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
ENST00000513496 [[41925355, 41925600], [41929798, 41930019], [41934047, 41934123], [41934234, 41934411]] [[41925411, 41925600], [41929798, 41929804]]
ENST00000296812 [[41925355, 41925600], [41927114, 41927350], [41929798, 41930019], [41934047, 41934123], [41934234, 41935187]] [[41925411, 41925600], [41927114, 41927350], [41929798, 41930019], [41934047, 41934123], [41934234, 41934436]]
ENST00000281623 [[41925355, 41925600], [41927114, 41927350], [41929798, 41930019], [41934047, 41934123], [41934234, 41934410], [41939542, 41939718], [41941293, 41941845]] [[41925411, 41925600], [41927114, 41927350], [41929798, 41930019], [41934047, 41934123], [41934234, 41934410], [41939542, 41939718], [41941293, 41941383]]
ENST00000504463 [[41925400, 41925600], [41927114, 41927350], [41928619, 41928793], [41929798, 41930019]] [[41925411, 41925600], [41927114, 41927350], [41928619, 41928659]]
ENST00000509134 [[41925402, 41925600], [41927114, 41927350], [41929798, 41930019], [41934047, 41934123], [41934234, 41934410], [41941293, 41941670]] [[41925411, 41925600], [41927114, 41927350], [41929798, 41930019], [41934047, 41934123], [41934234, 41934410], [41941293, 41941313]]
ENST00000506496 [[41925422, 41925600], [41929798, 41930257]] None
ENST00000505566 [[41939399, 41939718], [41941293, 41941672]] None
NM_001297437 [[41925353, 41925600], [41927114, 41927350], [41929798, 41930019], [41934047, 41934123], [41934234, 41934410], [41941293, 41941672]] [[41925411, 41925600], [41927114, 41927350], [41929798, 41930019], [41934047, 41934123], [41934234, 41934410], [41941293, 41941313]]
NM_033484 [[41925355, 41925600], [41927114, 41927350], [41929798, 41930019], [41934047, 41934123], [41934234, 41935187]] [[41925411, 41925600], [41927114, 41927350], [41929798, 41930019], [41934047, 41934123], [41934234, 41934436]]
NM_012176 [[41925355, 41925600], [41927114, 41927350], [41929798, 41930019], [41934047, 41934123], [41934234, 41934410], [41939542, 41939718], [41941293, 41941672]] [[41925411, 41925600], [41927114, 41927350], [41929798, 41930019], [41934047, 41934123], [41934234, 41934410], [41939542, 41939718], [41941293, 41941383]]
Promoter
Chrom Start End Description
chr5 41925325 41925416 CAGE_peak_1_at_FBXO4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I041844 41844939 41844953 0.35 [{'connected_gene': 'OXCT1', 'score': 3.87}, {'connected_gene': 'FBXO4', 'score': 1.32}, {'connected_gene': 'LOC102723752', 'score': 0.34}, {'connected_gene': 'GC05M041733', 'score': 0.14}]
chr5 GH05I041869 41869015 41871603 1.99 [{'connected_gene': 'OXCT1', 'score': 556.04}, {'connected_gene': 'LOC102723752', 'score': 550.77}, {'connected_gene': 'OXCT1-AS1', 'score': 550.77}, {'connected_gene': 'FBXO4', 'score': 20.72}, {'connected_gene': 'C5orf51', 'score': 11.54}]
chr5 GH05I041871 41871697 41872048 0.89 [{'connected_gene': 'OXCT1', 'score': 550.77}, {'connected_gene': 'OXCT1-AS1', 'score': 550.77}, {'connected_gene': 'C5orf51', 'score': 11.54}, {'connected_gene': 'FBXO4', 'score': 10.79}, {'connected_gene': 'LOC102723752', 'score': 0.77}, {'connected_gene': 'RPS2P22', 'score': 0.34}]
chr5 GH05I041903 41903218 41905747 2.13 [{'connected_gene': 'C5orf51', 'score': 560.51}, {'connected_gene': 'FBXO4', 'score': 56.18}, {'connected_gene': 'SERBP1P6', 'score': 21.48}, {'connected_gene': 'OXCT1-AS1', 'score': 18.16}, {'connected_gene': 'CCDC152', 'score': 4.1}, {'connected_gene': 'PIR36450', 'score': 0.39}, {'connected_gene': 'GC05P041926', 'score': 0.39}]
chr5 GH05I041924 41924200 41926341 2.1 [{'connected_gene': 'FBXO4', 'score': 561.44}, {'connected_gene': 'OXCT1', 'score': 12.2}, {'connected_gene': 'RPSAP38', 'score': 0.31}]
chr5 GH05I041856 41856759 41856928 0.9 [{'connected_gene': 'FBXO4', 'score': 10.99}, {'connected_gene': 'C5orf51', 'score': 10.69}, {'connected_gene': 'OXCT1', 'score': 0.39}, {'connected_gene': 'LOC102723752', 'score': 0.39}, {'connected_gene': 'GC05M041733', 'score': 0.13}]
chr5 GH05I042583 42583016 42585428 0.92 [{'connected_gene': 'FBXO4', 'score': 4.84}, {'connected_gene': 'GHR', 'score': 4.15}, {'connected_gene': 'GC05M042543', 'score': 0.31}, {'connected_gene': 'GC05P042548', 'score': 0.28}]
chr5 GH05I042576 42576498 42581523 0.62 [{'connected_gene': 'FBXO4', 'score': 4.77}, {'connected_gene': 'GC05P042548', 'score': 0.29}, {'connected_gene': 'GC05M042543', 'score': 0.29}, {'connected_gene': 'GHR', 'score': 0.1}]
chr5 GH05I041921 41921021 41921958 0.57 [{'connected_gene': 'LOC100419715', 'score': 550.77}, {'connected_gene': 'PIR60775', 'score': 550.77}, {'connected_gene': 'GC05P041927', 'score': 550.77}, {'connected_gene': 'OXCT1', 'score': 18.13}, {'connected_gene': 'OXCT1-AS1', 'score': 10.75}, {'connected_gene': 'FBXO4', 'score': 0.77}, {'connected_gene': 'C5orf51', 'score': 0.37}]
chr5 GH05I041922 41922000 41922201 0.46 [{'connected_gene': 'LOC100419715', 'score': 550.77}, {'connected_gene': 'PIR60775', 'score': 550.77}, {'connected_gene': 'GC05P041927', 'score': 550.77}, {'connected_gene': 'OXCT1', 'score': 10.75}, {'connected_gene': 'OXCT1-AS1', 'score': 10.75}, {'connected_gene': 'FBXO4', 'score': 0.77}]
chr5 GH05I042483 42483147 42486633 0.38 [{'connected_gene': 'GC05P042486', 'score': 550.77}, {'connected_gene': 'GC05P042484', 'score': 550.77}, {'connected_gene': 'GC05P042485', 'score': 550.77}, {'connected_gene': 'GC05P042487', 'score': 550.77}, {'connected_gene': 'GHR', 'score': 7.29}, {'connected_gene': 'FBXO4', 'score': 4.1}]