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
ENST00000297613 [[34610482, 34611329], [34611856, 34612101]] [[34610801, 34611293]]
ENST00000378959 [[34610482, 34611329], [34612060, 34612101]] [[34610801, 34611293]]
NM_148179 [[34610481, 34611329], [34611856, 34612110]] [[34610801, 34611293]]
NM_148178 [[34610481, 34611329], [34612060, 34612110]] [[34610801, 34611293]]
Promoter
Chrom Start End Description
chr9 34612077 34612125 CAGE_peak_1_at_C9orf23_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I034709 34709695 34710503 0.7 [{'connected_gene': 'CCL21', 'score': 550.77}, {'connected_gene': 'FAM205BP', 'score': 11.87}, {'connected_gene': 'IL11RA', 'score': 10.95}, {'connected_gene': 'GALT', 'score': 10.92}, {'connected_gene': 'RPP25L', 'score': 5.46}, {'connected_gene': 'FAM205A', 'score': 5.06}, {'connected_gene': 'CCL19', 'score': 0.37}]
chr9 GH09I034346 34346820 34348037 0.83 [{'connected_gene': 'MYORG', 'score': 11.88}, {'connected_gene': 'C9orf24', 'score': 11.8}, {'connected_gene': 'RNU2-50P', 'score': 10.65}, {'connected_gene': 'DNAI1', 'score': 10.09}, {'connected_gene': 'FAM219A', 'score': 10.08}, {'connected_gene': 'IMPDH1P1', 'score': 9.98}, {'connected_gene': 'DCAF12', 'score': 9.98}, {'connected_gene': 'ENSG00000230729', 'score': 9.9}, {'connected_gene': 'RPP25L', 'score': 9.85}, {'connected_gene': 'KIF24', 'score': 8.12}, {'connected_gene': 'GC09P034356', 'score': 0.44}, {'connected_gene': 'NUDT2', 'score': 0.37}]
chr9 GH09I034939 34939505 34940980 0.49 [{'connected_gene': 'SIT1', 'score': 7.23}, {'connected_gene': 'RPP25L', 'score': 4.38}, {'connected_gene': 'PIR41300', 'score': 0.77}, {'connected_gene': 'PIR62069', 'score': 0.26}, {'connected_gene': 'PHF24', 'score': 0.12}]
chr9 GH09I034565 34565761 34566868 0.38 [{'connected_gene': 'CNTFR-AS1', 'score': 550.77}, {'connected_gene': 'RPP25L', 'score': 9.39}, {'connected_gene': 'PIGO', 'score': 5.29}, {'connected_gene': 'GC09M034561', 'score': 0.77}, {'connected_gene': 'CNTFR', 'score': 0.34}]
chr9 GH09I034452 34452223 34452410 0.22 [{'connected_gene': 'ENHO', 'score': 12.23}, {'connected_gene': 'CNTFR', 'score': 11.78}, {'connected_gene': 'RPP25L', 'score': 11.01}, {'connected_gene': 'ENSG00000230729', 'score': 10.73}, {'connected_gene': 'DCTN3', 'score': 9.77}, {'connected_gene': 'NUDT2', 'score': 6.5}, {'connected_gene': 'ARID3C', 'score': 5.97}, {'connected_gene': 'FAM219A', 'score': 1.82}, {'connected_gene': 'DNAI1', 'score': 0.44}, {'connected_gene': 'C9orf24', 'score': 0.23}]
chr9 GH09I034372 34372400 34373431 0.49 [{'connected_gene': 'NUDT2', 'score': 31.68}, {'connected_gene': 'C9orf24', 'score': 12.27}, {'connected_gene': 'RNU2-50P', 'score': 10.51}, {'connected_gene': 'DNAI1', 'score': 10.13}, {'connected_gene': 'FAM219A', 'score': 10.12}, {'connected_gene': 'RPP25L', 'score': 9.94}, {'connected_gene': 'KIF24', 'score': 8.67}, {'connected_gene': 'UBAP1', 'score': 7.8}, {'connected_gene': 'MYORG', 'score': 0.77}]
chr9 GH09I034341 34341312 34346340 1.02 [{'connected_gene': 'NUDT2', 'score': 50.6}, {'connected_gene': 'MYORG', 'score': 11.86}, {'connected_gene': 'C9orf24', 'score': 11.8}, {'connected_gene': 'RNU2-50P', 'score': 10.65}, {'connected_gene': 'DNAI1', 'score': 10.08}, {'connected_gene': 'FAM219A', 'score': 10.08}, {'connected_gene': 'IMPDH1P1', 'score': 9.98}, {'connected_gene': 'DCAF12', 'score': 9.98}, {'connected_gene': 'ENSG00000230729', 'score': 9.9}, {'connected_gene': 'RPP25L', 'score': 9.85}, {'connected_gene': 'FANCG', 'score': 7.9}, {'connected_gene': 'UBAP1', 'score': 7.81}, {'connected_gene': 'GC09P034356', 'score': 0.39}, {'connected_gene': 'KIF24', 'score': 0.37}]
