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
ENST00000596742 [[51994610, 51995083], [52000133, 52000230], [52000602, 52000699], [52001271, 52001541], [52002423, 52002471], [52002691, 52002970], [52003173, 52003234], [52004560, 52005026]] [[52003196, 52003234], [52004560, 52004987]]
ENST00000291707 [[51994617, 51995083], [52000133, 52000230], [52000602, 52000699], [52001271, 52001541], [52002423, 52002471], [52002691, 52002970], [52003173, 52003554], [52004560, 52005043]] [[51994894, 51995083], [52000133, 52000230], [52000602, 52000699], [52001271, 52001541], [52002423, 52002471], [52002691, 52002970], [52003173, 52003554], [52004560, 52004987]]
ENST00000598614 [[51994894, 51995083], [52000133, 52000230], [52000602, 52000699], [52001271, 52001541], [52002423, 52002471], [52002691, 52002970], [52003173, 52003627]] [[51994894, 51995083], [52000133, 52000230], [52000602, 52000699], [52001271, 52001541], [52002423, 52002471], [52002691, 52002970], [52003173, 52003627]]
NM_033329 [[51994480, 51995083], [52000133, 52000230], [52000602, 52000699], [52001271, 52001541], [52002423, 52002471], [52002691, 52002970], [52003173, 52003647]] [[51994894, 51995083], [52000133, 52000230], [52000602, 52000699], [52001271, 52001541], [52002423, 52002471], [52002691, 52002970], [52003173, 52003627]]
NM_053003 [[51994480, 51995083], [52000133, 52000230], [52000602, 52000699], [52001271, 52001541], [52002423, 52002471], [52002691, 52002970], [52003173, 52003554], [52004560, 52005043]] [[51994894, 51995083], [52000133, 52000230], [52000602, 52000699], [52001271, 52001541], [52002423, 52002471], [52002691, 52002970], [52003173, 52003554], [52004560, 52004987]]
Promoter
Chrom Start End Description
chr19 52004986 52004997 CAGE_peak_2_at_SIGLEC12_5end
chr19 52005009 52005060 CAGE_peak_1_at_SIGLEC12_5end
chr19 52005061 52005068 CAGE_peak_3_at_SIGLEC12_5end
chr19 52005184 52005223 CAGE_peak_4_at_SIGLEC12_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I051531 51531001 51532421 1.48 [{'connected_gene': 'SIGLEC6', 'score': 550.77}, {'connected_gene': 'SIGLEC12', 'score': 32.44}, {'connected_gene': 'CEACAM18', 'score': 11.58}, {'connected_gene': 'SIGLEC8', 'score': 10.88}, {'connected_gene': 'SIGLEC5', 'score': 10.79}, {'connected_gene': 'SIGLEC14', 'score': 10.78}, {'connected_gene': 'RPL7P51', 'score': 10.78}, {'connected_gene': 'ENSG00000268777', 'score': 0.39}]
chr19 GH19I051545 51545788 51553758 1.74 [{'connected_gene': 'SIGLEC6', 'score': 31.83}, {'connected_gene': 'ZNF175', 'score': 31.47}, {'connected_gene': 'ZNF841', 'score': 18.48}, {'connected_gene': 'ZNF616', 'score': 17.04}, {'connected_gene': 'ZNF836', 'score': 16.95}, {'connected_gene': 'ZNF808', 'score': 16.11}, {'connected_gene': 'SIGLEC14', 'score': 16.06}, {'connected_gene': 'SIGLEC8', 'score': 16.03}, {'connected_gene': 'ZNF350', 'score': 12.25}, {'connected_gene': 'CEACAM18', 'score': 11.79}, {'connected_gene': 'SIGLEC12', 'score': 11.44}, {'connected_gene': 'SIGLEC5', 'score': 11.21}, {'connected_gene': 'RPL7P51', 'score': 11.21}, {'connected_gene': 'CTU1', 'score': 