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
ENST00000360605 [[30414550, 30414661], [30462099, 30462134], [30476129, 30476208], [30477188, 30477324], [30496267, 30496359], [30496557, 30496615], [30498376, 30498545], [30499911, 30500260], [30502000, 30502143], [30503191, 30503438], [30506442, 30506602]] [[30414598, 30414661], [30462099, 30462134], [30476129, 30476208], [30477188, 30477324], [30496267, 30496359], [30496557, 30496615], [30498376, 30498545], [30499911, 30500260], [30502000, 30502143], [30503191, 30503438], [30506442, 30506499]]
ENST00000570564 [[30414563, 30414661], [30462099, 30462134], [30471065, 30471271], [30476129, 30476208], [30477188, 30477284]] [[30476205, 30476208], [30477188, 30477284]]
ENST00000574233 [[30414597, 30414661], [30448883, 30448979], [30462099, 30462134], [30476129, 30476208], [30477188, 30477324], [30496267, 30496343]] [[30476205, 30476208], [30477188, 30477324], [30496267, 30496343]]
ENST00000574766 [[30414618, 30414661], [30428549, 30428904]] None
ENST00000585655 [[30414640, 30414661], [30416440, 30416804]] [[30414640, 30414661], [30416440, 30416473]]
ENST00000542441 [[30433157, 30433571], [30462099, 30462134], [30476129, 30476208], [30477188, 30477324], [30496267, 30496359], [30496557, 30496615], [30498376, 30498545], [30499911, 30500260], [30502000, 30502143], [30503191, 30503438], [30505793, 30506607]] [[30433454, 30433571], [30462099, 30462134], [30476129, 30476208], [30477188, 30477324], [30496267, 30496359], [30496557, 30496615], [30498376, 30498545], [30499911, 30500260], [30502000, 30502143], [30503191, 30503438], [30505793, 30505976]]
ENST00000392271 [[30433157, 30433571], [30462099, 30462134], [30476129, 30476208], [30477188, 30477324], [30496267, 30496359], [30496557, 30496615], [30498376, 30498545], [30499911, 30500260], [30502000, 30502143], [30503191, 30503438], [30505793, 30506611]] [[30476205, 30476208], [30477188, 30477324], [30496267, 30496359], [30496557, 30496615], [30498376, 30498545], [30499911, 30500260], [30502000, 30502143], [30503191, 30503438], [30505793, 30505976]]
ENST00000574110 [[30433167, 30433571], [30476129, 30476208], [30477188, 30477324], [30496267, 30496359], [30496557, 30496615], [30498376, 30498545], [30499911, 30500260], [30502000, 30502143], [30503191, 30503438], [30505793, 30506611]] [[30433454, 30433571], [30476129, 30476144]]
ENST00000574666 [[30433217, 30433571], [30462099, 30462134], [30471065, 30471157], [30476129, 30476208], [30477188, 30477324], [30496267, 30496359], [30496557, 30496613]] [[30433454, 30433571], [30462099, 30462134], [30471065, 30471066]]
ENST00000312051 [[30433424, 30433571], [30476129, 30476208], [30477188, 30477324], [30496267, 30496359], [30496557, 30496615], [30498376, 30498545], [30499911, 30500260], [30502000, 30502143], [30503191, 30503438], [30505793, 30506611]] [[30433539, 30433571], [30476129, 30476208], [30477188, 30477324], [30496267, 30496359], [30496557, 30496615], [30498376, 30498545], [30499911, 30500260], [30502000, 30502143], [30503191, 30503438], [30505793, 30505976]]
ENST00000576442 [[30461999, 30462134], [30476129, 30476208], [30477188, 30477324], [30496267, 30496359], [30496557, 30496615], [30498376, 30498454]] [[30476205, 30476208], [30477188, 30477324], [30496267, 30496359], [30496557, 30496615], [30498376, 30498454]]
ENST00000570704 [[30474139, 30474223], [30476129, 30476208], [30477188, 30477324], [30496267, 30496359], [30496557, 30496615], [30498376, 30498486]] None
