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
ENST00000453258 [[97471535, 97471750], [97582993, 97583121], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97629452]] [[97471713, 97471750], [97582993, 97583121], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97626140]]
ENST00000543964 [[97515408, 97515523], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97637023]] [[97602162, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97626140]]
ENST00000371207 [[97515408, 97515523], [97582993, 97583121], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97637023]] [[97515471, 97515523], [97582993, 97583121], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97626140]]
ENST00000371203 [[97515672, 97516012], [97582993, 97583121], [97599447, 97599565], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97637023]] [[97604233, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97626140]]
ENST00000539125 [[97515672, 97516012], [97582993, 97583121], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97637023]] [[97604233, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97626140]]
ENST00000371205 [[97515713, 97516012], [97582993, 97583121], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97626359]] [[97515996, 97516012], [97582993, 97583121], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97626140]]
ENST00000483213 [[97515934, 97516012], [97599447, 97599565], [97602100, 97602251], [97604311, 97604392], [97605113, 97605353], [97607202, 97607288]] None
ENST00000371206 [[97582992, 97583121], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97606153]] None
ENST00000490659 [[97582994, 97583121], [97599447, 97599565], [97602100, 97602251], [97604232, 97604604]] None
ENST00000494070 [[97599046, 97599224], [97599447, 97599565], [97602100, 97602251], [97602955, 97603058], [97604232, 97604310]] None
ENST00000461927 [[97599056, 97599565], [97602100, 97602170]] None
ENST00000422161 [[97604331, 97604392], [97605113, 97605353], [97605839, 97605977]] None
NM_001098175 [[97471535, 97471750], [97582993, 97583121], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97637023]] [[97471713, 97471750], [97582993, 97583121], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97626140]]
NM_001164181 [[97515408, 97515523], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97637023]] [[97602162, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97626140]]
NM_001320916 [[97515408, 97515523], [97582993, 97583121], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97636285, 97637023]] [[97515471, 97515523], [97582993, 97583121], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97636285, 97636372]]
NM_001164178 [[97515408, 97515523], [97582993, 97583121], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97637023]] [[97515471, 97515523], [97582993, 97583121], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97626140]]
NM_001312654 [[97515408, 97515523], [97570389, 97570563], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97637023]] [[97602162, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97626140]]
NM_001164183 [[97515672, 97516012], [97582993, 97583121], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97637023]] [[97604233, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97626140]]
NM_001164182 [[97515672, 97516012], [97582993, 97583121], [97599447, 97599565], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97637023]] [[97604233, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97626140]]
NM_001164179 [[97515672, 97516012], [97582993, 97583121], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97605353], [97607325, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97637023]] [[97515996, 97516012], [97582993, 97583121], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97605353], [97607325, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97626140]]
