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
ENST00000544838 [[110338078, 110338231], [110340831, 110341019], [110341741, 110341952], [110342541, 110342598], [110344376, 110344445], [110345330, 110345504], [110346390, 110346503], [110346675, 110346742], [110348867, 110349040], [110350795, 110350877], [110352246, 110352432], [110353207, 110353351], [110354395, 110354515], [110370701, 110370889], [110390922, 110391074]] [[110340831, 110341019], [110341741, 110341952], [110342541, 110342598], [110344376, 110344445], [110345330, 110345504], [110346390, 110346503], [110346675, 110346742], [110348867, 110349040], [110350795, 110350877], [110352246, 110352432], [110353207, 110353351], [110354395, 110354428]]
ENST00000537218 [[110338068, 110338231], [110340831, 110341019], [110341741, 110341952], [110342541, 110342832]] None
ENST00000405876 [[110338084, 110338231], [110340831, 110341019], [110341741, 110341952], [110342541, 110342598], [110344376, 110344445], [110345330, 110345504], [110346390, 110346503], [110346675, 110346742], [110348867, 110349040], [110350795, 110350877], [110352246, 110352432], [110353207, 110353351], [110354395, 110355874]] [[110340831, 110341019], [110341741, 110341952], [110342541, 110342598], [110344376, 110344445], [110345330, 110345504], [110346390, 110346503], [110346675, 110346742], [110348867, 110349040], [110350795, 110350877], [110352246, 110352432], [110353207, 110353351], [110354395, 110354428]]
ENST00000312777 [[110338322, 110338536], [110340831, 110341019], [110341741, 110341952], [110342541, 110342598], [110344376, 110344445], [110345330, 110345504], [110346390, 110346503], [110346675, 110346742], [110348867, 110349040], [110350795, 110350877], [110352246, 110352432], [110353207, 110353351], [110354395, 110355868]] [[110340831, 110341019], [110341741, 110341952], [110342541, 110342598], [110344376, 110344445], [110345330, 110345504], [110346390, 110346503], [110346675, 110346742], [110348867, 110349040], [110350795, 110350877], [110352246, 110352432], [110353207, 110353351], [110354395, 110354428]]
ENST00000536408 [[110338413, 110338864], [110340831, 110341019], [110341741, 110341952], [110342541, 110342598], [110344376, 110344442]] [[110340831, 110341019], [110341741, 110341952], [110342541, 110342598], [110344376, 110344442]]
ENST00000549550 [[110346619, 110346742], [110348867, 110349040], [110350795, 110350877], [110352246, 110352333]] None
ENST00000551627 [[110350777, 110350877], [110352246, 110352432], [110353207, 110353351], [110354395, 110354546]] None
ENST00000537880 [[110352010, 110353351], [110354395, 110355871]] None
ENST00000549524 [[110367649, 110369822], [110370701, 110371956]] None
ENST00000550780 [[110370848, 110370889], [110418709, 110418984], [110421414, 110421646]] None
NM_001143852 [[110338078, 110338231], [110340831, 110341019], [110341741, 110341952], [110342541, 110342598], [110344376, 110344445], [110345330, 110345504], [110346390, 110346503], [110346675, 110346742], [110348867, 110349040], [110350795, 110350877], [110352246, 110352432], [110353207, 110353351], [110354395, 110355874]] [[110340831, 110341019], [110341741, 110341952], [110342541, 110342598], [110344376, 110344445], [110345330, 110345504], [110346390, 110346503], [110346675, 110346742], [110348867, 110349040], [110350795, 110350877], [110352246, 110352432], [110353207, 110353351], [110354395, 110354428]]
