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
ENST00000394547 [[63991270, 63991439], [63991571, 63991682], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63993052], [63993521, 63993622]] [[63991347, 63991439], [63991571, 63991682], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63992980]]
ENST00000541278 [[63991271, 63991439], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63993052], [63993257, 63993341], [63993521, 63993726]] [[63991347, 63991439], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63993052], [63993257, 63993332]]
ENST00000394546 [[63991271, 63991439], [63991571, 63991682], [63991756, 63991813], [63992014, 63992189], [63992266, 63992442], [63992970, 63993052], [63993257, 63993341], [63993521, 63993726]] [[63991347, 63991439], [63991571, 63991682], [63991756, 63991813], [63992014, 63992189], [63992266, 63992442], [63992970, 63993052], [63993257, 63993332]]
ENST00000546133 [[63991301, 63991439], [63991571, 63991634], [63991756, 63991813], [63992014, 63992138]] [[63991347, 63991439], [63991571, 63991634], [63991756, 63991813], [63992014, 63992138]]
ENST00000536158 [[63991301, 63991439], [63991571, 63991682], [63991756, 63991963], [63992125, 63992189], [63992272, 63992296]] None
ENST00000539436 [[63991301, 63991439], [63991571, 63991682], [63991756, 63992189], [63992272, 63993052], [63993257, 63993341], [63993521, 63993701]] None
ENST00000544286 [[63991304, 63991682], [63991756, 63991813], [63992014, 63992106]] [[63991485, 63991682], [63991756, 63991813], [63992014, 63992106]]
ENST00000537907 [[63991304, 63991439], [63991571, 63991634], [63991756, 63991963], [63992970, 63993052], [63993521, 63993636]] None
ENST00000541928 [[63991313, 63991439], [63991571, 63991813], [63992014, 63992141]] None
ENST00000317459 [[63991316, 63991439], [63991571, 63991682], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63993052], [63993257, 63993341], [63993521, 63993681]] [[63991347, 63991439], [63991571, 63991682], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63993052], [63993257, 63993332]]
ENST00000546089 [[63991324, 63991439], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63993052], [63993257, 63993342]] [[63991347, 63991439], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63992980]]
ENST00000539595 [[63991327, 63991439], [63991571, 63991682], [63991756, 63992189], [63992272, 63993052], [63993257, 63993630]] None
ENST00000536234 [[63991348, 63992189], [63992272, 63993052], [63993257, 63993341], [63993662, 63993705]] None
ENST00000545812 [[63991674, 63991682], [63991756, 63991813], [63992014, 63992189], [63992266, 63992442], [63992970, 63993052], [63993257, 63993341], [63993521, 63993620]] [[63991674, 63991682], [63991756, 63991813], [63992014, 63992189], [63992266, 63992442], [63992970, 63993052], [63993257, 63993332]]
ENST00000542040 [[63992230, 63993052], [63993521, 63993613]] None
ENST00000540472 [[63992272, 63992442], [63993521, 63993706]] None
NM_001160393 [[63991270, 63991439], [63991571, 63991685], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63993052], [63993257, 63993341]] [[63991347, 63991439], [63991571, 63991685], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63993052], [63993257, 63993332]]
NM_001160389 [[63991270, 63991439], [63991571, 63991682], [63991756, 63991813], [63992014, 63992189], [63992266, 63992442], [63992970, 63993052], [63993257, 63993341], [63993521, 63993726]] [[63991347, 63991439], [63991571, 63991682], [63991756, 63991813], [63992014, 63992189], [63992266, 63992442], [63992970, 63993052], [63993257, 63993332]]
