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
ENST00000531398 [[111228250, 111228435], [111228519, 111228562], [111229512, 111229643], [111275345, 111275447], [111320643, 111320706]] [[111228250, 111228435], [111228519, 111228562], [111229512, 111229643], [111275345, 111275367]]
ENST00000515029 [[111255461, 111256855], [111256978, 111257017], [111267575, 111267768], [111268304, 111268496], [111275345, 111275447], [111305716, 111305769]] None
ENST00000525890 [[111275364, 111275447], [111325943, 111326355]] None
ENST00000393067 [[111222976, 111225300], [111228169, 111228435], [111228519, 111228562], [111229512, 111229643], [111249886, 111250417]] [[111224985, 111225300], [111228169, 111228435], [111228519, 111228562], [111229512, 111229643], [111249886, 111249902]]
ENST00000525584 [[111225261, 111225300], [111228169, 111228435], [111228519, 111228562], [111229512, 111229643], [111229996, 111230131]] None
ENST00000530793 [[111229532, 111229643], [111248498, 111248577], [111249886, 111250000]] None
ENST00000525662 [[111229541, 111229643], [111234557, 111235002]] None
ENST00000526535 [[111233695, 111234159], [111249886, 111250000]] None
ENST00000525499 [[111234055, 111234159], [111234557, 111235023]] None
ENST00000530229 [[111267522, 111267768], [111268304, 111268770]] None
ENST00000525527 [[111267522, 111267768], [111268304, 111268431], [111269822, 111269876]] None
ENST00000529065 [[111267522, 111267768], [111268304, 111268605], [111269822, 111269967], [111271709, 111271766]] None
NM_006235 [[111222979, 111225300], [111228169, 111228435], [111228519, 111228562], [111229512, 111229643], [111249886, 111250157]] [[111224985, 111225300], [111228169, 111228435], [111228519, 111228562], [111229512, 111229643], [111249886, 111249902]]
Promoter
Chrom Start End Description
chr11 111230079 111230088 CAGE_peak_8_at_POU2AF1_5end
chr11 111230109 111230119 CAGE_peak_5_at_POU2AF1_5end
chr11 111249993 111250006 CAGE_peak_1_at_POU2AF1_5end
chr11 111320724 111320741 CAGE_peak_2_at_POU2AF1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I111445 111445798 111447001 1.13 [{'connected_gene': 'LOC644277', 'score': 550.77}, {'connected_gene': 'BTG4', 'score': 10.01}, {'connected_gene': 'C11orf88', 'score': 10.01}, {'connected_gene': 'MIR34C', 'score': 10.01}, {'connected_gene': 'MIR34B', 'score': 10.01}, {'connected_gene': 'LAYN', 'score': 9.95}, {'connected_gene': 'ENSG00000254980', 'score': 9.72}, {'connected_gene': 'DIXDC1', 'score': 4.19}, {'connected_gene': 'POU2AF1', 'score': 0.44}]
chr11 GH11I111423 111423036 111423265 1.11 [{'connected_gene': 'LOC644277', 'score': 11.99}, {'connected_gene': 'POU2AF1', 'score': 11.94}, {'connected_gene': 'COLCA1', 'score': 11.77}, {'connected_gene': 'COLCA2', 'score': 11.77}, {'connected_gene': 'RNU2-60P', 'score': 10.57}, {'connected_gene': 'MIR34B', 'score': 10.56}, {'connected_gene': 'BTG4', 'score': 10.55}, {'connected_gene': 'C11orf88', 'score': 10.55}, {'connected_gene': 'MIR34C', 'score': 10.55}, {'connected_gene': 'LAYN', 'score': 9.99}, {'connected_gene': 'LOC100132078', 'score': 6.46}]
