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
ENST00000357869 [[49159974, 49162499], [49162719, 49162844], [49164548, 49164753], [49165492, 49165756], [49166077, 49166207], [49166290, 49166326], [49167251, 49167430], [49168184, 49168301], [49168473, 49168561], [49168739, 49168837], [49169085, 49169233], [49169455, 49169481], [49169745, 49169874], [49169991, 49170133], [49170210, 49170369], [49170886, 49171014], [49171192, 49171304], [49171397, 49171519], [49171890, 49172040], [49176353, 49177877]] [[49162373, 49162499], [49162719, 49162844], [49164548, 49164753], [49165492, 49165756], [49166077, 49166207], [49166290, 49166326], [49167251, 49167430], [49168184, 49168301], [49168473, 49168561], [49168739, 49168837], [49169085, 49169233], [49169455, 49169481], [49169745, 49169874], [49169991, 49170133], [49170210, 49170369], [49170886, 49171014], [49171192, 49171304], [49171397, 49171519], [49171890, 49172040], [49176353, 49177217]]
ENST00000547260 [[49159976, 49162499], [49162719, 49162844], [49164548, 49165756], [49166077, 49166207], [49166290, 49166326], [49167251, 49167430], [49167722, 49168279]] None
ENST00000550422 [[49159980, 49162499], [49162719, 49162844], [49164548, 49164753], [49165492, 49165756], [49166077, 49166207], [49166290, 49166326], [49167251, 49167430], [49168184, 49168301], [49168473, 49168561], [49168739, 49168837], [49169085, 49169233], [49169455, 49169481], [49169745, 49169874], [49169991, 49170133], [49170210, 49170369], [49170886, 49171014], [49171192, 49171304], [49171397, 49171519], [49171890, 49172040], [49176353, 49177221], [49182688, 49182820]] [[49162373, 49162499], [49162719, 49162844], [49164548, 49164753], [49165492, 49165756], [49166077, 49166207], [49166290, 49166326], [49167251, 49167430], [49168184, 49168301], [49168473, 49168561], [49168739, 49168837], [49169085, 49169233], [49169455, 49169481], [49169745, 49169874], [49169991, 49170133], [49170210, 49170369], [49170886, 49171014], [49171192, 49171304], [49171397, 49171519], [49171890, 49172040], [49176353, 49177217]]
ENST00000307885 [[49160111, 49162499], [49162719, 49162844], [49164548, 49164753], [49165492, 49165756], [49166077, 49166207], [49166290, 49166326], [49167251, 49167430], [49167722, 49167881], [49168184, 49168301], [49168473, 49168561], [49168739, 49168837], [49169085, 49169233], [49169455, 49169481], [49169745, 49169874], [49169991, 49170133], [49170210, 49170369], [49170886, 49171014], [49171192, 49171304], [49171397, 49171519], [49171890, 49172040], [49176353, 49177912]] [[49162373, 49162499], [49162719, 49162844], [49164548, 49164753], [49165492, 49165756], [49166077, 49166207], [49166290, 49166326], [49167251, 49167430], [49167722, 49167881], [49168184, 49168301], [49168473, 49168561], [49168739, 49168837], [49169085, 49169233], [49169455, 49169481], [49169745, 49169874], [49169991, 49170133], [49170210, 49170369], [49170886, 49171014], [49171192, 49171304], [49171397, 49171519], [49171890, 49172040], [49176353, 49177217]]
ENST00000552099 [[49165039, 49165756], [49166077, 49166207], [49166290, 49166326], [49167251, 49167881], [49168184, 49168301], [49168473, 49168537]] None