NM_001033678 [[63991270, 63991439], [63991571, 63991682], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63993052], [63993257, 63993341], [63993521, 63993726]] [[63991347, 63991439], [63991571, 63991682], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63993052], [63993257, 63993332]]
NM_001160392 [[63991270, 63991439], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63993052], [63993257, 63993341], [63993521, 63993726]] [[63991347, 63991439], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63993052], [63993257, 63993332]]
NM_031472 [[63991270, 63991439], [63991571, 63991682], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63993052], [63993521, 63993726]] [[63991347, 63991439], [63991571, 63991682], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63992980]]
NM_001330298 [[63991270, 63991439], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63993052], [63993521, 63993726]] [[63991347, 63991439], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63992980]]
NM_001160390 [[63991270, 63991439], [63991571, 63991682], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63993052], [63993257, 63993341], [63993533, 63993726]] [[63991347, 63991439], [63991571, 63991682], [63991756, 63991813], [63992014, 63992189], [63992272, 63992442], [63992970, 63993052], [63993257, 63993332]]
Promoter
Chrom Start End Description
chr11 63993601 63993689 CAGE_peak_1_at_TRPT1_5end
chr11 63993690 63993701 CAGE_peak_2_at_TRPT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I064354 64354689 64361259 2.72 [{'connected_gene': 'RPS6KA4', 'score': 559.68}, {'connected_gene': 'LOC102723878', 'score': 20.26}, {'connected_gene': 'PLCB3', 'score': 13.55}, {'connected_gene': 'ENSG00000231680', 'score': 6.78}, {'connected_gene': 'TRPT1', 'score': 4.82}, {'connected_gene': 'MARK2', 'score': 4.13}, {'connected_gene': 'PPP1R14B', 'score': 3.69}, {'connected_gene': 'ESRRA', 'score': 3.36}, {'connected_gene': 'PRDX5', 'score': 2.81}, {'connected_gene': 'TRMT112', 'score': 2.76}, {'connected_gene': 'BAD', 'score': 2.56}, {'connected_gene': 'NUDT22', 'score': 2.25}, {'connected_gene': 'CDC42BPG', 'score': 1.9}, {'connected_gene': 'FKBP2', 'score': 1.29}, {'connected_gene': 'GC11M064349', 'score': 0.77}, {'connected_gene': 'CCDC88B', 'score': 0.37}]
chr11 GH11I064223 64223380 64223847 0.46 [{'connected_gene': 'TRPT1', 'score': 23.33}, {'connected_gene': 'ENSG00000256116', 'score': 5.78}, {'connected_gene': 'NUDT22', 'score': 0.77}, {'connected_gene': 'FERMT3', 'score': 0.37}]
chr11 GH11I064224 64224312 64227866 2.01 [{'connected_gene': 'TRPT1', 'score': 584.16}, {'connected_gene': 'NUDT22', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 29.75}, {'connected_gene': 'TRMT112', 'score': 19.52}, {'connected_gene': 'ZFPL1', 'score': 13.24}, {'connected_gene': 'SYVN1', 'score': 12.91}, {'connected_gene': 'PLCB3', 'score': 11.39}, {'connected_gene': 'FAU', 'score': 11.38}, {'connected_gene': 'MEN1', 'score': 11.38}, {'connected_gene': 'ATG2A', 'score': 10.86}, {'connected_gene': 'NAALADL1', 'score': 9.93}, {'connected_gene': 'ENSG00000256116', 'score': 5.82}]
chr11 GH11I064108 64108150 64110350 0.38 [{'connected_gene': 'TRPT1', 'score': 23.0}, {'connected_gene': 'VEGFB', 'score': 10.48}, {'connected_gene': 'CCDC88B', 'score': 8.43}, {'connected_gene': 'PIR46997', 'score': 0.44}, {'connected_gene': 'ENSG00000256481', 'score': 0.31}, {'connected_gene': 'MACROD1', 'score': 0.22}, {'connected_gene': 'FLRT1', 'score': 0.19}]
