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
ENST00000361226 [[35490123, 35490169], [35546426, 35548532], [35555056, 35555698], [35555948, 35556134], [35556304, 35556445], [35557910, 35557987], [35558193, 35558368], [35558458, 35558564], [35559222, 35559269], [35560025, 35560848], [35560956, 35561094], [35561177, 35561889]] [[35546518, 35548532], [35555056, 35555698], [35555948, 35556134], [35556304, 35556445], [35557910, 35557987], [35558193, 35558368], [35558458, 35558564], [35559222, 35559269], [35560025, 35560848], [35560956, 35561094], [35561177, 35561379]]
ENST00000455600 [[35538628, 35539105], [35546426, 35548532], [35555056, 35555698], [35555948, 35556134], [35556304, 35556445], [35557910, 35557987], [35558193, 35558368], [35558458, 35558564], [35559222, 35559269], [35560025, 35560848], [35560956, 35561094], [35561177, 35561895]] [[35546518, 35548532], [35555056, 35555698], [35555948, 35556134], [35556304, 35556445], [35557910, 35557987], [35558193, 35558368], [35558458, 35558564], [35559222, 35559269], [35560025, 35560848], [35560956, 35561094], [35561177, 35561379]]
ENST00000468041 [[35538976, 35539105], [35546426, 35547233]] None
NM_001330740 [[35489829, 35490169], [35555056, 35555698], [35555948, 35556134], [35556304, 35556445], [35557910, 35557987], [35558193, 35558368], [35558458, 35558564], [35559222, 35559269], [35560025, 35560848], [35560956, 35561094], [35561177, 35561895]] [[35555676, 35555698], [35555948, 35556134], [35556304, 35556445], [35557910, 35557987], [35558193, 35558368], [35558458, 35558564], [35559222, 35559269], [35560025, 35560848], [35560956, 35561094], [35561177, 35561379]]
NR_052015 [[35489829, 35490169], [35546426, 35548207], [35555056, 35555698], [35555948, 35556134], [35556304, 35556445], [35557910, 35557987], [35558193, 35558368], [35558458, 35558564], [35559222, 35559269], [35560025, 35560848], [35560956, 35561094], [35561177, 35561895]] None
NM_014806 [[35489829, 35490169], [35546426, 35548532], [35555056, 35555698], [35555948, 35556134], [35556304, 35556445], [35557910, 35557987], [35558193, 35558368], [35558458, 35558564], [35559222, 35559269], [35560025, 35560848], [35560956, 35561094], [35561177, 35561895]] [[35546518, 35548532], [35555056, 35555698], [35555948, 35556134], [35556304, 35556445], [35557910, 35557987], [35558193, 35558368], [35558458, 35558564], [35559222, 35559269], [35560025, 35560848], [35560956, 35561094], [35561177, 35561379]]
NM_001135999 [[35538628, 35539105], [35546426, 35548532], [35555056, 35555698], [35555948, 35556134], [35556304, 35556445], [35557910, 35557987], [35558193, 35558368], [35558458, 35558564], [35559222, 35559269], [35560025, 35560848], [35560956, 35561094], [35561177, 35561895]] [[35546518, 35548532], [35555056, 35555698], [35555948, 35556134], [35556304, 35556445], [35557910, 35557987], [35558193, 35558368], [35558458, 35558564], [35559222, 35559269], [35560025, 35560848], [35560956, 35561094], [35561177, 35561379]]
Promoter
Chrom Start End Description
chr9 35489666 35489679 CAGE_peak_8_at_RUSC2_5end
chr9 35489804 35489854 CAGE_peak_6_at_RUSC2_5end
chr9 35489855 35489921 CAGE_peak_2_at_RUSC2_5end
