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
ENST00000216492 [[93389424, 93389750], [93390543, 93390590], [93392949, 93393043], [93393894, 93393963], [93396061, 93396160], [93397594, 93398047], [93398714, 93399196], [93401145, 93401638]] [[93389704, 93389750], [93390543, 93390590], [93392949, 93393043], [93393894, 93393963], [93396061, 93396160], [93397594, 93398047], [93398714, 93399196], [93401145, 93401229]]
ENST00000556076 [[93389501, 93389750], [93390543, 93390590], [93393894, 93393963], [93396061, 93396160], [93397594, 93398026]] [[93389704, 93389750], [93390543, 93390590], [93393894, 93393918]]
ENST00000334654 [[93389520, 93389750], [93390543, 93390590], [93392949, 93393043], [93393894, 93393963], [93396061, 93396160], [93398714, 93399196], [93401145, 93401598]] [[93389704, 93389750], [93390543, 93390590], [93392949, 93393043], [93393894, 93393963], [93396061, 93396160], [93398714, 93399196], [93401145, 93401229]]
ENST00000553866 [[93389707, 93389750], [93392949, 93393043], [93393894, 93393963], [93396061, 93396160], [93397594, 93398047], [93398482, 93398613]] None
ENST00000556098 [[93392445, 93393043], [93393894, 93393934]] None
ENST00000556876 [[93398021, 93398047], [93398714, 93399600]] None
NM_001301690 [[93389444, 93389750], [93390543, 93390590], [93392949, 93393043], [93393894, 93393963], [93396061, 93396160], [93398714, 93399196], [93401145, 93401638]] [[93389704, 93389750], [93390543, 93390590], [93392949, 93393043], [93393894, 93393963], [93396061, 93396160], [93398714, 93399196], [93401145, 93401229]]
NM_001275 [[93389444, 93389750], [93390543, 93390590], [93392949, 93393043], [93393894, 93393963], [93396061, 93396160], [93397594, 93398047], [93398714, 93399196], [93401145, 93401638]] [[93389704, 93389750], [93390543, 93390590], [93392949, 93393043], [93393894, 93393963], [93396061, 93396160], [93397594, 93398047], [93398714, 93399196], [93401145, 93401229]]
Promoter
Chrom Start End Description
chr14 93388970 93388985 CAGE_peak_3_at_CHGA_5end
chr14 93388989 93389000 CAGE_peak_6_at_CHGA_5end
chr14 93389002 93389019 CAGE_peak_2_at_CHGA_5end
chr14 93389079 93389083 CAGE_peak_24_at_CHGA_5end
chr14 93389287 93389311 CAGE_peak_5_at_CHGA_5end
chr14 93389488 93389501 CAGE_peak_1_at_CHGA_5end
chr14 93397768 93397779 CAGE_peak_4_at_CHGA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I087213 87213053 87215032 1.03 [{'connected_gene': 'SMIM8', 'score': 14.55}, {'connected_gene': 'LINC01590', 'score': 13.25}, {'connected_gene': 'CGA', 'score': 10.62}, {'connected_gene': 'SLC35A1', 'score': 8.49}, {'connected_gene': 'ORC3', 'score': 4.59}, {'connected_gene': 'GC06P087226', 'score': 0.39}, {'connected_gene': 'LOC100418923', 'score': 0.28}, {'connected_gene': 'ZNF292', 'score': 0.21}]
chr14 GH14I092962 92962030 92965925 0.72 [{'connected_gene': 'BTBD7', 'score': 15.3}, {'connected_gene': 'ATXN3', 'score': 12.97}, {'connected_gene': 'TRIP11', 'score': 12.27}, {'connected_gene': 'CHGA', 'score': 11.49}, {'connected_gene': 'ITPK1', 'score': 5.3}, {'connected_gene': 'PIR52280', 'score': 0.31}, {'connected_gene': 'GC14P093068', 'score': 0.15}, {'connected_gene': 'ITPK1-AS1', 'score': 0.15}]
