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
ENST00000381989 [[24995063, 24995452], [25000603, 25000736], [25005514, 25005614], [25008532, 25009612], [25015983, 25016106], [25016727, 25016823], [25017787, 25017868], [25020818, 25020899], [25021153, 25021324], [25023855, 25023955], [25026543, 25026731], [25027724, 25027792], [25029154, 25029350], [25030478, 25030616], [25033181, 25033260], [25033401, 25033448], [25034109, 25034274], [25043161, 25043248], [25044031, 25044163], [25049609, 25049734], [25051838, 25051995], [25052230, 25052414], [25058790, 25058886], [25060305, 25060443], [25064805, 25064966], [25066558, 25066732], [25067733, 25067871], [25068710, 25068860], [25072253, 25072367], [25073438, 25073514], [25074453, 25074520], [25075770, 25075972], [25077782, 25077915], [25086843, 25086948]] [[24995256, 24995452], [25000603, 25000736], [25005514, 25005614], [25008532, 25009612], [25015983, 25016106], [25016727, 25016823], [25017787, 25017868], [25020818, 25020899], [25021153, 25021324], [25023855, 25023955], [25026543, 25026731], [25027724, 25027792], [25029154, 25029350], [25030478, 25030616], [25033181, 25033260], [25033401, 25033448], [25034109, 25034274], [25043161, 25043248], [25044031, 25044163], [25049609, 25049734], [25051838, 25051995], [25052230, 25052414], [25058790, 25058886], [25060305, 25060443], [25064805, 25064966], [25066558, 25066732], [25067733, 25067871], [25068710, 25068860], [25072253, 25072367], [25073438, 25073514], [25074453, 25074520], [25075770, 25075972]]
ENST00000484989 [[25026109, 25026731], [25027724, 25027792], [25029154, 25029272]] None
ENST00000480576 [[25030534, 25030616], [25033181, 25033260], [25033401, 25033620]] None
NM_006437 [[24995068, 24995452], [25000603, 25000736], [25005514, 25005614], [25008532, 25009612], [25015983, 25016106], [25016727, 25016823], [25017787, 25017868], [25020818, 25020899], [25021153, 25021324], [25023855, 25023955], [25026543, 25026731], [25027724, 25027792], [25029154, 25029350], [25030478, 25030616], [25033181, 25033260], [25033401, 25033448], [25034109, 25034274], [25043161, 25043248], [25044031, 25044163], [25049609, 25049734], [25051838, 25051995], [25052230, 25052414], [25058790, 25058886], [25060305, 25060443], [25064805, 25064966], [25066558, 25066732], [25067733, 25067871], [25068710, 25068860], [25072253, 25072367], [25073438, 25073514], [25074453, 25074520], [25075770, 25075972], [25077782, 25077915], [25086843, 25086948]] [[24995256, 24995452], [25000603, 25000736], [25005514, 25005614], [25008532, 25009612], [25015983, 25016106], [25016727, 25016823], [25017787, 25017868], [25020818, 25020899], [25021153, 25021324], [25023855, 25023955], [25026543, 25026731], [25027724, 25027792], [25029154, 25029350], [25030478, 25030616], [25033181, 25033260], [25033401, 25033448], [25034109, 25034274], [25043161, 25043248], [25044031, 25044163], [25049609, 25049734], [25051838, 25051995], [25052230, 25052414], [25058790, 25058886], [25060305, 25060443], [25064805, 25064966], [25066558, 25066732], [25067733, 25067871], [25068710, 25068860], [25072253, 25072367], [25073438, 25073514], [25074453, 25074520], [25075770, 25075972]]