chr11 GH11I064104 64104692 64106918 0.38 [{'connected_gene': 'TRPT1', 'score': 21.76}, {'connected_gene': 'CCDC88B', 'score': 4.74}, {'connected_gene': 'ENSG00000256116', 'score': 4.72}, {'connected_gene': 'PIR46997', 'score': 0.39}, {'connected_gene': 'ENSG00000256481', 'score': 0.34}, {'connected_gene': 'MACROD1', 'score': 0.21}, {'connected_gene': 'FLRT1', 'score': 0.2}]
chr11 GH11I064131 64131869 64132390 0.79 [{'connected_gene': 'TRPT1', 'score': 16.87}, {'connected_gene': 'FLRT1', 'score': 11.73}, {'connected_gene': 'MACROD1', 'score': 10.91}, {'connected_gene': 'ENSG00000256481', 'score': 10.89}, {'connected_gene': 'ENSG00000256341', 'score': 0.39}, {'connected_gene': 'GC11M064153', 'score': 0.37}, {'connected_gene': 'PIR54353', 'score': 0.37}]
chr11 GH11I064204 64204109 64205258 0.93 [{'connected_gene': 'FERMT3', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 27.84}, {'connected_gene': 'NUDT22', 'score': 12.24}, {'connected_gene': 'DNAJC4', 'score': 12.21}, {'connected_gene': 'ENSG00000257086', 'score': 11.67}, {'connected_gene': 'PLCB3', 'score': 11.66}, {'connected_gene': 'MACROD1', 'score': 11.44}, {'connected_gene': 'GPR137', 'score': 11.34}, {'connected_gene': 'BAD', 'score': 11.31}, {'connected_gene': 'GC11M064182', 'score': 0.37}, {'connected_gene': 'STIP1', 'score': 0.37}]
chr11 GH11I064205 64205396 64209794 2.19 [{'connected_gene': 'FERMT3', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 25.79}, {'connected_gene': 'ZFPL1', 'score': 25.16}, {'connected_gene': 'PLCB3', 'score': 22.46}, {'connected_gene': 'SF1', 'score': 21.61}, {'connected_gene': 'TRMT112', 'score': 12.31}, {'connected_gene': 'ENSG00000257086', 'score': 11.65}, {'connected_gene': 'GPR137', 'score': 11.57}, {'connected_gene': 'BAD', 'score': 11.55}, {'connected_gene': 'KCNK4-TEX40', 'score': 11.54}, {'connected_gene': 'KCNK4', 'score': 11.54}, {'connected_gene': 'ENSG00000207024', 'score': 11.53}, {'connected_gene': 'CATSPERZ', 'score': 11.52}, {'connected_gene': 'ESRRA', 'score': 11.52}, {'connected_gene': 'FAU', 'score': 10.3}, {'connected_gene': 'SYVN1', 'score': 9.66}, {'connected_gene': 'CCDC88B', 'score': 8.56}, {'connected_gene': 'ENSG00000256116', 'score': 5.75}, {'connected_gene': 'NUDT22', 'score': 0.37}]
chr11 GH11I064267 64267086 64274313 1.82 [{'connected_gene': 'GPR137', 'score': 550.77}, {'connected_gene': 'ZFPL1', 'score': 34.68}, {'connected_gene': 'SF1', 'score': 32.9}, {'connected_gene': 'POLA2', 'score': 32.78}, {'connected_gene': 'PLCB3', 'score': 27.53}, {'connected_gene': 'TRMT112', 'score': 23.09}, {'connected_gene': 'DNAJC4', 'score': 21.3}, {'connected_gene': 'ENSG00000257086', 'score': 20.68}, {'connected_gene': 'FAU', 'score': 20.2}, {'connected_gene': 'LOC102723878', 'score': 19.24}, {'connected_gene': 'TRPT1', 'score': 17.08}, {'connected_gene': 'NAALADL1', 'score': 15.12}, {'connected_gene': 'NRXN2', 'score': 13.07}, {'connected_gene': 'KCNK4', 'score': 12.91}, {'connected_gene': 'SPINDOC', 'score': 12.7}, {'connected_gene': 'ATL3', 'score': 12.19}, {'connected_gene': 'ESRRA', 'score': 11.38}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'RCOR2', 'score': 11.14}, {'connected_gene': 'PRDX5', 'score': 10.91}, {'connected_gene': 'PPP2R5B', 'score': 10.6}, {'connected_gene': 'C11orf95', 'score': 10.12}, {'connected_gene': 'ENSG00000231680', 'score': 9.23}, {'connected_gene': 'CCDC88B', 'score': 4.54}, {'connected_gene': 'GC11P064262', 'score': 0.44}, {'connected_gene': 'BAD', 'score': 0.39}]
