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
ENST00000350427 [[42948324, 42950520], [42951513, 42951768]] [[42949233, 42950499]]
ENST00000447342 [[42948873, 42950515], [42951513, 42951689]] [[42949233, 42950499]]
ENST00000431882 [[42949051, 42950520], [42951513, 42951689]] [[42949233, 42950520], [42951513, 42951666]]
ENST00000438029 [[42949220, 42950520], [42951066, 42951509]] [[42949233, 42950499]]
ENST00000425683 [[42949965, 42950520], [42951822, 42951904]] [[42949965, 42950499]]
ENST00000432637 [[42950244, 42950792], [42951513, 42951543]] [[42950244, 42950499]]
NM_001099858 [[42948871, 42950520], [42951513, 42951689]] [[42949233, 42950520], [42951513, 42951666]]
NM_024054 [[42948871, 42950515], [42951513, 42951689]] [[42949233, 42950499]]
Promoter
Chrom Start End Description
chr7 42951606 42951694 CAGE_peak_1_at_C7orf25_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I042940 42940951 42941813 0.95 [{'connected_gene': 'C7orf25', 'score': 27.85}, {'connected_gene': 'MRPL32', 'score': 9.25}, {'connected_gene': 'PSMA2', 'score': 0.44}, {'connected_gene': 'LOC105375253', 'score': 0.39}]
chr7 GH07I042913 42913702 42915148 0.89 [{'connected_gene': 'C7orf25', 'score': 44.34}, {'connected_gene': 'MRPL32', 'score': 9.19}, {'connected_gene': 'LOC105375252', 'score': 0.77}, {'connected_gene': 'ENSG00000256646', 'score': 0.37}]
chr7 GH07I042911 42911040 42913345 2.07 [{'connected_gene': 'C7orf25', 'score': 596.8}, {'connected_gene': 'MRPL32', 'score': 9.17}, {'connected_gene': 'ENSG00000261019', 'score': 0.44}, {'connected_gene': 'ENSG00000256646', 'score': 0.37}]
chr7 GH07I042753 42753237 42754506 0.31 [{'connected_gene': 'C7orf25', 'score': 5.2}, {'connected_gene': 'TCP1P1', 'score': 0.26}, {'connected_gene': 'LINC01448', 'score': 0.25}]
chr7 GH07I042945 42945541 42946672 1.02 [{'connected_gene': 'C7orf25', 'score': 11.23}, {'connected_gene': 'HECW1', 'score': 10.85}, {'connected_gene': 'ENSG00000228680', 'score': 10.42}, {'connected_gene': 'MRPL32', 'score': 0.39}, {'connected_gene': 'LOC105375253', 'score': 0.39}, {'connected_gene': 'PSMA2', 'score': 0.39}]
chr7 GH07I042688 42687382 42687491 0.2 [{'connected_gene': 'C7orf25', 'score': 5.35}, {'connected_gene': 'LINC01448', 'score': 0.37}, {'connected_gene': 'LOC105375251', 'score': 0.28}]
chr7 GH07I042887 42887001 42890000 1.59 [{'connected_gene': 'C7orf25', 'score': 40.41}, {'connected_gene': 'GC07M042892', 'score': 0.44}, {'connected_gene': 'ENSG00000231539', 'score': 0.26}]
chr7 GH07I042877 42877703 42878600 0.46 [{'connected_gene': 'C7orf25', 'score': 35.26}, {'connected_gene': 'GC07M042892', 'score': 0.37}, {'connected_gene': 'ENSG00000231539', 'score': 0.29}]
chr7 GH07I042972 42972457 42974305 0.92 [{'connected_gene': 'MRPL32', 'score': 10.62}, {'connected_gene': 'C7orf25', 'score': 5.34}, {'connected_gene': 'LOC105375253', 'score': 0.37}, {'connected_gene': 'GC07P043096', 'score': 0.13}, {'connected_gene': 'LOC105375254', 'score': 0.11}]
chr7 GH07I042930 42930277 42933993 2.02 [{'connected_gene': 'MRPL32', 'score': 550.77}, {'connected_gene': 'ENSG00000256646', 'score': 550.77}, {'connected_gene': 'PSMA2', 'score': 550.77}, {'connected_gene': 'C7orf25', 'score': 43.05}, {'connected_gene': 'LOC105375252', 'score': 0.39}]
chr7 GH07I042915 42915422 42915571 0.2 [{'connected_gene': 'LOC105375252', 'score': 0.77}, {'connected_gene': 'C7orf25', 'score': 0.77}, {'connected_gene': 'ENSG00000256646', 'score': 0.37}]
chr7 GH07I043138 43138159 43142045 0.59 [{'connected_gene': 'HECW1-IT1', 'score': 11.53}, {'connected_gene': 'HECW1', 'score': 11.51}, {'connected_gene': 'RNU7-35P', 'score': 11.28}, {'connected_gene': 'RNU6-575P', 'score': 10.96}, {'connected_gene': 'ENSG00000228680', 'score': 10.44}, {'connected_gene': 'C7orf25', 'score': 5.08}, {'connected_gene': 'MIR3943', 'score': 0.39}]
chr7 GH07I042894 42894042 42894191 0.2 [{'connected_gene': 'GC07P042896', 'score': 550.77}, {'connected_gene': 'PIR52657', 'score': 550.77}, {'connected_gene': 'GC07M042892', 'score': 550.77}, {'connected_gene': 'C7orf25', 'score': 39.21}, {'connected_gene': 'ENSG00000231539', 'score': 0.25}]