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
ENST00000477088 [[131798899, 131798960], [131802730, 131802969], [131804410, 131804679]] None
ENST00000474534 [[131798899, 131798960], [131802730, 131802969], [131804582, 131804793], [131809383, 131809503]] None
ENST00000439290 [[131798922, 131798960], [131802730, 131802969], [131804582, 131804793], [131810705, 131810818], [131811659, 131811777], [131812105, 131812242], [131813578, 131813699], [131821432, 131821550], [131822828, 131822929], [131823509, 131823625], [131825522, 131825595], [131825823, 131825910], [131830051, 131830150], [131830476, 131831254], [131831354, 131831408], [131832127, 131832244], [131832525, 131834350]] [[131802873, 131802969], [131804582, 131804793], [131810705, 131810818], [131811659, 131811777], [131812105, 131812242], [131813578, 131813699], [131821432, 131821550], [131822828, 131822886]]
ENST00000445183 [[131798924, 131798960], [131802730, 131802969], [131804582, 131804793], [131810705, 131810818], [131811659, 131811777], [131812105, 131812242], [131821432, 131821550], [131822828, 131822929], [131823509, 131823625], [131830051, 131830150], [131830297, 131830611], [131831354, 131831408], [131832127, 131832244], [131832525, 131834350]] [[131802873, 131802969], [131804582, 131804793], [131810705, 131810818], [131811659, 131811777], [131812105, 131812242], [131821432, 131821550], [131822828, 131822929], [131823509, 131823625], [131830051, 131830091]]
ENST00000358369 [[131799212, 131799295], [131802730, 131802969], [131804582, 131804793], [131810705, 131810818], [131811659, 131811777], [131812105, 131812242], [131821432, 131821550], [131822828, 131822929], [131823509, 131823625], [131825522, 131825595], [131825823, 131825910], [131830051, 131830150], [131830476, 131830611], [131831354, 131831408], [131832127, 131832244], [131832525, 131834361]] [[131802873, 131802969], [131804582, 131804793], [131810705, 131810818], [131811659, 131811777], [131812105, 131812242], [131821432, 131821550], [131822828, 131822929], [131823509, 131823625], [131825522, 131825595], [131825823, 131825910], [131830051, 131830150], [131830476, 131830611], [131831354, 131831408], [131832127, 131832244], [131832525, 131832732]]
ENST00000277475 [[131799252, 131799295], [131802730, 131802969], [131804582, 131804793], [131810705, 131810818], [131811659, 131811777], [131812105, 131812242], [131813578, 131813699], [131821432, 131821550], [131822828, 131822929], [131823509, 131823625], [131825522, 131825595], [131825823, 131825910], [131830051, 131830150], [131830476, 131830611], [131831354, 131831408], [131832127, 131832244], [131832525, 131834350]] [[131802873, 131802969], [131804582, 131804793], [131810705, 131810818], [131811659, 131811777], [131812105, 131812242], [131813578, 131813699], [131821432, 131821550], [131822828, 131822886]]
ENST00000406926 [[131799252, 131799295], [131802730, 131802969], [131804582, 131804793], [131810705, 131810818], [131811659, 131811777], [131812105, 131812242], [131821432, 131821550], [131822828, 131822929], [131823509, 131823625], [131830051, 131830150], [131830476, 131830611], [131831354, 131831408], [131832127, 131832244], [131832525, 131834350]] [[131802873, 131802969], [131804582, 131804793], [131810705, 131810818], [131811659, 131811777], [131812105, 131812242], [131821432, 131821550], [131822828, 131822929], [131823509, 131823625], [131830051, 131830091]]
