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
ENST00000261336 [[9301435, 9301590], [9302156, 9302198], [9303239, 9303342], [9304199, 9304268], [9304815, 9304906], [9305419, 9305547], [9305720, 9305939], [9307211, 9307435], [9309770, 9309951], [9310362, 9310437], [9311015, 9311172], [9312533, 9312621], [9312909, 9313086], [9313628, 9313712], [9315192, 9315244], [9316263, 9316385], [9316728, 9316855], [9317734, 9317963], [9318647, 9318798], [9321464, 9321570], [9322025, 9322187], [9333578, 9333728], [9334570, 9334713], [9344788, 9344852], [9345107, 9345335], [9346672, 9346834], [9348925, 9349035], [9349166, 9349281], [9349607, 9349719], [9352959, 9353044], [9353487, 9353656], [9353922, 9353943], [9354914, 9354967], [9355120, 9355280], [9356363, 9356547], [9360854, 9360966]] [[9301567, 9301590], [9302156, 9302198], [9303239, 9303342], [9304199, 9304268], [9304815, 9304906], [9305419, 9305547], [9305720, 9305939], [9307211, 9307435], [9309770, 9309951], [9310362, 9310437], [9311015, 9311172], [9312533, 9312621], [9312909, 9313086], [9313628, 9313712], [9315192, 9315244], [9316263, 9316385], [9316728, 9316855], [9317734, 9317963], [9318647, 9318798], [9321464, 9321570], [9322025, 9322187], [9333578, 9333728], [9334570, 9334713], [9344788, 9344852], [9345107, 9345335], [9346672, 9346834], [9348925, 9349035], [9349166, 9349281], [9349607, 9349719], [9352959, 9353044], [9353487, 9353656], [9353922, 9353943], [9354914, 9354967], [9355120, 9355280], [9356363, 9356547], [9360854, 9360937]]
ENST00000381997 [[9301436, 9301590], [9302156, 9302198], [9303239, 9303342], [9304199, 9304268], [9304815, 9304906], [9305419, 9305547], [9305720, 9305939], [9307211, 9307435], [9309770, 9309951], [9310362, 9310437], [9311015, 9311172], [9312533, 9312621], [9312909, 9313086], [9313628, 9313712], [9315192, 9315244], [9317734, 9317963], [9318647, 9318798], [9321464, 9321570], [9322025, 9322187], [9333578, 9333728], [9334570, 9334713], [9344788, 9344852], [9345107, 9345335], [9346672, 9346834], [9348925, 9349035], [9349166, 9349281], [9349607, 9349719], [9352959, 9353044], [9353487, 9353656], [9353922, 9353943], [9354914, 9355001]] [[9301567, 9301590], [9302156, 9302198], [9303239, 9303342], [9304199, 9304268], [9304815, 9304906], [9305419, 9305547], [9305720, 9305939], [9307211, 9307435], [9309770, 9309951], [9310362, 9310437], [9311015, 9311172], [9312533, 9312621], [9312909, 9313086], [9313628, 9313712], [9315192, 9315244], [9317734, 9317963], [9318647, 9318798], [9321464, 9321570], [9322025, 9322187], [9333578, 9333728], [9334570, 9334713], [9344788, 9344852], [9345107, 9345335], [9346672, 9346834], [9348925, 9349035], [9349166, 9349281], [9349607, 9349719], [9352959, 9353044], [9353487, 9353656], [9353922, 9353943], [9354914, 9355001]]
