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
ENST00000524532 [[67656109, 67656286], [67656414, 67656471], [67663987, 67664074], [67664852, 67665037], [67669810, 67669847]] [[67664878, 67665037], [67669810, 67669847]]
ENST00000311864 [[67656145, 67656286], [67663987, 67664074], [67664852, 67665037], [67669810, 67670010], [67671253, 67671806], [67674918, 67675166], [67688495, 67688524], [67691834, 67691982], [67695104, 67695267]] [[67664878, 67665037], [67669810, 67670010], [67671253, 67671806], [67674918, 67675166], [67688495, 67688524], [67691834, 67691914]]
ENST00000530728 [[67656156, 67656286], [67663670, 67663746], [67663987, 67664074], [67664852, 67665037], [67669810, 67669884]] [[67664878, 67665037], [67669810, 67669884]]
ENST00000524914 [[67656159, 67656286], [67663987, 67664074], [67664852, 67665037], [67665691, 67665847], [67666243, 67667277]] [[67664878, 67665037], [67665691, 67665703]]
ENST00000534174 [[67656177, 67656286], [67663987, 67664074], [67664852, 67665037], [67669810, 67670010], [67671253, 67671806], [67674918, 67674967], [67675033, 67675166], [67688495, 67688524], [67691834, 67691982], [67695104, 67695262]] [[67664878, 67665037], [67669810, 67670010], [67671253, 67671806], [67674918, 67674967], [67675033, 67675166], [67688495, 67688524], [67691834, 67691914]]
ENST00000556046 [[67663490, 67663601], [67663987, 67664074], [67664852, 67665037], [67668147, 67668464], [67669810, 67670010], [67671253, 67671806], [67674918, 67675166], [67688495, 67688742], [67690469, 67690657]] [[67664878, 67665037], [67668147, 67668249]]
ENST00000531566 [[67664005, 67664074], [67664852, 67665037], [67669884, 67670004]] None
ENST00000556117 [[67671664, 67671806], [67688495, 67688524], [67690469, 67690657]] [[67671664, 67671806], [67688495, 67688510]]
ENST00000557671 [[67675033, 67675166], [67688495, 67688524], [67691357, 67691545]] [[67675033, 67675166], [67688495, 67688524], [67691357, 67691410]]
ENST00000554500 [[67694187, 67694451], [67695104, 67695261]] None
NM_173526 [[67656109, 67656286], [67663987, 67664074], [67664852, 67665037], [67669810, 67670010], [67671253, 67671806], [67674918, 67675166], [67688495, 67688524], [67691834, 67691982], [67695104, 67695267]] [[67664878, 67665037], [67669810, 67670010], [67671253, 67671806], [67674918, 67675166], [67688495, 67688524], [67691834, 67691914]]
Promoter
Chrom Start End Description
chr14 67656044 67656058 CAGE_peak_2_at_FAM71D_5end
chr14 67656142 67656162 CAGE_peak_1_at_FAM71D_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I067226 67226447 67227368 0.2 [{'connected_gene': 'ATP6V1D', 'score': 24.03}, {'connected_gene': 'MPP5', 'score': 0.39}, {'connected_gene': 'ENSG00000258988', 'score': 0.31}, {'connected_gene': 'FAM71D', 'score': 0.28}]
chr14 GH14I067221 67221156 67222864 0.8 [{'connected_gene': 'ATP6V1D', 'score': 25.04}, {'connected_gene': 'MPP5', 'score': 0.37}, {'connected_gene': 'ENSG00000258988', 'score': 0.34}, {'connected_gene': 'FAM71D', 'score': 0.29}]
chr14 GH14I067216 67216844 67219486 0.63 [{'connected_gene': 'ATP6V1D', 'score': 23.66}, {'connected_gene': 'MPP5', 'score': 12.18}, {'connected_gene': 'GPHN', 'score': 5.94}, {'connected_gene': 'ENSG00000258988', 'score': 0.37}, {'connected_gene': 'FAM71D', 'score': 0.31}]
chr14 GH14I067228 67228331 67229627 0.31 [{'connected_gene': 'ATP6V1D', 'score': 24.25}, {'connected_gene': 'EIF2S1', 'score': 7.85}, {'connected_gene': 'MPP5', 'score': 0.39}, {'connected_gene': 'ENSG00000258988', 'score': 0.31}, {'connected_gene': 'FAM71D', 'score': 0.28}]
chr14 GH14I067312 67312004 67312153 0.8 [{'connected_gene': 'ATP6V1D', 'score': 37.24}, {'connected_gene': 'EIF2S1', 'score': 12.33}, {'connected_gene': 'FAM71D', 'score': 11.37}, {'connected_gene': 'GC14P067341', 'score': 0.31}, {'connected_gene': 'GC14M067260', 'score': 0.23}, {'connected_gene': 'GC14M067261', 'score': 0.23}, {'connected_gene': 'MPP5', 'score': 0.19}]
chr14 GH14I067199 67199001 67199400 0.5 [{'connected_gene': 'SF3B4P1', 'score': 550.77}, {'connected_gene': 'ENSG00000258988', 'score': 550.77}, {'connected_gene': 'FAM71D', 'score': 0.44}, {'connected_gene': 'MPP5', 'score': 0.26}]
chr14 GH14I067189 67189391 67189450 0.84 [{'connected_gene': 'LOC105370538', 'score': 550.77}, {'connected_gene': 'FAM71D', 'score': 550.77}, {'connected_gene': 'SF3B4P1', 'score': 0.44}]