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
ENST00000436964 [[1848708, 1848858], [1849771, 1849943], [1856323, 1856429], [1856525, 1856689], [1857115, 1857516]] [[1856335, 1856429], [1856525, 1856689], [1857115, 1857334]]
ENST00000430303 [[1849536, 1849623], [1849771, 1849943], [1856326, 1856429], [1856525, 1856689], [1857115, 1857164]] [[1856335, 1856429], [1856525, 1856689], [1857115, 1857164]]
ENST00000417052 [[1849772, 1849943], [1856323, 1856429], [1856525, 1856689], [1857115, 1857156]] [[1856335, 1856429], [1856525, 1856689], [1857115, 1857156]]
ENST00000479276 [[1852316, 1853126], [1856323, 1856429], [1856525, 1856689], [1857115, 1858091], [1858186, 1858320], [1858421, 1858751]] None
ENST00000535046 [[1852682, 1853126], [1856323, 1856429], [1856525, 1856689], [1857115, 1857514], [1857654, 1857822], [1857985, 1858091], [1858186, 1858320], [1858421, 1858740]] [[1852682, 1853126], [1856323, 1856429], [1856525, 1856689], [1857115, 1857334]]
ENST00000490707 [[1855021, 1858091], [1858186, 1858320], [1858421, 1858751]] None
ENST00000479089 [[1855539, 1855847], [1856323, 1856429], [1856525, 1856689], [1857115, 1857822], [1857985, 1858091], [1858186, 1858751]] None
ENST00000381968 [[1855673, 1855831], [1856323, 1856429], [1856525, 1856689], [1857115, 1857214], [1857355, 1857514], [1857654, 1857822], [1857985, 1858091], [1858186, 1858320], [1858421, 1858751]] [[1855801, 1855831], [1856323, 1856429], [1856525, 1856689], [1857115, 1857214], [1857355, 1857514], [1857654, 1857822], [1857985, 1858091], [1858186, 1858320], [1858421, 1858661]]
ENST00000464897 [[1855705, 1855831], [1856323, 1856429], [1856525, 1856689], [1857115, 1857822], [1857985, 1858091], [1858186, 1858320], [1858421, 1858751]] None
ENST00000475245 [[1855801, 1855831], [1856323, 1856429], [1856525, 1856689], [1857115, 1857334]] None
ENST00000381978 [[1855819, 1855847], [1856326, 1856429], [1856525, 1856689], [1857115, 1857214], [1857355, 1857514], [1857654, 1857822], [1857985, 1858091], [1858186, 1858320], [1858421, 1858751]] [[1855819, 1855847], [1856326, 1856429], [1856525, 1856689], [1857115, 1857214], [1857355, 1857514], [1857654, 1857822], [1857985, 1858091], [1858186, 1858320], [1858421, 1858661]]
ENST00000341958 [[1856033, 1856429], [1856525, 1856689], [1857115, 1857214], [1857355, 1857514], [1857654, 1857822], [1857985, 1858091], [1858186, 1858320], [1858421, 1858751]] [[1856335, 1856429], [1856525, 1856689], [1857115, 1857214], [1857355, 1857514], [1857654, 1857822], [1857985, 1858091], [1858186, 1858320], [1858421, 1858661]]
ENST00000424556 [[1856100, 1856429], [1856508, 1856689], [1857115, 1857214], [1857355, 1857514], [1857654, 1857822], [1857985, 1858091], [1858186, 1858320], [1858421, 1858751]] [[1856335, 1856429], [1856508, 1856689], [1857115, 1857214], [1857355, 1857371]]