chr11 GH11I064093 64093372 64095726 1.24 [{'connected_gene': 'PLCB3', 'score': 17.24}, {'connected_gene': 'SF1', 'score': 16.07}, {'connected_gene': 'ENSG00000256341', 'score': 11.89}, {'connected_gene': 'ZFPL1', 'score': 10.37}, {'connected_gene': 'NAALADL1', 'score': 10.36}, {'connected_gene': 'TRPT1', 'score': 9.42}, {'connected_gene': 'VEGFB', 'score': 6.92}, {'connected_gene': 'NRXN2', 'score': 4.55}, {'connected_gene': 'FKBP2', 'score': 4.31}, {'connected_gene': 'ENSG00000256481', 'score': 0.39}, {'connected_gene': 'PIR46997', 'score': 0.34}, {'connected_gene': 'FLRT1', 'score': 0.22}, {'connected_gene': 'ENSG00000256824', 'score': 0.22}, {'connected_gene': 'MACROD1', 'score': 0.19}]
chr11 GH11I064120 64120725 64123803 0.97 [{'connected_gene': 'TRMT112', 'score': 18.96}, {'connected_gene': 'TRPT1', 'score': 15.64}, {'connected_gene': 'FLRT1', 'score': 8.35}, {'connected_gene': 'ENSG00000256341', 'score': 0.77}, {'connected_gene': 'GC11M064153', 'score': 0.31}, {'connected_gene': 'PIR54353', 'score': 0.31}, {'connected_gene': 'MACROD1', 'score': 0.26}]
chr11 GH11I064152 64152722 64154382 0.99 [{'connected_gene': 'TRMT112', 'score': 18.83}, {'connected_gene': 'TRPT1', 'score': 16.1}, {'connected_gene': 'STIP1', 'score': 11.54}, {'connected_gene': 'ENSG00000256341', 'score': 11.13}, {'connected_gene': 'FLRT1', 'score': 11.04}, {'connected_gene': 'ENSG00000256100', 'score': 10.98}, {'connected_gene': 'COX8A', 'score': 10.98}, {'connected_gene': 'RNU6-45P', 'score': 10.97}, {'connected_gene': 'ENSG00000256481', 'score': 10.85}, {'connected_gene': 'FERMT3', 'score': 10.73}, {'connected_gene': 'MARK2', 'score': 10.67}, {'connected_gene': 'ENSG00000256116', 'score': 5.99}, {'connected_gene': 'GC11M064153', 'score': 0.77}, {'connected_gene': 'PIR54353', 'score': 0.77}, {'connected_gene': 'MACROD1', 'score': 0.39}]
chr11 GH11I064231 64231689 64231838 0.38 [{'connected_gene': 'DNAJC4', 'score': 550.77}, {'connected_gene': 'PIR49361', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 29.61}, {'connected_gene': 'ENSG00000256116', 'score': 0.77}]
chr11 GH11I064237 64237035 64253602 2.32 [{'connected_gene': 'PPP1R14B', 'score': 572.68}, {'connected_gene': 'FKBP2', 'score': 550.77}, {'connected_gene': 'LOC105369340', 'score': 550.77}, {'connected_gene': 'PLCB3', 'score': 550.44}, {'connected_gene': 'TRPT1', 'score': 23.86}, {'connected_gene': 'LOC102723878', 'score': 22.35}, {'connected_gene': 'VEGFB', 'score': 19.71}, {'connected_gene': 'TRMT112', 'score': 17.45}, {'connected_gene': 'FERMT3', 'score': 12.7}, {'connected_gene': 'GPR137', 'score': 11.63}, {'connected_gene': 'BAD', 'score': 11.57}, {'connected_gene': 'ENSG00000257086', 'score': 6.66}, {'connected_gene': 'ENSG00000256116', 'score': 5.79}, {'connected_gene': 'FLRT1', 'score': 5.1}, {'connected_gene': 'PIR60417', 'score': 0.44}]
