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
ENST00000375918 [[31620192, 31620328], [31624248, 31624403], [31625001, 31625075], [31625156, 31625255], [31625401, 31625859]] [[31624350, 31624403], [31625001, 31625075], [31625156, 31625255], [31625401, 31625565]]
ENST00000375920 [[31620193, 31620328], [31624248, 31624403], [31625001, 31625075], [31625156, 31625255], [31625401, 31625500], [31625840, 31625987]] [[31624350, 31624403], [31625001, 31625075], [31625156, 31625255], [31625401, 31625500], [31625840, 31625866]]
ENST00000375916 [[31623247, 31623857], [31624248, 31624403], [31625001, 31625075], [31625156, 31625255], [31625401, 31625500], [31625840, 31625987]] [[31623743, 31623857], [31624248, 31624403], [31625001, 31625075], [31625156, 31625255], [31625401, 31625500], [31625840, 31625866]]
NM_001256169 [[31620186, 31620328], [31624248, 31624403], [31625001, 31625075], [31625156, 31625255], [31625401, 31625500], [31625840, 31625987]] [[31624350, 31624403], [31625001, 31625075], [31625156, 31625255], [31625401, 31625500], [31625840, 31625866]]
NR_045828 [[31620186, 31620328], [31624248, 31624410], [31625001, 31625075], [31625156, 31625255], [31625401, 31625500], [31625840, 31625987]] None
NM_019101 [[31623670, 31623857], [31624248, 31624403], [31625001, 31625075], [31625156, 31625255], [31625401, 31625500], [31625840, 31625987]] [[31623743, 31623857], [31624248, 31624403], [31625001, 31625075], [31625156, 31625255], [31625401, 31625500], [31625840, 31625866]]
NM_001256169 [[3129805, 3129947], [3133866, 3134021], [3134619, 3134693], [3134774, 3134873], [3135019, 3135118], [3135458, 3135605]] [[3133968, 3134021], [3134619, 3134693], [3134774, 3134873], [3135019, 3135118], [3135458, 3135484]]
NR_045828 [[3129805, 3129947], [3133866, 3134028], [3134619, 3134693], [3134774, 3134873], [3135019, 3135118], [3135458, 3135605]] None
NM_019101 [[3133288, 3133475], [3133866, 3134021], [3134619, 3134693], [3134774, 3134873], [3135019, 3135118], [3135458, 3135605]] [[3133361, 3133475], [3133866, 3134021], [3134619, 3134693], [3134774, 3134873], [3135019, 3135118], [3135458, 3135484]]
NM_001256169 [[2905765, 2905907], [2909827, 2909982], [2910580, 2910654], [2910735, 2910834], [2910980, 2911079], [2911419, 2911566]] [[2909929, 2909982], [2910580, 2910654], [2910735, 2910834], [2910980, 2911079], [2911419, 2911445]]
NR_045828 [[2905765, 2905907], [2909827, 2909989], [2910580, 2910654], [2910735, 2910834], [2910980, 2911079], [2911419, 2911566]] None
NM_019101 [[2909249, 2909436], [2909827, 2909982], [2910580, 2910654], [2910735, 2910834], [2910980, 2911079], [2911419, 2911566]] [[2909322, 2909436], [2909827, 2909982], [2910580, 2910654], [2910735, 2910834], [2910980, 2911079], [2911419, 2911445]]
NM_001256169 [[2999866, 3000008], [3003928, 3004083], [3004681, 3004755], [3004836, 3004935], [3005081, 3005180], [3005520, 3005667]] [[3004030, 3004083], [3004681, 3004755], [3004836, 3004935], [3005081, 3005180], [3005520, 3005546]]
NR_045828 [[2999866, 3000008], [3003928, 3004090], [3004681, 3004755], [3004836, 3004935], [3005081, 3005180], [3005520, 3005667]] None
NM_019101 [[3003350, 3003537], [3003928, 3004083], [3004681, 3004755], [3004836, 3004935], [3005081, 3005180], [3005520, 3005667]] [[3003423, 3003537], [3003928, 3004083], [3004681, 3004755], [3004836, 3004935], [3005081, 3005180], [3005520, 3005546]]