ENST00000482118 [[1856335, 1856429], [1856525, 1856812]] None
ENST00000483280 [[1856789, 1856846], [1857115, 1857648]] None
ENST00000494431 [[1857258, 1857514], [1857654, 1857782]] None
NM_001290334 [[1855539, 1855831], [1856326, 1856429], [1856525, 1856689], [1857115, 1857214], [1857355, 1857514], [1857654, 1857822], [1857985, 1858091], [1858186, 1858320], [1858421, 1858751]] [[1855801, 1855831], [1856326, 1856429], [1856525, 1856689], [1857115, 1857214], [1857355, 1857514], [1857654, 1857822], [1857985, 1858091], [1858186, 1858320], [1858421, 1858661]]
NM_138567 [[1855539, 1855831], [1856323, 1856429], [1856525, 1856689], [1857115, 1857214], [1857355, 1857514], [1857654, 1857822], [1857985, 1858091], [1858186, 1858320], [1858421, 1858751]] [[1855801, 1855831], [1856323, 1856429], [1856525, 1856689], [1857115, 1857214], [1857355, 1857514], [1857654, 1857822], [1857985, 1858091], [1858186, 1858320], [1858421, 1858661]]
NM_001290333 [[1855539, 1855847], [1856326, 1856429], [1856525, 1856689], [1857115, 1857214], [1857355, 1857514], [1857654, 1857822], [1857985, 1858091], [1858186, 1858320], [1858421, 1858751]] [[1855814, 1855847], [1856326, 1856429], [1856525, 1856689], [1857115, 1857214], [1857355, 1857514], [1857654, 1857822], [1857985, 1858091], [1858186, 1858320], [1858421, 1858661]]
NM_001290332 [[1855539, 1855847], [1856323, 1856429], [1856525, 1856689], [1857115, 1857214], [1857355, 1857514], [1857654, 1857822], [1857985, 1858091], [1858186, 1858320], [1858421, 1858751]] [[1855814, 1855847], [1856323, 1856429], [1856525, 1856689], [1857115, 1857214], [1857355, 1857514], [1857654, 1857822], [1857985, 1858091], [1858186, 1858320], [1858421, 1858661]]
Promoter
Chrom Start End Description
chr11 1853029 1853045 CAGE_peak_9_at_SYT8_5end
chr11 1855634 1855641 CAGE_peak_8_at_SYT8_5end
chr11 1855645 1855729 CAGE_peak_2_at_SYT8_5end
chr11 1856142 1856147 CAGE_peak_6_at_SYT8_5end
chr11 1856158 1856161 CAGE_peak_7_at_SYT8_5end
chr11 1856169 1856184 CAGE_peak_3_at_SYT8_5end
chr11 1856186 1856232 CAGE_peak_1_at_SYT8_5end
chr11 1856234 1856248 CAGE_peak_5_at_SYT8_5end
chr11 1856292 1856320 CAGE_peak_4_at_SYT8_5end
chr11 1856354 1856364 CAGE_peak_11_at_SYT8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I001768 1768571 1769449 0.87 [{'connected_gene': 'SYT8', 'score': 11.4}, {'connected_gene': 'TNNI2', 'score': 11.38}, {'connected_gene': 'KRTAP5-6', 'score': 11.06}, {'connected_gene': 'LOC100505570', 'score': 11.04}, {'connected_gene': 'FAM99B', 'score': 11.04}, {'connected_gene': 'CTSD', 'score': 0.77}, {'connected_gene': 'LOC105376517', 'score': 0.44}]
chr11 GH11I001825 1825794 1836210 2.13 [{'connected_gene': 'SYT8', 'score': 556.54}, {'connected_gene': 'GC11P001831', 'score': 550.77}, {'connected_gene': 'KRTAP5-3', 'score': 2.07}, {'connected_gene': 'KRTAP5-5', 'score': 1.6}, {'connected_gene': 'TNNI2', 'score': 0.44}]
