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
ENST00000223324 [[42971798, 42972115], [42974553, 42974735], [42976920, 42977456]] [[42971985, 42972115], [42974553, 42974735], [42976920, 42977175]]
ENST00000432845 [[42971974, 42972115], [42974553, 42976840], [42976920, 42977226]] [[42971985, 42972115], [42974553, 42974747]]
ENST00000413995 [[42974619, 42974735], [42976762, 42976840], [42976920, 42977456]] [[42974619, 42974735], [42976762, 42976774]]
ENST00000496564 [[42974641, 42974735], [42988163, 42988557]] None
NM_031903 [[42971938, 42972115], [42974553, 42974735], [42976920, 42977456]] [[42971985, 42972115], [42974553, 42974735], [42976920, 42977175]]
Promoter
Chrom Start End Description
chr7 42971945 42971988 CAGE_peak_1_at_MRPL32_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 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 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 GH07I043619 43619216 43627941 1.2 [{'connected_gene': 'PIR42681', 'score': 550.77}, {'connected_gene': 'STK17A', 'score': 18.34}, {'connected_gene': 'COA1', 'score': 15.92}, {'connected_gene': 'MRPL32', 'score': 11.34}, {'connected_gene': 'DDX56', 'score': 11.04}, {'connected_gene': 'BLVRA', 'score': 9.55}, {'connected_gene': 'POLM', 'score': 6.59}, {'connected_gene': 'DBNL', 'score': 2.49}, {'connected_gene': 'GC07P043619', 'score': 0.77}, {'connected_gene': 'GC07M043624', 'score': 0.77}, {'connected_gene': 'PIR50622', 'score': 0.77}]
chr7 GH07I043734 43734388 43736794 1.17 [{'connected_gene': 'PIR57316', 'score': 550.77}, {'connected_gene': 'BLVRA', 'score': 28.92}, {'connected_gene': 'COA1', 'score': 16.29}, {'connected_gene': 'STK17A', 'score': 14.89}, {'connected_gene': 'DDX56', 'score': 12.78}, {'connected_gene': 'TMED4', 'score': 12.35}, {'connected_gene': 'MRPL32', 'score': 10.38}, {'connected_gene': 'LINC00957', 'score': 6.08}]