NM_032300 [[110338322, 110338536], [110340831, 110341019], [110341741, 110341952], [110342541, 110342598], [110344376, 110344445], [110345330, 110345504], [110346390, 110346503], [110346675, 110346742], [110348867, 110349040], [110350795, 110350877], [110352246, 110352432], [110353207, 110353351], [110354395, 110355874]] [[110340831, 110341019], [110341741, 110341952], [110342541, 110342598], [110344376, 110344445], [110345330, 110345504], [110346390, 110346503], [110346675, 110346742], [110348867, 110349040], [110350795, 110350877], [110352246, 110352432], [110353207, 110353351], [110354395, 110354428]]
Promoter
Chrom Start End Description
chr12 110338063 110338105 CAGE_peak_1_at_TCHP_5end
chr12 110338376 110338395 CAGE_peak_2_at_TCHP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I109963 109963851 109965064 0.76 [{'connected_gene': 'GIT2', 'score': 12.08}, {'connected_gene': 'ANKRD13A', 'score': 11.62}, {'connected_gene': 'TCHP', 'score': 11.56}, {'connected_gene': 'TRPV4', 'score': 9.74}, {'connected_gene': 'ENSG00000277299', 'score': 0.37}]
chr12 GH12I109978 109978975 109979248 0.51 [{'connected_gene': 'GIT2', 'score': 0.37}, {'connected_gene': 'ENSG00000277299', 'score': 0.29}, {'connected_gene': 'TCHP', 'score': 0.15}]
chr12 GH12I109961 109961185 109963047 0.58 [{'connected_gene': 'GIT2', 'score': 18.39}, {'connected_gene': 'GLTP', 'score': 16.81}, {'connected_gene': 'ANKRD13A', 'score': 12.17}, {'connected_gene': 'TCHP', 'score': 11.11}, {'connected_gene': 'ENSG00000249094', 'score': 10.73}, {'connected_gene': 'ENSG00000277299', 'score': 0.39}]
chr12 GH12I109892 109892288 109894130 1.09 [{'connected_gene': 'UBE3B', 'score': 21.07}, {'connected_gene': 'RNU4-32P', 'score': 12.6}, {'connected_gene': 'ALKBH2', 'score': 12.01}, {'connected_gene': 'IFT81', 'score': 10.45}, {'connected_gene': 'GLTP', 'score': 4.99}, {'connected_gene': 'TCHP', 'score': 0.39}, {'connected_gene': 'PIR43904', 'score': 0.34}]
chr12 GH12I109625 109625114 109625486 1.02 [{'connected_gene': 'FAM222A', 'score': 14.94}, {'connected_gene': 'MMAB', 'score': 10.96}, {'connected_gene': 'MVK', 'score': 10.96}, {'connected_gene': 'RNU4-32P', 'score': 10.95}, {'connected_gene': 'C12orf76', 'score': 2.23}, {'connected_gene': 'TCHP', 'score': 1.3}, {'connected_gene': 'GC12M109613', 'score': 0.44}, {'connected_gene': 'RN7SKP250', 'score': 0.28}, {'connected_gene': 'GC12M109663', 'score': 0.28}]
chr12 GH12I109051 109051937 109055050 2.12 [{'connected_gene': 'USP30', 'score': 562.25}, {'connected_gene': 'USP30-AS1', 'score': 550.77}, {'connected_gene': 'SART3', 'score': 59.37}, {'connected_gene': 'RNU4-32P', 'score': 21.83}, {'connected_gene': 'ALKBH2', 'score': 19.87}, {'connected_gene': 'UBE3B', 'score': 19.6}, {'connected_gene': 'WSCD2', 'score': 15.07}, {'connected_gene': 'TCHP', 'score': 11.01}]
chr12 GH12I109936 109936961 109938134 0.58 [{'connected_gene': 'HVCN1', 'score': 4.87}, {'connected_gene': 'ENSG00000277299', 'score': 0.39}, {'connected_gene': 'PIR43904', 'score': 0.34}, {'connected_gene': 'GIT2', 'score': 0.22}, {'connected_gene': 'TCHP', 'score': 0.22}]
chr12 GH12I109879 109878007 109878230 0.55 [{'connected_gene': 'TCHP', 'score': 2.06}, {'connected_gene': 'FAM222A', 'score': 1.62}, {'connected_gene': 'GLTP', 'score': 0.77}, {'connected_gene': 'RN7SL441P', 'score': 0.39}]