ENST00000535230 [[9301527, 9301590], [9302156, 9302198], [9303239, 9303342], [9304199, 9304268], [9304815, 9304906], [9305419, 9305547], [9305720, 9305939], [9307211, 9307435], [9309770, 9309951], [9310362, 9310437], [9311015, 9311172], [9312533, 9312621], [9312909, 9313086], [9313628, 9313712], [9315192, 9315244], [9317734, 9317963], [9318647, 9318798], [9321464, 9321570], [9322025, 9322187], [9333578, 9333728], [9334570, 9334713], [9344788, 9344852], [9345107, 9345335], [9346672, 9346834], [9348925, 9349035], [9349166, 9349281], [9349607, 9349719], [9352959, 9353044], [9353487, 9353656], [9353922, 9353943], [9354914, 9355280], [9356363, 9356547], [9360854, 9360961]] [[9355112, 9355280], [9356363, 9356547], [9360854, 9360937]]
ENST00000539983 [[9313028, 9313086], [9313628, 9313712], [9314876, 9315040], [9315192, 9315244], [9316263, 9316385], [9316728, 9316855], [9317734, 9317963], [9318647, 9318798], [9319576, 9320093]] None
ENST00000546197 [[9313628, 9313712], [9317734, 9317963], [9318647, 9318798], [9321464, 9321570], [9322025, 9322187], [9322377, 9322693]] None
ENST00000540995 [[9316312, 9316385], [9317734, 9317963], [9318647, 9318795], [9320096, 9320129]] None
ENST00000543108 [[9316343, 9316385], [9316728, 9316855], [9317734, 9317963], [9318647, 9318798], [9320096, 9320127]] None
ENST00000546116 [[9321051, 9321570], [9322025, 9322187], [9322644, 9322714]] None
NM_002864 [[9301435, 9301590], [9302156, 9302198], [9303239, 9303342], [9304199, 9304268], [9304815, 9304906], [9305419, 9305547], [9305720, 9305939], [9307211, 9307435], [9309770, 9309951], [9310362, 9310437], [9311015, 9311172], [9312533, 9312621], [9312909, 9313086], [9313628, 9313712], [9315192, 9315244], [9316263, 9316385], [9316728, 9316855], [9317734, 9317963], [9318647, 9318798], [9321464, 9321570], [9322025, 9322187], [9333578, 9333728], [9334570, 9334713], [9344788, 9344852], [9345107, 9345335], [9346672, 9346834], [9348925, 9349035], [9349166, 9349281], [9349607, 9349719], [9352959, 9353044], [9353487, 9353656], [9353922, 9353943], [9354914, 9354967], [9355120, 9355280], [9356363, 9356547], [9360854, 9360966]] [[9301567, 9301590], [9302156, 9302198], [9303239, 9303342], [9304199, 9304268], [9304815, 9304906], [9305419, 9305547], [9305720, 9305939], [9307211, 9307435], [9309770, 9309951], [9310362, 9310437], [9311015, 9311172], [9312533, 9312621], [9312909, 9313086], [9313628, 9313712], [9315192, 9315244], [9316263, 9316385], [9316728, 9316855], [9317734, 9317963], [9318647, 9318798], [9321464, 9321570], [9322025, 9322187], [9333578, 9333728], [9334570, 9334713], [9344788, 9344852], [9345107, 9345335], [9346672, 9346834], [9348925, 9349035], [9349166, 9349281], [9349607, 9349719], [9352959, 9353044], [9353487, 9353656], [9353922, 9353943], [9354914, 9354967], [9355120, 9355280], [9356363, 9356547], [9360854, 9360937]]
Promoter
Chrom Start End Description
chr12 9360984 9360996 CAGE_peak_1_at_PZP_5end
chr12 9360997 9361006 CAGE_peak_2_at_PZP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I009756 9756259 9766298 2.69 [{'connected_gene': 'CD69', 'score': 576.83}, {'connected_gene': 'CLECL1', 'score': 22.54}, {'connected_gene': 'KLRF1', 'score': 17.17}, {'connected_gene': 'CLEC7A', 'score': 15.09}, {'connected_gene': 'OLR1', 'score': 10.55}, {'connected_gene': 'KLRB1', 'score': 8.76}, {'connected_gene': 'CLEC12A', 'score': 8.02}, {'connected_gene': 'ENSG00000213443', 'score': 6.47}, {'connected_gene': 'DDX12P', 'score': 5.72}, {'connected_gene': 'PZP', 'score': 5.15}, {'connected_gene': 'CLEC2B', 'score': 5.09}, {'connected_gene': 'KLRF2', 'score': 4.52}, {'connected_gene': 'GABARAPL1', 'score': 3.49}, {'connected_gene': 'CLEC2D', 'score': 2.99}, {'connected_gene': 'LOC105369653', 'score': 0.44}]