NM_001776 [[97515672, 97516012], [97582993, 97583121], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97637023]] [[97515996, 97516012], [97582993, 97583121], [97599447, 97599565], [97602100, 97602251], [97604232, 97604392], [97605113, 97605353], [97607202, 97607463], [97620225, 97620339], [97624480, 97624618], [97625933, 97626140]]
Promoter
Chrom Start End Description
chr10 97471508 97471529 CAGE_peak_6_at_ENTPD1_5end
chr10 97501785 97501801 CAGE_peak_9_at_ENTPD1_5end
chr10 97515409 97515442 CAGE_peak_4_at_ENTPD1_5end
chr10 97515449 97515460 CAGE_peak_5_at_ENTPD1_5end
chr10 97515494 97515508 CAGE_peak_2_at_ENTPD1_5end
chr10 97515882 97515893 CAGE_peak_3_at_ENTPD1_5end
chr10 97515907 97515927 CAGE_peak_1_at_ENTPD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I095696 95696848 95698600 0.72 [{'connected_gene': 'ZNF518A', 'score': 10.15}, {'connected_gene': 'TCTN3', 'score': 8.98}, {'connected_gene': 'CC2D2B', 'score': 8.89}, {'connected_gene': 'ENTPD1', 'score': 0.39}]
chr10 GH10I095963 95963459 95964241 0.63 [{'connected_gene': 'ENTPD1', 'score': 8.62}, {'connected_gene': 'GC10M096000', 'score': 0.28}, {'connected_gene': 'CC2D2B', 'score': 0.22}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.13}]
chr10 GH10I095755 95755084 95763040 2.64 [{'connected_gene': 'ENTPD1', 'score': 573.34}, {'connected_gene': 'CC2D2B', 'score': 9.23}, {'connected_gene': 'TCTN3', 'score': 8.51}, {'connected_gene': 'ALDH18A1', 'score': 5.45}, {'connected_gene': 'GC10M095714', 'score': 0.25}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.06}]
chr10 GH10I095741 95741306 95744395 1.3 [{'connected_gene': 'ENTPD1', 'score': 31.53}, {'connected_gene': 'TCTN3', 'score': 20.67}, {'connected_gene': 'PDLIM1', 'score': 4.94}, {'connected_gene': 'GC10M095714', 'score': 0.21}]
chr10 GH10I095795 95795792 95796944 0.2 [{'connected_gene': 'ENTPD1', 'score': 30.04}, {'connected_gene': 'TCTN3', 'score': 10.91}, {'connected_gene': 'GC10M095714', 'score': 0.44}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.06}]
chr10 GH10I095788 95788401 95789608 0.78 [{'connected_gene': 'ENTPD1', 'score': 30.07}, {'connected_gene': 'TCTN3', 'score': 19.22}, {'connected_gene': 'GC10M095714', 'score': 0.37}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.06}]
chr10 GH10I095813 95813407 95814972 0.94 [{'connected_gene': 'ENTPD1', 'score': 18.19}, {'connected_gene': 'TCTN3', 'score': 8.42}, {'connected_gene': 'GC10M095714', 'score': 0.44}, {'connected_gene': 'ENSG00000240527', 'score': 0.37}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.06}]
chr10 GH10I095840 95840078 95842673 1.2 [{'connected_gene': 'ENTPD1', 'score': 30.84}, {'connected_gene': 'TCTN3', 'score': 20.15}, {'connected_gene': 'ENSG00000240527', 'score': 0.44}, {'connected_gene': 'PIR40431', 'score': 0.44}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.07}]
chr10 GH10I095644 95644168 95648139 0.82 [{'connected_gene': 'ENTPD1', 'score': 20.15}, {'connected_gene': 'TCTN3', 'score': 10.61}, {'connected_gene': 'ALDH18A1', 'score': 9.22}, {'connected_gene': 'PDLIM1', 'score': 4.91}, {'connected_gene': 'PIR60482', 'score': 0.34}]
chr10 GH10I095810 95810144 95812095 0.2 [{'connected_gene': 'ENTPD1', 'score': 19.34}, {'connected_gene': 'TCTN3', 'score': 8.43}, {'connected_gene': 'ALDH18A1', 'score': 4.52}, {'connected_gene': 'GC10M095714', 'score': 0.44}, {'connected_gene': 'ENSG00000240527', 'score': 0.34}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.06}]
chr10 GH10I095895 95895914 95896729 0.52 [{'connected_gene': 'ENTPD1', 'score': 16.95}, {'connected_gene': 'TCTN3', 'score': 10.53}, {'connected_gene': 'ALDH18A1', 'score': 4.16}, {'connected_gene': 'PIR62915', 'score': 0.44}, {'connected_gene': 'PIR60073', 'score': 0.34}, {'connected_gene': 'ENSG00000270099', 'score': 0.28}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.08}]
chr10 GH10I095791 95791346 95795399 1.21 [{'connected_gene': 'ENTPD1', 'score': 18.56}, {'connected_gene': 'TCTN3', 'score': 9.43}, {'connected_gene': 'ALDH18A1', 'score': 5.42}, {'connected_gene': 'GC10M095714', 'score': 0.39}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.06}]
