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
ENST00000301395 [[4460221, 4462352], [4462852, 4463055], [4463676, 4463876]] [[4461309, 4462352], [4462852, 4463055], [4463676, 4463816]]
ENST00000574154 [[4460606, 4462352], [4462637, 4462733], [4462852, 4463055], [4463676, 4464113]] [[4461309, 4462352], [4462637, 4462733], [4462852, 4463055], [4463676, 4463816]]
ENST00000381550 [[4460719, 4462352], [4462637, 4462751], [4462852, 4463055], [4463676, 4463871]] [[4461309, 4462352], [4462637, 4462751], [4462852, 4463055], [4463676, 4463816]]
ENST00000573591 [[4461114, 4462352], [4462637, 4462751], [4462852, 4463230]] [[4461309, 4462347]]
ENST00000574584 [[4461661, 4461762], [4462637, 4462733], [4462852, 4463055], [4463676, 4463859]] [[4461661, 4461762], [4462637, 4462733], [4462852, 4463055], [4463676, 4463816]]
ENST00000575573 [[4462682, 4463055], [4463676, 4463859]] None
NM_001288702 [[4460221, 4462352], [4462637, 4462751], [4462852, 4463055], [4463676, 4463891]] [[4461309, 4462352], [4462637, 4462751], [4462852, 4463055], [4463676, 4463816]]
NM_001122890 [[4460221, 4462352], [4462637, 4462733], [4462852, 4463055], [4463676, 4463891]] [[4461309, 4462352], [4462637, 4462733], [4462852, 4463055], [4463676, 4463816]]
NM_001288703 [[4460221, 4461762], [4462637, 4462733], [4462852, 4463055], [4463676, 4463891]] [[4461604, 4461762], [4462637, 4462733], [4462852, 4463055], [4463676, 4463816]]
NM_153338 [[4460221, 4462352], [4462852, 4463055], [4463676, 4463891]] [[4461309, 4462352], [4462852, 4463055], [4463676, 4463816]]
NM_001288704 [[4460221, 4461762], [4462852, 4463055], [4463676, 4463891]] [[4461604, 4461762], [4462852, 4463055], [4463676, 4463816]]
Promoter
Chrom Start End Description
chr17 4463856 4463896 CAGE_peak_1_at_GGT6_5end
chr17 4464081 4464091 CAGE_peak_3_at_GGT6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I004583 4583432 4589752 2.07 [{'connected_gene': 'SMTNL2', 'score': 567.91}, {'connected_gene': 'GGT6', 'score': 19.65}, {'connected_gene': 'RNU6-955P', 'score': 12.79}, {'connected_gene': 'ALOX15', 'score': 12.45}, {'connected_gene': 'SHPK', 'score': 11.62}, {'connected_gene': 'DERL2', 'score': 10.37}, {'connected_gene': 'VMO1', 'score': 5.21}, {'connected_gene': 'LINC01996', 'score': 0.34}]
chr17 GH17I004590 4590110 4594365 0.69 [{'connected_gene': 'SMTNL2', 'score': 15.42}, {'connected_gene': 'RNU6-955P', 'score': 12.81}, {'connected_gene': 'ALOX15', 'score': 12.46}, {'connected_gene': 'GGT6', 'score': 11.18}, {'connected_gene': 'LINC01996', 'score': 0.37}]
chr17 GH17I004194 4194874 4196620 0.58 [{'connected_gene': 'ZZEF1', 'score': 21.02}, {'connected_gene': 'CYB5D2', 'score': 11.26}, {'connected_gene': 'ANKFY1', 'score': 11.14}, {'connected_gene': 'GGT6', 'score': 9.98}, {'connected_gene': 'GC17P004192', 'score': 0.77}, {'connected_gene': 'LOC100420060', 'score': 0.44}]
