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
ENST00000261531 [[78183941, 78184629], [78184709, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227533]] [[78184430, 78184629], [78184709, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227470]]
ENST00000554775 [[78183970, 78184629], [78184709, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78227456, 78227498]] [[78184430, 78184629], [78184709, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205167]]
ENST00000556428 [[78184133, 78184629], [78184709, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221441], [78227456, 78227550]] [[78221311, 78221441], [78227456, 78227470]]
ENST00000555761 [[78184295, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227499]] [[78184405, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227470]]
ENST00000553565 [[78197198, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203350]] None
ENST00000554324 [[78198881, 78198944], [78201289, 78201355], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227499]] [[78198881, 78198944], [78201289, 78201355], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227470]]
ENST00000557663 [[78205080, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227499]] None
NM_001318844 [[78183941, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227497]] [[78184405, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227470]]
NM_012245 [[78183941, 78184629], [78184709, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227497]] [[78184430, 78184629], [78184709, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227470]]
Promoter
Chrom Start End Description
chr14 78227476 78227513 CAGE_peak_1_at_SNW1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I077588 77588065 77595054 1.36 [{'connected_gene': 'SPTLC2', 'score': 22.2}, {'connected_gene': 'ADCK1', 'score': 20.42}, {'connected_gene': 'RPL21P10', 'score': 4.74}, {'connected_gene': 'SNW1', 'score': 3.45}, {'connected_gene': 'RN7SL587P', 'score': 0.26}]
chr14 GH14I077580 77580445 77583199 1.24 [{'connected_gene': 'SPTLC2', 'score': 27.14}, {'connected_gene': 'RPL21P10', 'score': 14.27}, {'connected_gene': 'ALKBH1', 'score': 12.8}, {'connected_gene': 'SNW1', 'score': 12.7}, {'connected_gene': 'VIPAS39', 'score': 12.33}, {'connected_gene': 'VASH1', 'score': 11.15}, {'connected_gene': 'ZMYND19P1', 'score': 11.12}, {'connected_gene': 'ENSG00000259081', 'score': 11.01}, {'connected_gene': 'RPL22P2', 'score': 10.64}, {'connected_gene': 'NGB', 'score': 9.83}, {'connected_gene': 'ANGEL1', 'score': 4.83}, {'connected_gene': 'RN7SL587P', 'score': 0.29}]
chr14 GH14I077565 77565001 77566600 1.05 [{'connected_gene': 'SPTLC2', 'score': 16.59}, {'connected_gene': 'POMT2', 'score': 9.96}, {'connected_gene': 'GSTZ1', 'score': 9.96}, {'connected_gene': 'SNW1', 'score': 2.46}, {'connected_gene': 'RN7SL587P', 'score': 0.37}]
