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
ENST00000375353 [[114462215, 114462288], [114469087, 114469230], [114472070, 114472133], [114498120, 114498210], [114502311, 114502392], [114503799, 114503885], [114504625, 114504785], [114507857, 114508001], [114514708, 114514899]] [[114462242, 114462288], [114469087, 114469230], [114472070, 114472133], [114498120, 114498210], [114502311, 114502392], [114503799, 114503885], [114504625, 114504785], [114507857, 114508001], [114514708, 114514876]]
ENST00000488362 [[114469087, 114469230], [114472070, 114472133], [114498120, 114498210], [114502311, 114502633]] None
ENST00000483678 [[114469136, 114469230], [114472070, 114472133], [114472565, 114472788]] None
ENST00000375348 [[114471108, 114471238], [114471859, 114471942], [114472070, 114472133], [114498120, 114498210], [114502311, 114502392], [114502790, 114502830]] [[114471108, 114471238], [114471859, 114471942], [114472070, 114472133], [114498120, 114498210], [114502311, 114502392], [114502790, 114502830]]
ENST00000498692 [[114502860, 114503044], [114503799, 114503838], [114504625, 114504785], [114507857, 114507863]] None
ENST00000467169 [[114506022, 114506305], [114507857, 114508001], [114514708, 114514926]] None
NM_182614 [[114462215, 114462288], [114469087, 114469230], [114472070, 114472133], [114498120, 114498210], [114502311, 114502392], [114503799, 114503885], [114504625, 114504785], [114507857, 114508001], [114514708, 114514899]] [[114462242, 114462288], [114469087, 114469230], [114472070, 114472133], [114498120, 114498210], [114502311, 114502392], [114503799, 114503885], [114504625, 114504785], [114507857, 114508001], [114514708, 114514876]]
Promoter
Chrom Start End Description
chr13 114462172 114462186 CAGE_peak_2_at_FAM70B_5end
chr13 114462193 114462251 CAGE_peak_1_at_FAM70B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I113774 113774328 113774477 0.57 [{'connected_gene': 'CDC16', 'score': 18.2}, {'connected_gene': 'UPF3A', 'score': 14.54}, {'connected_gene': 'TMEM255B', 'score': 0.37}, {'connected_gene': 'GAS6-AS1', 'score': 0.26}]
chr13 GH13I113646 113646171 113646850 0.31 [{'connected_gene': 'CDC16', 'score': 20.99}, {'connected_gene': 'GRK1', 'score': 20.48}, {'connected_gene': 'PCID2', 'score': 14.14}, {'connected_gene': 'CHAMP1', 'score': 10.1}, {'connected_gene': 'DCUN1D2', 'score': 9.16}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.16}, {'connected_gene': 'TMEM255B', 'score': 5.47}, {'connected_gene': 'PIR44469', 'score': 0.44}, {'connected_gene': 'GC13P113655', 'score': 0.44}, {'connected_gene': 'PIR60549', 'score': 0.23}]
chr13 GH13I113813 113813530 113814033 0.31 [{'connected_gene': 'GAS6-AS1', 'score': 561.19}, {'connected_gene': 'TMEM255B', 'score': 30.82}]
chr13 GH13I113842 113842995 113844628 0.31 [{'connected_gene': 'GAS6-AS1', 'score': 7.35}, {'connected_gene': 'GAS6', 'score': 7.11}, {'connected_gene': 'TMEM255B', 'score': 4.45}, {'connected_gene': 'LOC105370380', 'score': 0.31}]
