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
ENST00000413021 [[68279206, 68279456], [68288821, 68288940], [68289184, 68289283], [68289793, 68289893], [68293048, 68293826]] [[68279329, 68279456], [68288821, 68288940], [68289184, 68289283], [68289793, 68289893], [68293048, 68293560]]
ENST00000565744 [[68279243, 68279456], [68283192, 68283349], [68288821, 68288940], [68289668, 68289756]] [[68279329, 68279456], [68283192, 68283349], [68288821, 68288940], [68289668, 68289756]]
ENST00000219345 [[68279246, 68279456], [68283192, 68283349], [68288821, 68288940], [68289184, 68289283], [68289668, 68289893], [68293048, 68294961]] [[68279329, 68279456], [68283192, 68283349], [68288821, 68288940], [68289184, 68289283], [68289668, 68289893], [68293048, 68293560]]
ENST00000566978 [[68279273, 68279456], [68282471, 68282595], [68283192, 68283349], [68288821, 68288941]] [[68279329, 68279456], [68282471, 68282595], [68283192, 68283202]]
ENST00000564827 [[68279275, 68279456], [68283192, 68283349], [68287324, 68287420], [68288821, 68288940], [68289184, 68289283], [68289793, 68289893], [68293048, 68293077]] [[68279329, 68279456], [68283192, 68283349], [68287324, 68287420], [68288821, 68288940], [68289184, 68289283], [68289793, 68289893], [68293048, 68293077]]
ENST00000566188 [[68279275, 68279456], [68283192, 68283349], [68288821, 68288940], [68289184, 68289283], [68289793, 68289893], [68293048, 68293595]] [[68279329, 68279456], [68283192, 68283349], [68288821, 68288940], [68289184, 68289283], [68289793, 68289893], [68293048, 68293157]]
ENST00000444212 [[68279275, 68279456], [68293048, 68293810]] [[68279329, 68279456], [68293048, 68293560]]
ENST00000562966 [[68279282, 68279456], [68283192, 68283349], [68288821, 68288940], [68289184, 68289306]] None
ENST00000568082 [[68279294, 68279456], [68283192, 68283349], [68288821, 68288940], [68289184, 68289283], [68289608, 68289893], [68293048, 68293155]] [[68279329, 68279456], [68283192, 68283349], [68288821, 68288940], [68289184, 68289283], [68289608, 68289893], [68293048, 68293155]]
ENST00000562449 [[68288255, 68288940], [68289184, 68289283], [68289668, 68289834]] None
ENST00000568599 [[68282189, 68282595], [68283192, 68283327]] None
ENST00000565460 [[68288683, 68289893], [68293048, 68294959]] None
NM_012320 [[68279246, 68279456], [68283192, 68283349], [68288821, 68288940], [68289184, 68289283], [68289668, 68289893], [68293048, 68294961]] [[68279329, 68279456], [68283192, 68283349], [68288821, 68288940], [68289184, 68289283], [68289668, 68289893], [68293048, 68293560]]
Promoter
Chrom Start End Description
chr16 68279241 68279252 CAGE_peak_2_at_PLA2G15_5end
chr16 68279256 68279309 CAGE_peak_1_at_PLA2G15_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I067456 67456038 67464509 1.27 [{'connected_gene': 'ATP6V0D1', 'score': 19.88}, {'connected_gene': 'LRRC36', 'score': 11.61}, {'connected_gene': 'PLA2G15', 'score': 5.36}, {'connected_gene': 'GC16M067447', 'score': 0.39}, {'connected_gene': 'GC16M067470', 'score': 0.39}]
chr16 GH16I068239 68239617 68240400 1.02 [{'connected_gene': 'ESRP2', 'score': 550.77}, {'connected_gene': 'PRMT7', 'score': 12.96}, {'connected_gene': 'PLA2G15', 'score': 0.44}]
chr16 GH16I068203 68203278 68203627 0.2 [{'connected_gene': 'ESRP2', 'score': 11.43}, {'connected_gene': 'PLA2G15', 'score': 11.4}, {'connected_gene': 'SLC7A6', 'score': 10.46}, {'connected_gene': 'PRMT7', 'score': 10.28}, {'connected_gene': 'SLC7A6OS', 'score': 10.28}, {'connected_gene': 'ENSG00000279621', 'score': 0.77}, {'connected_gene': 'RPS12P27', 'score': 0.44}, {'connected_gene': 'NFATC3', 'score': 0.13}]
