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
ENST00000335999 [[50184928, 50185834], [50186228, 50186371], [50186460, 50186769], [50187134, 50187216], [50187516, 50187679], [50188547, 50191177], [50192132, 50192246], [50195630, 50195750], [50196740, 50196779], [50196879, 50196948], [50197704, 50197863], [50199762, 50199824], [50222104, 50222208]] [[50185621, 50185834], [50186228, 50186371], [50186460, 50186769], [50187134, 50187216], [50187516, 50187679], [50188547, 50191177], [50192132, 50192246], [50195630, 50195750], [50196740, 50196779], [50196879, 50196948], [50197704, 50197827]]
ENST00000480927 [[50199720, 50199824], [50222104, 50222533]] None
ENST00000433948 [[50184928, 50186371], [50186460, 50186769], [50187134, 50187216], [50187516, 50187679], [50188547, 50190785]] [[50186150, 50186371], [50186460, 50186769], [50187134, 50187216], [50187516, 50187679], [50188547, 50190785]]
ENST00000477361 [[50196050, 50196779], [50196879, 50196948], [50197704, 50199502]] None
ENST00000491441 [[50196506, 50196948], [50197704, 50199173]] None
NM_001037806 [[50184928, 50185834], [50186228, 50186371], [50186460, 50186769], [50187134, 50187216], [50187516, 50187679], [50188547, 50191177], [50192132, 50192246], [50195630, 50195750], [50196740, 50196779], [50196879, 50196948], [50197704, 50197863], [50199762, 50199824], [50222104, 50222208]] [[50185621, 50185834], [50186228, 50186371], [50186460, 50186769], [50187134, 50187216], [50187516, 50187679], [50188547, 50191177], [50192132, 50192246], [50195630, 50195750], [50196740, 50196779], [50196879, 50196948], [50197704, 50197827]]
Promoter
Chrom Start End Description
chr12 50191313 50191325 CAGE_peak_14_at_NCKAP5L_5end
chr12 50222179 50222182 CAGE_peak_2_at_NCKAP5L_5end
chr12 50222187 50222203 CAGE_peak_1_at_NCKAP5L_5end
chr12 50222812 50222817 CAGE_peak_7_at_NCKAP5L_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I049702 49702155 49708207 2.52 [{'connected_gene': 'FMNL3', 'score': 564.91}, {'connected_gene': 'FAM186B', 'score': 31.49}, {'connected_gene': 'DDX23', 'score': 31.12}, {'connected_gene': 'CCNT1', 'score': 24.96}, {'connected_gene': 'LOC390314', 'score': 24.65}, {'connected_gene': 'LMBR1L', 'score': 23.17}, {'connected_gene': 'KMT2D', 'score': 21.38}, {'connected_gene': 'LIMA1', 'score': 15.38}, {'connected_gene': 'ENSG00000257964', 'score': 13.22}, {'connected_gene': 'CERS5', 'score': 11.52}, {'connected_gene': 'PRPF40B', 'score': 11.33}, {'connected_gene': 'LOC100422296', 'score': 10.57}, {'connected_gene': 'ENSG00000257298', 'score': 10.47}, {'connected_gene': 'SPATS2', 'score': 6.14}, {'connected_gene': 'TMBIM6', 'score': 5.74}, {'connected_gene': 'MCRS1', 'score': 5.12}, {'connected_gene': 'C1QL4', 'score': 4.44}, {'connected_gene': 'NCKAP5L', 'score': 1.43}, {'connected_gene': 'LOC105369762', 'score': 0.77}, {'connected_gene': 'PIR31660', 'score': 0.22}]
chr12 GH12I049749 49748458 49748607 0.74 [{'connected_gene': 'FMNL3', 'score': 11.06}, {'connected_gene': 'TMBIM6', 'score': 10.66}, {'connected_gene': 'NCKAP5L', 'score': 10.54}, {'connected_gene': 'TUBA1C', 'score': 4.53}, {'connected_gene': 'PIR62478', 'score': 0.44}, {'connected_gene': 'PIR31272', 'score': 0.37}]
