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
ENST00000320634 [[50260678, 50264436], [50281168, 50281222], [50282889, 50282985], [50283263, 50283351], [50283899, 50283937], [50284465, 50284505], [50284846, 50284897], [50290813, 50290867], [50291301, 50291366], [50291769, 50291873], [50294912, 50295108], [50297560, 50297670]] [[50264286, 50264436], [50281168, 50281222], [50282889, 50282985], [50283263, 50283351], [50283899, 50283937], [50284465, 50284505], [50284846, 50284897], [50290813, 50290867], [50291301, 50291366], [50291769, 50291873], [50294912, 50295108], [50297560, 50297575]]
ENST00000550890 [[50264182, 50264436], [50281168, 50281222], [50282889, 50282985], [50283263, 50283351], [50283899, 50283937], [50284465, 50284505], [50284846, 50284897], [50290813, 50290867], [50291301, 50291366], [50291769, 50291873], [50294912, 50296162]] [[50264286, 50264436], [50281168, 50281222], [50282889, 50282985], [50283263, 50283351], [50283899, 50283937], [50284465, 50284505], [50284846, 50284897], [50290813, 50290867], [50291301, 50291366], [50291769, 50291873], [50294912, 50294985]]
ENST00000550195 [[50264197, 50264436], [50281168, 50281222], [50282889, 50282985], [50283899, 50283937], [50284465, 50284505], [50284846, 50284897], [50290813, 50290867], [50291301, 50291384], [50291769, 50291873], [50294912, 50295108], [50297560, 50297652]] [[50282939, 50282985], [50283899, 50283937], [50284465, 50284505], [50284846, 50284897], [50290813, 50290867], [50291301, 50291384], [50291769, 50291873], [50294912, 50295108], [50297560, 50297575]]
ENST00000552669 [[50264313, 50264436], [50281168, 50281222], [50282889, 50282985], [50283263, 50283351], [50283899, 50283937], [50284465, 50284505], [50284846, 50284897], [50290813, 50290867], [50291301, 50291366], [50291769, 50291873], [50293938, 50294040]] [[50264313, 50264436], [50281168, 50281222], [50282889, 50282985], [50283263, 50283351], [50283899, 50283937], [50284465, 50284505], [50284846, 50284897], [50290813, 50290867], [50291301, 50291366], [50291769, 50291873], [50293938, 50294023]]
ENST00000552863 [[50264355, 50264436], [50282889, 50282985], [50283263, 50283351], [50283899, 50283937], [50284465, 50284505], [50284846, 50284897], [50290813, 50290852]] [[50264355, 50264436], [50282889, 50282985], [50283263, 50283351], [50283899, 50283937], [50284465, 50284505], [50284846, 50284897], [50290813, 50290852]]
ENST00000550635 [[50282890, 50282985], [50283263, 50283351], [50283899, 50283937], [50284465, 50284505], [50284846, 50284897], [50290813, 50290867], [50291301, 50291366], [50291769, 50291873], [50294912, 50295108], [50297560, 50297765], [50297956, 50298000]] [[50282890, 50282985], [50283263, 50283351], [50283899, 50283937], [50284465, 50284505], [50284846, 50284897], [50290813, 50290867], [50291301, 50291366], [50291769, 50291873], [50294912, 50295108], [50297560, 50297575]]
