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
ENST00000502976 [[128888326, 128889413], [128889921, 128890120], [128890288, 128890381], [128890497, 128890614], [128902618, 128902748]] [[128889295, 128889413], [128889921, 128890120], [128890288, 128890381], [128890497, 128890600]]
ENST00000422453 [[128888326, 128889413], [128889921, 128890120], [128890288, 128890381], [128890476, 128890614], [128902618, 128902765]] [[128889295, 128889413], [128889921, 128890120], [128890288, 128890381], [128890476, 128890600]]
ENST00000451728 [[128888329, 128889413], [128889921, 128890123], [128890288, 128890381], [128890476, 128890614], [128902618, 128902742]] [[128889295, 128889413], [128889921, 128890123], [128890288, 128890381], [128890476, 128890600]]
ENST00000446936 [[128888329, 128889413], [128889921, 128890126], [128890288, 128890381], [128890497, 128890614], [128902618, 128902742]] [[128889295, 128889413], [128889921, 128890126], [128890288, 128890381], [128890497, 128890600]]
ENST00000500450 [[128888411, 128889413], [128889921, 128890120], [128890288, 128890351], [128890497, 128890614], [128902618, 128902753]] [[128889295, 128889413], [128889921, 128890120], [128890288, 128890351], [128890497, 128890600]]
ENST00000504813 [[128888411, 128889413], [128889921, 128890120], [128890288, 128890351], [128890476, 128890614], [128902618, 128902765]] [[128889295, 128889413], [128889921, 128890120], [128890288, 128890351], [128890476, 128890600]]
ENST00000441626 [[128888944, 128889413], [128889921, 128890126], [128890288, 128890381], [128890476, 128890614], [128902618, 128902753]] [[128889295, 128889413], [128889921, 128890126], [128890288, 128890381], [128890476, 128890600]]
ENST00000502372 [[128889074, 128889413], [128889921, 128890381], [128890476, 128890614], [128902618, 128902707]] None
ENST00000512338 [[128890010, 128890152], [128890288, 128890381], [128890494, 128890614], [128902618, 128902765]] [[128890010, 128890152], [128890288, 128890381], [128890494, 128890600]]
ENST00000507573 [[128890094, 128890614], [128902618, 128902739]] None
NM_001127192 [[128886657, 128889413], [128889921, 128890126], [128890288, 128890381], [128890476, 128890614], [128902618, 128902810]] [[128889295, 128889413], [128889921, 128890126], [128890288, 128890381], [128890476, 128890600]]
NM_001127193 [[128886657, 128889413], [128889921, 128890123], [128890288, 128890381], [128890476, 128890614], [128902618, 128902810]] [[128889295, 128889413], [128889921, 128890123], [128890288, 128890381], [128890476, 128890600]]
NM_003418 [[128886657, 128889413], [128889921, 128890120], [128890288, 128890381], [128890476, 128890614], [128902618, 128902810]] [[128889295, 128889413], [128889921, 128890120], [128890288, 128890381], [128890476, 128890600]]
NM_001127194 [[128886657, 128889413], [128889921, 128890126], [128890288, 128890381], [128890497, 128890614], [128902618, 128902810]] [[128889295, 128889413], [128889921, 128890126], [128890288, 128890381], [128890497, 128890600]]
NM_001127195 [[128886657, 128889413], [128889921, 128890123], [128890288, 128890381], [128890497, 128890614], [128902618, 128902810]] [[128889295, 128889413], [128889921, 128890123], [128890288, 128890381], [128890497, 128890600]]
NM_001127196 [[128886657, 128889413], [128889921, 128890120], [128890288, 128890381], [128890497, 128890614], [128902618, 128902810]] [[128889295, 128889413], [128889921, 128890120], [128890288, 128890381], [128890497, 128890600]]
