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
ENST00000371007 [[67557847, 67559287], [67560917, 67561104], [67561934, 67562004], [67581034, 67581147], [67591434, 67591592], [67592848, 67592940], [67596824, 67596910], [67697528, 67697535]] [[67558687, 67559287], [67560917, 67561104], [67561934, 67562004], [67581034, 67581147], [67591434, 67591592], [67592848, 67592923]]
ENST00000448166 [[67559241, 67559287], [67560917, 67561104], [67561934, 67562004], [67568920, 67569065], [67577259, 67577327], [67581034, 67581147], [67591434, 67591592], [67592848, 67592940], [67596824, 67596910], [67697528, 67697536]] [[67559241, 67559287], [67560917, 67561104], [67561934, 67562004], [67568920, 67569065], [67577259, 67577327], [67581034, 67581147], [67591434, 67591592], [67592848, 67592923]]
ENST00000371006 [[67557858, 67559287], [67560917, 67561104], [67561934, 67562004], [67581034, 67581147], [67591434, 67591592], [67592848, 67592944]] [[67558687, 67559287], [67560917, 67561104], [67561934, 67562004], [67581034, 67581147], [67591434, 67591592], [67592848, 67592923]]
ENST00000371004 [[67558077, 67562004], [67591434, 67591592], [67592848, 67592940], [67596824, 67596910], [67600612, 67600653]] None
ENST00000544837 [[67558634, 67559287], [67560917, 67561104], [67561934, 67562004], [67581034, 67581147], [67591434, 67591592], [67592848, 67592940], [67596824, 67596910], [67600612, 67600639]] [[67558687, 67559287], [67560917, 67561104], [67561934, 67562004], [67581034, 67581147], [67591434, 67591592], [67592848, 67592923]]
ENST00000603691 [[67561978, 67562004], [67568920, 67569065], [67577259, 67577327], [67581034, 67581147], [67591434, 67591592], [67592848, 67592940], [67596824, 67596910], [67600612, 67600660]] [[67561978, 67562004], [67568920, 67569065], [67577259, 67577327], [67581034, 67581147], [67591434, 67591592], [67592848, 67592923]]
ENST00000475209 [[67568956, 67569065], [67577259, 67577327], [67579296, 67579439], [67581034, 67581147], [67591434, 67591592], [67592848, 67592940], [67596824, 67596910], [67600612, 67600660]] [[67579428, 67579439], [67581034, 67581147], [67591434, 67591592], [67592848, 67592923]]
NR_075077 [[67557858, 67559287], [67561934, 67562004], [67568920, 67569065], [67577259, 67577327], [67579296, 67579439], [67581034, 67581147], [67591434, 67591592], [67592848, 67592940], [67596824, 67596910], [67600612, 67600654]] None
NM_001276352 [[67557858, 67559287], [67561934, 67562004], [67568920, 67569065], [67577259, 67577327], [67581034, 67581147], [67591434, 67591592], [67592848, 67592940], [67596824, 67596910], [67600612, 67600654]] [[67559262, 67559287], [67561934, 67562004], [67568920, 67569065], [67577259, 67577327], [67581034, 67581147], [67591434, 67591592], [67592848, 67592923]]
NM_001276351 [[67557858, 67559287], [67560917, 67561104], [67561934, 67562004], [67581034, 67581147], [67591434, 67591592], [67592848, 67592940], [67596824, 67596910], [67600612, 67600654]] [[67558687, 67559287], [67560917, 67561104], [67561934, 67562004], [67581034, 67581147], [67591434, 67591592], [67592848, 67592923]]
Promoter
Chrom Start End Description
chr1 67600640 67600658 CAGE_peak_1_at_C1orf141_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I067018 67018727 67020893 0.8 [{'connected_gene': 'WDR78', 'score': 25.21}, {'connected_gene': 'C1orf141', 'score': 10.93}, {'connected_gene': 'ENSG00000252433', 'score': 10.83}, {'connected_gene': 'MIER1', 'score': 9.91}, {'connected_gene': 'SLC35D1', 'score': 5.72}]
chr1 GH01I067191 67191059 67193196 0.86 [{'connected_gene': 'C1orf141', 'score': 20.41}, {'connected_gene': 'MIER1', 'score': 5.04}, {'connected_gene': 'RNU6-586P', 'score': 0.77}, {'connected_gene': 'GC01M067171', 'score': 0.37}, {'connected_gene': 'IL23R', 'score': 0.23}]