chr16 GH16I067780 67780602 67782283 0.86 [{'connected_gene': 'RANBP10', 'score': 9.62}, {'connected_gene': 'DPEP2', 'score': 9.02}, {'connected_gene': 'PLA2G15', 'score': 5.48}, {'connected_gene': 'ENSG00000270165', 'score': 0.26}]
chr16 GH16I068204 68204744 68205553 0.2 [{'connected_gene': 'PRMT7', 'score': 22.71}, {'connected_gene': 'ESRP2', 'score': 11.67}, {'connected_gene': 'PLA2G15', 'score': 11.64}, {'connected_gene': 'SLC7A6', 'score': 10.78}, {'connected_gene': 'SLC7A6OS', 'score': 10.28}, {'connected_gene': 'NFATC3', 'score': 10.22}, {'connected_gene': 'RANBP10', 'score': 4.47}, {'connected_gene': 'ENSG00000279621', 'score': 0.77}, {'connected_gene': 'RPS12P27', 'score': 0.77}]
chr16 GH16I068205 68204150 68204645 0.2 [{'connected_gene': 'PRMT7', 'score': 21.9}, {'connected_gene': 'DUS2', 'score': 13.32}, {'connected_gene': 'ESRP2', 'score': 11.43}, {'connected_gene': 'PLA2G15', 'score': 11.4}, {'connected_gene': 'SLC7A6', 'score': 10.47}, {'connected_gene': 'SLC7A6OS', 'score': 10.28}, {'connected_gene': 'ENSG00000279621', 'score': 0.77}, {'connected_gene': 'RPS12P27', 'score': 0.77}, {'connected_gene': 'NFATC3', 'score': 0.13}]
chr16 GH16I068256 68256732 68259848 1.31 [{'connected_gene': 'PRMT7', 'score': 13.62}, {'connected_gene': 'DUS2', 'score': 13.6}, {'connected_gene': 'ENSG00000260441', 'score': 0.77}, {'connected_gene': 'PLA2G15', 'score': 0.39}]
chr16 GH16I068250 68250811 68253347 0.58 [{'connected_gene': 'PRMT7', 'score': 14.1}, {'connected_gene': 'DUS2', 'score': 13.33}, {'connected_gene': 'PLA2G15', 'score': 0.44}, {'connected_gene': 'ENSG00000260441', 'score': 0.44}]
chr16 GH16I068254 68254632 68256064 0.2 [{'connected_gene': 'PRMT7', 'score': 13.44}, {'connected_gene': 'ENSG00000260441', 'score': 0.44}, {'connected_gene': 'PLA2G15', 'score': 0.39}]
chr16 GH16I068061 68061249 68066588 1.28 [{'connected_gene': 'PRMT7', 'score': 29.07}, {'connected_gene': 'EDC4', 'score': 21.34}, {'connected_gene': 'E2F4', 'score': 16.96}, {'connected_gene': 'ENSG00000263276', 'score': 15.23}, {'connected_gene': 'CTCF', 'score': 14.8}, {'connected_gene': 'FBXL8', 'score': 12.96}, {'connected_gene': 'NFATC3', 'score': 12.36}, {'connected_gene': 'ENSG00000270165', 'score': 11.89}, {'connected_gene': 'THAP11', 'score': 10.93}, {'connected_gene': 'DDX28', 'score': 10.89}, {'connected_gene': 'DUS2', 'score': 10.81}, {'connected_gene': 'RNU6-359P', 'score': 10.66}, {'connected_gene': 'DPEP3', 'score': 10.41}, {'connected_gene': 'RANBP10', 'score': 10.3}, {'connected_gene': 'CENPT', 'score': 10.3}, {'connected_gene': 'PLA2G15', 'score': 5.62}, {'connected_gene': 'ENSG00000261864', 'score': 0.39}]
chr16 GH16I068253 68253749 68254315 0.75 [{'connected_gene': 'ZDHHC1', 'score': 64.48}, {'connected_gene': 'CTCF', 'score': 56.88}, {'connected_gene': 'EDC4', 'score': 53.36}, {'connected_gene': 'CENPT', 'score': 49.06}, {'connected_gene': 'ENKD1', 'score': 45.96}, {'connected_gene': 'ENSG00000263276', 'score': 42.23}, {'connected_gene': 'CHTF8', 'score': 40.15}, {'connected_gene': 'SNTB2', 'score': 35.43}, {'connected_gene': 'ENSG00000270165', 'score': 33.47}, {'connected_gene': 'RANBP10', 'score': 23.01}, {'connected_gene': 'THAP11', 'score': 18.54}, {'connected_gene': 'ACD', 'score': 17.89}, {'connected_gene': 'ZFP90', 'score': 12.65}, {'connected_gene': 'ENSG00000262514', 'score': 10.82}, {'connected_gene': 'ENSG00000260891', 'score': 10.65}, {'connected_gene': 'SLC12A4', 'score': 10.59}, {'connected_gene': 'C16orf86', 'score': 10.05}, {'connected_gene': 'UTP4', 'score': 9.87}, {'connected_gene': 'NFATC3', 'score': 9.81}, {'connected_gene': 'ENSG00000260441', 'score': 0.44}, {'connected_gene': 'PLA2G15', 'score': 0.44}]
