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
ENST00000371224 [[97365695, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393247, 97393406], [97396849, 97396954], [97397043, 97397193], [97402748, 97402963], [97413046, 97413162], [97416353, 97416463]] [[97366518, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393247, 97393406], [97396849, 97396954], [97397043, 97397193], [97402748, 97402963], [97413046, 97413134]]
ENST00000371221 [[97365701, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393253, 97393406], [97396849, 97396954], [97397043, 97397193], [97402748, 97402963], [97413046, 97413162], [97416353, 97416463]] [[97366518, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393253, 97393406], [97396849, 97396954], [97397043, 97397193], [97402748, 97402963], [97413046, 97413134]]
ENST00000489386 [[97385186, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97388437, 97388610]] None
ENST00000485428 [[97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376454]] None
ENST00000483788 [[97396849, 97396954], [97397043, 97397193], [97402748, 97402963], [97413046, 97413162], [97416202, 97416366]] None
NM_001323414 [[97365685, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393247, 97393406], [97396849, 97396954], [97397043, 97397193], [97402748, 97402963], [97413046, 97413162], [97416045, 97416279]] [[97366518, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393247, 97393406], [97396849, 97396954], [97397043, 97397193], [97402748, 97402963], [97413046, 97413134]]
NM_001323413 [[97365685, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393247, 97393406], [97396849, 97396954], [97397043, 97397193], [97402748, 97402963], [97413046, 97413162], [97416202, 97416567]] [[97366518, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393247, 97393406], [97396849, 97396954], [97397043, 97397193], [97402748, 97402963], [97413046, 97413134]]
NM_001323415 [[97365685, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393253, 97393406], [97396849, 97396954], [97397043, 97397193], [97402748, 97402963], [97413046, 97413162], [97416202, 97416567]] [[97366518, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393253, 97393406], [97396849, 97396954], [97397043, 97397193], [97402748, 97402963], [97413046, 97413134]]
NM_001323416 [[97365685, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393247, 97393406], [97396849, 97396954], [97397043, 97397193], [97413046, 97413162], [97416202, 97416567]] [[97366518, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393247, 97393406], [97396849, 97396954], [97397043, 97397163]]
NM_001323418 [[97365685, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393253, 97393406], [97396849, 97396954], [97397043, 97397193], [97413046, 97413162], [97416202, 97416567]] [[97366518, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393253, 97393406], [97396849, 97396954], [97397043, 97397163]]
NM_002860 [[97365685, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393247, 97393406], [97396849, 97396954], [97397043, 97397193], [97402748, 97402963], [97413046, 97413162], [97416353, 97416567]] [[97366518, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393247, 97393406], [97396849, 97396954], [97397043, 97397193], [97402748, 97402963], [97413046, 97413134]]
NM_001017423 [[97365685, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393253, 97393406], [97396849, 97396954], [97397043, 97397193], [97402748, 97402963], [97413046, 97413162], [97416353, 97416567]] [[97366518, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393253, 97393406], [97396849, 97396954], [97397043, 97397193], [97402748, 97402963], [97413046, 97413134]]
NM_001323417 [[97365685, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393247, 97393406], [97397043, 97397193], [97402748, 97402963], [97413046, 97413162], [97416353, 97416567]] [[97366518, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393247, 97393406], [97397043, 97397193], [97402748, 97402963], [97413046, 97413134]]