chr14 GH14I077614 77614894 77617550 2.23 [{'connected_gene': 'SPTLC2', 'score': 561.1}, {'connected_gene': 'SNW1', 'score': 46.87}, {'connected_gene': 'VIPAS39', 'score': 34.59}, {'connected_gene': 'ALKBH1', 'score': 34.59}, {'connected_gene': 'RPL22P2', 'score': 34.22}, {'connected_gene': 'ADCK1', 'score': 19.91}, {'connected_gene': 'ZMYND19P1', 'score': 19.89}, {'connected_gene': 'RPL21P10', 'score': 10.42}, {'connected_gene': 'IRF2BPL', 'score': 9.91}, {'connected_gene': 'RN7SL587P', 'score': 0.2}]
chr14 GH14I077003 77003662 77010833 1.26 [{'connected_gene': 'CIPC', 'score': 15.64}, {'connected_gene': 'SNW1', 'score': 13.85}, {'connected_gene': 'IRF2BPL', 'score': 12.61}, {'connected_gene': 'ALKBH1', 'score': 12.34}, {'connected_gene': 'GPATCH2L', 'score': 11.91}, {'connected_gene': 'VIPAS39', 'score': 11.12}, {'connected_gene': 'RPL22P2', 'score': 10.27}, {'connected_gene': 'LINC01629', 'score': 5.31}, {'connected_gene': 'GC14P077023', 'score': 0.37}, {'connected_gene': 'GC14M076985', 'score': 0.34}]
chr14 GH14I077096 77096274 77100655 2.3 [{'connected_gene': 'CIPC', 'score': 556.91}, {'connected_gene': 'ENSG00000259164', 'score': 550.77}, {'connected_gene': 'GC14M077096', 'score': 550.77}, {'connected_gene': 'SNW1', 'score': 36.28}, {'connected_gene': 'VIPAS39', 'score': 35.65}, {'connected_gene': 'ZMYND19P1', 'score': 25.8}, {'connected_gene': 'RPL22P2', 'score': 25.54}, {'connected_gene': 'ALKBH1', 'score': 24.46}, {'connected_gene': 'IRF2BPL', 'score': 23.56}, {'connected_gene': 'GPATCH2L', 'score': 22.56}, {'connected_gene': 'RPL21P10', 'score': 11.91}, {'connected_gene': 'POMT2', 'score': 10.9}, {'connected_gene': 'LINC02288', 'score': 4.73}, {'connected_gene': 'PIR36428', 'score': 0.39}]
chr14 GH14I077021 77021582 77047176 3.06 [{'connected_gene': 'IRF2BPL', 'score': 577.43}, {'connected_gene': 'LOC105370579', 'score': 550.77}, {'connected_gene': 'SNW1', 'score': 32.59}, {'connected_gene': 'ALKBH1', 'score': 32.3}, {'connected_gene': 'RPL22P2', 'score': 31.25}, {'connected_gene': 'VIPAS39', 'score': 29.63}, {'connected_gene': 'POMT2', 'score': 29.33}, {'connected_gene': 'ZMYND19P1', 'score': 27.18}, {'connected_gene': 'GPATCH2L', 'score': 22.24}, {'connected_gene': 'RPL21P10', 'score': 20.39}, {'connected_gene': 'CIPC', 'score': 13.7}, {'connected_gene': 'ENSG00000259081', 'score': 11.08}, {'connected_gene': 'LINC02288', 'score': 8.25}, {'connected_gene': 'TMEM63C', 'score': 1.88}, {'connected_gene': 'VASH1', 'score': 1.72}, {'connected_gene': 'TMED8', 'score': 1.21}, {'connected_gene': 'LRRC74A', 'score': 1.11}, {'connected_gene': 'GC14P077024', 'score': 0.44}, {'connected_gene': 'ENSG00000273729', 'score': 0.44}, {'connected_gene': 'GC14P077023', 'score': 0.39}]