ENST00000548351 [[49165525, 49165756], [49166077, 49166122], [49166290, 49166326], [49167251, 49167430], [49167722, 49167807]] None
ENST00000552090 [[49167725, 49167881], [49168184, 49168289], [49168739, 49168837], [49169085, 49169233], [49169455, 49169481], [49169745, 49169874], [49169991, 49170133], [49170210, 49170267]] None
ENST00000551435 [[49170076, 49170133], [49170210, 49170369], [49170886, 49171304], [49171397, 49171519], [49171890, 49171968]] None
ENST00000548820 [[49171454, 49171519], [49171890, 49172207]] [[49171454, 49171519], [49171890, 49172073]]
NM_015270 [[49159973, 49162499], [49162719, 49162844], [49164548, 49164753], [49165492, 49165756], [49166077, 49166207], [49166290, 49166326], [49167251, 49167430], [49167722, 49167881], [49168184, 49168301], [49168473, 49168561], [49168739, 49168837], [49169085, 49169233], [49169455, 49169481], [49169745, 49169874], [49169991, 49170133], [49170210, 49170369], [49170886, 49171014], [49171192, 49171304], [49171397, 49171519], [49171890, 49172040], [49176353, 49177221], [49182688, 49182879]] [[49162373, 49162499], [49162719, 49162844], [49164548, 49164753], [49165492, 49165756], [49166077, 49166207], [49166290, 49166326], [49167251, 49167430], [49167722, 49167881], [49168184, 49168301], [49168473, 49168561], [49168739, 49168837], [49169085, 49169233], [49169455, 49169481], [49169745, 49169874], [49169991, 49170133], [49170210, 49170369], [49170886, 49171014], [49171192, 49171304], [49171397, 49171519], [49171890, 49172040], [49176353, 49177217]]
Promoter
Chrom Start End Description
chr12 49182783 49182886 CAGE_peak_1_at_ADCY6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I049263 49263246 49269811 2.33 [{'connected_gene': 'TUBA1C', 'score': 558.41}, {'connected_gene': 'ENSG00000258101', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 109.13}, {'connected_gene': 'KMT2D', 'score': 88.59}, {'connected_gene': 'CCNT1', 'score': 87.01}, {'connected_gene': 'LMBR1L', 'score': 74.64}, {'connected_gene': 'LOC390314', 'score': 72.66}, {'connected_gene': 'KANSL2', 'score': 70.28}, {'connected_gene': 'SMARCD1', 'score': 70.27}, {'connected_gene': 'BCDIN3D', 'score': 63.71}, {'connected_gene': 'ENSG00000257298', 'score': 33.03}, {'connected_gene': 'ENSG00000257964', 'score': 29.96}, {'connected_gene': 'PRPH', 'score': 22.63}, {'connected_gene': 'LOC101927267', 'score': 21.64}, {'connected_gene': 'C1QL4', 'score': 18.38}, {'connected_gene': 'LOC100422296', 'score': 12.79}, {'connected_gene': 'PRPF40B', 'score': 10.76}, {'connected_gene': 'CACNB3', 'score': 10.02}, {'connected_gene': 'SPATS2', 'score': 9.94}, {'connected_gene': 'ADCY6', 'score': 9.77}, {'connected_gene': 'ZNF641', 'score': 9.74}, {'connected_gene': 'LOC105369760', 'score': 6.08}, {'connected_gene': 'TUBA1B', 'score': 4.73}, {'connected_gene': 'ENSG00000258232', 'score': 0.44}]
chr12 GH12I048785 48785896 48786562 0.31 [{'connected_gene': 'CACNB3', 'score': 7.49}, {'connected_gene': 'ADCY6', 'score': 0.77}, {'connected_gene': 'MIR4701', 'score': 0.39}]
chr12 GH12I048779 48779395 48782158 1.1 [{'connected_gene': 'CACNB3', 'score': 7.57}, {'connected_gene': 'MIR4701', 'score': 0.44}, {'connected_gene': 'ADCY6', 'score': 0.44}]