chr11 GH11I111424 111423316 111423465 1.03 [{'connected_gene': 'LOC644277', 'score': 11.99}, {'connected_gene': 'POU2AF1', 'score': 11.94}, {'connected_gene': 'COLCA1', 'score': 11.77}, {'connected_gene': 'COLCA2', 'score': 11.77}, {'connected_gene': 'RNU2-60P', 'score': 10.57}, {'connected_gene': 'MIR34B', 'score': 10.56}, {'connected_gene': 'BTG4', 'score': 10.55}, {'connected_gene': 'C11orf88', 'score': 10.55}, {'connected_gene': 'MIR34C', 'score': 10.55}, {'connected_gene': 'LAYN', 'score': 9.99}, {'connected_gene': 'LOC100132078', 'score': 0.44}]
chr11 GH11I110475 110475401 110476212 0.2 [{'connected_gene': 'LOC644277', 'score': 10.22}, {'connected_gene': 'POU2AF1', 'score': 10.22}, {'connected_gene': 'FDX1', 'score': 0.25}, {'connected_gene': 'GC11P110684', 'score': 0.08}]
chr11 GH11I111440 111440638 111440699 0.4 [{'connected_gene': 'LOC644277', 'score': 0.44}, {'connected_gene': 'POU2AF1', 'score': 0.39}, {'connected_gene': 'LOC100132078', 'score': 0.34}, {'connected_gene': 'BTG4', 'score': 0.19}]
chr11 GH11I111702 111702384 111704371 0.4 [{'connected_gene': 'PPP2R1B', 'score': 15.85}, {'connected_gene': 'SIK2', 'score': 10.67}, {'connected_gene': 'LOC644277', 'score': 10.06}, {'connected_gene': 'POU2AF1', 'score': 10.06}, {'connected_gene': 'BTG4', 'score': 9.45}, {'connected_gene': 'C11orf88', 'score': 9.45}, {'connected_gene': 'MIR34C', 'score': 9.45}, {'connected_gene': 'MIR34B', 'score': 9.45}, {'connected_gene': 'PIR48599', 'score': 0.37}, {'connected_gene': 'RN7SKP273', 'score': 0.34}]
chr11 GH11I111441 111440749 111441920 0.58 [{'connected_gene': 'BTG4', 'score': 9.99}, {'connected_gene': 'MIR34C', 'score': 9.99}, {'connected_gene': 'C11orf88', 'score': 9.99}, {'connected_gene': 'MIR34B', 'score': 9.99}, {'connected_gene': 'LAYN', 'score': 9.94}, {'connected_gene': 'ENSG00000254980', 'score': 9.71}, {'connected_gene': 'LOC644277', 'score': 0.77}, {'connected_gene': 'POU2AF1', 'score': 0.39}, {'connected_gene': 'LOC100132078', 'score': 0.34}]
chr11 GH11I111528 111528756 111528905 0.38 [{'connected_gene': 'POU2AF1', 'score': 10.98}, {'connected_gene': 'LOC644277', 'score': 10.97}, {'connected_gene': 'ENSG00000254980', 'score': 0.77}, {'connected_gene': 'LAYN', 'score': 0.39}, {'connected_gene': 'C11orf88', 'score': 0.39}]
chr11 GH11I111531 111530093 111530423 0.2 [{'connected_gene': 'POU2AF1', 'score': 10.98}, {'connected_gene': 'LOC644277', 'score': 10.97}, {'connected_gene': 'ENSG00000254980', 'score': 0.77}, {'connected_gene': 'LAYN', 'score': 0.44}, {'connected_gene': 'C11orf88', 'score': 0.37}]
chr11 GH11I111530 111530602 111532543 1.35 [{'connected_gene': 'POU2AF1', 'score': 10.97}, {'connected_gene': 'LOC644277', 'score': 10.96}, {'connected_gene': 'COLCA2', 'score': 6.13}, {'connected_gene': 'LAYN', 'score': 5.57}, {'connected_gene': 'ENSG00000254980', 'score': 0.77}, {'connected_gene': 'C11orf88', 'score': 0.37}]
chr11 GH11I111436 111436601 111437200 1.23 [{'connected_gene': 'POU2AF1', 'score': 3.66}, {'connected_gene': 'LOC644277', 'score': 0.44}, {'connected_gene': 'LOC100132078', 'score': 0.37}, {'connected_gene': 'BTG4', 'score': 0.18}]
