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
ENST00000252321 [[5153084, 5155949]] [[5153313, 5155155]]
NM_002234 [[5153084, 5155954]] [[5153313, 5155155]]
Promoter
Chrom Start End Description
chr12 5152939 5152954 CAGE_peak_5_at_KCNA5_5end
chr12 5153018 5153070 CAGE_peak_1_at_KCNA5_5end
chr12 5153088 5153101 CAGE_peak_4_at_KCNA5_5end
chr12 5153106 5153117 CAGE_peak_3_at_KCNA5_5end
chr12 5153193 5153203 CAGE_peak_2_at_KCNA5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I005429 5429195 5435179 2.22 [{'connected_gene': 'NTF3', 'score': 566.58}, {'connected_gene': 'LOC105369620', 'score': 550.77}, {'connected_gene': 'KCNA5', 'score': 6.34}, {'connected_gene': 'GC12M005446', 'score': 0.37}]
chr12 GH12I005036 5036076 5037112 0.2 [{'connected_gene': 'LOC390282', 'score': 0.77}, {'connected_gene': 'KCNA5', 'score': 0.44}]
chr12 GH12I005034 5034206 5035388 0.43 [{'connected_gene': 'LOC390282', 'score': 550.77}, {'connected_gene': 'KCNA5', 'score': 0.44}]
chr12 GH12I005035 5035399 5035998 0.2 [{'connected_gene': 'LOC390282', 'score': 0.77}, {'connected_gene': 'KCNA5', 'score': 0.44}]
chr12 GH12I005032 5032667 5034183 0.2 [{'connected_gene': 'LOC390282', 'score': 550.77}, {'connected_gene': 'KCNA5', 'score': 0.39}]
chr12 GH12I005441 5441075 5441224 0.43 [{'connected_gene': 'KCNA5', 'score': 9.93}, {'connected_gene': 'GC12M005446', 'score': 0.44}, {'connected_gene': 'NTF3', 'score': 0.44}]
chr12 GH12I005442 5441595 5441744 0.43 [{'connected_gene': 'KCNA5', 'score': 9.93}, {'connected_gene': 'GC12M005446', 'score': 0.44}, {'connected_gene': 'NTF3', 'score': 0.44}]
chr12 GH12I005082 5082671 5083856 0.31 [{'connected_gene': 'KCNA5', 'score': 11.76}, {'connected_gene': 'KCNA1', 'score': 9.74}, {'connected_gene': 'LOC105369618', 'score': 4.47}, {'connected_gene': 'LOC105369617', 'score': 0.28}, {'connected_gene': 'GC12P005552', 'score': 0.28}]
chr12 GH12I005084 5084355 5084504 0.76 [{'connected_gene': 'KCNA5', 'score': 11.32}, {'connected_gene': 'KCNA1', 'score': 9.74}, {'connected_gene': 'LOC105369617', 'score': 0.28}, {'connected_gene': 'GC12P005552', 'score': 0.28}]
chr12 GH12I005075 5075839 5081546 0.63 [{'connected_gene': 'KCNA5', 'score': 12.06}, {'connected_gene': 'LOC105369618', 'score': 5.19}, {'connected_gene': 'GC12P005552', 'score': 0.29}, {'connected_gene': 'LOC105369617', 'score': 0.26}]
chr12 GH12I005065 5065547 5067019 0.46 [{'connected_gene': 'KCNA5', 'score': 11.83}, {'connected_gene': 'GC12P005552', 'score': 0.34}, {'connected_gene': 'LOC105369617', 'score': 0.22}]
chr12 GH12I005064 5064242 5065113 0.38 [{'connected_gene': 'KCNA5', 'score': 11.83}, {'connected_gene': 'GC12P005552', 'score': 0.37}, {'connected_gene': 'LOC105369617', 'score': 0.22}]
chr12 GH12I005046 5046421 5048754 0.31 [{'connected_gene': 'KCNA5', 'score': 0.77}, {'connected_gene': 'GC12P005552', 'score': 0.77}, {'connected_gene': 'LOC105369617', 'score': 0.19}]
chr12 GH12I005022 5022555 5022704 0.59 [{'connected_gene': 'KCNA5', 'score': 12.04}, {'connected_gene': 'LOC100507560', 'score': 0.77}, {'connected_gene': 'LOC390282', 'score': 0.39}, {'connected_gene': 'ENSG00000256654', 'score': 0.14}]
chr12 GH12I005043 5043855 5044043 1.24 [{'connected_gene': 'KCNA5', 'score': 550.77}, {'connected_gene': 'GC12P005552', 'score': 550.77}]
chr12 GH12I005154 5154195 5154364 0.31 [{'connected_gene': 'LOC105369618', 'score': 18.17}, {'connected_gene': 'KCNA5', 'score': 10.6}, {'connected_gene': 'GC12P005653', 'score': 0.37}, {'connected_gene': 'GC12P005649', 'score': 0.37}, {'connected_gene': 'LOC105369617', 'score': 0.29}, {'connected_gene': 'LOC105369616', 'score': 0.25}]
chr12 GH12I005448 5448983 5449885 0.2 [{'connected_gene': 'GC12M005446', 'score': 550.77}, {'connected_gene': 'KCNA5', 'score': 10.21}, {'connected_gene': 'NTF3', 'score': 0.37}]