ENST00000547871 [[50284859, 50284897], [50290813, 50290867], [50291301, 50291366], [50291769, 50291873], [50294912, 50295108], [50296608, 50296698]] [[50284859, 50284897], [50290813, 50290867], [50291301, 50291366], [50291769, 50291873], [50294912, 50294985]]
NM_012306 [[50260678, 50264436], [50281168, 50281222], [50282889, 50282985], [50283263, 50283351], [50283899, 50283937], [50284465, 50284505], [50284846, 50284897], [50290813, 50290867], [50291301, 50291366], [50291769, 50291873], [50294912, 50295108], [50297560, 50297760]] [[50264286, 50264436], [50281168, 50281222], [50282889, 50282985], [50283263, 50283351], [50283899, 50283937], [50284465, 50284505], [50284846, 50284897], [50290813, 50290867], [50291301, 50291366], [50291769, 50291873], [50294912, 50295108], [50297560, 50297575]]
Promoter
Chrom Start End Description
chr12 50264275 50264286 CAGE_peak_9_at_FAIM2_5end
chr12 50264369 50264380 CAGE_peak_13_at_FAIM2_5end
chr12 50264423 50264442 CAGE_peak_10_at_FAIM2_5end
chr12 50290839 50290873 CAGE_peak_8_at_FAIM2_5end
chr12 50291331 50291372 CAGE_peak_6_at_FAIM2_5end
chr12 50294033 50294044 CAGE_peak_11_at_FAIM2_5end
chr12 50294050 50294065 CAGE_peak_5_at_FAIM2_5end
chr12 50297638 50297691 CAGE_peak_1_at_FAIM2_5end
chr12 50297697 50297724 CAGE_peak_2_at_FAIM2_5end
chr12 50297897 50297941 CAGE_peak_3_at_FAIM2_5end
chr12 50298005 50298052 CAGE_peak_4_at_FAIM2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I049748 49748611 49751770 1.33 [{'connected_gene': 'TMBIM6', 'score': 15.9}, {'connected_gene': 'BCDIN3D-AS1', 'score': 15.22}, {'connected_gene': 'SMARCD1', 'score': 13.83}, {'connected_gene': 'LMBR1L', 'score': 13.27}, {'connected_gene': 'FAIM2', 'score': 11.45}, {'connected_gene': 'NCKAP5L', 'score': 11.1}, {'connected_gene': 'FMNL3', 'score': 11.06}, {'connected_gene': 'BCDIN3D', 'score': 10.13}, {'connected_gene': 'DDX23', 'score': 10.01}, {'connected_gene': 'TUBA1C', 'score': 4.53}, {'connected_gene': 'DNAJC22', 'score': 4.51}, {'connected_gene': 'PIR62478', 'score': 0.44}, {'connected_gene': 'PIR31272', 'score': 0.39}]
chr12 GH12I049823 49823366 49829670 2.5 [{'connected_gene': 'NCKAP5L', 'score': 553.27}, {'connected_gene': 'SMARCD1', 'score': 17.51}, {'connected_gene': 'LMBR1L', 'score': 13.74}, {'connected_gene': 'FAIM2', 'score': 12.73}, {'connected_gene': 'ASIC1', 'score': 12.69}, {'connected_gene': 'DDX23', 'score': 12.48}, {'connected_gene': 'BCDIN3D-AS1', 'score': 11.55}, {'connected_gene': 'CERS5', 'score': 10.88}, {'connected_gene': 'KMT2D', 'score': 10.28}, {'connected_gene': 'TUBA1A', 'score': 9.95}, {'connected_gene': 'ENSG00000272368', 'score': 9.88}, {'connected_gene': 'RPL35AP28', 'score': 4.55}, {'connected_gene': 'NMTRQ-TTG6-1', 'score': 0.44}]
chr12 GH12I050760 50760573 50761614 0.51 [{'connected_gene': 'DIP2B', 'score': 7.73}, {'connected_gene': 'FAIM2', 'score': 4.13}, {'connected_gene': 'ENSG00000271018', 'score': 0.77}, {'connected_gene': 'ATF1', 'score': 0.77}]