chr9 GH09I034363 34363035 34365649 0.92 [{'connected_gene': 'DNAI1', 'score': 10.54}, {'connected_gene': 'FAM219A', 'score': 10.54}, {'connected_gene': 'RPP25L', 'score': 10.29}, {'connected_gene': 'ENSG00000230729', 'score': 9.8}, {'connected_gene': 'ENSG00000228352', 'score': 9.74}, {'connected_gene': 'UBAP1', 'score': 7.8}, {'connected_gene': 'KIF24', 'score': 0.77}, {'connected_gene': 'MYORG', 'score': 0.39}]
chr9 GH09I034430 34430863 34431012 0.52 [{'connected_gene': 'DNAI1', 'score': 12.28}, {'connected_gene': 'FAM219A', 'score': 12.28}, {'connected_gene': 'ENSG00000230729', 'score': 11.29}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.72}, {'connected_gene': 'ARID3C', 'score': 10.61}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'C9orf24', 'score': 0.29}]
chr9 GH09I034431 34431083 34431232 0.59 [{'connected_gene': 'DNAI1', 'score': 12.28}, {'connected_gene': 'FAM219A', 'score': 12.28}, {'connected_gene': 'ENSG00000230729', 'score': 11.29}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.72}, {'connected_gene': 'ARID3C', 'score': 10.61}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'C9orf24', 'score': 0.29}]
chr9 GH09I034573 34573699 34575506 0.2 [{'connected_gene': 'GALT', 'score': 23.49}, {'connected_gene': 'ENSG00000232983', 'score': 13.56}, {'connected_gene': 'RPP25L', 'score': 11.62}, {'connected_gene': 'ENHO', 'score': 11.17}, {'connected_gene': 'ENSG00000230729', 'score': 11.0}, {'connected_gene': 'DCTN3', 'score': 10.42}, {'connected_gene': 'ARID3C', 'score': 10.4}, {'connected_gene': 'SIGMAR1', 'score': 10.37}, {'connected_gene': 'NUDT2', 'score': 4.49}, {'connected_gene': 'GC09P034579', 'score': 0.77}, {'connected_gene': 'CNTFR-AS1', 'score': 0.44}, {'connected_gene': 'LOC105376023', 'score': 0.44}, {'connected_gene': 'CNTFR', 'score': 0.37}]
chr9 GH09I034606 34606698 34607725 0.57 [{'connected_gene': 'GALT', 'score': 16.04}, {'connected_gene': 'RPP25L', 'score': 13.58}, {'connected_gene': 'CNTFR', 'score': 0.37}]
chr9 GH09I034987 34987964 34998595 2.46 [{'connected_gene': 'DNAJB5', 'score': 557.09}, {'connected_gene': 'UBAP2', 'score': 25.58}, {'connected_gene': 'VCP', 'score': 20.65}, {'connected_gene': 'FANCG', 'score': 16.22}, {'connected_gene': 'PIGO', 'score': 12.05}, {'connected_gene': 'FAM205A', 'score': 11.95}, {'connected_gene': 'C9orf131', 'score': 10.93}, {'connected_gene': 'ATP8B5P', 'score': 10.32}, {'connected_gene': 'RPP25L', 'score': 6.57}, {'connected_gene': 'FAM205C', 'score': 5.24}, {'connected_gene': 'IL11RA', 'score': 4.45}, {'connected_gene': 'GC09P034997', 'score': 0.77}, {'connected_gene': 'DNAJB5-AS1', 'score': 0.77}]
chr9 GH09I034501 34501873 34502439 0.54 [{'connected_gene': 'FAM219A', 'score': 17.03}, {'connected_gene': 'ENSG00000232983', 'score': 12.14}, {'connected_gene': 'CNTFR-AS1', 'score': 12.08}, {'connected_gene': 'DNAI1', 'score': 11.35}, {'connected_gene': 'RPP25L', 'score': 10.43}, {'connected_gene': 'ARID3C', 'score': 10.24}, {'connected_gene': 'SIGMAR1', 'score': 10.23}, {'connected_gene': 'GALT', 'score': 10.23}, {'connected_gene': 'PIR54959', 'score': 0.39}, {'connected_gene': 'RN7SKP24', 'score': 0.34}]