ENST00000574176 [[30495201, 30495463], [30496267, 30496359], [30496557, 30496615], [30498376, 30498545], [30499911, 30499926]] None
ENST00000575242 [[30499986, 30500260], [30502000, 30502143], [30503191, 30503806]] [[30499986, 30500260], [30502000, 30502143], [30503191, 30503459]]
ENST00000573052 [[30503329, 30503438], [30505087, 30505129], [30505793, 30505933]] [[30503329, 30503438], [30505087, 30505099]]
NM_001252641 [[30414550, 30414661], [30462099, 30462134], [30476129, 30476208], [30477188, 30477324], [30496267, 30496359], [30496557, 30496615], [30498376, 30498545], [30499911, 30500260], [30502000, 30502143], [30503191, 30503438], [30506442, 30507519]] [[30414598, 30414661], [30462099, 30462134], [30476129, 30476208], [30477188, 30477324], [30496267, 30496359], [30496557, 30496615], [30498376, 30498545], [30499911, 30500260], [30502000, 30502143], [30503191, 30503438], [30506442, 30506499]]
NR_045557 [[30433145, 30433571], [30476129, 30476208], [30477188, 30477324], [30496267, 30496359], [30496557, 30496615], [30498376, 30498545], [30499911, 30500260], [30502000, 30502143], [30503191, 30503438], [30505793, 30507519]] None
NM_003796 [[30433145, 30433571], [30462099, 30462134], [30476129, 30476208], [30477188, 30477324], [30496267, 30496359], [30496557, 30496615], [30498376, 30498545], [30499911, 30500260], [30502000, 30502143], [30503191, 30503438], [30505793, 30507519]] [[30433454, 30433571], [30462099, 30462134], [30476129, 30476208], [30477188, 30477324], [30496267, 30496359], [30496557, 30496615], [30498376, 30498545], [30499911, 30500260], [30502000, 30502143], [30503191, 30503438], [30505793, 30505976]]
Promoter
Chrom Start End Description
chr19 30414558 30414579 CAGE_peak_9_at_URI1_5end
chr19 30433110 30433214 CAGE_peak_1_at_URI1_5end
chr19 30433219 30433233 CAGE_peak_3_at_URI1_5end
chr19 30433372 30433456 CAGE_peak_2_at_URI1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I029830 29830754 29832163 0.93 [{'connected_gene': 'CCNE1', 'score': 14.9}, {'connected_gene': 'URI1', 'score': 2.16}, {'connected_gene': 'C19orf12', 'score': 1.95}, {'connected_gene': 'PLEKHF1', 'score': 1.68}, {'connected_gene': 'POP4', 'score': 1.44}, {'connected_gene': 'ENSG00000267433', 'score': 0.19}, {'connected_gene': 'GC19P029609', 'score': 0.07}]
chr19 GH19I029759 29759971 29760600 1.13 [{'connected_gene': 'CCNE1', 'score': 17.84}, {'connected_gene': 'URI1', 'score': 11.35}, {'connected_gene': 'C19orf12', 'score': 0.26}, {'connected_gene': 'GC19P029609', 'score': 0.1}]
chr19 GH19I029963 29963633 29966464 0.92 [{'connected_gene': 'URI1', 'score': 11.99}, {'connected_gene': 'CCNE1', 'score': 10.1}, {'connected_gene': 'RPL9P32', 'score': 0.44}, {'connected_gene': 'GC19P029979', 'score': 0.39}, {'connected_gene': 'GC19P029609', 'score': 0.05}]
chr19 GH19I029870 29870664 29875925 1.34 [{'connected_gene': 'URI1', 'score': 22.77}, {'connected_gene': 'CCNE1', 'score': 17.97}, {'connected_gene': 'ENSG00000267528', 'score': 5.13}, {'connected_gene': 'ENSG00000267433', 'score': 0.31}, {'connected_gene': 'GC19P029609', 'score': 0.07}]
chr19 GH19I030632 30632549 30637530 0.46 [{'connected_gene': 'URI1', 'score': 13.95}, {'connected_gene': 'RPL9P32', 'score': 13.25}, {'connected_gene': 'GC19M030643', 'score': 0.44}, {'connected_gene': 'GC19P030577', 'score': 0.22}, {'connected_gene': 'ZNF536', 'score': 0.05}]
