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
ENST00000261700 [[52456192, 52456418], [52458034, 52458159], [52460440, 52460540], [52465211, 52465298], [52466425, 52466514], [52468515, 52468584], [52470911, 52470960], [52471079, 52471414]] [[52456357, 52456418], [52458034, 52458159], [52460440, 52460540], [52465211, 52465298], [52466425, 52466514], [52468515, 52468584], [52470911, 52470960], [52471079, 52471234]]
ENST00000557553 [[52456231, 52456418], [52458034, 52458159], [52465211, 52465298], [52466425, 52466514], [52468515, 52468584]] [[52456357, 52456418], [52458034, 52458159], [52465211, 52465232]]
ENST00000556760 [[52456332, 52456418], [52458034, 52458159], [52460440, 52460540], [52465211, 52465298], [52466425, 52466514], [52468515, 52468584], [52470957, 52470960], [52471079, 52471371]] [[52456357, 52456418], [52458034, 52458159], [52460440, 52460540], [52465211, 52465298], [52466425, 52466514], [52468515, 52468584], [52470957, 52470960], [52471079, 52471127]]
ENST00000553362 [[52460443, 52460540], [52465211, 52465298], [52466425, 52466514], [52468515, 52468584], [52471079, 52471420]] [[52460443, 52460540], [52465211, 52465298], [52466425, 52466514], [52468515, 52468584], [52471079, 52471127]]
ENST00000553707 [[52464642, 52465298], [52466425, 52466591]] None
ENST00000555319 [[52466055, 52466514], [52468515, 52468634]] None
ENST00000553479 [[52470729, 52470960], [52471079, 52471410]] None
Promoter
Chrom Start End Description
chr14 52456226 52456320 CAGE_peak_1_at_C14orf166_5end
chr14 52456327 52456344 CAGE_peak_2_at_C14orf166_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I052922 52922583 52925235 1.07 [{'connected_gene': 'STYX', 'score': 5.44}, {'connected_gene': 'RTRAF', 'score': 5.01}, {'connected_gene': 'ENSG00000258985', 'score': 4.65}, {'connected_gene': 'FERMT2', 'score': 0.31}, {'connected_gene': 'GC14P052872', 'score': 0.23}, {'connected_gene': 'LOC105370500', 'score': 0.12}]
chr14 GH14I052551 52551039 52554498 2.31 [{'connected_gene': 'TXNDC16', 'score': 565.8}, {'connected_gene': 'GPR137C', 'score': 556.97}, {'connected_gene': 'GC14P052555', 'score': 550.77}, {'connected_gene': 'GC14P052554', 'score': 550.77}, {'connected_gene': 'RTRAF', 'score': 11.62}, {'connected_gene': 'ERO1A', 'score': 7.22}, {'connected_gene': 'PTGDR', 'score': 1.99}]
chr14 GH14I052311 52311129 52319794 2.38 [{'connected_gene': 'PTGER2', 'score': 572.63}, {'connected_gene': 'GNG2', 'score': 8.35}, {'connected_gene': 'TXNDC16', 'score': 4.94}, {'connected_gene': 'RTRAF', 'score': 4.67}, {'connected_gene': 'GC14P052338', 'score': 0.34}, {'connected_gene': 'GC14M052143', 'score': 0.12}]
chr14 GH14I052002 52002354 52004580 0.66 [{'connected_gene': 'PTGDR', 'score': 10.8}, {'connected_gene': 'RNU6-301P', 'score': 9.33}, {'connected_gene': 'NID2', 'score': 6.61}, {'connected_gene': 'GC14M051998', 'score': 0.77}, {'connected_gene': 'RTRAF', 'score': 0.39}]
chr14 GH14I051929 51929666 51931809 0.65 [{'connected_gene': 'GNG2', 'score': 15.87}, {'connected_gene': 'PTGDR', 'score': 10.94}, {'connected_gene': 'RTRAF', 'score': 10.01}, {'connected_gene': 'LOC102723604', 'score': 6.59}, {'connected_gene': 'PTGER2', 'score': 1.21}, {'connected_gene': 'ENSG00000259007', 'score': 0.28}]