chr1 GH01I067131 67131542 67131601 0.5 [{'connected_gene': 'C1orf141', 'score': 550.15}, {'connected_gene': 'IL23R', 'score': 0.44}, {'connected_gene': 'ENSG00000275678', 'score': 0.44}]
chr1 GH01I067563 67563723 67564911 0.88 [{'connected_gene': 'C1orf141', 'score': 2.67}, {'connected_gene': 'LOC105378780', 'score': 0.77}, {'connected_gene': 'RN7SL392P', 'score': 0.16}]
chr1 GH01I066463 66463974 66467051 0.85 [{'connected_gene': 'C1orf141', 'score': 4.34}, {'connected_gene': 'GC01M066486', 'score': 0.34}, {'connected_gene': 'GC01P066439', 'score': 0.31}]
chr1 GH01I067084 67084601 67084800 0.2 [{'connected_gene': 'C1orf141', 'score': 11.01}, {'connected_gene': 'GC01P067080', 'score': 0.77}, {'connected_gene': 'ENSG00000252433', 'score': 0.37}]
chr1 GH01I067112 67112538 67112687 0.56 [{'connected_gene': 'C1orf141', 'score': 12.3}, {'connected_gene': 'ENSG00000252433', 'score': 0.44}, {'connected_gene': 'ENSG00000275678', 'score': 0.39}]
chr1 GH01I067162 67162439 67163687 0.8 [{'connected_gene': 'SLC35D1', 'score': 5.9}, {'connected_gene': 'GC01P067166', 'score': 0.77}, {'connected_gene': 'IL23R', 'score': 0.34}, {'connected_gene': 'C1orf141', 'score': 0.2}]
chr1 GH01I067137 67137017 67139957 0.62 [{'connected_gene': 'IL23R', 'score': 550.77}, {'connected_gene': 'C1orf141', 'score': 12.0}, {'connected_gene': 'ENSG00000252433', 'score': 10.84}, {'connected_gene': 'RNU6-586P', 'score': 10.79}, {'connected_gene': 'SLC35D1', 'score': 8.9}, {'connected_gene': 'ENSG00000275678', 'score': 0.39}]
chr1 GH01I067149 67149001 67149614 0.98 [{'connected_gene': 'IL23R', 'score': 0.39}, {'connected_gene': 'GC01P067166', 'score': 0.37}, {'connected_gene': 'C1orf141', 'score': 0.18}]
chr1 GH01I067134 67134601 67135001 0.68 [{'connected_gene': 'IL23R', 'score': 0.77}, {'connected_gene': 'ENSG00000275678', 'score': 0.39}, {'connected_gene': 'C1orf141', 'score': 0.15}]
chr1 GH01I067194 67194148 67195646 0.97 [{'connected_gene': 'RNU6-586P', 'score': 550.77}, {'connected_gene': 'C1orf141', 'score': 6.18}, {'connected_gene': 'IL23R', 'score': 5.89}, {'connected_gene': 'SLC35D1', 'score': 3.12}, {'connected_gene': 'WDR78', 'score': 2.66}, {'connected_gene': 'IL12RB2', 'score': 2.32}, {'connected_gene': 'MIER1', 'score': 2.0}, {'connected_gene': 'INSL5', 'score': 1.31}, {'connected_gene': 'GC01M067171', 'score': 0.34}]
chr1 GH01I067170 67170449 67172207 0.74 [{'connected_gene': 'RNU6-586P', 'score': 12.06}, {'connected_gene': 'C1orf141', 'score': 11.13}, {'connected_gene': 'ENSG00000252433', 'score': 10.69}, {'connected_gene': 'GC01M067171', 'score': 0.77}, {'connected_gene': 'GC01P067166', 'score': 0.44}, {'connected_gene': 'IL23R', 'score': 0.29}]
chr1 GH01I067211 67211718 67211867 0.52 [{'connected_gene': 'RNU4ATAC4P', 'score': 10.71}, {'connected_gene': 'RNU6-586P', 'score': 0.37}, {'connected_gene': 'C1orf141', 'score': 0.34}, {'connected_gene': 'GC01M067200', 'score': 0.23}, {'connected_gene': 'IL23R', 'score': 0.19}]
chr1 GH01I067226 67226650 67227061 0.29 [{'connected_gene': 'RNU4ATAC4P', 'score': 11.67}, {'connected_gene': 'RNU6-586P', 'score': 11.2}, {'connected_gene': 'IL23R', 'score': 1.79}, {'connected_gene': 'WDR78', 'score': 1.71}, {'connected_gene': 'C1orf141', 'score': 0.77}, {'connected_gene': 'GC01M067200', 'score': 0.28}]
chr1 GH01I067096 67096878 67097567 0.31 [{'connected_gene': 'ENSG00000252433', 'score': 0.44}, {'connected_gene': 'GC01P067080', 'score': 0.37}, {'connected_gene': 'C1orf141', 'score': 0.12}]
chr1 GH01I067165 67165600 67167904 1.29 [{'connected_gene': 'GC01P067166', 'score': 550.77}, {'connected_gene': 'IL23R', 'score': 550.31}, {'connected_gene': 'C1orf141', 'score': 7.76}, {'connected_gene': 'SLC35D1', 'score': 5.88}, {'connected_gene': 'GC01M067171', 'score': 0.44}]