chr12 GH12I049669 49669489 49676450 1.64 [{'connected_gene': 'FMNL3', 'score': 21.59}, {'connected_gene': 'TMBIM6', 'score': 13.65}, {'connected_gene': 'NCKAP5L', 'score': 11.28}, {'connected_gene': 'FAM186B', 'score': 10.32}, {'connected_gene': 'RNU6-834P', 'score': 10.3}, {'connected_gene': 'TUBA1C', 'score': 8.01}, {'connected_gene': 'ENSG00000257464', 'score': 7.55}, {'connected_gene': 'SPATS2', 'score': 7.13}, {'connected_gene': 'MCRS1', 'score': 5.51}, {'connected_gene': 'TUBA1A', 'score': 1.58}, {'connected_gene': 'COX14', 'score': 1.3}, {'connected_gene': 'PIR31660', 'score': 0.31}, {'connected_gene': 'LOC105369762', 'score': 0.29}]
chr12 GH12I049676 49676824 49677456 0.31 [{'connected_gene': 'FMNL3', 'score': 11.84}, {'connected_gene': 'TMBIM6', 'score': 11.84}, {'connected_gene': 'NCKAP5L', 'score': 9.28}, {'connected_gene': 'SPATS2', 'score': 6.44}, {'connected_gene': 'PIR31660', 'score': 0.29}, {'connected_gene': 'LOC105369762', 'score': 0.29}]
chr12 GH12I049650 49650107 49654212 0.59 [{'connected_gene': 'FMNL3', 'score': 12.19}, {'connected_gene': 'TMBIM6', 'score': 12.19}, {'connected_gene': 'MCRS1', 'score': 10.43}, {'connected_gene': 'NCKAP5L', 'score': 10.13}, {'connected_gene': 'TUBA1C', 'score': 7.61}, {'connected_gene': 'PIR31660', 'score': 0.44}, {'connected_gene': 'LOC105369762', 'score': 0.22}]
chr12 GH12I049647 49647037 49649574 0.63 [{'connected_gene': 'FMNL3', 'score': 12.48}, {'connected_gene': 'TMBIM6', 'score': 12.48}, {'connected_gene': 'MCRS1', 'score': 10.43}, {'connected_gene': 'NCKAP5L', 'score': 9.62}, {'connected_gene': 'C1QL4', 'score': 5.12}, {'connected_gene': 'PIR31660', 'score': 0.77}, {'connected_gene': 'LOC105369762', 'score': 0.22}]
chr12 GH12I049661 49661309 49666226 1.64 [{'connected_gene': 'FMNL3', 'score': 19.7}, {'connected_gene': 'MCRS1', 'score': 15.59}, {'connected_gene': 'TMBIM6', 'score': 13.05}, {'connected_gene': 'LOC390314', 'score': 11.19}, {'connected_gene': 'SMARCD1', 'score': 10.63}, {'connected_gene': 'LMBR1L', 'score': 10.47}, {'connected_gene': 'KANSL2', 'score': 10.37}, {'connected_gene': 'DDX23', 'score': 10.32}, {'connected_gene': 'KMT2D', 'score': 9.92}, {'connected_gene': 'TUBA1C', 'score': 8.02}, {'connected_gene': 'FKBP11', 'score': 4.57}, {'connected_gene': 'NCKAP5L', 'score': 1.47}, {'connected_gene': 'PIR31660', 'score': 0.37}, {'connected_gene': 'LOC105369762', 'score': 0.26}]
chr12 GH12I049765 49765962 49768060 0.52 [{'connected_gene': 'TMBIM6', 'score': 15.99}, {'connected_gene': 'NCKAP5L', 'score': 11.79}, {'connected_gene': 'FMNL3', 'score': 11.06}, {'connected_gene': 'AQP5', 'score': 10.19}, {'connected_gene': 'AQP6', 'score': 10.19}, {'connected_gene': 'DNAJC22', 'score': 6.68}, {'connected_gene': 'SPATS2', 'score': 5.66}, {'connected_gene': 'PIR31272', 'score': 0.77}, {'connected_gene': 'LSM6P2', 'score': 0.77}]
chr12 GH12I049740 49740753 49745082 2.3 [{'connected_gene': 'TMBIM6', 'score': 566.01}, {'connected_gene': 'PIR62478', 'score': 550.77}, {'connected_gene': 'LMBR1L', 'score': 42.32}, {'connected_gene': 'DDX23', 'score': 40.99}, {'connected_gene': 'KMT2D', 'score': 36.53}, {'connected_gene': 'SMARCD1', 'score': 27.6}, {'connected_gene': 'LOC390314', 'score': 23.33}, {'connected_gene': 'ENSG00000257298', 'score': 20.05}, {'connected_gene': 'BCDIN3D', 'score': 18.35}, {'connected_gene': 'FAM186B', 'score': 17.57}, {'connected_gene': 'LIMA1', 'score': 13.94}, {'connected_gene': 'LOC100422296', 'score': 12.85}, {'connected_gene': 'ENSG00000257964', 'score': 11.58}, {'connected_gene': 'FMNL3', 'score': 11.5}, {'connected_gene': 'MCRS1', 'score': 10.77}, {'connected_gene': 'NCKAP5L', 'score': 10.44}, {'connected_gene': 'ADCY6', 'score': 9.75}, {'connected_gene': 'SPATS2', 'score': 7.33}, {'connected_gene': 'PIR31272', 'score': 0.34}]
