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
ENST00000551606 [[105452111, 105452215], [105455279, 105455425], [105457827, 105457957], [105459284, 105459401], [105460934, 105461227]] [[105452111, 105452215], [105455279, 105455425], [105457827, 105457957], [105459284, 105459401], [105460934, 105461096]]
ENST00000551046 [[105452125, 105452215], [105455279, 105455425], [105455968, 105456049]] None
ENST00000547315 [[105452129, 105453191], [105455279, 105455425], [105457827, 105457957], [105459284, 105459401], [105460934, 105461849]] [[105452768, 105453191], [105455279, 105455425], [105457827, 105457957], [105459284, 105459401], [105460934, 105461096]]
ENST00000389964 [[105452615, 105453191], [105455279, 105455425], [105455968, 105456044], [105457827, 105457957], [105459284, 105459401], [105460934, 105461851]] [[105452768, 105453191], [105455279, 105455425], [105455968, 105455993]]
ENST00000548641 [[105452672, 105453191], [105455279, 105455411], [105457827, 105457957], [105459284, 105459401], [105460934, 105461681]] [[105452768, 105453191], [105455279, 105455411], [105457827, 105457830]]
ENST00000549584 [[105453032, 105453191], [105455279, 105455425], [105457827, 105457957], [105459284, 105459401], [105465557, 105465864]] None
ENST00000550614 [[105455300, 105456044], [105457827, 105457957], [105459284, 105459401], [105460934, 105461855]] [[105459311, 105459401], [105460934, 105461096]]
ENST00000549240 [[105456176, 105457957], [105459284, 105459401], [105460934, 105461539]] [[105459311, 105459401], [105460934, 105461096]]
ENST00000548178 [[105457858, 105457957], [105459284, 105459401], [105476570, 105476819]] None
Promoter
Chrom Start End Description
chr14 105452094 105452152 CAGE_peak_1_at_C14orf79_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I105688 105688678 105692219 1.1 [{'connected_gene': 'MTA1', 'score': 100.34}, {'connected_gene': 'ENSG00000257270', 'score': 52.28}, {'connected_gene': 'CDCA4', 'score': 27.04}, {'connected_gene': 'ENSG00000225200', 'score': 21.04}, {'connected_gene': 'LINC00638', 'score': 19.94}, {'connected_gene': 'TMEM121', 'score': 18.1}, {'connected_gene': 'CLBA1', 'score': 10.67}, {'connected_gene': 'PACS2', 'score': 10.41}, {'connected_gene': 'AKT1', 'score': 10.12}, {'connected_gene': 'BRF1', 'score': 9.92}, {'connected_gene': 'CRIP2', 'score': 5.04}, {'connected_gene': 'IGHV3-48', 'score': 4.8}, {'connected_gene': 'IGHV3-15', 'score': 4.74}, {'connected_gene': 'LOC105378185', 'score': 0.39}, {'connected_gene': 'IGHA1', 'score': 0.37}]
chr14 GH14I104979 104979139 104983186 1.17 [{'connected_gene': 'MTA1', 'score': 144.73}, {'connected_gene': 'ENSG00000257270', 'score': 67.23}, {'connected_gene': 'CDCA4', 'score': 33.6}, {'connected_gene': 'CLBA1', 'score': 28.11}, {'connected_gene': 'IGHGP', 'score': 14.67}, {'connected_gene': 'ENSG00000225200', 'score': 12.73}, {'connected_gene': 'TMEM121', 'score': 12.49}, {'connected_gene': 'RPS20P33', 'score': 11.8}, {'connected_gene': 'PACS2', 'score': 10.42}, {'connected_gene': 'AKT1', 'score': 10.18}, {'connected_gene': 'AHNAK2', 'score': 6.08}, {'connected_gene': 'CRIP2', 'score': 4.34}]
