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
ENST00000308963 [[66742747, 66743109], [66743650, 66744475]] [[66742833, 66743109], [66743650, 66743722]]
NM_001136485 [[66742753, 66743109], [66743650, 66744479]] [[66742833, 66743109], [66743650, 66743722]]
Promoter
Chrom Start End Description
chr11 66742742 66742753 CAGE_peak_3_at_C11orf86_5end
chr11 66742766 66742787 CAGE_peak_1_at_C11orf86_5end
chr11 66742795 66742818 CAGE_peak_2_at_C11orf86_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I067006 67006150 67007209 1.04 [{'connected_gene': 'SYT12', 'score': 550.77}, {'connected_gene': 'LOC105369352', 'score': 15.17}, {'connected_gene': 'ENSG00000258297', 'score': 15.0}, {'connected_gene': 'RBM14', 'score': 13.26}, {'connected_gene': 'ENSG00000254461', 'score': 11.37}, {'connected_gene': 'RBM4', 'score': 9.98}, {'connected_gene': 'MRPL11', 'score': 9.94}, {'connected_gene': 'C11orf86', 'score': 0.29}]
chr11 GH11I066962 66962053 66964143 0.49 [{'connected_gene': 'ACTN3', 'score': 7.84}, {'connected_gene': 'LOC101928069', 'score': 4.06}, {'connected_gene': 'PC', 'score': 0.77}, {'connected_gene': 'LOC105369355', 'score': 0.44}, {'connected_gene': 'C11orf86', 'score': 0.39}]
chr11 GH11I066903 66903850 66909415 1.82 [{'connected_gene': 'PC', 'score': 575.34}, {'connected_gene': 'GC11M066908', 'score': 550.77}, {'connected_gene': 'GC11M066909', 'score': 550.77}, {'connected_gene': 'C11orf80', 'score': 18.89}, {'connected_gene': 'RHOD', 'score': 18.42}, {'connected_gene': 'ACTN3', 'score': 16.0}, {'connected_gene': 'CTSF', 'score': 13.46}, {'connected_gene': 'RIN1', 'score': 12.58}, {'connected_gene': 'C11orf86', 'score': 10.91}, {'connected_gene': 'LRFN4', 'score': 10.85}, {'connected_gene': 'SYT12', 'score': 10.73}, {'connected_gene': 'LOC100505504', 'score': 9.63}]
chr11 GH11I066986 66986290 66986420 0.38 [{'connected_gene': 'PC', 'score': 11.22}, {'connected_gene': 'C11orf86', 'score': 0.39}, {'connected_gene': 'SYT12', 'score': 0.34}]
chr11 GH11I066964 66964211 66965649 0.43 [{'connected_gene': 'PC', 'score': 0.44}, {'connected_gene': 'LOC105369355', 'score': 0.39}, {'connected_gene': 'C11orf86', 'score': 0.39}]
chr11 GH11I067001 67001993 67003268 0.69 [{'connected_gene': 'RHOD', 'score': 11.05}, {'connected_gene': 'SYT12', 'score': 0.77}, {'connected_gene': 'C11orf86', 'score': 0.31}]
chr11 GH11I066981 66981589 66982779 1.25 [{'connected_gene': 'C11orf86', 'score': 0.44}, {'connected_gene': 'SYT12', 'score': 0.34}]
chr11 GH11I066984 66984001 66984400 1.08 [{'connected_gene': 'C11orf86', 'score': 0.44}, {'connected_gene': 'SYT12', 'score': 0.34}]
chr11 GH11I066973 66973492 66976565 1.69 [{'connected_gene': 'C11orf86', 'score': 550.77}, {'connected_gene': 'LOC105369352', 'score': 13.75}, {'connected_gene': 'EIF1AD', 'score': 11.55}, {'connected_gene': 'RBM14', 'score': 11.3}, {'connected_gene': 'MRPL11', 'score': 10.66}, {'connected_gene': 'ENSG00000258297', 'score': 10.66}, {'connected_gene': 'DPP3', 'score': 4.69}, {'connected_gene': 'SPTBN2', 'score': 4.37}, {'connected_gene': 'PC', 'score': 0.37}]
