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
ENST00000380741 [[69345349, 69345593], [69359241, 69359313], [69361791, 69361911], [69362760, 69362961], [69363120, 69363273], [69365061, 69365157], [69366467, 69366578], [69372845, 69373421]] [[69345512, 69345593], [69359241, 69359313], [69361791, 69361911], [69362760, 69362961], [69363120, 69363273], [69365061, 69365157], [69366467, 69366578], [69372845, 69372860]]
ENST00000380743 [[69345438, 69345593], [69359241, 69359313], [69361791, 69361911], [69362760, 69362961], [69363120, 69363273], [69365061, 69365157], [69366467, 69366578], [69372347, 69372401], [69372845, 69373419]] [[69345512, 69345593], [69359241, 69359313], [69361791, 69361911], [69362760, 69362961], [69363120, 69363273], [69365061, 69365157], [69366467, 69366578], [69372347, 69372398]]
ENST00000511812 [[69345464, 69345593], [69359241, 69359313], [69361791, 69361911], [69363120, 69363273], [69365061, 69365157], [69366467, 69366578], [69372347, 69372533]] [[69345512, 69345593], [69359241, 69359313], [69361791, 69361911], [69363120, 69363273], [69365061, 69365157], [69366467, 69366578], [69372347, 69372398]]
ENST00000506734 [[69345483, 69345593], [69359241, 69359313], [69361791, 69361911], [69362760, 69362961], [69363120, 69363273], [69365061, 69365157], [69366467, 69366578], [69367108, 69367217], [69372845, 69373423]] [[69345512, 69345593], [69359241, 69359313], [69361791, 69361911], [69362760, 69362961], [69363120, 69363273], [69365061, 69365157], [69366467, 69366578], [69367108, 69367159]]
ENST00000380742 [[69345490, 69345593], [69359241, 69359313], [69361791, 69361911], [69362760, 69362961], [69363120, 69363273], [69366467, 69366578], [69372347, 69372401], [69372845, 69373419]] [[69345512, 69345593], [69359241, 69359313], [69361791, 69361911], [69362760, 69362961], [69363120, 69363273], [69366467, 69366578], [69372347, 69372398]]
ENST00000503678 [[69359237, 69359313], [69361791, 69361911], [69362760, 69362961], [69363120, 69363273], [69365061, 69365157], [69366467, 69366582]] None
ENST00000511873 [[69362910, 69362961], [69363120, 69363273], [69364852, 69364969], [69365061, 69365157], [69366467, 69366481]] [[69362910, 69362961], [69363120, 69363273], [69364852, 69364888]]
ENST00000509805 [[69362920, 69362961], [69363120, 69363273], [69365061, 69365157], [69366467, 69366676]] None
ENST00000505346 [[69362925, 69362961], [69363120, 69363273], [69366467, 69366578], [69372347, 69372754]] None
ENST00000514914 [[69363105, 69363273], [69365061, 69365157], [69366467, 69366578], [69372347, 69372401], [69372845, 69373078]] None
ENST00000508258 [[69365059, 69365157], [69366467, 69366580]] None
ENST00000507458 [[69366490, 69366578], [69372347, 69372401], [69372845, 69372987], [69373588, 69374349]] [[69366490, 69366578], [69372347, 69372398]]
NM_022877 [[69345349, 69345593], [69359241, 69359313], [69361791, 69361911], [69362760, 69362961], [69363120, 69363273], [69366467, 69366578], [69372845, 69373422]] [[69345512, 69345593], [69359241, 69359313], [69361791, 69361911], [69362760, 69362961], [69363120, 69363273], [69366467, 69366578], [69372845, 69372860]]
NM_022876 [[69345349, 69345593], [69359241, 69359313], [69361791, 69361911], [69362760, 69362961], [69363120, 69363273], [69366467, 69366578], [69372347, 69372401], [69372845, 69373422]] [[69345512, 69345593], [69359241, 69359313], [69361791, 69361911], [69362760, 69362961], [69363120, 69363273], [69366467, 69366578], [69372347, 69372398]]
NM_022875 [[69345349, 69345593], [69359241, 69359313], [69361791, 69361911], [69362760, 69362961], [69363120, 69363273], [69365061, 69365157], [69366467, 69366578], [69372845, 69373422]] [[69345512, 69345593], [69359241, 69359313], [69361791, 69361911], [69362760, 69362961], [69363120, 69363273], [69365061, 69365157], [69366467, 69366578], [69372845, 69372860]]
