546, 87020714], [87024466, 87024530], [87025512, 87025589], [87029178, 87029277], [87030351, 87030419], [87032242, 87032375]]
Promoter
Chrom Start End Description
chr11 86748863 86748948 CAGE_peak_3_at_TMEM135_5end
chr11 86748957 86748996 CAGE_peak_2_at_TMEM135_5end
chr11 86748998 86749020 CAGE_peak_4_at_TMEM135_5end
chr11 86749035 86749087 CAGE_peak_1_at_TMEM135_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I087081 87081226 87082053 0.54 [{'connected_gene': 'EED', 'score': 9.81}, {'connected_gene': 'TMEM135', 'score': 5.17}, {'connected_gene': 'XIAPP2', 'score': 0.39}]
chr11 GH11I087254 87254306 87255230 0.31 [{'connected_gene': 'FZD4', 'score': 8.95}, {'connected_gene': 'GC11M087259', 'score': 0.77}, {'connected_gene': 'GC11P087232', 'score': 0.34}, {'connected_gene': 'TMEM135', 'score': 0.08}]
chr11 GH11I086920 86920565 86920923 0.44 [{'connected_gene': 'FZD4', 'score': 3.07}, {'connected_gene': 'ME3', 'score': 1.6}, {'connected_gene': 'TMEM135', 'score': 1.29}, {'connected_gene': 'ENSG00000255471', 'score': 0.77}, {'connected_gene': 'ENSG00000280339', 'score': 0.44}, {'connected_gene': 'PRSS23', 'score': 0.13}]
chr11 GH11I087028 87028400 87029777 0.84 [{'connected_gene': 'TMEM135', 'score': 4.97}, {'connected_gene': 'ME3', 'score': 4.24}, {'connected_gene': 'HNRNPCP8', 'score': 0.77}, {'connected_gene': 'LOC105369422', 'score': 0.44}]
chr11 GH11I087036 87036397 87039463 2.06 [{'connected_gene': 'TMEM135', 'score': 555.8}, {'connected_gene': 'LOC105369422', 'score': 550.77}, {'connected_gene': 'XIAPP2', 'score': 0.22}]
chr11 GH11I087037 87036079 87036228 0.66 [{'connected_gene': 'TMEM135', 'score': 550.77}, {'connected_gene': 'LOC105369422', 'score': 550.77}, {'connected_gene': 'HNRNPCP8', 'score': 0.39}]
chr11 GH11I087030 87030601 87031000 0.99 [{'connected_gene': 'TMEM135', 'score': 4.94}, {'connected_gene': 'HNRNPCP8', 'score': 0.44}, {'connected_gene': 'LOC105369422', 'score': 0.44}]
chr11 GH11I086937 86937841 86943328 1.39 [{'connected_gene': 'CCDC81', 'score': 7.26}, {'connected_gene': 'LOC100506368', 'score': 6.01}, {'connected_gene': 'ENSG00000255471', 'score': 5.54}, {'connected_gene': 'TMEM135', 'score': 5.3}, {'connected_gene': 'FZD4', 'score': 0.39}, {'connected_gene': 'PRSS23', 'score': 0.11}]
chr11 GH11I087284 87284419 87284568 0.2 [{'connected_gene': 'LOC101929104', 'score': 0.31}, {'connected_gene': 'LOC100420680', 'score': 0.28}, {'connected_gene': 'TMEM135', 'score': 0.07}]
chr11 GH11I087290 87290439 87290548 0.62 [{'connected_gene': 'LOC100420680', 'score': 0.29}, {'connected_gene': 'LOC101929104', 'score': 0.29}, {'connected_gene': 'TMEM135', 'score': 0.07}]
chr11 GH11I087300 87300739 87300888 0.43 [{'connected_gene': 'LOC100420680', 'score': 0.34}, {'connected_gene': 'LOC101929104', 'score': 0.26}, {'connected_gene': 'TMEM135', 'score': 0.07}]
chr11 GH11I087291 87291340 87292183 0.46 [{'connected_gene': 'LOC100420680', 'score': 0.29}, {'connected_gene': 'LOC101929104', 'score': 0.29}, {'connected_gene': 'TMEM135', 'score': 0.07}]
chr11 GH11I087301 87301059 87301208 0.54 [{'connected_gene': 'LOC100420680', 'score': 0.34}, {'connected_gene': 'LOC101929104', 'score': 0.26}, {'connected_gene': 'TMEM135', 'score': 0.07}]
chr11 GH11I087281 87281180 87282280 0.85 [{'connected_gene': 'ENSG00000255471', 'score': 10.6}, {'connected_gene': 'FZD4', 'score': 9.64}, {'connected_gene': 'LOC101929104', 'score': 0.34}, {'connected_gene': 'LOC100420680', 'score': 0.26}, {'connected_gene': 'TMEM135', 'score': 0.07}]
chr11 GH11I087019 87019242 87021102 0.31 [{'connected_gene': 'GC11M086989', 'score': 550.77}, {'connected_gene': 'TMEM135', 'score': 4.86}, {'connected_gene': 'LOC105369422', 'score': 0.37}, {'connected_gene': 'GC11P086992', 'score': 0.31}]
chr11 GH11I087148 87148239 87148388 0.2 [{'connected_gene': 'GC11P087140', 'score': 0.44}, {'connected_gene': 'GC11P087232', 'score': 0.18}, {'connected_gene': 'TMEM135', 'score': 0.14}]
chr11 GH11I087173 87173069 87174295 1 [{'connected_gene': 'GC11P087140', 'score': 0.29}, {'connected_gene': 'GC11P087232', 'score': 0.22}, {'connected_gene': 'TMEM135', 'score': 0.12}]
chr11 GH11I087130 87130117 87130181 0.25 [{'connected_gene': 'GC11P087126', 'score': 0.77}, {'connected_gene': 'GC11P087140', 'score': 0.39}, {'connected_gene': 'TMEM135', 'score': 0.16}]
chr11 GH11I087097 87097387 87098565 1.06 [{'connected_gene': 'GC11M087089', 'score': 550.77}, {'connected_gene': 'XIAPP2', 'score': 550.77}, {'connected_gene': 'ENSG00000279836', 'score': 0.34}, {'connected_gene': 'TMEM135', 'score': 0.21}]