chr11 GH11I111454 111454356 111455617 0.79 [{'connected_gene': 'POU2AF1', 'score': 550.77}, {'connected_gene': 'PPP2R1B', 'score': 6.28}, {'connected_gene': 'SIK2', 'score': 5.0}, {'connected_gene': 'LOC644277', 'score': 0.44}, {'connected_gene': 'BTG4', 'score': 0.22}]
chr11 GH11I111375 111375933 111381040 1.7 [{'connected_gene': 'POU2AF1', 'score': 560.79}, {'connected_gene': 'COLCA1', 'score': 22.7}, {'connected_gene': 'COLCA2', 'score': 17.46}, {'connected_gene': 'LOC644277', 'score': 10.81}, {'connected_gene': 'BTG4', 'score': 9.24}, {'connected_gene': 'C11orf88', 'score': 9.24}, {'connected_gene': 'MIR34C', 'score': 9.24}, {'connected_gene': 'MIR34B', 'score': 9.24}, {'connected_gene': 'RNU2-60P', 'score': 0.77}, {'connected_gene': 'MIR4491', 'score': 0.29}]
chr11 GH11I111429 111429196 111429305 0.93 [{'connected_gene': 'POU2AF1', 'score': 11.96}, {'connected_gene': 'COLCA1', 'score': 11.77}, {'connected_gene': 'COLCA2', 'score': 11.76}, {'connected_gene': 'MIR34C', 'score': 10.57}, {'connected_gene': 'MIR34B', 'score': 10.57}, {'connected_gene': 'BTG4', 'score': 10.56}, {'connected_gene': 'C11orf88', 'score': 10.56}, {'connected_gene': 'RNU2-60P', 'score': 10.56}, {'connected_gene': 'LAYN', 'score': 10.01}, {'connected_gene': 'LOC100132078', 'score': 0.39}, {'connected_gene': 'LOC644277', 'score': 0.37}]
chr11 GH11I111420 111420598 111421772 0.31 [{'connected_gene': 'COLCA1', 'score': 16.97}, {'connected_gene': 'LOC644277', 'score': 11.99}, {'connected_gene': 'POU2AF1', 'score': 11.94}, {'connected_gene': 'COLCA2', 'score': 11.77}, {'connected_gene': 'RNU2-60P', 'score': 11.26}, {'connected_gene': 'BTG4', 'score': 10.55}, {'connected_gene': 'C11orf88', 'score': 10.55}, {'connected_gene': 'MIR34C', 'score': 10.55}, {'connected_gene': 'MIR34B', 'score': 10.55}, {'connected_gene': 'LAYN', 'score': 9.99}, {'connected_gene': 'LOC100132078', 'score': 8.38}]
chr11 GH11I111427 111427446 111427818 0.89 [{'connected_gene': 'COLCA1', 'score': 16.96}, {'connected_gene': 'POU2AF1', 'score': 16.62}, {'connected_gene': 'COLCA2', 'score': 11.77}, {'connected_gene': 'RNU2-60P', 'score': 10.57}, {'connected_gene': 'BTG4', 'score': 10.56}, {'connected_gene': 'C11orf88', 'score': 10.56}, {'connected_gene': 'MIR34C', 'score': 10.56}, {'connected_gene': 'MIR34B', 'score': 10.56}, {'connected_gene': 'LAYN', 'score': 10.0}, {'connected_gene': 'LOC100132078', 'score': 6.74}, {'connected_gene': 'FDXACB1', 'score': 1.34}, {'connected_gene': 'LOC644277', 'score': 0.37}]
chr11 GH11I111388 111387436 111387585 0.31 [{'connected_gene': 'COLCA1', 'score': 11.06}, {'connected_gene': 'COLCA2', 'score': 11.05}, {'connected_gene': 'GC11P111394', 'score': 0.77}, {'connected_gene': 'RNU2-60P', 'score': 0.77}, {'connected_gene': 'POU2AF1', 'score': 0.2}, {'connected_gene': 'BTG4', 'score': 0.13}]
chr11 GH11I111352 111352359 111353991 0.74 [{'connected_gene': 'COLCA1', 'score': 26.13}, {'connected_gene': 'COLCA2', 'score': 21.86}, {'connected_gene': 'RNU2-60P', 'score': 11.54}, {'connected_gene': 'MIR4491', 'score': 0.44}, {'connected_gene': 'POU2AF1', 'score': 0.15}]
