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
ENST00000393203 [[117452678, 117452874], [117484336, 117484705], [117487300, 117487714], [117491813, 117492194], [117503864, 117504290], [117509532, 117509952], [117516837, 117516945], [117527301, 117527607], [117529422, 117532980]] [[117452825, 117452874], [117484336, 117484705], [117487300, 117487714], [117491813, 117492194], [117503864, 117504290], [117509532, 117509952], [117516837, 117516945], [117527301, 117527607], [117529422, 117529589]]
ENST00000496699 [[117509681, 117509952], [117516837, 117517119]] None
ENST00000497385 [[117529661, 117529706], [117532560, 117532972]] None
NM_020440 [[117452544, 117452874], [117484336, 117484705], [117487300, 117487714], [117491813, 117492194], [117503864, 117504290], [117509532, 117509952], [117516837, 117516945], [117527301, 117527607], [117529422, 117532980]] [[117452825, 117452874], [117484336, 117484705], [117487300, 117487714], [117491813, 117492194], [117503864, 117504290], [117509532, 117509952], [117516837, 117516945], [117527301, 117527607], [117529422, 117529589]]
Promoter
Chrom Start End Description
chr1 117452491 117452579 CAGE_peak_1_at_PTGFRN_5end
chr1 117452669 117452748 CAGE_peak_2_at_PTGFRN_5end
chr1 117530211 117530214 CAGE_peak_3_at_PTGFRN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I116986 116986405 116992086 1.42 [{'connected_gene': 'CD101', 'score': 18.75}, {'connected_gene': 'PTGFRN', 'score': 8.79}, {'connected_gene': 'CD58', 'score': 5.79}, {'connected_gene': 'RNA5SP55', 'score': 0.31}]
chr1 GH01I116885 116885886 116887620 0.83 [{'connected_gene': 'CD101', 'score': 18.45}, {'connected_gene': 'PTGFRN', 'score': 11.59}, {'connected_gene': 'CD2', 'score': 10.45}, {'connected_gene': 'C1orf137', 'score': 9.41}, {'connected_gene': 'LOC105378927', 'score': 0.77}, {'connected_gene': 'ENSG00000272715', 'score': 0.34}]
chr1 GH01I117000 117000242 117004600 1.64 [{'connected_gene': 'CD101', 'score': 565.79}, {'connected_gene': 'PTGFRN', 'score': 9.06}, {'connected_gene': 'PIR49222', 'score': 0.25}]
chr1 GH01I116918 116918533 116922162 1.25 [{'connected_gene': 'CD101', 'score': 6.45}, {'connected_gene': 'PTGFRN', 'score': 0.39}, {'connected_gene': 'PIR48772', 'score': 0.28}]
chr1 GH01I116913 116913671 116918033 1.12 [{'connected_gene': 'CD2', 'score': 9.85}, {'connected_gene': 'CD101', 'score': 4.57}, {'connected_gene': 'PTGFRN', 'score': 0.44}, {'connected_gene': 'PIR48772', 'score': 0.26}]
chr1 GH01I116926 116926673 116932030 0.76 [{'connected_gene': 'CD2', 'score': 10.15}, {'connected_gene': 'CD101', 'score': 10.05}, {'connected_gene': 'IGSF3', 'score': 9.75}, {'connected_gene': 'C1orf137', 'score': 9.47}, {'connected_gene': 'PTGFRN', 'score': 0.37}, {'connected_gene': 'PIR48772', 'score': 0.31}]
chr1 GH01I116823 116823744 116828652 1.47 [{'connected_gene': 'ATP1A1-AS1', 'score': 27.63}, {'connected_gene': 'MAN1A2', 'score': 22.81}, {'connected_gene': 'IGSF3', 'score': 10.74}, {'connected_gene': 'CD2', 'score': 10.72}, {'connected_gene': 'PTGFRN', 'score': 10.63}, {'connected_gene': 'MIR320B1', 'score': 9.84}, {'connected_gene': 'FTH1P22', 'score': 0.23}, {'connected_gene': 'LOC105378927', 'score': 0.22}]
chr1 GH01I116949 116949482 116952476 0.64 [{'connected_gene': 'PTGFRN', 'score': 11.19}, {'connected_gene': 'CD101', 'score': 10.56}, {'connected_gene': 'C1orf137', 'score': 10.01}, {'connected_gene': 'PIR48772', 'score': 0.44}]
chr1 GH01I116997 116997159 116997308 0.4 [{'connected_gene': 'PTGFRN', 'score': 6.65}, {'connected_gene': 'CD101', 'score': 0.77}, {'connected_gene': 'RNA5SP55', 'score': 0.29}]
chr1 GH01I117007 117007140 117008017 1.04 [{'connected_gene': 'PTGFRN', 'score': 18.92}, {'connected_gene': 'CD101', 'score': 7.77}, {'connected_gene': 'PIR49222', 'score': 0.26}]
chr1 GH01I117008 117008739 117010113 0.71 [{'connected_gene': 'PTGFRN', 'score': 10.94}, {'connected_gene': 'CD101', 'score': 6.16}, {'connected_gene': 'PIR49222', 'score': 0.26}]
chr1 GH01I117017 117017819 117017968 0.46 [{'connected_gene': 'PTGFRN', 'score': 8.54}, {'connected_gene': 'CD101', 'score': 0.37}, {'connected_gene': 'PIR49222', 'score': 0.29}]