chr19 GH19I029941 29941354 29945684 2.22 [{'connected_gene': 'URI1', 'score': 555.44}, {'connected_gene': 'RPL9P32', 'score': 12.17}, {'connected_gene': 'POP4', 'score': 10.02}, {'connected_gene': 'GC19M029957', 'score': 0.39}, {'connected_gene': 'GC19P029925', 'score': 0.37}, {'connected_gene': 'GC19P029609', 'score': 0.06}]
chr19 GH19I030374 30374362 30376804 0.77 [{'connected_gene': 'URI1', 'score': 13.97}, {'connected_gene': 'TSHZ3', 'score': 4.99}, {'connected_gene': 'GC19P030357', 'score': 0.37}, {'connected_gene': 'GC19P030448', 'score': 0.19}, {'connected_gene': 'ZNF536', 'score': 0.1}, {'connected_gene': 'GC19P029609', 'score': 0.02}]
chr19 GH19I029587 29587085 29588225 0.87 [{'connected_gene': 'URI1', 'score': 13.98}, {'connected_gene': 'POP4', 'score': 10.71}, {'connected_gene': 'ZNF536', 'score': 6.31}, {'connected_gene': 'ENSG00000266248', 'score': 0.21}]
chr19 GH19I029364 29364190 29365005 0.43 [{'connected_gene': 'URI1', 'score': 13.95}, {'connected_gene': 'GC19M029315', 'score': 0.44}, {'connected_gene': 'GC19M029385', 'score': 0.34}, {'connected_gene': 'LOC284395', 'score': 0.1}]
chr19 GH19I029923 29923608 29923667 0.5 [{'connected_gene': 'URI1', 'score': 550.77}, {'connected_gene': 'GC19P029925', 'score': 550.77}, {'connected_gene': 'PPIAP58', 'score': 0.77}, {'connected_gene': 'GC19P029609', 'score': 0.06}]
chr19 GH19I029927 29927962 29928543 0.66 [{'connected_gene': 'URI1', 'score': 0.77}, {'connected_gene': 'GC19P029925', 'score': 0.77}, {'connected_gene': 'GC19M029957', 'score': 0.31}, {'connected_gene': 'GC19P029609', 'score': 0.06}]
chr19 GH19I029711 29711240 29717303 2.47 [{'connected_gene': 'C19orf12', 'score': 563.55}, {'connected_gene': 'ENSG00000266910', 'score': 24.98}, {'connected_gene': 'URI1', 'score': 14.0}, {'connected_gene': 'RPL9P32', 'score': 13.29}, {'connected_gene': 'POP4', 'score': 10.48}, {'connected_gene': 'GC19M029684', 'score': 0.31}, {'connected_gene': 'GC19P029609', 'score': 0.15}]
chr19 GH19I029679 29679524 29682851 1.39 [{'connected_gene': 'C19orf12', 'score': 8.25}, {'connected_gene': 'PLEKHF1', 'score': 3.71}, {'connected_gene': 'URI1', 'score': 1.22}, {'connected_gene': 'GC19M029684', 'score': 0.44}, {'connected_gene': 'LOC105372353', 'score': 0.37}, {'connected_gene': 'GC19P029609', 'score': 0.19}]
chr19 GH19I029660 29660735 29677952 2.83 [{'connected_gene': 'PLEKHF1', 'score': 564.82}, {'connected_gene': 'RPL9P32', 'score': 54.59}, {'connected_gene': 'ENSG00000266910', 'score': 43.65}, {'connected_gene': 'URI1', 'score': 40.51}, {'connected_gene': 'POP4', 'score': 18.84}, {'connected_gene': 'ZNF536', 'score': 11.88}, {'connected_gene': 'C19orf12', 'score': 10.13}, {'connected_gene': 'LOC105372352', 'score': 9.9}, {'connected_gene': 'LOC105372353', 'score': 0.77}, {'connected_gene': 'GC19M029664', 'score': 0.44}, {'connected_gene': 'GC19M029663', 'score': 0.44}, {'connected_gene': 'GC19M029661', 'score': 0.44}, {'connected_gene': 'GC19M029684', 'score': 0.37}, {'connected_gene': 'GC19P029609', 'score': 0.22}]
chr19 GH19I030366 30366302 30368961 0.54 [{'connected_gene': 'RPL9P32', 'score': 12.34}, {'connected_gene': 'URI1', 'score': 11.44}, {'connected_gene': 'GC19P030357', 'score': 0.44}, {'connected_gene': 'GC19P030448', 'score': 0.18}, {'connected_gene': 'ZNF536', 'score': 0.11}, {'connected_gene': 'GC19P029609', 'score': 0.03}]