chr14 GH14I077301 77301832 77308334 1.39 [{'connected_gene': 'VIPAS39', 'score': 24.31}, {'connected_gene': 'IRF2BPL', 'score': 16.36}, {'connected_gene': 'GSTZ1', 'score': 15.6}, {'connected_gene': 'ALKBH1', 'score': 13.09}, {'connected_gene': 'NGB', 'score': 11.62}, {'connected_gene': 'MIR1260A', 'score': 11.22}, {'connected_gene': 'ZDHHC22', 'score': 10.98}, {'connected_gene': 'ENSG00000201384', 'score': 10.97}, {'connected_gene': 'SAMD15', 'score': 10.85}, {'connected_gene': 'TMED8', 'score': 10.85}, {'connected_gene': 'AHSA1', 'score': 10.53}, {'connected_gene': 'SNW1', 'score': 10.45}, {'connected_gene': 'RPL21P10', 'score': 10.32}, {'connected_gene': 'CIPC', 'score': 9.66}, {'connected_gene': 'POMT2', 'score': 6.49}, {'connected_gene': 'SPTLC2', 'score': 4.43}, {'connected_gene': 'PIR44060', 'score': 0.77}]
chr14 GH14I076767 76767379 76769592 1.23 [{'connected_gene': 'VIPAS39', 'score': 47.73}, {'connected_gene': 'SNW1', 'score': 37.99}, {'connected_gene': 'ALKBH1', 'score': 37.6}, {'connected_gene': 'ZMYND19P1', 'score': 36.1}, {'connected_gene': 'GPATCH2L', 'score': 33.25}, {'connected_gene': 'RPL22P2', 'score': 32.55}, {'connected_gene': 'IRF2BPL', 'score': 24.3}, {'connected_gene': 'RPL21P10', 'score': 20.19}, {'connected_gene': 'POMT2', 'score': 19.55}, {'connected_gene': 'ENSG00000259081', 'score': 16.72}, {'connected_gene': 'VASH1', 'score': 11.56}, {'connected_gene': 'IFT43', 'score': 10.29}, {'connected_gene': 'NGB', 'score': 9.8}, {'connected_gene': 'ENSG00000258610', 'score': 0.39}]
chr14 GH14I077157 77157961 77159105 1.18 [{'connected_gene': 'TMEM63C', 'score': 17.29}, {'connected_gene': 'POMT2', 'score': 13.28}, {'connected_gene': 'ENSG00000201384', 'score': 11.54}, {'connected_gene': 'NGB', 'score': 10.8}, {'connected_gene': 'NOXRED1', 'score': 10.08}, {'connected_gene': 'SNW1', 'score': 9.96}, {'connected_gene': 'ZDHHC22', 'score': 0.39}, {'connected_gene': 'FAM204DP', 'score': 0.37}, {'connected_gene': 'ENSG00000259164', 'score': 0.21}]
chr14 GH14I077799 77799518 77801050 2.04 [{'connected_gene': 'ADCK1', 'score': 556.76}, {'connected_gene': 'RPL21P10', 'score': 23.15}, {'connected_gene': 'C14orf178', 'score': 19.6}, {'connected_gene': 'ZMYND19P1', 'score': 12.9}, {'connected_gene': 'IRF2BPL', 'score': 11.12}, {'connected_gene': 'ALKBH1', 'score': 11.01}, {'connected_gene': 'SNW1', 'score': 9.92}, {'connected_gene': 'RPL22P2', 'score': 9.86}, {'connected_gene': 'ENSG00000199440', 'score': 0.34}, {'connected_gene': 'GC14M077822', 'score': 0.34}]
chr14 GH14I077663 77663253 77664152 1.01 [{'connected_gene': 'ADCK1', 'score': 37.68}, {'connected_gene': 'C14orf178', 'score': 13.44}, {'connected_gene': 'SLIRP', 'score': 8.57}, {'connected_gene': 'SNW1', 'score': 7.94}, {'connected_gene': 'RPL21P10', 'score': 5.46}, {'connected_gene': 'GC14P077671', 'score': 0.44}, {'connected_gene': 'COX6CP11', 'score': 0.39}]
chr14 GH14I077729 77729867 77731913 0.38 [{'connected_gene': 'ADCK1', 'score': 38.52}, {'connected_gene': 'C14orf178', 'score': 26.47}, {'connected_gene': 'SNW1', 'score': 11.72}, {'connected_gene': 'SLIRP', 'score': 11.32}, {'connected_gene': 'ALKBH1', 'score': 11.32}, {'connected_gene': 'RPL21P10', 'score': 6.58}]
