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
ENST00000505587 [[86687310, 86688721], [86690221, 86690301], [86690860, 86690921], [86695210, 86695322], [86697518, 86697589], [86703792, 86703997]] None
ENST00000510921 [[86688523, 86688721], [86690860, 86690921], [86695210, 86695322], [86697518, 86697589], [86700660, 86700767]] None
ENST00000508855 [[86689233, 86690921], [86695210, 86695322], [86697518, 86697589], [86700660, 86700824], [86703792, 86704003], [86705106, 86705180], [86707040, 86707111]] [[86690803, 86690921], [86695210, 86695322], [86697518, 86697589], [86700660, 86700824], [86703792, 86704003], [86705106, 86705180], [86707040, 86707058]]
ENST00000256897 [[86690081, 86690301], [86690860, 86690921], [86695210, 86695322], [86697518, 86697589], [86700660, 86700824], [86703792, 86704003], [86705106, 86705180], [86707040, 86707163], [86708494, 86708836]] [[86690262, 86690301], [86690860, 86690921], [86695210, 86695322], [86697518, 86697589], [86700660, 86700824], [86703792, 86704003], [86705106, 86705180], [86707040, 86707163], [86708494, 86708611]]
ENST00000504878 [[86690090, 86690301], [86690860, 86690921], [86695210, 86695322], [86697518, 86697589], [86700660, 86700824], [86703792, 86704003], [86705106, 86705180], [86707040, 86707163], [86708251, 86708721]] [[86690262, 86690301], [86690860, 86690921], [86695210, 86695322], [86697518, 86697589], [86700660, 86700824], [86703792, 86704003], [86705106, 86705180], [86707040, 86707058]]
ENST00000511207 [[86690096, 86690301], [86690860, 86690921], [86695210, 86695322], [86697518, 86697591]] None
ENST00000504115 [[86690142, 86690301], [86690860, 86690921], [86695210, 86695322], [86697518, 86697589], [86700660, 86700824], [86703792, 86704003]] None
ENST00000513499 [[86700658, 86700824], [86703792, 86703823], [86705106, 86705180], [86707040, 86707163], [86708494, 86708706]] None
ENST00000510020 [[86703854, 86704003], [86704904, 86704946], [86705106, 86705180], [86707040, 86707163], [86708494, 86708688]] None
ENST00000505230 [[86704889, 86705180], [86707040, 86707163], [86708494, 86708667]] None
NM_001199189 [[86690078, 86690301], [86690860, 86690921], [86695210, 86695322], [86697518, 86697589], [86700660, 86700824], [86703792, 86704003], [86705106, 86705180], [86707040, 86707163], [86708251, 86708721]] [[86690262, 86690301], [86690860, 86690921], [86695210, 86695322], [86697518, 86697589], [86700660, 86700824], [86703792, 86704003], [86705106, 86705180], [86707040, 86707121]]
NM_001239 [[86690078, 86690301], [86690860, 86690921], [86695210, 86695322], [86697518, 86697589], [86700660, 86700824], [86703792, 86704003], [86705106, 86705180], [86707040, 86707163], [86708494, 86708850]] [[86690262, 86690301], [86690860, 86690921], [86695210, 86695322], [86697518, 86697589], [86700660, 86700824], [86703792, 86704003], [86705106, 86705180], [86707040, 86707163], [86708494, 86708611]]
Promoter
Chrom Start End Description
chr5 86708452 86708476 CAGE_peak_8_at_CCNH_5end
chr5 86708579 86708607 CAGE_peak_4_at_CCNH_5end
chr5 86708610 86708627 CAGE_peak_3_at_CCNH_5end
chr5 86708636 86708665 CAGE_peak_2_at_CCNH_5end
chr5 86708670 86708766 CAGE_peak_1_at_CCNH_5end
chr5 86708770 86708781 CAGE_peak_7_at_CCNH_5end
chr5 86708789 86708805 CAGE_peak_5_at_CCNH_5end