Promoter
Chrom Start End Description
chr13 25086879 25086929 CAGE_peak_1_at_PARP4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I024910 24910598 24912012 1.11 [{'connected_gene': 'NUP58', 'score': 6.12}, {'connected_gene': 'MTMR6', 'score': 5.56}, {'connected_gene': 'PARP4', 'score': 1.74}, {'connected_gene': 'PABPC3', 'score': 1.35}, {'connected_gene': 'CENPJ', 'score': 0.39}, {'connected_gene': 'GC13P024795', 'score': 0.1}, {'connected_gene': 'PIR31198', 'score': 0.1}]
chr13 GH13I024528 24528903 24529152 0.2 [{'connected_gene': 'RNF17', 'score': 9.87}, {'connected_gene': 'LOC101927375', 'score': 0.39}, {'connected_gene': 'PARP4', 'score': 0.37}, {'connected_gene': 'LOC105370117', 'score': 0.31}, {'connected_gene': 'TPTE2P6', 'score': 0.13}]
chr13 GH13I024667 24667776 24672911 1.1 [{'connected_gene': 'ATP12A', 'score': 15.89}, {'connected_gene': 'RNF17', 'score': 10.48}, {'connected_gene': 'PARP4', 'score': 10.23}, {'connected_gene': 'GC13P024570', 'score': 0.15}]
chr13 GH13I024629 24629654 24631502 0.86 [{'connected_gene': 'ATP12A', 'score': 11.28}, {'connected_gene': 'PARP4', 'score': 10.03}, {'connected_gene': 'TPTE2P6', 'score': 4.88}, {'connected_gene': 'GC13P024570', 'score': 0.21}]
chr13 GH13I024624 24624697 24627392 0.94 [{'connected_gene': 'TPTE2P6', 'score': 14.69}, {'connected_gene': 'ATP12A', 'score': 11.23}, {'connected_gene': 'PARP4', 'score': 10.31}, {'connected_gene': 'RNF17', 'score': 10.05}, {'connected_gene': 'GC13P024570', 'score': 0.22}]
chr13 GH13I024279 24279002 24281648 1.13 [{'connected_gene': 'SPATA13', 'score': 6.43}, {'connected_gene': 'PARP4', 'score': 2.22}, {'connected_gene': 'C1QTNF9', 'score': 0.31}, {'connected_gene': 'SPATA13-AS1', 'score': 0.31}, {'connected_gene': 'ENSG00000273167', 'score': 0.06}]
chr13 GH13I024050 24050084 24051380 1.22 [{'connected_gene': 'SPATA13', 'score': 11.56}, {'connected_gene': 'MIR2276', 'score': 11.51}, {'connected_gene': 'SPATA13-AS1', 'score': 10.79}, {'connected_gene': 'PARP4', 'score': 1.82}, {'connected_gene': 'PIR59399', 'score': 0.39}, {'connected_gene': 'ENSG00000273167', 'score': 0.19}, {'connected_gene': 'IPO7P2', 'score': 0.19}]
chr13 GH13I024063 24063002 24064961 1.07 [{'connected_gene': 'SPATA13', 'score': 11.63}, {'connected_gene': 'MIR2276', 'score': 11.6}, {'connected_gene': 'SPATA13-AS1', 'score': 10.24}, {'connected_gene': 'PARP4', 'score': 5.42}, {'connected_gene': 'PIR59399', 'score': 0.31}, {'connected_gene': 'IPO7P2', 'score': 0.22}, {'connected_gene': 'ENSG00000273167', 'score': 0.18}]
chr13 GH13I024269 24269875 24277172 2.49 [{'connected_gene': 'SPATA13', 'score': 556.02}, {'connected_gene': 'IPO7P2', 'score': 10.49}, {'connected_gene': 'TPTE2P6', 'score': 10.15}, {'connected_gene': 'PARP4', 'score': 3.25}, {'connected_gene': 'SPATA13-AS1', 'score': 0.37}, {'connected_gene': 'C1QTNF9', 'score': 0.29}, {'connected_gene': 'ENSG00000273167', 'score': 0.06}]
