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
ENST00000393957 [[67423711, 67424265], [67424381, 67424535], [67424826, 67425020], [67427282, 67427438]] [[67424076, 67424265], [67424381, 67424535], [67424826, 67425014]]
ENST00000564104 [[67423713, 67424265], [67424381, 67424535], [67424826, 67425856]] [[67424076, 67424265], [67424381, 67424535], [67424826, 67425014]]
ENST00000290942 [[67423727, 67424265], [67424381, 67424535], [67424826, 67425020], [67426849, 67426940], [67427282, 67427421]] [[67424076, 67424265], [67424381, 67424535], [67424826, 67425014]]
ENST00000562206 [[67423748, 67424265], [67424381, 67424535], [67424826, 67425020], [67426849, 67427394]] [[67424076, 67424265], [67424381, 67424535], [67424826, 67425014]]
ENST00000561537 [[67424381, 67425020], [67427282, 67427384]] None
NM_016140 [[67423709, 67424265], [67424381, 67424535], [67424826, 67425020], [67426849, 67426940], [67427282, 67427438]] [[67424076, 67424265], [67424381, 67424535], [67424826, 67425014]]
NM_015964 [[67423709, 67424265], [67424381, 67424535], [67424826, 67425020], [67427282, 67427438]] [[67424076, 67424265], [67424381, 67424535], [67424826, 67425014]]
Promoter
Chrom Start End Description
chr16 67425261 67425282 CAGE_peak_2_at_TPPP3_5end
chr16 67427389 67427408 CAGE_peak_1_at_TPPP3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I067400 67400849 67401594 0.58 [{'connected_gene': 'ATP6V0D1', 'score': 12.83}, {'connected_gene': 'TPPP3', 'score': 0.44}, {'connected_gene': 'ZDHHC1', 'score': 0.37}]
chr16 GH16I067401 67401860 67401968 0.44 [{'connected_gene': 'ATP6V0D1', 'score': 7.65}, {'connected_gene': 'TPPP3', 'score': 0.44}, {'connected_gene': 'ZDHHC1', 'score': 0.39}]
chr16 GH16I067345 67345073 67345940 0.2 [{'connected_gene': 'ATP6V0D1', 'score': 16.33}, {'connected_gene': 'RNU1-123P', 'score': 11.66}, {'connected_gene': 'TPPP3', 'score': 11.66}, {'connected_gene': 'PLEKHG4', 'score': 11.57}, {'connected_gene': 'ZDHHC1', 'score': 11.35}, {'connected_gene': 'HSD11B2', 'score': 11.13}, {'connected_gene': 'LRRC36', 'score': 11.05}, {'connected_gene': 'TMEM208', 'score': 10.26}, {'connected_gene': 'LRRC29', 'score': 10.26}, {'connected_gene': 'ELMO3', 'score': 10.11}, {'connected_gene': 'MIR328', 'score': 10.11}]
chr16 GH16I067832 67832314 67834507 2.33 [{'connected_gene': 'CENPT', 'score': 554.88}, {'connected_gene': 'PIR37129', 'score': 550.77}, {'connected_gene': 'EDC4', 'score': 13.07}, {'connected_gene': 'ENSG00000262514', 'score': 12.11}, {'connected_gene': 'ENSG00000263276', 'score': 11.79}, {'connected_gene': 'DUS2', 'score': 11.17}, {'connected_gene': 'NFATC3', 'score': 10.5}, {'connected_gene': 'RANBP10', 'score': 10.39}, {'connected_gene': 'CTCF', 'score': 10.37}, {'connected_gene': 'THAP11', 'score': 10.35}, {'connected_gene': 'FBXL8', 'score': 9.8}, {'connected_gene': 'PRMT7', 'score': 9.75}, {'connected_gene': 'DPEP2', 'score': 9.05}, {'connected_gene': 'TPPP3', 'score': 5.81}, {'connected_gene': 'TSNAXIP1', 'score': 0.31}]
