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
ENST00000534695 [[43333512, 43333746], [43340189, 43340351], [43361773, 43361776], [43364065, 43364226]] [[43333677, 43333746], [43340189, 43340351], [43361773, 43361776], [43364065, 43364203]]
ENST00000455725 [[43333527, 43333746], [43339970, 43340032], [43340189, 43340351], [43342370, 43342464], [43342960, 43343026], [43343534, 43343686], [43344979, 43345186], [43348056, 43348161], [43349338, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357544], [43363977, 43364530]] [[43339996, 43340032], [43340189, 43340351], [43342370, 43342464], [43342960, 43343026], [43343534, 43343686], [43344979, 43345186], [43348056, 43348161], [43349338, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357544], [43363977, 43364060]]
ENST00000530300 [[43333538, 43333746], [43340189, 43340534]] None
ENST00000531273 [[43333538, 43333746], [43340189, 43340351], [43342370, 43342464], [43342960, 43343026], [43343534, 43343686], [43344979, 43345186], [43348056, 43348161], [43349338, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357544], [43363977, 43364214]] [[43333677, 43333746], [43340189, 43340351], [43342370, 43342464], [43342960, 43343026], [43343534, 43343686], [43344979, 43345186], [43348056, 43348161], [43349338, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357544], [43363977, 43364060]]
ENST00000420461 [[43333547, 43333746], [43342370, 43342464], [43342960, 43343026], [43343534, 43343686], [43344979, 43345186], [43348056, 43348161], [43349338, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357544], [43363982, 43364531]] [[43333677, 43333746], [43342370, 43342464], [43342960, 43343026], [43343534, 43343686], [43344979, 43345186], [43348056, 43348161], [43349338, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357544], [43363982, 43364005]]
ENST00000378852 [[43333552, 43333746], [43340189, 43340351], [43342370, 43342464], [43342960, 43343026], [43343534, 43343686], [43344979, 43345186], [43348056, 43348161], [43349338, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357544], [43363982, 43366079]] [[43333677, 43333746], [43340189, 43340351], [43342370, 43342464], [43342960, 43343026], [43343534, 43343686], [43344979, 43345186], [43348056, 43348161], [43349338, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357544], [43363982, 43364005]]
ENST00000534600 [[43333645, 43333746], [43340189, 43340351], [43342370, 43342464], [43342960, 43343026], [43343534, 43343686], [43344979, 43345186], [43348056, 43348161], [43349338, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357780]] [[43333677, 43333746], [43340189, 43340351], [43342370, 43342464], [43342960, 43343026], [43343534, 43343686], [43344979, 43345186], [43348056, 43348161], [43349338, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357585]]
ENST00000526394 [[43343593, 43343686], [43344979, 43345186], [43349338, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357490]] [[43343593, 43343686], [43344979, 43345186], [43349338, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357490]]
ENST00000532267 [[43351535, 43351608], [43352057, 43352114], [43357407, 43357614]] None
ENST00000529932 [[43351782, 43352114], [43356827, 43356904], [43357407, 43357771]] None
ENST00000529334 [[43356828, 43356904], [43357407, 43357544], [43360790, 43360923]] None
NM_001142931 [[43333504, 43333746], [43342370, 43342464], [43342960, 43343026], [43343534, 43343686], [43344979, 43345186], [43348056, 43348161], [43349338, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357544], [43363982, 43366080]] [[43333677, 43333746], [43342370, 43342464], [43342960, 43343026], [43343534, 43343686], [43344979, 43345186], [43348056, 43348161], [43349338, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357544], [43363982, 43364005]]
NM_001243747 [[43333504, 43333746], [43340189, 43340351], [43342370, 43342464], [43342960, 43343013], [43349380, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357544], [43363982, 43366080]] [[43333677, 43333746], [43340189, 43340351], [43342370, 43342464], [43342960, 43343013], [43349380, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357544], [43363982, 43364005]]
