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
ENST00000338855 [[26517051, 26517331], [26517777, 26517921], [26520277, 26520379], [26524176, 26524274], [26524447, 26524568], [26524776, 26524910], [26526374, 26526549], [26527320, 26527532], [26527844, 26528094]] [[26517118, 26517331], [26517777, 26517921], [26520277, 26520379], [26524176, 26524274], [26524447, 26524568], [26524776, 26524910], [26526374, 26526549], [26527320, 26527532], [26527844, 26528094]]
ENST00000456354 [[26517051, 26517331], [26517777, 26517921], [26520277, 26520379], [26524176, 26524274], [26524447, 26524568], [26524776, 26524910], [26526374, 26526549], [26527320, 26527532], [26527844, 26528010], [26528979, 26529459]] [[26517118, 26517331], [26517777, 26517921], [26520277, 26520379], [26524176, 26524274], [26524447, 26524568], [26524776, 26524910], [26526374, 26526549], [26527320, 26527532], [26527844, 26528010], [26528979, 26529033]]
ENST00000518899 [[26517118, 26517331], [26517777, 26517921], [26520277, 26520379], [26524176, 26524274], [26524447, 26524568], [26524824, 26524910], [26526374, 26526549], [26527320, 26527566], [26527844, 26528010], [26528979, 26529459]] [[26517118, 26517331], [26517777, 26517921], [26520277, 26520379], [26524176, 26524274], [26524447, 26524568], [26524824, 26524910], [26526374, 26526549], [26527320, 26527536]]
NM_198137 [[26517118, 26517331], [26517777, 26517921], [26520277, 26520379], [26524176, 26524274], [26524447, 26524568], [26524776, 26524910], [26526374, 26526549], [26527320, 26527532], [26527844, 26528010], [26528979, 26529033]] [[26517118, 26517331], [26517777, 26517921], [26520277, 26520379], [26524176, 26524274], [26524447, 26524568], [26524776, 26524910], [26526374, 26526549], [26527320, 26527532], [26527844, 26528010], [26528979, 26529033]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I026618 26618391 26622400 1.9 [{'connected_gene': 'ARID1A', 'score': 160.87}, {'connected_gene': 'HMGN2', 'score': 112.32}, {'connected_gene': 'ACTG1P20', 'score': 94.94}, {'connected_gene': 'GPN2', 'score': 64.9}, {'connected_gene': 'ZNF593', 'score': 40.06}, {'connected_gene': 'GPATCH3', 'score': 31.53}, {'connected_gene': 'AHDC1', 'score': 30.24}, {'connected_gene': 'RPL17P9', 'score': 29.98}, {'connected_gene': 'LOC101928324', 'score': 29.95}, {'connected_gene': 'NPM1P39', 'score': 28.09}, {'connected_gene': 'RPS6KA1', 'score': 21.2}, {'connected_gene': 'SELENON', 'score': 21.15}, {'connected_gene': 'WASF2', 'score': 20.32}, {'connected_gene': 'PIGV', 'score': 14.27}, {'connected_gene': 'TMEM222', 'score': 13.4}, {'connected_gene': 'MAP3K6', 'score': 12.23}, {'connected_gene': 'SH3BGRL3', 'score': 11.97}, {'connected_gene': 'SFN', 'score': 10.86}, {'connected_gene': 'MIR1976', 'score': 10.46}, {'connected_gene': 'NUDC', 'score': 10.05}, {'connected_gene': 'UBXN11', 'score': 9.6}, {'connected_gene': 'ZDHHC18', 'score': 3.73}, {'connected_gene': 'CATSPER4', 'score': 1.58}, {'connected_gene': 'ENSG00000229247', 'score': 0.34}, {'connected_gene': 'GC01M026595', 'score': 0.31}, {'connected_gene': 'ENSG00000252802', 'score': 0.31}]
chr1 GH01I026348 26348810 26361055 2.18 [{'connected_gene': 'CRYBG2', 'score': 564.12}, {'connected_gene': 'CD52', 'score': 20.75}, {'connected_gene': 'UBXN11', 'score': 19.1}, {'connected_gene': 'CEP85', 'score': 16.9}, {'connected_gene': 'CNKSR1', 'score': 14.27}, {'connected_gene': 'LIN28A', 'score': 11.33}, {'connected_gene': 'DHDDS', 'score': 10.84}, {'connected_gene': 'SLC30A2', 'score': 10.06}, {'connected_gene': 'TRIM63', 'score': 10.03}, {'connected_gene': 'EXTL1', 'score': 9.16}, {'connected_gene': 'FAM110D', 'score': 7.57}, {'connected_gene': 'ZNF683', 'score': 7.44}, {'connected_gene': 'CATSPER4', 'score': 7.11}, {'connected_gene': 'PDIK1L', 'score': 5.57}, {'connected_gene': 'GC01M026348', 'score': 0.44}]
chr1 GH01I026190 26190325 26190681 1.15 [{'connected_gene': 'CATSPER4', 'score': 550.77}, {'connected_gene': 'CNKSR1', 'score': 15.47}]
chr1 GH01I026176 26176629 26179109 1.8 [{'connected_gene': 'CNKSR1', 'score': 568.77}, {'connected_gene': 'TRIM63', 'score': 13.01}, {'connected_gene': 'CATSPER4', 'score': 0.39}]
chr1 GH01I026200 26200355 26202995 1.42 [{'connected_gene': 'CNKSR1', 'score': 42.13}, {'connected_gene': 'ARID1A', 'score': 35.93}, {'connected_gene': 'HMGN2', 'score': 34.05}, {'connected_gene': 'SYF2', 'score': 28.65}, {'connected_gene': 'ENSG00000261349', 'score': 24.18}, {'connected_gene': 'TRIM63', 'score': 12.64}, {'connected_gene': 'RPL17P9', 'score': 10.74}, {'connected_gene': 'RSRP1', 'score': 10.44}, {'connected_gene': 'GPN2', 'score': 10.2}, {'connected_gene': 'LOC101928324', 'score': 9.76}, {'connected_gene': 'FAM110D', 'score': 8.89}, {'connected_gene': 'ZNF593', 'score': 8.33}, {'connected_gene': 'CD52', 'score': 3.29}, {'connected_gene': 'MTFR1L', 'score': 2.08}, {'connected_gene': 'PDIK1L', 'score': 1.67}, {'connected_gene': 'LOC101928303', 'score': 0.44}, {'connected_gene': 'CATSPER4', 'score': 0.39}]
chr1 GH01I026180 26180207 26180266 0.73 [{'connected_gene': 'CNKSR1', 'score': 557.57}, {'connected_gene': 'CATSPER4', 'score': 0.39}]
chr1 GH01I026181 26181344 26182393 0.7 [{'connected_gene': 'CNKSR1', 'score': 558.87}, {'connected_gene': 'CATSPER4', 'score': 0.44}]

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