chr16 GH16I067527 67527850 67532282 2.48 [{'connected_gene': 'RIPOR1', 'score': 554.95}, {'connected_gene': 'LOC100505942', 'score': 550.77}, {'connected_gene': 'ZDHHC1', 'score': 21.48}, {'connected_gene': 'NAE1', 'score': 20.42}, {'connected_gene': 'ENKD1', 'score': 20.01}, {'connected_gene': 'C16orf70', 'score': 15.81}, {'connected_gene': 'KIAA0895L', 'score': 14.38}, {'connected_gene': 'ACD', 'score': 13.91}, {'connected_gene': 'ATP6V0D1', 'score': 13.76}, {'connected_gene': 'EDC4', 'score': 12.03}, {'connected_gene': 'PRMT7', 'score': 11.02}, {'connected_gene': 'CENPT', 'score': 10.77}, {'connected_gene': 'SLC7A6OS', 'score': 10.07}, {'connected_gene': 'PSMB10', 'score': 5.71}, {'connected_gene': 'LRRC29', 'score': 4.05}, {'connected_gene': 'DPEP2', 'score': 3.97}, {'connected_gene': 'FHOD1', 'score': 3.25}, {'connected_gene': 'TPPP3', 'score': 2.38}, {'connected_gene': 'DDX28', 'score': 1.68}, {'connected_gene': 'HSF4', 'score': 1.35}, {'connected_gene': 'SLC9A5', 'score': 1.18}, {'connected_gene': 'ENSG00000261396', 'score': 0.39}]
chr16 GH16I067892 67892421 67894990 1.98 [{'connected_gene': 'PSKH1', 'score': 550.77}, {'connected_gene': 'DUS2', 'score': 21.13}, {'connected_gene': 'EDC4', 'score': 11.43}, {'connected_gene': 'PRMT7', 'score': 10.81}, {'connected_gene': 'ENKD1', 'score': 10.12}, {'connected_gene': 'C16orf86', 'score': 10.12}, {'connected_gene': 'DDX28', 'score': 10.02}, {'connected_gene': 'DPEP3', 'score': 10.02}, {'connected_gene': 'PARD6A', 'score': 9.96}, {'connected_gene': 'ACD', 'score': 9.96}, {'connected_gene': 'LCAT', 'score': 9.3}, {'connected_gene': 'DPEP2', 'score': 5.58}, {'connected_gene': 'NFATC3', 'score': 5.27}, {'connected_gene': 'TPPP3', 'score': 3.74}, {'connected_gene': 'CTRL', 'score': 0.28}]
chr16 GH16I067403 67403051 67408161 1.23 [{'connected_gene': 'LRRC36', 'score': 17.03}, {'connected_gene': 'FBXL8', 'score': 15.44}, {'connected_gene': 'E2F4', 'score': 15.01}, {'connected_gene': 'CTCF', 'score': 14.44}, {'connected_gene': 'ENSG00000260465', 'score': 13.6}, {'connected_gene': 'ENSG00000270165', 'score': 13.06}, {'connected_gene': 'HSD11B2', 'score': 11.49}, {'connected_gene': 'RANBP10', 'score': 11.26}, {'connected_gene': 'PLEKHG4', 'score': 10.89}, {'connected_gene': 'EDC4', 'score': 10.46}, {'connected_gene': 'ENSG00000263276', 'score': 10.38}, {'connected_gene': 'ENSG00000262514', 'score': 10.07}, {'connected_gene': 'TMEM208', 'score': 9.83}, {'connected_gene': 'LRRC29', 'score': 9.83}, {'connected_gene': 'ATP6V0D1', 'score': 7.78}, {'connected_gene': 'DPEP2', 'score': 7.35}, {'connected_gene': 'SLC7A6', 'score': 7.09}, {'connected_gene': 'PRMT7', 'score': 5.27}, {'connected_gene': 'TPPP3', 'score': 0.39}, {'connected_gene': 'ZDHHC1', 'score': 0.39}]
chr16 GH16I067362 67362551 67365591 1.06 [{'connected_gene': 'LRRC36', 'score': 17.13}, {'connected_gene': 'TPPP3', 'score': 11.69}, {'connected_gene': 'RNU1-123P', 'score': 11.69}, {'connected_gene': 'PLEKHG4', 'score': 11.34}, {'connected_gene': 'ZDHHC1', 'score': 11.33}, {'connected_gene': 'HSD11B2', 'score': 11.16}, {'connected_gene': 'PRMT7', 'score': 5.51}]