chr11 GH11I001826 1825000 1825401 1.22 [{'connected_gene': 'SYT8', 'score': 0.77}, {'connected_gene': 'LOC390029', 'score': 0.34}]
chr11 GH11I001820 1820091 1821330 0.63 [{'connected_gene': 'SYT8', 'score': 0.44}, {'connected_gene': 'LOC390029', 'score': 0.37}]
chr11 GH11I001785 1785871 1786020 0.51 [{'connected_gene': 'SYT8', 'score': 5.63}, {'connected_gene': 'LOC105376517', 'score': 0.44}, {'connected_gene': 'RPL36AP39', 'score': 0.44}]
chr11 GH11I002003 2003873 2005329 0.64 [{'connected_gene': 'TNNI2', 'score': 11.25}, {'connected_gene': 'SYT8', 'score': 11.24}, {'connected_gene': 'KRTAP5-6', 'score': 10.91}, {'connected_gene': 'FAM99B', 'score': 10.91}, {'connected_gene': 'LOC100505570', 'score': 10.91}, {'connected_gene': 'MRPL23-AS1', 'score': 10.46}, {'connected_gene': 'H19', 'score': 0.77}, {'connected_gene': 'PIR50683', 'score': 0.77}, {'connected_gene': 'MRPL23', 'score': 0.22}]
chr11 GH11I001836 1836230 1836692 0.2 [{'connected_gene': 'TNNI2', 'score': 0.77}, {'connected_gene': 'SYT8', 'score': 0.44}, {'connected_gene': 'GC11P001831', 'score': 0.44}]
chr11 GH11I001837 1837097 1846599 2.24 [{'connected_gene': 'TNNI2', 'score': 567.4}, {'connected_gene': 'IFITM10', 'score': 10.37}, {'connected_gene': 'LSP1', 'score': 10.25}, {'connected_gene': 'LINC01219', 'score': 4.47}, {'connected_gene': 'C11orf21', 'score': 1.79}, {'connected_gene': 'SYT8', 'score': 0.39}, {'connected_gene': 'GC11P001831', 'score': 0.39}]
chr11 GH11I001810 1810601 1811400 0.38 [{'connected_gene': 'TNNI2', 'score': 12.89}, {'connected_gene': 'ENSG00000229512', 'score': 11.99}, {'connected_gene': 'CTSD', 'score': 11.99}, {'connected_gene': 'ENSG00000250644', 'score': 11.99}, {'connected_gene': 'ENSG00000235027', 'score': 11.97}, {'connected_gene': 'IFITM10', 'score': 11.87}, {'connected_gene': 'MRPL23-AS1', 'score': 11.28}, {'connected_gene': 'LINC01219', 'score': 11.27}, {'connected_gene': 'H19', 'score': 11.26}, {'connected_gene': 'KRTAP5-6', 'score': 11.17}, {'connected_gene': 'FAM99B', 'score': 11.16}, {'connected_gene': 'LOC100505570', 'score': 11.16}, {'connected_gene': 'LOC390029', 'score': 0.44}, {'connected_gene': 'SYT8', 'score': 0.37}]
chr11 GH11I001796 1796631 1796780 0.82 [{'connected_gene': 'SNORA52', 'score': 17.07}, {'connected_gene': 'TSPAN4', 'score': 13.56}, {'connected_gene': 'RPLP2', 'score': 9.89}, {'connected_gene': 'SYT8', 'score': 5.51}, {'connected_gene': 'GC11P001792', 'score': 0.77}, {'connected_gene': 'LOC390029', 'score': 0.44}]