chr14 GH14I105329 105329746 105331001 0.94 [{'connected_gene': 'MTA1', 'score': 17.32}, {'connected_gene': 'BRF1', 'score': 11.07}, {'connected_gene': 'CLBA1', 'score': 10.2}, {'connected_gene': 'LINC00638', 'score': 9.94}, {'connected_gene': 'ENSG00000257270', 'score': 9.83}, {'connected_gene': 'IGHG4', 'score': 6.21}, {'connected_gene': 'PACS2', 'score': 0.31}, {'connected_gene': 'ENSG00000279495', 'score': 0.26}]
chr14 GH14I104823 104823978 104824359 0.61 [{'connected_gene': 'MTA1', 'score': 29.19}, {'connected_gene': 'CEP170B', 'score': 11.28}, {'connected_gene': 'ENSG00000257270', 'score': 11.22}, {'connected_gene': 'PPP1R13B', 'score': 11.09}, {'connected_gene': 'LINC00638', 'score': 10.96}, {'connected_gene': 'ADSSL1', 'score': 10.56}, {'connected_gene': 'CLBA1', 'score': 9.78}, {'connected_gene': 'GPR132', 'score': 7.71}, {'connected_gene': 'RPS26P49', 'score': 0.44}]
chr14 GH14I105617 105617444 105617533 0.85 [{'connected_gene': 'MTA1', 'score': 24.22}, {'connected_gene': 'ENSG00000257270', 'score': 22.7}, {'connected_gene': 'ENSG00000225200', 'score': 12.76}, {'connected_gene': 'LINC00638', 'score': 11.45}, {'connected_gene': 'CLBA1', 'score': 10.67}, {'connected_gene': 'AKT1', 'score': 10.12}, {'connected_gene': 'CDCA4', 'score': 9.97}, {'connected_gene': 'MIR8071-1', 'score': 0.77}, {'connected_gene': 'IGHE', 'score': 0.37}]
chr14 GH14I105247 105247652 105250379 2.08 [{'connected_gene': 'BTBD6', 'score': 564.29}, {'connected_gene': 'BRF1', 'score': 560.88}, {'connected_gene': 'PIR36562', 'score': 550.77}, {'connected_gene': 'GC14P105251', 'score': 550.77}, {'connected_gene': 'GC14P105252', 'score': 550.77}, {'connected_gene': 'MTA1', 'score': 17.25}, {'connected_gene': 'CLBA1', 'score': 10.21}, {'connected_gene': 'LINC00638', 'score': 9.96}, {'connected_gene': 'ENSG00000257270', 'score': 9.79}]
chr14 GH14I105254 105254845 105255757 0.31 [{'connected_gene': 'BTBD6', 'score': 14.14}, {'connected_gene': 'PACS2', 'score': 11.99}, {'connected_gene': 'BRF1', 'score': 11.95}, {'connected_gene': 'NUDT14', 'score': 11.35}, {'connected_gene': 'JAG2', 'score': 11.32}, {'connected_gene': 'CLBA1', 'score': 10.11}, {'connected_gene': 'PLD4', 'score': 9.87}, {'connected_gene': 'GC14P105252', 'score': 0.77}]
chr14 GH14I105252 105252566 105253779 0.43 [{'connected_gene': 'BTBD6', 'score': 13.97}, {'connected_gene': 'PACS2', 'score': 11.99}, {'connected_gene': 'BRF1', 'score': 11.95}, {'connected_gene': 'NUDT14', 'score': 11.35}, {'connected_gene': 'JAG2', 'score': 11.33}, {'connected_gene': 'CLBA1', 'score': 10.11}, {'connected_gene': 'PLD4', 'score': 9.87}, {'connected_gene': 'GC14P105252', 'score': 0.77}]
chr14 GH14I105275 105275213 105277600 0.58 [{'connected_gene': 'BTBD6', 'score': 13.43}, {'connected_gene': 'PACS2', 'score': 12.07}, {'connected_gene': 'BRF1', 'score': 12.0}, {'connected_gene': 'NUDT14', 'score': 11.24}, {'connected_gene': 'JAG2', 'score': 11.23}, {'connected_gene': 'CLBA1', 'score': 10.19}, {'connected_gene': 'GC14P105252', 'score': 0.31}]
chr14 GH14I105270 105270931 105272013 0.38 [{'connected_gene': 'BTBD6', 'score': 13.85}, {'connected_gene': 'PACS2', 'score': 12.04}, {'connected_gene': 'BRF1', 'score': 11.99}, {'connected_gene': 'NUDT14', 'score': 11.24}, {'connected_gene': 'JAG2', 'score': 11.23}, {'connected_gene': 'CLBA1', 'score': 10.19}, {'connected_gene': 'GC14P105252', 'score': 0.34}]