10.89}, {'connected_gene': 'ZNF766', 'score': 10.66}, {'connected_gene': 'MIR125A', 'score': 10.49}, {'connected_gene': 'MIR99B', 'score': 10.49}, {'connected_gene': 'SPACA6', 'score': 10.49}, {'connected_gene': 'MIRLET7E', 'score': 10.49}, {'connected_gene': 'ZNF480', 'score': 10.29}, {'connected_gene': 'ZNF613', 'score': 10.13}, {'connected_gene': 'ZNF577', 'score': 9.91}, {'connected_gene': 'ENSG00000268316', 'score': 9.7}, {'connected_gene': 'CD33', 'score': 1.95}, {'connected_gene': 'SIGLEC7', 'score': 1.76}, {'connected_gene': 'ZNF614', 'score': 1.72}, {'connected_gene': 'ZNF615', 'score': 1.45}, {'connected_gene': 'ZNF649', 'score': 1.36}, {'connected_gene': 'SIGLEC28P', 'score': 0.77}, {'connected_gene': 'SIGLEC29P', 'score': 0.37}]
chr19 GH19I051539 51539331 51543471 0.81 [{'connected_gene': 'SIGLEC12', 'score': 19.25}, {'connected_gene': 'CEACAM18', 'score': 11.81}, {'connected_gene': 'SIGLEC8', 'score': 11.39}, {'connected_gene': 'SIGLEC5', 'score': 11.2}, {'connected_gene': 'SIGLEC14', 'score': 11.2}, {'connected_gene': 'RPL7P51', 'score': 11.2}, {'connected_gene': 'ZNF175', 'score': 6.51}, {'connected_gene': 'SIGLEC28P', 'score': 0.77}, {'connected_gene': 'SIGLEC6', 'score': 0.44}]
chr19 GH19I051438 51438367 51438456 0.59 [{'connected_gene': 'SIGLEC12', 'score': 12.05}, {'connected_gene': 'CEACAM18', 'score': 11.44}, {'connected_gene': 'VSIG10L', 'score': 11.08}, {'connected_gene': 'SIGLEC5', 'score': 11.01}, {'connected_gene': 'SIGLEC14', 'score': 11.01}, {'connected_gene': 'RPL7P51', 'score': 11.01}, {'connected_gene': 'NKG7', 'score': 10.85}, {'connected_gene': 'CLDND2', 'score': 10.85}, {'connected_gene': 'ETFB', 'score': 10.84}, {'connected_gene': 'SPACA6', 'score': 9.86}, {'connected_gene': 'MIR125A', 'score': 9.86}, {'connected_gene': 'MIR99B', 'score': 9.86}, {'connected_gene': 'MIRLET7E', 'score': 9.86}, {'connected_gene': 'ENSG00000269181', 'score': 0.77}, {'connected_gene': 'ENSG00000268711', 'score': 0.39}]
chr19 GH19I051474 51474335 51476103 0.72 [{'connected_gene': 'SIGLEC12', 'score': 6.35}, {'connected_gene': 'CEACAM18', 'score': 0.77}, {'connected_gene': 'SIGLEC26P', 'score': 0.44}]
chr19 GH19I051501 51500601 51502400 1.22 [{'connected_gene': 'SIGLEC12', 'score': 601.77}, {'connected_gene': 'CEACAM18', 'score': 0.34}]
chr19 GH19I051500 51500380 51500439 0.5 [{'connected_gene': 'SIGLEC12', 'score': 550.77}, {'connected_gene': 'CEACAM18', 'score': 0.34}]
chr19 GH19I051515 51515007 51515156 0.73 [{'connected_gene': 'SIGLEC12', 'score': 7.22}, {'connected_gene': 'ENSG00000268777', 'score': 0.77}, {'connected_gene': 'SIGLEC27P', 'score': 0.44}]
chr19 GH19I051477 51477068 51480776 1.35 [{'connected_gene': 'CEACAM18', 'score': 556.89}, {'connected_gene': 'ZNF577', 'score': 16.21}, {'connected_gene': 'ZNF766', 'score': 14.56}, {'connected_gene': 'ZNF616', 'score': 11.81}, {'connected_gene': 'ZNF432', 'score': 11.56}, {'connected_gene': 'ZNF649', 'score': 10.89}, {'connected_gene': 'SIGLEC12', 'score': 9.93}, {'connected_gene': 'ZNF841', 'score': 9.82}]