chr12 GH12I049931 49931018 49931495 1.05 [{'connected_gene': 'ASIC1', 'score': 10.24}, {'connected_gene': 'FAIM2', 'score': 7.27}, {'connected_gene': 'FMNL3', 'score': 6.0}, {'connected_gene': 'NCKAP5L', 'score': 1.53}, {'connected_gene': 'LOC105369763', 'score': 0.39}, {'connected_gene': 'LINC02395', 'score': 0.37}]
chr12 GH12I050057 50056338 50056547 0.95 [{'connected_gene': 'ASIC1', 'score': 550.77}, {'connected_gene': 'BCDIN3D-AS1', 'score': 15.12}, {'connected_gene': 'FAIM2', 'score': 11.45}, {'connected_gene': 'RACGAP1', 'score': 0.34}]
chr12 GH12I048956 48955330 48958306 2.07 [{'connected_gene': 'ARF3', 'score': 559.87}, {'connected_gene': 'ENSG00000272822', 'score': 550.77}, {'connected_gene': 'CCNT1', 'score': 36.4}, {'connected_gene': 'KANSL2', 'score': 36.12}, {'connected_gene': 'LMBR1L', 'score': 34.73}, {'connected_gene': 'LOC390314', 'score': 34.45}, {'connected_gene': 'DDX23', 'score': 28.49}, {'connected_gene': 'KMT2D', 'score': 27.87}, {'connected_gene': 'SENP1', 'score': 24.27}, {'connected_gene': 'PRPF40B', 'score': 20.2}, {'connected_gene': 'LOC101927267', 'score': 19.09}, {'connected_gene': 'CCDC65', 'score': 15.35}, {'connected_gene': 'BCDIN3D-AS1', 'score': 15.07}, {'connected_gene': 'OR5BK1P', 'score': 13.53}, {'connected_gene': 'ADCY6', 'score': 13.14}, {'connected_gene': 'CCDC184', 'score': 12.84}, {'connected_gene': 'PRPH', 'score': 12.22}, {'connected_gene': 'LOC100422296', 'score': 11.63}, {'connected_gene': 'FAIM2', 'score': 11.37}, {'connected_gene': 'DHH', 'score': 10.69}, {'connected_gene': 'FAM186B', 'score': 10.53}, {'connected_gene': 'FKBP11', 'score': 10.46}, {'connected_gene': 'ENSG00000257964', 'score': 10.03}, {'connected_gene': 'LOC105369760', 'score': 10.02}, {'connected_gene': 'OR8T1P', 'score': 9.77}, {'connected_gene': 'BCDIN3D', 'score': 9.72}, {'connected_gene': 'WNT10B', 'score': 7.06}, {'connected_gene': 'ENSG00000255863', 'score': 0.37}]
chr12 GH12I049933 49933281 49934412 0.38 [{'connected_gene': 'AQP5', 'score': 11.35}, {'connected_gene': 'AQP6', 'score': 11.33}, {'connected_gene': 'ASIC1', 'score': 10.43}, {'connected_gene': 'FAIM2', 'score': 5.53}, {'connected_gene': 'LOC105369763', 'score': 0.44}, {'connected_gene': 'LINC02395', 'score': 0.34}]
chr12 GH12I049887 49887304 49893716 0.87 [{'connected_gene': 'AQP2', 'score': 10.89}, {'connected_gene': 'FAIM2', 'score': 6.99}, {'connected_gene': 'GC12M049898', 'score': 0.39}, {'connected_gene': 'RPL35AP28', 'score': 0.31}]
chr12 GH12I049909 49909478 49910406 1 [{'connected_gene': 'LINC02396', 'score': 550.77}, {'connected_gene': 'FAIM2', 'score': 25.59}]