chr9 35489936 35489947 CAGE_peak_19_at_RUSC2_5end
chr9 35489990 35489999 CAGE_peak_22_at_RUSC2_5end
chr9 35490000 35490012 CAGE_peak_9_at_RUSC2_5end
chr9 35490026 35490050 CAGE_peak_7_at_RUSC2_5end
chr9 35490064 35490094 CAGE_peak_4_at_RUSC2_5end
chr9 35490101 35490129 CAGE_peak_3_at_RUSC2_5end
chr9 35538616 35538650 CAGE_peak_5_at_RUSC2_5end
chr9 35538676 35538695 CAGE_peak_13_at_RUSC2_5end
chr9 35538849 35538947 CAGE_peak_1_at_RUSC2_5end
chr9 35547155 35547170 CAGE_peak_17_at_RUSC2_5end
chr9 35547554 35547568 CAGE_peak_10_at_RUSC2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I035552 35552276 35554931 1.2 [{'connected_gene': 'RUSC2', 'score': 12.33}, {'connected_gene': 'ENSG00000234181', 'score': 9.9}, {'connected_gene': 'PIGO', 'score': 9.9}, {'connected_gene': 'STOML2', 'score': 9.9}, {'connected_gene': 'OR13J1', 'score': 4.88}, {'connected_gene': 'ENSG00000227388', 'score': 4.24}, {'connected_gene': 'PIR61372', 'score': 0.44}, {'connected_gene': 'FAM166B', 'score': 0.39}]
chr9 GH09I035537 35537060 35540600 1.42 [{'connected_gene': 'RUSC2', 'score': 561.74}, {'connected_gene': 'FAM166B', 'score': 17.71}, {'connected_gene': 'OR13J1', 'score': 4.89}, {'connected_gene': 'PIR61372', 'score': 0.44}, {'connected_gene': 'RPL36AP33', 'score': 0.29}]
chr9 GH09I035514 35514529 35515056 0.2 [{'connected_gene': 'RUSC2', 'score': 4.56}, {'connected_gene': 'CCDC107', 'score': 3.95}, {'connected_gene': 'RPL36AP33', 'score': 0.44}, {'connected_gene': 'PIR61372', 'score': 0.29}]
chr9 GH09I035487 35487768 35493221 2.51 [{'connected_gene': 'RUSC2', 'score': 556.34}, {'connected_gene': 'LOC105376026', 'score': 550.77}, {'connected_gene': 'PIGO', 'score': 27.71}, {'connected_gene': 'RGP1', 'score': 13.06}, {'connected_gene': 'FANCG', 'score': 12.74}, {'connected_gene': 'ARHGEF39', 'score': 12.28}, {'connected_gene': 'TMEM8B', 'score': 11.3}, {'connected_gene': 'FAM214B', 'score': 10.7}, {'connected_gene': 'SPAG8', 'score': 10.52}, {'connected_gene': 'FAM166B', 'score': 10.35}, {'connected_gene': 'HMGB3P24', 'score': 9.68}, {'connected_gene': 'UNC13B', 'score': 9.55}, {'connected_gene': 'GBA2', 'score': 9.54}, {'connected_gene': 'OR13J1', 'score': 3.11}, {'connected_gene': 'CREB3', 'score': 2.1}, {'connected_gene': 'TPM2', 'score': 1.84}, {'connected_gene': 'CCDC107', 'score': 1.55}]
chr9 GH09I035528 35528787 35530693 0.31 [{'connected_gene': 'RUSC2', 'score': 11.98}, {'connected_gene': 'PIR61372', 'score': 0.37}, {'connected_gene': 'RPL36AP33', 'score': 0.34}]
chr9 GH09I035533 35533400 35533800 0.71 [{'connected_gene': 'RUSC2', 'score': 11.97}, {'connected_gene': 'PIR61372', 'score': 0.39}, {'connected_gene': 'RPL36AP33', 'score': 0.31}]
chr9 GH09I035558 35558330 35559638 0.2 [{'connected_gene': 'CD72', 'score': 6.39}, {'connected_gene': 'RUSC2', 'score': 4.26}, {'connected_gene': 'FAM166B', 'score': 0.77}, {'connected_gene': 'PIR61372', 'score': 0.39}]
chr9 GH09I035496 35496958 35501673 0.49 [{'connected_gene': 'CD72', 'score': 6.58}, {'connected_gene': 'CCDC107', 'score': 3.98}, {'connected_gene': 'LOC105376026', 'score': 0.44}, {'connected_gene': 'GC09P035509', 'score': 0.44}, {'connected_gene': 'RUSC2', 'score': 0.44}]