chr19 GH19I051131 51131613 51133000 1.53 [{'connected_gene': 'SIGLEC9', 'score': 18.2}, {'connected_gene': 'CTU1', 'score': 11.59}, {'connected_gene': 'SIGLEC10', 'score': 5.88}, {'connected_gene': 'C19orf81', 'score': 5.52}, {'connected_gene': 'SIGLEC17P', 'score': 5.36}, {'connected_gene': 'SIGLEC7', 'score': 2.71}, {'connected_gene': 'CD33', 'score': 1.71}, {'connected_gene': 'SIGLEC12', 'score': 1.38}, {'connected_gene': 'ENSG00000267990', 'score': 0.44}]
chr19 GH19I051121 51121002 51131268 2.09 [{'connected_gene': 'SIGLEC9', 'score': 565.24}, {'connected_gene': 'ZNF613', 'score': 17.43}, {'connected_gene': 'ZNF841', 'score': 11.46}, {'connected_gene': 'ZNF577', 'score': 10.89}, {'connected_gene': 'POLD1', 'score': 10.34}, {'connected_gene': 'SIGLEC18P', 'score': 6.91}, {'connected_gene': 'KLK11', 'score': 5.28}, {'connected_gene': 'CTU1', 'score': 5.17}, {'connected_gene': 'C19orf81', 'score': 5.08}, {'connected_gene': 'SIGLEC10', 'score': 4.84}, {'connected_gene': 'CD33', 'score': 2.19}, {'connected_gene': 'SIGLEC12', 'score': 2.0}, {'connected_gene': 'SIGLEC7', 'score': 1.61}, {'connected_gene': 'ENSG00000267990', 'score': 0.39}]
chr19 GH19I051136 51136001 51145400 1.96 [{'connected_gene': 'SIGLEC7', 'score': 558.62}, {'connected_gene': 'SIGLEC17P', 'score': 11.99}, {'connected_gene': 'CTU1', 'score': 11.6}, {'connected_gene': 'POLD1', 'score': 11.58}, {'connected_gene': 'SIGLEC9', 'score': 11.51}, {'connected_gene': 'ZNF616', 'score': 11.13}, {'connected_gene': 'KLK14', 'score': 10.62}, {'connected_gene': 'KLK10', 'score': 10.12}, {'connected_gene': 'SIGLEC10', 'score': 3.02}, {'connected_gene': 'CD33', 'score': 2.23}, {'connected_gene': 'SIGLEC12', 'score': 1.11}, {'connected_gene': 'ENSG00000267990', 'score': 0.77}, {'connected_gene': 'ENSG00000267895', 'score': 0.77}]
chr19 GH19I051796 51796118 51796565 1.24 [{'connected_gene': 'FPR3', 'score': 592.72}, {'connected_gene': 'SIGLEC6', 'score': 10.7}, {'connected_gene': 'SIGLEC14', 'score': 10.12}, {'connected_gene': 'ZNF350', 'score': 2.97}, {'connected_gene': 'SIGLEC10', 'score': 2.52}, {'connected_gene': 'FPR1', 'score': 2.23}, {'connected_gene': 'SIGLEC12', 'score': 2.09}, {'connected_gene': 'FPR2', 'score': 1.51}]
chr19 GH19I051816 51816793 51817028 0.31 [{'connected_gene': 'FPR3', 'score': 16.0}, {'connected_gene': 'ZNF577', 'score': 7.08}, {'connected_gene': 'SIGLEC14', 'score': 6.18}, {'connected_gene': 'ZNF350', 'score': 3.07}, {'connected_gene': 'FPR1', 'score': 2.91}, {'connected_gene': 'SIGLEC10', 'score': 2.79}, {'connected_gene': 'SIGLEC12', 'score': 2.09}, {'connected_gene': 'FPR2', 'score': 2.03}, {'connected_gene': 'PIR40418', 'score': 0.44}, {'connected_gene': 'ENSG00000268316', 'score': 0.34}, {'connected_gene': 'LOC105369197', 'score': 0.29}]