ENST00000450073 [[131799273, 131799295], [131802066, 131802165], [131802730, 131802969], [131804582, 131804785]] [[131802873, 131802969], [131804582, 131804785]]
ENST00000474639 [[131822760, 131822929], [131823509, 131823625], [131825823, 131825910], [131830051, 131830150], [131830476, 131830590]] None
ENST00000494608 [[131822830, 131822929], [131823509, 131823625], [131825451, 131825595], [131825823, 131825909]] None
ENST00000495975 [[131823575, 131823625], [131825522, 131825595], [131825823, 131825910], [131830051, 131830293]] None
ENST00000414342 [[131825565, 131825595], [131825823, 131825910], [131830051, 131830150], [131830273, 131830611], [131831354, 131831374]] [[131825565, 131825595], [131825823, 131825910], [131830051, 131830150], [131830273, 131830489]]
ENST00000471943 [[131829786, 131830150], [131830476, 131830679]] None
ENST00000492279 [[131831212, 131831254], [131831354, 131832213]] None
ENST00000483458 [[131831537, 131832244], [131832525, 131834350]] None
NR_138422 [[131798789, 131798960], [131802730, 131802969], [131804582, 131804793], [131810705, 131810818], [131811659, 131811777], [131812105, 131812242], [131821432, 131821550], [131822828, 131822929], [131823509, 131823625], [131830051, 131830150], [131830297, 131830611], [131831354, 131831408], [131832127, 131832244], [131832525, 131834361]] None
NM_001329990 [[131798789, 131798960], [131802730, 131802969], [131804582, 131804793], [131810705, 131810818], [131811659, 131811777], [131812105, 131812242], [131821432, 131821550], [131822828, 131822929], [131823509, 131823625], [131825522, 131825595], [131825823, 131825910], [131830051, 131830150], [131830476, 131830611], [131831354, 131831408], [131832127, 131832244], [131832525, 131834361]] [[131802873, 131802969], [131804582, 131804793], [131810705, 131810818], [131811659, 131811777], [131812105, 131812242], [131821432, 131821550], [131822828, 131822929], [131823509, 131823625], [131825522, 131825595], [131825823, 131825910], [131830051, 131830150], [131830476, 131830611], [131831354, 131831408], [131832127, 131832244], [131832525, 131832732]]
NR_138424 [[131798789, 131798960], [131802730, 131802969], [131804582, 131804793], [131810705, 131810818], [131811659, 131811777], [131812105, 131812242], [131821432, 131821550], [131822828, 131822929], [131823509, 131823625], [131825522, 131825595], [131825823, 131825910], [131830051, 131830150], [131830476, 131831254], [131831354, 131831408], [131832127, 131832244], [131832525, 131834361]] None
NR_138425 [[131798789, 131798960], [131802730, 131802969], [131804582, 131804793], [131810705, 131810818], [131811659, 131811777], [131812105, 131812242], [131821432, 131821550], [131822828, 131822929], [131823509, 131823625], [131825451, 131825595], [131825823, 131825910], [131830051, 131830150], [131830476, 131831178], [131831354, 131831408], [131832127, 131832244], [131832525, 131834361]] None