chr11 GH11I111396 111396299 111401689 0.56 [{'connected_gene': 'COLCA1', 'score': 8.07}, {'connected_gene': 'COLCA2', 'score': 5.67}, {'connected_gene': 'LOC100132078', 'score': 4.4}, {'connected_gene': 'GC11P111394', 'score': 0.44}, {'connected_gene': 'GC11M111399', 'score': 0.44}, {'connected_gene': 'POU2AF1', 'score': 0.22}, {'connected_gene': 'BTG4', 'score': 0.13}]
chr11 GH11I111774 111774754 111775985 1.03 [{'connected_gene': 'SIK2', 'score': 12.51}, {'connected_gene': 'ALG9', 'score': 11.25}, {'connected_gene': 'POU2AF1', 'score': 10.46}, {'connected_gene': 'LOC644277', 'score': 10.46}, {'connected_gene': 'LAYN', 'score': 9.88}, {'connected_gene': 'BTG4', 'score': 9.81}, {'connected_gene': 'C11orf88', 'score': 9.81}, {'connected_gene': 'MIR34C', 'score': 9.81}, {'connected_gene': 'MIR34B', 'score': 9.81}, {'connected_gene': 'ENSG00000254980', 'score': 9.61}, {'connected_gene': 'ENSG00000254990', 'score': 0.77}, {'connected_gene': 'PPP2R1B', 'score': 0.44}]
chr11 GH11I111553 111553793 111559152 0.96 [{'connected_gene': 'SIK2', 'score': 11.31}, {'connected_gene': 'ENSG00000254980', 'score': 10.92}, {'connected_gene': 'POU2AF1', 'score': 10.64}, {'connected_gene': 'LOC644277', 'score': 10.63}, {'connected_gene': 'BTG4', 'score': 10.32}, {'connected_gene': 'C11orf88', 'score': 10.32}, {'connected_gene': 'MIR34C', 'score': 10.32}, {'connected_gene': 'MIR34B', 'score': 10.32}, {'connected_gene': 'ALG9', 'score': 10.27}, {'connected_gene': 'PPP2R1B', 'score': 9.89}, {'connected_gene': 'LAYN', 'score': 6.94}]
chr11 GH11I111559 111559615 111563489 1.09 [{'connected_gene': 'SIK2', 'score': 19.91}, {'connected_gene': 'LAYN', 'score': 18.98}, {'connected_gene': 'ENSG00000254980', 'score': 10.9}, {'connected_gene': 'BTG4', 'score': 10.72}, {'connected_gene': 'C11orf88', 'score': 10.72}, {'connected_gene': 'MIR34C', 'score': 10.72}, {'connected_gene': 'MIR34B', 'score': 10.72}, {'connected_gene': 'POU2AF1', 'score': 10.64}, {'connected_gene': 'LOC644277', 'score': 10.62}, {'connected_gene': 'PPP2R1B', 'score': 10.5}, {'connected_gene': 'ALG9', 'score': 10.27}]
chr11 GH11I111374 111374079 111374137 0.42 [{'connected_gene': 'COLCA2', 'score': 16.57}, {'connected_gene': 'COLCA1', 'score': 11.38}, {'connected_gene': 'MIR34C', 'score': 9.24}, {'connected_gene': 'MIR34B', 'score': 9.24}, {'connected_gene': 'BTG4', 'score': 9.23}, {'connected_gene': 'C11orf88', 'score': 9.23}, {'connected_gene': 'POU2AF1', 'score': 1.57}, {'connected_gene': 'RNU2-60P', 'score': 0.44}, {'connected_gene': 'MIR4491', 'score': 0.31}]
chr11 GH11I111357 111357075 111372733 1.44 [{'connected_gene': 'COLCA2', 'score': 26.67}, {'connected_gene': 'COLCA1', 'score': 23.1}, {'connected_gene': 'LAYN', 'score': 9.56}, {'connected_gene': 'BTG4', 'score': 9.24}, {'connected_gene': 'MIR34C', 'score': 9.24}, {'connected_gene': 'C11orf88', 'score': 9.24}, {'connected_gene': 'MIR34B', 'score': 9.24}, {'connected_gene': 'POU2AF1', 'score': 3.2}, {'connected_gene': 'MIR4491', 'score': 0.37}, {'connected_gene': 'RNU2-60P', 'score': 0.37}]
chr11 GH11I111387 111387871 111390058 0.2 [{'connected_gene': 'COLCA2', 'score': 21.26}, {'connected_gene': 'COLCA1', 'score': 11.06}, {'connected_gene': 'GC11P111394', 'score': 0.77}, {'connected_gene': 'RNU2-60P', 'score': 0.44}, {'connected_gene': 'POU2AF1', 'score': 0.2}, {'connected_gene': 'BTG4', 'score': 0.13}]
