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
ENST00000290429 [[43528211, 43529492], [43533086, 43533304], [43537167, 43537255], [43538931, 43539400]] [[43529048, 43529492], [43533086, 43533304], [43537167, 43537255], [43538931, 43539354]]
ENST00000327555 [[43528885, 43529492], [43537167, 43537255], [43538931, 43539370]] [[43529460, 43529492], [43537167, 43537255], [43538931, 43539354]]
ENST00000608052 [[43536835, 43537255], [43538931, 43538970]] [[43537030, 43537255], [43538931, 43538970]]
ENST00000464244 [[43537061, 43537255], [43538931, 43539286]] None
NR_046423 [[43528211, 43529492], [43537167, 43537255], [43538897, 43539403]] None
NM_173467 [[43528211, 43529492], [43533086, 43533304], [43537167, 43537255], [43538931, 43539403]] [[43529048, 43529492], [43533086, 43533304], [43537167, 43537255], [43538931, 43539354]]
NM_014507 [[43528211, 43529492], [43537167, 43537255], [43538931, 43539403]] [[43529460, 43529492], [43537167, 43537255], [43538931, 43539354]]
Promoter
Chrom Start End Description
chr22 43539346 43539410 CAGE_peak_1_at_MCAT_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I043376 43376814 43379034 1.06 [{'connected_gene': 'SCUBE1', 'score': 12.52}, {'connected_gene': 'LOC101927447', 'score': 12.37}, {'connected_gene': 'MPPED1', 'score': 11.77}, {'connected_gene': 'ENSG00000234892', 'score': 11.29}, {'connected_gene': 'MCAT', 'score': 5.02}, {'connected_gene': 'LOC105373053', 'score': 0.39}]
chr22 GH22I043163 43163094 43164540 0.89 [{'connected_gene': 'TSPO', 'score': 21.21}, {'connected_gene': 'MCAT', 'score': 13.21}, {'connected_gene': 'TTLL12', 'score': 0.34}]
chr22 GH22I043168 43168204 43169169 0.4 [{'connected_gene': 'TSPO', 'score': 13.15}, {'connected_gene': 'MCAT', 'score': 12.5}, {'connected_gene': 'TTLL12', 'score': 0.37}]
chr22 GH22I043145 43145075 43149223 1.09 [{'connected_gene': 'TSPO', 'score': 21.6}, {'connected_gene': 'TTLL12', 'score': 4.99}, {'connected_gene': 'MCAT', 'score': 0.77}]
chr22 GH22I043110 43110475 43112145 2.01 [{'connected_gene': 'BIK', 'score': 564.19}, {'connected_gene': 'RPL5P34', 'score': 16.29}, {'connected_gene': 'POLDIP3', 'score': 12.91}, {'connected_gene': 'MCAT', 'score': 11.59}, {'connected_gene': 'ARFGAP3', 'score': 10.51}, {'connected_gene': 'RN7SKP80', 'score': 10.35}]
chr22 GH22I043121 43121113 43124663 0.49 [{'connected_gene': 'BIK', 'score': 9.15}, {'connected_gene': 'MCAT', 'score': 8.62}, {'connected_gene': 'TTLL12', 'score': 7.82}, {'connected_gene': 'TSPO', 'score': 7.5}]
chr22 GH22I043119 43119999 43120240 0.2 [{'connected_gene': 'BIK', 'score': 5.78}, {'connected_gene': 'MCAT', 'score': 0.34}]
chr22 GH22I043115 43115981 43116400 0.31 [{'connected_gene': 'BIK', 'score': 0.44}, {'connected_gene': 'MCAT', 'score': 0.31}]
chr22 GH22I043118 43118381 43119000 1.07 [{'connected_gene': 'BIK', 'score': 5.88}, {'connected_gene': 'MCAT', 'score': 0.34}]
chr22 GH22I043120 43120425 43120866 0.2 [{'connected_gene': 'BIK', 'score': 5.75}, {'connected_gene': 'MCAT', 'score': 0.34}]
chr22 GH22I042685 42685565 42690470 1.55 [{'connected_gene': 'A4GALT', 'score': 14.11}, {'connected_gene': 'CYB5R3', 'score': 11.97}, {'connected_gene': 'SERHL2', 'score': 7.2}, {'connected_gene': 'TSPO', 'score': 6.13}, {'connected_gene': 'MCAT', 'score': 1.59}, {'connected_gene': 'GC22M042670', 'score': 0.37}]
chr22 GH22I043126 43125000 43125476 0.7 [{'connected_gene': 'RPL5P34', 'score': 12.22}, {'connected_gene': 'RN7SKP80', 'score': 10.98}, {'connected_gene': 'POLDIP3', 'score': 9.96}, {'connected_gene': 'BIK', 'score': 0.39}, {'connected_gene': 'MCAT', 'score': 0.37}]