NR_138423 [[131798789, 131798960], [131802730, 131802969], [131804582, 131804793], [131810705, 131810818], [131811659, 131811777], [131812105, 131812242], [131821432, 131821550], [131822828, 131822929], [131823509, 131823625], [131825451, 131825595], [131825823, 131825910], [131827085, 131827204], [131830051, 131830150], [131830476, 131831254], [131831354, 131831408], [131832127, 131832244], [131832525, 131834361]] None
NR_138421 [[131798789, 131798960], [131802730, 131802969], [131804582, 131804793], [131810705, 131810818], [131811659, 131811777], [131812105, 131812242], [131813578, 131813699], [131821432, 131821550], [131822828, 131822929], [131823509, 131823625], [131825522, 131825595], [131825823, 131825910], [131830051, 131830150], [131830476, 131831254], [131831354, 131831408], [131832127, 131832244], [131832525, 131834361]] None
NM_032809 [[131799212, 131799295], [131802730, 131802969], [131804582, 131804793], [131810705, 131810818], [131811659, 131811777], [131812105, 131812242], [131821432, 131821550], [131822828, 131822929], [131823509, 131823625], [131825522, 131825595], [131825823, 131825910], [131830051, 131830150], [131830476, 131830611], [131831354, 131831408], [131832127, 131832244], [131832525, 131834361]] [[131799246, 131799295], [131802730, 131802969], [131804582, 131804793], [131810705, 131810818], [131811659, 131811777], [131812105, 131812242], [131821432, 131821550], [131822828, 131822929], [131823509, 131823625], [131825522, 131825595], [131825823, 131825910], [131830051, 131830150], [131830476, 131830611], [131831354, 131831408], [131832127, 131832244], [131832525, 131832732]]
Promoter
Chrom Start End Description
chr9 131798893 131798917 CAGE_peak_2_at_FAM73B_5end
chr9 131798918 131798942 CAGE_peak_1_at_FAM73B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I129051 129051838 129053360 0.69 [{'connected_gene': 'MIGA2', 'score': 0.37}, {'connected_gene': 'DOLPP1', 'score': 0.31}]
chr9 GH09I129058 129058282 129058431 0.31 [{'connected_gene': 'MIGA2', 'score': 0.34}, {'connected_gene': 'DOLPP1', 'score': 0.34}]
chr9 GH09I129031 129031642 129031791 0.38 [{'connected_gene': 'MIGA2', 'score': 10.64}, {'connected_gene': 'SH3GLB2', 'score': 0.77}]
chr9 GH09I129035 129035826 129038761 2.06 [{'connected_gene': 'MIGA2', 'score': 560.44}, {'connected_gene': 'NAIF1', 'score': 14.17}, {'connected_gene': 'GLE1', 'score': 13.8}, {'connected_gene': 'TOR1B', 'score': 12.07}, {'connected_gene': 'NUP188', 'score': 12.06}, {'connected_gene': 'ZDHHC12', 'score': 10.14}, {'connected_gene': 'LOC100506100', 'score': 10.14}, {'connected_gene': 'PKN3', 'score': 10.14}, {'connected_gene': 'ENSG00000268707', 'score': 9.54}, {'connected_gene': 'DOLPP1', 'score': 0.26}]
chr9 GH09I129338 129338752 129340070 1.27 [{'connected_gene': 'URM1', 'score': 38.38}, {'connected_gene': 'NUP188', 'score': 31.39}, {'connected_gene': 'SPOUT1', 'score': 30.09}, {'connected_gene': 'LOC101929314', 'score': 19.8}, {'connected_gene': 'PKN3', 'score': 13.96}, {'connected_gene': 'GPR107', 'score': 11.89}, {'connected_gene': 'GLE1', 'score': 11.73}, {'connected_gene': 'IER5L', 'score': 11.73}, {'connected_gene': 'LOC105376289', 'score': 11.73}, {'connected_gene': 'MIGA2', 'score': 11.7}, {'connected_gene': 'NTMT1', 'score': 10.94}, {'connected_gene': 'C9orf50', 'score': 10.94}, {'connected_gene': 'ENSG00000234055', 'score': 10.58}, {'connected_gene': 'ODF2', 'score': 10.4}, {'connected_gene': 'TOR1B', 'score': 10.24}, {'connected_gene': 'SET', 'score': 10.22}, {'connected_gene': 'LOC101929270', 'score': 9.69}, {'connected_gene': 'LINC01503', 'score': 7.65}, {'connected_gene': 'RN7SL159P', 'score': 0.29}]