chr17 GH17I004527 4527147 4527276 0.42 [{'connected_gene': 'SPNS2', 'score': 12.03}, {'connected_gene': 'ENSG00000229782', 'score': 12.03}, {'connected_gene': 'GGT6', 'score': 11.8}, {'connected_gene': 'ZMYND15', 'score': 2.83}, {'connected_gene': 'C17orf107', 'score': 2.48}, {'connected_gene': 'ARRB2', 'score': 1.43}, {'connected_gene': 'ZZEF1', 'score': 1.42}, {'connected_gene': 'PIR53941', 'score': 0.39}, {'connected_gene': 'GC17P004547', 'score': 0.37}, {'connected_gene': 'PIR35626', 'score': 0.37}]
chr17 GH17I004597 4597603 4601787 1.18 [{'connected_gene': 'GGT6', 'score': 6.77}, {'connected_gene': 'SMTNL2', 'score': 5.86}, {'connected_gene': 'LINC01996', 'score': 5.22}, {'connected_gene': 'ENSG00000262165', 'score': 4.55}]
chr17 GH17I004475 4475174 4484305 1.21 [{'connected_gene': 'GGT6', 'score': 11.03}, {'connected_gene': 'TAX1BP3', 'score': 6.62}, {'connected_gene': 'SPNS3', 'score': 4.6}, {'connected_gene': 'PFN1', 'score': 4.24}, {'connected_gene': 'ENSG00000262823', 'score': 0.44}, {'connected_gene': 'PIR52974', 'score': 0.28}]
chr17 GH17I004533 4533272 4538827 1.2 [{'connected_gene': 'GGT6', 'score': 13.07}, {'connected_gene': 'SPNS2', 'score': 12.24}, {'connected_gene': 'ENSG00000229782', 'score': 12.24}, {'connected_gene': 'MYBBP1A', 'score': 7.26}, {'connected_gene': 'C17orf107', 'score': 4.95}, {'connected_gene': 'KIF1C', 'score': 4.48}, {'connected_gene': 'GC17P004547', 'score': 0.44}, {'connected_gene': 'PIR35626', 'score': 0.44}, {'connected_gene': 'PIR53941', 'score': 0.37}]
chr17 GH17I004507 4507536 4508239 0.65 [{'connected_gene': 'GGT6', 'score': 11.27}, {'connected_gene': 'SPNS2', 'score': 5.7}, {'connected_gene': 'GC17P004510', 'score': 0.77}, {'connected_gene': 'GC17M004505', 'score': 0.77}, {'connected_gene': 'PIR54894', 'score': 0.77}]
chr17 GH17I004489 4489500 4494015 1.33 [{'connected_gene': 'GGT6', 'score': 11.14}, {'connected_gene': 'KIF1C', 'score': 5.6}, {'connected_gene': 'ENSG00000262823', 'score': 5.58}, {'connected_gene': 'SPNS2', 'score': 0.44}]
chr17 GH17I004512 4512822 4516025 0.9 [{'connected_gene': 'GGT6', 'score': 10.88}, {'connected_gene': 'RNU6-955P', 'score': 10.87}, {'connected_gene': 'SPNS2', 'score': 7.74}, {'connected_gene': 'LOC102724009', 'score': 6.93}, {'connected_gene': 'PIR53941', 'score': 0.77}, {'connected_gene': 'GC17P004510', 'score': 0.77}, {'connected_gene': 'GC17P004511', 'score': 0.77}, {'connected_gene': 'GC17P004512', 'score': 0.77}]
chr17 GH17I004559 4559859 4561255 1.09 [{'connected_gene': 'GGT6', 'score': 580.87}, {'connected_gene': 'RNU6-955P', 'score': 11.45}, {'connected_gene': 'MYBBP1A', 'score': 0.77}]
chr17 GH17I004561 4561282 4563057 0.66 [{'connected_gene': 'GGT6', 'score': 565.68}, {'connected_gene': 'GC17M004565', 'score': 550.77}, {'connected_gene': 'PIR54684', 'score': 550.77}, {'connected_gene': 'GC17M004564', 'score': 550.77}]
