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
ENST00000367384 [[150070578, 150071092], [150092297, 150092402], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805], [150117550, 150117636], [150123335, 150123505], [150131751, 150132556]] [[150070863, 150071092], [150092297, 150092402], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805], [150117550, 150117636], [150123335, 150123505], [150131751, 150131764]]
ENST00000484601 [[150070579, 150071092], [150092297, 150092402], [150093183, 150093383], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805], [150117550, 150117569]] [[150070863, 150071092], [150092297, 150092402], [150093183, 150093224]]
ENST00000367378 [[150070579, 150071092], [150092297, 150092402], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805], [150117550, 150117636], [150123335, 150123666]] [[150070863, 150071092], [150092297, 150092402], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805], [150117550, 150117636], [150123335, 150123515]]
ENST00000464889 [[150070579, 150071092], [150092297, 150092402], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805], [150117550, 150117636], [150123335, 150123552], [150131751, 150132556]] [[150070863, 150071092], [150092297, 150092402], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805], [150117550, 150117636], [150123335, 150123515]]
ENST00000367380 [[150070830, 150071092], [150092297, 150092402], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805], [150117550, 150117636], [150123335, 150123552], [150131751, 150132556]] [[150071037, 150071092], [150092297, 150092402], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805], [150117550, 150117636], [150123335, 150123515]]
ENST00000460828 [[150070862, 150071092], [150092297, 150092402], [150093149, 150093383], [150094273, 150094286]] [[150070863, 150071092], [150092297, 150092402], [150093149, 150093178]]
ENST00000494411 [[150070862, 150071092], [150092297, 150092402], [150093690, 150093820], [150094273, 150094305], [150111089, 150111192]] [[150070863, 150071092], [150092297, 150092402], [150093690, 150093749]]
ENST00000544496 [[150070909, 150071092], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805], [150117550, 150117636], [150123335, 150123552], [150131751, 150131937]] [[150071037, 150071092], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805], [150117550, 150117636], [150123335, 150123515]]
ENST00000486585 [[150070951, 150071092], [150086826, 150086889], [150092297, 150092402], [150093149, 150093383], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805]] [[150070951, 150071092]]
ENST00000495487 [[150071179, 150071401], [150092297, 150092402], [150094273, 150094305], [150111089, 150111194], [150114684, 150114768]] [[150092335, 150092402], [150094273, 150094305], [150111089, 150111194], [150114684, 150114768]]
ENST00000480010 [[150131175, 150131259], [150131751, 150132044]] None
NM_001252053 [[150070830, 150071092], [150092297, 150092402], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805], [150117550, 150117636], [150123335, 150123667]] [[150070863, 150071092], [150092297, 150092402], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805], [150117550, 150117636], [150123335, 150123515]]
NM_001252051 [[150070830, 150071092], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805], [150117550, 150117636], [150123335, 150123552], [150131751, 150132557]] [[150070863, 150071092], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805], [150117550, 150117636], [150123335, 150123515]]
NM_001252052 [[150070830, 150071092], [150092297, 150092402], [150094273, 150094305], [150114684, 150114805], [150117550, 150117636], [150123335, 150123505], [150131751, 150132557]] [[150070863, 150071092], [150092297, 150092402], [150094273, 150094305], [150114684, 150114805], [150117550, 150117636], [150123335, 150123505], [150131751, 150131764]]
NM_001252050 [[150070830, 150071092], [150092297, 150092402], [150094273, 150094305], [150114684, 150114805], [150117550, 150117636], [150123335, 150123552], [150131751, 150132557]] [[150070863, 150071092], [150092297, 150092402], [150094273, 150094305], [150114684, 150114805], [150117550, 150117636], [150123335, 150123515]]
NM_001252049 [[150070830, 150071092], [150092297, 150092402], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805], [150117550, 150117636], [150123335, 150123505], [150131751, 150132557]] [[150070863, 150071092], [150092297, 150092402], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805], [150117550, 150117636], [150123335, 150123505], [150131751, 150131764]]