Promoter
Chrom Start End Description
chr3 128890083 128890131 CAGE_peak_5_at_CNBP_5end
chr3 128890542 128890563 CAGE_peak_6_at_CNBP_5end
chr3 128902670 128902681 CAGE_peak_4_at_CNBP_5end
chr3 128902686 128902697 CAGE_peak_3_at_CNBP_5end
chr3 128902729 128902746 CAGE_peak_1_at_CNBP_5end
chr3 128902759 128902770 CAGE_peak_2_at_CNBP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I129207 129207019 129208016 0.49 [{'connected_gene': 'CNBP', 'score': 12.87}, {'connected_gene': 'ISY1', 'score': 11.57}, {'connected_gene': 'KIAA1257', 'score': 10.72}, {'connected_gene': 'EFCC1', 'score': 10.71}, {'connected_gene': 'GP9', 'score': 10.54}, {'connected_gene': 'POU5F1P6', 'score': 4.02}, {'connected_gene': 'GC03M129220', 'score': 0.39}, {'connected_gene': 'LOC105374101', 'score': 0.34}]
chr3 GH03I129251 129251729 129255465 0.56 [{'connected_gene': 'CNBP', 'score': 12.68}, {'connected_gene': 'ISY1', 'score': 12.55}, {'connected_gene': 'RAB43', 'score': 11.32}, {'connected_gene': 'KIAA1257', 'score': 11.1}, {'connected_gene': 'EFCC1', 'score': 11.09}, {'connected_gene': 'GP9', 'score': 10.46}, {'connected_gene': 'HMCES', 'score': 7.2}, {'connected_gene': 'ACAD9', 'score': 5.17}, {'connected_gene': 'COPG1', 'score': 0.77}, {'connected_gene': 'MIR6826', 'score': 0.37}]
chr3 GH03I129259 129259778 129259927 0.57 [{'connected_gene': 'CNBP', 'score': 11.26}, {'connected_gene': 'ISY1', 'score': 11.15}, {'connected_gene': 'COPG1', 'score': 0.39}, {'connected_gene': 'MIR6826', 'score': 0.39}]
chr3 GH03I128801 128801802 128807377 1.25 [{'connected_gene': 'LOC653712', 'score': 20.26}, {'connected_gene': 'ENSG00000250796', 'score': 11.71}, {'connected_gene': 'ENSG00000207130', 'score': 10.67}, {'connected_gene': 'CNBP', 'score': 10.11}, {'connected_gene': 'ENSG00000261159', 'score': 10.01}, {'connected_gene': 'RAB7A', 'score': 7.32}, {'connected_gene': 'ACAD9', 'score': 4.17}, {'connected_gene': 'RPS15AP16', 'score': 0.44}, {'connected_gene': 'PIR59714', 'score': 0.34}]
chr3 GH03I129024 129024950 129027800 1.36 [{'connected_gene': 'KIAA1257', 'score': 550.77}, {'connected_gene': 'EFCC1', 'score': 19.47}, {'connected_gene': 'GP9', 'score': 12.01}, {'connected_gene': 'CNBP', 'score': 11.58}, {'connected_gene': 'RAB43', 'score': 11.38}, {'connected_gene': 'PIR62024', 'score': 0.37}]
chr3 GH03I129050 129050974 129055633 1.39 [{'connected_gene': 'KIAA1257', 'score': 11.3}, {'connected_gene': 'ISY1', 'score': 11.26}, {'connected_gene': 'EFCC1', 'score': 11.22}, {'connected_gene': 'RAB43', 'score': 11.11}, {'connected_gene': 'CNBP', 'score': 10.67}, {'connected_gene': 'RAB7A', 'score': 7.22}, {'connected_gene': 'RPL32P3', 'score': 5.4}, {'connected_gene': 'GP9', 'score': 0.77}, {'connected_gene': 'LOC100130760', 'score': 0.44}]
chr3 GH03I129159 129159376 129163731 2.29 [{'connected_gene': 'ISY1', 'score': 562.13}, {'connected_gene': 'ISY1-RAB43', 'score': 550.77}, {'connected_gene': 'RPL32P3', 'score': 22.43}, {'connected_gene': 'ENSG00000244932', 'score': 17.31}, {'connected_gene': 'H1FX-AS1', 'score': 12.57}, {'connected_gene': 'CNBP', 'score': 10.4}, {'connected_gene': 'H1FX', 'score': 9.88}, {'connected_gene': 'ENSG00000273437', 'score': 0.77}, {'connected_gene': 'GC03M129158', 'score': 0.44}, {'connected_gene': 'GC03P129797', 'score': 0.37}]