chr14 GH14I093027 93027320 93030569 0.46 [{'connected_gene': 'ITPK1-AS1', 'score': 12.03}, {'connected_gene': 'CHGA', 'score': 10.63}, {'connected_gene': 'ITPK1', 'score': 5.18}, {'connected_gene': 'GC14P093068', 'score': 0.28}, {'connected_gene': 'PIR52280', 'score': 0.16}]
chr14 GH14I093030 93030979 93038428 1.37 [{'connected_gene': 'ITPK1-AS1', 'score': 12.57}, {'connected_gene': 'CHGA', 'score': 10.62}, {'connected_gene': 'ITPK1', 'score': 5.24}, {'connected_gene': 'GC14P093068', 'score': 0.29}, {'connected_gene': 'PIR52280', 'score': 0.15}]
chr14 GH14I093031 93030872 93030945 0.51 [{'connected_gene': 'ITPK1-AS1', 'score': 12.03}, {'connected_gene': 'CHGA', 'score': 10.63}, {'connected_gene': 'GC14P093068', 'score': 0.28}, {'connected_gene': 'ITPK1', 'score': 0.17}, {'connected_gene': 'PIR52280', 'score': 0.16}]
chr14 GH14I093132 93132556 93134514 1.2 [{'connected_gene': 'TMEM251', 'score': 11.22}, {'connected_gene': 'MOAP1', 'score': 11.22}, {'connected_gene': 'CHGA', 'score': 10.7}, {'connected_gene': 'ITPK1', 'score': 9.7}, {'connected_gene': 'CYB5AP3', 'score': 0.77}, {'connected_gene': 'GC14P093119', 'score': 0.39}]
chr14 GH14I093135 93135076 93136272 0.9 [{'connected_gene': 'TMEM251', 'score': 11.18}, {'connected_gene': 'MOAP1', 'score': 11.18}, {'connected_gene': 'CHGA', 'score': 10.85}, {'connected_gene': 'ITPK1', 'score': 5.24}, {'connected_gene': 'CYB5AP3', 'score': 0.77}, {'connected_gene': 'GC14P093119', 'score': 0.37}]
chr14 GH14I092846 92846400 92847800 1.36 [{'connected_gene': 'TMEM251', 'score': 35.85}, {'connected_gene': 'CHGA', 'score': 11.46}, {'connected_gene': 'UNC79', 'score': 6.67}, {'connected_gene': 'RIN3', 'score': 5.24}, {'connected_gene': 'MOAP1', 'score': 3.8}, {'connected_gene': 'BTBD7', 'score': 2.75}, {'connected_gene': 'GON7', 'score': 1.73}, {'connected_gene': 'GC14P092879', 'score': 0.29}, {'connected_gene': 'GC14P092880', 'score': 0.29}, {'connected_gene': 'GC14P092878', 'score': 0.29}, {'connected_gene': 'PIR36925', 'score': 0.29}, {'connected_gene': 'GOLGA5', 'score': 0.23}, {'connected_gene': 'GC14P092353', 'score': 0.04}]
chr6 GH06I087151 87151224 87157576 2.33 [{'connected_gene': 'ZNF292', 'score': 661.34}, {'connected_gene': 'ENSG00000272008', 'score': 561.94}, {'connected_gene': 'RARS2', 'score': 80.78}, {'connected_gene': 'SLC35A1', 'score': 33.99}, {'connected_gene': 'LINC01590', 'score': 23.23}, {'connected_gene': 'ORC3', 'score': 19.24}, {'connected_gene': 'SMIM8', 'score': 14.47}, {'connected_gene': 'CGA', 'score': 10.4}, {'connected_gene': 'C6orf163', 'score': 9.98}]
chr6 GH06I087095 87095095 87095154 1.09 [{'connected_gene': 'CGA', 'score': 550.77}, {'connected_gene': 'LINC01590', 'score': 12.98}, {'connected_gene': 'RN7SKP209', 'score': 0.39}]
chr14 GH14I092818 92818906 92821574 0.2 [{'connected_gene': 'CHGA', 'score': 10.6}, {'connected_gene': 'CPSF2', 'score': 5.14}, {'connected_gene': 'GOLGA5', 'score': 5.13}, {'connected_gene': 'GC14P092879', 'score': 0.22}, {'connected_gene': 'GC14P092880', 'score': 0.22}, {'connected_gene': 'GC14P092878', 'score': 0.22}, {'connected_gene': 'PIR36925', 'score': 0.22}, {'connected_gene': 'GC14P092353', 'score': 0.04}]