chr9 GH09I034437 34437463 34437632 0.62 [{'connected_gene': 'FAM219A', 'score': 12.3}, {'connected_gene': 'NUDT2', 'score': 11.53}, {'connected_gene': 'ENSG00000230729', 'score': 11.31}, {'connected_gene': 'RPP25L', 'score': 10.99}, {'connected_gene': 'ENHO', 'score': 10.73}, {'connected_gene': 'ARID3C', 'score': 10.62}, {'connected_gene': 'SIGMAR1', 'score': 10.61}, {'connected_gene': 'GALT', 'score': 10.61}, {'connected_gene': 'DCTN3', 'score': 10.32}, {'connected_gene': 'DNAI1', 'score': 0.37}, {'connected_gene': 'C9orf24', 'score': 0.28}]
chr9 GH09I034450 34450956 34451821 0.72 [{'connected_gene': 'RPP25L', 'score': 11.0}, {'connected_gene': 'ENHO', 'score': 10.97}, {'connected_gene': 'ENSG00000230729', 'score': 10.72}, {'connected_gene': 'CNTFR', 'score': 10.31}, {'connected_gene': 'DCTN3', 'score': 9.77}, {'connected_gene': 'FAM219A', 'score': 6.12}, {'connected_gene': 'DNAI1', 'score': 0.44}, {'connected_gene': 'C9orf24', 'score': 0.23}]
chr9 GH09I034715 34715210 34716361 0.2 [{'connected_gene': 'RPP25L', 'score': 10.1}, {'connected_gene': 'FAM205A', 'score': 4.9}, {'connected_gene': 'CCL21', 'score': 0.44}]
chr9 GH09I034558 34558214 34561309 0.77 [{'connected_gene': 'RPP25L', 'score': 9.49}, {'connected_gene': 'GALT', 'score': 7.74}, {'connected_gene': 'UBAP2', 'score': 4.94}, {'connected_gene': 'DNAJB5', 'score': 4.91}, {'connected_gene': 'GC09M034561', 'score': 0.77}, {'connected_gene': 'ENSG00000232983', 'score': 0.39}, {'connected_gene': 'CNTFR', 'score': 0.29}]
chr9 GH09I034610 34610877 34613339 1.96 [{'connected_gene': 'RPP25L', 'score': 560.55}, {'connected_gene': 'GALT', 'score': 15.13}, {'connected_gene': 'SIGMAR1', 'score': 7.14}, {'connected_gene': 'CNTFR', 'score': 0.34}]
chr9 GH09I034700 34700986 34702853 1.07 [{'connected_gene': 'RPP25L', 'score': 6.23}, {'connected_gene': 'DNAJB5', 'score': 4.37}, {'connected_gene': 'CCL21', 'score': 0.44}, {'connected_gene': 'CCL19', 'score': 0.39}]
chr9 GH09I034603 34603744 34603913 0.67 [{'connected_gene': 'RPP25L', 'score': 11.54}, {'connected_gene': 'CNTFR', 'score': 0.39}]
chr9 GH09I034593 34592823 34594019 0.56 [{'connected_gene': 'RPP25L', 'score': 13.13}, {'connected_gene': 'CNTFR', 'score': 0.77}]
chr9 GH09I034513 34513530 34514025 0.49 [{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'DNAI1', 'score': 11.19}, {'connected_gene': 'FAM219A', 'score': 11.19}, {'connected_gene': 'RPP25L', 'score': 10.85}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'FANCG', 'score': 5.0}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.28}]
chr9 GH09I034511 34511223 34511372 0.2 [{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'DNAI1', 'score': 11.2}, {'connected_gene': 'FAM219A', 'score': 11.2}, {'connected_gene': 'RPP25L', 'score': 10.84}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.29}]
chr9 GH09I034591 34590140 34590312 1.17 [{'connected_gene': 'CNTFR', 'score': 550.77}, {'connected_gene': 'GALT', 'score': 4.73}, {'connected_gene': 'RPP25L', 'score': 0.34}]
chr9 GH09I034512 34512701 34513518 0.73 [{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'FAM219A', 'score': 11.2}, {'connected_gene': 'DNAI1', 'score': 11.19}, {'connected_gene': 'RPP25L', 'score': 10.85}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.29}]
chr9 GH09I034514 34512543 34512692 0.67 [{'connected_gene': 'CNTFR', 'score': 11.31}, {'connected_gene': 'FAM219A', 'score': 11.2}, {'connected_gene': 'DNAI1', 'score': 11.19}, {'connected_gene': 'RPP25L', 'score': 10.85}, {'connected_gene': 'SIGMAR1', 'score': 10.25}, {'connected_gene': 'GALT', 'score': 10.25}, {'connected_gene': 'ARID3C', 'score': 10.25}, {'connected_gene': 'NUDT2', 'score': 5.81}, {'connected_gene': 'PIR54959', 'score': 0.77}, {'connected_gene': 'RN7SKP24', 'score': 0.29}]
