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
ENST00000262219 [[124693033, 124693599], [124696849, 124696962], [124701110, 124701186], [124705436, 124705538], [124705950, 124706019], [124707741, 124707821], [124707927, 124707961], [124710628, 124710799], [124714881, 124714976], [124724917, 124724993], [124747994, 124748117], [124749559, 124749642]] [[124693479, 124693599], [124696849, 124696962], [124701110, 124701186], [124705436, 124705538], [124705950, 124706019], [124707741, 124707821], [124707927, 124707961], [124710628, 124710799], [124714881, 124714976], [124724917, 124724993], [124747994, 124748117], [124749559, 124749574]]
ENST00000419625 [[124693034, 124693599], [124696849, 124696962], [124701110, 124701186], [124705436, 124705538], [124705950, 124706019], [124707741, 124707821], [124707927, 124707961], [124710628, 124710799], [124714881, 124714976], [124724917, 124724993], [124749559, 124749647]] [[124693479, 124693599], [124696849, 124696962], [124701110, 124701186], [124705436, 124705538], [124705950, 124706019], [124707741, 124707821], [124707927, 124707961], [124710628, 124710799], [124714881, 124714976], [124724917, 124724993], [124749559, 124749574]]
ENST00000520519 [[124707786, 124707821], [124707927, 124707961], [124710628, 124710799], [124714881, 124714976], [124724917, 124724993], [124741336, 124741488]] [[124707786, 124707821], [124707927, 124707961], [124710628, 124710799], [124714881, 124714976], [124724917, 124724921]]
ENST00000523822 [[124723872, 124724993], [124739908, 124740751]] None
ENST00000520591 [[124724948, 124724993], [124739908, 124740163]] None
ENST00000519045 [[124740509, 124740922], [124741336, 124741490]] None
NM_001003954 [[124693033, 124693599], [124696849, 124696962], [124701110, 124701186], [124705436, 124705538], [124705950, 124706019], [124707741, 124707821], [124707927, 124707961], [124710628, 124710799], [124714881, 124714976], [124724917, 124724993], [124747994, 124748117], [124749559, 124749666]] [[124693479, 124693599], [124696849, 124696962], [124701110, 124701186], [124705436, 124705538], [124705950, 124706019], [124707741, 124707821], [124707927, 124707961], [124710628, 124710799], [124714881, 124714976], [124724917, 124724993], [124747994, 124748117], [124749559, 124749574]]
NM_004306 [[124693033, 124693599], [124696849, 124696962], [124701110, 124701186], [124705436, 124705538], [124705950, 124706019], [124707741, 124707821], [124707927, 124707961], [124710628, 124710799], [124714881, 124714976], [124724917, 124724993], [124749559, 124749666]] [[124693479, 124693599], [124696849, 124696962], [124701110, 124701186], [124705436, 124705538], [124705950, 124706019], [124707741, 124707821], [124707927, 124707961], [124710628, 124710799], [124714881, 124714976], [124724917, 124724993], [124749559, 124749574]]
Promoter
Chrom Start End Description
chr8 124741451 124741493 CAGE_peak_3_at_ANXA13_5end
chr8 124749609 124749658 CAGE_peak_1_at_ANXA13_5end
