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
ENST00000524622 [[55341801, 55344174], [55354951, 55355051], [55356214, 55357026], [55357525, 55357734], [55359836, 55359935], [55360171, 55360208], [55360966, 55361020], [55361626, 55361676], [55367260, 55367714]] [[55354952, 55355051], [55356214, 55357026], [55357525, 55357734], [55359836, 55359868]]
ENST00000524923 [[55343734, 55344174], [55354951, 55355051], [55356214, 55357022], [55357568, 55357734], [55359836, 55359935], [55360171, 55360208], [55360966, 55361020], [55361626, 55361676], [55367260, 55367367]] [[55357016, 55357022], [55357568, 55357734], [55359836, 55359868]]
ENST00000528240 [[55343861, 55344174], [55356214, 55356481]] [[55343991, 55344174], [55356214, 55356481]]
ENST00000532804 [[55343863, 55344174], [55354951, 55355051], [55356214, 55357026], [55357525, 55357734], [55359836, 55359935], [55360171, 55360208], [55360966, 55361020], [55361626, 55361797], [55367260, 55367467]] [[55354952, 55355051], [55356214, 55357026], [55357525, 55357734], [55359836, 55359868]]
ENST00000449076 [[55343864, 55344174], [55354951, 55355051], [55356214, 55357026], [55357525, 55357734], [55359836, 55359935], [55360171, 55360208], [55360966, 55361020], [55361626, 55361676], [55367260, 55367303], [55368183, 55368391], [55378368, 55378456]] [[55354952, 55355051], [55356214, 55357026], [55357525, 55357734], [55359836, 55359935], [55360171, 55360208], [55360966, 55361020], [55361626, 55361676], [55367260, 55367303], [55368183, 55368346]]
ENST00000316577 [[55343953, 55344174], [55354951, 55355051], [55356214, 55357026], [55357525, 55357734], [55359836, 55359935], [55360171, 55360208], [55360966, 55361020], [55361626, 55361676], [55367260, 55367303], [55368183, 55368391], [55375557, 55375622]] [[55354952, 55355051], [55356214, 55357026], [55357525, 55357734], [55359836, 55359935], [55360171, 55360208], [55360966, 55361020], [55361626, 55361676], [55367260, 55367303], [55368183, 55368346]]
ENST00000532757 [[55344113, 55344174], [55357525, 55357734], [55359836, 55359935], [55360171, 55360208], [55360966, 55361020], [55361626, 55361676], [55367260, 55367342]] [[55344113, 55344174], [55357525, 55357734], [55359836, 55359868]]
ENST00000531122 [[55344137, 55344174], [55354951, 55355051], [55356214, 55357026], [55357525, 55357734], [55359836, 55359935], [55360171, 55360208], [55360966, 55361020], [55361626, 55361676], [55367260, 55367303], [55367394, 55367470]] [[55354952, 55355051], [55356214, 55357026], [55357525, 55357734], [55359836, 55359868]]
ENST00000524959 [[55356926, 55357026], [55357525, 55357734], [55360171, 55360208], [55360966, 55361020], [55361626, 55361676], [55367260, 55367386]] None
ENST00000526532 [[55357524, 55357734], [55359836, 55359935], [55360171, 55360208], [55360966, 55361020], [55361626, 55361730], [55367260, 55367338]] [[55357524, 55357734], [55359836, 55359868]]
ENST00000533446 [[55357584, 55357734], [55359836, 55359935], [55360171, 55360208], [55360966, 55361020], [55361626, 55361676], [55367260, 55367319], [55367394, 55367507]] [[55357584, 55357734], [55359836, 55359868]]
ENST00000525978 [[55357642, 55357734], [55359836, 55359935], [55360171, 55360208], [55360966, 55361020], [55361626, 55361797], [55367260, 55367303], [55368183, 55368342]] [[55361757, 55361797], [55367260, 55367303], [55368183, 55368342]]
