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
ENST00000526809 [[64879316, 64879539], [64879986, 64880183], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866], [64882947, 64882986]] [[64879487, 64879539], [64879986, 64880183], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866], [64882947, 64882986]]
ENST00000279263 [[64879325, 64879539], [64879986, 64880183], [64880282, 64880337], [64880691, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866], [64882947, 64883070], [64883364, 64883828]] [[64879487, 64879539], [64879986, 64880183], [64880282, 64880337], [64880691, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866], [64882947, 64883070], [64883364, 64883525]]
ENST00000524986 [[64879338, 64879362], [64879986, 64880183], [64880282, 64880337], [64880691, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882418]] [[64880021, 64880183], [64880282, 64880337], [64880691, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882418]]
ENST00000528026 [[64879343, 64879539], [64879986, 64880183], [64882140, 64882329]] None
ENST00000533766 [[64879343, 64879539], [64879986, 64880183], [64880282, 64880886], [64880962, 64881066], [64882184, 64882553], [64882785, 64882862]] None
ENST00000534371 [[64879343, 64879539], [64879986, 64880183], [64880840, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866]] [[64879487, 64879539], [64879986, 64880183], [64880840, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866]]
ENST00000529601 [[64879349, 64879539], [64879986, 64880183], [64880691, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866], [64882947, 64883070], [64883364, 64883856]] [[64879487, 64879539], [64879986, 64880183], [64880691, 64880712]]
ENST00000540748 [[64879349, 64879539], [64879986, 64880183], [64880691, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866], [64882947, 64883070], [64883364, 64883856]] [[64880735, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866], [64882947, 64883070], [64883364, 64883525]]
ENST00000525385 [[64879350, 64879453], [64879986, 64880183], [64880282, 64880337], [64880691, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882856]] [[64880021, 64880183], [64880282, 64880337], [64880691, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882856]]
ENST00000345348 [[64879355, 64879539], [64879986, 64880183], [64880282, 64880337], [64880691, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882947, 64883070], [64883364, 64883707]] [[64879487, 64879539], [64879986, 64880183], [64880282, 64880337], [64880691, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882947, 64883070], [64883364, 64883525]]
ENST00000531321 [[64879357, 64879453], [64879986, 64880183], [64880282, 64880337], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866], [64882947, 64883070]] [[64880021, 64880183], [64880282, 64880337], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866], [64882947, 64883070]]
ENST00000529292 [[64879360, 64879539], [64879986, 64880183], [64880282, 64880337], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866], [64882947, 64883070], [64883364, 64883745]] [[64879487, 64879539], [64879986, 64880183], [64880282, 64880337], [64882184, 64882288]]
ENST00000529414 [[64879361, 64879539], [64879986, 64880183], [64880282, 64880337], [64880691, 64880886], [64880995, 64881066], [64882184, 64882237]] [[64879487, 64879539], [64879986, 64880183], [64880282, 64880337], [64880691, 64880886], [64880995, 64881066], [64882184, 64882237]]