NM_001323412 [[97365685, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393247, 97393406], [97396849, 97396954], [97397043, 97397193], [97413046, 97413162], [97416353, 97416567]] [[97366518, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393247, 97393406], [97396849, 97396954], [97397043, 97397163]]
NM_001323419 [[97365685, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393247, 97393406], [97413046, 97413162], [97416353, 97416567]] [[97366518, 97366700], [97369953, 97370049], [97371012, 97371199], [97373498, 97373620], [97373722, 97373918], [97376233, 97376371], [97380787, 97381008], [97385118, 97385212], [97386459, 97386533], [97387198, 97387343], [97388124, 97388249], [97392715, 97392806], [97393247, 97393328]]
Promoter
Chrom Start End Description
chr10 97416400 97416512 CAGE_peak_1_at_ALDH18A1_5end
chr10 97416557 97416573 CAGE_peak_3_at_ALDH18A1_5end
chr10 97416581 97416605 CAGE_peak_2_at_ALDH18A1_5end
chr10 97416616 97416625 CAGE_peak_4_at_ALDH18A1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I096579 96579668 96582325 1.38 [{'connected_gene': 'ZNF518A', 'score': 82.98}, {'connected_gene': 'TCTN3', 'score': 59.36}, {'connected_gene': 'MMS19', 'score': 55.51}, {'connected_gene': 'CCNJ', 'score': 46.66}, {'connected_gene': 'LCOR', 'score': 31.1}, {'connected_gene': 'EXOSC1', 'score': 28.84}, {'connected_gene': 'NPM1P26', 'score': 26.77}, {'connected_gene': 'TM9SF3', 'score': 12.22}, {'connected_gene': 'MIR607', 'score': 10.61}, {'connected_gene': 'ALDH18A1', 'score': 10.08}, {'connected_gene': 'ENTPD1-AS1', 'score': 9.82}, {'connected_gene': 'LOC105378443', 'score': 0.44}]
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 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 GH10I096513 96513000 96514394 1.93 [{'connected_gene': 'TLL2', 'score': 556.79}, {'connected_gene': 'NPM1P26', 'score': 27.9}, {'connected_gene': 'ZNF518A', 'score': 24.06}, {'connected_gene': 'TCTN3', 'score': 11.76}, {'connected_gene': 'EXOSC1', 'score': 10.2}, {'connected_gene': 'ALDH18A1', 'score': 10.08}, {'connected_gene': 'MMS19', 'score': 9.69}, {'connected_gene': 'GC10M096095', '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 GH10I095617 95617177 95618482 0.31 [{'connected_gene': 'ALDH18A1', 'score': 10.2}, {'connected_gene': 'TCTN3', 'score': 8.04}, {'connected_gene': 'PIR60482', 'score': 0.77}, {'connected_gene': 'RPS3AP36', 'score': 0.34}]
chr10 GH10I095655 95654004 95654153 0.4 [{'connected_gene': 'ALDH18A1', 'score': 0.77}, {'connected_gene': 'PIR60482', 'score': 0.29}]
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 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 GH10I095564 95564449 95567144 0.66 [{'connected_gene': 'TCTN3', 'score': 7.4}, {'connected_gene': 'ALDH18A1', 'score': 6.72}, {'connected_gene': 'ENTPD1-AS1', 'score': 5.04}, {'connected_gene': 'SORBS1', 'score': 0.77}, {'connected_gene': 'RPS3AP36', 'score': 0.31}]
chr10 GH10I095558 95558467 95563231 2.47 [{'connected_gene': 'SORBS1', 'score': 570.06}, {'connected_gene': 'TCTN3', 'score': 26.01}, {'connected_gene': 'CCNJ', 'score': 12.61}, {'connected_gene': 'ZNF518A', 'score': 9.83}, {'connected_gene': 'ALDH18A1', 'score': 5.5}, {'connected_gene': 'ACSM6', 'score': 1.52}, {'connected_gene': 'GC10M095545', 'score': 0.39}]
chr10 GH10I096623 96623290 96625734 0.38 [{'connected_gene': 'NPM1P26', 'score': 12.85}, {'connected_gene': 'ALDH18A1', 'score': 4.89}, {'connected_gene': 'RPS2P36', 'score': 0.77}, {'connected_gene': 'GC10M096631', 'score': 0.37}, {'connected_gene': 'PIK3AP1', 'score': 0.15}]
chr10 GH10I096626 96626377 96627739 0.52 [{'connected_gene': 'NPM1P26', 'score': 13.75}, {'connected_gene': 'ALDH18A1', 'score': 4.98}, {'connected_gene': 'RPS2P36', 'score': 0.44}, {'connected_gene': 'GC10M096631', 'score': 0.39}, {'connected_gene': 'PIK3AP1', 'score': 0.16}]
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}]

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