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
ENST00000533608 [[44117098, 44117402], [44129232, 44129798], [44130743, 44130833], [44135734, 44135851], [44146338, 44146534], [44148365, 44148505], [44151594, 44151688], [44193160, 44193292], [44219378, 44219568], [44228342, 44228509], [44253902, 44254046], [44255664, 44255793], [44257842, 44257925], [44265698, 44266482]] [[44129262, 44129798], [44130743, 44130833], [44135734, 44135851], [44146338, 44146534], [44148365, 44148505], [44151594, 44151688], [44193160, 44193292], [44219378, 44219568], [44228342, 44228509], [44253902, 44254046], [44255664, 44255793], [44257842, 44257925], [44265698, 44265837]]
ENST00000358681 [[44117266, 44117402], [44129232, 44129798], [44130743, 44130833], [44135734, 44135851], [44146338, 44146534], [44148365, 44148505], [44151594, 44151688], [44165796, 44165889], [44193223, 44193292], [44219378, 44219568], [44228342, 44228509], [44253902, 44254046], [44255664, 44255793], [44257842, 44257925], [44265698, 44266481]] [[44129262, 44129798], [44130743, 44130833], [44135734, 44135851], [44146338, 44146534], [44148365, 44148505], [44151594, 44151688], [44165796, 44165889], [44193223, 44193292], [44219378, 44219568], [44228342, 44228509], [44253902, 44254046], [44255664, 44255793], [44257842, 44257925], [44265698, 44265837]]
ENST00000395673 [[44117746, 44117871], [44129232, 44129798], [44130743, 44130833], [44135734, 44135851], [44146338, 44146534], [44148365, 44148505], [44151594, 44151688], [44193160, 44193292], [44219378, 44219568], [44228342, 44228509], [44253902, 44254046], [44255664, 44255793], [44257842, 44257925], [44265698, 44266979]] [[44117802, 44117871], [44129232, 44129798], [44130743, 44130833], [44135734, 44135851], [44146338, 44146534], [44148365, 44148505], [44151594, 44151688], [44193160, 44193292], [44219378, 44219568], [44228342, 44228509], [44253902, 44254046], [44255664, 44255793], [44257842, 44257925], [44265698, 44265837]]
ENST00000343631 [[44117772, 44117871], [44129232, 44129798], [44130743, 44130833], [44135734, 44135851], [44146338, 44146534], [44148365, 44148505], [44151594, 44151688], [44193160, 44193292], [44219378, 44219568], [44228342, 44228509], [44253902, 44254046], [44255664, 44255793], [44257842, 44257925], [44265698, 44266975]] [[44129262, 44129798], [44130743, 44130833], [44135734, 44135851], [44146338, 44146534], [44148365, 44148505], [44151594, 44151688], [44193160, 44193292], [44219378, 44219568], [44228342, 44228509], [44253902, 44254046], [44255664, 44255793], [44257842, 44257925], [44265698, 44265837]]
ENST00000531161 [[44146418, 44146534], [44148365, 44148505], [44151594, 44151688], [44193160, 44193292], [44228342, 44228509], [44253902, 44254000]] None
ENST00000525559 [[44148452, 44148505], [44151594, 44151688], [44193160, 44193461]] None
ENST00000534048 [[44151592, 44151688], [44193160, 44193292], [44219378, 44219670]] None
ENST00000532479 [[44117222, 44117402], [44125239, 44125295], [44126166, 44126333], [44129232, 44129409]] [[44129262, 44129409]]
ENST00000527014 [[44117228, 44117402], [44125256, 44125295], [44129232, 44129599]] [[44129262, 44129599]]
ENST00000529186 [[44129564, 44129798], [44130743, 44130833], [44135734, 44135851], [44137450, 44138389]] None
ENST00000528159 [[44228414, 44228509], [44253902, 44254046], [44255664, 44255793], [44265698, 44265851]] None
NM_207122 [[44117098, 44117402], [44129232, 44129798], [44130743, 44130833], [44135734, 44135851], [44146338, 44146534], [44148365, 44148505], [44151594, 44151688], [44193160, 44193292], [44219378, 44219568], [44228342, 44228509], [44253902, 44254046], [44255664, 44255793], [44257842, 44257925], [44265698, 44266980]] [[44129262, 44129798], [44130743, 44130833], [44135734, 44135851], [44146338, 44146534], [44148365, 44148505], [44151594, 44151688], [44193160, 44193292], [44219378, 44219568], [44228342, 44228509], [44253902, 44254046], [44255664, 44255793], [44257842, 44257925], [44265698, 44265837]]
NM_001178083 [[44117098, 44117402], [44129232, 44129798], [44130743, 44130833], [44135734, 44135851], [44146338, 44146534], [44148365, 44148505], [44151594, 44151688], [44165796, 44165889], [44193223, 44193292], [44219378, 44219568], [44228342, 44228509], [44253902, 44254046], [44255664, 44255793], [44257842, 44257925], [44265698, 44266980]] [[44129262, 44129798], [44130743, 44130833], [44135734, 44135851], [44146338, 44146534], [44148365, 44148505], [44151594, 44151688], [44165796, 44165889], [44193223, 44193292], [44219378, 44219568], [44228342, 44228509], [44253902, 44254046], [44255664, 44255793], [44257842, 44257925], [44265698, 44265837]]
NM_000401 [[44117746, 44117871], [44129232, 44129798], [44130743, 44130833], [44135734, 44135851], [44146338, 44146534], [44148365, 44148505], [44151594, 44151688], [44193160, 44193292], [44219378, 44219568], [44228342, 44228509], [44253902, 44254046], [44255664, 44255793], [44257842, 44257925], [44265698, 44266980]] [[44117802, 44117871], [44129232, 44129798], [44130743, 44130833], [44135734, 44135851], [44146338, 44146534], [44148365, 44148505], [44151594, 44151688], [44193160, 44193292], [44219378, 44219568], [44228342, 44228509], [44253902, 44254046], [44255664, 44255793], [44257842, 44257925], [44265698, 44265837]]
Promoter
Chrom Start End Description
chr11 44117206 44117218 CAGE_peak_2_at_EXT2_5end
chr11 44117219 44117240 CAGE_peak_1_at_EXT2_5end
chr11 44117242 44117253 CAGE_peak_3_at_EXT2_5end
chr11 44117260 44117283 CAGE_peak_4_at_EXT2_5end
chr11 44117741 44117798 CAGE_peak_5_at_EXT2_5end