chr22 GH22I043105 43105415 43105550 0.2 [{'connected_gene': 'MCAT', 'score': 12.06}, {'connected_gene': 'TSPO', 'score': 11.45}, {'connected_gene': 'ARFGAP3', 'score': 9.51}, {'connected_gene': 'GC22M043099', 'score': 0.44}, {'connected_gene': 'BIK', 'score': 0.44}]
chr22 GH22I043103 43103644 43105239 1.6 [{'connected_gene': 'MCAT', 'score': 12.06}, {'connected_gene': 'TSPO', 'score': 11.89}, {'connected_gene': 'CYB5R3', 'score': 10.74}, {'connected_gene': 'ARFGAP3', 'score': 9.77}, {'connected_gene': 'BIK', 'score': 8.9}, {'connected_gene': 'CYP2D7', 'score': 4.92}, {'connected_gene': 'GC22M043099', 'score': 0.44}]
chr22 GH22I043136 43136355 43136544 0.69 [{'connected_gene': 'MCAT', 'score': 0.44}, {'connected_gene': 'BIK', 'score': 0.31}]
chr22 GH22I043135 43135536 43136084 0.31 [{'connected_gene': 'MCAT', 'score': 0.44}, {'connected_gene': 'BIK', 'score': 0.31}]
chr22 GH22I043133 43133535 43133684 0.2 [{'connected_gene': 'MCAT', 'score': 0.44}, {'connected_gene': 'BIK', 'score': 0.34}]
chr22 GH22I043093 43093606 43094811 0.86 [{'connected_gene': 'MCAT', 'score': 11.68}, {'connected_gene': 'ARFGAP3', 'score': 10.33}, {'connected_gene': 'LOC100506679', 'score': 4.48}, {'connected_gene': 'GC22P043093', 'score': 0.77}, {'connected_gene': 'GC22M043099', 'score': 0.44}]
chr22 GH22I043385 43385795 43385964 0.76 [{'connected_gene': 'MCAT', 'score': 5.53}, {'connected_gene': 'LOC105373053', 'score': 0.44}, {'connected_gene': 'SCUBE1', 'score': 0.26}]
chr22 GH22I043142 43142400 43144229 2.23 [{'connected_gene': 'MCAT', 'score': 557.22}, {'connected_gene': 'LOC100506679', 'score': 11.91}, {'connected_gene': 'RRP7BP', 'score': 11.06}, {'connected_gene': 'TTLL1', 'score': 10.65}, {'connected_gene': 'BIK', 'score': 9.13}, {'connected_gene': 'TSPO', 'score': 7.85}, {'connected_gene': 'TTLL12', 'score': 4.83}]
chr22 GH22I043010 43010530 43012948 0.97 [{'connected_gene': 'ARFGAP3', 'score': 15.05}, {'connected_gene': 'MCAT', 'score': 10.51}, {'connected_gene': 'PACSIN2', 'score': 9.67}, {'connected_gene': 'PIR35633', 'score': 0.31}]
chr22 GH22I042999 42999602 43005902 1.27 [{'connected_gene': 'ARFGAP3', 'score': 27.19}, {'connected_gene': 'LOC100506679', 'score': 13.38}, {'connected_gene': 'RRP7BP', 'score': 12.3}, {'connected_gene': 'ENSG00000261251', 'score': 11.4}, {'connected_gene': 'MCAT', 'score': 10.51}, {'connected_gene': 'A4GALT', 'score': 10.11}, {'connected_gene': 'PACSIN2', 'score': 9.88}, {'connected_gene': 'PIR35633', 'score': 0.37}]
chr22 GH22I042867 42867401 42868201 1.37 [{'connected_gene': 'ARFGAP3', 'score': 12.97}, {'connected_gene': 'LOC100506679', 'score': 10.89}, {'connected_gene': 'MCAT', 'score': 10.06}, {'connected_gene': 'ENSG00000227370', 'score': 4.42}, {'connected_gene': 'LOC101927393', 'score': 0.77}, {'connected_gene': 'PACSIN2', 'score': 0.11}]
chr22 GH22I042868 42868579 42869881 0.86 [{'connected_gene': 'ARFGAP3', 'score': 14.62}, {'connected_gene': 'LOC100506679', 'score': 10.9}, {'connected_gene': 'MCAT', 'score': 10.06}, {'connected_gene': 'LOC101927393', 'score': 0.77}, {'connected_gene': 'PACSIN2', 'score': 0.11}]
chr22 GH22I042866 42866037 42866740 0.31 [{'connected_gene': 'ARFGAP3', 'score': 14.59}, {'connected_gene': 'LOC100506679', 'score': 11.16}, {'connected_gene': 'MCAT', 'score': 10.09}, {'connected_gene': 'LOC101927393', 'score': 0.44}, {'connected_gene': 'PACSIN2', 'score': 0.11}]