chr12 GH12I050762 50762002 50767591 2.29 [{'connected_gene': 'ATF1', 'score': 586.54}, {'connected_gene': 'HNRNPA3P10', 'score': 14.8}, {'connected_gene': 'SLC11A2', 'score': 14.3}, {'connected_gene': 'SMARCD1', 'score': 13.93}, {'connected_gene': 'BCDIN3D', 'score': 13.53}, {'connected_gene': 'LIMA1', 'score': 10.64}, {'connected_gene': 'RNU6-1273P', 'score': 10.61}, {'connected_gene': 'RNU6-769P', 'score': 9.76}, {'connected_gene': 'FAM186A', 'score': 9.41}, {'connected_gene': 'LARP4', 'score': 9.41}, {'connected_gene': 'CERS5', 'score': 9.35}, {'connected_gene': 'DIP2B', 'score': 9.04}, {'connected_gene': 'ENSG00000272368', 'score': 4.01}, {'connected_gene': 'FAIM2', 'score': 3.82}, {'connected_gene': 'ENSG00000271490', 'score': 0.26}]
chr12 GH12I050070 50070401 50071129 1.1 [{'connected_gene': 'CERS5', 'score': 26.69}, {'connected_gene': 'ENSG00000272368', 'score': 20.12}, {'connected_gene': 'ASIC1', 'score': 13.01}, {'connected_gene': 'FAIM2', 'score': 12.65}, {'connected_gene': 'FAM186A', 'score': 11.56}, {'connected_gene': 'SLC11A2', 'score': 11.41}, {'connected_gene': 'FAM186B', 'score': 10.88}, {'connected_gene': 'BCDIN3D-AS1', 'score': 10.85}, {'connected_gene': 'ENSG00000257298', 'score': 10.33}, {'connected_gene': 'PRPF40B', 'score': 10.29}, {'connected_gene': 'PRPH', 'score': 10.04}, {'connected_gene': 'TUBA1A', 'score': 9.94}, {'connected_gene': 'DHH', 'score': 9.9}, {'connected_gene': 'LOC100422296', 'score': 9.83}, {'connected_gene': 'LMBR1L', 'score': 9.79}, {'connected_gene': 'GC12P050064', 'score': 0.44}, {'connected_gene': 'SMARCD1', 'score': 0.39}]
chr12 GH12I049905 49905393 49908173 0.46 [{'connected_gene': 'FAIM2', 'score': 33.78}, {'connected_gene': 'LINC02396', 'score': 0.44}]
chr12 GH12I049913 49913573 49914923 0.66 [{'connected_gene': 'FAIM2', 'score': 15.3}, {'connected_gene': 'LINC02395', 'score': 0.77}, {'connected_gene': 'LOC105369763', 'score': 0.31}]
chr12 GH12I049896 49896622 49898182 0.38 [{'connected_gene': 'FAIM2', 'score': 6.39}, {'connected_gene': 'ENSG00000257253', 'score': 5.98}, {'connected_gene': 'GC12M049898', 'score': 0.44}, {'connected_gene': 'RPL35AP28', 'score': 0.29}]
chr12 GH12I049894 49894034 49895903 0.99 [{'connected_gene': 'FAIM2', 'score': 6.06}, {'connected_gene': 'GC12M049898', 'score': 0.44}, {'connected_gene': 'RPL35AP28', 'score': 0.29}]
chr12 GH12I049902 49902377 49905030 1.91 [{'connected_gene': 'FAIM2', 'score': 583.19}, {'connected_gene': 'GC12M049898', 'score': 550.77}]
chr12 GH12I049841 49841541 49844129 2.04 [{'connected_gene': 'BCDIN3D', 'score': 564.28}, {'connected_gene': 'DDX23', 'score': 23.17}, {'connected_gene': 'KMT2D', 'score': 17.56}, {'connected_gene': 'ATF1', 'score': 16.34}, {'connected_gene': 'SMARCD1', 'score': 13.97}, {'connected_gene': 'LMBR1L', 'score': 13.23}, {'connected_gene': 'LIMA1', 'score': 10.64}, {'connected_gene': 'CCDC65', 'score': 4.91}, {'connected_gene': 'FAIM2', 'score': 4.4}, {'connected_gene': 'NCKAP5L', 'score': 0.39}]