chr8 124749672 124749682 CAGE_peak_2_at_ANXA13_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I123722 123722226 123724527 0.43 [{'connected_gene': 'WDYHV1', 'score': 11.44}, {'connected_gene': 'KLHL38', 'score': 10.67}, {'connected_gene': 'FAM91A1', 'score': 10.55}, {'connected_gene': 'TATDN1', 'score': 10.21}, {'connected_gene': 'ZHX1', 'score': 10.12}, {'connected_gene': 'FBXO32', 'score': 9.95}, {'connected_gene': 'LOC105375738', 'score': 9.68}, {'connected_gene': 'FAM83A-AS1', 'score': 9.27}, {'connected_gene': 'LOC105375739', 'score': 0.77}, {'connected_gene': 'ANXA13', 'score': 0.39}]
chr8 GH08I123460 123460955 123461951 0.51 [{'connected_gene': 'WDYHV1', 'score': 30.83}, {'connected_gene': 'ATAD2', 'score': 11.6}, {'connected_gene': 'ANXA13', 'score': 10.78}, {'connected_gene': 'FBXO32', 'score': 10.77}, {'connected_gene': 'DUTP2', 'score': 9.66}, {'connected_gene': 'MIR548AA1', 'score': 9.65}, {'connected_gene': 'RNU6-875P', 'score': 9.64}, {'connected_gene': 'ENSG00000278374', 'score': 0.44}, {'connected_gene': 'GC08M123499', 'score': 0.26}]
chr8 GH08I123462 123462801 123463200 1.02 [{'connected_gene': 'WDYHV1', 'score': 11.6}, {'connected_gene': 'ATAD2', 'score': 11.6}, {'connected_gene': 'ANXA13', 'score': 10.78}, {'connected_gene': 'FBXO32', 'score': 10.77}, {'connected_gene': 'MIR548AA1', 'score': 9.65}, {'connected_gene': 'DUTP2', 'score': 9.65}, {'connected_gene': 'RNU6-875P', 'score': 9.64}, {'connected_gene': 'ENSG00000278374', 'score': 0.44}, {'connected_gene': 'GC08M123499', 'score': 0.28}]
chr8 GH08I123487 123487561 123488664 0.63 [{'connected_gene': 'WDYHV1', 'score': 10.8}, {'connected_gene': 'ATAD2', 'score': 10.8}, {'connected_gene': 'FBXO32', 'score': 10.79}, {'connected_gene': 'LOC105375738', 'score': 10.29}, {'connected_gene': 'ANXA13', 'score': 10.16}, {'connected_gene': 'GC08M123499', 'score': 0.39}, {'connected_gene': 'ENSG00000278374', 'score': 0.29}]
chr8 GH08I123490 123490014 123490841 0.89 [{'connected_gene': 'WDYHV1', 'score': 15.9}, {'connected_gene': 'FBXO32', 'score': 11.08}, {'connected_gene': 'ATAD2', 'score': 10.8}, {'connected_gene': 'LOC105375738', 'score': 10.29}, {'connected_gene': 'ANXA13', 'score': 10.16}, {'connected_gene': 'KLHL38', 'score': 9.95}, {'connected_gene': 'GC08M123499', 'score': 0.39}, {'connected_gene': 'ENSG00000278374', 'score': 0.28}]
chr8 GH08I124194 124194017 124202681 1.74 [{'connected_gene': 'TRMT12', 'score': 34.73}, {'connected_gene': 'FAM91A1', 'score': 33.34}, {'connected_gene': 'TMEM65', 'score': 30.96}, {'connected_gene': 'WASHC5', 'score': 30.4}, {'connected_gene': 'WASHC5-AS1', 'score': 29.88}, {'connected_gene': 'RNF139-AS1', 'score': 22.34}, {'connected_gene': 'ZNF572', 'score': 19.71}, {'connected_gene': 'RNF139', 'score': 16.81}, {'connected_gene': 'NSMCE2', 'score': 13.44}, {'connected_gene': 'FER1L6-AS2', 'score': 12.96}, {'connected_gene': 'LOC105375740', 'score': 11.82}, {'connected_gene': 'RNU6-756P', 'score': 11.37}, {'connected_gene': 'ENSG00000254249', 'score': 11.31}, {'connected_gene': 'FER1L6-AS1', 'score': 11.31}, {'connected_gene': 'TATDN1', 'score': 10.49}, {'connected_gene': 'ENSG00000253106', 'score': 10.21}, {'connected_gene': 'WDYHV1', 'score': 9.66}, {'connected_gene': 'ANXA13', 'score': 4.87}, {'connected_gene': 'LOC101927588', 'score': 0.25}]