chr6 GH06I087139 87139363 87139492 0.72 [{'connected_gene': 'CGA', 'score': 11.13}, {'connected_gene': 'PIR41626', 'score': 0.44}, {'connected_gene': 'RCN1P1', 'score': 0.37}]
chr14 GH14I093038 93038536 93058338 1.72 [{'connected_gene': 'CHGA', 'score': 10.92}, {'connected_gene': 'GOLGA5', 'score': 10.41}, {'connected_gene': 'ITPK1', 'score': 5.71}, {'connected_gene': 'GC14P093068', 'score': 0.37}, {'connected_gene': 'ITPK1-AS1', 'score': 0.37}, {'connected_gene': 'PIR52280', 'score': 0.14}]
chr14 GH14I092849 92849056 92849245 0.49 [{'connected_gene': 'CHGA', 'score': 10.58}, {'connected_gene': 'GC14P092878', 'score': 0.31}, {'connected_gene': 'GC14P092879', 'score': 0.31}, {'connected_gene': 'PIR36925', 'score': 0.31}, {'connected_gene': 'GC14P092880', 'score': 0.31}, {'connected_gene': 'GOLGA5', 'score': 0.23}, {'connected_gene': 'GC14P092353', 'score': 0.04}]
chr14 GH14I093018 93018159 93020644 1.13 [{'connected_gene': 'CHGA', 'score': 11.03}, {'connected_gene': 'ITPK1', 'score': 8.09}, {'connected_gene': 'GC14P093068', 'score': 0.25}, {'connected_gene': 'ITPK1-AS1', 'score': 0.25}, {'connected_gene': 'PIR52280', 'score': 0.18}]
chr14 GH14I093081 93081477 93082833 1.09 [{'connected_gene': 'CHGA', 'score': 10.28}, {'connected_gene': 'ITPK1', 'score': 5.4}, {'connected_gene': 'GC14P093068', 'score': 0.39}, {'connected_gene': 'ITPK1-AS1', 'score': 0.39}]
chr14 GH14I092989 92989157 92991779 0.72 [{'connected_gene': 'CHGA', 'score': 10.85}, {'connected_gene': 'ITPK1', 'score': 5.91}, {'connected_gene': 'PIR52280', 'score': 0.23}, {'connected_gene': 'GC14P093068', 'score': 0.18}, {'connected_gene': 'ITPK1-AS1', 'score': 0.18}]
chr14 GH14I093022 93022676 93025286 1.08 [{'connected_gene': 'CHGA', 'score': 10.2}, {'connected_gene': 'ITPK1', 'score': 5.16}, {'connected_gene': 'GC14P093068', 'score': 0.26}, {'connected_gene': 'ITPK1-AS1', 'score': 0.26}, {'connected_gene': 'PIR52280', 'score': 0.17}]
chr14 GH14I092991 92991885 92992585 0.2 [{'connected_gene': 'CHGA', 'score': 10.85}, {'connected_gene': 'ITPK1', 'score': 6.01}, {'connected_gene': 'PIR52280', 'score': 0.23}, {'connected_gene': 'GC14P093068', 'score': 0.18}, {'connected_gene': 'ITPK1-AS1', 'score': 0.18}]
chr14 GH14I093096 93096601 93096800 0.4 [{'connected_gene': 'CHGA', 'score': 10.31}, {'connected_gene': 'ITPK1', 'score': 0.37}, {'connected_gene': 'GC14P093068', 'score': 0.31}, {'connected_gene': 'ITPK1-AS1', 'score': 0.31}]
chr14 GH14I093169 93169636 93170032 0.49 [{'connected_gene': 'CHGA', 'score': 10.39}, {'connected_gene': 'COX8C', 'score': 9.74}, {'connected_gene': 'ITPK1', 'score': 8.42}, {'connected_gene': 'MOAP1', 'score': 0.37}, {'connected_gene': 'ENSG00000258595', 'score': 0.29}]
chr14 GH14I092950 92950240 92950876 0.2 [{'connected_gene': 'CHGA', 'score': 11.54}, {'connected_gene': 'PIR52280', 'score': 0.39}, {'connected_gene': 'GC14P093068', 'score': 0.13}, {'connected_gene': 'ITPK1-AS1', 'score': 0.13}, {'connected_gene': 'ITPK1', 'score': 0.1}]