chr9 GH09I035509 35509301 35512722 1.28 [{'connected_gene': 'ARHGEF39', 'score': 5.21}, {'connected_gene': 'HRCT1', 'score': 4.27}, {'connected_gene': 'CCDC107', 'score': 3.98}, {'connected_gene': 'RPL36AP33', 'score': 0.77}, {'connected_gene': 'RUSC2', 'score': 0.34}, {'connected_gene': 'PIR61372', 'score': 0.28}]
chr9 GH09I036283 36283954 36284931 0.64 [{'connected_gene': 'ZCCHC7', 'score': 40.2}, {'connected_gene': 'HMGB3P24', 'score': 19.37}, {'connected_gene': 'ARHGEF39', 'score': 12.58}, {'connected_gene': 'SPAG8', 'score': 12.4}, {'connected_gene': 'TMEM8B', 'score': 11.31}, {'connected_gene': 'RUSC2', 'score': 11.16}, {'connected_gene': 'ENSG00000231393', 'score': 10.39}, {'connected_gene': 'RNF38', 'score': 10.16}, {'connected_gene': 'RGP1', 'score': 10.1}, {'connected_gene': 'FAM221B', 'score': 5.85}, {'connected_gene': 'GNE', 'score': 5.47}, {'connected_gene': 'PIR32038', 'score': 0.37}, {'connected_gene': 'LOC102724322', 'score': 0.31}, {'connected_gene': 'CLTA', 'score': 0.16}]
chr9 GH09I035108 35108527 35117534 2.61 [{'connected_gene': 'FAM214B', 'score': 573.1}, {'connected_gene': 'PIGO', 'score': 26.02}, {'connected_gene': 'SPAG8', 'score': 12.38}, {'connected_gene': 'TMEM8B', 'score': 11.3}, {'connected_gene': 'RUSC2', 'score': 11.18}, {'connected_gene': 'ARHGEF39', 'score': 10.52}, {'connected_gene': 'VCP', 'score': 10.01}, {'connected_gene': 'FANCG', 'score': 7.87}, {'connected_gene': 'UNC13B', 'score': 5.84}, {'connected_gene': 'DNAJB5', 'score': 1.98}, {'connected_gene': 'STOML2', 'score': 0.44}]
chr9 GH09I035486 35486446 35487741 0.2 [{'connected_gene': 'FAM214B', 'score': 10.7}, {'connected_gene': 'FAM166B', 'score': 10.34}, {'connected_gene': 'UNC13B', 'score': 9.55}, {'connected_gene': 'GBA2', 'score': 9.54}, {'connected_gene': 'PIGO', 'score': 4.36}, {'connected_gene': 'FANCG', 'score': 4.06}, {'connected_gene': 'RUSC2', 'score': 0.77}, {'connected_gene': 'PIR41937', 'score': 0.44}]
chr9 GH09I035515 35515128 35523122 1.64 [{'connected_gene': 'FAM166B', 'score': 17.3}, {'connected_gene': 'RUSC2', 'score': 7.45}, {'connected_gene': 'OR13J1', 'score': 4.8}, {'connected_gene': 'CCDC107', 'score': 4.04}, {'connected_gene': 'ARHGEF39', 'score': 4.01}, {'connected_gene': 'CREB3', 'score': 3.61}, {'connected_gene': 'VCP', 'score': 2.64}, {'connected_gene': 'STOML2', 'score': 2.01}, {'connected_gene': 'RPL36AP33', 'score': 0.39}, {'connected_gene': 'PIR61372', 'score': 0.31}]
chr9 GH09I035556 35556195 35558090 0.4 [{'connected_gene': 'FAM166B', 'score': 5.37}, {'connected_gene': 'OR13J1', 'score': 4.64}, {'connected_gene': 'GBA2', 'score': 4.37}, {'connected_gene': 'RUSC2', 'score': 4.28}, {'connected_gene': 'PIR61372', 'score': 0.44}]
chr9 GH09I035560 35560060 35567209 1.54 [{'connected_gene': 'FAM166B', 'score': 557.24}, {'connected_gene': 'CCDC107', 'score': 10.23}, {'connected_gene': 'RN7SL22P', 'score': 10.21}, {'connected_gene': 'ARHGEF39', 'score': 10.2}, {'connected_gene': 'CD72', 'score': 6.91}, {'connected_gene': 'RGP1', 'score': 4.29}, {'connected_gene': 'PIR61372', 'score': 0.37}, {'connected_gene': 'RUSC2', 'score': 0.19}]
