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
ENST00000370481 [[89472348, 89473535], [89474629, 89474823], [89475074, 89475177], [89476586, 89476799], [89477429, 89477710], [89478867, 89479110], [89479765, 89479962], [89480229, 89480339], [89480969, 89481097], [89486214, 89486426], [89488366, 89488565]] [[89473406, 89473535], [89474629, 89474823], [89475074, 89475177], [89476586, 89476799], [89477429, 89477710], [89478867, 89479110], [89479765, 89479962], [89480229, 89480339], [89480969, 89481097], [89486214, 89486404]]
ENST00000370482 [[89472361, 89473535], [89474629, 89474823], [89475074, 89475177], [89476586, 89476799], [89477429, 89477710], [89478867, 89479962], [89480229, 89480339], [89480969, 89481097], [89486214, 89486426], [89488366, 89488534]] None
ENST00000489444 [[89472362, 89473535], [89474629, 89474823], [89475074, 89475177], [89478867, 89479110], [89479765, 89479962], [89480229, 89480339], [89480969, 89481097], [89486214, 89486426], [89488366, 89488461]] [[89475172, 89475177], [89478867, 89479110], [89479765, 89479962], [89480229, 89480339], [89480969, 89481097], [89486214, 89486404]]
ENST00000493594 [[89472952, 89473535], [89474629, 89474823], [89475074, 89475177], [89476586, 89476799], [89477429, 89477710], [89478867, 89479110], [89479765, 89479962], [89480229, 89480339], [89480969, 89481097], [89485808, 89485894], [89486214, 89486426], [89488366, 89488577]] [[89485808, 89485894], [89486214, 89486404]]
ENST00000235878 [[89473451, 89473535], [89474629, 89474823], [89475074, 89475177], [89476586, 89476799], [89477429, 89477710], [89478867, 89479110], [89479765, 89479962], [89480087, 89480339], [89480969, 89481097], [89486214, 89486426], [89488366, 89488521]] [[89480228, 89480339], [89480969, 89481097], [89486214, 89486404]]
ENST00000461384 [[89474526, 89474823], [89475074, 89475177], [89476586, 89476799], [89477429, 89477518]] [[89474572, 89474823], [89475074, 89475177], [89476586, 89476799], [89477429, 89477518]]
ENST00000445969 [[89474617, 89474823], [89475074, 89475177], [89478880, 89478982]] [[89474617, 89474823], [89475074, 89475177], [89478880, 89478982]]
ENST00000564665 [[89479784, 89479962], [89480229, 89480339], [89480969, 89481097], [89488366, 89488549]] [[89479784, 89479962], [89480229, 89480339], [89480969, 89481050]]
ENST00000475853 [[89481002, 89481097], [89485812, 89485894], [89486214, 89486426], [89488366, 89488543]] None
ENST00000568006 [[89481025, 89481097], [89486035, 89486426], [89488366, 89488486]] [[89486113, 89486404]]
ENST00000564037 [[89485982, 89486426], [89488366, 89488434]] None
NM_001319179 [[89472359, 89473535], [89474629, 89474823], [89475074, 89475177], [89476586, 89476799], [89477429, 89477710], [89478867, 89479110], [89479765, 89479962], [89480229, 89480339], [89480969, 89481097], [89485808, 89485894], [89486214, 89486426], [89488366, 89488549]] [[89473406, 89473535], [89474629, 89474823], [89475074, 89475177], [89476586, 89476799], [89477429, 89477710], [89478867, 89479110], [89479765, 89479962], [89480229, 89480339], [89480969, 89481050]]
NM_001319180 [[89472359, 89473535], [89474629, 89474823], [89475074, 89475177], [89476586, 89476799], [89477429, 89477710], [89478867, 89479110], [89479765, 89479962], [89480087, 89480339], [89480969, 89481097], [89486214, 89486426], [89488366, 89488549]] [[89473406, 89473535], [89474629, 89474823], [89475074, 89475177], [89476586, 89476799], [89477429, 89477710], [89478867, 89479110], [89479765, 89479962], [89480087, 89480113]]
NM_018284 [[89472359, 89473535], [89474629, 89474823], [89475074, 89475177], [89476586, 89476799], [89477429, 89477710], [89478867, 89479110], [89479765, 89479962], [89480229, 89480339], [89480969, 89481097], [89486214, 89486426], [89488366, 89488549]] [[89473406, 89473535], [89474629, 89474823], [89475074, 89475177], [89476586, 89476799], [89477429, 89477710], [89478867, 89479110], [89479765, 89479962], [89480229, 89480339], [89480969, 89481097], [89486214, 89486404]]
NR_135007 [[89472359, 89473535], [89474629, 89474823], [89475074, 89475177], [89478867, 89479110], [89479765, 89479962], [89480229, 89480339], [89480969, 89481097], [89486214, 89486426], [89488366, 89488549]] None
NM_001319181 [[89474526, 89474823], [89475074, 89475177], [89476586, 89476799], [89477510, 89477710], [89478867, 89479110], [89479765, 89479962], [89480229, 89480339], [89480969, 89481097], [89486214, 89486426], [89488366, 89488549]] [[89474572, 89474823], [89475074, 89475177], [89476586, 89476799], [89477510, 89477710], [89478867, 89479110], [89479765, 89479962], [89480229, 89480339], [89480969, 89481097], [89486214, 89486404]]
Promoter
Chrom Start End Description
chr1 89476658 89476662 CAGE_peak_4_at_GBP3_5end
chr1 89488405 89488422 CAGE_peak_3_at_GBP3_5end
chr1 89488464 89488501 CAGE_peak_2_at_GBP3_5end
chr1 89488510 89488560 CAGE_peak_1_at_GBP3_5end