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
ENST00000493615 [[110791014, 110791357], [110830876, 110831218], [110837502, 110837799], [110840967, 110841085], [110845030, 110845182], [110863745, 110863884], [110866249, 110866331], [110911197, 110911260], [110912046, 110912386]] [[110791266, 110791357], [110830876, 110831218], [110837502, 110837799], [110840967, 110841085], [110845030, 110845182], [110863745, 110863884], [110866249, 110866331], [110911197, 110911260], [110912046, 110912226]]
ENST00000491525 [[110788917, 110788953], [110830876, 110831218], [110837502, 110837688]] [[110837636, 110837688]]
ENST00000461477 [[110788961, 110789176], [110830876, 110831218], [110837502, 110837531]] [[110789157, 110789176], [110830876, 110831218], [110837502, 110837531]]
ENST00000485303 [[110790589, 110791024], [110830876, 110831218], [110837502, 110837799], [110840967, 110841085], [110845030, 110845182], [110852481, 110854801]] [[110790864, 110791024], [110830876, 110831218], [110837502, 110837799], [110840967, 110841085], [110845030, 110845182], [110852481, 110853062]]
ENST00000319792 [[110790714, 110791024], [110830876, 110831218], [110837502, 110837799], [110840967, 110841085], [110845030, 110845182], [110852507, 110852837]] [[110790864, 110791024], [110830876, 110831218], [110837502, 110837799], [110840967, 110841085], [110845030, 110845182], [110852507, 110852539]]
ENST00000486596 [[110790866, 110791024], [110830876, 110831218], [110840967, 110841085], [110845030, 110845144]] [[110790866, 110791024], [110830876, 110831218], [110840967, 110841085], [110845030, 110845144]]
ENST00000488016 [[110791340, 110791834], [110830876, 110831211]] None
ENST00000470618 [[110792262, 110792338], [110830876, 110831218], [110837502, 110837638]] None
ENST00000481766 [[110793050, 110793097], [110796031, 110796124], [110830876, 110831218], [110837502, 110837550]] [[110793075, 110793097], [110796031, 110796124], [110830876, 110831218], [110837502, 110837550]]
ENST00000478327 [[110793741, 110794089], [110796031, 110796124], [110830856, 110830964]] None
ENST00000485506 [[110911197, 110911260], [110994159, 110994410]] [[110911197, 110911260], [110994159, 110994192]]
NM_001243288 [[110791014, 110791357], [110830876, 110831218], [110837502, 110837799], [110840967, 110841085], [110845030, 110845182], [110863745, 110863884], [110866249, 110866331], [110911197, 110911260], [110912046, 110913017]] [[110791266, 110791357], [110830876, 110831218], [110837502, 110837799], [110840967, 110841085], [110845030, 110845182], [110863745, 110863884], [110866249, 110866331], [110911197, 110911260], [110912046, 110912226]]
NM_001243286 [[110790605, 110791024], [110830876, 110831218], [110837502, 110837799], [110840967, 110841085], [110845030, 110845182], [110852507, 110856407]] [[110790864, 110791024], [110830876, 110831218], [110837502, 110837799], [110840967, 110841085], [110845030, 110845182], [110852507, 110852539]]
NM_015480 [[110790605, 110791024], [110830876, 110831218], [110837502, 110837799], [110840967, 110841085], [110845030, 110845182], [110852481, 110856407]] [[110790864, 110791024], [110830876, 110831218], [110837502, 110837799], [110840967, 110841085], [110845030, 110845182], [110852481, 110853062]]
Promoter
Chrom Start End Description
chr3 110790481 110790492 CAGE_peak_4_at_PVRL3_5end
chr3 110790546 110790562 CAGE_peak_3_at_PVRL3_5end
chr3 110790594 110790603 CAGE_peak_6_at_PVRL3_5end
chr3 110790620 110790683 CAGE_peak_1_at_PVRL3_5end
chr3 110790715 110790728 CAGE_peak_2_at_PVRL3_5end
chr3 110790904 110790935 CAGE_peak_7_at_PVRL3_5end
chr3 110791323 110791345 CAGE_peak_11_at_PVRL3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I110684 110684531 110687037 0.66 [{'connected_gene': 'NECTIN3', 'score': 5.54}, {'connected_gene': 'RPSAP29', 'score': 0.77}, {'connected_gene': 'GC03M110683', 'score': 0.44}]
chr3 GH03I110575 110575512 110580418 0.84 [{'connected_gene': 'NECTIN3', 'score': 19.06}, {'connected_gene': 'GC03M110552', 'score': 0.31}, {'connected_gene': 'RNU6ATAC15P', 'score': 0.31}, {'connected_gene': 'LOC105374037', 'score': 0.17}]
chr3 GH03I110567 110567694 110569346 0.49 [{'connected_gene': 'NECTIN3', 'score': 8.89}, {'connected_gene': 'GC03M110552', 'score': 0.37}, {'connected_gene': 'RNU6ATAC15P', 'score': 0.37}, {'connected_gene': 'LOC105374037', 'score': 0.15}]