ENST00000526085 [[64879362, 64879539], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553]] [[64879487, 64879539], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553]]
ENST00000530650 [[64879373, 64880337], [64880691, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866], [64882947, 64883070], [64883364, 64883702]] None
ENST00000530750 [[64879469, 64879539], [64879986, 64880183], [64880282, 64880337], [64880962, 64881005]] [[64879487, 64879539], [64879986, 64880183], [64880282, 64880337], [64880962, 64881005]]
ENST00000524690 [[64879519, 64879539], [64879986, 64880183], [64880282, 64880366], [64880691, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882507]] [[64879519, 64879539], [64879986, 64880183], [64880282, 64880345]]
ENST00000530892 [[64879742, 64880183], [64880282, 64880337], [64880691, 64880886]] None
ENST00000531029 [[64880115, 64880183], [64880282, 64880337], [64880691, 64880886], [64882184, 64882304], [64882384, 64882476]] None
ENST00000529233 [[64880176, 64880337], [64880840, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866], [64882947, 64883022]] None
ENST00000527851 [[64880210, 64881066], [64882184, 64882304]] None
ENST00000533646 [[64879346, 64879539], [64879986, 64880158], [64880433, 64880554]] None
ENST00000534667 [[64880685, 64880886], [64880962, 64881254]] None
ENST00000532328 [[64880842, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882908]] None
ENST00000527968 [[64880967, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866], [64883364, 64883439]] [[64880967, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866], [64883364, 64883439]]
ENST00000528802 [[64880980, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866], [64882947, 64883070], [64883246, 64883294], [64883364, 64883429]] [[64880980, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866], [64882947, 64883070]]
ENST00000526048 [[64881021, 64881066], [64882184, 64882304], [64882384, 64883070], [64883364, 64883681]] None
NR_102367 [[64879325, 64879539], [64879986, 64880183], [64880691, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866], [64882947, 64883070], [64883364, 64883707]] None
NM_001277233 [[64879325, 64879539], [64879986, 64880183], [64880282, 64880337], [64880691, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882947, 64883070], [64883364, 64883707]] [[64879487, 64879539], [64879986, 64880183], [64880282, 64880337], [64880691, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882947, 64883070], [64883364, 64883525]]
NM_003273 [[64879325, 64879539], [64879986, 64880183], [64880282, 64880337], [64880691, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866], [64882947, 64883070], [64883364, 64883707]] [[64879487, 64879539], [64879986, 64880183], [64880282, 64880337], [64880691, 64880886], [64880962, 64881066], [64882184, 64882304], [64882384, 64882553], [64882785, 64882866], [64882947, 64883070], [64883364, 64883525]]
Promoter
Chrom Start End Description
chr11 64879336 64879353 CAGE_peak_1_at_TM7SF2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I065129 65129689 65136857 2.31 [{'connected_gene': 'SYVN1', 'score': 550.77}, {'connected_gene': 'SPDYC', 'score': 33.37}, {'connected_gene': 'LOC728975', 'score': 21.58}, {'connected_gene': 'SSSCA1', 'score': 12.15}, {'connected_gene': 'PGAM1P8', 'score': 12.05}, {'connected_gene': 'CAPN1', 'score': 12.03}, {'connected_gene': 'ZNHIT2', 'score': 11.56}, {'connected_gene': 'SF1', 'score': 11.52}, {'connected_gene': 'POLA2', 'score': 11.29}, {'connected_gene': 'SCYL1', 'score': 11.19}, {'connected_gene': 'EIF1AD', 'score': 11.18}, {'connected_gene': 'ENSG00000254501', 'score': 10.87}, {'connected_gene': 'TM7SF2', 'score': 10.87}, {'connected_gene': 'VPS51', 'score': 10.79}, {'connected_gene': 'ENSG00000257086', 'score': 10.71}, {'connected_gene': 'PCNX3', 'score': 10.09}, {'connected_gene': 'DNAJC4', 'score': 9.66}, {'connected_gene': 'MIR6751', 'score': 0.77}, {'connected_gene': 'PIR35768', 'score': 0.77}, {'connected_gene': 'GC11M065131', 'score': 0.77}]