ENST00000524668 [[55361636, 55361676], [55367260, 55367303], [55368183, 55368391], [55375557, 55375729], [55377777, 55377950], [55378368, 55378515]] [[55361636, 55361676], [55367260, 55367303], [55368183, 55368346]]
ENST00000533607 [[55368203, 55368391], [55377777, 55377950], [55378368, 55378530]] [[55368203, 55368346]]
NM_014796 [[55342086, 55344174], [55354951, 55355051], [55356214, 55357026], [55357525, 55357734], [55359836, 55359935], [55360171, 55360208], [55360966, 55361020], [55361626, 55361676], [55367260, 55367516]] [[55354952, 55355051], [55356214, 55357026], [55357525, 55357734], [55359836, 55359868]]
NM_001261844 [[55342086, 55344174], [55354951, 55355051], [55356214, 55357026], [55357525, 55357734], [55359836, 55359935], [55360171, 55360208], [55360966, 55361020], [55361626, 55361676], [55367260, 55367303], [55367394, 55367516]] [[55354952, 55355051], [55356214, 55357026], [55357525, 55357734], [55359836, 55359868]]
NM_001098815 [[55342086, 55344174], [55354951, 55355051], [55356214, 55357026], [55357525, 55357734], [55359836, 55359935], [55360171, 55360208], [55360966, 55361020], [55361626, 55361676], [55367260, 55367303], [55368183, 55368391], [55375557, 55375622]] [[55354952, 55355051], [55356214, 55357026], [55357525, 55357734], [55359836, 55359935], [55360171, 55360208], [55360966, 55361020], [55361626, 55361676], [55367260, 55367303], [55368183, 55368346]]
NM_001136030 [[55342086, 55344174], [55354951, 55355051], [55356214, 55357026], [55357525, 55357734], [55359836, 55359935], [55360171, 55360208], [55360966, 55361020], [55361626, 55361676], [55367260, 55367303], [55368183, 55368391], [55378368, 55378530]] [[55354952, 55355051], [55356214, 55357026], [55357525, 55357734], [55359836, 55359935], [55360171, 55360208], [55360966, 55361020], [55361626, 55361676], [55367260, 55367303], [55368183, 55368346]]
Promoter
Chrom Start End Description
chr12 55367331 55367353 CAGE_peak_2_at_KIAA0748_5end
chr12 55367361 55367372 CAGE_peak_3_at_KIAA0748_5end
chr12 55375673 55375685 CAGE_peak_9_at_KIAA0748_5end
chr12 55375694 55375706 CAGE_peak_12_at_KIAA0748_5end
chr12 55375708 55375721 CAGE_peak_7_at_KIAA0748_5end
chr12 55375723 55375730 CAGE_peak_20_at_KIAA0748_5end
chr12 55375741 55375747 CAGE_peak_19_at_KIAA0748_5end
chr12 55378452 55378458 CAGE_peak_8_at_KIAA0748_5end
chr12 55378459 55378469 CAGE_peak_4_at_KIAA0748_5end
chr12 55378470 55378554 CAGE_peak_1_at_KIAA0748_5end
chr12 55378929 55378942 CAGE_peak_6_at_KIAA0748_5end
chr12 55378964 55378978 CAGE_peak_5_at_KIAA0748_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I054932 54932494 54938054 1.54 [{'connected_gene': 'TESPA1', 'score': 10.88}, {'connected_gene': 'NEUROD4', 'score': 9.9}, {'connected_gene': 'MUCL1', 'score': 5.01}, {'connected_gene': 'NCKAP1L', 'score': 1.89}, {'connected_gene': 'OR6C65', 'score': 1.44}, {'connected_gene': 'OR6C3', 'score': 1.17}, {'connected_gene': 'LOC105369778', 'score': 0.39}, {'connected_gene': 'GC12P054906', 'score': 0.31}]