chr22 GH22I042854 42854726 42858346 2.21 [{'connected_gene': 'ARFGAP3', 'score': 569.96}, {'connected_gene': 'LOC100506679', 'score': 22.66}, {'connected_gene': 'TTLL1', 'score': 14.15}, {'connected_gene': 'PACSIN2', 'score': 12.8}, {'connected_gene': 'RRP7BP', 'score': 11.1}, {'connected_gene': 'MCAT', 'score': 4.98}, {'connected_gene': 'LOC692246', 'score': 0.77}]
chr22 GH22I043066 43066853 43068204 1.07 [{'connected_gene': 'TTLL1', 'score': 13.04}, {'connected_gene': 'RPS25P10', 'score': 13.04}, {'connected_gene': 'BIK', 'score': 11.5}, {'connected_gene': 'A4GALT', 'score': 11.05}, {'connected_gene': 'MCAT', 'score': 10.93}, {'connected_gene': 'PIR49217', 'score': 0.37}, {'connected_gene': 'GC22P043084', 'score': 0.37}, {'connected_gene': 'GC22P043086', 'score': 0.37}, {'connected_gene': 'GC22P043085', 'score': 0.37}, {'connected_gene': 'LOC100506679', 'score': 0.31}]
chr22 GH22I043122 43119315 43119464 0.77 [{'connected_gene': 'TTLL12', 'score': 5.13}, {'connected_gene': 'BIK', 'score': 0.44}, {'connected_gene': 'MCAT', 'score': 0.34}]
chr22 GH22I043266 43266035 43268315 0.31 [{'connected_gene': 'TTLL12', 'score': 5.36}, {'connected_gene': 'MCAT', 'score': 4.59}, {'connected_gene': 'GC22M043260', 'score': 0.77}, {'connected_gene': 'LOC101927447', 'score': 0.44}, {'connected_gene': 'SCUBE1', 'score': 0.18}]
chr22 GH22I043182 43182567 43185080 1.31 [{'connected_gene': 'TTLL12', 'score': 27.03}, {'connected_gene': 'LOC105373051', 'score': 12.04}, {'connected_gene': 'MCAT', 'score': 11.96}, {'connected_gene': 'TSPO', 'score': 0.29}]
chr22 GH22I043226 43226305 43227294 0.58 [{'connected_gene': 'TTLL12', 'score': 12.77}, {'connected_gene': 'LOC101927447', 'score': 10.81}, {'connected_gene': 'SCUBE1', 'score': 10.69}, {'connected_gene': 'MCAT', 'score': 10.3}, {'connected_gene': 'MPPED1', 'score': 10.24}, {'connected_gene': 'ENSG00000234892', 'score': 0.44}, {'connected_gene': 'LOC105373051', 'score': 0.39}]
chr22 GH22I043012 43012992 43016188 2.5 [{'connected_gene': 'PACSIN2', 'score': 565.99}, {'connected_gene': 'POLDIP3', 'score': 11.84}, {'connected_gene': 'RPL5P34', 'score': 11.49}, {'connected_gene': 'ARFGAP3', 'score': 10.77}, {'connected_gene': 'NAGA', 'score': 10.56}, {'connected_gene': 'MCAT', 'score': 10.52}, {'connected_gene': 'PIR35633', 'score': 0.31}]
chr22 GH22I043006 43006728 43010272 1.78 [{'connected_gene': 'PACSIN2', 'score': 550.44}, {'connected_gene': 'ARFGAP3', 'score': 16.63}, {'connected_gene': 'MCAT', 'score': 10.51}, {'connected_gene': 'PIR35633', 'score': 0.34}]
chr22 GH22I043125 43125734 43130275 1.32 [{'connected_gene': 'RN7SKP80', 'score': 22.02}, {'connected_gene': 'RPL5P34', 'score': 19.55}, {'connected_gene': 'POLDIP3', 'score': 14.84}, {'connected_gene': 'BIK', 'score': 10.02}, {'connected_gene': 'MCAT', 'score': 8.4}, {'connected_gene': 'TTLL12', 'score': 6.99}]
chr22 GH22I043113 43113622 43115484 0.84 [{'connected_gene': 'ENSG00000273366', 'score': 4.74}, {'connected_gene': 'MCAT', 'score': 4.72}, {'connected_gene': 'BIK', 'score': 0.77}]
chr22 GH22I043099 43099855 43102478 0.85 [{'connected_gene': 'GC22M043099', 'score': 550.77}, {'connected_gene': 'TTLL1', 'score': 17.91}, {'connected_gene': 'LOC100506679', 'score': 13.06}, {'connected_gene': 'TSPO', 'score': 11.88}, {'connected_gene': 'MCAT', 'score': 11.7}, {'connected_gene': 'CYB5R3', 'score': 10.74}, {'connected_gene': 'ARFGAP3', 'score': 10.34}, {'connected_gene': 'BIK', 'score': 8.15}]