chr14 GH14I077660 77660732 77661380 0.43 [{'connected_gene': 'ADCK1', 'score': 37.67}, {'connected_gene': 'C14orf178', 'score': 20.31}, {'connected_gene': 'SNW1', 'score': 5.84}, {'connected_gene': 'COX6CP11', 'score': 0.44}, {'connected_gene': 'GC14P077671', 'score': 0.39}]
chr14 GH14I077763 77763418 77763567 0.2 [{'connected_gene': 'ADCK1', 'score': 11.71}, {'connected_gene': 'C14orf178', 'score': 5.58}, {'connected_gene': 'SNW1', 'score': 0.77}]
chr14 GH14I077790 77790562 77791828 0.54 [{'connected_gene': 'RPL21P10', 'score': 16.91}, {'connected_gene': 'C14orf178', 'score': 13.66}, {'connected_gene': 'ADCK1', 'score': 0.44}, {'connected_gene': 'SNW1', 'score': 0.31}]
chr14 GH14I077795 77795522 77796982 0.85 [{'connected_gene': 'C14orf178', 'score': 17.58}, {'connected_gene': 'SLIRP', 'score': 6.5}, {'connected_gene': 'ADCK1', 'score': 5.15}, {'connected_gene': 'SNW1', 'score': 0.28}]
chr14 GH14I077768 77768601 77769000 0.2 [{'connected_gene': 'C14orf178', 'score': 21.15}, {'connected_gene': 'ADCK1', 'score': 13.07}, {'connected_gene': 'SNW1', 'score': 0.44}]
chr14 GH14I077759 77759690 77762187 2 [{'connected_gene': 'C14orf178', 'score': 571.48}, {'connected_gene': 'SNW1', 'score': 559.04}, {'connected_gene': 'RPL21P10', 'score': 17.0}, {'connected_gene': 'ADCK1', 'score': 11.71}, {'connected_gene': 'SLIRP', 'score': 0.23}]
chr14 GH14I078007 78007086 78007497 0.52 [{'connected_gene': 'SNW1', 'score': 2.71}, {'connected_gene': 'SPTLC2', 'score': 1.4}, {'connected_gene': 'NRXN3', 'score': 0.39}, {'connected_gene': 'LOC105370581', 'score': 0.26}, {'connected_gene': 'GC14M077970', 'score': 0.1}]
chr14 GH14I077737 77737860 77739504 0.38 [{'connected_gene': 'SNW1', 'score': 0.34}, {'connected_gene': 'C14orf178', 'score': 0.34}, {'connected_gene': 'SLIRP', 'score': 0.29}]
chr14 GH14I077728 77728501 77728737 0.34 [{'connected_gene': 'SNW1', 'score': 11.72}, {'connected_gene': 'C14orf178', 'score': 11.72}, {'connected_gene': 'SLIRP', 'score': 0.34}]
chr14 GH14I076949 76949601 76963502 2.35 [{'connected_gene': 'LINC01629', 'score': 69.23}, {'connected_gene': 'IRF2BPL', 'score': 24.74}, {'connected_gene': 'SNW1', 'score': 22.81}, {'connected_gene': 'ALKBH1', 'score': 15.29}, {'connected_gene': 'ZMYND19P1', 'score': 13.39}, {'connected_gene': 'RPL22P2', 'score': 13.22}, {'connected_gene': 'VIPAS39', 'score': 13.22}, {'connected_gene': 'VASH1', 'score': 11.45}, {'connected_gene': 'ENSG00000243225', 'score': 11.42}, {'connected_gene': 'LINC02288', 'score': 11.11}, {'connected_gene': 'ENSG00000259081', 'score': 11.08}, {'connected_gene': 'RPL21P10', 'score': 10.47}, {'connected_gene': 'GPATCH2L', 'score': 10.22}, {'connected_gene': 'ANGEL1', 'score': 4.47}, {'connected_gene': 'LRRC74A', 'score': 3.89}, {'connected_gene': 'ENSG00000259058', 'score': 0.29}]
chr14 GH14I076936 76936261 76942850 1.32 [{'connected_gene': 'ENSG00000243225', 'score': 14.38}, {'connected_gene': 'IRF2BPL', 'score': 12.4}, {'connected_gene': 'LINC01629', 'score': 11.89}, {'connected_gene': 'SNW1', 'score': 7.86}, {'connected_gene': 'ENSG00000259058', 'score': 0.39}]