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
ENST00000527606 [[125461606, 125461782], [125465775, 125465898], [125466953, 125467014], [125472197, 125472319], [125472697, 125472784]] [[125465810, 125465898], [125466953, 125467014], [125472197, 125472319], [125472697, 125472784]]
ENST00000392708 [[125462689, 125462813], [125465775, 125465898], [125466953, 125467014], [125472197, 125472319], [125472697, 125472843], [125474051, 125474142], [125475523, 125475630], [125476195, 125476360], [125478003, 125478184], [125479328, 125479484], [125481322, 125481414], [125482486, 125482642], [125482883, 125483072], [125483981, 125484098], [125484218, 125484321], [125488267, 125488456], [125489905, 125490021], [125490666, 125492986]] [[125465810, 125465898], [125466953, 125467014], [125472197, 125472319], [125472697, 125472843], [125474051, 125474142], [125475523, 125475630], [125476195, 125476360], [125478003, 125478184], [125479328, 125479484], [125481322, 125481414], [125482486, 125482642], [125482883, 125483072], [125483981, 125484098], [125484218, 125484321], [125488267, 125488456], [125489905, 125490021], [125490666, 125490705]]
ENST00000534472 [[125462713, 125462813], [125465775, 125465898], [125466953, 125467014], [125472197, 125472319], [125472697, 125472843], [125474051, 125474142], [125475523, 125475630], [125476195, 125476360], [125478003, 125478184], [125479328, 125479793]] None
ENST00000529196 [[125462730, 125462813], [125463532, 125463620], [125465775, 125465898], [125466953, 125467014], [125472197, 125472319], [125472697, 125472843], [125474051, 125474142], [125475523, 125475630], [125476195, 125476360], [125478003, 125478184], [125479328, 125479484], [125481322, 125481414], [125482486, 125482642], [125482883, 125483072], [125483981, 125484098], [125484218, 125484321], [125488267, 125488456], [125489905, 125490021], [125490666, 125490783]] [[125465810, 125465898], [125466953, 125467014], [125472197, 125472319], [125472697, 125472843], [125474051, 125474142], [125475523, 125475630], [125476195, 125476360], [125478003, 125478184], [125479328, 125479484], [125481322, 125481414], [125482486, 125482642], [125482883, 125483072], [125483981, 125484098], [125484218, 125484321], [125488267, 125488456], [125489905, 125490021], [125490666, 125490705]]
ENST00000531491 [[125462761, 125462813], [125466953, 125467014], [125472197, 125472319], [125472697, 125472843], [125474051, 125474142], [125475523, 125475630], [125476195, 125476360], [125478003, 125478184], [125479328, 125479484], [125481322, 125481414], [125482486, 125482642], [125482883, 125483072], [125483981, 125484098], [125484218, 125484321], [125488267, 125488456], [125489905, 125490021], [125490666, 125490783]] [[125472702, 125472843], [125474051, 125474142], [125475523, 125475630], [125476195, 125476360], [125478003, 125478184], [125479328, 125479484], [125481322, 125481414], [125482486, 125482642], [125482883, 125483072], [125483981, 125484098], [125484218, 125484321], [125488267, 125488456], [125489905, 125490021], [125490666, 125490705]]
ENST00000525652 [[125463063, 125463327], [125465775, 125465898], [125466953, 125467014], [125472197, 125472319], [125472697, 125472734]] [[125465810, 125465898], [125466953, 125467014], [125472197, 125472319], [125472697, 125472734]]
ENST00000529886 [[125464757, 125464911], [125465775, 125465898], [125466953, 125467014], [125472197, 125472319], [125472697, 125472779]] [[125465810, 125465898], [125466953, 125467014], [125472197, 125472319], [125472697, 125472779]]
ENST00000526213 [[125472651, 125472843], [125474051, 125474142], [125475523, 125475630], [125476195, 125476360]] None
ENST00000527456 [[125473271, 125473389], [125474051, 125474142], [125475523, 125475630], [125476195, 125476360]] None