chr12 GH12I054976 54976654 54986541 2.04 [{'connected_gene': 'TESPA1', 'score': 583.28}, {'connected_gene': 'NEUROD4', 'score': 10.28}, {'connected_gene': 'DCD', 'score': 1.51}, {'connected_gene': 'GC12M054982', 'score': 0.37}, {'connected_gene': 'GC12P054960', 'score': 0.34}]
chr12 GH12I054970 54970797 54971028 0.42 [{'connected_gene': 'TESPA1', 'score': 5.42}, {'connected_gene': 'PDE1B', 'score': 3.23}, {'connected_gene': 'OR6C3', 'score': 2.28}, {'connected_gene': 'GC12P054960', 'score': 0.39}]
chr12 GH12I054955 54955736 54957641 0.77 [{'connected_gene': 'TESPA1', 'score': 37.23}, {'connected_gene': 'NCKAP1L', 'score': 1.63}, {'connected_gene': 'GC12P054960', 'score': 0.77}, {'connected_gene': 'LOC105369778', 'score': 0.39}]
chr12 GH12I054740 54740309 54742655 0.2 [{'connected_gene': 'TESPA1', 'score': 10.54}, {'connected_gene': 'MUCL1', 'score': 8.14}, {'connected_gene': 'GC12M054691', 'score': 0.37}, {'connected_gene': 'ENSG00000257634', 'score': 0.22}]
chr12 GH12I054959 54958157 54958326 0.83 [{'connected_gene': 'TESPA1', 'score': 11.53}, {'connected_gene': 'GC12P054960', 'score': 0.77}, {'connected_gene': 'LOC105369778', 'score': 0.39}]
chr12 GH12I054947 54947877 54949311 0.58 [{'connected_gene': 'TESPA1', 'score': 16.02}, {'connected_gene': 'LOC105369778', 'score': 0.77}, {'connected_gene': 'GC12P054960', 'score': 0.39}]
chr12 GH12I054949 54949892 54951079 0.31 [{'connected_gene': 'TESPA1', 'score': 16.73}, {'connected_gene': 'LOC105369778', 'score': 0.77}, {'connected_gene': 'GC12P054960', 'score': 0.44}]
chr12 GH12I055003 55003656 55005023 0.38 [{'connected_gene': 'TESPA1', 'score': 4.47}, {'connected_gene': 'GC12M054982', 'score': 0.77}, {'connected_gene': 'ENSG00000257870', 'score': 0.44}, {'connected_gene': 'GC12P054960', 'score': 0.26}]
chr12 GH12I054971 54971991 54972862 0.2 [{'connected_gene': 'TESPA1', 'score': 7.51}, {'connected_gene': 'GC12P054960', 'score': 0.39}]
chr12 GH12I054973 54973544 54973603 0.7 [{'connected_gene': 'TESPA1', 'score': 550.39}, {'connected_gene': 'GC12P054960', 'score': 0.39}]
chr12 GH12I054974 54973825 54975692 0.38 [{'connected_gene': 'TESPA1', 'score': 8.38}, {'connected_gene': 'GC12P054960', 'score': 0.39}]
chr12 GH12I054990 54990267 54992541 1.37 [{'connected_gene': 'NEUROD4', 'score': 10.32}, {'connected_gene': 'TESPA1', 'score': 5.65}, {'connected_gene': 'NCKAP1L', 'score': 1.45}, {'connected_gene': 'GC12M054982', 'score': 0.44}, {'connected_gene': 'GC12P054960', 'score': 0.29}]
chr12 GH12I055073 55073157 55073306 0.57 [{'connected_gene': 'NEUROD4', 'score': 11.6}, {'connected_gene': 'TESPA1', 'score': 11.08}, {'connected_gene': 'PIR43661', 'score': 0.34}, {'connected_gene': 'OR9K1P', 'score': 0.28}]
chr12 GH12I055074 55074877 55075026 0.2 [{'connected_gene': 'NEUROD4', 'score': 11.59}, {'connected_gene': 'TESPA1', 'score': 11.08}, {'connected_gene': 'PIR43661', 'score': 0.34}, {'connected_gene': 'OR9K1P', 'score': 0.28}]
chr12 GH12I055068 55068557 55068706 0.83 [{'connected_gene': 'NEUROD4', 'score': 11.62}, {'connected_gene': 'TESPA1', 'score': 11.09}, {'connected_gene': 'PIR43661', 'score': 0.37}, {'connected_gene': 'OR9K1P', 'score': 0.26}]
chr12 GH12I055072 55072217 55072366 0.72 [{'connected_gene': 'NEUROD4', 'score': 11.6}, {'connected_gene': 'TESPA1', 'score': 11.08}, {'connected_gene': 'PIR43661', 'score': 0.34}, {'connected_gene': 'OR9K1P', 'score': 0.26}]