chr12 GH12I109932 109932664 109933625 0.51 [{'connected_gene': 'TCHP', 'score': 12.35}, {'connected_gene': 'GLTP', 'score': 11.42}, {'connected_gene': 'ENSG00000249094', 'score': 11.42}, {'connected_gene': 'GIT2', 'score': 11.05}, {'connected_gene': 'ENSG00000277299', 'score': 0.37}, {'connected_gene': 'PIR43904', 'score': 0.37}]
chr12 GH12I109899 109899520 109901711 2.08 [{'connected_gene': 'TCHP', 'score': 550.37}, {'connected_gene': 'IFT81', 'score': 35.81}, {'connected_gene': 'GLTP', 'score': 20.28}, {'connected_gene': 'UBE3B', 'score': 18.36}, {'connected_gene': 'RNU4-32P', 'score': 11.01}, {'connected_gene': 'TRPV4', 'score': 4.89}, {'connected_gene': 'PIR43904', 'score': 0.37}]
chr12 GH12I109883 109883576 109883725 0.74 [{'connected_gene': 'TCHP', 'score': 0.77}, {'connected_gene': 'ENSG00000249094', 'score': 0.77}, {'connected_gene': 'PIR43904', 'score': 0.29}]
chr12 GH12I109966 109966281 109969085 0.79 [{'connected_gene': 'TRPV4', 'score': 15.97}, {'connected_gene': 'GIT2', 'score': 12.43}, {'connected_gene': 'ANKRD13A', 'score': 12.23}, {'connected_gene': 'TCHP', 'score': 11.55}, {'connected_gene': 'C12orf76', 'score': 10.18}, {'connected_gene': 'GLTP', 'score': 5.93}, {'connected_gene': 'ENSG00000277299', 'score': 0.37}]
chr12 GH12I109972 109972832 109974274 0.77 [{'connected_gene': 'TRPV4', 'score': 7.86}, {'connected_gene': 'GLTP', 'score': 5.92}, {'connected_gene': 'GIT2', 'score': 0.34}, {'connected_gene': 'ENSG00000277299', 'score': 0.31}, {'connected_gene': 'TCHP', 'score': 0.16}]
chr12 GH12I109912 109912239 109914137 0.38 [{'connected_gene': 'TRPV4', 'score': 18.85}, {'connected_gene': 'GLTP', 'score': 18.85}, {'connected_gene': 'ENSG00000249094', 'score': 11.99}, {'connected_gene': 'PIR43904', 'score': 0.77}, {'connected_gene': 'TCHP', 'score': 0.29}]
chr12 GH12I110499 110499048 110503028 2.13 [{'connected_gene': 'VPS29', 'score': 550.77}, {'connected_gene': 'RAD9B', 'score': 550.77}, {'connected_gene': 'ENSG00000278993', 'score': 550.77}, {'connected_gene': 'IFT81', 'score': 51.74}, {'connected_gene': 'ARPC3', 'score': 23.57}, {'connected_gene': 'FAM216A', 'score': 23.52}, {'connected_gene': 'ANAPC7', 'score': 19.92}, {'connected_gene': 'GPN3', 'score': 11.53}, {'connected_gene': 'RNU4-32P', 'score': 10.98}, {'connected_gene': 'HSPA8P14', 'score': 10.97}, {'connected_gene': 'ANKRD13A', 'score': 10.95}, {'connected_gene': 'TCHP', 'score': 9.69}, {'connected_gene': 'GC12M110497', 'score': 0.77}, {'connected_gene': 'ENSG00000202335', 'score': 0.77}]
chr12 GH12I109885 109885256 109886216 0.69 [{'connected_gene': 'GLTP', 'score': 7.84}, {'connected_gene': 'HVCN1', 'score': 4.77}, {'connected_gene': 'C12orf76', 'score': 4.69}, {'connected_gene': 'TCHP', 'score': 0.44}, {'connected_gene': 'ENSG00000249094', 'score': 0.44}, {'connected_gene': 'PIR43904', 'score': 0.29}]
chr12 GH12I109930 109930067 109931009 0.49 [{'connected_gene': 'GLTP', 'score': 14.13}, {'connected_gene': 'PIR43904', 'score': 0.39}, {'connected_gene': 'ENSG00000277299', 'score': 0.37}, {'connected_gene': 'TCHP', 'score': 0.25}, {'connected_gene': 'GIT2', 'score': 0.2}]
