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
ENST00000433301 [[110939459, 110939535], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110952854, 110952961], [110956480, 110956511]] None
ENST00000409246 [[110940004, 110940159], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110950583, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110969889]] [[110943520, 110943577], [110944383, 110944498], [110950583, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110968458]]
ENST00000392672 [[110940043, 110940188], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110950583, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110968438], [110969378, 110969891]] [[110940142, 110940188], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110950583, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110968438], [110969378, 110969434]]
ENST00000409300 [[110940095, 110940188], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110950583, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110969889]] [[110940142, 110940188], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110950583, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110968458]]
ENST00000409425 [[110940095, 110940181], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110950583, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110969891]] [[110943520, 110943577], [110944383, 110944498], [110950583, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110968458]]
ENST00000409778 [[110940118, 110940188], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110969378, 110969809]] [[110940142, 110940188], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110969378, 110969486]]
ENST00000409461 [[110940132, 110940188], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110945881, 110945946]] None
ENST00000358071 [[110940135, 110940181], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110949232, 110949388], [110950583, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110969891]] [[110943520, 110943577], [110944383, 110944498], [110949232, 110949324]]
ENST00000447044 [[110940147, 110940244], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110949232, 110949299]] None
NM_001286531 [[110940004, 110940159], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110950583, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110969891]] [[110943520, 110943577], [110944383, 110944498], [110950583, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110968458]]
NM_001286532 [[110940004, 110940181], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110950583, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110969891]] [[110943520, 110943577], [110944383, 110944498], [110950583, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110968458]]
NM_001286533 [[110940004, 110940181], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110949232, 110949388], [110950583, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110969891]] [[110950669, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110968458]]
NM_001286536 [[110940004, 110940188], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110969378, 110969891]] [[110940142, 110940188], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110969378, 110969486]]
NM_152442 [[110940004, 110940188], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110950583, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110968438], [110969378, 110969891]] [[110940142, 110940188], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110950583, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110968438], [110969378, 110969434]]
NM_001286535 [[110940004, 110940188], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110950583, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110969891]] [[110940142, 110940188], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110950583, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110968458]]
NM_001286534 [[110940147, 110940244], [110941610, 110941681], [110943421, 110943577], [110944383, 110944498], [110949232, 110949388], [110950583, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110969891]] [[110950669, 110950683], [110952854, 110952961], [110956480, 110956587], [110956678, 110956743], [110957598, 110957721], [110959981, 110960216], [110968329, 110968458]]
Promoter
Chrom Start End Description
chr12 110940089 110940100 CAGE_peak_7_at_RAD9B_5end
chr12 110940111 110940142 CAGE_peak_2_at_RAD9B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I110531 110531490 110532531 1 [{'connected_gene': 'TCTN1', 'score': 10.98}, {'connected_gene': 'VPS29', 'score': 0.31}, {'connected_gene': 'RAD9B', 'score': 0.29}, {'connected_gene': 'PPTC7', 'score': 0.23}]
chr12 GH12I110499 110499048 110503028 2.13 [{'connected_gene': 'VPS29', 'score': 550.77}, {'connected_gene': 'RAD9B', 'score': 550.77}, {'connected_gene': 'ENSG00000278993', 'score': 550.77}, {'connected_gene': 'IFT81', 'score': 51.74}, {'connected_gene': 'ARPC3', 'score': 23.57}, {'connected_gene': 'FAM216A', 'score': 23.52}, {'connected_gene': 'ANAPC7', 'score': 19.92}, {'connected_gene': 'GPN3', 'score': 11.53}, {'connected_gene': 'RNU4-32P', 'score': 10.98}, {'connected_gene': 'HSPA8P14', 'score': 10.97}, {'connected_gene': 'ANKRD13A', 'score': 10.95}, {'connected_gene': 'TCHP', 'score': 9.69}, {'connected_gene': 'GC12M110497', 'score': 0.77}, {'connected_gene': 'ENSG00000202335', 'score': 0.77}]
chr12 GH12I110512 110512401 110512645 0.85 [{'connected_gene': 'GPN3', 'score': 36.66}, {'connected_gene': 'RAD9B', 'score': 0.39}, {'connected_gene': 'VPS29', 'score': 0.39}, {'connected_gene': 'PPTC7', 'score': 0.19}]
chr12 GH12I110078 110078800 110080477 1.72 [{'connected_gene': 'ARPC3', 'score': 22.94}, {'connected_gene': 'RNU4-32P', 'score': 21.66}, {'connected_gene': 'IFT81', 'score': 10.91}, {'connected_gene': 'ALKBH2', 'score': 10.63}, {'connected_gene': 'UBE3B', 'score': 9.81}, {'connected_gene': 'C12orf76', 'score': 3.64}, {'connected_gene': 'RAD9B', 'score': 2.67}, {'connected_gene': 'GIT2', 'score': 1.52}, {'connected_gene': 'GC12P110058', 'score': 0.34}]