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
ENST00000406775 [[69063904, 69064948], [69364271, 69364484], [69583117, 69583219], [69599521, 69599557], [69900737, 69900767], [70163554, 70163606], [70227855, 70228327], [70229737, 70229991], [70231099, 70231320], [70233009, 70233054], [70236534, 70236630], [70240342, 70240372], [70242088, 70242160], [70246600, 70246742], [70249927, 70250005], [70250940, 70251024], [70252194, 70252417], [70254733, 70257489]] [[69064639, 69064948], [69364271, 69364484], [69583117, 69583219], [69599521, 69599557], [69900737, 69900767], [70163554, 70163606], [70227855, 70228327], [70229737, 70229991], [70231099, 70231320], [70233009, 70233054], [70236534, 70236630], [70240342, 70240372], [70242088, 70242160], [70246600, 70246742], [70249927, 70250005], [70250940, 70251024], [70252194, 70252417], [70254733, 70255982]]
ENST00000342771 [[69064318, 69064948], [69364271, 69364484], [69583117, 69583219], [69599521, 69599557], [69900737, 69900767], [70163554, 70163606], [70227855, 70228327], [70229737, 70229991], [70231099, 70231320], [70233009, 70233054], [70236534, 70236630], [70239013, 70239085], [70240342, 70240372], [70242088, 70242160], [70246600, 70246742], [70249927, 70250005], [70250940, 70251024], [70252194, 70252417], [70254733, 70258054]] [[69064639, 69064948], [69364271, 69364484], [69583117, 69583219], [69599521, 69599557], [69900737, 69900767], [70163554, 70163606], [70227855, 70228327], [70229737, 70229991], [70231099, 70231320], [70233009, 70233054], [70236534, 70236630], [70239013, 70239085], [70240342, 70240372], [70242088, 70242160], [70246600, 70246742], [70249927, 70250005], [70250940, 70251024], [70252194, 70252417], [70254733, 70255982]]
ENST00000403018 [[69064596, 69064948], [69364271, 69364484], [69583117, 69583219], [69599521, 69599557], [69755353, 69755607]] [[69064639, 69064948], [69364271, 69364484], [69583117, 69583219], [69599521, 69599557], [69755353, 69755494]]
ENST00000449547 [[70246628, 70246742], [70249927, 70250005], [70250940, 70251024], [70252071, 70252123], [70254733, 70254970]] [[70246628, 70246742], [70249927, 70250005], [70250940, 70251024], [70252071, 70252097]]
ENST00000418686 [[70250394, 70250458], [70250940, 70251024], [70252194, 70252417], [70254733, 70254912]] [[70250394, 70250458], [70250940, 70251024], [70252194, 70252417], [70254733, 70254912]]
ENST00000476695 [[69289611, 69289673], [69290765, 69290861], [69364271, 69364484], [69583117, 69583219], [69599521, 69599557]] None
ENST00000475660 [[69781901, 69782032], [69900737, 69901163]] None
ENST00000489774 [[70159858, 70160031], [70163554, 70164476]] None
ENST00000416482 [[70194124, 70194207], [70227855, 70228327], [70229740, 70229780]] [[70194124, 70194207], [70227855, 70228327], [70229740, 70229780]]
ENST00000443672 [[70229898, 70229991], [70231099, 70231320], [70236534, 70236630], [70239013, 70239085], [70240342, 70240372], [70242088, 70242118]] [[70229898, 70229991], [70231099, 70231320], [70236534, 70236630], [70239013, 70239085], [70240342, 70240372], [70242088, 70242118]]
ENST00000481994 [[70229916, 70229991], [70231099, 70231320], [70236534, 70236630], [70239013, 70239362]] None
ENST00000483297 [[70233009, 70233054], [70236201, 70236501]] None