NM_006595 [[43333504, 43333746], [43340189, 43340351], [43342370, 43342464], [43342960, 43343026], [43343534, 43343686], [43344979, 43345186], [43348056, 43348161], [43349338, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357544], [43363982, 43366080]] [[43333677, 43333746], [43340189, 43340351], [43342370, 43342464], [43342960, 43343026], [43343534, 43343686], [43344979, 43345186], [43348056, 43348161], [43349338, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357544], [43363982, 43364005]]
NM_001142930 [[43333504, 43333746], [43340189, 43340351], [43342370, 43342464], [43342960, 43343026], [43343534, 43343686], [43344979, 43345186], [43348056, 43348161], [43349338, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357544], [43363977, 43366080]] [[43333677, 43333746], [43340189, 43340351], [43342370, 43342464], [43342960, 43343026], [43343534, 43343686], [43344979, 43345186], [43348056, 43348161], [43349338, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357544], [43363977, 43364060]]
NR_024625 [[43333504, 43333746], [43339970, 43340032], [43340189, 43340351], [43342370, 43342464], [43342960, 43343026], [43343534, 43343686], [43344979, 43345186], [43348056, 43348161], [43349338, 43349428], [43350261, 43350443], [43351514, 43351608], [43352057, 43352114], [43356827, 43356904], [43357407, 43357544], [43363977, 43366080]] None
Promoter
Chrom Start End Description
chr11 43333513 43333608 CAGE_peak_1_at_API5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I043375 43375838 43377311 0.66 [{'connected_gene': 'API5', 'score': 5.09}, {'connected_gene': 'ENSG00000255340', 'score': 0.44}, {'connected_gene': 'ENSG00000254907', 'score': 0.37}, {'connected_gene': 'TTC17', 'score': 0.37}]
chr11 GH11I043311 43311331 43313746 2.05 [{'connected_gene': 'API5', 'score': 556.36}, {'connected_gene': 'HSD17B12', 'score': 4.59}, {'connected_gene': 'ENSG00000252652', 'score': 0.37}]
chr11 GH11I043409 43409683 43411527 0.62 [{'connected_gene': 'TTC17', 'score': 5.18}, {'connected_gene': 'API5', 'score': 5.01}, {'connected_gene': 'ENSG00000254577', 'score': 0.34}, {'connected_gene': 'RN7SKP287', 'score': 0.34}]
chr11 GH11I043338 43338646 43339003 0.25 [{'connected_gene': 'TTC17', 'score': 1.64}, {'connected_gene': 'ENSG00000252652', 'score': 0.44}, {'connected_gene': 'ENSG00000254907', 'score': 0.34}, {'connected_gene': 'API5', 'score': 0.31}]
chr11 GH11I043357 43357913 43360918 2.06 [{'connected_gene': 'TTC17', 'score': 564.54}, {'connected_gene': 'ENSG00000254907', 'score': 550.77}, {'connected_gene': 'SEC14L1P1', 'score': 11.57}, {'connected_gene': 'ALKBH3', 'score': 10.48}, {'connected_gene': 'ACCS', 'score': 10.11}, {'connected_gene': 'EXT2', 'score': 9.98}, {'connected_gene': 'API5', 'score': 6.46}, {'connected_gene': 'ENSG00000255340', 'score': 0.31}]
chr11 GH11I043268 43268051 43269875 0.38 [{'connected_gene': 'HNRNPKP3', 'score': 550.77}, {'connected_gene': 'API5', 'score': 6.73}, {'connected_gene': 'TTC17', 'score': 5.38}, {'connected_gene': 'ENSG00000254725', 'score': 0.08}]
chr11 GH11I043904 43904592 43907143 1.19 [{'connected_gene': 'ALKBH3', 'score': 27.9}, {'connected_gene': 'LOC105376644', 'score': 21.51}, {'connected_gene': 'PPIAP41', 'score': 17.1}, {'connected_gene': 'API5', 'score': 16.68}, {'connected_gene': 'TTC17', 'score': 10.87}, {'connected_gene': 'SEC14L1P1', 'score': 0.44}, {'connected_gene': 'ALKBH3-AS1', 'score': 0.37}]
chr11 GH11I043366 43366273 43368242 0.97 [{'connected_gene': 'ENSG00000254577', 'score': 11.34}, {'connected_gene': 'API5', 'score': 4.94}, {'connected_gene': 'ENSG00000254907', 'score': 0.44}, {'connected_gene': 'TTC17', 'score': 0.44}, {'connected_gene': 'ENSG00000255340', 'score': 0.37}]
chr11 GH11I043327 43327668 43329137 0.62 [{'connected_gene': 'ENSG00000252652', 'score': 0.77}, {'connected_gene': 'API5', 'score': 0.37}, {'connected_gene': 'ENSG00000254907', 'score': 0.29}]

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