NM_001256169 [[2913824, 2913966], [2917885, 2918040], [2918638, 2918712], [2918793, 2918892], [2919038, 2919137], [2919477, 2919624]] [[2917987, 2918040], [2918638, 2918712], [2918793, 2918892], [2919038, 2919137], [2919477, 2919503]]
NR_045828 [[2913824, 2913966], [2917885, 2918047], [2918638, 2918712], [2918793, 2918892], [2919038, 2919137], [2919477, 2919624]] None
NM_019101 [[2917307, 2917494], [2917885, 2918040], [2918638, 2918712], [2918793, 2918892], [2919038, 2919137], [2919477, 2919624]] [[2917380, 2917494], [2917885, 2918040], [2918638, 2918712], [2918793, 2918892], [2919038, 2919137], [2919477, 2919503]]
NM_001256169 [[2963075, 2963217], [2967137, 2967292], [2967890, 2967964], [2968045, 2968144], [2968290, 2968389], [2968729, 2968876]] [[2967239, 2967292], [2967890, 2967964], [2968045, 2968144], [2968290, 2968389], [2968729, 2968755]]
NR_045828 [[2963075, 2963217], [2967137, 2967299], [2967890, 2967964], [2968045, 2968144], [2968290, 2968389], [2968729, 2968876]] None
NM_019101 [[2966559, 2966746], [2967137, 2967292], [2967890, 2967964], [2968045, 2968144], [2968290, 2968389], [2968729, 2968876]] [[2966632, 2966746], [2967137, 2967292], [2967890, 2967964], [2968045, 2968144], [2968290, 2968389], [2968729, 2968755]]
NM_001256169 [[2950985, 2951127], [2955046, 2955201], [2955799, 2955873], [2955954, 2956053], [2956199, 2956298], [2956638, 2956785]] [[2955148, 2955201], [2955799, 2955873], [2955954, 2956053], [2956199, 2956298], [2956638, 2956664]]
NR_045828 [[2950985, 2951127], [2955046, 2955208], [2955799, 2955873], [2955954, 2956053], [2956199, 2956298], [2956638, 2956785]] None
NM_019101 [[2954468, 2954655], [2955046, 2955201], [2955799, 2955873], [2955954, 2956053], [2956199, 2956298], [2956638, 2956785]] [[2954541, 2954655], [2955046, 2955201], [2955799, 2955873], [2955954, 2956053], [2956199, 2956298], [2956638, 2956664]]
Promoter
Chrom Start End Description
chr6 31619827 31619857 CAGE_peak_2_at_APOM_5end
chr6 31620000 31620025 CAGE_peak_6_at_APOM_5end
chr6 31620174 31620188 CAGE_peak_3_at_APOM_5end
chr6 31620191 31620238 CAGE_peak_1_at_APOM_5end
chr6 31620250 31620259 CAGE_peak_10_at_APOM_5end
chr6 31623665 31623677 CAGE_peak_4_at_APOM_5end
chr6 31623683 31623698 CAGE_peak_5_at_APOM_5end
chr6 31623700 31623709 CAGE_peak_8_at_APOM_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I031650 31650797 31654133 2.14 [{'connected_gene': 'BAG6', 'score': 599.71}, {'connected_gene': 'APOM', 'score': 550.77}, {'connected_gene': 'ATF6B', 'score': 87.6}, {'connected_gene': 'DDX39B', 'score': 83.5}, {'connected_gene': 'LY6G5B', 'score': 72.36}, {'connected_gene': 'MDC1', 'score': 64.51}, {'connected_gene': 'LSM2', 'score': 63.54}, {'connected_gene': 'DHX16', 'score': 56.7}, {'connected_gene': 'PBX2', 'score': 47.96}, {'connected_gene': 'NRM', 'score': 45.23}, {'connected_gene': 'CSNK2B', 'score': 43.72}, {'connected_gene': 'MSH5', 'score': 43.67}, {'connected_gene': 'SKIV2L', 'score': 42.74}, {'connected_gene': 'GPANK1', 'score': 38.0}, {'connected_gene': 'GTF2H4', 'score': 37.87}, {'connected_gene': 'TCF19', 'score': 31.95}, {'connected_gene': 'NFKBIL1', 'score': 31.55}, {'connected_gene': 'MICA', 'score': 29.69}, {'connected_gene': 'LY6G5C', 'score': 28.35}, {'connected_gene': 