chr11 GH11I111409 111409221 111410635 0.91 [{'connected_gene': 'RNU2-60P', 'score': 11.64}, {'connected_gene': 'LOC100132078', 'score': 6.15}, {'connected_gene': 'COLCA1', 'score': 5.09}, {'connected_gene': 'BCO2', 'score': 4.8}, {'connected_gene': 'GC11M111399', 'score': 0.77}, {'connected_gene': 'GC11P111394', 'score': 0.37}, {'connected_gene': 'POU2AF1', 'score': 0.25}, {'connected_gene': 'BTG4', 'score': 0.15}]
chr11 GH11I111402 111402164 111404118 0.52 [{'connected_gene': 'RNU2-60P', 'score': 11.99}, {'connected_gene': 'LOC100132078', 'score': 4.47}, {'connected_gene': 'COLCA2', 'score': 4.21}, {'connected_gene': 'GC11M111399', 'score': 0.77}, {'connected_gene': 'GC11P111394', 'score': 0.39}, {'connected_gene': 'POU2AF1', 'score': 0.23}, {'connected_gene': 'BTG4', 'score': 0.14}]
chr11 GH11I111419 111419816 111419985 0.69 [{'connected_gene': 'LOC100132078', 'score': 550.77}, {'connected_gene': 'COLCA1', 'score': 11.42}, {'connected_gene': 'COLCA2', 'score': 11.41}, {'connected_gene': 'RNU2-60P', 'score': 11.26}, {'connected_gene': 'LOC644277', 'score': 0.31}, {'connected_gene': 'POU2AF1', 'score': 0.28}, {'connected_gene': 'BTG4', 'score': 0.16}]
chr11 GH11I111413 111413398 111419799 1.27 [{'connected_gene': 'LOC100132078', 'score': 558.25}, {'connected_gene': 'COLCA1', 'score': 17.74}, {'connected_gene': 'RNU2-60P', 'score': 11.83}, {'connected_gene': 'COLCA2', 'score': 11.42}, {'connected_gene': 'BTG4', 'score': 9.96}, {'connected_gene': 'C11orf88', 'score': 9.96}, {'connected_gene': 'MIR34C', 'score': 9.96}, {'connected_gene': 'MIR34B', 'score': 9.96}, {'connected_gene': 'BCO2', 'score': 5.74}, {'connected_gene': 'GC11M111399', 'score': 0.39}, {'connected_gene': 'POU2AF1', 'score': 0.28}]
chr11 GH11I111776 111776511 111779248 1.29 [{'connected_gene': 'ENSG00000254990', 'score': 550.77}, {'connected_gene': 'PPP2R1B', 'score': 24.45}, {'connected_gene': 'SIK2', 'score': 12.51}, {'connected_gene': 'LOC644277', 'score': 10.46}, {'connected_gene': 'POU2AF1', 'score': 10.46}, {'connected_gene': 'BTG4', 'score': 9.81}, {'connected_gene': 'C11orf88', 'score': 9.81}, {'connected_gene': 'MIR34C', 'score': 9.81}, {'connected_gene': 'MIR34B', 'score': 9.81}, {'connected_gene': 'ENSG00000254980', 'score': 9.61}]
chr11 GH11I111510 111510063 111511409 0.43 [{'connected_gene': 'GC11P111545', 'score': 0.77}, {'connected_gene': 'BTG4', 'score': 0.77}, {'connected_gene': 'GC11P111539', 'score': 0.77}, {'connected_gene': 'GC11P111544', 'score': 0.77}, {'connected_gene': 'POU2AF1', 'score': 0.22}]
chr11 GH11I111525 111525834 111527385 0.83 [{'connected_gene': 'ENSG00000254980', 'score': 550.77}, {'connected_gene': 'POU2AF1', 'score': 10.98}, {'connected_gene': 'LOC644277', 'score': 10.97}, {'connected_gene': 'C11orf88', 'score': 0.39}]
chr11 GH11I111394 111394356 111394505 0.46 [{'connected_gene': 'GC11P111394', 'score': 0.77}, {'connected_gene': 'GC11M111399', 'score': 0.39}, {'connected_gene': 'POU2AF1', 'score': 0.21}, {'connected_gene': 'BTG4', 'score': 0.13}]

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