chr12 GH12I054991 54990055 54990199 0.4 [{'connected_gene': 'NEUROD4', 'score': 10.32}, {'connected_gene': 'TESPA1', 'score': 6.17}, {'connected_gene': 'GC12M054982', 'score': 0.39}, {'connected_gene': 'GC12P054960', 'score': 0.31}]
chr12 GH12I054966 54966644 54969021 0.58 [{'connected_gene': 'NEUROD4', 'score': 10.04}, {'connected_gene': 'TESPA1', 'score': 6.28}, {'connected_gene': 'GC12P054960', 'score': 0.44}]
chr12 GH12I054964 54964002 54965228 0.2 [{'connected_gene': 'NEUROD4', 'score': 10.03}, {'connected_gene': 'TESPA1', 'score': 6.25}, {'connected_gene': 'GC12P054960', 'score': 0.77}]
chr12 GH12I054993 54993337 54993486 0.86 [{'connected_gene': 'NEUROD4', 'score': 10.96}, {'connected_gene': 'GC12M054982', 'score': 0.44}, {'connected_gene': 'TESPA1', 'score': 0.44}, {'connected_gene': 'GC12P054960', 'score': 0.29}]
chr12 GH12I054857 54857489 54857698 0.23 [{'connected_gene': 'GPR84', 'score': 27.13}, {'connected_gene': 'TESPA1', 'score': 10.22}, {'connected_gene': 'ZNF385A', 'score': 6.76}, {'connected_gene': 'ITGA5', 'score': 2.92}, {'connected_gene': 'NCKAP1L', 'score': 2.62}, {'connected_gene': 'GC12P054861', 'score': 0.77}, {'connected_gene': 'MUCL1', 'score': 0.31}]
chr12 GH12I054987 54987579 54989859 1.3 [{'connected_gene': 'CDK2', 'score': 24.31}, {'connected_gene': 'MMP19', 'score': 21.56}, {'connected_gene': 'DNAJC14', 'score': 19.58}, {'connected_gene': 'ENSG00000258086', 'score': 13.52}, {'connected_gene': 'HOXC5', 'score': 12.54}, {'connected_gene': 'ENSG00000258344', 'score': 12.28}, {'connected_gene': 'LOC100131294', 'score': 11.07}, {'connected_gene': 'HOXC8', 'score': 10.81}, {'connected_gene': 'TMEM198B', 'score': 10.68}, {'connected_gene': 'HNRNPA1', 'score': 10.36}, {'connected_gene': 'NEUROD4', 'score': 10.3}, {'connected_gene': 'HOXC4', 'score': 10.23}, {'connected_gene': 'HOXC9', 'score': 10.16}, {'connected_gene': 'ITGA5', 'score': 10.06}, {'connected_gene': 'TESPA1', 'score': 6.41}, {'connected_gene': 'GC12M054982', 'score': 0.39}, {'connected_gene': 'GC12P054960', 'score': 0.31}]
chr12 GH12I054958 54958575 54960545 0.65 [{'connected_gene': 'GC12P054960', 'score': 550.77}, {'connected_gene': 'TESPA1', 'score': 17.87}, {'connected_gene': 'LOC105369778', 'score': 0.39}]
chr12 GH12I055006 55006833 55012346 0.31 [{'connected_gene': 'ENSG00000257870', 'score': 550.77}, {'connected_gene': 'TESPA1', 'score': 6.04}, {'connected_gene': 'GC12M054982', 'score': 0.44}, {'connected_gene': 'GC12P054960', 'score': 0.25}]
chr12 GH12I055000 55000839 55002153 0.43 [{'connected_gene': 'GC12M054982', 'score': 550.77}, {'connected_gene': 'TESPA1', 'score': 5.35}, {'connected_gene': 'ENSG00000257870', 'score': 0.44}, {'connected_gene': 'GC12P054960', 'score': 0.26}]
chr12 GH12I054960 54960758 54962920 0.2 [{'connected_gene': 'GC12P054960', 'score': 550.77}, {'connected_gene': 'TESPA1', 'score': 17.28}]
chr12 GH12I054997 54997579 54998883 0.58 [{'connected_gene': 'GC12M054982', 'score': 550.77}, {'connected_gene': 'NEUROD4', 'score': 12.06}, {'connected_gene': 'METTL7B', 'score': 6.05}, {'connected_gene': 'TESPA1', 'score': 4.72}, {'connected_gene': 'GC12P054960', 'score': 0.28}]

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