chr11 GH11I065216 65216851 65217736 0.38 [{'connected_gene': 'LOC728975', 'score': 21.63}, {'connected_gene': 'POLA2', 'score': 11.91}, {'connected_gene': 'CAPN1', 'score': 11.74}, {'connected_gene': 'PGAM1P8', 'score': 11.72}, {'connected_gene': 'CDC42EP2', 'score': 11.27}, {'connected_gene': 'SPDYC', 'score': 11.12}, {'connected_gene': 'ZNHIT2', 'score': 10.94}, {'connected_gene': 'ENSG00000255173', 'score': 10.93}, {'connected_gene': 'RNU2-23P', 'score': 10.87}, {'connected_gene': 'HIGD1AP10', 'score': 10.86}, {'connected_gene': 'CDCA5', 'score': 10.7}, {'connected_gene': 'ZFPL1', 'score': 10.7}, {'connected_gene': 'DPF2', 'score': 10.62}, {'connected_gene': 'ENSG00000254501', 'score': 10.58}, {'connected_gene': 'TM7SF2', 'score': 10.58}, {'connected_gene': 'VPS51', 'score': 10.56}, {'connected_gene': 'SLC22A20P', 'score': 0.77}]
chr11 GH11I065277 65277398 65281894 1.08 [{'connected_gene': 'LOC728975', 'score': 46.72}, {'connected_gene': 'CDC42EP2', 'score': 12.49}, {'connected_gene': 'DPF2', 'score': 12.1}, {'connected_gene': 'SLC25A45', 'score': 11.33}, {'connected_gene': 'FRMD8', 'score': 11.32}, {'connected_gene': 'TIGD3', 'score': 10.95}, {'connected_gene': 'CAPN1', 'score': 10.94}, {'connected_gene': 'PGAM1P8', 'score': 10.94}, {'connected_gene': 'ENSG00000254501', 'score': 10.53}, {'connected_gene': 'TM7SF2', 'score': 10.53}, {'connected_gene': 'VPS51', 'score': 10.51}, {'connected_gene': 'SPDYC', 'score': 10.25}, {'connected_gene': 'POLA2', 'score': 9.11}, {'connected_gene': 'LOC105369344', 'score': 0.28}]
chr11 GH11I065211 65211477 65214460 1.03 [{'connected_gene': 'SLC22A20P', 'score': 550.77}, {'connected_gene': 'LOC728975', 'score': 57.11}, {'connected_gene': 'POLA2', 'score': 21.33}, {'connected_gene': 'CAPN1', 'score': 16.35}, {'connected_gene': 'PGAM1P8', 'score': 11.82}, {'connected_gene': 'CDC42EP2', 'score': 11.27}, {'connected_gene': 'SPDYC', 'score': 11.14}, {'connected_gene': 'CDCA5', 'score': 11.06}, {'connected_gene': 'ZFPL1', 'score': 11.06}, {'connected_gene': 'VPS51', 'score': 11.06}, {'connected_gene': 'HIGD1AP10', 'score': 11.01}, {'connected_gene': 'RNU2-23P', 'score': 11.01}, {'connected_gene': 'ENSG00000255173', 'score': 10.94}, {'connected_gene': 'ZNHIT2', 'score': 10.94}, {'connected_gene': 'ENSG00000254501', 'score': 10.67}, {'connected_gene': 'TM7SF2', 'score': 10.67}, {'connected_gene': 'DPF2', 'score': 10.62}]
chr11 GH11I065215 65215401 65215679 1.06 [{'connected_gene': 'SLC22A20P', 'score': 550.77}, {'connected_gene': 'POLA2', 'score': 11.89}, {'connected_gene': 'LOC728975', 'score': 11.76}, {'connected_gene': 'CAPN1', 'score': 11.76}, {'connected_gene': 'PGAM1P8', 'score': 11.74}, {'connected_gene': 'CDC42EP2', 'score': 11.27}, {'connected_gene': 'SPDYC', 'score': 11.12}, {'connected_gene': 'ENSG00000255173', 'score': 10.94}, {'connected_gene': 'ZNHIT2', 'score': 10.94}, {'connected_gene': 'HIGD1AP10', 'score': 10.87}, {'connected_gene': 'RNU2-23P', 'score': 10.87}, {'connected_gene': 'CDCA5', 'score': 10.7}, {'connected_gene': 'ZFPL1', 'score': 10.7}, {'connected_gene': 'DPF2', 'score': 10.62}, {'connected_gene': 'ENSG00000254501', 'score': 10.58}, {'connected_gene': 'TM7SF2', 'score': 10.58}, {'connected_gene': 'VPS51', 'score': 10.56}]