chr17 GH17I004553 4553789 4556362 2.03 [{'connected_gene': 'MYBBP1A', 'score': 583.33}, {'connected_gene': 'RPAIN', 'score': 24.35}, {'connected_gene': 'ANKFY1', 'score': 23.64}, {'connected_gene': 'LOC100130950', 'score': 22.73}, {'connected_gene': 'DHX33', 'score': 20.93}, {'connected_gene': 'ZNF232', 'score': 19.71}, {'connected_gene': 'LOC101927979', 'score': 17.38}, {'connected_gene': 'GGT6', 'score': 16.3}, {'connected_gene': 'ENSG00000263220', 'score': 15.93}, {'connected_gene': 'ZNF594', 'score': 15.88}, {'connected_gene': 'ENSG00000235085', 'score': 12.43}, {'connected_gene': 'PELP1', 'score': 12.03}, {'connected_gene': 'NUP88', 'score': 11.34}, {'connected_gene': 'LOC105371492', 'score': 10.35}, {'connected_gene': 'ENSG00000263164', 'score': 10.18}, {'connected_gene': 'ENSG00000263272', 'score': 10.04}, {'connected_gene': 'ZZEF1', 'score': 9.88}, {'connected_gene': 'MIS12', 'score': 9.76}, {'connected_gene': 'PIR51445', 'score': 0.44}]
chr17 GH17I004530 4530079 4532054 0.8 [{'connected_gene': 'LOC101927979', 'score': 17.39}, {'connected_gene': 'MYBBP1A', 'score': 15.42}, {'connected_gene': 'ANKFY1', 'score': 14.16}, {'connected_gene': 'GGT6', 'score': 12.22}, {'connected_gene': 'SPNS2', 'score': 12.01}, {'connected_gene': 'ENSG00000229782', 'score': 12.01}, {'connected_gene': 'RPAIN', 'score': 11.54}, {'connected_gene': 'LOC105371492', 'score': 10.35}, {'connected_gene': 'PIR53941', 'score': 0.39}, {'connected_gene': 'GC17P004547', 'score': 0.39}, {'connected_gene': 'PIR35626', 'score': 0.39}]
chr17 GH17I004199 4199946 4200075 0.6 [{'connected_gene': 'LOC100420060', 'score': 550.77}, {'connected_gene': 'CYB5D2', 'score': 11.25}, {'connected_gene': 'ZZEF1', 'score': 11.25}, {'connected_gene': 'ANKFY1', 'score': 11.15}, {'connected_gene': 'GGT6', 'score': 9.98}, {'connected_gene': 'GC17P004192', 'score': 0.44}]
chr17 GH17I004198 4198638 4199673 0.31 [{'connected_gene': 'LOC100420060', 'score': 550.77}, {'connected_gene': 'CYB5D2', 'score': 19.39}, {'connected_gene': 'ZZEF1', 'score': 11.25}, {'connected_gene': 'ANKFY1', 'score': 11.15}, {'connected_gene': 'GGT6', 'score': 9.98}, {'connected_gene': 'GC17P004192', 'score': 0.44}]
chr17 GH17I004594 4594373 4595791 1 [{'connected_gene': 'LOC100130950', 'score': 20.4}, {'connected_gene': 'RPAIN', 'score': 13.94}, {'connected_gene': 'ZNF594', 'score': 13.02}, {'connected_gene': 'RNU6-955P', 'score': 12.84}, {'connected_gene': 'ENSG00000263272', 'score': 12.55}, {'connected_gene': 'ALOX15', 'score': 12.47}, {'connected_gene': 'GGT6', 'score': 11.18}, {'connected_gene': 'ZNF232', 'score': 10.63}, {'connected_gene': 'PELP1', 'score': 10.33}, {'connected_gene': 'ENSG00000263164', 'score': 10.02}, {'connected_gene': 'SMTNL2', 'score': 6.61}, {'connected_gene': 'LINC01996', 'score': 0.37}]
chr17 GH17I004518 4518570 4523223 1.07 [{'connected_gene': 'ENSG00000263220', 'score': 18.07}, {'connected_gene': 'ZNF594', 'score': 13.48}, {'connected_gene': 'GGT6', 'score': 12.09}, {'connected_gene': 'RNU6-955P', 'score': 10.84}, {'connected_gene': 'DHX33', 'score': 10.66}, {'connected_gene': 'RPAIN', 'score': 10.64}, {'connected_gene': 'ENSG00000235085', 'score': 10.53}, {'connected_gene': 'ENSG00000262165', 'score': 10.51}, {'connected_gene': 'SPNS2', 'score': 6.9}, {'connected_gene': 'PIR53941', 'score': 0.77}, {'connected_gene': 'GC17P004511', 'score': 0.44}, {'connected_gene': 'GC17P004510', 'score': 0.39}, {'connected_gene': 'GC17P004512', 'score': 0.39}, {'connected_gene': 'GC17P004547', 'score': 0.31}, {'connected_gene': 'PIR35626', 'score': 0.31}]
