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
ENST00000356708 [[7830091, 7830226], [7838083, 7838118], [7839009, 7839141], [7840952, 7841157], [7841734, 7841878], [7841989, 7842054], [7844232, 7844388], [7844720, 7844817], [7848936, 7848973], [7849621, 7849778]] [[7830170, 7830226], [7838083, 7838118], [7839009, 7839141], [7840952, 7841157], [7841734, 7841878], [7841989, 7842054], [7844232, 7844388], [7844720, 7844817], [7848936, 7848943]]
ENST00000493053 [[7830109, 7830226], [7839009, 7839141], [7840952, 7841157], [7841734, 7841878], [7841989, 7842054], [7844232, 7844388], [7844720, 7844817], [7848936, 7848973], [7849621, 7849764]] None
ENST00000462760 [[7830121, 7830226], [7838083, 7838551]] None
ENST00000460362 [[7830137, 7830226], [7838083, 7838118], [7838568, 7838858]] None
ENST00000541227 [[7830139, 7830226], [7839009, 7839141], [7840952, 7841157], [7841734, 7841878], [7841989, 7842054], [7844232, 7844388], [7844720, 7844838]] [[7839059, 7839141], [7840952, 7841157], [7841734, 7841878], [7841989, 7842054], [7844232, 7844388], [7844720, 7844821]]
ENST00000335698 [[7830139, 7830226], [7838083, 7838118], [7839009, 7839141], [7840952, 7841157], [7841734, 7841878], [7841989, 7842054], [7844232, 7844388], [7844720, 7844817], [7849621, 7849778]] [[7830170, 7830226], [7838083, 7838118], [7839009, 7839141], [7840952, 7841157], [7841734, 7841878], [7841989, 7842054], [7844232, 7844388], [7844720, 7844817], [7849621, 7849625]]
ENST00000465936 [[7830141, 7830226], [7838083, 7838118], [7848936, 7848973], [7849621, 7849756]] None
ENST00000460820 [[7830146, 7830226], [7838083, 7838118], [7839009, 7839141], [7840952, 7841157], [7841734, 7841878], [7841989, 7842015], [7844247, 7844374]] None
ENST00000472202 [[7830172, 7830226], [7838083, 7838118], [7839009, 7839141], [7840952, 7841513]] None
ENST00000473809 [[7842014, 7842054], [7843475, 7843532], [7844232, 7844388], [7844720, 7844817], [7848936, 7848973], [7849621, 7849764]] None
ENST00000480528 [[7844205, 7844388], [7844720, 7844817], [7848936, 7848973], [7849621, 7849764]] None
Promoter
Chrom Start End Description
chr10 7830112 7830121 CAGE_peak_2_at_ATP5C1_5end
chr10 7830125 7830151 CAGE_peak_1_at_ATP5C1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I007817 7817578 7819853 2.08 [{'connected_gene': 'TAF3', 'score': 550.77}, {'connected_gene': 'ATP5F1C', 'score': 15.15}, {'connected_gene': 'ITIH2', 'score': 5.08}, {'connected_gene': 'GC10M007828', 'score': 0.39}]
chr10 GH10I007872 7872201 7872600 0.87 [{'connected_gene': 'TAF3', 'score': 10.83}, {'connected_gene': 'KIN', 'score': 9.89}, {'connected_gene': 'ATP5F1C', 'score': 5.23}, {'connected_gene': 'GC10P007866', 'score': 0.44}, {'connected_gene': 'GC10M007907', 'score': 0.26}]
chr10 GH10I007665 7665307 7668215 2.42 [{'connected_gene': 'ITIH5', 'score': 563.73}, {'connected_gene': 'ATP5F1C', 'score': 4.84}, {'connected_gene': 'GC10M007594', 'score': 0.2}]
chr10 GH10I007860 7860274 7860648 0.22 [{'connected_gene': 'ATP5F1C', 'score': 10.46}, {'connected_gene': 'GC10P007866', 'score': 0.44}, {'connected_gene': 'ENSG00000233990', 'score': 0.31}, {'connected_gene': 'TAF3', 'score': 0.26}]
chr10 GH10I007909 7908958 7909107 0.82 [{'connected_gene': 'ATP5F1C', 'score': 5.47}, {'connected_gene': 'GC10M007907', 'score': 0.44}, {'connected_gene': 'GC10P007866', 'score': 0.26}, {'connected_gene': 'TAF3', 'score': 0.16}]
chr10 GH10I007903 7903581 7904464 0.2 [{'connected_gene': 'ATP5F1C', 'score': 4.9}, {'connected_gene': 'GC10M007907', 'score': 0.39}, {'connected_gene': 'GC10P007866', 'score': 0.28}, {'connected_gene': 'TAF3', 'score': 0.17}]
chr10 GH10I007857 7857201 7857400 0.31 [{'connected_gene': 'ATP5F1C', 'score': 9.61}, {'connected_gene': 'GC10P007866', 'score': 0.44}, {'connected_gene': 'ENSG00000233990', 'score': 0.34}, {'connected_gene': 'TAF3', 'score': 0.28}]
chr10 GH10I007651 7651647 7652807 0.2 [{'connected_gene': 'ATP5F1C', 'score': 6.21}, {'connected_gene': 'ITIH5', 'score': 0.39}, {'connected_gene': 'GC10M007594', 'score': 0.23}]
chr10 GH10I007786 7786719 7790872 2.01 [{'connected_gene': 'ATP5F1C', 'score': 565.6}, {'connected_gene': 'KIN', 'score': 560.58}, {'connected_gene': 'ITIH2', 'score': 6.98}, {'connected_gene': 'GC10M007790', 'score': 0.44}]
chr10 GH10I007767 7767148 7767818 0.31 [{'connected_gene': 'KIN', 'score': 12.71}, {'connected_gene': 'ATP5F1C', 'score': 12.71}, {'connected_gene': 'GC10P007759', 'score': 0.44}]
chr10 GH10I008272 8272569 8273514 0.46 [{'connected_gene': 'LINC00708', 'score': 7.04}, {'connected_gene': 'ATP5F1C', 'score': 5.92}, {'connected_gene': 'GC10M008036', 'score': 0.44}, {'connected_gene': 'GC10M008037', 'score': 0.44}]
chr10 GH10I007796 7796770 7799076 0.83 [{'connected_gene': 'GC10M007790', 'score': 550.77}, {'connected_gene': 'ITIH2', 'score': 16.88}, {'connected_gene': 'GC10P007806', 'score': 0.44}, {'connected_gene': 'ATP5F1C', 'score': 0.44}, {'connected_gene': 'PIR42243', 'score': 0.44}]
chr10 GH10I007794 7794732 7796508 0.76 [{'connected_gene': 'GC10M007790', 'score': 550.77}, {'connected_gene': 'ITIH2', 'score': 13.57}, {'connected_gene': 'ATP5F1C', 'score': 0.44}]

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