chr10 GH10I095817 95817981 95822200 1.47 [{'connected_gene': 'ENTPD1', 'score': 30.31}, {'connected_gene': 'TCTN3', 'score': 20.41}, {'connected_gene': 'ALDH18A1', 'score': 5.49}, {'connected_gene': 'SORBS1', 'score': 1.7}, {'connected_gene': 'ENSG00000240527', 'score': 0.39}, {'connected_gene': 'GC10M095714', 'score': 0.39}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.06}]
chr10 GH10I095766 95766707 95770854 1.47 [{'connected_gene': 'ENTPD1', 'score': 34.1}, {'connected_gene': 'TCTN3', 'score': 19.38}, {'connected_gene': 'CC2D2B', 'score': 9.24}, {'connected_gene': 'ENTPD1-AS1', 'score': 5.55}, {'connected_gene': 'ALDH18A1', 'score': 4.54}, {'connected_gene': 'ZNF518A', 'score': 1.47}, {'connected_gene': 'GC10M095714', 'score': 0.28}]
chr10 GH10I095781 95781616 95788221 1.46 [{'connected_gene': 'ENTPD1', 'score': 36.12}, {'connected_gene': 'TCTN3', 'score': 20.92}, {'connected_gene': 'CC2D2B', 'score': 8.12}, {'connected_gene': 'BLNK', 'score': 1.34}, {'connected_gene': 'GC10M095714', 'score': 0.34}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.06}]
chr10 GH10I095511 95511140 95516400 1.18 [{'connected_gene': 'ENTPD1', 'score': 5.17}, {'connected_gene': 'TCTN3', 'score': 4.6}, {'connected_gene': 'GC10M095525', 'score': 0.39}, {'connected_gene': 'SORBS1', 'score': 0.25}, {'connected_gene': 'PIR43800', 'score': 0.16}]
chr10 GH10I095745 95745801 95746000 0.58 [{'connected_gene': 'ENTPD1', 'score': 11.29}, {'connected_gene': 'TCTN3', 'score': 11.23}, {'connected_gene': 'GC10M095714', 'score': 0.22}]
chr10 GH10I095516 95516623 95520178 1.3 [{'connected_gene': 'ENTPD1', 'score': 5.13}, {'connected_gene': 'GC10M095525', 'score': 0.44}, {'connected_gene': 'SORBS1', 'score': 0.26}, {'connected_gene': 'PIR43800', 'score': 0.15}]
chr10 GH10I095554 95554500 95556594 0.46 [{'connected_gene': 'ENTPD1', 'score': 4.7}, {'connected_gene': 'SORBS1', 'score': 0.44}, {'connected_gene': 'GC10M095545', 'score': 0.44}]
chr10 GH10I095711 95711715 95711774 0.5 [{'connected_gene': 'ENTPD1', 'score': 550.77}, {'connected_gene': 'GC10M095714', 'score': 0.16}]
chr10 GH10I095286 95286324 95298104 2.75 [{'connected_gene': 'PDLIM1', 'score': 561.82}, {'connected_gene': 'TBC1D12', 'score': 4.53}, {'connected_gene': 'CYP2C8', 'score': 4.11}, {'connected_gene': 'ENTPD1', 'score': 3.56}, {'connected_gene': 'SORBS1', 'score': 1.4}, {'connected_gene': 'GC10M095392', 'score': 0.15}]
chr10 GH10I095654 95654428 95657458 2.21 [{'connected_gene': 'ALDH18A1', 'score': 560.99}, {'connected_gene': 'ZNF518A', 'score': 20.65}, {'connected_gene': 'TCTN3', 'score': 17.14}, {'connected_gene': 'ENTPD1', 'score': 10.37}, {'connected_gene': 'PIR60482', 'score': 0.29}]
chr10 GH10I095634 95634078 95637374 1.01 [{'connected_gene': 'ALDH18A1', 'score': 22.79}, {'connected_gene': 'ENTPD1', 'score': 19.94}, {'connected_gene': 'TCTN3', 'score': 10.58}, {'connected_gene': 'CC2D2B', 'score': 4.21}, {'connected_gene': 'PIR60482', 'score': 0.39}]
chr10 GH10I095603 95603539 95606042 0.51 [{'connected_gene': 'ALDH18A1', 'score': 10.84}, {'connected_gene': 'PDLIM1', 'score': 10.11}, {'connected_gene': 'TCTN3', 'score': 8.07}, {'connected_gene': 'ENTPD1', 'score': 5.12}, {'connected_gene': 'RPS3AP36', 'score': 0.39}, {'connected_gene': 'PIR60482', 'score': 0.37}]
chr10 GH10I095612 95612061 95616931 0.76 [{'connected_gene': 'ALDH18A1', 'score': 10.38}, {'connected_gene': 'TCTN3', 'score': 8.04}, {'connected_gene': 'ENTPD1', 'score': 6.38}, {'connected_gene': 'ENTPD1-AS1', 'score': 5.34}, {'connected_gene': 'PIR60482', 'score': 0.44}, {'connected_gene': 'RPS3AP36', 'score': 0.37}]
chr10 GH10I095632 95632426 95633885 0.2 [{'connected_gene': 'ALDH18A1', 'score': 10.24}, {'connected_gene': 'TCTN3', 'score': 8.06}, {'connected_gene': 'ENTPD1', 'score': 5.79}, {'connected_gene': 'CC2D2B', 'score': 4.21}, {'connected_gene': 'PIR60482', 'score': 0.39}]