chr9 GH09I034594 34590483 34591972 0.8 [{'connected_gene': 'CNTFR', 'score': 550.77}, {'connected_gene': 'ENSG00000230074', 'score': 14.03}, {'connected_gene': 'RPP25L', 'score': 11.73}]
chr9 GH09I034592 34592023 34592159 0.7 [{'connected_gene': 'CNTFR', 'score': 550.77}, {'connected_gene': 'ENSG00000230074', 'score': 14.81}, {'connected_gene': 'RPP25L', 'score': 0.34}]
chr9 GH09I034619 34619619 34621153 1.88 [{'connected_gene': 'DCTN3', 'score': 550.77}, {'connected_gene': 'UBAP2', 'score': 25.59}, {'connected_gene': 'FAM205A', 'score': 12.03}, {'connected_gene': 'RPP25L', 'score': 11.83}, {'connected_gene': 'C9orf131', 'score': 10.73}, {'connected_gene': 'ATP8B5P', 'score': 10.3}, {'connected_gene': 'VCP', 'score': 10.1}, {'connected_gene': 'SIGMAR1', 'score': 6.85}]
chr9 GH09I034662 34662238 34667286 2.41 [{'connected_gene': 'ENSG00000230074', 'score': 572.11}, {'connected_gene': 'LOC730098', 'score': 550.77}, {'connected_gene': 'ENSG00000261215', 'score': 550.77}, {'connected_gene': 'CCL27', 'score': 550.77}, {'connected_gene': 'GALT', 'score': 16.08}, {'connected_gene': 'ENSG00000228352', 'score': 11.27}, {'connected_gene': 'RPP25L', 'score': 11.16}, {'connected_gene': 'ENSG00000231393', 'score': 10.49}, {'connected_gene': 'SIGMAR1', 'score': 4.78}]
chr9 GH09I034441 34441001 34441200 0.2 [{'connected_gene': 'ENSG00000232983', 'score': 11.27}, {'connected_gene': 'CNTFR-AS1', 'score': 11.26}, {'connected_gene': 'RPP25L', 'score': 10.76}, {'connected_gene': 'ENHO', 'score': 10.73}, {'connected_gene': 'ARID3C', 'score': 10.37}, {'connected_gene': 'ENSG00000230729', 'score': 10.26}, {'connected_gene': 'DCTN3', 'score': 10.21}, {'connected_gene': 'DNAI1', 'score': 0.37}, {'connected_gene': 'FAM219A', 'score': 0.37}, {'connected_gene': 'C9orf24', 'score': 0.26}]
chr9 GH09I034548 34548003 34548212 0.73 [{'connected_gene': 'ENSG00000232983', 'score': 550.77}, {'connected_gene': 'NUDT2', 'score': 7.96}, {'connected_gene': 'GALT', 'score': 6.28}, {'connected_gene': 'RPP25L', 'score': 5.1}, {'connected_gene': 'GC09M034561', 'score': 0.37}]
chr9 GH09I034685 34685204 34687001 0.31 [{'connected_gene': 'ENSG00000230074', 'score': 22.51}, {'connected_gene': 'GALT', 'score': 15.84}, {'connected_gene': 'RPP25L', 'score': 12.41}, {'connected_gene': 'CCL19', 'score': 0.44}, {'connected_gene': 'PIR49106', 'score': 0.39}]
chr9 GH09I034575 34575665 34580790 0.77 [{'connected_gene': 'GC09P034579', 'score': 550.77}, {'connected_gene': 'GC09P034580', 'score': 550.77}, {'connected_gene': 'GALT', 'score': 26.13}, {'connected_gene': 'RPP25L', 'score': 22.39}, {'connected_gene': 'ENSG00000230074', 'score': 15.55}, {'connected_gene': 'ENHO', 'score': 15.51}, {'connected_gene': 'FAM219A', 'score': 14.09}, {'connected_gene': 'ENSG00000232983', 'score': 13.54}, {'connected_gene': 'ARID3C', 'score': 12.12}, {'connected_gene': 'CNTFR', 'score': 11.37}, {'connected_gene': 'ENSG00000230729', 'score': 10.98}, {'connected_gene': 'SIGMAR1', 'score': 10.74}, {'connected_gene': 'DNAI1', 'score': 10.51}, {'connected_gene': 'DCTN3', 'score': 10.44}, {'connected_gene': 'IL11RA', 'score': 10.15}, {'connected_gene': 'CCL19', 'score': 9.62}, {'connected_gene': 'DNAJB5', 'score': 4.58}, {'connected_gene': 'PHF24', 'score': 3.22}, {'connected_gene': 'LOC105376023', 'score': 0.44}, {'connected_gene': 'CNTFR-AS1', 'score': 0.39}]