chr14 GH14I051865 51865433 51870178 1.38 [{'connected_gene': 'GNG2', 'score': 25.17}, {'connected_gene': 'RTRAF', 'score': 11.37}, {'connected_gene': 'PTGER2', 'score': 11.15}, {'connected_gene': 'PTGDR', 'score': 8.42}, {'connected_gene': 'LOC102723604', 'score': 0.23}]
chr14 GH14I051871 51871756 51874210 1.53 [{'connected_gene': 'GNG2', 'score': 26.03}, {'connected_gene': 'RTRAF', 'score': 11.17}, {'connected_gene': 'PTGER2', 'score': 8.88}, {'connected_gene': 'PTGDR', 'score': 2.58}, {'connected_gene': 'LOC102723604', 'score': 0.25}]
chr14 GH14I051870 51870753 51871197 0.62 [{'connected_gene': 'GNG2', 'score': 23.21}, {'connected_gene': 'RTRAF', 'score': 11.37}, {'connected_gene': 'PTGER2', 'score': 9.66}, {'connected_gene': 'LOC102723604', 'score': 0.25}]
chr14 GH14I051859 51859551 51865400 2.48 [{'connected_gene': 'GNG2', 'score': 592.45}, {'connected_gene': 'RTRAF', 'score': 11.37}, {'connected_gene': 'PTGER2', 'score': 5.63}, {'connected_gene': 'LOC102723604', 'score': 0.22}]
chr14 GH14I051884 51883743 51885218 1.44 [{'connected_gene': 'GNG2', 'score': 24.13}, {'connected_gene': 'RTRAF', 'score': 11.53}, {'connected_gene': 'PTGER2', 'score': 2.47}, {'connected_gene': 'LOC102723604', 'score': 0.29}]
chr14 GH14I051843 51843965 51849697 1.99 [{'connected_gene': 'GNG2', 'score': 22.61}, {'connected_gene': 'RTRAF', 'score': 12.05}, {'connected_gene': 'PTGDR', 'score': 7.91}, {'connected_gene': 'PTGER2', 'score': 5.63}, {'connected_gene': 'LOC102723604', 'score': 0.19}]
chr14 GH14I051883 51883080 51883518 0.48 [{'connected_gene': 'GNG2', 'score': 19.09}, {'connected_gene': 'RTRAF', 'score': 11.53}, {'connected_gene': 'PTGDR', 'score': 1.14}, {'connected_gene': 'LOC102723604', 'score': 0.28}]
chr14 GH14I051905 51905077 51906548 1.42 [{'connected_gene': 'GNG2', 'score': 27.73}, {'connected_gene': 'RTRAF', 'score': 11.05}, {'connected_gene': 'RNU6-301P', 'score': 9.07}, {'connected_gene': 'PTGER2', 'score': 6.76}, {'connected_gene': 'LOC102723604', 'score': 0.39}]
chr14 GH14I051782 51782539 51782706 0.36 [{'connected_gene': 'GNG2', 'score': 16.5}, {'connected_gene': 'RTRAF', 'score': 10.94}, {'connected_gene': 'RNU6-301P', 'score': 9.8}, {'connected_gene': 'RNU6-1291P', 'score': 9.62}, {'connected_gene': 'ENSG00000259157', 'score': 0.77}, {'connected_gene': 'OR7E159P', 'score': 0.39}, {'connected_gene': 'ENSG00000258535', 'score': 0.37}, {'connected_gene': 'LOC101927598', 'score': 0.37}]
chr14 GH14I051783 51783748 51784206 0.61 [{'connected_gene': 'GNG2', 'score': 16.43}, {'connected_gene': 'RTRAF', 'score': 10.94}, {'connected_gene': 'RNU6-301P', 'score': 9.8}, {'connected_gene': 'RNU6-1291P', 'score': 9.62}, {'connected_gene': 'ENSG00000259157', 'score': 0.77}, {'connected_gene': 'OR7E159P', 'score': 0.39}, {'connected_gene': 'ENSG00000258535', 'score': 0.37}, {'connected_gene': 'LOC101927598', 'score': 0.34}]
chr14 GH14I051874 51874670 51875658 0.2 [{'connected_gene': 'GNG2', 'score': 11.18}, {'connected_gene': 'RTRAF', 'score': 10.82}, {'connected_gene': 'LOC102723604', 'score': 0.26}]
chr14 GH14I051878 51878526 51880219 0.77 [{'connected_gene': 'GNG2', 'score': 10.45}, {'connected_gene': 'RTRAF', 'score': 10.0}, {'connected_gene': 'LOC102723604', 'score': 0.28}]