chr8 GH08I123688 123688970 123694931 1.2 [{'connected_gene': 'ANXA13', 'score': 15.95}, {'connected_gene': 'TATDN1', 'score': 14.16}, {'connected_gene': 'KLHL38', 'score': 11.18}, {'connected_gene': 'WDYHV1', 'score': 10.88}, {'connected_gene': 'ATAD2', 'score': 10.88}, {'connected_gene': 'LOC105375738', 'score': 10.72}, {'connected_gene': 'FBXO32', 'score': 10.54}, {'connected_gene': 'DUTP2', 'score': 10.32}, {'connected_gene': 'RNU6-875P', 'score': 10.32}, {'connected_gene': 'MIR548AA1', 'score': 10.31}, {'connected_gene': 'LOC105375739', 'score': 0.31}]
chr8 GH08I123685 123685521 123685670 0.4 [{'connected_gene': 'ANXA13', 'score': 11.43}, {'connected_gene': 'KLHL38', 'score': 10.93}, {'connected_gene': 'FBXO32', 'score': 10.3}, {'connected_gene': 'LOC105375739', 'score': 0.29}]
chr8 GH08I123777 123777201 123778200 0.63 [{'connected_gene': 'ANXA13', 'score': 11.13}, {'connected_gene': 'PIR45133', 'score': 0.44}, {'connected_gene': 'GC08P123773', 'score': 0.44}, {'connected_gene': 'FAM91A1', 'score': 0.44}, {'connected_gene': 'GC08P123742', 'score': 0.28}, {'connected_gene': 'FER1L6', 'score': 0.19}]
chr8 GH08I123727 123727456 123731198 0.38 [{'connected_gene': 'ANXA13', 'score': 11.89}, {'connected_gene': 'FAM91A1', 'score': 10.98}, {'connected_gene': 'KLHL38', 'score': 10.32}, {'connected_gene': 'WDYHV1', 'score': 9.86}, {'connected_gene': 'ATAD2', 'score': 9.86}, {'connected_gene': 'FBXO32', 'score': 9.71}, {'connected_gene': 'LOC105375739', 'score': 0.44}]
chr8 GH08I123724 123724579 123726683 0.31 [{'connected_gene': 'ANXA13', 'score': 11.12}, {'connected_gene': 'FAM91A1', 'score': 10.97}, {'connected_gene': 'KLHL38', 'score': 10.33}, {'connected_gene': 'WDYHV1', 'score': 10.17}, {'connected_gene': 'ATAD2', 'score': 10.17}, {'connected_gene': 'LOC105375738', 'score': 10.05}, {'connected_gene': 'FBXO32', 'score': 9.95}, {'connected_gene': 'DUTP2', 'score': 9.54}, {'connected_gene': 'MIR548AA1', 'score': 9.54}, {'connected_gene': 'RNU6-875P', 'score': 9.53}, {'connected_gene': 'FAM83A-AS1', 'score': 9.27}, {'connected_gene': 'DERL1', 'score': 6.28}, {'connected_gene': 'LOC105375739', 'score': 0.44}]
chr8 GH08I123742 123742911 123745907 0.79 [{'connected_gene': 'ANXA13', 'score': 10.62}, {'connected_gene': 'GC08P123742', 'score': 0.77}, {'connected_gene': 'FAM91A1', 'score': 0.34}, {'connected_gene': 'LOC105375739', 'score': 0.34}]
chr8 GH08I123699 123699825 123701297 0.56 [{'connected_gene': 'ANXA13', 'score': 6.83}, {'connected_gene': 'LOC105375739', 'score': 0.37}, {'connected_gene': 'KLHL38', 'score': 0.25}]
chr8 GH08I123707 123707875 123709218 1.12 [{'connected_gene': 'ANXA13', 'score': 5.37}, {'connected_gene': 'LOC105375739', 'score': 0.39}, {'connected_gene': 'KLHL38', 'score': 0.23}]
chr8 GH08I123733 123733557 123741761 1.62 [{'connected_gene': 'ANXA13', 'score': 563.34}, {'connected_gene': 'ENSG00000253106', 'score': 5.13}, {'connected_gene': 'GC08P123742', 'score': 0.77}, {'connected_gene': 'LOC105375739', 'score': 0.37}]