chr12 GH12I109878 109878836 109882221 2.41 [{'connected_gene': 'GLTP', 'score': 565.03}, {'connected_gene': 'TCHP', 'score': 550.77}, {'connected_gene': 'ENSG00000249094', 'score': 550.77}, {'connected_gene': 'RNU4-32P', 'score': 11.47}, {'connected_gene': 'KCTD10', 'score': 11.15}, {'connected_gene': 'IFT81', 'score': 10.62}, {'connected_gene': 'ANKRD13A', 'score': 10.46}, {'connected_gene': 'PPP1CC', 'score': 10.14}, {'connected_gene': 'FAM216A', 'score': 9.89}, {'connected_gene': 'UBE3B', 'score': 9.72}, {'connected_gene': 'ALKBH2', 'score': 9.66}, {'connected_gene': 'C12orf76', 'score': 3.73}, {'connected_gene': 'FAM222A', 'score': 1.27}]
chr12 GH12I109886 109886863 109887240 0.2 [{'connected_gene': 'GLTP', 'score': 5.01}, {'connected_gene': 'TCHP', 'score': 0.44}, {'connected_gene': 'ENSG00000249094', 'score': 0.44}, {'connected_gene': 'PIR43904', 'score': 0.31}]
chr12 GH12I109896 109896380 109897393 0.65 [{'connected_gene': 'GLTP', 'score': 4.87}, {'connected_gene': 'PIR43904', 'score': 0.37}, {'connected_gene': 'TCHP', 'score': 0.37}]
chr12 GH12I109887 109887396 109890359 1.15 [{'connected_gene': 'GLTP', 'score': 7.99}, {'connected_gene': 'TRPV4', 'score': 7.98}, {'connected_gene': 'TCHP', 'score': 0.44}, {'connected_gene': 'ENSG00000249094', 'score': 0.44}, {'connected_gene': 'PIR43904', 'score': 0.31}]
chr12 GH12I109914 109914614 109914792 0.2 [{'connected_gene': 'GLTP', 'score': 17.43}, {'connected_gene': 'ENSG00000249094', 'score': 11.99}, {'connected_gene': 'TRPV4', 'score': 11.09}, {'connected_gene': 'PIR43904', 'score': 0.77}, {'connected_gene': 'TCHP', 'score': 0.29}]
chr12 GH12I109911 109911036 109911145 0.72 [{'connected_gene': 'GLTP', 'score': 11.99}, {'connected_gene': 'ENSG00000249094', 'score': 11.99}, {'connected_gene': 'TRPV4', 'score': 11.09}, {'connected_gene': 'PIR43904', 'score': 0.44}, {'connected_gene': 'TCHP', 'score': 0.29}]
chr12 GH12I109310 109309800 109310201 1.09 [{'connected_gene': 'FOXN4', 'score': 550.77}, {'connected_gene': 'SART3', 'score': 14.46}, {'connected_gene': 'TCHP', 'score': 11.02}, {'connected_gene': 'UBE3B', 'score': 10.95}, {'connected_gene': 'PIR60835', 'score': 0.37}]
chr12 GH12I109980 109980352 109984300 0.2 [{'connected_gene': 'ARPC3', 'score': 17.39}, {'connected_gene': 'C12orf76', 'score': 15.72}, {'connected_gene': 'GIT2', 'score': 6.6}, {'connected_gene': 'GLTP', 'score': 5.91}, {'connected_gene': 'ENSG00000277299', 'score': 0.29}, {'connected_gene': 'TCHP', 'score': 0.15}]
chr12 GH12I109854 109854046 109859514 0.46 [{'connected_gene': 'PIR37961', 'score': 550.77}, {'connected_gene': 'GLTP', 'score': 45.31}, {'connected_gene': 'ENSG00000249094', 'score': 12.37}, {'connected_gene': 'TRPV4', 'score': 12.31}, {'connected_gene': 'TCHP', 'score': 11.81}, {'connected_gene': 'ARPC3', 'score': 10.19}, {'connected_gene': 'GIT2', 'score': 6.32}, {'connected_gene': 'ENSG00000256351', 'score': 0.77}]
chr12 GH12I109915 109915276 109915425 0.57 [{'connected_gene': 'PIR43904', 'score': 550.77}, {'connected_gene': 'GLTP', 'score': 17.15}, {'connected_gene': 'ENSG00000249094', 'score': 11.99}, {'connected_gene': 'TRPV4', 'score': 11.09}, {'connected_gene': 'TCHP', 'score': 0.29}]
chr12 GH12I109944 109944528 109953857 1.34 [{'connected_gene': 'ENSG00000277299', 'score': 550.77}, {'connected_gene': 'ARPC3', 'score': 17.13}, {'connected_gene': 'TRPV4', 'score': 7.89}, {'connected_gene': 'GIT2', 'score': 6.45}, {'connected_gene': 'GLTP', 'score': 5.96}, {'connected_gene': 'TCHP', 'score': 0.2}]

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