chr11 GH11I001770 1770041 1773855 1.65 [{'connected_gene': 'SNORA52', 'score': 26.44}, {'connected_gene': 'TSPAN4', 'score': 25.02}, {'connected_gene': 'PIDD1', 'score': 22.73}, {'connected_gene': 'IFITM10', 'score': 17.91}, {'connected_gene': 'TNNI2', 'score': 17.45}, {'connected_gene': 'ENSG00000255142', 'score': 12.46}, {'connected_gene': 'SYT8', 'score': 11.4}, {'connected_gene': 'KRTAP5-6', 'score': 11.06}, {'connected_gene': 'LOC100505570', 'score': 11.04}, {'connected_gene': 'FAM99B', 'score': 11.03}, {'connected_gene': 'RPLP2', 'score': 10.43}, {'connected_gene': 'TSSC4', 'score': 10.31}, {'connected_gene': 'RPL26P30', 'score': 10.1}, {'connected_gene': 'LSP1', 'score': 9.87}, {'connected_gene': 'ENSG00000235027', 'score': 7.01}, {'connected_gene': 'TOLLIP', 'score': 2.08}, {'connected_gene': 'CTSD', 'score': 1.83}, {'connected_gene': 'MOB2', 'score': 1.45}, {'connected_gene': 'LOC105376517', 'score': 0.44}]
chr11 GH11I001769 1769491 1769640 0.71 [{'connected_gene': 'PIDD1', 'score': 27.76}, {'connected_gene': 'SNORA52', 'score': 15.21}, {'connected_gene': 'SYT8', 'score': 11.4}, {'connected_gene': 'TNNI2', 'score': 11.38}, {'connected_gene': 'KRTAP5-6', 'score': 11.06}, {'connected_gene': 'FAM99B', 'score': 11.04}, {'connected_gene': 'LOC100505570', 'score': 11.04}, {'connected_gene': 'TSPAN4', 'score': 11.04}, {'connected_gene': 'RPL26P30', 'score': 10.72}, {'connected_gene': 'ENSG00000255142', 'score': 10.18}, {'connected_gene': 'KCNQ1OT1', 'score': 9.68}, {'connected_gene': 'CTSD', 'score': 0.77}, {'connected_gene': 'LOC105376517', 'score': 0.44}]
chr11 GH11I001771 1769859 1769920 0.77 [{'connected_gene': 'PIDD1', 'score': 27.76}, {'connected_gene': 'SNORA52', 'score': 15.21}, {'connected_gene': 'SYT8', 'score': 11.4}, {'connected_gene': 'TNNI2', 'score': 11.38}, {'connected_gene': 'KRTAP5-6', 'score': 11.06}, {'connected_gene': 'FAM99B', 'score': 11.04}, {'connected_gene': 'LOC100505570', 'score': 11.04}, {'connected_gene': 'TSPAN4', 'score': 11.04}, {'connected_gene': 'RPL26P30', 'score': 10.72}, {'connected_gene': 'ENSG00000255142', 'score': 10.18}, {'connected_gene': 'KCNQ1OT1', 'score': 9.68}, {'connected_gene': 'LOC105376517', 'score': 0.44}, {'connected_gene': 'CTSD', 'score': 0.44}]
chr11 GH11I001871 1870401 1872681 1.36 [{'connected_gene': 'LSP1', 'score': 556.04}, {'connected_gene': 'TNNT3', 'score': 12.54}, {'connected_gene': 'TNNI2', 'score': 11.72}, {'connected_gene': 'SYT8', 'score': 11.69}, {'connected_gene': 'GC11P001865', 'score': 0.44}, {'connected_gene': 'MIR7847', 'score': 0.44}, {'connected_gene': 'GC11P001831', 'score': 0.26}]
chr11 GH11I001780 1780590 1783999 1.55 [{'connected_gene': 'LSP1', 'score': 13.79}, {'connected_gene': 'TNNI2', 'score': 10.2}, {'connected_gene': 'ENSG00000250397', 'score': 5.31}, {'connected_gene': 'SYT8', 'score': 5.12}, {'connected_gene': 'TOLLIP', 'score': 1.84}, {'connected_gene': 'LOC105376517', 'score': 0.77}, {'connected_gene': 'RPL36AP39', 'score': 0.39}]