chr14 GH14I052015 52015601 52015800 0.63 [{'connected_gene': 'RTRAF', 'score': 11.97}, {'connected_gene': 'PTGDR', 'score': 10.87}, {'connected_gene': 'GNG2', 'score': 9.92}, {'connected_gene': 'GC14M051998', 'score': 0.37}, {'connected_gene': 'NID2', 'score': 0.23}]
chr14 GH14I051942 51942741 51944565 0.2 [{'connected_gene': 'RTRAF', 'score': 10.72}, {'connected_gene': 'GNG2', 'score': 9.75}, {'connected_gene': 'PYGL', 'score': 4.23}, {'connected_gene': 'LOC102723604', 'score': 0.31}, {'connected_gene': 'ENSG00000259007', 'score': 0.31}]
chr14 GH14I051907 51907121 51908766 0.2 [{'connected_gene': 'RTRAF', 'score': 10.93}, {'connected_gene': 'GNG2', 'score': 10.63}, {'connected_gene': 'RNU6-301P', 'score': 9.07}, {'connected_gene': 'LOC102723604', 'score': 0.39}]
chr14 GH14I051911 51911606 51913187 0.31 [{'connected_gene': 'RTRAF', 'score': 10.94}, {'connected_gene': 'GNG2', 'score': 10.63}, {'connected_gene': 'RNU6-301P', 'score': 9.07}, {'connected_gene': 'LOC102723604', 'score': 0.44}]
chr14 GH14I051988 51988455 51990775 2.21 [{'connected_gene': 'RTRAF', 'score': 550.77}, {'connected_gene': 'GNG2', 'score': 10.23}, {'connected_gene': 'LOC105370500', 'score': 9.76}, {'connected_gene': 'GC14M051998', 'score': 0.39}]
chr14 GH14I051939 51939343 51940377 0.76 [{'connected_gene': 'RTRAF', 'score': 10.65}, {'connected_gene': 'GNG2', 'score': 9.94}, {'connected_gene': 'LOC102723604', 'score': 0.34}, {'connected_gene': 'ENSG00000259007', 'score': 0.31}]
chr14 GH14I051880 51880488 51881698 0.94 [{'connected_gene': 'RTRAF', 'score': 11.53}, {'connected_gene': 'GNG2', 'score': 10.8}, {'connected_gene': 'LOC102723604', 'score': 0.28}]
chr14 GH14I051837 51837401 51837601 0.52 [{'connected_gene': 'RTRAF', 'score': 10.59}, {'connected_gene': 'GNG2', 'score': 0.39}, {'connected_gene': 'LOC102723604', 'score': 0.18}]
chr14 GH14I051914 51914302 51916318 0.38 [{'connected_gene': 'RTRAF', 'score': 10.49}, {'connected_gene': 'GNG2', 'score': 10.05}, {'connected_gene': 'LOC102723604', 'score': 0.77}]
chr14 GH14I051838 51837805 51837957 0.51 [{'connected_gene': 'RTRAF', 'score': 10.59}, {'connected_gene': 'GNG2', 'score': 0.39}, {'connected_gene': 'LOC102723604', 'score': 0.18}]
chr14 GH14I051885 51885421 51887817 0.31 [{'connected_gene': 'RTRAF', 'score': 11.49}, {'connected_gene': 'GNG2', 'score': 10.73}, {'connected_gene': 'LOC102723604', 'score': 0.29}]
chr14 GH14I051900 51900303 51901729 0.2 [{'connected_gene': 'RTRAF', 'score': 11.56}, {'connected_gene': 'GNG2', 'score': 10.66}, {'connected_gene': 'LOC102723604', 'score': 0.37}]
chr14 GH14I051888 51888278 51891427 0.2 [{'connected_gene': 'RTRAF', 'score': 10.96}, {'connected_gene': 'GNG2', 'score': 10.73}, {'connected_gene': 'LOC102723604', 'score': 0.31}]
chr14 GH14I052058 52058216 52062331 0.31 [{'connected_gene': 'RTRAF', 'score': 10.26}, {'connected_gene': 'NID2', 'score': 5.04}, {'connected_gene': 'GNPNAT1', 'score': 4.44}, {'connected_gene': 'GC14M051998', 'score': 0.21}]
chr14 GH14I052010 52010037 52012008 0.38 [{'connected_gene': 'RTRAF', 'score': 11.56}, {'connected_gene': 'NID2', 'score': 7.67}, {'connected_gene': 'PTGDR', 'score': 5.11}, {'connected_gene': 'GC14M051998', 'score': 0.39}]
chr14 GH14I052018 52018067 52027468 1.17 [{'connected_gene': 'RTRAF', 'score': 11.95}, {'connected_gene': 'NID2', 'score': 10.05}, {'connected_gene': 'GNG2', 'score': 9.91}, {'connected_gene': 'GC14M051998', 'score': 0.34}]