chr11 GH11I065065 65065979 65068270 0.87 [{'connected_gene': 'SNX15', 'score': 28.3}, {'connected_gene': 'ARL2', 'score': 11.84}, {'connected_gene': 'VPS51', 'score': 11.57}, {'connected_gene': 'ENSG00000254501', 'score': 11.49}, {'connected_gene': 'TM7SF2', 'score': 11.49}, {'connected_gene': 'CDC42BPG', 'score': 10.68}, {'connected_gene': 'MAJIN', 'score': 10.25}, {'connected_gene': 'EHD1', 'score': 9.55}, {'connected_gene': 'MEN1', 'score': 4.79}, {'connected_gene': 'LOC728975', 'score': 4.57}, {'connected_gene': 'GC11M065053', 'score': 0.44}, {'connected_gene': 'PIR38481', 'score': 0.39}, {'connected_gene': 'GC11M065079', 'score': 0.39}, {'connected_gene': 'CDCA5', 'score': 0.37}]
chr11 GH11I065069 65069181 65069952 0.74 [{'connected_gene': 'SNX15', 'score': 21.73}, {'connected_gene': 'ARL2', 'score': 11.83}, {'connected_gene': 'ENSG00000254501', 'score': 11.49}, {'connected_gene': 'TM7SF2', 'score': 11.49}, {'connected_gene': 'CDC42BPG', 'score': 10.68}, {'connected_gene': 'MAJIN', 'score': 10.25}, {'connected_gene': 'EHD1', 'score': 9.55}, {'connected_gene': 'PIR38481', 'score': 0.44}, {'connected_gene': 'GC11M065079', 'score': 0.44}, {'connected_gene': 'GC11M065053', 'score': 0.44}, {'connected_gene': 'CDCA5', 'score': 0.39}]
chr11 GH11I065047 65047298 65048393 0.7 [{'connected_gene': 'SNX15', 'score': 20.12}, {'connected_gene': 'CDCA5', 'score': 12.65}, {'connected_gene': 'ZFPL1', 'score': 12.65}, {'connected_gene': 'VPS51', 'score': 11.79}, {'connected_gene': 'ENSG00000254501', 'score': 10.99}, {'connected_gene': 'TM7SF2', 'score': 10.99}, {'connected_gene': 'MAJIN', 'score': 10.79}, {'connected_gene': 'GC11P065048', 'score': 0.77}, {'connected_gene': 'GC11P065050', 'score': 0.77}, {'connected_gene': 'GC11M065049', 'score': 0.77}, {'connected_gene': 'NAALADL1', 'score': 0.39}]
chr11 GH11I065219 65219679 65220449 0.59 [{'connected_gene': 'POLA2', 'score': 11.91}, {'connected_gene': 'LOC728975', 'score': 11.74}, {'connected_gene': 'CAPN1', 'score': 11.74}, {'connected_gene': 'PGAM1P8', 'score': 11.72}, {'connected_gene': 'CDC42EP2', 'score': 11.28}, {'connected_gene': 'SPDYC', 'score': 11.11}, {'connected_gene': 'ENSG00000255173', 'score': 10.93}, {'connected_gene': 'ZNHIT2', 'score': 10.93}, {'connected_gene': 'HIGD1AP10', 'score': 10.86}, {'connected_gene': 'RNU2-23P', 'score': 10.86}, {'connected_gene': 'CDCA5', 'score': 10.7}, {'connected_gene': 'ZFPL1', 'score': 10.7}, {'connected_gene': 'DPF2', 'score': 10.63}, {'connected_gene': 'ENSG00000254501', 'score': 10.58}, {'connected_gene': 'TM7SF2', 'score': 10.58}, {'connected_gene': 'VPS51', 'score': 10.55}, {'connected_gene': 'SLC22A20P', 'score': 8.41}]
chr11 GH11I065288 65288536 65303058 1.68 [{'connected_gene': 'POLA2', 'score': 21.02}, {'connected_gene': 'EHD1', 'score': 20.84}, {'connected_gene': 'LOC728975', 'score': 18.49}, {'connected_gene': 'SLC25A45', 'score': 12.95}, {'connected_gene': 'DPF2', 'score': 11.84}, {'connected_gene': 'FRMD8', 'score': 11.34}, {'connected_gene': 'ENSG00000255478', 'score': 11.15}, {'connected_gene': 'SPDYC', 'score': 11.01}, {'connected_gene': 'CAPN1', 'score': 10.86}, {'connected_gene': 'PGAM1P8', 'score': 10.86}, {'connected_gene': 'ENSG00000254501', 'score': 10.15}, {'connected_gene': 'TM7SF2', 'score': 10.15}, {'connected_gene': 'VPS51', 'score': 10.14}, {'connected_gene': 'CDC42EP2', 'score': 10.06}, {'connected_gene': 'MIR612', 'score': 10.04}, {'connected_gene': 'RELA', 'score': 9.87}, {'connected_gene': 'EHBP1L1', 'score': 8.06}, {'connected_gene': 'BATF2', 'score': 6.95}, {'connected_gene': 'AP5B1', 'score': 6.55}, {'connected_gene': 'NEAT1', 'score': 4.27}, {'connected_gene': 'KAT5', 'score': 3.6}, {'connected_gene': 'MAP3K11', 'score': 3.08}, {'connected_gene': 'FAU', 'score': 2.85}, {'connected_gene': 'LOC105369344', 'score': 0.37}]