chr3 GH03I129277 129277667 129280720 1.98 [{'connected_gene': 'HMCES', 'score': 579.85}, {'connected_gene': 'ISY1', 'score': 17.5}, {'connected_gene': 'MBD4', 'score': 16.66}, {'connected_gene': 'ENSG00000244932', 'score': 14.15}, {'connected_gene': 'RPL32P3', 'score': 12.77}, {'connected_gene': 'H1FX', 'score': 11.63}, {'connected_gene': 'RPS15AP16', 'score': 11.47}, {'connected_gene': 'CNBP', 'score': 10.63}, {'connected_gene': 'COPG1', 'score': 10.55}, {'connected_gene': 'RPN1', 'score': 9.75}, {'connected_gene': 'ACAD9', 'score': 6.89}, {'connected_gene': 'RAB7A', 'score': 4.09}, {'connected_gene': 'GC03M129283', 'score': 0.34}]
chr3 GH03I129256 129256618 129258851 0.57 [{'connected_gene': 'HMCES', 'score': 14.74}, {'connected_gene': 'ISY1', 'score': 12.29}, {'connected_gene': 'RAB43', 'score': 11.32}, {'connected_gene': 'CNBP', 'score': 11.27}, {'connected_gene': 'KIAA1257', 'score': 11.09}, {'connected_gene': 'EFCC1', 'score': 11.09}, {'connected_gene': 'GP9', 'score': 10.46}, {'connected_gene': 'H1FX-AS1', 'score': 5.63}, {'connected_gene': 'RPL32P3', 'score': 4.87}, {'connected_gene': 'COPG1', 'score': 0.44}, {'connected_gene': 'MIR6826', 'score': 0.39}]
chr3 GH03I129275 129275982 129277319 0.77 [{'connected_gene': 'HMCES', 'score': 29.85}, {'connected_gene': 'H1FX-AS1', 'score': 11.95}, {'connected_gene': 'H1FX', 'score': 11.95}, {'connected_gene': 'NUP210P3', 'score': 11.92}, {'connected_gene': 'CNBP', 'score': 11.26}, {'connected_gene': 'RAB43', 'score': 10.81}, {'connected_gene': 'ACAD9', 'score': 5.71}, {'connected_gene': 'RPL32P3', 'score': 5.58}, {'connected_gene': 'MIR6826', 'score': 0.77}, {'connected_gene': 'COPG1', 'score': 0.31}]
chr3 GH03I129116 129116131 129124027 2.68 [{'connected_gene': 'RAB43', 'score': 562.97}, {'connected_gene': 'KIAA1257', 'score': 33.4}, {'connected_gene': 'ISY1', 'score': 14.01}, {'connected_gene': 'GP9', 'score': 13.55}, {'connected_gene': 'EFCC1', 'score': 10.74}, {'connected_gene': 'MBD4', 'score': 6.86}, {'connected_gene': 'ACAD9', 'score': 5.66}, {'connected_gene': 'RPL32P3', 'score': 4.89}, {'connected_gene': 'HMCES', 'score': 4.3}, {'connected_gene': 'CNBP', 'score': 2.8}, {'connected_gene': 'H1FX', 'score': 2.69}, {'connected_gene': 'RAB7A', 'score': 1.38}, {'connected_gene': 'ENSG00000273174', 'score': 0.77}, {'connected_gene': 'PIR33900', 'score': 0.77}, {'connected_gene': 'ISY1-RAB43', 'score': 0.26}]
chr3 GH03I129172 129172602 129174104 0.43 [{'connected_gene': 'RAB43', 'score': 11.5}, {'connected_gene': 'GP9', 'score': 10.59}, {'connected_gene': 'GC03M129158', 'score': 0.44}, {'connected_gene': 'CNBP', 'score': 0.39}]
chr3 GH03I129169 129169164 129172094 0.31 [{'connected_gene': 'RAB43', 'score': 11.52}, {'connected_gene': 'GP9', 'score': 10.59}, {'connected_gene': 'RPL32P3', 'score': 5.2}, {'connected_gene': 'GC03M129158', 'score': 0.77}, {'connected_gene': 'CNBP', 'score': 0.39}, {'connected_gene': 'GC03P129797', 'score': 0.31}]
chr3 GH03I129021 129021927 129023929 0.89 [{'connected_gene': 'GP9', 'score': 11.89}, {'connected_gene': 'CNBP', 'score': 11.57}, {'connected_gene': 'RAB43', 'score': 11.15}, {'connected_gene': 'LOC653712', 'score': 6.47}, {'connected_gene': 'EFCC1', 'score': 5.01}, {'connected_gene': 'ENSG00000261159', 'score': 4.31}, {'connected_gene': 'KIAA1257', 'score': 0.77}, {'connected_gene': 'PIR62024', 'score': 0.37}]