ENST00000525431 [[125476104, 125476360], [125478003, 125478299]] None
ENST00000526726 [[125476307, 125476360], [125478003, 125478138], [125479328, 125479484], [125482486, 125482642], [125482883, 125482965]] [[125476307, 125476360], [125478003, 125478138], [125479328, 125479484], [125482486, 125482642], [125482883, 125482965]]
ENST00000531001 [[125478042, 125478184], [125479328, 125479484], [125479604, 125479631]] None
ENST00000524639 [[125479313, 125479484], [125481322, 125481414], [125482486, 125482642], [125482883, 125483046]] None
ENST00000531599 [[125480603, 125481268], [125482486, 125482642], [125482883, 125483035]] None
ENST00000525946 [[125483578, 125484098], [125484218, 125484321], [125488267, 125488456], [125489905, 125490021], [125490666, 125491121]] None
ENST00000526364 [[125488412, 125488456], [125489905, 125490021], [125491300, 125491414], [125494767, 125495110]] None
NM_001278504 [[125462689, 125462813], [125466953, 125467014], [125472197, 125472319], [125472697, 125472843], [125474051, 125474142], [125475523, 125475630], [125476195, 125476360], [125478003, 125478184], [125479328, 125479484], [125481322, 125481414], [125482486, 125482642], [125482883, 125483072], [125483981, 125484098], [125484218, 125484321], [125488267, 125488456], [125489905, 125490021], [125490666, 125492654]] [[125472702, 125472843], [125474051, 125474142], [125475523, 125475630], [125476195, 125476360], [125478003, 125478184], [125479328, 125479484], [125481322, 125481414], [125482486, 125482642], [125482883, 125483072], [125483981, 125484098], [125484218, 125484321], [125488267, 125488456], [125489905, 125490021], [125490666, 125490705]]
NM_152713 [[125462689, 125462813], [125465775, 125465898], [125466953, 125467014], [125472197, 125472319], [125472697, 125472843], [125474051, 125474142], [125475523, 125475630], [125476195, 125476360], [125478003, 125478184], [125479328, 125479484], [125481322, 125481414], [125482486, 125482642], [125482883, 125483072], [125483981, 125484098], [125484218, 125484321], [125488267, 125488456], [125489905, 125490021], [125490666, 125492654]] [[125465810, 125465898], [125466953, 125467014], [125472197, 125472319], [125472697, 125472843], [125474051, 125474142], [125475523, 125475630], [125476195, 125476360], [125478003, 125478184], [125479328, 125479484], [125481322, 125481414], [125482486, 125482642], [125482883, 125483072], [125483981, 125484098], [125484218, 125484321], [125488267, 125488456], [125489905, 125490021], [125490666, 125490705]]
NM_001278503 [[125462689, 125462813], [125463532, 125463620], [125465775, 125465898], [125466953, 125467014], [125472197, 125472319], [125472697, 125472843], [125474051, 125474142], [125475523, 125475630], [125476195, 125476360], [125478003, 125478184], [125479328, 125479484], [125481322, 125481414], [125482486, 125482642], [125482883, 125483072], [125483981, 125484098], [125484218, 125484321], [125488267, 125488456], [125489905, 125490021], [125490666, 125492654]] [[125465810, 125465898], [125466953, 125467014], [125472197, 125472319], [125472697, 125472843], [125474051, 125474142], [125475523, 125475630], [125476195, 125476360], [125478003, 125478184], [125479328, 125479484], [125481322, 125481414], [125482486, 125482642], [125482883, 125483072], [125483981, 125484098], [125484218, 125484321], [125488267, 125488456], [125489905, 125490021], [125490666, 125490705]]
Promoter
Chrom Start End Description
chr11 125461650 125461670 CAGE_peak_7_at_STT3A_5end
chr11 125461713 125461724 CAGE_peak_32_at_STT3A_5end
chr11 125462725 125462768 CAGE_peak_1_at_STT3A_5end
chr11 125462771 125462784 CAGE_peak_2_at_STT3A_5end
chr11 125464851 125464858 CAGE_peak_45_at_STT3A_5end
chr11 125472230 125472256 CAGE_peak_4_at_STT3A_5end
chr11 125472775 125472802 CAGE_peak_8_at_STT3A_5end