chr11 GH11I002178 2178852 2179349 0.86 [{'connected_gene': 'IGF2', 'score': 16.78}, {'connected_gene': 'TH', 'score': 16.08}, {'connected_gene': 'IGF2-AS', 'score': 11.29}, {'connected_gene': 'MIR483', 'score': 11.27}, {'connected_gene': 'ENSG00000236710', 'score': 5.56}, {'connected_gene': 'ASCL2', 'score': 3.24}, {'connected_gene': 'SYT8', 'score': 2.1}, {'connected_gene': 'MIR4686', 'score': 0.44}, {'connected_gene': 'GC11M002206', 'score': 0.29}]
chr11 GH11I002001 2001378 2003100 0.89 [{'connected_gene': 'H19', 'score': 550.77}, {'connected_gene': 'TNNI2', 'score': 11.24}, {'connected_gene': 'SYT8', 'score': 11.24}, {'connected_gene': 'KRTAP5-6', 'score': 10.91}, {'connected_gene': 'LOC100505570', 'score': 10.91}, {'connected_gene': 'FAM99B', 'score': 10.91}, {'connected_gene': 'PIR50683', 'score': 0.77}, {'connected_gene': 'MRPL23', 'score': 0.23}]
chr11 GH11I001985 1985257 1999874 2.67 [{'connected_gene': 'LINC01219', 'score': 550.77}, {'connected_gene': 'H19', 'score': 550.44}, {'connected_gene': 'MRPL23-AS1', 'score': 20.66}, {'connected_gene': 'IGF2', 'score': 4.93}, {'connected_gene': 'TSPAN32', 'score': 4.5}, {'connected_gene': 'SYT8', 'score': 1.58}, {'connected_gene': 'ENSG00000274866', 'score': 0.77}, {'connected_gene': 'ENSG00000275266', 'score': 0.77}, {'connected_gene': 'MIR675', 'score': 0.77}, {'connected_gene': 'GC11P001986', 'score': 0.44}, {'connected_gene': 'GC11P001999', 'score': 0.44}, {'connected_gene': 'MRPL23', 'score': 0.25}]
chr11 GH11I001962 1962482 1972699 1.99 [{'connected_gene': 'MRPL23-AS1', 'score': 17.72}, {'connected_gene': 'IGF2', 'score': 7.76}, {'connected_gene': 'TH', 'score': 5.64}, {'connected_gene': 'TNNI2', 'score': 2.17}, {'connected_gene': 'TNNT3', 'score': 1.6}, {'connected_gene': 'TSSC4', 'score': 1.53}, {'connected_gene': 'SYT8', 'score': 1.26}, {'connected_gene': 'GC11P001973', 'score': 0.44}, {'connected_gene': 'GC11P001949', 'score': 0.37}, {'connected_gene': 'MRPL23', 'score': 0.34}]
chr11 GH11I002076 2076611 2078442 0.82 [{'connected_gene': 'GC11P002077', 'score': 550.77}, {'connected_gene': 'MIR483', 'score': 11.41}, {'connected_gene': 'IGF2-AS', 'score': 11.34}, {'connected_gene': 'IGF2', 'score': 11.32}, {'connected_gene': 'SYT8', 'score': 9.85}, {'connected_gene': 'TNNI2', 'score': 9.85}, {'connected_gene': 'GC11M002043', 'score': 0.29}]
chr11 GH11I001792 1792401 1793200 0.2 [{'connected_gene': 'GC11P001792', 'score': 550.77}, {'connected_gene': 'RPL36AP39', 'score': 550.77}, {'connected_gene': 'KRTAP5-6', 'score': 11.98}, {'connected_gene': 'FAM99B', 'score': 11.96}, {'connected_gene': 'LOC100505570', 'score': 11.96}, {'connected_gene': 'ENSG00000229512', 'score': 11.85}, {'connected_gene': 'CTSD', 'score': 11.85}, {'connected_gene': 'ENSG00000250644', 'score': 11.85}, {'connected_gene': 'ENSG00000235027', 'score': 11.83}, {'connected_gene': 'SYT8', 'score': 4.93}, {'connected_gene': 'LOC390029', 'score': 0.39}]

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