'ENSG00000272540', 'score': 28.32}, {'connected_gene': 'DXO', 'score': 27.35}, {'connected_gene': 'C6orf47', 'score': 23.13}, {'connected_gene': 'RPL3P2', 'score': 21.2}, {'connected_gene': 'CCHCR1', 'score': 19.53}, {'connected_gene': 'C4A', 'score': 18.69}, {'connected_gene': 'PPT2', 'score': 18.16}, {'connected_gene': 'HLA-DRB1', 'score': 17.7}, {'connected_gene': 'VARS', 'score': 12.73}, {'connected_gene': 'NELFE', 'score': 12.06}, {'connected_gene': 'ZBTB12', 'score': 12.01}, {'connected_gene': 'SAPCD1', 'score': 11.39}, {'connected_gene': 'EHMT2', 'score': 11.0}, {'connected_gene': 'STK19', 'score': 10.46}, {'connected_gene': 'LTB', 'score': 10.31}, {'connected_gene': 'TNXB', 'score': 10.24}, {'connected_gene': 'FKBPL', 'score': 9.91}, {'connected_gene': 'MICB', 'score': 9.27}, {'connected_gene': 'C6orf47-AS1', 'score': 0.44}]
chr6 GH06I031654 31654479 31656254 0.95 [{'connected_gene': 'BAG6', 'score': 22.48}, {'connected_gene': 'MICB', 'score': 9.78}, {'connected_gene': 'LY6G5B', 'score': 5.89}, {'connected_gene': 'MICA-AS1', 'score': 5.66}, {'connected_gene': 'C6orf47-AS1', 'score': 0.77}, {'connected_gene': 'APOM', 'score': 0.77}]
chr6 GH06I031658 31658166 31662109 2.24 [{'connected_gene': 'BAG6', 'score': 565.91}, {'connected_gene': 'C6orf47-AS1', 'score': 550.77}, {'connected_gene': 'C6orf47', 'score': 550.77}, {'connected_gene': 'LY6G5C', 'score': 46.34}, {'connected_gene': 'C4A', 'score': 20.47}, {'connected_gene': 'LY6G5B', 'score': 13.55}, {'connected_gene': 'MICB', 'score': 10.18}, {'connected_gene': 'STK19B', 'score': 9.83}, {'connected_gene': 'VWA7', 'score': 8.63}, {'connected_gene': 'CYP21A1P', 'score': 7.23}, {'connected_gene': 'AIF1', 'score': 5.9}, {'connected_gene': 'MICA-AS1', 'score': 5.66}, {'connected_gene': 'AGER', 'score': 5.04}, {'connected_gene': 'APOM', 'score': 0.44}, {'connected_gene': 'GPANK1', 'score': 0.44}]
chr6 GH06I031567 31567298 31589539 2.76 [{'connected_gene': 'TNF', 'score': 637.63}, {'connected_gene': 'LST1', 'score': 556.56}, {'connected_gene': 'GC06P032075', 'score': 550.77}, {'connected_gene': 'GC06P031961', 'score': 550.77}, {'connected_gene': 'GC06P031586', 'score': 550.77}, {'connected_gene': 'GC06P031681', 'score': 550.77}, {'connected_gene': 'GC06P031613', 'score': 550.77}, {'connected_gene': 'GC06P031587', 'score': 550.77}, {'connected_gene': 'GC06P032071', 'score': 550.77}, {'connected_gene': 'GC06P031994', 'score': 550.77}, {'connected_gene': 'GC06P031598', 'score': 550.77}, {'connected_gene': 'GC06P031618', 'score': 550.77}, {'connected_gene': 'GC06P031616', 'score': 550.77}, {'connected_gene': 'GC06P031772', 'score': 550.77}, {'connected_gene': 'GC06P031585', 'score': 550.77}, {'connected_gene': 'GC06P031612', 'score': 550.77}, {'connected_gene': 'GC06P031599', 'score': 550.77}, {'connected_gene': 'LTB', 'score': 550.77}, {'connected_gene': 'GC06P031751', 'score': 550.77}, {'connected_gene': 'GC06P031932', 'score': 550.77}, {'connected_gene': 'LTA', 'score': 550.37}, {'connected_gene': 'DDX39B', 'score': 68.7}, {'connected_gene': 'LY6G5B', 'score': 36.47}, {'connected_gene': 'ATF6B', 'score': 26.5}, {'connected_gene': 'RPL3P2', 'score': 22.93}, {'connected_gene': 'LSM2', 'score': 22.86}, {'connected_gene': 'MICB', 'score': 22.2}, {'connected_gene': 'PPT2', 'score': 21.87}, {'connected_gene': 