NM_005389 [[150070830, 150071092], [150092297, 150092402], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805], [150117550, 150117636], [150123335, 150123552], [150131751, 150132557]] [[150070863, 150071092], [150092297, 150092402], [150094273, 150094305], [150111089, 150111194], [150114684, 150114805], [150117550, 150117636], [150123335, 150123515]]
Promoter
Chrom Start End Description
chr6 150070847 150070856 CAGE_peak_2_at_PCMT1_5end
chr6 150070857 150070920 CAGE_peak_1_at_PCMT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I149748 149748232 149751540 2.05 [{'connected_gene': 'NUP43', 'score': 566.84}, {'connected_gene': 'PCMT1', 'score': 550.77}, {'connected_gene': 'ENSG00000231760', 'score': 70.99}, {'connected_gene': 'LATS1', 'score': 15.9}, {'connected_gene': 'GINM1', 'score': 15.3}, {'connected_gene': 'PPIL4', 'score': 12.88}, {'connected_gene': 'RPS18P9', 'score': 10.49}, {'connected_gene': 'BTBD10P2', 'score': 0.26}, {'connected_gene': 'GC06P149237', 'score': 0.03}]
chr6 GH06I149745 149745435 149747385 2.06 [{'connected_gene': 'NUP43', 'score': 550.77}, {'connected_gene': 'ENSG00000231760', 'score': 37.77}, {'connected_gene': 'PCMT1', 'score': 0.77}, {'connected_gene': 'LATS1', 'score': 0.31}, {'connected_gene': 'GC06P149237', 'score': 0.03}]
chr6 GH06I149723 149723905 149724094 0.93 [{'connected_gene': 'GINM1', 'score': 10.41}, {'connected_gene': 'ENSG00000202343', 'score': 10.34}, {'connected_gene': 'ENSG00000233330', 'score': 10.33}, {'connected_gene': 'RPS18P9', 'score': 10.33}, {'connected_gene': 'RAET1E', 'score': 9.95}, {'connected_gene': 'LATS1', 'score': 0.44}, {'connected_gene': 'PCMT1', 'score': 0.31}, {'connected_gene': 'GC06P149237', 'score': 0.04}]
chr6 GH06I149565 149565007 149568079 2.07 [{'connected_gene': 'GINM1', 'score': 557.87}, {'connected_gene': 'ENSG00000231760', 'score': 44.35}, {'connected_gene': 'RAET1E', 'score': 5.16}, {'connected_gene': 'PCMT1', 'score': 4.87}, {'connected_gene': 'GC06M149575', 'score': 0.44}, {'connected_gene': 'GC06P149237', 'score': 0.05}]
chr6 GH06I149727 149727698 149730707 1.17 [{'connected_gene': 'ENSG00000231760', 'score': 40.32}, {'connected_gene': 'LATS1', 'score': 0.39}, {'connected_gene': 'PCMT1', 'score': 0.34}, {'connected_gene': 'NUP43', 'score': 0.34}, {'connected_gene': 'GC06P149237', 'score': 0.04}]
chr6 GH06I149755 149755184 149756413 1.21 [{'connected_gene': 'ENSG00000231760', 'score': 62.41}, {'connected_gene': 'LATS1', 'score': 16.97}, {'connected_gene': 'NUP43', 'score': 15.67}, {'connected_gene': 'PPIL4', 'score': 12.11}, {'connected_gene': 'KATNA1', 'score': 10.44}, {'connected_gene': 'RAET1E', 'score': 9.56}, {'connected_gene': 'PCMT1', 'score': 0.44}, {'connected_gene': 'BTBD10P2', 'score': 0.28}, {'connected_gene': 'GC06P149237', 'score': 0.03}]
chr6 GH06I149761 149761353 149762000 0.94 [{'connected_gene': 'ENSG00000231760', 'score': 52.42}, {'connected_gene': 'RPS18P9', 'score': 19.79}, {'connected_gene': 'LATS1', 'score': 11.51}, {'connected_gene': 'ENSG00000233330', 'score': 9.84}, {'connected_gene': 'ENSG00000202343', 'score': 9.84}, {'connected_gene': 'PCMT1', 'score': 0.39}, {'connected_gene': 'NUP43', 'score': 0.39}, {'connected_gene': 'BTBD10P2', 'score': 0.29}, {'connected_gene': 'GC06P149237', 'score': 0.03}]
chr6 GH06I149763 149763965 149764114 0.2 [{'connected_gene': 'ENSG00000231760', 'score': 12.26}, {'connected_gene': 'RAET1E', 'score': 10.29}, {'connected_gene': 'ENSG00000202343', 'score': 10.1}, {'connected_gene': 'ENSG00000233330', 'score': 10.09}, {'connected_gene': 'RPS18P9', 'score': 10.09}, {'connected_gene': 'GINM1', 'score': 9.85}, {'connected_gene': 'PCMT1', 'score': 0.39}, {'connected_gene': 'NUP43', 'score': 0.39}, {'connected_gene': 'BTBD10P2', 'score': 0.29}, {'connected_gene': 'GC06P149237', 'score': 0.03}]
chr6 GH06I149754 149754544 149754800 0.47 [{'connected_gene': 'ENSG00000231760', 'score': 11.14}, {'connected_gene': 'RAET1E', 'score': 9.56}, {'connected_gene': 'SUMO4', 'score': 1.76}, {'connected_gene': 'PCMT1', 'score': 0.44}, {'connected_gene': 'NUP43', 'score': 0.44}, {'connected_gene': 'BTBD10P2', 'score': 0.26}, {'connected_gene': 'GC06P149237', 'score': 0.03}]
chr6 GH06I149778 149778421 149779882 0.2 [{'connected_gene': 'ENSG00000231760', 'score': 51.74}, {'connected_gene': 'RAET1E', 'score': 10.21}, {'connected_gene': 'BTBD10P2', 'score': 0.37}, {'connected_gene': 'PCMT1', 'score': 0.31}, {'connected_gene': 'NUP43', 'score': 0.31}, {'connected_gene': 'GC06P149237', 'score': 0.03}]

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