chr9 GH09I128549 128549522 128560067 2.52 [{'connected_gene': 'SPTAN1', 'score': 550.77}, {'connected_gene': 'URM1', 'score': 18.25}, {'connected_gene': 'TOR2A', 'score': 12.38}, {'connected_gene': 'MIGA2', 'score': 9.93}, {'connected_gene': 'LRRC8A', 'score': 9.69}, {'connected_gene': 'KYAT1', 'score': 9.69}, {'connected_gene': 'ENSG00000273186', 'score': 8.2}, {'connected_gene': 'LOC101929270', 'score': 0.77}, {'connected_gene': 'ENSG00000280474', 'score': 0.26}]
chr9 GH09I128786 128786330 128788909 2.1 [{'connected_gene': 'TBC1D13', 'score': 550.77}, {'connected_gene': 'SPOUT1', 'score': 16.79}, {'connected_gene': 'MIGA2', 'score': 11.71}, {'connected_gene': 'ZDHHC12', 'score': 11.5}, {'connected_gene': 'LOC100506100', 'score': 11.5}, {'connected_gene': 'PKN3', 'score': 11.45}, {'connected_gene': 'LRRC8A', 'score': 10.45}, {'connected_gene': 'KYAT1', 'score': 10.45}, {'connected_gene': 'SLC25A25-AS1', 'score': 10.05}, {'connected_gene': 'CIZ1', 'score': 9.79}, {'connected_gene': 'ENDOG', 'score': 5.06}]
chr9 GH09I129340 129340201 129342132 1.29 [{'connected_gene': 'SPOUT1', 'score': 34.25}, {'connected_gene': 'NUP188', 'score': 33.09}, {'connected_gene': 'LOC101929314', 'score': 31.54}, {'connected_gene': 'ODF2', 'score': 29.29}, {'connected_gene': 'URM1', 'score': 28.3}, {'connected_gene': 'GPR107', 'score': 20.51}, {'connected_gene': 'LOC101929270', 'score': 19.65}, {'connected_gene': 'PKN3', 'score': 13.96}, {'connected_gene': 'GLE1', 'score': 11.73}, {'connected_gene': 'IER5L', 'score': 11.73}, {'connected_gene': 'LOC105376289', 'score': 11.73}, {'connected_gene': 'MIGA2', 'score': 11.7}, {'connected_gene': 'WDR34', 'score': 11.68}, {'connected_gene': 'NTMT1', 'score': 10.94}, {'connected_gene': 'C9orf50', 'score': 10.94}, {'connected_gene': 'TOR1B', 'score': 10.24}, {'connected_gene': 'SET', 'score': 10.22}, {'connected_gene': 'LINC01503', 'score': 7.19}, {'connected_gene': 'RN7SL159P', 'score': 0.31}]
chr9 GH09I129361 129361693 129363712 1.19 [{'connected_gene': 'PRRX2', 'score': 14.17}, {'connected_gene': 'PKN3', 'score': 13.95}, {'connected_gene': 'NUP188', 'score': 10.99}, {'connected_gene': 'URM1', 'score': 10.56}, {'connected_gene': 'MIGA2', 'score': 9.8}, {'connected_gene': 'SET', 'score': 9.71}, {'connected_gene': 'RN7SL159P', 'score': 0.44}, {'connected_gene': 'LINC01503', 'score': 0.29}]
chr9 GH09I129380 129380462 129385068 1.5 [{'connected_gene': 'NTMT1', 'score': 11.36}, {'connected_gene': 'C9orf50', 'score': 11.35}, {'connected_gene': 'ENDOG', 'score': 5.96}, {'connected_gene': 'GLE1', 'score': 4.79}, {'connected_gene': 'USP20', 'score': 4.08}, {'connected_gene': 'C9orf106', 'score': 3.88}, {'connected_gene': 'C9orf78', 'score': 2.95}, {'connected_gene': 'MIGA2', 'score': 2.79}, {'connected_gene': 'TOR1B', 'score': 1.46}, {'connected_gene': 'ASB6', 'score': 1.26}, {'connected_gene': 'ENSG00000236146', 'score': 0.77}, {'connected_gene': 'LOC105376291', 'score': 0.22}]