chr5 86708833 86708844 CAGE_peak_6_at_CCNH_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I087242 87242119 87244200 0.66 [{'connected_gene': 'CCNH', 'score': 4.46}, {'connected_gene': 'LINC01949', 'score': 0.77}, {'connected_gene': 'RASA1', 'score': 0.34}, {'connected_gene': 'LOC101929380', 'score': 0.06}]
chr5 GH05I087383 87383432 87386401 0.49 [{'connected_gene': 'CCNH', 'score': 11.11}, {'connected_gene': 'ENSG00000272367', 'score': 0.44}, {'connected_gene': 'GC05P087376', 'score': 0.44}, {'connected_gene': 'LOC105379066', 'score': 0.31}, {'connected_gene': 'RASA1', 'score': 0.13}]
chr5 GH05I087386 87386753 87389153 0.57 [{'connected_gene': 'CCNH', 'score': 11.46}, {'connected_gene': 'ENSG00000272367', 'score': 0.39}, {'connected_gene': 'GC05P087376', 'score': 0.39}, {'connected_gene': 'LOC105379066', 'score': 0.31}, {'connected_gene': 'RASA1', 'score': 0.13}]
chr5 GH05I087379 87379562 87382031 0.2 [{'connected_gene': 'CCNH', 'score': 10.62}, {'connected_gene': 'ENSG00000272367', 'score': 0.77}, {'connected_gene': 'GC05P087376', 'score': 0.77}, {'connected_gene': 'LOC105379066', 'score': 0.29}, {'connected_gene': 'RASA1', 'score': 0.14}]
chr5 GH05I086979 86979401 86980800 1 [{'connected_gene': 'CCNH', 'score': 2.27}, {'connected_gene': 'LOC101929380', 'score': 0.39}, {'connected_gene': 'GC05P087050', 'score': 0.19}]
chr5 GH05I086977 86977289 86977535 0.34 [{'connected_gene': 'CCNH', 'score': 2.29}, {'connected_gene': 'LOC101929380', 'score': 0.39}, {'connected_gene': 'GC05P087050', 'score': 0.19}]
chr5 GH05I087323 87323331 87323681 0.33 [{'connected_gene': 'LOC644285', 'score': 550.77}, {'connected_gene': 'LINC01949', 'score': 10.53}, {'connected_gene': 'CCNH', 'score': 9.76}, {'connected_gene': 'GC05M087300', 'score': 0.34}, {'connected_gene': 'RNU6-606P', 'score': 0.34}, {'connected_gene': 'RASA1', 'score': 0.22}]
chr5 GH05I087405 87405615 87406662 0.31 [{'connected_gene': 'LOC105379066', 'score': 0.44}, {'connected_gene': 'CCNH', 'score': 0.44}, {'connected_gene': 'ENSG00000272367', 'score': 0.31}]
chr5 GH05I087407 87407079 87409686 0.31 [{'connected_gene': 'LOC105379066', 'score': 0.77}, {'connected_gene': 'CCNH', 'score': 0.77}, {'connected_gene': 'ENSG00000272367', 'score': 0.29}]
chr5 GH05I087400 87400464 87400613 0.76 [{'connected_gene': 'LOC105379066', 'score': 0.39}, {'connected_gene': 'CCNH', 'score': 0.39}, {'connected_gene': 'ENSG00000272367', 'score': 0.34}]
chr5 GH05I087410 87410468 87413869 2.24 [{'connected_gene': 'LOC105379066', 'score': 550.77}, {'connected_gene': 'CCNH', 'score': 550.77}, {'connected_gene': 'ENSG00000272367', 'score': 0.29}]
chr5 GH05I087377 87377369 87377657 0.34 [{'connected_gene': 'ENSG00000272367', 'score': 550.77}, {'connected_gene': 'GC05P087376', 'score': 550.77}, {'connected_gene': 'CCNH', 'score': 2.57}, {'connected_gene': 'LOC105379066', 'score': 0.28}, {'connected_gene': 'RASA1', 'score': 0.14}]
chr5 GH05I087116 87116470 87123474 1.59 [{'connected_gene': 'GC05M087119', 'score': 550.77}, {'connected_gene': 'CCNH', 'score': 5.44}, {'connected_gene': 'GC05P087088', 'score': 0.29}, {'connected_gene': 'PIR58793', 'score': 0.13}, {'connected_gene': 'LOC101929380', 'score': 0.1}]
chr5 GH05I087391 87391868 87395795 0.99 [{'connected_gene': 'ENSG00000272367', 'score': 0.37}, {'connected_gene': 'LOC105379066', 'score': 0.37}, {'connected_gene': 'CCNH', 'score': 0.37}, {'connected_gene': 'RASA1', 'score': 0.13}]

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