chr17 GH17I004724 4724802 4726800 0.76 [{'connected_gene': 'GC17P004725', 'score': 550.77}, {'connected_gene': 'CXCL16', 'score': 21.8}, {'connected_gene': 'MINK1', 'score': 11.02}, {'connected_gene': 'GGT6', 'score': 10.37}, {'connected_gene': 'LOC101928000', 'score': 7.83}, {'connected_gene': 'ZFP3', 'score': 5.73}, {'connected_gene': 'MED11', 'score': 5.07}, {'connected_gene': 'GC17M004721', 'score': 0.77}, {'connected_gene': 'GC17M004714', 'score': 0.77}]
chr17 GH17I004727 4727666 4728864 1.08 [{'connected_gene': 'GC17M004714', 'score': 550.77}, {'connected_gene': 'MINK1', 'score': 13.01}, {'connected_gene': 'GGT6', 'score': 10.76}, {'connected_gene': 'CXCL16', 'score': 10.04}, {'connected_gene': 'ZMYND15', 'score': 5.98}, {'connected_gene': 'ARRB2', 'score': 5.24}, {'connected_gene': 'C17orf107', 'score': 1.91}, {'connected_gene': 'GC17P004725', 'score': 0.77}]
chr17 GH17I004720 4720567 4722495 1.25 [{'connected_gene': 'GC17M004721', 'score': 550.77}, {'connected_gene': 'ARRB2', 'score': 15.28}, {'connected_gene': 'PLD2', 'score': 12.01}, {'connected_gene': 'MINK1', 'score': 11.98}, {'connected_gene': 'ALOX15', 'score': 10.83}, {'connected_gene': 'GGT6', 'score': 9.98}, {'connected_gene': 'ZFP3', 'score': 5.16}, {'connected_gene': 'GC17M004714', 'score': 0.44}]
chr17 GH17I004523 4523410 4524758 0.46 [{'connected_gene': 'ENSG00000229782', 'score': 12.06}, {'connected_gene': 'SPNS2', 'score': 12.03}, {'connected_gene': 'GGT6', 'score': 11.9}, {'connected_gene': 'RNU6-955P', 'score': 11.2}, {'connected_gene': 'LOC102724009', 'score': 5.09}, {'connected_gene': 'PIR53941', 'score': 0.44}, {'connected_gene': 'GC17P004510', 'score': 0.39}, {'connected_gene': 'GC17P004511', 'score': 0.39}, {'connected_gene': 'GC17P004512', 'score': 0.39}, {'connected_gene': 'GC17P004547', 'score': 0.34}, {'connected_gene': 'PIR35626', 'score': 0.34}]
chr17 GH17I004485 4485601 4487000 0.6 [{'connected_gene': 'ENSG00000262823', 'score': 550.77}, {'connected_gene': 'GGT6', 'score': 11.13}, {'connected_gene': 'PIR52974', 'score': 0.26}, {'connected_gene': 'SPNS3', 'score': 0.23}]
chr17 GH17I004484 4484598 4484908 0.2 [{'connected_gene': 'ENSG00000262823', 'score': 550.77}, {'connected_gene': 'GGT6', 'score': 11.04}, {'connected_gene': 'PIR52974', 'score': 0.26}, {'connected_gene': 'SPNS3', 'score': 0.23}]
chr17 GH17I004487 4487273 4488575 0.2 [{'connected_gene': 'ENSG00000262823', 'score': 550.77}, {'connected_gene': 'GGT6', 'score': 16.49}, {'connected_gene': 'SPNS2', 'score': 0.39}, {'connected_gene': 'SPNS3', 'score': 0.23}]
chr17 GH17I004516 4516390 4517514 0.51 [{'connected_gene': 'PIR53941', 'score': 550.77}, {'connected_gene': 'GGT6', 'score': 12.08}, {'connected_gene': 'RNU6-955P', 'score': 11.35}, {'connected_gene': 'SPNS2', 'score': 6.96}, {'connected_gene': 'GC17P004510', 'score': 0.44}, {'connected_gene': 'GC17P004511', 'score': 0.44}, {'connected_gene': 'GC17P004512', 'score': 0.44}]