chr19 GH19I051830 51830293 51830666 0.59 [{'connected_gene': 'FPR3', 'score': 17.19}, {'connected_gene': 'SIGLEC14', 'score': 14.48}, {'connected_gene': 'ZNF649', 'score': 10.63}, {'connected_gene': 'SIGLEC5', 'score': 9.07}, {'connected_gene': 'RPL7P51', 'score': 9.07}, {'connected_gene': 'ZNF350', 'score': 2.86}, {'connected_gene': 'FPR1', 'score': 2.65}, {'connected_gene': 'SIGLEC12', 'score': 2.58}, {'connected_gene': 'SIGLEC10', 'score': 2.31}, {'connected_gene': 'FPR2', 'score': 1.9}, {'connected_gene': 'ENSG00000268316', 'score': 0.39}, {'connected_gene': 'PIR40418', 'score': 0.37}, {'connected_gene': 'LOC105369197', 'score': 0.37}, {'connected_gene': 'ZNF577', 'score': 0.21}]
chr19 GH19I051798 51798137 51801115 1.66 [{'connected_gene': 'FPR3', 'score': 11.02}, {'connected_gene': 'SIGLEC14', 'score': 9.53}, {'connected_gene': 'ZNF649', 'score': 5.87}, {'connected_gene': 'SIGLEC8', 'score': 4.32}, {'connected_gene': 'FPR1', 'score': 3.35}, {'connected_gene': 'ZNF350', 'score': 2.82}, {'connected_gene': 'SIGLEC6', 'score': 2.8}, {'connected_gene': 'FPR2', 'score': 2.13}, {'connected_gene': 'SIGLEC12', 'score': 1.96}, {'connected_gene': 'SIGLEC10', 'score': 1.91}, {'connected_gene': 'ZNF175', 'score': 1.43}]
chr19 GH19I051815 51815125 51815304 0.36 [{'connected_gene': 'FPR3', 'score': 30.3}, {'connected_gene': 'SIGLEC14', 'score': 4.72}, {'connected_gene': 'FPR1', 'score': 1.89}, {'connected_gene': 'ZNF350', 'score': 1.71}, {'connected_gene': 'SIGLEC12', 'score': 1.49}, {'connected_gene': 'SIGLEC10', 'score': 1.47}, {'connected_gene': 'FPR2', 'score': 1.44}, {'connected_gene': 'PIR40418', 'score': 0.77}, {'connected_gene': 'ENSG00000268316', 'score': 0.31}, {'connected_gene': 'LOC105369197', 'score': 0.29}, {'connected_gene': 'ZNF577', 'score': 0.18}]
chr19 GH19I051788 51788709 51789995 1.02 [{'connected_gene': 'FPR3', 'score': 9.86}, {'connected_gene': 'SIGLEC14', 'score': 9.35}, {'connected_gene': 'FPR1', 'score': 2.52}, {'connected_gene': 'FPR2', 'score': 2.25}, {'connected_gene': 'ZNF350', 'score': 1.7}, {'connected_gene': 'SIGLEC10', 'score': 1.43}, {'connected_gene': 'SIGLEC12', 'score': 1.35}, {'connected_gene': 'LOC105372448', 'score': 0.44}]
chr19 GH19I051565 51565600 51565866 0.87 [{'connected_gene': 'SIGLEC29P', 'score': 550.77}, {'connected_gene': 'SIGLEC6', 'score': 17.45}, {'connected_gene': 'ZNF175', 'score': 11.0}, {'connected_gene': 'CD33', 'score': 2.4}, {'connected_gene': 'SIGLEC8', 'score': 2.34}, {'connected_gene': 'SIGLEC12', 'score': 2.02}, {'connected_gene': 'SIGLEC7', 'score': 1.41}]
chr19 GH19I051544 51544015 51545584 0.31 [{'connected_gene': 'SIGLEC28P', 'score': 550.77}, {'connected_gene': 'SIGLEC12', 'score': 14.96}, {'connected_gene': 'CEACAM18', 'score': 11.8}, {'connected_gene': 'SIGLEC8', 'score': 11.38}, {'connected_gene': 'SIGLEC5', 'score': 11.2}, {'connected_gene': 'SIGLEC14', 'score': 11.2}, {'connected_gene': 'RPL7P51', 'score': 11.2}, {'connected_gene': 'SIGLEC6', 'score': 0.39}]
chr19 GH19I051506 51506182 51509056 1.16 [{'connected_gene': 'SIGLEC27P', 'score': 550.77}, {'connected_gene': 'SIGLEC12', 'score': 43.44}, {'connected_gene': 'SIGLEC14', 'score': 4.76}, {'connected_gene': 'ENSG00000268839', 'score': 0.77}]