chr11 125479344 125479364 CAGE_peak_3_at_STT3A_5end
chr11 125483999 125484015 CAGE_peak_6_at_STT3A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I125273 125273825 125273974 1.01 [{'connected_gene': 'MSANTD2', 'score': 20.61}, {'connected_gene': 'TMEM218', 'score': 14.73}, {'connected_gene': 'ENSG00000254509', 'score': 14.19}, {'connected_gene': 'ENSG00000254694', 'score': 12.23}, {'connected_gene': 'STT3A', 'score': 11.71}, {'connected_gene': 'CDON', 'score': 9.98}, {'connected_gene': 'GC11M125262', 'score': 0.77}, {'connected_gene': 'RNU6-321P', 'score': 0.77}, {'connected_gene': 'PKNOX2', 'score': 0.14}]
chr11 GH11I126210 126210529 126213526 2.02 [{'connected_gene': 'FAM118B', 'score': 570.85}, {'connected_gene': 'RPUSD4', 'score': 550.77}, {'connected_gene': 'FOXRED1', 'score': 70.67}, {'connected_gene': 'ENSG00000254694', 'score': 12.97}, {'connected_gene': 'STT3A', 'score': 11.68}, {'connected_gene': 'SRPRA', 'score': 10.76}, {'connected_gene': 'CDON', 'score': 10.06}, {'connected_gene': 'RNU4-86P', 'score': 0.77}]
chr11 GH11I124642 124642816 124645294 1.35 [{'connected_gene': 'ZNF202', 'score': 33.22}, {'connected_gene': 'MSANTD2', 'score': 28.67}, {'connected_gene': 'TMEM218', 'score': 25.22}, {'connected_gene': 'STT3A', 'score': 20.31}, {'connected_gene': 'ENSG00000254509', 'score': 14.26}, {'connected_gene': 'SPA17', 'score': 12.06}, {'connected_gene': 'OR8A1', 'score': 3.11}, {'connected_gene': 'OR8B4', 'score': 2.92}, {'connected_gene': 'OR8D1', 'score': 2.37}, {'connected_gene': 'OR8G1', 'score': 1.48}, {'connected_gene': 'OR8D2', 'score': 1.32}, {'connected_gene': 'OR8B12', 'score': 1.31}, {'connected_gene': 'OR8B8', 'score': 1.19}, {'connected_gene': 'RNA5SP352', 'score': 0.44}, {'connected_gene': 'SIAE', 'score': 0.23}]
chr11 GH11I126350 126350337 126361823 2.44 [{'connected_gene': 'ST3GAL4', 'score': 561.62}, {'connected_gene': 'GSEC', 'score': 550.77}, {'connected_gene': 'HP11014', 'score': 46.58}, {'connected_gene': 'TIRAP', 'score': 37.84}, {'connected_gene': 'STT3A', 'score': 30.19}, {'connected_gene': 'FOXRED1', 'score': 15.3}, {'connected_gene': 'DCPS', 'score': 11.91}, {'connected_gene': 'FAM118B', 'score': 9.93}, {'connected_gene': 'ENSG00000278215', 'score': 0.34}]
chr11 GH11I125163 125163085 125171701 2.12 [{'connected_gene': 'PKNOX2', 'score': 550.77}, {'connected_gene': 'CCDC15', 'score': 14.73}, {'connected_gene': 'MSANTD2', 'score': 13.39}, {'connected_gene': 'ENSG00000255475', 'score': 11.73}, {'connected_gene': 'LOC105369549', 'score': 10.88}, {'connected_gene': 'TMEM218', 'score': 10.5}, {'connected_gene': 'RNU6-321P', 'score': 10.35}, {'connected_gene': 'STT3A', 'score': 9.95}, {'connected_gene': 'ENSG00000254509', 'score': 9.81}, {'connected_gene': 'DDX25', 'score': 5.34}, {'connected_gene': 'KRT18P59', 'score': 4.89}, {'connected_gene': 'ENSG00000254941', 'score': 4.69}, {'connected_gene': 'PKNOX2-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000259290', 'score': 0.34}]
chr11 GH11I126060 126060635 126064105 2.24 [{'connected_gene': 'CDON', 'score': 556.09}, {'connected_gene': 'TIRAP', 'score': 27.29}, {'connected_gene': 'STT3A', 'score': 25.54}, {'connected_gene': 'TMEM218', 'score': 25.1}, {'connected_gene': 'FEZ1', 'score': 11.29}, {'connected_gene': 'SRPRA', 'score': 10.12}, {'connected_gene': 'PIR48177', 'score': 0.23}]
chr11 GH11I125597 125597010 125597069 0.5 [{'connected_gene': 'STT3A', 'score': 550.44}, {'connected_gene': 'CHEK1', 'score': 12.08}, {'connected_gene': 'EI24', 'score': 11.43}, {'connected_gene': 'RNU6-1156P', 'score': 11.13}, {'connected_gene': 'STT3A-AS1', 'score': 0.77}]
