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
ENST00000535042 [[61535972, 61536245], [61541450, 61541619], [61546324, 61546555], [61557256, 61557393], [61557964, 61558075]] None
ENST00000537328 [[61556434, 61556707], [61557256, 61557393], [61557964, 61558074], [61560027, 61560082]] [[61557266, 61557393], [61557964, 61558074], [61560027, 61560030]]
ENST00000541893 [[61556601, 61556707], [61557256, 61557462], [61557894, 61558074], [61560027, 61560052]] [[61557927, 61558074], [61560027, 61560030]]
ENST00000545210 [[61556601, 61556707], [61557256, 61557462], [61557846, 61558074], [61560027, 61560066]] [[61557927, 61558074], [61560027, 61560030]]
ENST00000257262 [[61556601, 61556707], [61557187, 61557393], [61557964, 61558074], [61560027, 61560073]] [[61557266, 61557393], [61557964, 61558074], [61560027, 61560030]]
ENST00000535297 [[61556601, 61556707], [61557846, 61558074], [61560027, 61560088]] [[61557927, 61558074], [61560027, 61560030]]
ENST00000543510 [[61556602, 61556707], [61557256, 61557393], [61557964, 61558074], [61558934, 61560274]] [[61557266, 61557393], [61557964, 61558062]]
ENST00000540434 [[61557568, 61558074], [61560027, 61560074]] None
NM_014206 [[61556601, 61556707], [61557256, 61557393], [61557964, 61558074], [61560027, 61560085]] [[61557266, 61557393], [61557964, 61558074], [61560027, 61560030]]
Promoter
Chrom Start End Description
chr11 61560053 61560091 CAGE_peak_1_at_C11orf10_5end
chr11 61560254 61560264 CAGE_peak_4_at_C11orf10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I061787 61787935 61788858 0.87 [{'connected_gene': 'FADS2', 'score': 68.56}, {'connected_gene': 'CPSF7', 'score': 17.89}, {'connected_gene': 'TUT1', 'score': 14.62}, {'connected_gene': 'CSKMT', 'score': 14.5}, {'connected_gene': 'TMEM138', 'score': 13.14}, {'connected_gene': 'RN7SL23P', 'score': 12.94}, {'connected_gene': 'MTA2', 'score': 12.69}, {'connected_gene': 'INTS5', 'score': 12.42}, {'connected_gene': 'GANAB', 'score': 11.96}, {'connected_gene': 'TAF6L', 'score': 11.48}, {'connected_gene': 'EML3', 'score': 10.54}, {'connected_gene': 'TMEM258', 'score': 0.77}, {'connected_gene': 'MIR611', 'score': 0.77}, {'connected_gene': 'GC11P061758', 'score': 0.31}, {'connected_gene': 'MYRF', 'score': 0.28}]
chr11 GH11I061783 61783375 61784980 0.2 [{'connected_gene': 'FADS2', 'score': 28.89}, {'connected_gene': 'TMEM258', 'score': 0.44}, {'connected_gene': 'MIR611', 'score': 0.44}, {'connected_gene': 'GC11P061758', 'score': 0.31}, {'connected_gene': 'MYRF', 'score': 0.29}]
chr11 GH11I061774 61774691 61778027 1.19 [{'connected_gene': 'FADS2', 'score': 23.31}, {'connected_gene': 'TMEM258', 'score': 0.37}, {'connected_gene': 'GC11P061758', 'score': 0.37}, {'connected_gene': 'MIR611', 'score': 0.37}, {'connected_gene': 'MYRF', 'score': 0.34}]
chr11 GH11I061778 61778407 61779395 0.43 [{'connected_gene': 'FADS2', 'score': 25.12}, {'connected_gene': 'TMEM258', 'score': 0.39}, {'connected_gene': 'MIR611', 'score': 0.39}, {'connected_gene': 'GC11P061758', 'score': 0.34}, {'connected_gene': 'MYRF', 'score': 0.31}]
chr11 GH11I061779 61779746 61781277 0.31 [{'connected_gene': 'FADS2', 'score': 28.56}, {'connected_gene': 'TMEM258', 'score': 0.39}, {'connected_gene': 'MIR611', 'score': 0.39}, {'connected_gene': 'GC11P061758', 'score': 0.34}, {'connected_gene': 'MYRF', 'score': 0.31}]
chr11 GH11I061819 61819697 61821435 0.87 [{'connected_gene': 'FADS2', 'score': 27.08}, {'connected_gene': 'TMEM258', 'score': 10.73}, {'connected_gene': 'FEN1', 'score': 10.73}, {'connected_gene': 'MIR611', 'score': 10.73}, {'connected_gene': 'MIR1908', 'score': 0.44}, {'connected_gene': 'PIR43939', 'score': 0.44}, {'connected_gene': 'FADS1', 'score': 0.44}]
chr11 GH11I061762 61762966 61773948 1.33 [{'connected_gene': 'FADS2', 'score': 18.36}, {'connected_gene': 'BEST1', 'score': 10.22}, {'connected_gene': 'MYRF', 'score': 5.07}, {'connected_gene': 'GC11P061758', 'score': 0.44}, {'connected_gene': 'TMEM258', 'score': 0.34}, {'connected_gene': 'MIR611', 'score': 0.34}]
chr11 GH11I061791 61791191 61794259 2.27 [{'connected_gene': 'FADS2', 'score': 583.16}, {'connected_gene': 'MIR611', 'score': 550.77}, {'connected_gene': 'FEN1', 'score': 550.77}, {'connected_gene': 'TMEM258', 'score': 550.77}, {'connected_gene': 'CPSF7', 'score': 45.31}, {'connected_gene': 'CSKMT', 'score': 43.36}, {'connected_gene': 'GANAB', 'score': 40.43}, {'connected_gene': 'TMEM138', 'score': 37.3}, {'connected_gene': 'EML3', 'score': 29.01}, {'connected_gene': 'TUT1', 'score': 28.93}, {'connected_gene': 'INTS5', 'score': 27.86}, {'connected_gene': 'TMEM109', 'score': 27.59}, {'connected_gene': 'RN7SL23P', 'score': 26.63}, {'connected_gene': 'MTA2', 'score': 23.47}, {'connected_gene': 'TAF6L', 'score': 20.06}, {'connected_gene': 'TMEM179B', 'score': 18.46}, {'connected_gene': 'UBXN1', 'score': 18.24}, {'connected_gene': 'SDHAF2', 'score': 12.72}, {'connected_gene': 'MIR1908', 'score': 12.24}, {'connected_gene': 'FADS1', 'score': 12.18}, {'connected_gene': 'EEF1G', 'score': 11.76}, {'connected_gene': 'VPS37C', 'score': 10.96}, {'connected_gene': 'BEST1', 'score': 10.61}, {'connected_gene': 'GC11P061758', 'score': 0.29}]
chr11 GH11I061731 61731896 61734041 1.1 [{'connected_gene': 'DAGLA', 'score': 16.92}, {'connected_gene': 'MYRF', 'score': 13.12}, {'connected_gene': 'DKFZP434K028', 'score': 12.6}, {'connected_gene': 'TMEM258', 'score': 11.65}, {'connected_gene': 'FEN1', 'score': 11.65}, {'connected_gene': 'MIR611', 'score': 11.65}, {'connected_gene': 'SYT7', 'score': 10.46}, {'connected_gene': 'PIR41833', 'score': 0.39}]