chr19 GH19I051466 51466266 51468988 1.46 [{'connected_gene': 'SIGLEC26P', 'score': 550.77}, {'connected_gene': 'SIGLEC6', 'score': 25.17}, {'connected_gene': 'ZNF175', 'score': 10.9}, {'connected_gene': 'SIGLEC5', 'score': 10.84}, {'connected_gene': 'SIGLEC14', 'score': 10.84}, {'connected_gene': 'RPL7P51', 'score': 10.84}, {'connected_gene': 'FPR3', 'score': 9.41}, {'connected_gene': 'SIGLEC12', 'score': 7.13}, {'connected_gene': 'SIGLEC8', 'score': 7.12}, {'connected_gene': 'CD33', 'score': 3.78}, {'connected_gene': 'SIGLEC7', 'score': 2.99}, {'connected_gene': 'ZNF649', 'score': 2.87}, {'connected_gene': 'ZNF613', 'score': 2.26}, {'connected_gene': 'SIGLEC25P', 'score': 0.44}]
chr19 GH19I051472 51472625 51474075 1.01 [{'connected_gene': 'RPL7P51', 'score': 10.71}, {'connected_gene': 'SIGLEC5', 'score': 10.71}, {'connected_gene': 'SIGLEC14', 'score': 10.71}, {'connected_gene': 'FPR3', 'score': 9.41}, {'connected_gene': 'SIGLEC12', 'score': 6.88}, {'connected_gene': 'SIGLECL1', 'score': 3.19}, {'connected_gene': 'KLK14', 'score': 2.42}, {'connected_gene': 'SIGLEC26P', 'score': 0.77}, {'connected_gene': 'CEACAM18', 'score': 0.44}]
chr19 GH19I051593 51593628 51595200 1.48 [{'connected_gene': 'ENSG00000269388', 'score': 557.69}, {'connected_gene': 'LINC01530', 'score': 550.77}, {'connected_gene': 'ZNF175', 'score': 8.62}, {'connected_gene': 'ENSG00000267808', 'score': 6.96}, {'connected_gene': 'SIGLEC14', 'score': 5.6}, {'connected_gene': 'SIGLEC12', 'score': 5.2}]
chr19 GH19I052141 52141982 52142657 0.46 [{'connected_gene': 'ENSG00000268458', 'score': 550.77}, {'connected_gene': 'RPL37P23', 'score': 550.77}, {'connected_gene': 'GC19P052144', 'score': 550.77}, {'connected_gene': 'SIGLEC12', 'score': 5.93}, {'connected_gene': 'ZNF616', 'score': 0.77}, {'connected_gene': 'ENSG00000267827', 'score': 0.31}]
chr19 GH19I051811 51811067 51812092 0.95 [{'connected_gene': 'PIR40418', 'score': 550.77}, {'connected_gene': 'SIGLEC14', 'score': 8.5}, {'connected_gene': 'ZNF577', 'score': 7.59}, {'connected_gene': 'ZNF841', 'score': 4.99}, {'connected_gene': 'FPR3', 'score': 4.81}, {'connected_gene': 'ZNF350', 'score': 2.49}, {'connected_gene': 'FPR1', 'score': 2.47}, {'connected_gene': 'SIGLEC12', 'score': 2.0}, {'connected_gene': 'SIGLEC10', 'score': 1.89}, {'connected_gene': 'FPR2', 'score': 1.71}, {'connected_gene': 'ENSG00000268316', 'score': 0.31}, {'connected_gene': 'LOC105369197', 'score': 0.28}]
chr19 GH19I051803 51803320 51809000 1.71 [{'connected_gene': 'PIR60089', 'score': 550.77}, {'connected_gene': 'SIGLEC14', 'score': 28.24}, {'connected_gene': 'FPR3', 'score': 22.47}, {'connected_gene': 'SIGLEC8', 'score': 10.13}, {'connected_gene': 'RPL7P51', 'score': 9.62}, {'connected_gene': 'SIGLEC5', 'score': 9.61}, {'connected_gene': 'ZNF577', 'score': 7.12}, {'connected_gene': 'ENSG00000269483', 'score': 5.6}, {'connected_gene': 'ZNF766', 'score': 4.89}, {'connected_gene': 'SIGLEC12', 'score': 3.65}, {'connected_gene': 'FPR1', 'score': 3.63}, {'connected_gene': 'ZNF350', 'score': 2.91}, {'connected_gene': 'FPR2', 'score': 2.7}, {'connected_gene': 'SIGLEC10', 'score': 1.99}, {'connected_gene': 'PIR40418', 'score': 0.44}, {'connected_gene': 'LOC105369197', 'score': 0.26}]

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