chr13 GH13I113848 113848366 113850551 0.82 [{'connected_gene': 'GAS6-AS1', 'score': 8.67}, {'connected_gene': 'GAS6', 'score': 4.77}, {'connected_gene': 'TMEM255B', 'score': 4.73}, {'connected_gene': 'LOC105370380', 'score': 0.29}]
chr13 GH13I113656 113656983 113658953 0.93 [{'connected_gene': 'ATP4B', 'score': 550.77}, {'connected_gene': 'GRK1', 'score': 8.77}, {'connected_gene': 'TMEM255B', 'score': 5.05}, {'connected_gene': 'TMCO3', 'score': 4.81}, {'connected_gene': 'LINC00552', 'score': 4.71}, {'connected_gene': 'PIR44469', 'score': 0.77}, {'connected_gene': 'GC13P113655', 'score': 0.77}]
chr13 GH13I113835 113835464 113841636 1.25 [{'connected_gene': 'TMEM255B', 'score': 21.47}, {'connected_gene': 'CDC16', 'score': 17.77}, {'connected_gene': 'PCID2', 'score': 15.43}, {'connected_gene': 'CHAMP1', 'score': 11.51}, {'connected_gene': 'GAS6-AS1', 'score': 9.17}, {'connected_gene': 'GAS6', 'score': 5.37}, {'connected_gene': 'LOC105370380', 'score': 0.34}]
chr13 GH13I113772 113772045 113772249 0.56 [{'connected_gene': 'TMEM255B', 'score': 45.72}, {'connected_gene': 'CDC16', 'score': 21.01}, {'connected_gene': 'PCID2', 'score': 14.12}, {'connected_gene': 'CHAMP1', 'score': 10.11}, {'connected_gene': 'GAS6-AS1', 'score': 0.26}]
chr13 GH13I113758 113758375 113760984 2.08 [{'connected_gene': 'TMEM255B', 'score': 596.18}, {'connected_gene': 'PIR45723', 'score': 550.77}, {'connected_gene': 'UPF3A', 'score': 4.56}, {'connected_gene': 'GAS6-AS1', 'score': 0.22}]
chr13 GH13I113825 113825109 113826454 0.2 [{'connected_gene': 'TMEM255B', 'score': 24.07}, {'connected_gene': 'GAS6-AS1', 'score': 11.3}, {'connected_gene': 'GRK1', 'score': 4.91}, {'connected_gene': 'LOC105370380', 'score': 0.44}, {'connected_gene': 'GAS6', 'score': 0.28}]
chr13 GH13I113765 113765608 113765717 0.38 [{'connected_gene': 'TMEM255B', 'score': 43.7}, {'connected_gene': 'GAS6-AS1', 'score': 0.25}]
chr13 GH13I113784 113784420 113785668 0.46 [{'connected_gene': 'TMEM255B', 'score': 44.23}, {'connected_gene': 'GRK1', 'score': 5.19}, {'connected_gene': 'GAS6-AS1', 'score': 0.29}]
chr13 GH13I113724 113724403 113727041 1.38 [{'connected_gene': 'TMEM255B', 'score': 28.18}, {'connected_gene': 'GRK1', 'score': 10.94}, {'connected_gene': 'DCUN1D2', 'score': 4.76}, {'connected_gene': 'LINC00552', 'score': 0.31}, {'connected_gene': 'GC13M113749', 'score': 0.31}]
chr13 GH13I113745 113745698 113746827 0.72 [{'connected_gene': 'TMEM255B', 'score': 33.8}, {'connected_gene': 'GRK1', 'score': 9.94}, {'connected_gene': 'LINC00552', 'score': 0.77}, {'connected_gene': 'GC13M113749', 'score': 0.77}, {'connected_gene': 'LOC105377805', 'score': 0.44}]
chr13 GH13I113801 113801259 113802957 0.38 [{'connected_gene': 'TMEM255B', 'score': 46.73}, {'connected_gene': 'TMCO3', 'score': 5.92}, {'connected_gene': 'GAS6-AS1', 'score': 0.39}]