chr12 GH12I049740 49740753 49745082 2.3 [{'connected_gene': 'TMBIM6', 'score': 566.01}, {'connected_gene': 'PIR62478', 'score': 550.77}, {'connected_gene': 'LMBR1L', 'score': 42.32}, {'connected_gene': 'DDX23', 'score': 40.99}, {'connected_gene': 'KMT2D', 'score': 36.53}, {'connected_gene': 'SMARCD1', 'score': 27.6}, {'connected_gene': 'LOC390314', 'score': 23.33}, {'connected_gene': 'ENSG00000257298', 'score': 20.05}, {'connected_gene': 'BCDIN3D', 'score': 18.35}, {'connected_gene': 'FAM186B', 'score': 17.57}, {'connected_gene': 'LIMA1', 'score': 13.94}, {'connected_gene': 'LOC100422296', 'score': 12.85}, {'connected_gene': 'ENSG00000257964', 'score': 11.58}, {'connected_gene': 'FMNL3', 'score': 11.5}, {'connected_gene': 'MCRS1', 'score': 10.77}, {'connected_gene': 'NCKAP5L', 'score': 10.44}, {'connected_gene': 'ADCY6', 'score': 9.75}, {'connected_gene': 'SPATS2', 'score': 7.33}, {'connected_gene': 'PIR31272', 'score': 0.34}]
chr12 GH12I048681 48681000 48683200 2.08 [{'connected_gene': 'KANSL2', 'score': 626.07}, {'connected_gene': 'SENP1', 'score': 52.44}, {'connected_gene': 'CCNT1', 'score': 52.23}, {'connected_gene': 'DDX23', 'score': 43.45}, {'connected_gene': 'KMT2D', 'score': 36.83}, {'connected_gene': 'RPAP3', 'score': 36.53}, {'connected_gene': 'LMBR1L', 'score': 22.92}, {'connected_gene': 'ENSG00000257964', 'score': 21.43}, {'connected_gene': 'PRPF40B', 'score': 21.38}, {'connected_gene': 'LOC390314', 'score': 21.38}, {'connected_gene': 'FAM186B', 'score': 17.48}, {'connected_gene': 'LOC100422296', 'score': 12.76}, {'connected_gene': 'HDAC7', 'score': 9.99}, {'connected_gene': 'ADCY6', 'score': 9.87}, {'connected_gene': 'LOC102725258', 'score': 9.68}, {'connected_gene': 'GC12M048339', 'score': 0.44}, {'connected_gene': 'SNORA2B', 'score': 0.39}, {'connected_gene': 'GC12M048670', 'score': 0.39}, {'connected_gene': 'GC12M048673', 'score': 0.39}]
chr12 GH12I049296 49296033 49298244 1.16 [{'connected_gene': 'LIMA1', 'score': 27.41}, {'connected_gene': 'LOC100422296', 'score': 25.51}, {'connected_gene': 'BCDIN3D', 'score': 21.57}, {'connected_gene': 'ENSG00000257298', 'score': 20.03}, {'connected_gene': 'OR5BK1P', 'score': 19.6}, {'connected_gene': 'CCNT1', 'score': 16.46}, {'connected_gene': 'DDX23', 'score': 15.6}, {'connected_gene': 'KANSL2', 'score': 15.5}, {'connected_gene': 'LOC390314', 'score': 14.43}, {'connected_gene': 'KMT2D', 'score': 13.99}, {'connected_gene': 'LMBR1L', 'score': 12.34}, {'connected_gene': 'PRPF40B', 'score': 11.98}, {'connected_gene': 'ENSG00000257964', 'score': 11.55}, {'connected_gene': 'C1QL4', 'score': 11.54}, {'connected_gene': 'SMARCD1', 'score': 11.17}, {'connected_gene': 'LOC101927267', 'score': 11.06}, {'connected_gene': 'ADCY6', 'score': 9.76}, {'connected_gene': 'TUBA1C', 'score': 6.45}, {'connected_gene': 'TROAP', 'score': 4.76}, {'connected_gene': 'PRPH', 'score': 0.77}, {'connected_gene': 'GC12P049321', '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 GH12I048104 48104238 48108341 2.11 [{'connected_gene': 'SENP1', 'score': 593.55}, {'connected_gene': 'PFKM', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 75.47}, {'connected_gene': 'KMT2D', 'score': 63.45}, {'connected_gene': 