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
ENST00000367759 [[170904611, 170904728], [170914660, 170914722], [170916667, 170916714], [170927601, 170927681], [170928602, 170928738], [170931030, 170931117], [170934291, 170934396], [170940888, 170941024], [170952562, 170952675], [170955701, 170955851], [170958995, 170959144], [170961304, 170961470], [170964529, 170964672], [170965647, 170965785], [170967294, 170967415], [170983257, 170983395], [170985303, 170985477], [170993535, 170993688], [170993789, 170993906], [170994458, 170994561], [171031272, 171031335], [171033239, 171033906]] [[170914697, 170914722], [170916667, 170916714], [170927601, 170927681], [170928602, 170928738], [170931030, 170931117], [170934291, 170934396], [170940888, 170941024], [170952562, 170952675], [170955701, 170955851], [170958995, 170959144], [170961304, 170961470], [170964529, 170964672], [170965647, 170965785], [170967294, 170967415], [170983257, 170983395], [170985303, 170985477], [170993535, 170993688], [170993789, 170993906], [170994458, 170994561], [171031272, 171031335], [171033239, 171033481]]
ENST00000367758 [[170904666, 170904728], [170914660, 170914722], [170916667, 170916714], [170927601, 170927681], [170928602, 170928738], [170931030, 170931117], [170934291, 170934396], [170940888, 170941024], [170952562, 170952675], [170955701, 170955851], [170958995, 170959144], [170961304, 170961470], [170964529, 170964672], [170965647, 170965785], [170967294, 170967947]] [[170914697, 170914722], [170916667, 170916714], [170927601, 170927681], [170928602, 170928738], [170931030, 170931117], [170934291, 170934396], [170940888, 170941024], [170952562, 170952675], [170955701, 170955851], [170958995, 170959144], [170961304, 170961470], [170964529, 170964672], [170965647, 170965785], [170967294, 170967541]]
ENST00000426136 [[170961457, 170961470], [170964529, 170964672], [170965647, 170965785], [170967294, 170967415], [170983257, 170983395], [170984150, 170984284]] [[170961457, 170961470], [170964529, 170964672], [170965647, 170965785], [170967294, 170967415], [170983257, 170983395], [170984150, 170984159]]
NM_001163629 [[170904611, 170904728], [170914660, 170914722], [170916667, 170916714], [170927601, 170927681], [170928602, 170928738], [170931030, 170931117], [170934291, 170934396], [170940888, 170941024], [170952562, 170952675], [170955701, 170955851], [170958995, 170959144], [170961304, 170961470], [170964529, 170964672], [170965647, 170965785], [170967294, 170967415], [170983257, 170983395], [170985303, 170985477], [170993535, 170993688], [170993789, 170993906], [170994458, 170994561], [171031272, 171031335], [171033239, 171033906]] [[170914697, 170914722], [170916667, 170916714], [170927601, 170927681], [170928602, 170928738], [170931030, 170931117], [170934291, 170934396], [170940888, 170941024], [170952562, 170952675], [170955701, 170955851], [170958995, 170959144], [170961304, 170961470], [170964529, 170964672], [170965647, 170965785], [170967294, 170967415], [170983257, 170983395], [170985303, 170985477], [170993535, 170993688], [170993789, 170993906], [170994458, 170994561], [171031272, 171031335], [171033239, 171033481]]
NM_025063 [[170904635, 170904728], [170914660, 170914722], [170916667, 170916714], [170927601, 170927681], [170928602, 170928738], [170931030, 170931117], [170934291, 170934396], [170940888, 170941024], [170952562, 170952675], [170955701, 170955851], [170958995, 170959144], [170961304, 170961470], [170964529, 170964672], [170965647, 170965785], [170967294, 170967947]] [[170914697, 170914722], [170916667, 170916714], [170927601, 170927681], [170928602, 170928738], [170931030, 170931117], [170934291, 170934396], [170940888, 170941024], [170952562, 170952675], [170955701, 170955851], [170958995, 170959144], [170961304, 170961470], [170964529, 170964672], [170965647, 170965785], [170967294, 170967541]]
Promoter
Chrom Start End Description
chr1 170904671 170904677 CAGE_peak_4_at_C1orf129_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I170938 170938828 170938887 0.5 [{'connected_gene': 'MROH9', 'score': 550.77}, {'connected_gene': 'GC01P170956', 'score': 0.37}]
chr1 GH01I170935 170935414 170935473 0.5 [{'connected_gene': 'MROH9', 'score': 550.77}, {'connected_gene': 'GC01M170893', 'score': 0.39}]
chr1 GH01I170929 170929226 170930602 0.77 [{'connected_gene': 'MROH9', 'score': 0.44}, {'connected_gene': 'GC01M170893', 'score': 0.44}]
chr1 GH01I171217 171217915 171223199 0.95 [{'connected_gene': 'FMO2', 'score': 24.07}, {'connected_gene': 'ENSG00000231424', 'score': 6.08}, {'connected_gene': 'FMO3', 'score': 4.73}, {'connected_gene': 'MROH9', 'score': 1.32}, {'connected_gene': 'ENSG00000225243', 'score': 0.44}, {'connected_gene': 'LOC105371611', 'score': 0.29}]
chr1 GH01I171201 171201813 171202054 0.4 [{'connected_gene': 'FMO2', 'score': 9.09}, {'connected_gene': 'FMO3', 'score': 7.75}, {'connected_gene': 'MROH9', 'score': 2.05}, {'connected_gene': 'ENSG00000225243', 'score': 0.31}, {'connected_gene': 'LOC105371611', 'score': 0.25}]