chr14 GH14I052012 52012101 52012722 0.52 [{'connected_gene': 'RTRAF', 'score': 11.56}, {'connected_gene': 'NID2', 'score': 5.14}, {'connected_gene': 'GC14M051998', 'score': 0.39}]
chr14 GH14I052044 52044547 52046145 0.89 [{'connected_gene': 'RTRAF', 'score': 10.29}, {'connected_gene': 'NID2', 'score': 8.31}, {'connected_gene': 'GC14M051998', 'score': 0.25}]
chr14 GH14I052013 52012763 52012952 0.8 [{'connected_gene': 'RTRAF', 'score': 11.56}, {'connected_gene': 'GC14M051998', 'score': 0.39}, {'connected_gene': 'NID2', 'score': 0.22}]
chr14 GH14I052902 52902601 52904239 0.89 [{'connected_gene': 'RTRAF', 'score': 5.06}, {'connected_gene': 'GC14P052872', 'score': 0.29}, {'connected_gene': 'FERMT2', 'score': 0.25}, {'connected_gene': 'LOC105370500', 'score': 0.14}]
chr14 GH14I051895 51895043 51896037 0.4 [{'connected_gene': 'RTRAF', 'score': 11.55}, {'connected_gene': 'LOC102723604', 'score': 0.34}, {'connected_gene': 'GNG2', 'score': 0.2}]
chr14 GH14I051962 51962638 51964253 0.4 [{'connected_gene': 'RTRAF', 'score': 12.33}, {'connected_gene': 'ENSG00000259007', 'score': 0.44}, {'connected_gene': 'LOC102723604', 'score': 0.26}, {'connected_gene': 'GNG2', 'score': 0.12}]
chr14 GH14I051897 51897963 51898112 0.4 [{'connected_gene': 'RTRAF', 'score': 11.55}, {'connected_gene': 'LOC102723604', 'score': 0.34}, {'connected_gene': 'GNG2', 'score': 0.19}]
chr14 GH14I051898 51898115 51899663 0.2 [{'connected_gene': 'RTRAF', 'score': 11.55}, {'connected_gene': 'LOC102723604', 'score': 0.37}, {'connected_gene': 'GNG2', 'score': 0.19}]
chr14 GH14I052912 52912744 52913996 0.43 [{'connected_gene': 'ERO1A', 'score': 9.89}, {'connected_gene': 'STYX', 'score': 5.94}, {'connected_gene': 'RTRAF', 'score': 4.57}, {'connected_gene': 'FERMT2', 'score': 0.28}, {'connected_gene': 'GC14P052872', 'score': 0.26}, {'connected_gene': 'LOC105370500', 'score': 0.13}]
chr14 GH14I052909 52909995 52911470 0.2 [{'connected_gene': 'ERO1A', 'score': 9.89}, {'connected_gene': 'RTRAF', 'score': 4.39}, {'connected_gene': 'GC14P052872', 'score': 0.28}, {'connected_gene': 'FERMT2', 'score': 0.26}, {'connected_gene': 'LOC105370500', 'score': 0.13}]
chr14 GH14I051916 51916544 51917712 0.4 [{'connected_gene': 'LOC102723604', 'score': 559.02}, {'connected_gene': 'GNG2', 'score': 10.04}, {'connected_gene': 'RTRAF', 'score': 10.03}]
chr14 GH14I052000 52000943 52001012 0.2 [{'connected_gene': 'GC14M051998', 'score': 550.77}, {'connected_gene': 'PTGDR', 'score': 10.79}, {'connected_gene': 'RNU6-301P', 'score': 9.33}, {'connected_gene': 'RTRAF', 'score': 0.39}, {'connected_gene': 'NID2', 'score': 0.2}]
chr14 GH14I051789 51789300 51789375 0.22 [{'connected_gene': 'ENSG00000259157', 'score': 550.77}, {'connected_gene': 'GNG2', 'score': 14.03}, {'connected_gene': 'RTRAF', 'score': 10.49}, {'connected_gene': 'RNU6-301P', 'score': 9.96}, {'connected_gene': 'RNU6-1291P', 'score': 9.42}, {'connected_gene': 'ENSG00000258535', 'score': 0.34}, {'connected_gene': 'LOC101927598', 'score': 0.31}]
chr14 GH14I051996 51996243 51996392 0.54 [{'connected_gene': 'GC14M051998', 'score': 0.77}, {'connected_gene': 'RTRAF', 'score': 0.44}]

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