chr14 GH14I093020 93020848 93021194 0.4 [{'connected_gene': 'CHGA', 'score': 11.03}, {'connected_gene': 'GC14P093068', 'score': 0.25}, {'connected_gene': 'ITPK1-AS1', 'score': 0.25}, {'connected_gene': 'PIR52280', 'score': 0.18}, {'connected_gene': 'ITPK1', 'score': 0.15}]
chr14 GH14I092954 92954069 92956307 0.31 [{'connected_gene': 'CHGA', 'score': 11.52}, {'connected_gene': 'ENSG00000258742', 'score': 5.91}, {'connected_gene': 'PIR52280', 'score': 0.37}, {'connected_gene': 'GC14P093068', 'score': 0.14}, {'connected_gene': 'ITPK1-AS1', 'score': 0.14}, {'connected_gene': 'ITPK1', 'score': 0.1}]
chr14 GH14I092992 92992730 92994911 1.06 [{'connected_gene': 'CHGA', 'score': 10.84}, {'connected_gene': 'PIR52280', 'score': 0.22}, {'connected_gene': 'GC14P093068', 'score': 0.19}, {'connected_gene': 'ITPK1-AS1', 'score': 0.19}, {'connected_gene': 'ITPK1', 'score': 0.13}]
chr14 GH14I092952 92952216 92952365 1 [{'connected_gene': 'CHGA', 'score': 11.54}, {'connected_gene': 'PIR52280', 'score': 0.39}, {'connected_gene': 'GC14P093068', 'score': 0.13}, {'connected_gene': 'ITPK1-AS1', 'score': 0.13}, {'connected_gene': 'ITPK1', 'score': 0.1}]
chr14 GH14I092946 92946376 92946585 1.05 [{'connected_gene': 'CHGA', 'score': 11.14}, {'connected_gene': 'PIR52280', 'score': 0.44}, {'connected_gene': 'GC14P093068', 'score': 0.13}, {'connected_gene': 'ITPK1-AS1', 'score': 0.13}, {'connected_gene': 'ITPK1', 'score': 0.1}]
chr14 GH14I092951 92951996 92952185 1.02 [{'connected_gene': 'CHGA', 'score': 11.54}, {'connected_gene': 'PIR52280', 'score': 0.39}, {'connected_gene': 'GC14P093068', 'score': 0.13}, {'connected_gene': 'ITPK1-AS1', 'score': 0.13}, {'connected_gene': 'ITPK1', 'score': 0.1}]
chr14 GH14I092960 92960482 92961764 0.46 [{'connected_gene': 'CHGA', 'score': 11.46}, {'connected_gene': 'PIR52280', 'score': 0.34}, {'connected_gene': 'GC14P093068', 'score': 0.14}, {'connected_gene': 'ITPK1-AS1', 'score': 0.14}, {'connected_gene': 'ITPK1', 'score': 0.1}]
chr14 GH14I093023 93022019 93022567 0.38 [{'connected_gene': 'CHGA', 'score': 10.2}, {'connected_gene': 'GC14P093068', 'score': 0.25}, {'connected_gene': 'ITPK1-AS1', 'score': 0.25}, {'connected_gene': 'PIR52280', 'score': 0.18}, {'connected_gene': 'ITPK1', 'score': 0.16}]
chr14 GH14I092956 92956948 92958035 0.2 [{'connected_gene': 'CHGA', 'score': 11.52}, {'connected_gene': 'ENSG00000258742', 'score': 5.83}, {'connected_gene': 'PIR52280', 'score': 0.37}, {'connected_gene': 'GC14P093068', 'score': 0.14}, {'connected_gene': 'ITPK1-AS1', 'score': 0.14}, {'connected_gene': 'ITPK1', 'score': 0.1}]
chr14 GH14I092958 92958756 92959982 0.63 [{'connected_gene': 'CHGA', 'score': 11.51}, {'connected_gene': 'ENSG00000258742', 'score': 6.34}, {'connected_gene': 'PIR52280', 'score': 0.34}, {'connected_gene': 'GC14P093068', 'score': 0.14}, {'connected_gene': 'ITPK1-AS1', 'score': 0.14}, {'connected_gene': 'ITPK1', 'score': 0.1}]
