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
ENST00000367001 [[211744909, 211749631], [211751332, 211752084]] [[211748729, 211749631], [211751332, 211751954]]
NM_021194 [[211748380, 211749631], [211751332, 211752099]] [[211748729, 211749631], [211751332, 211751954]]
Promoter
Chrom Start End Description
chr1 211752037 211752045 CAGE_peak_11_at_SLC30A1_5end
chr1 211752049 211752060 CAGE_peak_9_at_SLC30A1_5end
chr1 211752073 211752084 CAGE_peak_10_at_SLC30A1_5end
chr1 211752380 211752391 CAGE_peak_6_at_SLC30A1_5end
chr1 211752406 211752432 CAGE_peak_2_at_SLC30A1_5end
chr1 211752444 211752453 CAGE_peak_5_at_SLC30A1_5end
chr1 211752460 211752482 CAGE_peak_4_at_SLC30A1_5end
chr1 211752484 211752512 CAGE_peak_1_at_SLC30A1_5end
chr1 211752522 211752547 CAGE_peak_3_at_SLC30A1_5end
chr1 211752557 211752560 CAGE_peak_7_at_SLC30A1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I211674 211674469 211676736 2.11 [{'connected_gene': 'LOC91548', 'score': 556.95}, {'connected_gene': 'NEK2', 'score': 550.77}, {'connected_gene': 'RCOR3', 'score': 20.37}, {'connected_gene': 'SNX25P1', 'score': 10.53}, {'connected_gene': 'RPL21P28', 'score': 10.52}, {'connected_gene': 'DTL', 'score': 10.35}, {'connected_gene': 'INTS7', 'score': 10.35}, {'connected_gene': 'SLC30A1', 'score': 10.11}, {'connected_gene': 'FDPSP8', 'score': 0.39}]
chr1 GH01I211309 211309139 211314398 0.7 [{'connected_gene': 'LINC00467', 'score': 16.38}, {'connected_gene': 'SLC30A1', 'score': 10.04}, {'connected_gene': 'GC01M211316', 'score': 0.44}, {'connected_gene': 'GC01P211304', 'score': 0.44}, {'connected_gene': 'RCOR3', 'score': 0.23}]
chr1 GH01I211513 211513754 211518166 1.71 [{'connected_gene': 'SLC30A1', 'score': 17.38}, {'connected_gene': 'TRAF5', 'score': 12.18}, {'connected_gene': 'RCOR3', 'score': 11.17}, {'connected_gene': 'LINC00467', 'score': 6.43}, {'connected_gene': 'RD3', 'score': 0.34}, {'connected_gene': 'GC01M211578', 'score': 0.21}]
chr1 GH01I211618 211618849 211620061 0.81 [{'connected_gene': 'SLC30A1', 'score': 13.25}, {'connected_gene': 'SNORA16B', 'score': 9.95}, {'connected_gene': 'LOC105372903', 'score': 0.44}, {'connected_gene': 'LINC01693', 'score': 0.34}]
chr1 GH01I211630 211630048 211631761 1.43 [{'connected_gene': 'SLC30A1', 'score': 12.9}, {'connected_gene': 'RCOR3', 'score': 10.0}, {'connected_gene': 'LINC01740', 'score': 4.06}, {'connected_gene': 'LINC01693', 'score': 0.44}, {'connected_gene': 'LOC105372903', 'score': 0.34}]
chr1 GH01I211632 211632157 211633803 1.17 [{'connected_gene': 'SLC30A1', 'score': 13.08}, {'connected_gene': 'RCOR3', 'score': 11.52}, {'connected_gene': 'RPL21P28', 'score': 10.52}, {'connected_gene': 'LINC01693', 'score': 0.44}, {'connected_gene': 'LOC105372903', 'score': 0.34}]
chr1 GH01I211610 211610802 211615095 1.42 [{'connected_gene': 'SLC30A1', 'score': 13.07}, {'connected_gene': 'RCOR3', 'score': 12.18}, {'connected_gene': 'RPL21P28', 'score': 10.09}, {'connected_gene': 'LOC105372903', 'score': 0.77}, {'connected_gene': 'LINC01693', 'score': 0.31}]
chr1 GH01I211547 211547617 211552886 1.36 [{'connected_gene': 'SLC30A1', 'score': 12.46}, {'connected_gene': 'PPP2R5A', 'score': 4.27}, {'connected_gene': 'GC01M211578', 'score': 0.31}, {'connected_gene': 'RD3', 'score': 0.22}]
