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
ENST00000554659 [[68113791, 68118198], [68120153, 68120215], [68123132, 68123306], [68126447, 68126639], [68129193, 68129252], [68141091, 68141548]] [[68118101, 68118198], [68120153, 68120215], [68123132, 68123306], [68126447, 68126639], [68129193, 68129252], [68141091, 68141206]]
ENST00000554636 [[68117868, 68118198], [68123132, 68123306], [68126447, 68126508]] [[68118048, 68118198], [68123132, 68123306], [68126447, 68126508]]
ENST00000556461 [[68117977, 68118198], [68120153, 68120215], [68123128, 68123306], [68126447, 68126562]] [[68120198, 68120215], [68123128, 68123306], [68126447, 68126562]]
ENST00000216456 [[68117980, 68118198], [68120153, 68120215], [68123132, 68123306], [68126447, 68126639], [68129193, 68129252], [68129745, 68129907], [68141091, 68141327]] [[68129887, 68129907], [68141091, 68141206]]
ENST00000553619 [[68123196, 68123306], [68126447, 68126911]] None
ENST00000555543 [[68123226, 68123306], [68126447, 68126639], [68141091, 68141537]] [[68126574, 68126639], [68141091, 68141206]]
NM_006370 [[68117865, 68118198], [68120153, 68120215], [68123132, 68123306], [68126447, 68126639], [68129193, 68129252], [68141091, 68141602]] [[68118101, 68118198], [68120153, 68120215], [68123132, 68123306], [68126447, 68126639], [68129193, 68129252], [68141091, 68141206]]
Promoter
Chrom Start End Description
chr14 68141300 68141368 CAGE_peak_1_at_VTI1B_5end
chr14 68141535 68141574 CAGE_peak_2_at_VTI1B_5end
chr14 68141596 68141637 CAGE_peak_3_at_VTI1B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I067709 67709410 67710533 0.66 [{'connected_gene': 'RDH11', 'score': 13.15}, {'connected_gene': 'PIGH', 'score': 11.75}, {'connected_gene': 'ENSG00000201529', 'score': 11.0}, {'connected_gene': 'ARG2', 'score': 11.0}, {'connected_gene': 'VTI1B', 'score': 6.13}, {'connected_gene': 'RN7SL369P', 'score': 0.77}, {'connected_gene': 'RPL21P9', 'score': 0.77}, {'connected_gene': 'RDH12', 'score': 0.44}]
chr14 GH14I067666 67666142 67667913 0.89 [{'connected_gene': 'ARG2', 'score': 21.35}, {'connected_gene': 'ENSG00000201529', 'score': 12.86}, {'connected_gene': 'RDH11', 'score': 12.79}, {'connected_gene': 'PIGH', 'score': 11.76}, {'connected_gene': 'RDH12', 'score': 11.53}, {'connected_gene': 'RN7SL369P', 'score': 11.52}, {'connected_gene': 'VTI1B', 'score': 5.88}, {'connected_gene': 'GC14M067658', 'score': 0.44}, {'connected_gene': 'ENSG00000258466', 'score': 0.34}]
chr14 GH14I067668 67668086 67668888 0.59 [{'connected_gene': 'ARG2', 'score': 23.77}, {'connected_gene': 'RDH11', 'score': 13.07}, {'connected_gene': 'ENSG00000201529', 'score': 12.85}, {'connected_gene': 'PIGH', 'score': 11.76}, {'connected_gene': 'RDH12', 'score': 11.53}, {'connected_gene': 'RN7SL369P', 'score': 11.52}, {'connected_gene': 'VTI1B', 'score': 0.44}, {'connected_gene': 'GC14M067658', 'score': 0.39}, {'connected_gene': 'ENSG00000258466', 'score': 0.34}]