ENST00000498384 [[70236432, 70236630], [70239013, 70239085], [70240342, 70240372], [70242088, 70242160], [70246600, 70246742], [70249927, 70250005], [70250940, 70250999]] None
ENST00000464768 [[70239774, 70240372], [70242088, 70242160], [70246600, 70246684]] None
ENST00000439256 [[70240342, 70240372], [70242088, 70242203], [70246600, 70246742], [70249927, 70250005], [70250940, 70251024]] [[70240342, 70240372], [70242088, 70242203], [70246600, 70246643]]
ENST00000465899 [[70241659, 70242160], [70246600, 70246645]] None
NM_001127232 [[69063904, 69064948], [69364271, 69364484], [69583117, 69583219], [69599521, 69599557], [69755353, 69755772]] [[69064639, 69064948], [69364271, 69364484], [69583117, 69583219], [69599521, 69599557], [69755353, 69755494]]
NM_001127231 [[69063904, 69064948], [69364271, 69364484], [69583117, 69583219], [69599521, 69599557], [69900737, 69900767], [70163554, 70163606], [70227855, 70228327], [70229737, 70229991], [70231099, 70231320], [70233009, 70233054], [70236534, 70236630], [70240342, 70240372], [70242088, 70242160], [70246600, 70246742], [70249927, 70250005], [70250940, 70251024], [70252194, 70252417], [70254733, 70258054]] [[69064639, 69064948], [69364271, 69364484], [69583117, 69583219], [69599521, 69599557], [69900737, 69900767], [70163554, 70163606], [70227855, 70228327], [70229737, 70229991], [70231099, 70231320], [70233009, 70233054], [70236534, 70236630], [70240342, 70240372], [70242088, 70242160], [70246600, 70246742], [70249927, 70250005], [70250940, 70251024], [70252194, 70252417], [70254733, 70255982]]
NM_015570 [[69063904, 69064948], [69364271, 69364484], [69583117, 69583219], [69599521, 69599557], [69900737, 69900767], [70163554, 70163606], [70227855, 70228327], [70229737, 70229991], [70231099, 70231320], [70233009, 70233054], [70236534, 70236630], [70239013, 70239085], [70240342, 70240372], [70242088, 70242160], [70246600, 70246742], [70249927, 70250005], [70250940, 70251024], [70252194, 70252417], [70254733, 70258054]] [[69064639, 69064948], [69364271, 69364484], [69583117, 69583219], [69599521, 69599557], [69900737, 69900767], [70163554, 70163606], [70227855, 70228327], [70229737, 70229991], [70231099, 70231320], [70233009, 70233054], [70236534, 70236630], [70239013, 70239085], [70240342, 70240372], [70242088, 70242160], [70246600, 70246742], [70249927, 70250005], [70250940, 70251024], [70252194, 70252417], [70254733, 70255982]]
Promoter
Chrom Start End Description
chr7 69063408 69063445 CAGE_peak_1_at_AUTS2_5end
chr7 69063451 69063472 CAGE_peak_2_at_AUTS2_5end
chr7 69063473 69063494 CAGE_peak_5_at_AUTS2_5end
chr7 69063511 69063531 CAGE_peak_3_at_AUTS2_5end
chr7 69064300 69064342 CAGE_peak_10_at_AUTS2_5end
chr7 69064463 69064505 CAGE_peak_9_at_AUTS2_5end
chr7 69064566 69064585 CAGE_peak_17_at_AUTS2_5end
chr7 69289551 69289564 CAGE_peak_20_at_AUTS2_5end
chr7 69289580 69289610 CAGE_peak_6_at_AUTS2_5end
chr7 70159487 70159571 CAGE_peak_4_at_AUTS2_5end
chr7 70229719 70229735 CAGE_peak_13_at_AUTS2_5end
chr7 70229806 70229817 CAGE_peak_31_at_AUTS2_5end
chr7 70229911 70229931 CAGE_peak_23_at_AUTS2_5end
chr7 70231159 70231182 CAGE_peak_7_at_AUTS2_5end
chr7 70241758 70241770 CAGE_peak_47_at_AUTS2_5end

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.