chr16 GH16I068244 68244396 68247487 2.23 [{'connected_gene': 'PLA2G15', 'score': 550.77}, {'connected_gene': 'PRMT7', 'score': 14.15}, {'connected_gene': 'ENSG00000260441', 'score': 0.39}]
chr16 GH16I068248 68248971 68249791 0.2 [{'connected_gene': 'PLA2G15', 'score': 0.77}, {'connected_gene': 'ENSG00000260441', 'score': 0.39}]
chr16 GH16I067444 67444650 67453164 1.07 [{'connected_gene': 'GC16M067447', 'score': 550.77}, {'connected_gene': 'ATP6V0D1', 'score': 32.08}, {'connected_gene': 'ZDHHC1', 'score': 11.67}, {'connected_gene': 'AGRP', 'score': 11.24}, {'connected_gene': 'RIPOR1', 'score': 10.41}, {'connected_gene': 'E2F4', 'score': 10.34}, {'connected_gene': 'EXOC3L1', 'score': 10.34}, {'connected_gene': 'KIAA0895L', 'score': 10.34}, {'connected_gene': 'TMEM208', 'score': 9.9}, {'connected_gene': 'LRRC29', 'score': 9.9}, {'connected_gene': 'PARD6A', 'score': 9.83}, {'connected_gene': 'ACD', 'score': 9.83}, {'connected_gene': 'LRRC36', 'score': 9.65}, {'connected_gene': 'ENSG00000237718', 'score': 9.58}, {'connected_gene': 'CARMIL2', 'score': 9.56}, {'connected_gene': 'RANBP10', 'score': 9.23}, {'connected_gene': 'PLA2G15', 'score': 5.67}, {'connected_gene': 'PRMT7', 'score': 5.42}, {'connected_gene': 'GC16M067470', 'score': 0.34}]
chr16 GH16I068260 68260862 68261371 0.31 [{'connected_gene': 'ENSG00000260441', 'score': 550.77}, {'connected_gene': 'SLC7A6', 'score': 14.7}, {'connected_gene': 'PLA2G15', 'score': 0.37}]
chr16 GH16I068200 68200430 68201029 0.72 [{'connected_gene': 'ENSG00000279621', 'score': 550.77}, {'connected_gene': 'ENSG00000262514', 'score': 550.77}, {'connected_gene': 'ESRP2', 'score': 11.41}, {'connected_gene': 'PLA2G15', 'score': 11.4}, {'connected_gene': 'SLC7A6', 'score': 10.46}, {'connected_gene': 'PRMT7', 'score': 10.27}, {'connected_gene': 'SLC7A6OS', 'score': 10.27}, {'connected_gene': 'NFATC3', 'score': 0.13}]
chr16 GH16I068201 68201256 68202653 0.77 [{'connected_gene': 'ENSG00000279621', 'score': 550.77}, {'connected_gene': 'ZFP90', 'score': 12.64}, {'connected_gene': 'ESRP2', 'score': 11.41}, {'connected_gene': 'PLA2G15', 'score': 11.4}, {'connected_gene': 'SLC7A6', 'score': 10.46}, {'connected_gene': 'SLC7A6OS', 'score': 10.28}, {'connected_gene': 'PRMT7', 'score': 10.28}, {'connected_gene': 'RPS12P27', 'score': 0.44}, {'connected_gene': 'NFATC3', 'score': 0.13}]
chr16 GH16I068209 68209174 68210042 0.2 [{'connected_gene': 'GC16P068209', 'score': 550.77}, {'connected_gene': 'RPS12P27', 'score': 550.77}, {'connected_gene': 'ESRP2', 'score': 11.97}, {'connected_gene': 'PLA2G15', 'score': 11.94}, {'connected_gene': 'DUS2', 'score': 11.77}, {'connected_gene': 'SLC7A6', 'score': 11.23}, {'connected_gene': 'NFATC3', 'score': 10.18}, {'connected_gene': 'SLC7A6OS', 'score': 9.76}, {'connected_gene': 'PRMT7', 'score': 9.76}, {'connected_gene': 'EDC4', 'score': 9.32}, {'connected_gene': 'ENSG00000260891', 'score': 0.39}]
chr16 GH16I068210 68210445 68212172 0.63 [{'connected_gene': 'GC16P068209', 'score': 550.77}, {'connected_gene': 'RPS12P27', 'score': 550.77}, {'connected_gene': 'PRMT7', 'score': 22.12}, {'connected_gene': 'DUS2', 'score': 13.31}, {'connected_gene': 'ESRP2', 'score': 11.97}, {'connected_gene': 'PLA2G15', 'score': 11.95}, {'connected_gene': 'SLC7A6', 'score': 11.23}, {'connected_gene': 'NFATC3', 'score': 10.18}, {'connected_gene': 'SLC7A6OS', 'score': 9.77}, {'connected_gene': 'EDC4', 'score': 9.32}, {'connected_gene': 'DPEP2', 'score': 8.28}, {'connected_gene': 'ENSG00000260891', 'score': 0.39}]