chr9 GH09I129605 129605996 129611769 2.66 [{'connected_gene': 'NTMT1', 'score': 555.88}, {'connected_gene': 'NUP188', 'score': 52.1}, {'connected_gene': 'LOC101929314', 'score': 39.92}, {'connected_gene': 'SPOUT1', 'score': 29.24}, {'connected_gene': 'FUBP3', 'score': 26.05}, {'connected_gene': 'PKN3', 'score': 22.15}, {'connected_gene': 'C9orf50', 'score': 16.13}, {'connected_gene': 'NCS1', 'score': 13.31}, {'connected_gene': 'MIGA2', 'score': 11.69}, {'connected_gene': 'USP20', 'score': 10.28}, {'connected_gene': 'ASB6', 'score': 6.36}, {'connected_gene': 'IER5L', 'score': 5.23}, {'connected_gene': 'PRRX2', 'score': 1.71}, {'connected_gene': 'CRAT', 'score': 1.36}, {'connected_gene': 'C9orf106', 'score': 1.28}, {'connected_gene': 'GPR107', 'score': 1.21}, {'connected_gene': 'LOC105376292', 'score': 0.29}]
chr9 GH09I128837 128837735 128839000 0.93 [{'connected_gene': 'NUP188', 'score': 75.99}, {'connected_gene': 'SPOUT1', 'score': 65.38}, {'connected_gene': 'ODF2', 'score': 52.0}, {'connected_gene': 'GOLGA2', 'score': 50.53}, {'connected_gene': 'CIZ1', 'score': 50.33}, {'connected_gene': 'URM1', 'score': 46.32}, {'connected_gene': 'GLE1', 'score': 30.45}, {'connected_gene': 'NAIF1', 'score': 29.6}, {'connected_gene': 'LOC101929314', 'score': 22.53}, {'connected_gene': 'SWI5', 'score': 20.94}, {'connected_gene': 'ENSG00000272696', 'score': 20.4}, {'connected_gene': 'TOR1B', 'score': 19.54}, {'connected_gene': 'PKN3', 'score': 18.24}, {'connected_gene': 'ENSG00000234055', 'score': 12.38}, {'connected_gene': 'SPTAN1', 'score': 10.84}, {'connected_gene': 'SET', 'score': 10.19}, {'connected_gene': 'DOLK', 'score': 10.14}, {'connected_gene': 'WDR34', 'score': 10.01}, {'connected_gene': 'COQ4', 'score': 9.87}, {'connected_gene': 'MIGA2', 'score': 9.83}, {'connected_gene': 'GC09P128831', 'score': 0.44}, {'connected_gene': 'LRRC8A', 'score': 0.26}, {'connected_gene': 'KYAT1', 'score': 0.26}]
chr9 GH09I128946 128946583 128948801 2.09 [{'connected_gene': 'NUP188', 'score': 571.28}, {'connected_gene': 'DOLK', 'score': 550.77}, {'connected_gene': 'SPOUT1', 'score': 33.53}, {'connected_gene': 'LOC101929314', 'score': 29.15}, {'connected_gene': 'ENSG00000234055', 'score': 21.6}, {'connected_gene': 'SH3GLB2', 'score': 20.17}, {'connected_gene': 'GOLGA2', 'score': 20.16}, {'connected_gene': 'NAIF1', 'score': 14.17}, {'connected_gene': 'PRRX2', 'score': 14.14}, {'connected_gene': 'GLE1', 'score': 13.81}, {'connected_gene': 'URM1', 'score': 13.49}, {'connected_gene': 'COQ4', 'score': 12.72}, {'connected_gene': 'PKN3', 'score': 12.13}, {'connected_gene': 'TOR1B', 'score': 12.07}, {'connected_gene': 'MIGA2', 'score': 11.81}, {'connected_gene': 'WDR34', 'score': 11.72}, {'connected_gene': 'LOC101929270', 'score': 11.08}, {'connected_gene': 'CIZ1', 'score': 10.17}, {'connected_gene': 'ENSG00000272593', 'score': 10.15}, {'connected_gene': 'SLC25A25-AS1', 'score': 10.05}, {'connected_gene': 'SET', 'score': 9.75}, {'connected_gene': 'ENSG00000251184', 'score': 0.44}]
chr9 GH09I129909 129909771 129911492 1.35 [{'connected_gene': 'EXOSC2', 'score': 17.87}, {'connected_gene': 'FUBP3', 'score': 16.56}, {'connected_gene': 'ENSG00000234055', 'score': 12.34}, {'connected_gene': 'MIGA2', 'score': 9.92}, {'connected_gene': 'FNBP1', 'score': 6.5}, {'connected_gene': 'TOR1A', 'score': 6.24}, {'connected_gene': 'GC09P129914', 'score': 0.77}, {'connected_gene': 'GC09M129895', 'score': 0.39}]