chr14 GH14I105273 105273044 105273193 0.8 [{'connected_gene': 'BTBD6', 'score': 13.71}, {'connected_gene': 'PACS2', 'score': 12.04}, {'connected_gene': 'BRF1', 'score': 11.99}, {'connected_gene': 'NUDT14', 'score': 11.24}, {'connected_gene': 'JAG2', 'score': 11.23}, {'connected_gene': 'CLBA1', 'score': 10.19}, {'connected_gene': 'GC14P105252', 'score': 0.34}]
chr14 GH14I105013 105013964 105028753 2.47 [{'connected_gene': 'CDCA4', 'score': 560.8}, {'connected_gene': 'CLBA1', 'score': 36.44}, {'connected_gene': 'GPR132', 'score': 14.22}, {'connected_gene': 'AHNAK2', 'score': 12.01}, {'connected_gene': 'PIR49972', 'score': 0.77}, {'connected_gene': 'GC14P105029', 'score': 0.44}]
chr14 GH14I105068 105068764 105071613 1.54 [{'connected_gene': 'GPR132', 'score': 60.18}, {'connected_gene': 'JAG2', 'score': 11.52}, {'connected_gene': 'NUDT14', 'score': 11.5}, {'connected_gene': 'CLBA1', 'score': 11.39}, {'connected_gene': 'CRIP1', 'score': 1.11}, {'connected_gene': 'LINC02298', 'score': 0.34}]
chr14 GH14I105074 105074082 105077075 1.43 [{'connected_gene': 'GPR132', 'score': 23.91}, {'connected_gene': 'CLBA1', 'score': 16.53}, {'connected_gene': 'JAG2', 'score': 11.52}, {'connected_gene': 'NUDT14', 'score': 11.51}, {'connected_gene': 'LINC02298', 'score': 8.16}, {'connected_gene': 'PLD4', 'score': 2.07}, {'connected_gene': 'CRIP1', 'score': 1.31}]
chr14 GH14I105031 105031850 105034962 1.46 [{'connected_gene': 'GPR132', 'score': 26.12}, {'connected_gene': 'CLBA1', 'score': 14.35}, {'connected_gene': 'CRIP1', 'score': 1.52}, {'connected_gene': 'GC14P105029', 'score': 0.77}, {'connected_gene': 'GC14P105040', 'score': 0.44}]
chr14 GH14I105058 105058161 105068209 2.38 [{'connected_gene': 'GPR132', 'score': 571.89}, {'connected_gene': 'AHNAK2', 'score': 12.35}, {'connected_gene': 'CDCA4', 'score': 11.61}, {'connected_gene': 'JAG2', 'score': 10.94}, {'connected_gene': 'NUDT14', 'score': 10.93}, {'connected_gene': 'CLBA1', 'score': 6.94}, {'connected_gene': 'TEDC1', 'score': 1.84}, {'connected_gene': 'PLD4', 'score': 1.72}, {'connected_gene': 'BRF1', 'score': 1.59}, {'connected_gene': 'GC14P105040', 'score': 0.34}]
chr14 GH14I105086 105086401 105089302 1.41 [{'connected_gene': 'GPR132', 'score': 16.45}, {'connected_gene': 'RPS20P33', 'score': 11.81}, {'connected_gene': 'LINC02298', 'score': 9.86}, {'connected_gene': 'CLBA1', 'score': 5.15}]
chr14 GH14I105898 105898115 105898845 0.2 [{'connected_gene': 'IGHD2-15', 'score': 550.77}, {'connected_gene': 'CLBA1', 'score': 5.31}, {'connected_gene': 'IGHD1-14', 'score': 0.77}, {'connected_gene': 'IGH', 'score': 0.02}]
chr14 GH14I105912 105912500 105913425 0.2 [{'connected_gene': 'IGHD4-4', 'score': 550.77}, {'connected_gene': 'IGHD5-5', 'score': 550.77}, {'connected_gene': 'IGHD3-3', 'score': 550.77}, {'connected_gene': 'CLBA1', 'score': 5.14}, {'connected_gene': 'GC14P105910', 'score': 0.77}, {'connected_gene': 'IGH', 'score': 0.03}]
chr14 GH14I105909 105909001 105909400 0.4 [{'connected_gene': 'IGHD6-6', 'score': 550.77}, {'connected_gene': 'GC14P105910', 'score': 550.77}, {'connected_gene': 'IGHD2-8', 'score': 550.77}, {'connected_gene': 'IGHD1-7', 'score': 550.77}, {'connected_gene': 'CLBA1', 'score': 5.65}, {'connected_gene': 'IGH', 'score': 0.02}]
