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
ENST00000465268 [[228294379, 228294619], [228295368, 228295976]] None
ENST00000459783 [[228294379, 228294619], [228295368, 228295570], [228295677, 228295838], [228295935, 228296026]] None
ENST00000366732 [[228294379, 228294619], [228295368, 228295561], [228295935, 228296019], [228296137, 228296343]] [[228294460, 228294619], [228295368, 228295561], [228295935, 228295961]]
ENST00000366733 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296019], [228296137, 228296445]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
ENST00000366734 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296022], [228296137, 228296598]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
ENST00000366735 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296705]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
ENST00000366736 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296019], [228296137, 228296209], [228296655, 228296717]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
ENST00000366738 [[228294379, 228294619], [228295368, 228295570], [228295677, 228295785], [228295935, 228296019], [228296655, 228296726]] [[228294460, 228294619], [228295368, 228295570], [228295677, 228295785], [228295935, 228295961]]
ENST00000366741 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296019], [228296655, 228296732]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
ENST00000366740 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296022], [228296137, 228296175], [228296655, 228296732]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
ENST00000366739 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296019], [228296137, 228296175], [228296655, 228296732]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
ENST00000366742 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296022], [228296655, 228296756]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
ENST00000366744 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296019], [228296141, 228296209], [228296849, 228296981]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
ENST00000348259 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296019], [228296849, 228296984]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
ENST00000366746 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296019], [228296961, 228297000]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
ENST00000465397 [[228294379, 228294619], [228295368, 228295570], [228295677, 228295838], [228295935, 228296019], [228296137, 228296722], [228296849, 228297000]] None
ENST00000295008 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296019], [228296655, 228296722], [228296961, 228297000]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
ENST00000336520 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296019], [228296655, 228296722], [228296849, 228297000]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
ENST00000366747 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296019], [228296137, 228296175], [228296961, 228297000]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
ENST00000336300 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296019], [228296137, 228296175], [228296849, 228297007]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
ENST00000430433 [[228294380, 228294619], [228295368, 228295570], [228295677, 228295785], [228295935, 228296019], [228296655, 228296722], [228296849, 228297013]] [[228294460, 228294619], [228295368, 228295570], [228295677, 228295785], [228295935, 228295961]]
ENST00000391867 [[228294380, 228294619], [228295368, 228295570], [228295935, 228296022], [228296137, 228296175], [228296655, 228296722], [228296961, 228297013]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
ENST00000366731 [[228294388, 228294619], [228295368, 228295570], [228295677, 228295785], [228295935, 228296019], [228296137, 228296722], [228296849, 228297000]] [[228294460, 228294619], [228295368, 228295570], [228295677, 228295785], [228295935, 228295961]]
ENST00000411464 [[228294388, 228294619], [228295368, 228295570], [228295935, 228296019], [228296137, 228296722], [228296849, 228297000]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
ENST00000457264 [[228295367, 228295570], [228295935, 228296019], [228296137, 228296175], [228296655, 228296722], [228296849, 228297001]] [[228295367, 228295570], [228295935, 228295961]]
ENST00000463898 [[228295467, 228295570], [228295935, 228296019], [228296137, 228296717]] None
ENST00000497758 [[228295485, 228295570], [228295677, 228295838], [228295935, 228296022], [228296137, 228296274]] None