chr11 GH11I064163 64163419 64167428 2.04 [{'connected_gene': 'LOC105369339', 'score': 550.77}, {'connected_gene': 'MACROD1', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 32.64}, {'connected_gene': 'TRPT1', 'score': 32.25}, {'connected_gene': 'ZFPL1', 'score': 26.06}, {'connected_gene': 'PLCB3', 'score': 22.87}, {'connected_gene': 'TRMT112', 'score': 19.01}, {'connected_gene': 'ATG2A', 'score': 17.73}, {'connected_gene': 'ENSG00000257086', 'score': 14.2}, {'connected_gene': 'VPS51', 'score': 13.39}, {'connected_gene': 'SYVN1', 'score': 11.79}, {'connected_gene': 'FAU', 'score': 11.46}, {'connected_gene': 'ENSG00000256481', 'score': 10.55}, {'connected_gene': 'ENSG00000256341', 'score': 10.32}, {'connected_gene': 'MRPL49', 'score': 10.04}, {'connected_gene': 'NAA40', 'score': 9.99}, {'connected_gene': 'CCDC88B', 'score': 8.51}, {'connected_gene': 'ENSG00000256116', 'score': 5.8}, {'connected_gene': 'TM7SF2', 'score': 5.01}, {'connected_gene': 'PIR54353', 'score': 0.39}, {'connected_gene': 'GC11M064153', 'score': 0.39}]
chr11 GH11I064180 64180515 64182599 1.15 [{'connected_gene': 'PIR62169', 'score': 550.77}, {'connected_gene': 'PIR58555', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 33.91}, {'connected_gene': 'FERMT3', 'score': 11.83}, {'connected_gene': 'ENSG00000257086', 'score': 10.84}, {'connected_gene': 'PLCB3', 'score': 10.84}, {'connected_gene': 'ENSG00000256341', 'score': 10.34}, {'connected_gene': 'NAA40', 'score': 9.75}, {'connected_gene': 'CCDC88B', 'score': 8.55}, {'connected_gene': 'STIP1', 'score': 0.77}]
chr11 GH11I064147 64147964 64149378 1.11 [{'connected_gene': 'GC11M064153', 'score': 550.77}, {'connected_gene': 'PIR54353', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 22.36}, {'connected_gene': 'TRMT112', 'score': 18.94}, {'connected_gene': 'MACROD1', 'score': 0.37}, {'connected_gene': 'ENSG00000256341', 'score': 0.31}]
chr11 GH11I064090 64090801 64091800 1.4 [{'connected_gene': 'ENSG00000256341', 'score': 11.77}, {'connected_gene': 'TRPT1', 'score': 9.23}, {'connected_gene': 'LOC102723878', 'score': 5.02}, {'connected_gene': 'FKBP2', 'score': 4.29}, {'connected_gene': 'ENSG00000256481', 'score': 0.44}, {'connected_gene': 'PIR46997', 'score': 0.31}, {'connected_gene': 'FLRT1', 'score': 0.22}, {'connected_gene': 'ENSG00000256824', 'score': 0.22}, {'connected_gene': 'MACROD1', 'score': 0.19}]
chr11 GH11I064232 64232929 64232971 0.31 [{'connected_gene': 'PIR49361', 'score': 550.77}, {'connected_gene': 'VEGFB', 'score': 550.77}, {'connected_gene': 'ENSG00000256116', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 17.64}, {'connected_gene': 'DNAJC4', 'score': 0.77}]
chr11 GH11I064233 64233001 64233200 0.38 [{'connected_gene': 'PIR49361', 'score': 550.77}, {'connected_gene': 'VEGFB', 'score': 550.77}, {'connected_gene': 'ENSG00000256116', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 17.65}, {'connected_gene': 'DNAJC4', 'score': 0.77}]
chr11 GH11I064183 64183481 64187865 2.33 [{'connected_gene': 'GC11M064182', 'score': 550.77}, {'connected_gene': 'STIP1', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 24.67}, {'connected_gene': 'ENSG00000257086', 'score': 21.53}, {'connected_gene': 'IMMP1LP1', 'score': 13.74}, {'connected_gene': 'FERMT3', 'score': 13.36}, {'connected_gene': 'SF1', 'score': 11.49}, {'connected_gene': 'C11orf95', 'score': 11.35}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'PLCB3', 'score': 10.84}, {'connected_gene': 'ENSG00000256341', 'score': 10.34}, {'connected_gene': 'DNAJC4', 'score': 9.9}, {'connected_gene': 'NAA40', 'score': 9.75}, {'connected_gene': 'ZFPL1', 'score': 9.73}, {'connected_gene': 'VEGFB', 'score': 7.97}, {'connected_gene': 'ENSG00000256116', 'score': 5.65}, {'connected_gene': 'OTUB1', 'score': 2.03}, {'connected_gene': 'CCDC88B', 'score': 1.86}]

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