chr12 GH12I049867 49867218 49870405 1.47 [{'connected_gene': 'LOC100422296', 'score': 33.7}, {'connected_gene': 'PRPF40B', 'score': 24.88}, {'connected_gene': 'KMT2D', 'score': 17.56}, {'connected_gene': 'ATF1', 'score': 16.34}, {'connected_gene': 'ENSG00000257964', 'score': 14.09}, {'connected_gene': 'SMARCD1', 'score': 13.98}, {'connected_gene': 'BCDIN3D', 'score': 13.82}, {'connected_gene': 'LMBR1L', 'score': 13.23}, {'connected_gene': 'NCKAP5L', 'score': 10.87}, {'connected_gene': 'LIMA1', 'score': 10.64}, {'connected_gene': 'FMNL3', 'score': 10.23}, {'connected_gene': 'TMBIM6', 'score': 9.52}, {'connected_gene': 'FAIM2', 'score': 4.79}, {'connected_gene': 'RPL35AP28', 'score': 0.44}, {'connected_gene': 'GC12M049898', 'score': 0.29}]
chr12 GH12I049055 49055133 49061872 2.09 [{'connected_gene': 'GC12P049057', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 74.87}, {'connected_gene': 'LOC390314', 'score': 67.83}, {'connected_gene': 'LMBR1L', 'score': 60.67}, {'connected_gene': 'CCNT1', 'score': 53.48}, {'connected_gene': 'KANSL2', 'score': 51.65}, {'connected_gene': 'KMT2D', 'score': 47.76}, {'connected_gene': 'LOC100422296', 'score': 43.41}, {'connected_gene': 'SENP1', 'score': 42.32}, {'connected_gene': 'PRPF40B', 'score': 41.05}, {'connected_gene': 'OR5BK1P', 'score': 31.21}, {'connected_gene': 'BCDIN3D', 'score': 27.59}, {'connected_gene': 'ADCY6', 'score': 21.11}, {'connected_gene': 'DDN', 'score': 19.98}, {'connected_gene': 'ENSG00000257964', 'score': 19.91}, {'connected_gene': 'CACNB3', 'score': 19.75}, {'connected_gene': 'LOC101927267', 'score': 19.69}, {'connected_gene': 'SPATS2', 'score': 18.26}, {'connected_gene': 'LOC102725258', 'score': 18.24}, {'connected_gene': 'CCDC184', 'score': 15.18}, {'connected_gene': 'ASIC1', 'score': 12.64}, {'connected_gene': 'FAIM2', 'score': 12.57}, {'connected_gene': 'BCDIN3D-AS1', 'score': 10.81}, {'connected_gene': 'TUBA1A', 'score': 10.03}, {'connected_gene': 'CCDC65', 'score': 8.14}, {'connected_gene': 'DHH', 'score': 3.93}, {'connected_gene': 'GC12M049057', 'score': 0.77}]
chr12 GH12I049876 49876649 49884105 0.79 [{'connected_gene': 'ENSG00000257298', 'score': 19.11}, {'connected_gene': 'ENSG00000257964', 'score': 13.9}, {'connected_gene': 'LIMA1', 'score': 13.78}, {'connected_gene': 'LOC100422296', 'score': 13.26}, {'connected_gene': 'PRPF40B', 'score': 11.57}, {'connected_gene': 'PRPH', 'score': 10.83}, {'connected_gene': 'BCDIN3D', 'score': 10.58}, {'connected_gene': 'LMBR1L', 'score': 10.47}, {'connected_gene': 'AQP2', 'score': 10.45}, {'connected_gene': 'TUBA1A', 'score': 9.7}, {'connected_gene': 'FAIM2', 'score': 6.36}, {'connected_gene': 'LINC02395', 'score': 4.3}, {'connected_gene': 'ENSG00000272368', 'score': 4.14}, {'connected_gene': 'C1QL4', 'score': 4.14}, {'connected_gene': 'RPL35AP28', 'score': 0.37}, {'connected_gene': 'GC12M049898', 'score': 0.34}]
chr12 GH12I049871 49871383 49872637 0.58 [{'connected_gene': 'ENSG00000257253', 'score': 5.0}, {'connected_gene': 'RPL35AP28', 'score': 0.44}, {'connected_gene': 'GC12M049898', 'score': 0.29}, {'connected_gene': 'FAIM2', 'score': 0.29}]

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