chr1 GH01I116859 116859652 116860577 0.2 [{'connected_gene': 'PTGFRN', 'score': 11.95}, {'connected_gene': 'CD2', 'score': 10.65}, {'connected_gene': 'IGSF3', 'score': 10.4}, {'connected_gene': 'CD101', 'score': 10.02}, {'connected_gene': 'MIR320B1', 'score': 9.86}, {'connected_gene': 'LOC105378927', 'score': 0.34}, {'connected_gene': 'FTH1P22', 'score': 0.18}]
chr1 GH01I116852 116852173 116857206 1.38 [{'connected_gene': 'PTGFRN', 'score': 11.93}, {'connected_gene': 'CD2', 'score': 10.65}, {'connected_gene': 'MIR320B1', 'score': 9.86}, {'connected_gene': 'IGSF3', 'score': 9.86}, {'connected_gene': 'CD101', 'score': 8.35}, {'connected_gene': 'LOC105378927', 'score': 0.31}, {'connected_gene': 'FTH1P22', 'score': 0.18}]
chr1 GH01I116858 116858655 116859423 0.69 [{'connected_gene': 'PTGFRN', 'score': 11.94}, {'connected_gene': 'CD2', 'score': 10.65}, {'connected_gene': 'MIR320B1', 'score': 9.86}, {'connected_gene': 'IGSF3', 'score': 9.86}, {'connected_gene': 'LOC105378927', 'score': 0.34}, {'connected_gene': 'FTH1P22', 'score': 0.18}]
chr1 GH01I116981 116981164 116984191 0.92 [{'connected_gene': 'PTGFRN', 'score': 8.52}, {'connected_gene': 'TTF2', 'score': 5.34}, {'connected_gene': 'CD101', 'score': 0.37}, {'connected_gene': 'RNA5SP55', 'score': 0.34}]
chr1 GH01I116947 116947043 116948706 0.52 [{'connected_gene': 'PTGFRN', 'score': 11.13}, {'connected_gene': 'C1orf137', 'score': 10.01}, {'connected_gene': 'CD101', 'score': 4.47}, {'connected_gene': 'PIR48772', 'score': 0.39}]
chr1 GH01I116870 116870459 116870608 0.2 [{'connected_gene': 'PTGFRN', 'score': 11.03}, {'connected_gene': 'C1orf137', 'score': 10.4}, {'connected_gene': 'LOC105378927', 'score': 0.39}, {'connected_gene': 'FTH1P22', 'score': 0.16}]
chr1 GH01I116908 116908968 116912555 2.17 [{'connected_gene': 'PTGFRN', 'score': 550.77}, {'connected_gene': 'ENSG00000272715', 'score': 550.77}, {'connected_gene': 'MAN1A2', 'score': 11.54}, {'connected_gene': 'CD2', 'score': 9.86}, {'connected_gene': 'PIR48772', 'score': 0.25}]
chr1 GH01I116923 116923479 116923628 0.69 [{'connected_gene': 'PTGFRN', 'score': 0.39}, {'connected_gene': 'PIR48772', 'score': 0.29}]
chr1 GH01I116636 116636833 116638477 0.64 [{'connected_gene': 'C1orf137', 'score': 11.27}, {'connected_gene': 'IGSF3', 'score': 10.84}, {'connected_gene': 'MIR320B1', 'score': 10.84}, {'connected_gene': 'PTGFRN', 'score': 9.81}, {'connected_gene': 'LOC105378924', 'score': 0.25}]
chr1 GH01I116637 116636219 116636368 0.49 [{'connected_gene': 'C1orf137', 'score': 10.96}, {'connected_gene': 'IGSF3', 'score': 10.84}, {'connected_gene': 'MIR320B1', 'score': 10.83}, {'connected_gene': 'PTGFRN', 'score': 9.81}, {'connected_gene': 'LOC105378924', 'score': 0.26}]
chr1 GH01I116877 116877161 116880253 1.54 [{'connected_gene': 'MAN1A2', 'score': 41.25}, {'connected_gene': 'ATP1A1-AS1', 'score': 39.48}, {'connected_gene': 'PTGFRN', 'score': 11.39}, {'connected_gene': 'CD2', 'score': 10.77}, {'connected_gene': 'CD101', 'score': 10.29}, {'connected_gene': 'TRIM45', 'score': 9.97}, {'connected_gene': 'TTF2', 'score': 1.63}, {'connected_gene': 'LOC105378927', 'score': 0.77}, {'connected_gene': 'FTH1P22', 'score': 0.15}]
chr1 GH01I116880 116880576 116883037 1.42 [{'connected_gene': 'LOC105378927', 'score': 550.77}, {'connected_gene': 'PTGFRN', 'score': 13.04}, {'connected_gene': 'IGSF3', 'score': 10.65}, {'connected_gene': 'MIR320B1', 'score': 10.65}, {'connected_gene': 'CD101', 'score': 9.4}, {'connected_gene': 'FTH1P22', 'score': 0.14}]
chr1 GH01I116963 116963001 116963200 0.38 [{'connected_gene': 'RNA5SP55', 'score': 550.77}, {'connected_gene': 'CD101', 'score': 0.28}, {'connected_gene': 'PTGFRN', 'score': 0.23}]
chr1 GH01I116933 116933699 116933848 0.46 [{'connected_gene': 'PIR48772', 'score': 0.34}, {'connected_gene': 'PTGFRN', 'score': 0.34}]
chr1 GH01I116934 116934959 116935108 0.74 [{'connected_gene': 'PIR48772', 'score': 0.34}, {'connected_gene': 'PTGFRN', 'score': 0.31}]
chr1 GH01I116954 116954326 116955208 0.38 [{'connected_gene': 'PIR48772', 'score': 0.77}, {'connected_gene': 'PTGFRN', 'score': 0.26}]

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