chr19 GH19I030661 30661973 30663363 1.5 [{'connected_gene': 'RPL9P32', 'score': 24.42}, {'connected_gene': 'URI1', 'score': 13.95}, {'connected_gene': 'ENSG00000267760', 'score': 0.44}, {'connected_gene': 'GC19M030643', 'score': 0.37}, {'connected_gene': 'ZNF536', 'score': 0.05}]
chr19 GH19I029528 29528434 29529884 1.09 [{'connected_gene': 'RPL9P32', 'score': 12.33}, {'connected_gene': 'URI1', 'score': 11.45}, {'connected_gene': 'VSTM2B', 'score': 0.77}, {'connected_gene': 'ENSG00000266248', 'score': 0.77}, {'connected_gene': 'POP4', 'score': 0.19}]
chr19 GH19I029696 29696528 29698627 0.69 [{'connected_gene': 'RPL9P32', 'score': 33.28}, {'connected_gene': 'URI1', 'score': 32.2}, {'connected_gene': 'POP4', 'score': 10.5}, {'connected_gene': 'C19orf12', 'score': 9.86}, {'connected_gene': 'GC19M029684', 'score': 0.39}, {'connected_gene': 'GC19P029609', 'score': 0.17}]
chr19 GH19I029957 29957010 29957387 0.73 [{'connected_gene': 'RPL9P32', 'score': 550.77}, {'connected_gene': 'GC19M029957', 'score': 550.77}, {'connected_gene': 'URI1', 'score': 11.42}, {'connected_gene': 'GC19P029979', 'score': 0.34}, {'connected_gene': 'GC19P029609', 'score': 0.05}]
chr19 GH19I029966 29966608 29968162 1.02 [{'connected_gene': 'RPL9P32', 'score': 0.39}, {'connected_gene': 'GC19P029979', 'score': 0.39}, {'connected_gene': 'URI1', 'score': 0.26}, {'connected_gene': 'GC19P029609', 'score': 0.05}]
chr19 GH19I029488 29488879 29493862 0.54 [{'connected_gene': 'RPL9P32', 'score': 15.02}, {'connected_gene': 'VSTM2B', 'score': 12.14}, {'connected_gene': 'URI1', 'score': 11.44}, {'connected_gene': 'ENSG00000279387', 'score': 0.37}, {'connected_gene': 'LOC284395', 'score': 0.29}, {'connected_gene': 'ENSG00000266248', 'score': 0.28}, {'connected_gene': 'ENSG00000267574', 'score': 0.26}]
chr19 GH19I030035 30035800 30037146 0.59 [{'connected_gene': 'TAF9P3', 'score': 550.77}, {'connected_gene': 'GC19M030037', 'score': 550.77}, {'connected_gene': 'ENSG00000266910', 'score': 550.77}, {'connected_gene': 'URI1', 'score': 6.2}, {'connected_gene': 'ENSG00000267006', 'score': 0.44}, {'connected_gene': 'GC19P029609', 'score': 0.04}]
chr19 GH19I030276 30276151 30277366 1.36 [{'connected_gene': 'GC19P030276', 'score': 550.77}, {'connected_gene': 'URI1', 'score': 13.98}, {'connected_gene': 'ZNF536', 'score': 0.23}, {'connected_gene': 'GC19P030333', 'score': 0.22}, {'connected_gene': 'GC19P029609', 'score': 0.03}]
chr19 GH19I029686 29686120 29688995 1.41 [{'connected_gene': 'GC19M029684', 'score': 550.77}, {'connected_gene': 'ENSG00000266910', 'score': 25.47}, {'connected_gene': 'URI1', 'score': 23.47}, {'connected_gene': 'RPL9P32', 'score': 20.25}, {'connected_gene': 'POP4', 'score': 11.65}, {'connected_gene': 'C19orf12', 'score': 9.18}, {'connected_gene': 'GC19P029609', 'score': 0.18}]
chr19 GH19I030003 30003707 30004596 1.48 [{'connected_gene': 'GC19M029979', 'score': 0.34}, {'connected_gene': 'ENSG00000267006', 'score': 0.31}, {'connected_gene': 'URI1', 'score': 0.18}, {'connected_gene': 'GC19P029609', 'score': 0.05}]
chr19 GH19I029840 29840624 29846400 1.7 [{'connected_gene': 'ENSG00000266910', 'score': 22.43}, {'connected_gene': 'RPL9P32', 'score': 20.79}, {'connected_gene': 'URI1', 'score': 10.58}, {'connected_gene': 'CCNE1', 'score': 8.7}, {'connected_gene': 'ENSG00000267433', 'score': 0.22}, {'connected_gene': 'GC19P029609', 'score': 0.07}]

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