chr14 GH14I105899 105899446 105902634 0.54 [{'connected_gene': 'IGHD6-13', 'score': 550.77}, {'connected_gene': 'IGHD5-12', 'score': 550.77}, {'connected_gene': 'IGHD1-14', 'score': 550.77}, {'connected_gene': 'CLBA1', 'score': 5.66}, {'connected_gene': 'IGH', 'score': 0.02}]
chr14 GH14I105849 105849380 105850672 0.38 [{'connected_gene': 'IGHV4-59', 'score': 5.09}, {'connected_gene': 'CLBA1', 'score': 4.8}, {'connected_gene': 'IGHD', 'score': 0.77}, {'connected_gene': 'IGHM', 'score': 0.44}]
chr14 GH14I105479 105479424 105492583 2.33 [{'connected_gene': 'CRIP1', 'score': 550.77}, {'connected_gene': 'TEDC1', 'score': 550.77}, {'connected_gene': 'ENSG00000257341', 'score': 550.77}, {'connected_gene': 'MTA1', 'score': 51.04}, {'connected_gene': 'ENSG00000257270', 'score': 15.42}, {'connected_gene': 'CDCA4', 'score': 12.98}, {'connected_gene': 'GPR132', 'score': 11.05}, {'connected_gene': 'ENSG00000258811', 'score': 10.29}, {'connected_gene': 'LINC02298', 'score': 9.88}, {'connected_gene': 'TMEM121', 'score': 7.66}, {'connected_gene': 'CLBA1', 'score': 4.61}, {'connected_gene': 'CRIP2', 'score': 0.39}]
chr14 GH14I105257 105257217 105258179 0.51 [{'connected_gene': 'PACS2', 'score': 12.01}, {'connected_gene': 'BRF1', 'score': 11.97}, {'connected_gene': 'NUDT14', 'score': 11.34}, {'connected_gene': 'JAG2', 'score': 11.32}, {'connected_gene': 'CLBA1', 'score': 10.11}, {'connected_gene': 'PLD4', 'score': 9.87}, {'connected_gene': 'GC14P105252', 'score': 0.44}]
chr14 GH14I105470 105470300 105478333 2.17 [{'connected_gene': 'CRIP2', 'score': 550.77}, {'connected_gene': 'MTA1', 'score': 17.39}, {'connected_gene': 'ENSG00000257270', 'score': 13.91}, {'connected_gene': 'BRF1', 'score': 10.78}, {'connected_gene': 'CLBA1', 'score': 10.19}, {'connected_gene': 'LINC00638', 'score': 9.94}, {'connected_gene': 'ENSG00000258811', 'score': 5.07}, {'connected_gene': 'TMEM121', 'score': 4.96}, {'connected_gene': 'CRIP1', 'score': 0.39}]
chr14 GH14I104924 104924401 104927400 1.48 [{'connected_gene': 'PLD4', 'score': 550.77}, {'connected_gene': 'CLBA1', 'score': 8.79}, {'connected_gene': 'CEP170B', 'score': 4.84}, {'connected_gene': 'GC14P104934', 'score': 0.44}, {'connected_gene': 'GC14P104932', 'score': 0.44}]
chr14 GH14I105045 105045384 105046737 1.37 [{'connected_gene': 'CLBA1', 'score': 7.1}, {'connected_gene': 'GC14P105040', 'score': 0.44}, {'connected_gene': 'GPR132', 'score': 0.37}]
chr14 GH14I104991 104991605 104992370 0.46 [{'connected_gene': 'CLBA1', 'score': 20.54}, {'connected_gene': 'GPR132', 'score': 7.08}, {'connected_gene': 'PIR35430', 'score': 0.39}]
chr14 GH14I104992 104992966 104995825 0.46 [{'connected_gene': 'CLBA1', 'score': 23.23}, {'connected_gene': 'GPR132', 'score': 7.2}, {'connected_gene': 'PIR35430', 'score': 0.39}]
chr14 GH14I104935 104935924 104936073 0.31 [{'connected_gene': 'CLBA1', 'score': 10.88}, {'connected_gene': 'GC14P104934', 'score': 0.77}, {'connected_gene': 'GC14P104932', 'score': 0.77}, {'connected_gene': 'PLD4', 'score': 0.39}, {'connected_gene': 'PIR62568', 'score': 0.31}]
chr14 GH14I105012 105012364 105012513 0.52 [{'connected_gene': 'CLBA1', 'score': 12.76}, {'connected_gene': 'AHNAK2', 'score': 12.04}, {'connected_gene': 'PIR49972', 'score': 0.44}, {'connected_gene': 'PIR35430', 'score': 0.44}, {'connected_gene': 'CDCA4', 'score': 0.44}]
