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
ENST00000296802 [[74062816, 74063188], [74064755, 74064943], [74065038, 74065189], [74066455, 74066635], [74069692, 74069885], [74072428, 74072737]] [[74063185, 74063188], [74064755, 74064943], [74065038, 74065189], [74066455, 74066635], [74069692, 74069885], [74072428, 74072496]]
ENST00000514918 [[74063072, 74063188], [74064755, 74064943], [74065038, 74065379]] None
ENST00000513356 [[74063087, 74063188], [74064755, 74064943], [74065038, 74065189], [74066455, 74066635], [74067301, 74067478]] None
ENST00000515524 [[74065122, 74065189], [74066455, 74066635], [74072428, 74072629]] [[74065122, 74065189], [74066455, 74066635], [74072428, 74072476]]
NM_001271665 [[74062815, 74063188], [74064755, 74064943], [74065038, 74065189], [74066455, 74066635], [74072428, 74072737]] [[74063185, 74063188], [74064755, 74064943], [74065038, 74065189], [74066455, 74066635], [74072428, 74072476]]
NM_014886 [[74062815, 74063188], [74064755, 74064943], [74065038, 74065189], [74066455, 74066635], [74069692, 74069885], [74072428, 74072737]] [[74063185, 74063188], [74064755, 74064943], [74065038, 74065189], [74066455, 74066635], [74069692, 74069885], [74072428, 74072496]]
NR_073403 [[74062815, 74063188], [74064755, 74064943], [74065038, 74065189], [74066455, 74066635], [74068137, 74068246], [74069692, 74069885], [74072428, 74072737]] None
Promoter
Chrom Start End Description
chr5 74062806 74062840 CAGE_peak_3_at_NSA2_5end
chr5 74063059 74063089 CAGE_peak_1_at_NSA2_5end
chr5 74063120 74063131 CAGE_peak_2_at_NSA2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I074864 74864472 74870668 1.95 [{'connected_gene': 'FAM169A', 'score': 554.88}, {'connected_gene': 'LOC441086', 'score': 550.77}, {'connected_gene': 'NSA2', 'score': 79.43}, {'connected_gene': 'RPS26P26', 'score': 11.02}, {'connected_gene': 'GFM2', 'score': 4.89}, {'connected_gene': 'GC05M074884', 'score': 0.37}]
chr5 GH05I074798 74798798 74800238 0.31 [{'connected_gene': 'LOC260421', 'score': 550.77}, {'connected_gene': 'NSA2', 'score': 40.1}, {'connected_gene': 'RNU6-658P', 'score': 9.86}, {'connected_gene': 'GC05P074837', 'score': 0.28}, {'connected_gene': 'FAM169A', 'score': 0.2}]
chr5 GH05I075715 75715814 75718085 2.08 [{'connected_gene': 'POC5', 'score': 573.14}, {'connected_gene': 'LOC441087', 'score': 550.77}, {'connected_gene': 'RPS26P26', 'score': 32.35}, {'connected_gene': 'NSA2', 'score': 10.74}, {'connected_gene': 'F2R', 'score': 10.1}, {'connected_gene': 'ANKDD1B', 'score': 6.97}, {'connected_gene': 'RNU6-680P', 'score': 0.44}]
chr5 GH05I074764 74764568 74768503 2.3 [{'connected_gene': 'NSA2', 'score': 667.68}, {'connected_gene': 'GFM2', 'score': 557.52}, {'connected_gene': 'RPS26P26', 'score': 28.25}, {'connected_gene': 'POLK', 'score': 23.58}, {'connected_gene': 'POC5', 'score': 11.82}, {'connected_gene': 'ENSG00000272040', 'score': 11.22}, {'connected_gene': 'RNU6-658P', 'score': 10.3}, {'connected_gene': 'FAM169A', 'score': 6.87}]
chr5 GH05I074815 74815410 74818790 0.46 [{'connected_gene': 'NSA2', 'score': 89.53}, {'connected_gene': 'LOC260421', 'score': 0.37}, {'connected_gene': 'GC05P074837', 'score': 0.34}, {'connected_gene': 'FAM169A', 'score': 0.25}]
chr5 GH05I074849 74849314 74852867 0.98 [{'connected_gene': 'NSA2', 'score': 89.5}, {'connected_gene': 'RNU6-1330P', 'score': 10.62}, {'connected_gene': 'FAM169A', 'score': 6.11}, {'connected_gene': 'GC05M074847', 'score': 0.77}, {'connected_gene': 'LOC441086', 'score': 0.39}]
chr5 GH05I074832 74832682 74834538 0.81 [{'connected_gene': 'NSA2', 'score': 40.01}, {'connected_gene': 'RNU6-1330P', 'score': 11.88}, {'connected_gene': 'RNU6-658P', 'score': 10.2}, {'connected_gene': 'GC05P074837', 'score': 0.77}, {'connected_gene': 'FAM169A', 'score': 0.29}, {'connected_gene': 'LOC260421', 'score': 0.29}]
chr5 GH05I074761 74761140 74764436 0.85 [{'connected_gene': 'NSA2', 'score': 95.31}, {'connected_gene': 'RNU6-658P', 'score': 11.19}, {'connected_gene': 'GFM2', 'score': 6.56}, {'connected_gene': 'GC05M074726', 'score': 0.28}]
chr5 GH05I074672 74672985 74673813 0.87 [{'connected_gene': 'NSA2', 'score': 16.77}, {'connected_gene': 'RNU6-658P', 'score': 10.28}, {'connected_gene': 'HEXB', 'score': 6.19}, {'connected_gene': 'ENC1', 'score': 0.29}, {'connected_gene': 'GC05M074726', 'score': 0.23}]
chr5 GH05I074872 74872002 74872199 0.2 [{'connected_gene': 'NSA2', 'score': 70.9}, {'connected_gene': 'RNU6-658P', 'score': 9.62}, {'connected_gene': 'FAM169A', 'score': 0.44}, {'connected_gene': 'GC05M074884', 'score': 0.39}]
chr5 GH05I074882 74882302 74884440 0.2 [{'connected_gene': 'GC05M074884', 'score': 550.77}, {'connected_gene': 'ENSG00000212363', 'score': 550.77}, {'connected_gene': 'NSA2', 'score': 21.5}, {'connected_gene': 'RNU6-1330P', 'score': 10.92}, {'connected_gene': 'RNU6-658P', 'score': 10.11}, {'connected_gene': 'LOC105379039', 'score': 0.39}]
chr5 GH05I075457 75457660 75457977 0.73 [{'connected_gene': 'GC05P075458', 'score': 550.77}, {'connected_gene': 'RPS26P26', 'score': 16.62}, {'connected_gene': 'NSA2', 'score': 12.12}, {'connected_gene': 'HEXB', 'score': 9.91}, {'connected_gene': 'POC5', 'score': 8.48}, {'connected_gene': 'ENSG00000271815', 'score': 8.15}, {'connected_gene': 'COL4A3BP', 'score': 0.23}, {'connected_gene': 'GC05P075375', 'score': 0.18}]