'CCNT1', 'score': 62.92}, {'connected_gene': 'LOC390314', 'score': 52.81}, {'connected_gene': 'KANSL2', 'score': 48.84}, {'connected_gene': 'RPL37P19', 'score': 31.3}, {'connected_gene': 'OR5BK1P', 'score': 30.48}, {'connected_gene': 'HDAC7', 'score': 23.07}, {'connected_gene': 'ADCY6', 'score': 21.1}, {'connected_gene': 'RPAP3', 'score': 19.31}, {'connected_gene': 'ZNF641', 'score': 16.44}, {'connected_gene': 'H1FNT', 'score': 15.89}, {'connected_gene': 'RNU6-1203P', 'score': 10.72}, {'connected_gene': 'C12orf54', 'score': 10.55}, {'connected_gene': 'PRKAG1', 'score': 10.31}, {'connected_gene': 'TMEM106C', 'score': 9.98}, {'connected_gene': 'ASB8', 'score': 9.74}, {'connected_gene': 'CCDC184', 'score': 9.66}, {'connected_gene': 'ENDOU', 'score': 4.24}]
chr12 GH12I048865 48865133 48867327 2.08 [{'connected_gene': 'RND1', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 164.12}, {'connected_gene': 'KMT2D', 'score': 146.41}, {'connected_gene': 'KANSL2', 'score': 142.56}, {'connected_gene': 'LOC390314', 'score': 121.33}, {'connected_gene': 'CCNT1', 'score': 121.06}, {'connected_gene': 'LMBR1L', 'score': 113.34}, {'connected_gene': 'SENP1', 'score': 104.52}, {'connected_gene': 'BCDIN3D', 'score': 96.04}, {'connected_gene': 'PRPF40B', 'score': 89.13}, {'connected_gene': 'LOC100422296', 'score': 75.39}, {'connected_gene': 'ENSG00000257964', 'score': 69.85}, {'connected_gene': 'FAM186B', 'score': 39.25}, {'connected_gene': 'OR5BK1P', 'score': 38.63}, {'connected_gene': 'ADCY6', 'score': 37.78}, {'connected_gene': 'LOC101927267', 'score': 37.47}, {'connected_gene': 'BCDIN3D-AS1', 'score': 24.54}, {'connected_gene': 'CCDC184', 'score': 23.55}, {'connected_gene': 'LOC102725258', 'score': 21.39}, {'connected_gene': 'RPL37P19', 'score': 21.14}, {'connected_gene': 'LOC105369760', 'score': 11.8}, {'connected_gene': 'PRPH', 'score': 11.06}, {'connected_gene': 'C12orf54', 'score': 10.54}, {'connected_gene': 'DHH', 'score': 9.78}, {'connected_gene': 'ZNF641', 'score': 9.75}, {'connected_gene': 'CCDC65', 'score': 9.56}, {'connected_gene': 'WNT10B', 'score': 5.19}, {'connected_gene': 'RNU6-600P', 'score': 0.31}, {'connected_gene': 'GC12M048893', 'score': 0.31}]
chr12 GH12I049564 49564265 49569400 2.27 [{'connected_gene': 'PRPF40B', 'score': 561.27}, {'connected_gene': 'MCRS1', 'score': 550.77}, {'connected_gene': 'ENSG00000257298', 'score': 13.11}, {'connected_gene': 'ADCY6', 'score': 13.07}, {'connected_gene': 'LOC100422296', 'score': 11.91}, {'connected_gene': 'SMARCD1', 'score': 10.62}, {'connected_gene': 'KMT2D', 'score': 9.93}, {'connected_gene': 'TUBA1C', 'score': 6.86}, {'connected_gene': 'SPATS2', 'score': 6.7}, {'connected_gene': 'GC12M049547', 'score': 0.44}]
chr12 GH12I048750 48750751 48750776 0.31 [{'connected_gene': 'ADCY6', 'score': 11.68}, {'connected_gene': 'CACNB3', 'score': 11.54}, {'connected_gene': 'ENSG00000257653', 'score': 0.37}, {'connected_gene': 'TEX49', 'score': 0.34}]
chr12 GH12I048753 48753538 48753707 0.72 [{'connected_gene': 'ADCY6', 'score': 12.78}, {'connected_gene': 'CACNB3', 'score': 12.11}, {'connected_gene': 'RNU6-600P', 'score': 11.39}, {'connected_gene': 'DDN-AS1', 'score': 5.01}, {'connected_gene': 'ENSG00000257653', 'score': 0.39}, {'connected_gene': 'TEX49', 'score': 0.31}]