chr16 GH16I067347 67347263 67347322 0.5 [{'connected_gene': 'LRRC36', 'score': 550.34}, {'connected_gene': 'RNU1-123P', 'score': 11.68}, {'connected_gene': 'TPPP3', 'score': 11.66}, {'connected_gene': 'ZDHHC1', 'score': 11.32}, {'connected_gene': 'PLEKHG4', 'score': 11.22}, {'connected_gene': 'HSD11B2', 'score': 11.14}, {'connected_gene': 'ELMO3', 'score': 10.11}, {'connected_gene': 'MIR328', 'score': 10.11}]
chr16 GH16I067799 67799767 67802936 0.87 [{'connected_gene': 'PRMT7', 'score': 11.12}, {'connected_gene': 'DPEP2', 'score': 6.19}, {'connected_gene': 'RIPOR1', 'score': 5.42}, {'connected_gene': 'HSD11B2', 'score': 4.71}, {'connected_gene': 'TPPP3', 'score': 3.85}, {'connected_gene': 'RANBP10', 'score': 0.44}, {'connected_gene': 'ENSG00000270165', 'score': 0.21}]
chr16 GH16I067389 67389216 67400723 2.34 [{'connected_gene': 'TPPP3', 'score': 550.77}, {'connected_gene': 'LRRC36', 'score': 17.05}, {'connected_gene': 'ATP6V0D1', 'score': 14.92}, {'connected_gene': 'FHOD1', 'score': 11.41}, {'connected_gene': 'ZDHHC1', 'score': 11.33}, {'connected_gene': 'HSD11B2', 'score': 11.08}, {'connected_gene': 'PLEKHG4', 'score': 10.78}, {'connected_gene': 'ENSG00000260465', 'score': 5.65}, {'connected_gene': 'PRMT7', 'score': 5.27}, {'connected_gene': 'RNU1-123P', 'score': 0.77}]
chr16 GH16I067413 67413092 67417067 2.31 [{'connected_gene': 'ZDHHC1', 'score': 550.77}, {'connected_gene': 'PRMT7', 'score': 19.39}, {'connected_gene': 'ATP6V0D1', 'score': 17.89}, {'connected_gene': 'LRRC36', 'score': 17.05}, {'connected_gene': 'FHOD1', 'score': 11.25}, {'connected_gene': 'PLEKHG4', 'score': 10.82}, {'connected_gene': 'TMEM208', 'score': 9.72}, {'connected_gene': 'LRRC29', 'score': 9.72}, {'connected_gene': 'HSD11B2', 'score': 8.71}, {'connected_gene': 'DPEP2', 'score': 7.35}, {'connected_gene': 'TPPP3', 'score': 0.34}]
chr16 GH16I067294 67294998 67295147 0.31 [{'connected_gene': 'ZDHHC1', 'score': 10.55}, {'connected_gene': 'HSD11B2', 'score': 10.5}, {'connected_gene': 'TMEM208', 'score': 10.39}, {'connected_gene': 'LRRC29', 'score': 10.39}, {'connected_gene': 'RNU1-123P', 'score': 10.34}, {'connected_gene': 'TPPP3', 'score': 10.34}, {'connected_gene': 'PIR58758', 'score': 0.77}, {'connected_gene': 'PIR55673', 'score': 0.44}, {'connected_gene': 'GC16M067290', 'score': 0.44}, {'connected_gene': 'KCTD19', 'score': 0.29}]
chr16 GH16I067295 67295198 67295347 0.31 [{'connected_gene': 'ZDHHC1', 'score': 10.55}, {'connected_gene': 'HSD11B2', 'score': 10.5}, {'connected_gene': 'TMEM208', 'score': 10.39}, {'connected_gene': 'LRRC29', 'score': 10.39}, {'connected_gene': 'RNU1-123P', 'score': 10.34}, {'connected_gene': 'TPPP3', 'score': 10.34}, {'connected_gene': 'PIR58758', 'score': 0.77}, {'connected_gene': 'PIR55673', 'score': 0.44}, {'connected_gene': 'GC16M067290', 'score': 0.44}, {'connected_gene': 'KCTD19', 'score': 0.29}]