chr3 GH03I129248 129248298 129250875 2.18 [{'connected_gene': 'COPG1', 'score': 550.77}, {'connected_gene': 'PIR44075', 'score': 550.77}, {'connected_gene': 'HMCES', 'score': 15.1}, {'connected_gene': 'CNBP', 'score': 12.68}, {'connected_gene': 'ISY1', 'score': 12.56}, {'connected_gene': 'RAB43', 'score': 11.17}, {'connected_gene': 'GP9', 'score': 10.26}, {'connected_gene': 'H1FX-AS1', 'score': 5.13}, {'connected_gene': 'MBD4', 'score': 4.28}, {'connected_gene': 'MIR6826', 'score': 0.34}]
chr3 GH03I129398 129398174 129400372 1.54 [{'connected_gene': 'RPL32P3', 'score': 576.33}, {'connected_gene': 'GC03M129400', 'score': 550.77}, {'connected_gene': 'SNORA7B', 'score': 550.77}, {'connected_gene': 'IFT122', 'score': 20.22}, {'connected_gene': 'ISY1', 'score': 13.76}, {'connected_gene': 'H1FX', 'score': 11.47}, {'connected_gene': 'MBD4', 'score': 11.35}, {'connected_gene': 'RHO', 'score': 10.27}, {'connected_gene': 'ENSG00000244932', 'score': 10.19}, {'connected_gene': 'CNBP', 'score': 10.13}, {'connected_gene': 'LINC02021', 'score': 4.83}, {'connected_gene': 'EFCAB12', 'score': 4.83}, {'connected_gene': 'GC03P129796', 'score': 0.34}]
chr3 GH03I129178 129178341 129186747 2.27 [{'connected_gene': 'LOC105374101', 'score': 550.77}, {'connected_gene': 'CNBP', 'score': 550.77}, {'connected_gene': 'ENSG00000244932', 'score': 22.16}, {'connected_gene': 'RPL32P3', 'score': 21.62}, {'connected_gene': 'ISY1', 'score': 20.17}, {'connected_gene': 'MBD4', 'score': 14.06}, {'connected_gene': 'RPS15AP16', 'score': 11.48}, {'connected_gene': 'H1FX', 'score': 11.47}, {'connected_gene': 'H1FX-AS1', 'score': 10.91}, {'connected_gene': 'COPG1', 'score': 10.45}, {'connected_gene': 'RPN1', 'score': 9.75}, {'connected_gene': 'RAB7A', 'score': 5.61}, {'connected_gene': 'EFCC1', 'score': 4.16}, {'connected_gene': 'GC03M129158', 'score': 0.39}]
chr3 GH03I129175 129175015 129178232 0.57 [{'connected_gene': 'GC03M129158', 'score': 0.44}, {'connected_gene': 'CNBP', 'score': 0.44}]
chr3 GH03I129174 129174366 129174442 0.4 [{'connected_gene': 'GC03M129158', 'score': 0.44}, {'connected_gene': 'CNBP', 'score': 0.44}]
chr3 GH03I129167 129167403 129168699 0.31 [{'connected_gene': 'GC03M129158', 'score': 550.77}, {'connected_gene': 'RAB43', 'score': 11.52}, {'connected_gene': 'GP9', 'score': 10.81}, {'connected_gene': 'RPL32P3', 'score': 5.06}, {'connected_gene': 'CNBP', 'score': 0.37}, {'connected_gene': 'GC03P129797', 'score': 0.31}]
chr3 GH03I128756 128756429 128756827 0.46 [{'connected_gene': 'ENSG00000207130', 'score': 12.24}, {'connected_gene': 'ACAD9', 'score': 8.37}, {'connected_gene': 'RAB7A', 'score': 7.24}, {'connected_gene': 'ISY1', 'score': 1.5}, {'connected_gene': 'CNBP', 'score': 1.19}, {'connected_gene': 'PIR62870', 'score': 0.77}, {'connected_gene': 'MARK2P8', 'score': 0.44}]
chr3 GH03I129223 129223795 129235799 1.75 [{'connected_gene': 'GC03M129230', 'score': 550.77}, {'connected_gene': 'LOC105374102', 'score': 550.77}, {'connected_gene': 'KIAA1257', 'score': 24.24}, {'connected_gene': 'RAB43', 'score': 23.67}, {'connected_gene': 'CNBP', 'score': 17.84}, {'connected_gene': 'GP9', 'score': 17.81}, {'connected_gene': 'ISY1', 'score': 15.55}, {'connected_gene': 'HMCES', 'score': 14.67}, {'connected_gene': 'MBD4', 'score': 13.58}, {'connected_gene': 'RPL32P3', 'score': 5.23}, {'connected_gene': 'ACAD9', 'score': 4.78}, {'connected_gene': 'POU5F1P6', 'score': 4.3}, {'connected_gene': 'RAB7A', 'score': 4.03}, {'connected_gene': 'RPS27P12', 'score': 0.39}]

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