chr11 GH11I066965 66965661 66972443 1.69 [{'connected_gene': 'CLCF1', 'score': 17.27}, {'connected_gene': 'RAD9A', 'score': 14.17}, {'connected_gene': 'PC', 'score': 13.58}, {'connected_gene': 'RNU7-23P', 'score': 10.92}, {'connected_gene': 'CTSF', 'score': 6.72}, {'connected_gene': 'SPTBN2', 'score': 5.82}, {'connected_gene': 'GRK2', 'score': 2.58}, {'connected_gene': 'KDM2A', 'score': 1.66}, {'connected_gene': 'POLD4', 'score': 1.33}, {'connected_gene': 'C11orf86', 'score': 0.44}, {'connected_gene': 'LOC105369355', 'score': 0.39}]
chr11 GH11I066987 66987210 66987937 0.77 [{'connected_gene': 'LOC105369352', 'score': 13.75}, {'connected_gene': 'EIF1AD', 'score': 11.55}, {'connected_gene': 'RBM14', 'score': 11.3}, {'connected_gene': 'PC', 'score': 11.22}, {'connected_gene': 'MRPL11', 'score': 10.66}, {'connected_gene': 'ENSG00000258297', 'score': 10.65}, {'connected_gene': 'ALDH3B2', 'score': 6.14}, {'connected_gene': 'C11orf86', 'score': 0.39}, {'connected_gene': 'SYT12', 'score': 0.37}]
chr11 GH11I066996 66996538 66998030 0.92 [{'connected_gene': 'RBM14', 'score': 91.42}, {'connected_gene': 'LOC105369352', 'score': 76.58}, {'connected_gene': 'ENSG00000254461', 'score': 68.72}, {'connected_gene': 'ENSG00000258297', 'score': 68.16}, {'connected_gene': 'RBM4', 'score': 53.79}, {'connected_gene': 'ENSG00000255038', 'score': 50.66}, {'connected_gene': 'SF3B2', 'score': 47.33}, {'connected_gene': 'RAD9A', 'score': 42.41}, {'connected_gene': 'RCE1', 'score': 41.91}, {'connected_gene': 'ENSG00000245156', 'score': 41.79}, {'connected_gene': 'EIF1AD', 'score': 41.59}, {'connected_gene': 'KDM2A', 'score': 39.91}, {'connected_gene': 'ENSG00000255320', 'score': 22.52}, {'connected_gene': 'RPS6KB2', 'score': 20.74}, {'connected_gene': 'KLC2', 'score': 19.48}, {'connected_gene': 'MRPL11', 'score': 18.34}, {'connected_gene': 'B4GAT1', 'score': 12.64}, {'connected_gene': 'CORO1B', 'score': 12.5}, {'connected_gene': 'FAM86C2P', 'score': 12.4}, {'connected_gene': 'BBS1', 'score': 11.64}, {'connected_gene': 'CCS', 'score': 11.53}, {'connected_gene': 'RAB1B', 'score': 11.38}, {'connected_gene': 'RHOD', 'score': 11.01}, {'connected_gene': 'SSH3', 'score': 10.25}, {'connected_gene': 'CLCF1', 'score': 10.01}, {'connected_gene': 'PELI3', 'score': 9.97}, {'connected_gene': 'BRMS1', 'score': 9.83}, {'connected_gene': 'LOC101928069', 'score': 9.75}, {'connected_gene': 'SYT12', 'score': 0.44}, {'connected_gene': 'C11orf86', 'score': 0.34}]
chr11 GH11I066974 66973169 66973187 0.51 [{'connected_gene': 'RNU7-23P', 'score': 10.91}, {'connected_gene': 'C11orf86', 'score': 0.77}, {'connected_gene': 'PC', 'score': 0.39}]