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
ENST00000299155 [[103388992, 103389068], [103390047, 103390166], [103390271, 103390316], [103394762, 103394850], [103395094, 103395312], [103395457, 103395595], [103395764, 103395873], [103395991, 103396074], [103396260, 103396423], [103396501, 103396664], [103396742, 103396830], [103396912, 103397529]] [[103389025, 103389068], [103390047, 103390166], [103390271, 103390316], [103394762, 103394850], [103395094, 103395312], [103395457, 103395595], [103395764, 103395873], [103395991, 103396074], [103396260, 103396423], [103396501, 103396664], [103396742, 103396830], [103396912, 103397017]]
ENST00000541086 [[103389258, 103390166], [103390271, 103390316], [103394762, 103394850], [103395094, 103395312], [103395457, 103395595], [103395764, 103395873], [103395991, 103396074], [103396260, 103396423], [103396501, 103396664], [103396742, 103396830], [103396912, 103397178]] None
ENST00000558590 [[103394981, 103395595], [103395764, 103395873], [103395991, 103396074], [103396260, 103396423], [103396501, 103396664], [103396742, 103396830], [103397924, 103398751], [103398940, 103399081], [103399349, 103399933]] None
ENST00000559442 [[103395028, 103395312], [103395457, 103395595], [103395764, 103395812]] None
ENST00000559525 [[103395145, 103395279], [103395457, 103395595], [103395764, 103395812]] [[103395145, 103395279], [103395457, 103395595], [103395764, 103395812]]
ENST00000559789 [[103395166, 103395292], [103396501, 103396664], [103396742, 103396830], [103396912, 103396928]] [[103395166, 103395292], [103396501, 103396664], [103396742, 103396830], [103396912, 103396928]]
ENST00000559507 [[103396443, 103396664], [103396742, 103396956]] None
NM_030943 [[103388992, 103389068], [103390047, 103390166], [103390271, 103390316], [103394762, 103394850], [103395094, 103395312], [103395457, 103395595], [103395764, 103395873], [103395991, 103396074], [103396260, 103396423], [103396501, 103396664], [103396742, 103396830], [103396912, 103397179]] [[103389025, 103389068], [103390047, 103390166], [103390271, 103390316], [103394762, 103394850], [103395094, 103395312], [103395457, 103395595], [103395764, 103395873], [103395991, 103396074], [103396260, 103396423], [103396501, 103396664], [103396742, 103396830], [103396912, 103397017]]
Promoter
Chrom Start End Description
chr14 103388976 103389025 CAGE_peak_1_at_AMN_5end
chr14 103389258 103389260 CAGE_peak_6_at_AMN_5end
chr14 103389369 103389380 CAGE_peak_3_at_AMN_5end
chr14 103389412 103389423 CAGE_peak_4_at_AMN_5end
chr14 103394963 103395021 CAGE_peak_2_at_AMN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I102951 102951184 102952702 0.51 [{'connected_gene': 'AMN', 'score': 4.89}, {'connected_gene': 'GC14P103297', 'score': 0.77}, {'connected_gene': 'PIR49144', 'score': 0.25}, {'connected_gene': 'CDC42BPB', 'score': 0.14}]
chr14 GH14I102948 102948709 102950561 0.92 [{'connected_gene': 'AMN', 'score': 4.92}, {'connected_gene': 'GC14P103297', 'score': 0.77}, {'connected_gene': 'PIR49144', 'score': 0.25}, {'connected_gene': 'CDC42BPB', 'score': 0.14}]
chr14 GH14I102922 102922092 102929229 2.32 [{'connected_gene': 'AMN', 'score': 556.08}, {'connected_gene': 'ENSG00000269940', 'score': 5.23}, {'connected_gene': 'ENSG00000259515', 'score': 5.19}]
chr14 GH14I102913 102913424 102914259 0.43 [{'connected_gene': 'AMN', 'score': 0.44}, {'connected_gene': 'PIR62674', 'score': 0.44}]
chr14 GH14I102916 102916684 102916833 0.2 [{'connected_gene': 'AMN', 'score': 0.44}, {'connected_gene': 'PIR62674', 'score': 0.44}]
chr14 GH14I102917 102917944 102918133 0.65 [{'connected_gene': 'AMN', 'score': 0.77}, {'connected_gene': 'PIR62674', 'score': 0.39}]
chr14 GH14I102535 102535942 102537247 0.77 [{'connected_gene': 'CINP', 'score': 15.32}, {'connected_gene': 'RCOR1', 'score': 11.89}, {'connected_gene': 'TECPR2', 'score': 10.49}, {'connected_gene': 'AMN', 'score': 5.7}, {'connected_gene': 'MOK', 'score': 4.75}, {'connected_gene': 'MIR4309', 'score': 0.77}, {'connected_gene': 'LOC105370680', 'score': 0.37}]
chr14 GH14I102507 102507423 102512293 2.41 [{'connected_gene': 'ANKRD9', 'score': 574.01}, {'connected_gene': 'LOC105370679', 'score': 550.77}, {'connected_gene': 'RCOR1', 'score': 10.85}, {'connected_gene': 'TECPR2', 'score': 10.38}, {'connected_gene': 'CINP', 'score': 10.38}, {'connected_gene': 'ZNF839', 'score': 6.3}, {'connected_gene': 'AMN', 'score': 1.73}]
chr14 GH14I102932 102932387 102932869 0.2 [{'connected_gene': 'ENSG00000259515', 'score': 550.77}, {'connected_gene': 'AMN', 'score': 0.39}, {'connected_gene': 'CDC42BPB', 'score': 0.13}]
chr14 GH14I102909 102909345 102909892 0.2 [{'connected_gene': 'PIR62674', 'score': 0.77}, {'connected_gene': 'AMN', 'score': 0.39}, {'connected_gene': 'TRAF3', 'score': 0.12}]
chr14 GH14I102930 102930561 102931957 0.84 [{'connected_gene': 'ENSG00000259515', 'score': 0.77}, {'connected_gene': 'AMN', 'score': 0.44}]
chr14 GH14I102931 102930364 102930513 0.58 [{'connected_gene': 'ENSG00000259515', 'score': 0.77}, {'connected_gene': 'AMN', 'score': 0.44}]
chr14 GH14I102929 102929489 102930064 0.66 [{'connected_gene': 'ENSG00000259515', 'score': 0.77}, {'connected_gene': 'AMN', 'score': 0.44}]
chr14 GH14I103007 103007269 103012202 1.03 [{'connected_gene': 'GC14M102996', 'score': 550.77}, {'connected_gene': 'TRAF3', 'score': 10.37}, {'connected_gene': 'AMN', 'score': 6.75}, {'connected_gene': 'ENSG00000269940', 'score': 4.65}, {'connected_gene': 'APOPT1', 'score': 4.17}, {'connected_gene': 'PIR49144', 'score': 0.39}, {'connected_gene': 'CDC42BPB', 'score': 0.25}]