chr11 GH11I065286 65286401 65288120 0.2 [{'connected_gene': 'POLA2', 'score': 31.7}, {'connected_gene': 'CDC42EP2', 'score': 12.52}, {'connected_gene': 'SLC25A45', 'score': 11.33}, {'connected_gene': 'FRMD8', 'score': 11.33}, {'connected_gene': 'DPF2', 'score': 11.26}, {'connected_gene': 'LOC728975', 'score': 10.88}, {'connected_gene': 'CAPN1', 'score': 10.88}, {'connected_gene': 'PGAM1P8', 'score': 10.87}, {'connected_gene': 'SPDYC', 'score': 10.23}, {'connected_gene': 'VPS51', 'score': 10.14}, {'connected_gene': 'ENSG00000254501', 'score': 9.83}, {'connected_gene': 'TM7SF2', 'score': 9.83}, {'connected_gene': 'LOC105369344', 'score': 0.31}]
chr11 GH11I064163 64163419 64167428 2.04 [{'connected_gene': 'LOC105369339', 'score': 550.77}, {'connected_gene': 'MACROD1', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 32.64}, {'connected_gene': 'TRPT1', 'score': 32.25}, {'connected_gene': 'ZFPL1', 'score': 26.06}, {'connected_gene': 'PLCB3', 'score': 22.87}, {'connected_gene': 'TRMT112', 'score': 19.01}, {'connected_gene': 'ATG2A', 'score': 17.73}, {'connected_gene': 'ENSG00000257086', 'score': 14.2}, {'connected_gene': 'VPS51', 'score': 13.39}, {'connected_gene': 'SYVN1', 'score': 11.79}, {'connected_gene': 'FAU', 'score': 11.46}, {'connected_gene': 'ENSG00000256481', 'score': 10.55}, {'connected_gene': 'ENSG00000256341', 'score': 10.32}, {'connected_gene': 'MRPL49', 'score': 10.04}, {'connected_gene': 'NAA40', 'score': 9.99}, {'connected_gene': 'CCDC88B', 'score': 8.51}, {'connected_gene': 'ENSG00000256116', 'score': 5.8}, {'connected_gene': 'TM7SF2', 'score': 5.01}, {'connected_gene': 'PIR54353', 'score': 0.39}, {'connected_gene': 'GC11M064153', 'score': 0.39}]
chr11 GH11I065115 65115626 65119101 2.28 [{'connected_gene': 'ENSG00000278952', 'score': 550.77}, {'connected_gene': 'ENSG00000255173', 'score': 550.77}, {'connected_gene': 'ZNHIT2', 'score': 550.77}, {'connected_gene': 'ZFPL1', 'score': 23.78}, {'connected_gene': 'MEN1', 'score': 12.86}, {'connected_gene': 'ENSG00000257086', 'score': 11.83}, {'connected_gene': 'TRMT112', 'score': 11.68}, {'connected_gene': 'EIF1AD', 'score': 11.55}, {'connected_gene': 'FAU', 'score': 11.18}, {'connected_gene': 'VPS51', 'score': 11.14}, {'connected_gene': 'SSSCA1', 'score': 11.04}, {'connected_gene': 'KAT5', 'score': 10.69}, {'connected_gene': 'LTBP3', 'score': 10.22}, {'connected_gene': 'EFEMP2', 'score': 9.83}, {'connected_gene': 'SAC3D1', 'score': 9.31}, {'connected_gene': 'SYVN1', 'score': 7.66}, {'connected_gene': 'LOC728975', 'score': 5.82}, {'connected_gene': 'SNX15', 'score': 5.23}, {'connected_gene': 'SLC22A20P', 'score': 4.54}, {'connected_gene': 'TM7SF2', 'score': 0.44}]
chr11 GH11I065109 65109841 65114597 2.24 [{'connected_gene': 'ENSG00000254501', 'score': 550.77}, {'connected_gene': 'TM7SF2', 'score': 550.77}, {'connected_gene': 'SAC3D1', 'score': 9.32}, {'connected_gene': 'LOC728975', 'score': 7.22}, {'connected_gene': 'PIR37522', 'score': 0.77}, {'connected_gene': 'VPS51', 'score': 0.34}]

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