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
ENST00000265000 [[174089903, 174090112], [174169130, 174169591], [174213258, 174213425], [174216546, 174216677], [174216914, 174216994], [174219265, 174219448], [174223197, 174223315], [174225146, 174225269], [174235108, 174235327], [174238784, 174238883], [174239581, 174239710], [174242730, 174245118]] [[174089986, 174090112], [174169130, 174169591], [174213258, 174213425], [174216546, 174216677], [174216914, 174216994], [174219265, 174219448], [174223197, 174223315], [174225146, 174225269], [174235108, 174235327], [174238784, 174238883], [174239581, 174239710], [174242730, 174242868]]
ENST00000512285 [[174089961, 174090112], [174169130, 174169591], [174213258, 174213425], [174216546, 174216677], [174216914, 174216994], [174218945, 174219522]] [[174089986, 174090112], [174169130, 174169591], [174213258, 174213425], [174216546, 174216677], [174216914, 174216994], [174218945, 174219132]]
ENST00000502407 [[174203585, 174203621], [174213258, 174213425], [174216546, 174216911]] None
ENST00000505308 [[174213281, 174213425], [174216546, 174216677], [174216914, 174216994], [174218945, 174219128], [174223197, 174223315], [174225146, 174225269], [174235108, 174235327], [174238784, 174238883], [174239581, 174239710], [174242730, 174243162]] [[174213281, 174213425], [174216546, 174216677], [174216914, 174216994], [174218945, 174219128], [174223197, 174223315], [174225146, 174225269], [174235108, 174235327], [174238784, 174238883], [174239581, 174239710], [174242730, 174242868]]
ENST00000506317 [[174219186, 174219448], [174223197, 174223315], [174225146, 174225269], [174235108, 174235188]] None
ENST00000503213 [[174225169, 174225269], [174235108, 174235327], [174238784, 174238883], [174239581, 174239811]] [[174225169, 174225269], [174235108, 174235327], [174238784, 174238883], [174239581, 174239761]]
ENST00000515862 [[174236991, 174238883], [174239581, 174239710], [174242730, 174244278]] None
NM_017423 [[174089903, 174090112], [174169130, 174169591], [174213258, 174213425], [174216546, 174216677], [174216914, 174216994], [174219265, 174219448], [174223197, 174223315], [174225146, 174225269], [174235108, 174235327], [174238784, 174238883], [174239581, 174239710], [174242730, 174245118]] [[174089986, 174090112], [174169130, 174169591], [174213258, 174213425], [174216546, 174216677], [174216914, 174216994], [174219265, 174219448], [174223197, 174223315], [174225146, 174225269], [174235108, 174235327], [174238784, 174238883], [174239581, 174239710], [174242730, 174242868]]
Promoter
Chrom Start End Description
chr4 174089404 174089450 CAGE_peak_3_at_GALNT7_5end
chr4 174089614 174089626 CAGE_peak_8_at_GALNT7_5end
chr4 174089918 174089921 CAGE_peak_4_at_GALNT7_5end
chr4 174089922 174089950 CAGE_peak_2_at_GALNT7_5end
chr4 174089951 174089974 CAGE_peak_1_at_GALNT7_5end