chr14 GH14I104984 104984233 104986923 2.11 [{'connected_gene': 'CLBA1', 'score': 576.51}, {'connected_gene': 'AHNAK2', 'score': 10.68}, {'connected_gene': 'GPR132', 'score': 6.25}, {'connected_gene': 'CRIP2', 'score': 4.81}]
chr14 GH14I104966 104966317 104978601 2.72 [{'connected_gene': 'AHNAK2', 'score': 562.29}, {'connected_gene': 'MTA1', 'score': 28.79}, {'connected_gene': 'CLBA1', 'score': 24.91}, {'connected_gene': 'BRF1', 'score': 10.73}, {'connected_gene': 'CDCA4', 'score': 10.05}, {'connected_gene': 'LINC00638', 'score': 10.02}, {'connected_gene': 'ENSG00000257270', 'score': 9.76}, {'connected_gene': 'GPR132', 'score': 6.61}, {'connected_gene': 'IGHE', 'score': 4.15}, {'connected_gene': 'CEP170B', 'score': 2.66}, {'connected_gene': 'INF2', 'score': 2.44}, {'connected_gene': 'JAG2', 'score': 1.76}, {'connected_gene': 'PIR62568', 'score': 0.44}]
chr14 GH14I104978 104978678 104978693 0.69 [{'connected_gene': 'AHNAK2', 'score': 550.77}, {'connected_gene': 'CLBA1', 'score': 0.44}]
chr14 GH14I104784 104784178 104785375 0.56 [{'connected_gene': 'SIVA1', 'score': 11.94}, {'connected_gene': 'PPP1R13B', 'score': 11.09}, {'connected_gene': 'CLBA1', 'score': 9.77}, {'connected_gene': 'ZBTB42', 'score': 4.66}, {'connected_gene': 'AKT1', 'score': 0.39}, {'connected_gene': 'ENSG00000258430', 'score': 0.37}]
chr14 GH14I105888 105888347 105893357 0.52 [{'connected_gene': 'ENSG00000244620', 'score': 550.77}, {'connected_gene': 'IGHD1-20', 'score': 550.77}, {'connected_gene': 'IGHD6-19', 'score': 550.77}, {'connected_gene': 'CLBA1', 'score': 4.98}, {'connected_gene': 'IGHV1-69', 'score': 4.02}, {'connected_gene': 'IGHD2-21', 'score': 0.77}, {'connected_gene': 'IGH', 'score': 0.03}]
chr14 GH14I104137 104137264 104139280 2.13 [{'connected_gene': 'GC14P104139', 'score': 550.77}, {'connected_gene': 'KIF26A', 'score': 550.77}, {'connected_gene': 'LOC105370708', 'score': 550.77}, {'connected_gene': 'ENSG00000258748', 'score': 550.77}, {'connected_gene': 'ENSG00000260285', 'score': 11.5}, {'connected_gene': 'CLBA1', 'score': 10.18}, {'connected_gene': 'LINC00638', 'score': 9.94}, {'connected_gene': 'ASPG', 'score': 6.56}]
chr14 GH14I104842 104842925 104845078 0.74 [{'connected_gene': 'ENSG00000258811', 'score': 550.77}, {'connected_gene': 'LINC00638', 'score': 23.83}, {'connected_gene': 'PLD4', 'score': 11.18}, {'connected_gene': 'ADSSL1', 'score': 10.86}, {'connected_gene': 'CEP170B', 'score': 9.06}, {'connected_gene': 'CLBA1', 'score': 5.81}, {'connected_gene': 'ENSG00000258593', 'score': 0.39}]
chr14 GH14I104932 104932824 104934113 1.4 [{'connected_gene': 'GC14P104934', 'score': 550.77}, {'connected_gene': 'GC14P104932', 'score': 550.77}, {'connected_gene': 'CLBA1', 'score': 7.48}, {'connected_gene': 'CEP170B', 'score': 4.88}, {'connected_gene': 'PLD4', 'score': 0.44}, {'connected_gene': 'PIR62568', 'score': 0.29}]
chr14 GH14I104147 104147117 104151149 1.3 [{'connected_gene': 'ENSG00000260285', 'score': 11.49}, {'connected_gene': 'CLBA1', 'score': 10.18}, {'connected_gene': 'LINC00638', 'score': 9.94}, {'connected_gene': 'ATP5MPL', 'score': 6.88}, {'connected_gene': 'KIF26A', 'score': 6.07}, {'connected_gene': 'KLC1', 'score': 6.01}, {'connected_gene': 'ASPG', 'score': 5.03}, {'connected_gene': 'GC14M104153', 'score': 0.77}, {'connected_gene': 'GC14P104139', 'score': 0.44}]

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