chr8 GH08I124190 124190212 124191940 0.4 [{'connected_gene': 'TMEM65', 'score': 10.7}, {'connected_gene': 'FER1L6-AS1', 'score': 10.52}, {'connected_gene': 'ENSG00000254249', 'score': 10.52}, {'connected_gene': 'ANXA13', 'score': 4.77}, {'connected_gene': 'FER1L6-AS2', 'score': 0.37}, {'connected_gene': 'LOC101927588', 'score': 0.22}]
chr8 GH08I123686 123686421 123688755 0.83 [{'connected_gene': 'FBXO32', 'score': 11.98}, {'connected_gene': 'KLHL38', 'score': 11.95}, {'connected_gene': 'ANXA13', 'score': 11.45}, {'connected_gene': 'FAM91A1', 'score': 10.98}, {'connected_gene': 'LOC105375738', 'score': 10.73}, {'connected_gene': 'WDYHV1', 'score': 10.59}, {'connected_gene': 'ATAD2', 'score': 10.59}, {'connected_gene': 'MIR548AA1', 'score': 9.53}, {'connected_gene': 'DUTP2', 'score': 9.53}, {'connected_gene': 'RNU6-875P', 'score': 9.53}, {'connected_gene': 'LOC105375739', 'score': 0.29}]
chr8 GH08I123679 123679506 123682152 0.92 [{'connected_gene': 'FBXO32', 'score': 6.28}, {'connected_gene': 'KLHL38', 'score': 0.31}, {'connected_gene': 'LOC105375739', 'score': 0.28}, {'connected_gene': 'ANXA13', 'score': 0.22}]
chr8 GH08I123682 123682591 123683707 0.81 [{'connected_gene': 'FBXO32', 'score': 14.76}, {'connected_gene': 'ANXA13', 'score': 11.43}, {'connected_gene': 'KLHL38', 'score': 10.95}, {'connected_gene': 'LOC105375739', 'score': 0.28}]
chr8 GH08I123534 123534075 123543054 2.64 [{'connected_gene': 'FBXO32', 'score': 554.68}, {'connected_gene': 'LOC105375738', 'score': 10.44}, {'connected_gene': 'ANXA13', 'score': 10.18}, {'connected_gene': 'RNF139-AS1', 'score': 10.13}, {'connected_gene': 'WDYHV1', 'score': 9.77}, {'connected_gene': 'ATAD2', 'score': 9.77}, {'connected_gene': 'GC08M123523', 'score': 0.39}]
chr8 GH08I123718 123718239 123721630 1.11 [{'connected_gene': 'LOC105375739', 'score': 550.77}, {'connected_gene': 'FAM91A1', 'score': 10.81}, {'connected_gene': 'FBXO32', 'score': 10.48}, {'connected_gene': 'WDYHV1', 'score': 10.13}, {'connected_gene': 'ATAD2', 'score': 10.13}, {'connected_gene': 'DUTP2', 'score': 9.55}, {'connected_gene': 'MIR548AA1', 'score': 9.55}, {'connected_gene': 'RNU6-875P', 'score': 9.55}, {'connected_gene': 'ENSG00000253106', 'score': 5.7}, {'connected_gene': 'ANXA13', 'score': 0.37}]
chr8 GH08I123579 123579841 123581914 1.05 [{'connected_gene': 'LOC105375738', 'score': 11.71}, {'connected_gene': 'KLHL38', 'score': 10.9}, {'connected_gene': 'ANXA13', 'score': 10.79}, {'connected_gene': 'FBXO32', 'score': 10.72}, {'connected_gene': 'WDYHV1', 'score': 9.9}, {'connected_gene': 'ATAD2', 'score': 9.9}, {'connected_gene': 'RN7SKP155', 'score': 0.44}, {'connected_gene': 'ENSG00000254113', 'score': 0.39}]
chr8 GH08I123546 123546182 123549133 1.22 [{'connected_gene': 'GC08P123547', 'score': 550.77}, {'connected_gene': 'LOC105375738', 'score': 10.46}, {'connected_gene': 'ANXA13', 'score': 10.19}, {'connected_gene': 'KLHL38', 'score': 9.95}, {'connected_gene': 'WDYHV1', 'score': 9.76}, {'connected_gene': 'ATAD2', 'score': 9.76}, {'connected_gene': 'ENSG00000254113', 'score': 0.34}]

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