chr10 GH10I095906 95906601 95908600 1.99 [{'connected_gene': 'CC2D2B', 'score': 550.77}, {'connected_gene': 'ENTPD1', 'score': 14.2}, {'connected_gene': 'OPALIN', 'score': 9.25}, {'connected_gene': 'TCTN3', 'score': 6.51}, {'connected_gene': 'PIR62915', 'score': 0.44}, {'connected_gene': 'ENSG00000270099', 'score': 0.25}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.09}]
chr10 GH10I095778 95778512 95781258 0.43 [{'connected_gene': 'TCTN3', 'score': 20.15}, {'connected_gene': 'ENTPD1', 'score': 10.91}, {'connected_gene': 'ENTPD1-AS1', 'score': 5.79}, {'connected_gene': 'GC10M095714', 'score': 0.31}]
chr10 GH10I095797 95797652 95798850 0.2 [{'connected_gene': 'TCTN3', 'score': 19.36}, {'connected_gene': 'ENTPD1', 'score': 11.09}, {'connected_gene': 'GC10M095714', 'score': 0.44}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.06}]
chr10 GH10I095880 95880497 95880901 0.63 [{'connected_gene': 'TCTN3', 'score': 5.54}, {'connected_gene': 'ENTPD1', 'score': 2.0}, {'connected_gene': 'PIR60073', 'score': 0.44}, {'connected_gene': 'ENSG00000270099', 'score': 0.34}, {'connected_gene': 'PIR62915', 'score': 0.34}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.08}]
chr10 GH10I095625 95625941 95631952 0.63 [{'connected_gene': 'TCTN3', 'score': 17.98}, {'connected_gene': 'ENTPD1', 'score': 17.77}, {'connected_gene': 'ALDH18A1', 'score': 10.22}, {'connected_gene': 'CC2D2B', 'score': 4.23}, {'connected_gene': 'PIR60482', 'score': 0.44}]
chr10 GH10I095640 95640473 95641656 0.85 [{'connected_gene': 'TCTN3', 'score': 18.44}, {'connected_gene': 'ENTPD1', 'score': 10.56}, {'connected_gene': 'ALDH18A1', 'score': 5.06}, {'connected_gene': 'PIR60482', 'score': 0.37}]
chr10 GH10I095729 95729394 95730513 1.04 [{'connected_gene': 'TCTN3', 'score': 20.16}, {'connected_gene': 'ENTPD1', 'score': 0.37}, {'connected_gene': 'GC10M095714', 'score': 0.18}]
chr10 GH10I095692 95692711 95694864 2.04 [{'connected_gene': 'TCTN3', 'score': 559.07}, {'connected_gene': 'ENTPD1', 'score': 11.78}, {'connected_gene': 'PIR39497', 'score': 0.31}]
chr10 GH10I095675 95675008 95677626 0.54 [{'connected_gene': 'TCTN3', 'score': 8.22}, {'connected_gene': 'ENTPD1-AS1', 'score': 6.14}, {'connected_gene': 'ENTPD1', 'score': 5.67}, {'connected_gene': 'ALDH18A1', 'score': 4.43}, {'connected_gene': 'PIR39497', 'score': 0.39}]
chr10 GH10I095829 95829629 95839487 1.63 [{'connected_gene': 'ENSG00000240527', 'score': 550.77}, {'connected_gene': 'ENTPD1', 'score': 31.06}, {'connected_gene': 'TCTN3', 'score': 20.2}, {'connected_gene': 'ENTPD1-AS1', 'score': 5.33}, {'connected_gene': 'ALDH18A1', 'score': 4.99}, {'connected_gene': 'PIR40431', 'score': 0.39}]
chr10 GH10I095844 95844476 95844535 0.5 [{'connected_gene': 'PIR40431', 'score': 550.77}, {'connected_gene': 'ENSG00000240527', 'score': 550.39}, {'connected_gene': 'ENTPD1', 'score': 11.23}, {'connected_gene': 'TCTN3', 'score': 11.22}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.07}]
chr10 GH10I095864 95864519 95865953 0.94 [{'connected_gene': 'PIR60185', 'score': 550.77}, {'connected_gene': 'ENTPD1', 'score': 30.45}, {'connected_gene': 'TCTN3', 'score': 19.94}, {'connected_gene': 'CC2D2B', 'score': 9.66}, {'connected_gene': 'ENSG00000270099', 'score': 0.77}, {'connected_gene': 'ENSG00000240527', 'score': 0.29}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.07}]
chr10 GH10I095866 95866104 95867050 0.63 [{'connected_gene': 'PIR58083', 'score': 550.77}, {'connected_gene': 'PIR60185', 'score': 550.77}, {'connected_gene': 'PIR35003', 'score': 550.77}, {'connected_gene': 'ENTPD1', 'score': 11.33}, {'connected_gene': 'TCTN3', 'score': 11.32}, {'connected_gene': 'CC2D2B', 'score': 9.66}, {'connected_gene': 'ENSG00000270099', 'score': 0.44}, {'connected_gene': 'ENSG00000240527', 'score': 0.29}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.07}]

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