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
ENST00000379081 [[34398181, 34401120], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405913, 34405962], [34458234, 34458550]] [[34400961, 34401120], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405913, 34405962], [34458234, 34458258]]
ENST00000379087 [[34398181, 34401117], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405913, 34405962], [34458201, 34458550]] [[34400961, 34401117], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405913, 34405962], [34458201, 34458258]]
ENST00000379080 [[34398181, 34401117], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405862, 34405962], [34458234, 34458550]] [[34400961, 34401117], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405862, 34405962], [34458234, 34458258]]
ENST00000379084 [[34398181, 34398342], [34401025, 34401120], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405913, 34405962], [34458201, 34458550]] [[34398287, 34398342], [34401025, 34401120], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405913, 34405962], [34458201, 34458258]]
ENST00000379089 [[34398181, 34401117], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405862, 34405962], [34458201, 34458550]] [[34400961, 34401117], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405862, 34405962], [34458201, 34458258]]
ENST00000445726 [[34398182, 34401120], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405862, 34405962], [34458201, 34458568]] [[34400961, 34401120], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405862, 34405962], [34458201, 34458261]]
ENST00000297620 [[34398187, 34401120], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405913, 34405962], [34458201, 34458568]] [[34400961, 34401120], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405913, 34405962], [34458201, 34458261]]
ENST00000422409 [[34401010, 34401120], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405862, 34405962], [34458201, 34458550]] [[34401010, 34401120], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405862, 34405962], [34458201, 34458258]]
ENST00000379078 [[34402247, 34402465], [34402702, 34402805], [34405862, 34405962], [34458201, 34458550]] [[34402254, 34402465], [34402702, 34402805], [34405862, 34405962], [34458201, 34458258]]
NM_001184940 [[34398181, 34401120], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405862, 34405962], [34458201, 34458568]] [[34400961, 34401120], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405862, 34405962], [34458201, 34458261]]
NM_001184941 [[34398181, 34401117], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405862, 34405962], [34458201, 34458568]] [[34400961, 34401117], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405862, 34405962], [34458201, 34458261]]
NM_147202 [[34398181, 34401120], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405913, 34405962], [34458201, 34458568]] [[34400961, 34401120], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405913, 34405962], [34458201, 34458261]]
NM_001184943 [[34398181, 34401117], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405913, 34405962], [34458201, 34458568]] [[34400961, 34401117], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405913, 34405962], [34458201, 34458261]]
NM_001184942 [[34398181, 34401117], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405862, 34405962], [34458234, 34458568]] [[34400961, 34401117], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405862, 34405962], [34458234, 34458261]]
NM_001184945 [[34398181, 34401117], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405913, 34405962], [34458234, 34458568]] [[34400961, 34401117], [34401663, 34401718], [34402384, 34402465], [34402702, 34402805], [34405913, 34405962], [34458234, 34458261]]
Promoter
Chrom Start End Description
chr9 34458357 34458364 CAGE_peak_4_at_C9orf25_5end
chr9 34458474 34458492 CAGE_peak_2_at_C9orf25_5end
chr9 34458517 34458524 CAGE_peak_3_at_C9orf25_5end
chr9 34458531 34458582 CAGE_peak_1_at_C9orf25_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I034403 34403883 34404032 0.69 [{'connected_gene': 'C9orf24', 'score': 0.44}, {'connected_gene': 'DNAI1', 'score': 0.23}, {'connected_gene': 'FAM219A', 'score': 0.23}]
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 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 GH09I034446 34446723 34446872 0.2 [{'connected_gene': 'DNAI1', 'score': 0.39}, {'connected_gene': 'FAM219A', 'score': 0.39}, {'connected_gene': 'C9orf24', 'score': 0.25}]
chr9 GH09I034455 34454600 34454801 0.64 [{'connected_gene': 'DNAI1', 'score': 0.77}, {'connected_gene': 'FAM219A', 'score': 0.77}, {'connected_gene': 'C9orf24', 'score': 0.22}]
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 GH09I034463 34463803 34463952 0.74 [{'connected_gene': 'DNAI1', 'score': 0.44}, {'connected_gene': 'FAM219A', 'score': 0.44}, {'connected_gene': 'RN7SKP24', 'score': 0.39}]
chr9 GH09I034459 34459263 34459299 0.59 [{'connected_gene': 'DNAI1', 'score': 550.77}, {'connected_gene': 'FAM219A', 'score': 550.77}, {'connected_gene': 'RN7SKP24', 'score': 0.37}]
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 GH09I034500 34500763 34500932 0.65 [{'connected_gene': 'FAM219A', 'score': 15.32}, {'connected_gene': 'ENSG00000230729', 'score': 11.66}, {'connected_gene': 'ENHO', 'score': 11.48}, {'connected_gene': 'DNAI1', 'score': 11.31}, {'connected_gene': 'ARID3C', 'score': 10.21}, {'connected_gene': 'SIGMAR1', 'score': 10.2}, {'connected_gene': 'GALT', 'score': 10.2}, {'connected_gene': 'PIR54959', 'score': 0.37}, {'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 GH09I034454 34454843 34455072 0.69 [{'connected_gene': 'FAM219A', 'score': 6.45}, {'connected_gene': 'DNAI1', 'score': 0.77}, {'connected_gene': 'C9orf24', 'score': 0.22}]
chr9 GH09I034456 34456285 34459232 2 [{'connected_gene': 'FAM219A', 'score': 556.45}, {'connected_gene': 'DNAI1', 'score': 550.77}, {'connected_gene': 'FANCG', 'score': 13.79}, {'connected_gene': 'NUDT2', 'score': 5.46}]
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 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 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 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 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}]

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