chr12 GH12I009244 9244305 9244454 0.65 [{'connected_gene': 'LOC642846', 'score': 21.57}, {'connected_gene': 'PZP', 'score': 11.15}, {'connected_gene': 'LOC728715', 'score': 5.23}, {'connected_gene': 'PTMAP4', 'score': 0.77}, {'connected_gene': 'ENSG00000256427', 'score': 0.77}, {'connected_gene': 'A2MP1', 'score': 0.29}]
chr12 GH12I009118 9118225 9118494 0.56 [{'connected_gene': 'PZP', 'score': 10.13}, {'connected_gene': 'A2M', 'score': 0.77}, {'connected_gene': 'GC12M009115', 'score': 0.77}]
chr12 GH12I009208 9208385 9208444 0.61 [{'connected_gene': 'PZP', 'score': 550.77}, {'connected_gene': 'GC12P009200', 'score': 0.44}, {'connected_gene': 'MIR1244-3', 'score': 0.29}]
chr12 GH12I009123 9123485 9124000 0.58 [{'connected_gene': 'PZP', 'score': 19.93}, {'connected_gene': 'KRT17P8', 'score': 0.77}, {'connected_gene': 'GC12M009115', 'score': 0.77}]
chr12 GH12I009144 9144765 9144914 0.54 [{'connected_gene': 'PZP', 'score': 10.36}, {'connected_gene': 'GC12M009133', 'score': 0.44}, {'connected_gene': 'GC12M009156', 'score': 0.39}]
chr12 GH12I009240 9240000 9240801 0.88 [{'connected_gene': 'PTMAP4', 'score': 550.77}, {'connected_gene': 'MIR1244-3', 'score': 550.77}, {'connected_gene': 'LINC00987', 'score': 550.77}, {'connected_gene': 'DDX12P', 'score': 15.6}, {'connected_gene': 'PZP', 'score': 11.17}, {'connected_gene': 'LOC642846', 'score': 7.96}, {'connected_gene': 'A2MP1', 'score': 0.28}]
chr12 GH12I009113 9113800 9118143 1.93 [{'connected_gene': 'A2M', 'score': 567.8}, {'connected_gene': 'KLRG1', 'score': 12.1}, {'connected_gene': 'PZP', 'score': 10.13}, {'connected_gene': 'GC12M009115', 'score': 0.77}, {'connected_gene': 'GC12M009066', 'score': 0.26}]
chr12 GH12I009156 9156336 9156722 0.22 [{'connected_gene': 'TPT1P12', 'score': 550.77}, {'connected_gene': 'GC12M009156', 'score': 550.77}, {'connected_gene': 'BTG1P1', 'score': 12.23}, {'connected_gene': 'KRT17P8', 'score': 12.21}, {'connected_gene': 'A2M', 'score': 10.67}, {'connected_gene': 'PZP', 'score': 2.26}, {'connected_gene': 'KLRB1', 'score': 2.01}, {'connected_gene': 'KLRG1', 'score': 1.7}, {'connected_gene': 'M6PR', 'score': 1.63}, {'connected_gene': 'PIR34456', 'score': 0.44}]
chr12 GH12I009134 9134664 9135586 0.74 [{'connected_gene': 'BTG1P1', 'score': 550.77}, {'connected_gene': 'PZP', 'score': 6.25}, {'connected_gene': 'GC12M009133', 'score': 0.77}]
chr12 GH12I009170 9170305 9170434 0.31 [{'connected_gene': 'BTG1P1', 'score': 11.0}, {'connected_gene': 'KRT17P8', 'score': 10.99}, {'connected_gene': 'KLRB1', 'score': 9.02}, {'connected_gene': 'KLRG1', 'score': 6.08}, {'connected_gene': 'GC12P009166', 'score': 0.77}, {'connected_gene': 'GC12P009191', 'score': 0.34}, {'connected_gene': 'PZP', 'score': 0.28}]