chr9 GH09I035542 35542216 35543579 0.2 [{'connected_gene': 'OR13J1', 'score': 5.32}, {'connected_gene': 'PIR61372', 'score': 0.77}, {'connected_gene': 'RPL36AP33', 'score': 0.28}, {'connected_gene': 'RUSC2', 'score': 0.23}]
chr9 GH09I035494 35494058 35494539 0.2 [{'connected_gene': 'CCDC107', 'score': 3.97}, {'connected_gene': 'LOC105376026', 'score': 0.77}, {'connected_gene': 'RUSC2', 'score': 0.77}, {'connected_gene': 'GC09P035509', 'score': 0.39}]
chr9 GH09I035525 35525296 35527599 1.16 [{'connected_gene': 'DCTN3', 'score': 9.76}, {'connected_gene': 'CCDC107', 'score': 5.03}, {'connected_gene': 'GBA2', 'score': 4.86}, {'connected_gene': 'RPL36AP33', 'score': 0.37}, {'connected_gene': 'PIR61372', 'score': 0.34}, {'connected_gene': 'RUSC2', 'score': 0.28}]
chr9 GH09I035523 35523601 35523800 0.4 [{'connected_gene': 'RPL36AP33', 'score': 0.37}, {'connected_gene': 'PIR61372', 'score': 0.34}, {'connected_gene': 'RUSC2', 'score': 0.29}]
chr9 GH09I035546 35546365 35549389 0.38 [{'connected_gene': 'PIR61372', 'score': 550.77}, {'connected_gene': 'RUSC2', 'score': 11.64}, {'connected_gene': 'ENSG00000234181', 'score': 9.61}, {'connected_gene': 'PIGO', 'score': 9.61}, {'connected_gene': 'STOML2', 'score': 9.6}, {'connected_gene': 'LOC730098', 'score': 4.19}, {'connected_gene': 'FAM166B', 'score': 0.37}]
chr9 GH09I035481 35481600 35481800 0.79 [{'connected_gene': 'PIR41937', 'score': 550.77}, {'connected_gene': 'FAM214B', 'score': 10.7}, {'connected_gene': 'FAM166B', 'score': 10.33}, {'connected_gene': 'UNC13B', 'score': 9.56}, {'connected_gene': 'GBA2', 'score': 9.53}, {'connected_gene': 'RUSC2', 'score': 0.44}, {'connected_gene': 'ATP8B5P', 'score': 0.19}]
chr9 GH09I035602 35602843 35606431 2.39 [{'connected_gene': 'GC09M035603', 'score': 550.77}, {'connected_gene': 'TESK1', 'score': 550.77}, {'connected_gene': 'CD72', 'score': 23.9}, {'connected_gene': 'ENSG00000231393', 'score': 12.44}, {'connected_gene': 'LOC101926948', 'score': 12.43}, {'connected_gene': 'CCDC107', 'score': 11.24}, {'connected_gene': 'RN7SL22P', 'score': 11.21}, {'connected_gene': 'ARHGEF39', 'score': 11.2}, {'connected_gene': 'VCP', 'score': 10.81}, {'connected_gene': 'RUSC2', 'score': 9.26}, {'connected_gene': 'TMEM8B', 'score': 8.91}, {'connected_gene': 'SPAG8', 'score': 8.21}, {'connected_gene': 'FAM221B', 'score': 6.85}, {'connected_gene': 'ENSG00000227388', 'score': 4.68}, {'connected_gene': 'GBA2', 'score': 2.06}, {'connected_gene': 'RECK', 'score': 1.34}, {'connected_gene': 'RPS29P17', 'score': 0.39}]
chr9 GH09I035508 35507365 35507875 0.2 [{'connected_gene': 'GC09P035509', 'score': 550.77}, {'connected_gene': 'RPL36AP33', 'score': 550.77}, {'connected_gene': 'RUSC2', 'score': 0.37}, {'connected_gene': 'PIR61372', 'score': 0.28}]
chr9 GH09I035527 35527801 35528200 0.31 [{'connected_gene': 'PIR61372', 'score': 0.37}, {'connected_gene': 'RPL36AP33', 'score': 0.34}, {'connected_gene': 'RUSC2', 'score': 0.28}]
chr9 GH09I035507 35507918 35508570 0.2 [{'connected_gene': 'GC09P035509', 'score': 550.77}, {'connected_gene': 'RPL36AP33', 'score': 550.77}, {'connected_gene': 'RUSC2', 'score': 0.37}, {'connected_gene': 'PIR61372', 'score': 0.28}]

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