ENST00000464148 [[228295524, 228295570], [228295935, 228296022], [228296137, 228296598], [228296961, 228297003]] None
ENST00000475832 [[228295759, 228296022], [228296137, 228296732]] None
ENST00000473066 [[228295814, 228296019], [228296137, 228296722], [228296961, 228296991]] None
ENST00000492170 [[228295926, 228296019], [228296849, 228296997]] None
ENST00000476267 [[228295932, 228296019], [228296655, 228296737]] None
ENST00000495434 [[228295935, 228296019], [228296137, 228296175], [228296655, 228296722], [228296961, 228296996]] None
ENST00000483159 [[228295947, 228296022], [228296137, 228296722], [228296849, 228296979]] None
ENST00000495899 [[228295962, 228296722], [228296961, 228296991]] None
ENST00000489430 [[228295990, 228296019], [228296137, 228296955]] None
NM_181462 [[228294379, 228294619], [228295368, 228295570], [228295677, 228295785], [228295935, 228296019], [228296655, 228296722], [228296849, 228297013]] [[228294460, 228294619], [228295368, 228295570], [228295677, 228295785], [228295935, 228295961]]
NM_181463 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296019], [228296655, 228296722], [228296849, 228297013]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
NM_181456 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296019], [228296137, 228296175], [228296849, 228297013]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
NM_181441 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296019], [228296849, 228297013]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
NM_181455 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296022], [228296137, 228296175], [228296655, 228296722], [228296961, 228297013]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
NM_181454 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296019], [228296137, 228296175], [228296655, 228296722], [228296961, 228297013]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
NM_181464 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296019], [228296655, 228296722], [228296961, 228297013]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
NM_001321284 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296019], [228296137, 228296175], [228296961, 228297013]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
NM_181465 [[228294379, 228294619], [228295368, 228295570], [228295935, 228296019], [228296961, 228297013]] [[228294460, 228294619], [228295368, 228295570], [228295935, 228295961]]
Promoter
Chrom Start End Description
chr1 228296944 228296955 CAGE_peak_2_at_MRPL55_5end
chr1 228296956 228297012 CAGE_peak_1_at_MRPL55_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I228455 228455800 228460001 2.32 [{'connected_gene': 'HIST3H2A', 'score': 550.77}, {'connected_gene': 'HIST3H2BB', 'score': 550.77}, {'connected_gene': 'GC01M228457', 'score': 550.77}, {'connected_gene': 'CICP26', 'score': 103.44}, {'connected_gene': 'C1orf35', 'score': 50.68}, {'connected_gene': 'ENSG00000269890', 'score': 39.66}, {'connected_gene': 'ZNF678', 'score': 27.06}, {'connected_gene': 'HIST3H3', 'score': 21.27}, {'connected_gene': 'LOC105373159', 'score': 11.88}, {'connected_gene': 'JMJD4', 'score': 10.55}, {'connected_gene': 'BTNL10', 'score': 10.46}, {'connected_gene': 'MRPL55', 'score': 10.42}, {'connected_gene': 'ENSG00000269934', 'score': 10.4}, {'connected_gene': 'IBA57-AS1', 'score': 10.19}, {'connected_gene': 'OBSCN', 'score': 10.11}, {'connected_gene': 'ARF1', 'score': 9.76}]
chr1 GH01I227314 227314037 227319886 2.3 [{'connected_gene': 'CDC42BPA', 'score': 581.57}, {'connected_gene': 'CICP26', 'score': 54.1}, {'connected_gene': 'ZNF678', 'score': 32.18}, {'connected_gene': 'ENSG00000269890', 'score': 30.46}, {'connected_gene': 'MRPL55', 'score': 10.4}, {'connected_gene': 'GC01M227291', 'score': 0.37}]
chr1 GH01I227942 227942741 227948692 2.17 [{'connected_gene': 'WNT9A', 'score': 550.77}, {'connected_gene': 'OBSCN-AS1', 'score': 12.89}, {'connected_gene': 'WNT3A', 'score': 10.94}, {'connected_gene': 'OBSCN', 'score': 9.02}, {'connected_gene': 'IBA57', 'score': 7.69}, {'connected_gene': 'ENSG00000269934', 'score': 6.71}, {'connected_gene': 'MRPL55', 'score': 4.16}, {'connected_gene': 'MIR5008', 'score': 0.77}]
chr1 GH01I227733 227733702 227736482 2.33 [{'connected_gene': 'JMJD4', 'score': 570.46}, {'connected_gene': 'CICP26', 'score': 152.02}, {'connected_gene': 'ZNF678', 'score': 114.76}, {'connected_gene': 'C1orf35', 'score': 106.13}, {'connected_gene': 'CDC42BPA', 'score': 72.03}, {'connected_gene': 'ENSG00000269890', 'score': 51.47}, {'connected_gene': 'HIST3H3', 'score': 20.3}, {'connected_gene': 'SNAP47', 'score': 11.95}, {'connected_gene': 'MRPL55', 'score': 10.42}, {'connected_gene': 'IBA57-AS1', 'score': 10.18}, {'connected_gene': 'PIR45879', 'score': 0.44}]