NM_017411 [[69345349, 69345593], [69359241, 69359313], [69361791, 69361911], [69362760, 69362961], [69363120, 69363273], [69365061, 69365157], [69366467, 69366578], [69372347, 69372401], [69372845, 69373422]] [[69345512, 69345593], [69359241, 69359313], [69361791, 69361911], [69362760, 69362961], [69363120, 69363273], [69365061, 69365157], [69366467, 69366578], [69372347, 69372398]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I069516 69516342 69522247 1.44 [{'connected_gene': 'GTF2H2C', 'score': 35.45}, {'connected_gene': 'ENSG00000198237', 'score': 32.17}, {'connected_gene': 'ENSG00000254701', 'score': 30.22}, {'connected_gene': 'GUSBP3', 'score': 22.98}, {'connected_gene': 'ENSG00000253333', 'score': 22.88}, {'connected_gene': 'CDH12P2', 'score': 21.21}, {'connected_gene': 'SLC30A5', 'score': 20.59}, {'connected_gene': 'RAD17', 'score': 17.03}, {'connected_gene': 'SMA4', 'score': 12.75}, {'connected_gene': 'OCLN', 'score': 11.89}, {'connected_gene': 'MARVELD2', 'score': 10.82}, {'connected_gene': 'GTF2H2B', 'score': 10.66}, {'connected_gene': 'AK6', 'score': 10.47}, {'connected_gene': 'CDK7', 'score': 10.32}, {'connected_gene': 'SERF1B', 'score': 9.72}, {'connected_gene': 'ENSG00000250138', 'score': 5.01}, {'connected_gene': 'SMN2', 'score': 4.36}, {'connected_gene': 'GC05M069532', 'score': 0.39}, {'connected_gene': 'RNU6-724P', 'score': 0.39}, {'connected_gene': 'LOC101928924', 'score': 0.37}]
chr5 GH05I070049 70049000 70051001 1.29 [{'connected_gene': 'SMN2', 'score': 550.77}, {'connected_gene': 'GC05M070055', 'score': 0.44}]
chr5 GH05I069093 69093220 69095667 2.09 [{'connected_gene': 'SLC30A5', 'score': 556.28}, {'connected_gene': 'SNORA50D', 'score': 11.81}, {'connected_gene': 'CCNB1', 'score': 11.79}, {'connected_gene': 'CENPH', 'score': 11.4}, {'connected_gene': 'GTF2H2C', 'score': 10.3}, {'connected_gene': 'OCLN', 'score': 5.81}, {'connected_gene': 'SMN2', 'score': 5.44}, {'connected_gene': 'ENSG00000248664', 'score': 0.26}]
chr5 GH05I069105 69105778 69107145 0.89 [{'connected_gene': 'SNORA50D', 'score': 12.14}, {'connected_gene': 'CCNB1', 'score': 12.12}, {'connected_gene': 'CENPH', 'score': 11.49}, {'connected_gene': 'CDK7', 'score': 10.65}, {'connected_gene': 'SMN2', 'score': 5.91}, {'connected_gene': 'OCLN', 'score': 4.49}, {'connected_gene': 'SLC30A5', 'score': 0.39}, {'connected_gene': 'ENSG00000248664', 'score': 0.31}]
chr5 GH05I069233 69233799 69236033 2.06 [{'connected_gene': 'CDK7', 'score': 565.02}, {'connected_gene': 'CCDC125', 'score': 20.64}, {'connected_gene': 'SLC30A5', 'score': 17.66}, {'connected_gene': 'GTF2H2C', 'score': 16.33}, {'connected_gene': 'ENSG00000198237', 'score': 12.79}, {'connected_gene': 'ENSG00000254701', 'score': 12.63}, {'connected_gene': 'CENPH', 'score': 11.42}, {'connected_gene': 'CCNB1', 'score': 11.23}, {'connected_gene': 'SNORA50D', 'score': 10.66}, {'connected_gene': 'SMN2', 'score': 10.33}, {'connected_gene': 'CDH12P2', 'score': 5.4}, {'connected_gene': 'GC05P069260', 'score': 0.34}, {'connected_gene': 'GC05P069259', 'score': 0.34}]
chr5 GH05I069449 69449754 69455961 1.26 [{'connected_gene': 'OCLN', 'score': 22.97}, {'connected_gene': 'CCDC125', 'score': 16.23}, {'connected_gene': 'RAD17', 'score': 14.93}, {'connected_gene': 'LOC101928924', 'score': 12.7}, {'connected_gene': 'MARVELD2', 'score': 12.29}, {'connected_gene': 'GTF2H2C', 'score': 6.02}, {'connected_gene': 'ENSG00000250138', 'score': 5.98}, {'connected_gene': 'ENSG00000198237', 'score': 5.25}, {'connected_gene': 'SMN2', 'score': 4.35}, {'connected_gene': 'GC05P069455', 'score': 0.77}, {'connected_gene': 'GC05M069454', 'score': 0.77}]
chr5 GH05I070076 70076801 70077600 0.2 [{'connected_gene': 'GC05P070078', 'score': 0.77}, {'connected_gene': 'GC05P070080', 'score': 0.77}, {'connected_gene': 'PIR49070', 'score': 0.37}, {'connected_gene': 'SMN2', 'score': 0.31}]

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