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
ENST00000441964 [[43120723, 43123028], [43131979, 43132101], [43147327, 43147431]] [[43121180, 43122923]]
ENST00000344697 [[43120725, 43123028], [43147327, 43147568]] [[43121180, 43122923]]
NM_032806 [[43120720, 43123028], [43147327, 43147575]] [[43121180, 43122923]]
Promoter
Chrom Start End Description
chr3 43147498 43147546 CAGE_peak_2_at_C3orf39_5end
chr3 43147549 43147590 CAGE_peak_1_at_C3orf39_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I043011 43011405 43025933 1.07 [{'connected_gene': 'POMGNT2', 'score': 16.77}, {'connected_gene': 'FAM198A', 'score': 5.24}, {'connected_gene': 'HIGD1A', 'score': 4.45}, {'connected_gene': 'PIR62180', 'score': 0.39}, {'connected_gene': 'PIR49761', 'score': 0.31}, {'connected_gene': 'ENSG00000273291', 'score': 0.08}]
chr3 GH03I043027 43027884 43029517 0.63 [{'connected_gene': 'POMGNT2', 'score': 15.73}, {'connected_gene': 'FAM198A', 'score': 7.17}, {'connected_gene': 'PIR62180', 'score': 0.77}, {'connected_gene': 'PIR49761', 'score': 0.28}, {'connected_gene': 'ENSG00000273291', 'score': 0.08}]
chr3 GH03I043105 43105089 43106678 1.95 [{'connected_gene': 'POMGNT2', 'score': 563.48}, {'connected_gene': 'NKTR', 'score': 13.23}, {'connected_gene': 'HIGD1A', 'score': 5.03}, {'connected_gene': 'ENSG00000271941', 'score': 4.39}, {'connected_gene': 'ENSG00000227245', 'score': 0.37}]
chr3 GH03I043162 43162075 43164331 0.83 [{'connected_gene': 'POMGNT2', 'score': 10.72}, {'connected_gene': 'CCDC13', 'score': 4.27}, {'connected_gene': 'LOC105377051', 'score': 0.39}, {'connected_gene': 'GC03P043189', 'score': 0.31}, {'connected_gene': 'GC03P043127', 'score': 0.28}]
chr3 GH03I043155 43155036 43155732 0.62 [{'connected_gene': 'POMGNT2', 'score': 15.4}, {'connected_gene': 'LOC105377051', 'score': 0.77}, {'connected_gene': 'GC03P043127', 'score': 0.31}, {'connected_gene': 'GC03P043189', 'score': 0.29}]
chr3 GH03I043133 43133269 43133418 0.46 [{'connected_gene': 'POMGNT2', 'score': 11.43}, {'connected_gene': 'GC03P043127', 'score': 0.44}, {'connected_gene': 'LOC105377051', 'score': 0.37}]
chr3 GH03I042999 42999263 43002609 1.2 [{'connected_gene': 'FAM198A', 'score': 18.56}, {'connected_gene': 'POMGNT2', 'score': 9.89}, {'connected_gene': 'PIR49761', 'score': 0.44}, {'connected_gene': 'PIR62180', 'score': 0.29}, {'connected_gene': 'ENSG00000273291', 'score': 0.08}]
chr3 GH03I042134 42134704 42136515 0.89 [{'connected_gene': 'NKTR', 'score': 21.93}, {'connected_gene': 'ZNF662', 'score': 11.16}, {'connected_gene': 'SEC22C', 'score': 10.61}, {'connected_gene': 'POMGNT2', 'score': 10.54}, {'connected_gene': 'ULK4', 'score': 10.14}, {'connected_gene': 'CTNNB1', 'score': 9.73}, {'connected_gene': 'TRAK1', 'score': 4.59}, {'connected_gene': 'GC03M042146', 'score': 0.39}, {'connected_gene': 'GC03P042123', 'score': 0.39}]
chr3 GH03I042741 42741670 42743390 0.59 [{'connected_gene': 'NKTR', 'score': 21.99}, {'connected_gene': 'ZNF662', 'score': 19.77}, {'connected_gene': 'CCDC13-AS1', 'score': 15.1}, {'connected_gene': 'LINC02158', 'score': 11.08}, {'connected_gene': 'CCDC13', 'score': 11.06}, {'connected_gene': 'KRBOX1', 'score': 10.86}, {'connected_gene': 'SEC22C', 'score': 10.68}, {'connected_gene': 'POMGNT2', 'score': 10.57}, {'connected_gene': 'SNRK-AS1', 'score': 10.29}]
chr3 GH03I042880 42880401 42881678 1.45 [{'connected_gene': 'NKTR', 'score': 18.34}, {'connected_gene': 'HIGD1A', 'score': 15.01}, {'connected_gene': 'SNRK-AS1', 'score': 13.2}, {'connected_gene': 'ENSG00000235288', 'score': 12.11}, {'connected_gene': 'ACKR2', 'score': 11.98}, {'connected_gene': 'ZNF662', 'score': 11.23}, {'connected_gene': 'CCDC13', 'score': 10.81}, {'connected_gene': 'LINC02158', 'score': 10.8}, {'connected_gene': 'KRBOX1', 'score': 10.68}, {'connected_gene': 'CYP8B1', 'score': 7.29}, {'connected_gene': 'POMGNT2', 'score': 1.24}, {'connected_gene': 'HNRNPA1P22', 'score': 0.44}, {'connected_gene': 'ENSG00000273328', 'score': 0.19}, {'connected_gene': 'ENSG00000273291', 'score': 0.19}]
chr3 GH03I043151 43151912 43154921 0.62 [{'connected_gene': 'LOC105377051', 'score': 550.77}, {'connected_gene': 'POMGNT2', 'score': 11.03}, {'connected_gene': 'FAM198A', 'score': 6.43}, {'connected_gene': 'NKTR', 'score': 4.85}, {'connected_gene': 'GC03P043127', 'score': 0.31}, {'connected_gene': 'GC03P043189', 'score': 0.28}]
chr3 GH03I042759 42759845 42763399 1.18 [{'connected_gene': 'CCDC13-AS1', 'score': 34.62}, {'connected_gene': 'KRBOX1', 'score': 10.91}, {'connected_gene': 'SEC22C', 'score': 10.67}, {'connected_gene': 'POMGNT2', 'score': 10.57}, {'connected_gene': 'ZNF662', 'score': 10.35}, {'connected_gene': 'HIGD1A', 'score': 9.46}, {'connected_gene': 'LINC02158', 'score': 0.44}, {'connected_gene': 'CCDC13', 'score': 0.39}, {'connected_gene': 'ENSG00000280571', 'score': 0.26}]
chr3 GH03I042819 42819334 42820618 1.19 [{'connected_gene': 'KRBOX1', 'score': 11.17}, {'connected_gene': 'SEC22C', 'score': 10.65}, {'connected_gene': 'POMGNT2', 'score': 10.58}, {'connected_gene': 'NKTR', 'score': 4.05}, {'connected_gene': 'ENSG00000273328', 'score': 0.39}, {'connected_gene': 'ENSG00000273291', 'score': 0.39}, {'connected_gene': 'ACKR2', 'score': 0.37}, {'connected_gene': 'ENSG00000235288', 'score': 0.29}]
chr3 GH03I043036 43036728 43037398 0.69 [{'connected_gene': 'ENSG00000232375', 'score': 550.77}, {'connected_gene': 'FAM198A', 'score': 17.85}, {'connected_gene': 'POMGNT2', 'score': 4.75}, {'connected_gene': 'PIR62180', 'score': 0.77}, {'connected_gene': 'ENSG00000273291', 'score': 0.07}]