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
ENST00000338033 [[144798428, 144798613], [144799863, 144799962], [144800216, 144800246], [144800381, 144800472], [144800944, 144801075], [144801162, 144801326], [144801512, 144801652], [144802399, 144802457], [144802872, 144803010], [144803169, 144803275], [144803400, 144803581], [144803718, 144803843], [144803921, 144804050], [144804244, 144804628]] [[144798547, 144798613], [144799863, 144799962], [144800216, 144800246], [144800381, 144800472], [144800944, 144801075], [144801162, 144801326], [144801512, 144801652], [144802399, 144802457], [144802872, 144803010], [144803169, 144803275], [144803400, 144803581], [144803718, 144803843], [144803921, 144804050], [144804244, 144804421]]
ENST00000484654 [[144798509, 144798613], [144799863, 144799962], [144800216, 144800246], [144800381, 144800472], [144800893, 144801075], [144801162, 144801326], [144801512, 144801652], [144802399, 144803010], [144803400, 144803581], [144803718, 144803843], [144803921, 144804050], [144804244, 144804628]] None
ENST00000475376 [[144798518, 144798613], [144800216, 144800472]] None
ENST00000395107 [[144798547, 144798613], [144799863, 144799962], [144800216, 144800246], [144800381, 144800472], [144800893, 144801075], [144801162, 144801326], [144801512, 144801652], [144802399, 144802461]] [[144798547, 144798613], [144799863, 144799962], [144800216, 144800246], [144800381, 144800472], [144800893, 144801075], [144801162, 144801326], [144801512, 144801652], [144802399, 144802461]]
ENST00000395108 [[144798547, 144798613], [144799863, 144799962], [144800216, 144800246], [144800381, 144800472], [144800944, 144801075], [144801162, 144801326], [144801512, 144801652], [144802717, 144802761]] [[144798547, 144798613], [144799863, 144799962], [144800216, 144800246], [144800381, 144800472], [144800944, 144801075], [144801162, 144801326], [144801512, 144801652], [144802717, 144802761]]
ENST00000533830 [[144802361, 144803010], [144803169, 144803275], [144803400, 144803526]] None
ENST00000461928 [[144802867, 144803010], [144803169, 144803843], [144803921, 144804029]] None
ENST00000528175 [[144803717, 144803843], [144803921, 144804302]] None
NM_139021 [[144798506, 144798613], [144799863, 144799962], [144800216, 144800246], [144800381, 144800472], [144800944, 144801075], [144801162, 144801326], [144801512, 144801652], [144802399, 144802457], [144802872, 144803010], [144803169, 144803275], [144803400, 144803581], [144803718, 144803843], [144803921, 144804050], [144804244, 144804633]] [[144798547, 144798613], [144799863, 144799962], [144800216, 144800246], [144800381, 144800472], [144800944, 144801075], [144801162, 144801326], [144801512, 144801652], [144802399, 144802457], [144802872, 144803010], [144803169, 144803275], [144803400, 144803581], [144803718, 144803843], [144803921, 144804050], [144804244, 144804421]]
Promoter
Chrom Start End Description
chr8 144798487 144798561 CAGE_peak_1_at_MAPK15_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I143885 143885234 143885439 0.44 [{'connected_gene': 'EPPK1', 'score': 8.37}, {'connected_gene': 'MAPK15', 'score': 1.86}, {'connected_gene': 'MROH6', 'score': 1.42}, {'connected_gene': 'PIR31533', 'score': 0.29}]
chr8 GH08I143731 143731693 143742802 2.52 [{'connected_gene': 'FAM83H', 'score': 565.33}, {'connected_gene': 'ENSG00000254548', 'score': 20.41}, {'connected_gene': 'FAM83H-AS1', 'score': 17.08}, {'connected_gene': 'LRRC14', 'score': 15.8}, {'connected_gene': 'LOC105375803', 'score': 12.88}, {'connected_gene': 'ZNF696', 'score': 11.43}, {'connected_gene': 'ZNF623', 'score': 10.83}, {'connected_gene': 'CYHR1', 'score': 10.1}, {'connected_gene': 'CPSF1', 'score': 9.92}, {'connected_gene': 'VPS28', 'score': 9.67}, {'connected_gene': 'ENSG00000254973', 'score': 6.81}, {'connected_gene': 'PLEC', 'score': 5.61}, {'connected_gene': 'MAPK15', 'score': 5.26}, {'connected_gene': 'MROH6', 'score': 2.72}, {'connected_gene': 'RHPN1', 'score': 1.73}, {'connected_gene': 'IQANK1', 'score': 0.77}, {'connected_gene': 'GC08P143741', 'score': 0.77}, {'connected_gene': 'MIR4664', 'score': 0.77}, {'connected_gene': 'PIR46516', 'score': 0.77}]
chr8 GH08I143716 143716091 143716401 1.67 [{'connected_gene': 'MAPK15', 'score': 558.07}, {'connected_gene': 'ENSG00000253931', 'score': 5.21}, {'connected_gene': 'ENSG00000254574', 'score': 0.77}]
chr8 GH08I143744 143744734 143745760 0.38 [{'connected_gene': 'PIR36953', 'score': 550.77}, {'connected_gene': 'PIR34971', 'score': 550.77}, {'connected_gene': 'ENSG00000254548', 'score': 15.41}, {'connected_gene': 'MAPK15', 'score': 7.24}, {'connected_gene': 'IQANK1', 'score': 0.39}, {'connected_gene': 'FAM83H-AS1', 'score': 0.39}, {'connected_gene': 'LOC105375800', 'score': 0.37}]
chr8 GH08I143717 143717018 143717267 0.8 [{'connected_gene': 'ENSG00000254548', 'score': 559.37}, {'connected_gene': 'MAPK15', 'score': 552.6}, {'connected_gene': 'FAM83H', 'score': 5.51}]
chr8 GH08I143718 143718871 143719000 0.9 [{'connected_gene': 'ENSG00000254548', 'score': 550.77}, {'connected_gene': 'MAPK15', 'score': 0.77}, {'connected_gene': 'PIR52954', 'score': 0.44}]