chr12 GH12I048786 48786564 48790684 2.11 [{'connected_gene': 'ADCY6', 'score': 550.77}, {'connected_gene': 'LOC100506125', 'score': 550.77}, {'connected_gene': 'LOC390314', 'score': 15.65}, {'connected_gene': 'DDX23', 'score': 14.0}, {'connected_gene': 'KMT2D', 'score': 12.61}, {'connected_gene': 'CCNT1', 'score': 12.59}, {'connected_gene': 'HDAC7', 'score': 12.5}, {'connected_gene': 'KANSL2', 'score': 11.08}, {'connected_gene': 'CACNB3', 'score': 8.75}, {'connected_gene': 'MIR4701', 'score': 0.37}]
chr12 GH12I048778 48777578 48777747 0.58 [{'connected_gene': 'MIR4701', 'score': 0.44}, {'connected_gene': 'ADCY6', 'score': 0.39}]
chr12 GH12I048777 48777797 48778708 0.38 [{'connected_gene': 'MIR4701', 'score': 0.44}, {'connected_gene': 'ADCY6', 'score': 0.39}]
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 GH12I048765 48765378 48766147 0.72 [{'connected_gene': 'ENSG00000257653', 'score': 550.77}, {'connected_gene': 'ADCY6', 'score': 12.53}, {'connected_gene': 'CACNB3', 'score': 11.3}, {'connected_gene': 'KANSL2', 'score': 10.2}, {'connected_gene': 'ASB8', 'score': 5.65}, {'connected_gene': 'TEX49', 'score': 0.28}]
chr12 GH12I048768 48768278 48768427 0.51 [{'connected_gene': 'GC12P048770', 'score': 550.77}, {'connected_gene': 'ADCY6', 'score': 12.53}, {'connected_gene': 'CACNB3', 'score': 11.3}, {'connected_gene': 'KANSL2', 'score': 10.19}, {'connected_gene': 'MIR4701', 'score': 0.77}]
chr12 GH12I048766 48766446 48768078 0.2 [{'connected_gene': 'GC12P048770', 'score': 550.77}, {'connected_gene': 'ENSG00000257653', 'score': 550.77}, {'connected_gene': 'ADCY6', 'score': 12.53}, {'connected_gene': 'CACNB3', 'score': 11.3}, {'connected_gene': 'KANSL2', 'score': 10.19}]
chr12 GH12I049129 49129079 49133654 2.35 [{'connected_gene': 'ENSG00000200309', 'score': 550.77}, {'connected_gene': 'TUBA1B', 'score': 550.77}, {'connected_gene': 'GC12M049133', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 103.71}, {'connected_gene': 'LMBR1L', 'score': 94.6}, {'connected_gene': 'KMT2D', 'score': 90.82}, {'connected_gene': 'SMARCD1', 'score': 89.14}, {'connected_gene': 'LOC390314', 'score': 77.32}, {'connected_gene': 'BCDIN3D', 'score': 69.37}, {'connected_gene': 'CCNT1', 'score': 68.9}, {'connected_gene': 'PRPF40B', 'score': 64.33}, {'connected_gene': 'KANSL2', 'score': 63.56}, {'connected_gene': 'LOC100422296', 'score': 43.94}, {'connected_gene': 'OR5BK1P', 'score': 39.52}, {'connected_gene': 'ENSG00000257964', 'score': 30.91}, {'connected_gene': 'LOC102725258', 'score': 29.89}, {'connected_gene': 'LOC105369760', 'score': 24.94}, {'connected_gene': 'FAM186B', 'score': 23.74}, {'connected_gene': 'ADCY6', 'score': 21.09}, {'connected_gene': 'LOC101927267', 'score': 19.71}, {'connected_gene': 'ENSG00000272368', 'score': 19.27}, {'connected_gene': 'SPATS2', 'score': 18.27}, {'connected_gene': 'CCDC184', 'score': 12.5}, {'connected_gene': 'BCDIN3D-AS1', 'score': 11.28}, {'connected_gene': 'CACNB3', 'score': 10.03}, {'connected_gene': 'OR8T1P', 'score': 9.77}, {'connected_gene': 'PRKAG1', 'score': 4.91}]

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