chr17 GH17I004510 4510714 4512100 0.46 [{'connected_gene': 'GC17P004510', 'score': 550.77}, {'connected_gene': 'GC17P004511', 'score': 550.77}, {'connected_gene': 'GC17P004512', 'score': 550.77}, {'connected_gene': 'GGT6', 'score': 10.88}, {'connected_gene': 'RNU6-955P', 'score': 10.87}, {'connected_gene': 'PIR53941', 'score': 0.44}, {'connected_gene': 'SPNS2', 'score': 0.39}]
chr17 GH17I004509 4509006 4510400 0.92 [{'connected_gene': 'GC17P004510', 'score': 550.77}, {'connected_gene': 'GC17P004511', 'score': 550.77}, {'connected_gene': 'GC17P004512', 'score': 550.77}, {'connected_gene': 'GGT6', 'score': 11.27}, {'connected_gene': 'RNU6-955P', 'score': 10.86}, {'connected_gene': 'GC17M004505', 'score': 0.77}, {'connected_gene': 'PIR54894', 'score': 0.77}, {'connected_gene': 'SPNS2', 'score': 0.39}]
chr17 GH17I004563 4563506 4563655 0.67 [{'connected_gene': 'GC17M004565', 'score': 550.77}, {'connected_gene': 'PIR54684', 'score': 550.77}, {'connected_gene': 'GC17M004564', 'score': 550.77}, {'connected_gene': 'GGT6', 'score': 0.77}]
chr17 GH17I004575 4575469 4577881 0.95 [{'connected_gene': 'GC17M004575', 'score': 550.77}, {'connected_gene': 'RNU6-955P', 'score': 12.32}, {'connected_gene': 'ALOX15', 'score': 12.25}, {'connected_gene': 'GGT6', 'score': 9.22}, {'connected_gene': 'SMTNL2', 'score': 6.67}, {'connected_gene': 'LOC101928000', 'score': 4.38}]
chr17 GH17I004648 4648673 4649495 0.81 [{'connected_gene': 'GC17P004648', 'score': 550.77}, {'connected_gene': 'RNU6-955P', 'score': 12.42}, {'connected_gene': 'GGT6', 'score': 11.0}, {'connected_gene': 'MINK1', 'score': 10.74}, {'connected_gene': 'ZFP3', 'score': 4.98}, {'connected_gene': 'LOC105371499', 'score': 0.77}, {'connected_gene': 'GC17P004656', 'score': 0.44}]
chr17 GH17I004517 4517976 4518298 0.31 [{'connected_gene': 'PIR53941', 'score': 550.77}, {'connected_gene': 'MYBBP1A', 'score': 13.9}, {'connected_gene': 'ZNF232', 'score': 12.9}, {'connected_gene': 'DHX33', 'score': 12.16}, {'connected_gene': 'GGT6', 'score': 12.08}, {'connected_gene': 'RPAIN', 'score': 12.01}, {'connected_gene': 'LOC101927979', 'score': 11.5}, {'connected_gene': 'LOC105371492', 'score': 10.02}, {'connected_gene': 'ENSG00000263220', 'score': 9.67}, {'connected_gene': 'SPNS2', 'score': 5.81}, {'connected_gene': 'GC17P004510', 'score': 0.44}, {'connected_gene': 'GC17P004511', 'score': 0.44}, {'connected_gene': 'GC17P004512', 'score': 0.44}, {'connected_gene': 'GC17P004547', 'score': 0.31}, {'connected_gene': 'PIR35626', 'score': 0.31}]
chr17 GH17I004624 4624350 4626195 1.15 [{'connected_gene': 'GC17P004626', 'score': 550.77}, {'connected_gene': 'LOC101927979', 'score': 12.37}, {'connected_gene': 'GGT6', 'score': 11.45}, {'connected_gene': 'ANKFY1', 'score': 10.9}, {'connected_gene': 'ARRB2', 'score': 6.48}, {'connected_gene': 'ENSG00000262165', 'score': 5.6}, {'connected_gene': 'LOC105371498', 'score': 0.77}, {'connected_gene': 'RNU6-955P', 'score': 0.44}]

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