chr13 GH13I113651 113651903 113652631 0.2 [{'connected_gene': 'TMEM255B', 'score': 18.35}, {'connected_gene': 'PIR44469', 'score': 0.77}, {'connected_gene': 'GC13P113655', 'score': 0.77}, {'connected_gene': 'ATP4B', 'score': 0.44}, {'connected_gene': 'PIR60549', 'score': 0.22}]
chr13 GH13I113830 113830703 113831611 0.2 [{'connected_gene': 'TMEM255B', 'score': 10.96}, {'connected_gene': 'GAS6', 'score': 4.68}, {'connected_gene': 'GRK1', 'score': 4.66}, {'connected_gene': 'LINC00565', 'score': 4.5}, {'connected_gene': 'LOC105370380', 'score': 0.39}, {'connected_gene': 'GAS6-AS1', 'score': 0.37}]
chr13 GH13I113843 113842249 113842887 0.2 [{'connected_gene': 'TMEM255B', 'score': 8.12}, {'connected_gene': 'GAS6', 'score': 0.34}, {'connected_gene': 'LOC105370380', 'score': 0.31}, {'connected_gene': 'GAS6-AS1', 'score': 0.31}]
chr13 GH13I113874 113874397 113875724 0.46 [{'connected_gene': 'TMEM255B', 'score': 4.68}, {'connected_gene': 'ENSG00000237699', 'score': 0.77}, {'connected_gene': 'GAS6-AS2', 'score': 0.39}]
chr13 GH13I113736 113736201 113737061 0.76 [{'connected_gene': 'TMEM255B', 'score': 28.77}, {'connected_gene': 'LINC00552', 'score': 0.39}, {'connected_gene': 'GC13M113749', 'score': 0.39}, {'connected_gene': 'GRK1', 'score': 0.2}]
chr13 GH13I113728 113728753 113730087 0.54 [{'connected_gene': 'TMEM255B', 'score': 31.7}, {'connected_gene': 'LINC00552', 'score': 0.34}, {'connected_gene': 'GC13M113749', 'score': 0.34}, {'connected_gene': 'GRK1', 'score': 0.21}]
chr13 GH13I113859 113859151 113865108 2.58 [{'connected_gene': 'GAS6', 'score': 572.04}, {'connected_gene': 'CDC16', 'score': 28.74}, {'connected_gene': 'UPF3A', 'score': 11.37}, {'connected_gene': 'GAS6-AS1', 'score': 6.15}, {'connected_gene': 'TMEM255B', 'score': 4.75}, {'connected_gene': 'GAS6-AS2', 'score': 0.77}, {'connected_gene': 'LOC105370380', 'score': 0.26}]
chr13 GH13I112942 112942347 112944221 1.46 [{'connected_gene': 'MCF2L', 'score': 42.69}, {'connected_gene': 'TMEM255B', 'score': 5.9}, {'connected_gene': 'GC13P112922', 'score': 0.34}, {'connected_gene': 'ENSG00000267868', 'score': 0.34}]
chr13 GH13I113030 113030143 113032437 0.46 [{'connected_gene': 'MCF2L', 'score': 19.5}, {'connected_gene': 'MCF2L-AS1', 'score': 11.14}, {'connected_gene': 'F10', 'score': 10.71}, {'connected_gene': 'F10-AS1', 'score': 10.7}, {'connected_gene': 'KARSP2', 'score': 10.7}, {'connected_gene': 'PROZ', 'score': 10.11}, {'connected_gene': 'TMEM255B', 'score': 4.47}, {'connected_gene': 'ENSG00000269376', 'score': 0.34}, {'connected_gene': 'PIR52168', 'score': 0.26}]
chr13 GH13I113815 113815066 113823088 1.56 [{'connected_gene': 'LOC105370380', 'score': 550.77}, {'connected_gene': 'TMEM255B', 'score': 49.93}, {'connected_gene': 'CDC16', 'score': 13.66}, {'connected_gene': 'GAS6-AS1', 'score': 12.76}, {'connected_gene': 'UPF3A', 'score': 11.15}, {'connected_gene': 'ADPRHL1', 'score': 7.71}, {'connected_gene': 'GAS6', 'score': 0.25}]