chr14 GH14I068277 68277960 68287296 1.58 [{'connected_gene': 'PPIAP6', 'score': 5.1}, {'connected_gene': 'VTI1B', 'score': 4.33}, {'connected_gene': 'RAD51B', 'score': 1.65}, {'connected_gene': 'GC14P068302', 'score': 0.34}, {'connected_gene': 'RN7SL108P', 'score': 0.25}]
chr14 GH14I067738 67738304 67739933 1.14 [{'connected_gene': 'ZFYVE26', 'score': 11.78}, {'connected_gene': 'RDH11', 'score': 7.29}, {'connected_gene': 'RDH12', 'score': 6.0}, {'connected_gene': 'PIGH', 'score': 5.2}, {'connected_gene': 'VTI1B', 'score': 5.0}, {'connected_gene': 'ENSG00000271697', 'score': 0.77}, {'connected_gene': 'RN7SL213P', 'score': 0.39}]
chr14 GH14I068290 68290993 68298762 1.42 [{'connected_gene': 'ZFYVE26', 'score': 4.87}, {'connected_gene': 'VTI1B', 'score': 4.71}, {'connected_gene': 'GC14P068302', 'score': 0.44}, {'connected_gene': 'RN7SL108P', 'score': 0.22}, {'connected_gene': 'RAD51B', 'score': 0.04}]
chr14 GH14I067679 67679601 67681496 1.1 [{'connected_gene': 'RDH12', 'score': 17.64}, {'connected_gene': 'RN7SL369P', 'score': 11.75}, {'connected_gene': 'PIGH', 'score': 11.13}, {'connected_gene': 'PLEKHH1', 'score': 10.5}, {'connected_gene': 'ARG2', 'score': 9.6}, {'connected_gene': 'ENSG00000258466', 'score': 0.44}, {'connected_gene': 'VTI1B', 'score': 0.44}, {'connected_gene': 'GC14P067688', 'score': 0.44}, {'connected_gene': 'RDH11', 'score': 0.37}]
chr14 GH14I067748 67748918 67751036 0.31 [{'connected_gene': 'RN7SL213P', 'score': 550.77}, {'connected_gene': 'ARG2', 'score': 11.09}, {'connected_gene': 'PIGH', 'score': 10.02}, {'connected_gene': 'VTI1B', 'score': 4.94}, {'connected_gene': 'ENSG00000271697', 'score': 0.39}, {'connected_gene': 'ZFYVE26', 'score': 0.2}]
chr14 GH14I067673 67673352 67675832 2.01 [{'connected_gene': 'VTI1B', 'score': 550.77}, {'connected_gene': 'PIGH', 'score': 15.72}, {'connected_gene': 'RDH11', 'score': 13.1}, {'connected_gene': 'RDH12', 'score': 11.75}, {'connected_gene': 'RN7SL369P', 'score': 11.73}, {'connected_gene': 'ARG2', 'score': 9.34}, {'connected_gene': 'EIF2S1', 'score': 3.7}, {'connected_gene': 'GC14M067658', 'score': 0.37}, {'connected_gene': 'ENSG00000258466', 'score': 0.37}]
chr14 GH14I067733 67733264 67735978 0.43 [{'connected_gene': 'ENSG00000271697', 'score': 550.77}, {'connected_gene': 'RDH11', 'score': 13.24}, {'connected_gene': 'VTI1B', 'score': 5.06}, {'connected_gene': 'RPL21P9', 'score': 0.34}, {'connected_gene': 'RDH12', 'score': 0.29}, {'connected_gene': 'ZFYVE26', 'score': 0.18}]
chr14 GH14I067721 67721904 67722800 0.84 [{'connected_gene': 'ENSG00000201529', 'score': 10.99}, {'connected_gene': 'ARG2', 'score': 10.99}, {'connected_gene': 'PIGH', 'score': 10.48}, {'connected_gene': 'VTI1B', 'score': 6.08}, {'connected_gene': 'RPL21P9', 'score': 0.44}, {'connected_gene': 'ENSG00000271697', 'score': 0.39}, {'connected_gene': 'RDH12', 'score': 0.34}]
chr14 GH14I067650 67650466 67651587 0.31 [{'connected_gene': 'GC14M067653', 'score': 550.77}, {'connected_gene': 'COX7A2P1', 'score': 550.77}, {'connected_gene': 'VTI1B', 'score': 17.57}, {'connected_gene': 'ENSG00000201529', 'score': 12.44}, {'connected_gene': 'ARG2', 'score': 12.44}]