chr1 GH01I211667 211667299 211667408 0.86 [{'connected_gene': 'SLC30A1', 'score': 11.05}, {'connected_gene': 'ENSG00000212187', 'score': 10.27}, {'connected_gene': 'NEK2', 'score': 0.44}, {'connected_gene': 'FDPSP8', 'score': 0.44}]
chr1 GH01I211625 211625001 211625201 0.68 [{'connected_gene': 'SLC30A1', 'score': 13.32}, {'connected_gene': 'LINC01693', 'score': 0.39}, {'connected_gene': 'LOC105372903', 'score': 0.37}]
chr1 GH01I211616 211616401 211617000 0.88 [{'connected_gene': 'SLC30A1', 'score': 13.27}, {'connected_gene': 'LOC105372903', 'score': 0.44}, {'connected_gene': 'LINC01693', 'score': 0.34}]
chr1 GH01I211620 211620964 211621710 0.2 [{'connected_gene': 'SLC30A1', 'score': 13.25}, {'connected_gene': 'LOC105372903', 'score': 0.39}, {'connected_gene': 'LINC01693', 'score': 0.37}]
chr1 GH01I211646 211646276 211650990 1.54 [{'connected_gene': 'SNORA16B', 'score': 15.94}, {'connected_gene': 'SLC30A1', 'score': 12.47}, {'connected_gene': 'RD3', 'score': 11.22}, {'connected_gene': 'ENSG00000223649', 'score': 11.22}, {'connected_gene': 'NEK2', 'score': 10.53}, {'connected_gene': 'LOC91548', 'score': 10.53}, {'connected_gene': 'LINC01693', 'score': 0.44}, {'connected_gene': 'ENSG00000228792', 'score': 0.44}, {'connected_gene': 'FDPSP8', 'score': 0.39}]
chr1 GH01I211652 211652179 211655669 1.33 [{'connected_gene': 'TMEM206', 'score': 13.79}, {'connected_gene': 'SLC30A1', 'score': 5.31}, {'connected_gene': 'FDPSP8', 'score': 0.44}, {'connected_gene': 'LINC01693', 'score': 0.39}, {'connected_gene': 'ENSG00000228792', 'score': 0.39}]
chr1 GH01I211627 211627984 211629092 0.31 [{'connected_gene': 'TMEM206', 'score': 13.78}, {'connected_gene': 'SLC30A1', 'score': 13.32}, {'connected_gene': 'LINC01693', 'score': 0.39}, {'connected_gene': 'LOC105372903', 'score': 0.37}]
chr1 GH01I211638 211638359 211640927 1.11 [{'connected_gene': 'LINC01693', 'score': 550.77}, {'connected_gene': 'SLC30A1', 'score': 12.23}, {'connected_gene': 'RD3', 'score': 11.45}, {'connected_gene': 'ENSG00000223649', 'score': 11.45}, {'connected_gene': 'NEK2', 'score': 10.49}, {'connected_gene': 'LOC91548', 'score': 10.49}, {'connected_gene': 'ENSG00000260805', 'score': 4.38}, {'connected_gene': 'ENSG00000228792', 'score': 0.77}, {'connected_gene': 'LOC105372903', 'score': 0.29}]
chr1 GH01I211609 211609227 211610071 1.3 [{'connected_gene': 'LOC105372903', 'score': 550.77}, {'connected_gene': 'SLC30A1', 'score': 13.07}, {'connected_gene': 'LINC01693', 'score': 0.29}]
chr1 GH01I211573 211573781 211582600 2.71 [{'connected_gene': 'GC01M211578', 'score': 550.77}, {'connected_gene': 'SLC30A1', 'score': 550.77}, {'connected_gene': 'LINC00467', 'score': 5.87}, {'connected_gene': 'TRAF5', 'score': 2.87}, {'connected_gene': 'RD3', 'score': 0.17}]
chr1 GH01I211641 211641335 211645606 1.34 [{'connected_gene': 'ENSG00000228792', 'score': 550.77}, {'connected_gene': 'SLC30A1', 'score': 16.98}, {'connected_gene': 'RD3', 'score': 11.22}, {'connected_gene': 'ENSG00000223649', 'score': 11.22}, {'connected_gene': 'NEK2', 'score': 10.51}, {'connected_gene': 'LOC91548', 'score': 10.51}, {'connected_gene': 'LINC01693', 'score': 0.77}, {'connected_gene': 'FDPSP8', 'score': 0.37}]
chr1 GH01I211583 211583201 211583888 0.8 [{'connected_gene': 'ENSG00000261314', 'score': 550.77}, {'connected_gene': 'SLC30A1', 'score': 0.77}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.