chr11 GH11I125591 125591163 125594304 2.08 [{'connected_gene': 'STT3A', 'score': 562.43}, {'connected_gene': 'STT3A-AS1', 'score': 550.77}, {'connected_gene': 'HP11014', 'score': 38.61}, {'connected_gene': 'TMEM218', 'score': 22.92}, {'connected_gene': 'CHEK1', 'score': 22.75}, {'connected_gene': 'MSANTD2', 'score': 20.59}, {'connected_gene': 'ENSG00000254509', 'score': 14.18}, {'connected_gene': 'TIRAP', 'score': 12.38}, {'connected_gene': 'ENSG00000254694', 'score': 12.23}, {'connected_gene': 'EI24', 'score': 11.93}, {'connected_gene': 'CDON', 'score': 10.0}, {'connected_gene': 'DDX25', 'score': 7.52}, {'connected_gene': 'FEZ1', 'score': 5.59}, {'connected_gene': 'PUS3', 'score': 4.47}]
chr11 GH11I126339 126339374 126350222 1.64 [{'connected_gene': 'DCPS', 'score': 21.02}, {'connected_gene': 'FOXRED1', 'score': 18.43}, {'connected_gene': 'TIRAP', 'score': 16.08}, {'connected_gene': 'FAM118B', 'score': 13.82}, {'connected_gene': 'STT3A', 'score': 13.33}, {'connected_gene': 'HP11014', 'score': 12.24}, {'connected_gene': 'ST3GAL4', 'score': 7.23}, {'connected_gene': 'GC11P126349', 'score': 0.77}, {'connected_gene': 'PIR55528', 'score': 0.44}, {'connected_gene': 'GSEC', 'score': 0.39}]
chr11 GH11I126437 126437737 126438691 0.59 [{'connected_gene': 'TIRAP', 'score': 18.47}, {'connected_gene': 'STT3A', 'score': 15.18}, {'connected_gene': 'DCPS', 'score': 11.72}, {'connected_gene': 'HP11014', 'score': 11.72}, {'connected_gene': 'ST3GAL4', 'score': 11.15}, {'connected_gene': 'SRPRA', 'score': 10.14}, {'connected_gene': 'LOC105369558', 'score': 9.33}, {'connected_gene': 'ENSG00000278215', 'score': 0.21}, {'connected_gene': 'KIRREL3-AS1', 'score': 0.14}, {'connected_gene': 'KIRREL3', 'score': 0.03}]
chr11 GH11I125621 125621712 125622683 0.57 [{'connected_gene': 'CHEK1', 'score': 10.58}, {'connected_gene': 'FEZ1', 'score': 5.43}, {'connected_gene': 'STT3A-AS1', 'score': 0.31}, {'connected_gene': 'STT3A', 'score': 0.29}]
chr11 GH11I125624 125624374 125627766 2.11 [{'connected_gene': 'CHEK1', 'score': 562.92}, {'connected_gene': 'HP11014', 'score': 35.3}, {'connected_gene': 'TMEM218', 'score': 34.82}, {'connected_gene': 'TIRAP', 'score': 26.43}, {'connected_gene': 'MSANTD2', 'score': 21.8}, {'connected_gene': 'FEZ1', 'score': 15.73}, {'connected_gene': 'STT3A', 'score': 13.6}, {'connected_gene': 'CCDC15', 'score': 12.93}, {'connected_gene': 'ACRV1', 'score': 4.89}, {'connected_gene': 'PUS3', 'score': 4.8}, {'connected_gene': 'RNU2-35P', 'score': 0.34}]
chr11 GH11I125594 125594801 125595400 0.38 [{'connected_gene': 'RNU6-1156P', 'score': 11.93}, {'connected_gene': 'EI24', 'score': 11.9}, {'connected_gene': 'CHEK1', 'score': 11.86}, {'connected_gene': 'DDX25', 'score': 8.88}, {'connected_gene': 'FEZ1', 'score': 5.64}, {'connected_gene': 'STT3A-AS1', 'score': 0.77}, {'connected_gene': 'STT3A', 'score': 0.77}]
chr11 GH11I125267 125267847 125273729 1 [{'connected_gene': 'GC11M125262', 'score': 550.77}, {'connected_gene': 'MSANTD2', 'score': 20.61}, {'connected_gene': 'TMEM218', 'score': 14.74}, {'connected_gene': 'ENSG00000254509', 'score': 14.2}, {'connected_gene': 'ENSG00000254694', 'score': 12.23}, {'connected_gene': 'STT3A', 'score': 11.71}, {'connected_gene': 'CDON', 'score': 9.98}, {'connected_gene': 'RNU6-321P', 'score': 0.44}, {'connected_gene': 'PKNOX2', 'score': 0.14}]
chr11 GH11I125886 125886706 125888810 2.01 [{'connected_gene': 'GC11P125889', 'score': 550.77}, {'connected_gene': 'HYLS1', 'score': 550.77}, {'connected_gene': 'PIR58536', 'score': 550.77}, {'connected_gene': 'HP11014', 'score': 10.98}, {'connected_gene': 'TMEM218', 'score': 10.3}, {'connected_gene': 'STT3A', 'score': 9.96}, {'connected_gene': 'DDX25', 'score': 6.36}, {'connected_gene': 'CHEK1', 'score': 6.36}, {'connected_gene': 'PUS3', 'score': 4.62}, {'connected_gene': 'PIR36090', 'score': 0.39}]

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