chr9 GH09I130026 130026042 130046434 2.78 [{'connected_gene': 'FNBP1', 'score': 562.07}, {'connected_gene': 'USP20', 'score': 20.71}, {'connected_gene': 'TOR1A', 'score': 16.62}, {'connected_gene': 'C9orf78', 'score': 15.63}, {'connected_gene': 'ENSG00000230684', 'score': 10.67}, {'connected_gene': 'EXOSC2', 'score': 10.63}, {'connected_gene': 'MIGA2', 'score': 9.77}, {'connected_gene': 'C9orf50', 'score': 5.49}, {'connected_gene': 'NCS1', 'score': 5.22}, {'connected_gene': 'TOR1B', 'score': 4.69}, {'connected_gene': 'ASB6', 'score': 1.93}, {'connected_gene': 'GC09M130044', 'score': 0.44}, {'connected_gene': 'ENSG00000270755', 'score': 0.44}]
chr9 GH09I129064 129064555 129064928 0.89 [{'connected_gene': 'CRAT', 'score': 19.69}, {'connected_gene': 'ENSG00000234055', 'score': 13.52}, {'connected_gene': 'MIGA2', 'score': 12.75}, {'connected_gene': 'DOLPP1', 'score': 0.37}]
chr9 GH09I129067 129067472 129072710 1.41 [{'connected_gene': 'CRAT', 'score': 19.08}, {'connected_gene': 'ENSG00000234055', 'score': 13.53}, {'connected_gene': 'MIGA2', 'score': 12.74}, {'connected_gene': 'DOLPP1', 'score': 0.39}]
chr9 GH09I129075 129075426 129077511 0.64 [{'connected_gene': 'CRAT', 'score': 20.26}, {'connected_gene': 'URM1', 'score': 4.68}, {'connected_gene': 'DOLPP1', 'score': 0.77}, {'connected_gene': 'MIGA2', 'score': 0.28}]
chr9 GH09I129078 129078257 129079558 0.57 [{'connected_gene': 'CRAT', 'score': 26.06}, {'connected_gene': 'DOLPP1', 'score': 0.77}, {'connected_gene': 'MIGA2', 'score': 0.26}]
chr9 GH09I129457 129457648 129462047 1.77 [{'connected_gene': 'LOC101929314', 'score': 33.31}, {'connected_gene': 'SPOUT1', 'score': 31.31}, {'connected_gene': 'LOC101929270', 'score': 21.37}, {'connected_gene': 'NTMT1', 'score': 11.87}, {'connected_gene': 'C9orf50', 'score': 11.85}, {'connected_gene': 'NUP188', 'score': 11.75}, {'connected_gene': 'LINC00963', 'score': 7.08}, {'connected_gene': 'USP20', 'score': 5.98}, {'connected_gene': 'C9orf106', 'score': 3.56}, {'connected_gene': 'ASB6', 'score': 2.84}, {'connected_gene': 'C9orf78', 'score': 2.06}, {'connected_gene': 'MIGA2', 'score': 1.78}, {'connected_gene': 'TOR1B', 'score': 1.14}, {'connected_gene': 'ENSG00000230676', 'score': 0.44}, {'connected_gene': 'ENSG00000261334', 'score': 0.34}]
chr9 GH09I128053 128053401 128058524 1.5 [{'connected_gene': 'ENSG00000230848', 'score': 550.77}, {'connected_gene': 'MIGA2', 'score': 9.77}, {'connected_gene': 'NAIF1', 'score': 6.92}, {'connected_gene': 'SLC25A25-AS1', 'score': 6.91}, {'connected_gene': 'PTGES2-AS1', 'score': 6.31}, {'connected_gene': 'SLC27A4', 'score': 4.91}, {'connected_gene': 'PIP5KL1', 'score': 4.34}, {'connected_gene': 'FAM102A', 'score': 3.81}, {'connected_gene': 'DPM2', 'score': 1.76}, {'connected_gene': 'SH2D3C', 'score': 1.5}, {'connected_gene': 'TTC16', 'score': 1.34}, {'connected_gene': 'CFAP157', 'score': 1.15}]
chr9 GH09I129033 129033286 129033506 0.65 [{'connected_gene': 'ENSG00000272696', 'score': 12.22}, {'connected_gene': 'SPTAN1', 'score': 10.82}, {'connected_gene': 'LOC101929314', 'score': 10.5}, {'connected_gene': 'MIGA2', 'score': 0.77}, {'connected_gene': 'SH3GLB2', 'score': 0.44}]

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