chr12 GH12I049748 49748611 49751770 1.33 [{'connected_gene': 'TMBIM6', 'score': 15.9}, {'connected_gene': 'BCDIN3D-AS1', 'score': 15.22}, {'connected_gene': 'SMARCD1', 'score': 13.83}, {'connected_gene': 'LMBR1L', 'score': 13.27}, {'connected_gene': 'FAIM2', 'score': 11.45}, {'connected_gene': 'NCKAP5L', 'score': 11.1}, {'connected_gene': 'FMNL3', 'score': 11.06}, {'connected_gene': 'BCDIN3D', 'score': 10.13}, {'connected_gene': 'DDX23', 'score': 10.01}, {'connected_gene': 'TUBA1C', 'score': 4.53}, {'connected_gene': 'DNAJC22', 'score': 4.51}, {'connected_gene': 'PIR62478', 'score': 0.44}, {'connected_gene': 'PIR31272', 'score': 0.39}]
chr12 GH12I049752 49752971 49754401 0.91 [{'connected_gene': 'NCKAP5L', 'score': 11.1}, {'connected_gene': 'FMNL3', 'score': 10.97}, {'connected_gene': 'TMBIM6', 'score': 10.9}, {'connected_gene': 'SPATS2', 'score': 6.13}, {'connected_gene': 'PIR62478', 'score': 0.39}, {'connected_gene': 'PIR31272', 'score': 0.39}]
chr12 GH12I049800 49800098 49802409 0.54 [{'connected_gene': 'NCKAP5L', 'score': 11.91}, {'connected_gene': 'FMNL3', 'score': 10.0}, {'connected_gene': 'TMBIM6', 'score': 9.66}, {'connected_gene': 'C1QL4', 'score': 4.5}, {'connected_gene': 'GC12M049802', 'score': 0.44}, {'connected_gene': 'LSM6P2', 'score': 0.29}]
chr12 GH12I049776 49776202 49776867 1.04 [{'connected_gene': 'NCKAP5L', 'score': 11.89}, {'connected_gene': 'FMNL3', 'score': 10.76}, {'connected_gene': 'TMBIM6', 'score': 10.42}, {'connected_gene': 'MCRS1', 'score': 9.8}, {'connected_gene': 'LSM6P2', 'score': 0.44}, {'connected_gene': 'GC12M049802', 'score': 0.29}]
chr12 GH12I049823 49823366 49829670 2.5 [{'connected_gene': 'NCKAP5L', 'score': 553.27}, {'connected_gene': 'SMARCD1', 'score': 17.51}, {'connected_gene': 'LMBR1L', 'score': 13.74}, {'connected_gene': 'FAIM2', 'score': 12.73}, {'connected_gene': 'ASIC1', 'score': 12.69}, {'connected_gene': 'DDX23', 'score': 12.48}, {'connected_gene': 'BCDIN3D-AS1', 'score': 11.55}, {'connected_gene': 'CERS5', 'score': 10.88}, {'connected_gene': 'KMT2D', 'score': 10.28}, {'connected_gene': 'TUBA1A', 'score': 9.95}, {'connected_gene': 'ENSG00000272368', 'score': 9.88}, {'connected_gene': 'RPL35AP28', 'score': 4.55}, {'connected_gene': 'NMTRQ-TTG6-1', 'score': 0.44}]
chr12 GH12I049832 49832918 49833067 0.95 [{'connected_gene': 'NCKAP5L', 'score': 0.77}, {'connected_gene': 'BCDIN3D-AS1', 'score': 0.77}, {'connected_gene': 'BCDIN3D', 'score': 0.39}]
chr12 GH12I049931 49931018 49931495 1.05 [{'connected_gene': 'ASIC1', 'score': 10.24}, {'connected_gene': 'FAIM2', 'score': 7.27}, {'connected_gene': 'FMNL3', 'score': 6.0}, {'connected_gene': 'NCKAP5L', 'score': 1.53}, {'connected_gene': 'LOC105369763', 'score': 0.39}, {'connected_gene': 'LINC02395', 'score': 0.37}]