chr14 GH14I092953 92952416 92952565 0.72 [{'connected_gene': 'CHGA', 'score': 11.54}, {'connected_gene': 'PIR52280', 'score': 0.39}, {'connected_gene': 'GC14P093068', 'score': 0.14}, {'connected_gene': 'ITPK1-AS1', 'score': 0.14}, {'connected_gene': 'ITPK1', 'score': 0.1}]
chr14 GH14I092995 92995044 92996119 0.43 [{'connected_gene': 'CHGA', 'score': 10.99}, {'connected_gene': 'TMEM251', 'score': 10.3}, {'connected_gene': 'MOAP1', 'score': 10.3}, {'connected_gene': 'PIR52280', 'score': 0.22}, {'connected_gene': 'GC14P093068', 'score': 0.19}, {'connected_gene': 'ITPK1-AS1', 'score': 0.19}, {'connected_gene': 'ITPK1', 'score': 0.13}]
chr6 GH06I087088 87088192 87088251 0.86 [{'connected_gene': 'CGA', 'score': 550.44}, {'connected_gene': 'SLC35A1', 'score': 10.04}, {'connected_gene': 'RN7SKP209', 'score': 0.77}]
chr6 GH06I087093 87093341 87094778 0.64 [{'connected_gene': 'CGA', 'score': 550.77}, {'connected_gene': 'SLC35A1', 'score': 8.32}, {'connected_gene': 'RN7SKP209', 'score': 0.39}]
chr14 GH14I092920 92920468 92921235 0.31 [{'connected_gene': 'CHGA', 'score': 555.53}, {'connected_gene': 'LINC02287', 'score': 0.39}]
chr14 GH14I092916 92916687 92918763 0.67 [{'connected_gene': 'CHGA', 'score': 5.3}, {'connected_gene': 'LINC02287', 'score': 0.39}]
chr6 GH06I087211 87211143 87211292 0.52 [{'connected_gene': 'CGA', 'score': 10.62}, {'connected_gene': 'GC06P087226', 'score': 0.37}, {'connected_gene': 'LOC100418923', 'score': 0.28}, {'connected_gene': 'ZNF292', 'score': 0.22}]
chr14 GH14I092926 92926209 92927485 0.79 [{'connected_gene': 'CHGA', 'score': 0.77}, {'connected_gene': 'PIR52280', 'score': 0.39}]
chr14 GH14I092922 92922148 92924918 1.82 [{'connected_gene': 'CHGA', 'score': 558.02}, {'connected_gene': 'PIR52280', 'score': 0.39}]
chr6 GH06I087212 87212201 87212400 0.2 [{'connected_gene': 'SLC35A1', 'score': 15.07}, {'connected_gene': 'CGA', 'score': 10.62}, {'connected_gene': 'LINC01590', 'score': 5.87}, {'connected_gene': 'GC06P087226', 'score': 0.39}, {'connected_gene': 'LOC100418923', 'score': 0.28}, {'connected_gene': 'ZNF292', 'score': 0.22}]
chr6 GH06I087091 87091271 87091489 0.34 [{'connected_gene': 'SLC35A1', 'score': 12.2}, {'connected_gene': 'CGA', 'score': 6.25}, {'connected_gene': 'RN7SKP209', 'score': 0.44}]
chr14 GH14I092931 92931130 92935196 0.54 [{'connected_gene': 'LINC02287', 'score': 5.41}, {'connected_gene': 'PIR52280', 'score': 0.44}, {'connected_gene': 'CHGA', 'score': 0.39}]
chr14 GH14I093137 93137772 93138651 0.8 [{'connected_gene': 'ENSG00000258595', 'score': 550.77}, {'connected_gene': 'CYB5AP3', 'score': 550.77}, {'connected_gene': 'ITPK1', 'score': 12.46}, {'connected_gene': 'TMEM251', 'score': 11.18}, {'connected_gene': 'MOAP1', 'score': 11.18}, {'connected_gene': 'CHGA', 'score': 10.86}]
chr14 GH14I092937 92937756 92937985 0.63 [{'connected_gene': 'PIR52280', 'score': 550.77}, {'connected_gene': 'CHGA', 'score': 0.37}, {'connected_gene': 'ITPK1', 'score': 0.1}]
chr14 GH14I092927 92927821 92930807 0.46 [{'connected_gene': 'PIR52280', 'score': 0.44}, {'connected_gene': 'CHGA', 'score': 0.44}]

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