chr13 GH13I024715 24715947 24716778 0.31 [{'connected_gene': 'PARP4', 'score': 14.48}, {'connected_gene': 'RNF17', 'score': 10.33}, {'connected_gene': 'ATP12A', 'score': 4.88}, {'connected_gene': 'RPL26P34', 'score': 0.39}, {'connected_gene': 'LOC105370118', 'score': 0.34}]
chr13 GH13I024598 24598041 24598761 0.2 [{'connected_gene': 'PARP4', 'score': 9.62}, {'connected_gene': 'GC13P024570', 'score': 0.31}, {'connected_gene': 'ATP12A', 'score': 0.18}]
chr13 GH13I024450 24450583 24450752 0.2 [{'connected_gene': 'PARP4', 'score': 10.53}, {'connected_gene': 'TPTE2P6', 'score': 0.26}, {'connected_gene': 'LOC105370117', 'score': 0.23}]
chr13 GH13I024506 24506404 24506463 0.76 [{'connected_gene': 'PARP4', 'score': 550.44}, {'connected_gene': 'LOC105370117', 'score': 0.77}, {'connected_gene': 'TPTE2P6', 'score': 0.15}]
chr13 GH13I024511 24510201 24510400 0.31 [{'connected_gene': 'PARP4', 'score': 7.62}, {'connected_gene': 'LOC105370117', 'score': 0.44}, {'connected_gene': 'TPTE2P6', 'score': 0.15}]
chr13 GH13I024510 24510409 24513673 2.07 [{'connected_gene': 'PARP4', 'score': 563.4}, {'connected_gene': 'LOC105370117', 'score': 0.44}, {'connected_gene': 'TPTE2P6', 'score': 0.15}]
chr13 GH13I024508 24508181 24508544 0.27 [{'connected_gene': 'PARP4', 'score': 11.83}, {'connected_gene': 'LOC105370117', 'score': 0.44}, {'connected_gene': 'TPTE2P6', 'score': 0.15}]
chr13 GH13I024459 24459363 24459492 0.46 [{'connected_gene': 'PARP4', 'score': 10.28}, {'connected_gene': 'LOC105370117', 'score': 0.26}, {'connected_gene': 'TPTE2P6', 'score': 0.23}]
chr13 GH13I024505 24505192 24506194 0.73 [{'connected_gene': 'PARP4', 'score': 10.59}, {'connected_gene': 'LOC105370117', 'score': 0.77}, {'connected_gene': 'TPTE2P6', 'score': 0.15}]
chr13 GH13I024262 24262653 24268932 1.24 [{'connected_gene': 'PARP4', 'score': 10.7}, {'connected_gene': 'SPATA13-AS1', 'score': 0.39}, {'connected_gene': 'C1QTNF9', 'score': 0.26}, {'connected_gene': 'SPATA13', 'score': 0.06}, {'connected_gene': 'ENSG00000273167', 'score': 0.06}]
chr13 GH13I024495 24495263 24495412 0.43 [{'connected_gene': 'LOC105370117', 'score': 0.44}, {'connected_gene': 'PARP4', 'score': 0.37}, {'connected_gene': 'TPTE2P6', 'score': 0.17}]
chr13 GH13I024500 24500233 24501837 0.43 [{'connected_gene': 'LOC105370117', 'score': 550.77}, {'connected_gene': 'PARP4', 'score': 8.34}, {'connected_gene': 'TPTE2P6', 'score': 0.16}]
chr13 GH13I024502 24502307 24503731 0.82 [{'connected_gene': 'LOC105370117', 'score': 550.77}, {'connected_gene': 'PARP4', 'score': 11.28}, {'connected_gene': 'C1QTNF9', 'score': 5.2}, {'connected_gene': 'TPTE2P6', 'score': 0.16}]
chr13 GH13I024540 24540744 24542301 1 [{'connected_gene': 'LOC101927375', 'score': 550.77}, {'connected_gene': 'LOC105370295', 'score': 550.77}, {'connected_gene': 'TPTE2P6', 'score': 17.92}, {'connected_gene': 'PARP4', 'score': 11.87}, {'connected_gene': 'RNF17', 'score': 2.8}]
chr13 GH13I024074 24074390 24076869 1.18 [{'connected_gene': 'MIR2276', 'score': 11.1}, {'connected_gene': 'SPATA13', 'score': 11.09}, {'connected_gene': 'PARP4', 'score': 5.54}, {'connected_gene': 'PIR59399', 'score': 0.28}, {'connected_gene': 'IPO7P2', 'score': 0.25}, {'connected_gene': 'ENSG00000273167', 'score': 0.15}]