chr12 GH12I049841 49841541 49844129 2.04 [{'connected_gene': 'BCDIN3D', 'score': 564.28}, {'connected_gene': 'DDX23', 'score': 23.17}, {'connected_gene': 'KMT2D', 'score': 17.56}, {'connected_gene': 'ATF1', 'score': 16.34}, {'connected_gene': 'SMARCD1', 'score': 13.97}, {'connected_gene': 'LMBR1L', 'score': 13.23}, {'connected_gene': 'LIMA1', 'score': 10.64}, {'connected_gene': 'CCDC65', 'score': 4.91}, {'connected_gene': 'FAIM2', 'score': 4.4}, {'connected_gene': 'NCKAP5L', 'score': 0.39}]
chr12 GH12I049839 49839118 49839267 0.7 [{'connected_gene': 'BCDIN3D', 'score': 0.77}, {'connected_gene': 'NCKAP5L', 'score': 0.39}, {'connected_gene': 'BCDIN3D-AS1', 'score': 0.39}]
chr12 GH12I049667 49667920 49669161 0.2 [{'connected_gene': 'MCRS1', 'score': 15.4}, {'connected_gene': 'FMNL3', 'score': 11.98}, {'connected_gene': 'TMBIM6', 'score': 11.98}, {'connected_gene': 'FAM186B', 'score': 10.33}, {'connected_gene': 'RNU6-834P', 'score': 10.3}, {'connected_gene': 'NCKAP5L', 'score': 9.67}, {'connected_gene': 'PIR31660', 'score': 0.34}, {'connected_gene': 'LOC105369762', 'score': 0.28}]
chr12 GH12I049820 49820602 49821907 0.96 [{'connected_gene': 'TUBA1B', 'score': 4.86}, {'connected_gene': 'ASIC1', 'score': 4.5}, {'connected_gene': 'NMTRQ-TTG6-1', 'score': 0.77}, {'connected_gene': 'NCKAP5L', 'score': 0.44}, {'connected_gene': 'BCDIN3D-AS1', 'score': 0.44}, {'connected_gene': 'GC12P049810', 'score': 0.39}]
chr12 GH12I049867 49867218 49870405 1.47 [{'connected_gene': 'LOC100422296', 'score': 33.7}, {'connected_gene': 'PRPF40B', 'score': 24.88}, {'connected_gene': 'KMT2D', 'score': 17.56}, {'connected_gene': 'ATF1', 'score': 16.34}, {'connected_gene': 'ENSG00000257964', 'score': 14.09}, {'connected_gene': 'SMARCD1', 'score': 13.98}, {'connected_gene': 'BCDIN3D', 'score': 13.82}, {'connected_gene': 'LMBR1L', 'score': 13.23}, {'connected_gene': 'NCKAP5L', 'score': 10.87}, {'connected_gene': 'LIMA1', 'score': 10.64}, {'connected_gene': 'FMNL3', 'score': 10.23}, {'connected_gene': 'TMBIM6', 'score': 9.52}, {'connected_gene': 'FAIM2', 'score': 4.79}, {'connected_gene': 'RPL35AP28', 'score': 0.44}, {'connected_gene': 'GC12M049898', 'score': 0.29}]
chr12 GH12I049863 49863958 49864929 0.51 [{'connected_gene': 'RPL35AP28', 'score': 550.77}, {'connected_gene': 'NCKAP5L', 'score': 10.77}, {'connected_gene': 'AQP5', 'score': 10.3}, {'connected_gene': 'AQP6', 'score': 10.29}, {'connected_gene': 'AQP2', 'score': 9.9}, {'connected_gene': 'ENSG00000257253', 'score': 7.29}, {'connected_gene': 'GC12M049898', 'score': 0.28}]
chr12 GH12I049807 49807758 49813244 1.08 [{'connected_gene': 'GC12P049810', 'score': 550.77}, {'connected_gene': 'FMNL3', 'score': 10.25}, {'connected_gene': 'TMBIM6', 'score': 10.25}, {'connected_gene': 'C1QL4', 'score': 3.98}, {'connected_gene': 'GC12P049817', 'score': 0.44}, {'connected_gene': 'NCKAP5L', 'score': 0.37}]
chr12 GH12I049762 49762292 49764642 0.85 [{'connected_gene': 'PIR31272', 'score': 550.77}, {'connected_gene': 'NCKAP5L', 'score': 11.19}, {'connected_gene': 'FMNL3', 'score': 11.12}, {'connected_gene': 'TMBIM6', 'score': 10.69}, {'connected_gene': 'MCRS1', 'score': 9.05}, {'connected_gene': 'SPATS2', 'score': 6.26}, {'connected_gene': 'PIR62478', 'score': 0.34}]
chr12 GH12I049797 49797201 49797770 0.63 [{'connected_gene': 'GC12M049802', 'score': 0.44}, {'connected_gene': 'LSM6P2', 'score': 0.31}, {'connected_gene': 'NCKAP5L', 'score': 0.29}]

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