'C6orf47', 'score': 21.49}, {'connected_gene': 'NFKBIL1', 'score': 21.45}, {'connected_gene': 'TNXB', 'score': 21.17}, {'connected_gene': 'TCF19', 'score': 20.91}, {'connected_gene': 'MICA', 'score': 20.26}, {'connected_gene': 'MDC1', 'score': 20.16}, {'connected_gene': 'HLA-C', 'score': 17.48}, {'connected_gene': 'PPP1R10', 'score': 13.47}, {'connected_gene': 'ATP6V1G2', 'score': 13.13}, {'connected_gene': 'DHX16', 'score': 13.11}, {'connected_gene': 'UQCRHP1', 'score': 13.07}, {'connected_gene': 'SKIV2L', 'score': 13.06}, {'connected_gene': 'AIF1', 'score': 13.05}, {'connected_gene': 'DDX39B-AS1', 'score': 11.92}, {'connected_gene': 'SNORD117', 'score': 11.46}, {'connected_gene': 'APOM', 'score': 11.07}, {'connected_gene': 'ENSG00000201207', 'score': 11.05}, {'connected_gene': 'BAG6', 'score': 11.05}, {'connected_gene': 'MCCD1', 'score': 11.03}, {'connected_gene': 'RPL15P4', 'score': 11.02}, {'connected_gene': 'PPIAP9', 'score': 11.01}, {'connected_gene': 'PBX2', 'score': 10.75}, {'connected_gene': 'NRM', 'score': 10.62}, {'connected_gene': 'ENSG00000199332', 'score': 10.28}, {'connected_gene': 'EGFL8', 'score': 10.23}, {'connected_gene': 'ATAT1', 'score': 10.22}, {'connected_gene': 'GPANK1', 'score': 10.15}, {'connected_gene': 'CSNK2B', 'score': 10.15}, {'connected_gene': 'C4A', 'score': 10.04}, {'connected_gene': 'MICA-AS1', 'score': 7.51}, {'connected_gene': 'POU5F1', 'score': 6.34}, {'connected_gene': 'ENSG00000271581', 'score': 5.55}, {'connected_gene': 'HCG23', 'score': 5.43}, {'connected_gene': 'CYP21A2', 'score': 5.39}, {'connected_gene': 'AGER', 'score': 5.36}, {'connected_gene': 'HLA-B', 'score': 4.94}, {'connected_gene': 'HCP5', 'score': 4.17}, {'connected_gene': 'ENSG00000272501', 'score': 4.03}, {'connected_gene': 'STK19', 'score': 2.0}, {'connected_gene': 'NEU1', 'score': 1.54}, {'connected_gene': 'HSPA1B', 'score': 1.45}, {'connected_gene': 'CLIC1', 'score': 1.37}, {'connected_gene': 'HSPA1A', 'score': 1.34}, {'connected_gene': 'LOC100287329', 'score': 0.44}, {'connected_gene': 'NCR3', 'score': 0.39}]
chr6 GH06I031614 31614001 31617667 1.56 [{'connected_gene': 'AIF1', 'score': 550.77}, {'connected_gene': 'BAG6', 'score': 35.53}, {'connected_gene': 'LY6G5B', 'score': 24.57}, {'connected_gene': 'HLA-DRB1', 'score': 17.7}, {'connected_gene': 'SKIV2L', 'score': 14.57}, {'connected_gene': 'LY6G5C', 'score': 14.39}, {'connected_gene': 'LST1', 'score': 12.46}, {'connected_gene': 'LTB', 'score': 12.44}, {'connected_gene': 'C4A', 'score': 12.3}, {'connected_gene': 'DDX39B-AS1', 'score': 11.79}, {'connected_gene': 'DDX39B', 'score': 11.79}, {'connected_gene': 'C6orf47', 'score': 11.46}, {'connected_gene': 'ENSG00000201207', 'score': 11.44}, {'connected_gene': 'CSNK2B', 'score': 11.44}, {'connected_gene': 'GPANK1', 'score': 11.43}, {'connected_gene': 'APOM', 'score': 11.42}, {'connected_gene': 'C6orf47-AS1', 'score': 11.41}, {'connected_gene': 'MICB', 'score': 10.2}, {'connected_gene': 'AGER', 'score': 5.06}, {'connected_gene': 'PRRC2A', 'score': 0.77}]
chr6 GH06I031657 31657336 31657924 0.65 [{'connected_gene': 'C6orf47-AS1', 'score': 550.77}, {'connected_gene': 'LY6G5B', 'score': 8.67}, {'connected_gene': 'BAG6', 'score': 0.77}, {'connected_gene': 'APOM', 'score': 0.44}]

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