chr16 GH16I067860 67860247 67864362 1.12 [{'connected_gene': 'NRN1L', 'score': 11.69}, {'connected_gene': 'THAP11', 'score': 11.61}, {'connected_gene': 'PSKH1', 'score': 11.45}, {'connected_gene': 'RANBP10', 'score': 11.0}, {'connected_gene': 'TSNAXIP1', 'score': 11.0}, {'connected_gene': 'RIPOR1', 'score': 10.0}, {'connected_gene': 'PRMT7', 'score': 9.64}, {'connected_gene': 'PARD6A', 'score': 9.63}, {'connected_gene': 'ACD', 'score': 9.63}, {'connected_gene': 'CARMIL2', 'score': 9.28}, {'connected_gene': 'DPEP2', 'score': 9.06}, {'connected_gene': 'TPPP3', 'score': 4.33}, {'connected_gene': 'CENPT', 'score': 2.39}, {'connected_gene': 'ENSG00000262141', 'score': 0.44}, {'connected_gene': 'GC16P067869', 'score': 0.44}, {'connected_gene': 'NUTF2', 'score': 0.37}]
chr16 GH16I067909 67909620 67910735 0.66 [{'connected_gene': 'NRN1L', 'score': 11.53}, {'connected_gene': 'EDC4', 'score': 11.02}, {'connected_gene': 'NUTF2', 'score': 10.79}, {'connected_gene': 'THAP11', 'score': 10.79}, {'connected_gene': 'DUS2', 'score': 10.57}, {'connected_gene': 'PARD6A', 'score': 10.49}, {'connected_gene': 'ACD', 'score': 10.49}, {'connected_gene': 'DDX28', 'score': 9.82}, {'connected_gene': 'TPPP3', 'score': 3.73}, {'connected_gene': 'PSKH1', 'score': 0.37}, {'connected_gene': 'CTRL', 'score': 0.34}]
chr16 GH16I067346 67346438 67346587 0.59 [{'connected_gene': 'RNU1-123P', 'score': 11.68}, {'connected_gene': 'TPPP3', 'score': 11.66}, {'connected_gene': 'ZDHHC1', 'score': 11.31}, {'connected_gene': 'PLEKHG4', 'score': 11.22}, {'connected_gene': 'HSD11B2', 'score': 11.14}, {'connected_gene': 'ELMO3', 'score': 10.11}, {'connected_gene': 'MIR328', 'score': 10.11}, {'connected_gene': 'LRRC36', 'score': 0.37}]
chr16 GH16I067854 67854951 67859399 1.48 [{'connected_gene': 'ENSG00000262141', 'score': 550.77}, {'connected_gene': 'RANBP10', 'score': 22.16}, {'connected_gene': 'ACD', 'score': 16.33}, {'connected_gene': 'NRN1L', 'score': 11.66}, {'connected_gene': 'TSNAXIP1', 'score': 11.22}, {'connected_gene': 'DUS2', 'score': 11.18}, {'connected_gene': 'PSKH1', 'score': 11.1}, {'connected_gene': 'PARD6A', 'score': 10.26}, {'connected_gene': 'RIPOR1', 'score': 10.01}, {'connected_gene': 'PRMT7', 'score': 9.98}, {'connected_gene': 'SLC7A6', 'score': 3.88}, {'connected_gene': 'TPPP3', 'score': 3.75}, {'connected_gene': 'EDC4', 'score': 2.28}, {'connected_gene': 'THAP11', 'score': 2.01}, {'connected_gene': 'NFATC3', 'score': 1.66}, {'connected_gene': 'PSMB10', 'score': 1.4}, {'connected_gene': 'CARMIL2', 'score': 1.28}, {'connected_gene': 'NUTF2', 'score': 0.39}, {'connected_gene': 'GC16P067869', 'score': 0.39}]
chr16 GH16I067296 67296055 67296783 0.46 [{'connected_gene': 'PIR58758', 'score': 550.77}, {'connected_gene': 'ZDHHC1', 'score': 10.55}, {'connected_gene': 'HSD11B2', 'score': 10.49}, {'connected_gene': 'TMEM208', 'score': 10.39}, {'connected_gene': 'LRRC29', 'score': 10.39}, {'connected_gene': 'RNU1-123P', 'score': 10.35}, {'connected_gene': 'TPPP3', 'score': 10.34}, {'connected_gene': 'PIR55673', 'score': 0.44}, {'connected_gene': 'GC16M067290', 'score': 0.44}, {'connected_gene': 'KCTD19', 'score': 0.29}]

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