chr1 GH01I228781 228781194 228784931 1.7 [{'connected_gene': 'NUP133', 'score': 144.13}, {'connected_gene': 'CICP26', 'score': 125.89}, {'connected_gene': 'C1orf35', 'score': 96.4}, {'connected_gene': 'ENSG00000269890', 'score': 51.26}, {'connected_gene': 'HMGN2P19', 'score': 32.32}, {'connected_gene': 'ABCB10', 'score': 28.22}, {'connected_gene': 'HIST3H3', 'score': 27.97}, {'connected_gene': 'TAF5L', 'score': 27.68}, {'connected_gene': 'URB2', 'score': 16.08}, {'connected_gene': 'LOC105373159', 'score': 11.9}, {'connected_gene': 'MRPL55', 'score': 10.4}, {'connected_gene': 'TMEM78', 'score': 9.91}, {'connected_gene': 'RHOU', 'score': 6.46}, {'connected_gene': 'WNT3A', 'score': 5.45}, {'connected_gene': 'LOC100421842', 'score': 0.44}, {'connected_gene': 'GC01M228858', 'score': 0.37}]
chr1 GH01I228137 228137689 228146440 2.3 [{'connected_gene': 'GUK1', 'score': 550.77}, {'connected_gene': 'OBSCN', 'score': 49.82}, {'connected_gene': 'CICP26', 'score': 31.83}, {'connected_gene': 'CDC42BPA', 'score': 23.49}, {'connected_gene': 'ENSG00000269890', 'score': 22.8}, {'connected_gene': 'OBSCN-AS1', 'score': 16.65}, {'connected_gene': 'FAM96AP2', 'score': 12.63}, {'connected_gene': 'MRPL55', 'score': 12.61}, {'connected_gene': 'JMJD4', 'score': 10.57}, {'connected_gene': 'HIST3H3', 'score': 10.07}, {'connected_gene': 'RPL23AP15', 'score': 9.97}, {'connected_gene': 'HIST3H2A', 'score': 9.97}, {'connected_gene': 'HIST3H2BB', 'score': 9.97}, {'connected_gene': 'ENSG00000269934', 'score': 9.73}, {'connected_gene': 'ZNF678', 'score': 9.66}, {'connected_gene': 'GC01P228138', 'score': 0.77}, {'connected_gene': 'GJC2', 'score': 0.44}]
chr1 GH01I228485 228485900 228489193 2.32 [{'connected_gene': 'RNF187', 'score': 556.93}, {'connected_gene': 'ENSG00000279306', 'score': 550.77}, {'connected_gene': 'CICP26', 'score': 38.9}, {'connected_gene': 'ZNF678', 'score': 35.2}, {'connected_gene': 'C1orf35', 'score': 20.58}, {'connected_gene': 'ENSG00000269890', 'score': 11.13}, {'connected_gene': 'MRPL55', 'score': 10.42}, {'connected_gene': 'GJC2', 'score': 5.59}, {'connected_gene': 'LOC105373124', 'score': 0.34}]
chr1 GH01I228108 228108065 228111903 2.1 [{'connected_gene': 'MRPL55', 'score': 561.14}, {'connected_gene': 'GC01P228109', 'score': 550.77}, {'connected_gene': 'C1orf35', 'score': 23.44}, {'connected_gene': 'OBSCN', 'score': 22.68}, {'connected_gene': 'CICP26', 'score': 13.62}, {'connected_gene': 'CDC42BPA', 'score': 10.99}, {'connected_gene': 'ZNF678', 'score': 10.5}, {'connected_gene': 'OBSCN-AS1', 'score': 6.47}, {'connected_gene': 'ENSG00000269934', 'score': 4.35}]
chr1 GH01I228998 228998692 229000995 0.46 [{'connected_gene': 'MRPL55', 'score': 4.6}, {'connected_gene': 'GC01M228979', 'score': 0.77}, {'connected_gene': 'GC01P229014', 'score': 0.39}, {'connected_gene': 'GC01M228906', 'score': 0.05}]
chr1 GH01I228096 228096080 228096135 0.49 [{'connected_gene': 'MIR3620', 'score': 550.77}, {'connected_gene': 'MRPL55', 'score': 10.77}, {'connected_gene': 'ARF1', 'score': 0.39}]
chr1 GH01I228403 228403895 228408562 2.03 [{'connected_gene': 'ENSG00000231563', 'score': 550.77}, {'connected_gene': 'TRIM11', 'score': 550.77}, {'connected_gene': 'GC01M228396', 'score': 550.77}, {'connected_gene': 'CICP26', 'score': 18.08}, {'connected_gene': 'ZNF678', 'score': 12.48}, {'connected_gene': 'HIST3H3', 'score': 10.87}, {'connected_gene': 'C1orf35', 'score': 10.54}, {'connected_gene': 'MRPL55', 'score': 10.43}, {'connected_gene': 'ENSG00000269890', 'score': 10.42}, {'connected_gene': 'WNT3A', 'score': 4.47}, {'connected_gene': 'PIR32292', 'score': 0.77}, {'connected_gene': 'GC01M228403', 'score': 0.77}, {'connected_gene': 'TRIM17', 'score': 0.39}]
chr1 GH01I228136 228136860 228137573 0.58 [{'connected_gene': 'GC01P228138', 'score': 550.77}, {'connected_gene': 'RPS28P3', 'score': 550.77}, {'connected_gene': 'FAM96AP2', 'score': 12.66}, {'connected_gene': 'MRPL55', 'score': 12.63}, {'connected_gene': 'OBSCN', 'score': 11.54}, {'connected_gene': 'OBSCN-AS1', 'score': 11.53}, {'connected_gene': 'RPL23AP15', 'score': 9.97}, {'connected_gene': 'HIST3H2A', 'score': 9.96}, {'connected_gene': 'HIST3H2BB', 'score': 9.96}]
chr1 GH01I228664 228664494 228664801 1.13 [{'connected_gene': 'GC01P228662', 'score': 550.77}, {'connected_gene': 'LOC105373159', 'score': 17.72}, {'connected_gene': 'ENSG00000233920', 'score': 12.14}, {'connected_gene': 'TMEM78', 'score': 11.89}, {'connected_gene': 'MRPL55', 'score': 10.4}, {'connected_gene': 'FTH1P2', 'score': 0.34}, {'connected_gene': 'RHOU', 'score': 0.34}]

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