chr3 GH03I110654 110654305 110656412 0.65 [{'connected_gene': 'NECTIN3', 'score': 5.63}, {'connected_gene': 'LOC105374037', 'score': 0.39}, {'connected_gene': 'GC03M110552', 'score': 0.15}, {'connected_gene': 'RNU6ATAC15P', 'score': 0.15}]
chr3 GH03I110412 110412606 110416472 0.84 [{'connected_gene': 'NECTIN3', 'score': 5.69}, {'connected_gene': 'LOC105374036', 'score': 0.29}, {'connected_gene': 'PIR42724', 'score': 0.25}]
chr3 GH03I110520 110520084 110522619 0.85 [{'connected_gene': 'NECTIN3', 'score': 20.08}, {'connected_gene': 'ENSG00000240895', 'score': 0.44}, {'connected_gene': 'LOC105374036', 'score': 0.19}]
chr3 GH03I111277 111277354 111277503 0.51 [{'connected_gene': 'NECTIN3', 'score': 9.49}, {'connected_gene': 'NECTIN3-AS1', 'score': 9.49}, {'connected_gene': 'LOC105374038', 'score': 0.44}, {'connected_gene': 'GC03M111287', 'score': 0.39}]
chr3 GH03I111281 111281645 111286919 0.49 [{'connected_gene': 'NECTIN3', 'score': 9.45}, {'connected_gene': 'NECTIN3-AS1', 'score': 9.45}, {'connected_gene': 'GC03M111287', 'score': 0.77}, {'connected_gene': 'LOC105374038', 'score': 0.39}]
chr3 GH03I111044 111044278 111045015 0.31 [{'connected_gene': 'NECTIN3', 'score': 11.27}, {'connected_gene': 'NECTIN3-AS1', 'score': 11.27}, {'connected_gene': 'GC03M111020', 'score': 0.44}, {'connected_gene': 'PIR53960', 'score': 0.39}]
chr3 GH03I111045 111045391 111047496 0.51 [{'connected_gene': 'NECTIN3', 'score': 11.53}, {'connected_gene': 'NECTIN3-AS1', 'score': 11.5}, {'connected_gene': 'PIR53960', 'score': 0.44}, {'connected_gene': 'GC03M111020', 'score': 0.39}]
chr3 GH03I111047 111047801 111048843 0.77 [{'connected_gene': 'NECTIN3', 'score': 11.57}, {'connected_gene': 'NECTIN3-AS1', 'score': 11.57}, {'connected_gene': 'PIR53960', 'score': 0.44}, {'connected_gene': 'GC03M111020', 'score': 0.39}]
chr3 GH03I111069 111069936 111074410 1.87 [{'connected_gene': 'NECTIN3', 'score': 550.77}, {'connected_gene': 'NECTIN3-AS1', 'score': 550.77}, {'connected_gene': 'GC03M111070', 'score': 0.44}]
chr3 GH03I110742 110742874 110743871 0.81 [{'connected_gene': 'NECTIN3', 'score': 6.09}, {'connected_gene': 'ENSG00000201426', 'score': 0.37}, {'connected_gene': 'GC03P110810', 'score': 0.2}]
chr3 GH03I110772 110772439 110775567 0.86 [{'connected_gene': 'NECTIN3', 'score': 3.93}, {'connected_gene': 'GC03P110810', 'score': 0.28}, {'connected_gene': 'ENSG00000201426', 'score': 0.25}]
chr3 GH03I110709 110709473 110712643 0.65 [{'connected_gene': 'NECTIN3', 'score': 4.97}, {'connected_gene': 'GC03P110705', 'score': 0.44}, {'connected_gene': 'GC03P110728', 'score': 0.37}]
chr3 GH03I111237 111237414 111237603 0.2 [{'connected_gene': 'LOC105374038', 'score': 0.29}, {'connected_gene': 'GC03P111199', 'score': 0.28}, {'connected_gene': 'NECTIN3', 'score': 0.1}]
chr3 GH03I111246 111246701 111247883 0.57 [{'connected_gene': 'LOC105374038', 'score': 0.34}, {'connected_gene': 'GC03P111199', 'score': 0.25}, {'connected_gene': 'NECTIN3', 'score': 0.1}]
chr3 GH03I111238 111238469 111239442 0.31 [{'connected_gene': 'LOC105374038', 'score': 0.29}, {'connected_gene': 'GC03P111199', 'score': 0.28}, {'connected_gene': 'NECTIN3', 'score': 0.1}]
chr3 GH03I110526 110526206 110529462 0.97 [{'connected_gene': 'ENSG00000240895', 'score': 550.77}, {'connected_gene': 'NECTIN3', 'score': 20.08}, {'connected_gene': 'RNU6ATAC15P', 'score': 12.56}, {'connected_gene': 'LOC105374036', 'score': 0.18}]
chr3 GH03I111033 111033834 111033983 0.38 [{'connected_gene': 'GC03M111020', 'score': 550.77}, {'connected_gene': 'NECTIN3', 'score': 11.13}, {'connected_gene': 'NECTIN3-AS1', 'score': 11.13}, {'connected_gene': 'LOC151760', 'score': 0.21}]
chr3 GH03I111087 111087733 111088451 0.31 [{'connected_gene': 'GC03M111070', 'score': 0.39}, {'connected_gene': 'NECTIN3', 'score': 0.37}, {'connected_gene': 'GC03P111199', 'score': 0.14}]
chr3 GH03I111151 111151574 111151723 0.63 [{'connected_gene': 'GC03P111199', 'score': 0.25}, {'connected_gene': 'GC03M111070', 'score': 0.19}, {'connected_gene': 'NECTIN3', 'score': 0.18}]
chr3 GH03I111078 111078201 111078400 0.2 [{'connected_gene': 'GC03M111070', 'score': 550.77}, {'connected_gene': 'NECTIN3', 'score': 0.44}, {'connected_gene': 'GC03P111199', 'score': 0.13}]
chr3 GH03I111210 111210974 111211123 0.31 [{'connected_gene': 'GC03P111199', 'score': 0.39}, {'connected_gene': 'LOC105374038', 'score': 0.22}, {'connected_gene': 'NECTIN3', 'score': 0.11}]