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
ENST00000225298 [[49337888, 49338287], [49340634, 49340747], [49343542, 49343641], [49346197, 49346265], [49350722, 49350811], [49353226, 49353352], [49354490, 49354665], [49357365, 49357466], [49357749, 49357840], [49362605, 49362729], [49365389, 49365564], [49371263, 49371406], [49374325, 49374364], [49375142, 49375294]] [[49337945, 49338287], [49340634, 49340747], [49343542, 49343641], [49346197, 49346265], [49350722, 49350811], [49353226, 49353352], [49354490, 49354665], [49357365, 49357466], [49357749, 49357840], [49362605, 49362729], [49365389, 49365564], [49371263, 49371406], [49374325, 49374350]]
ENST00000508506 [[49353228, 49353352], [49357365, 49357466], [49357749, 49357840], [49362605, 49362729], [49365389, 49365541]] [[49353228, 49353352], [49357365, 49357371]]
ENST00000583725 [[49354523, 49354665], [49357365, 49357466], [49357749, 49357840], [49362605, 49362729], [49363843, 49363913], [49365389, 49365438]] [[49354523, 49354665], [49357365, 49357466], [49357749, 49357840], [49362605, 49362729], [49363843, 49363913], [49365389, 49365395]]
ENST00000583205 [[49357376, 49357466], [49357749, 49357840], [49362605, 49362729], [49365484, 49365564], [49371263, 49371406], [49374325, 49374364], [49375142, 49375239]] [[49357376, 49357466], [49357749, 49357840], [49362605, 49362729], [49365484, 49365564], [49371263, 49371310]]
ENST00000579261 [[49357810, 49357840], [49362605, 49362729], [49365389, 49365564], [49365908, 49365952], [49374325, 49374364], [49375142, 49375297]] [[49357810, 49357840], [49362605, 49362729], [49365389, 49365564], [49365908, 49365950]]
ENST00000582832 [[49362628, 49362729], [49365389, 49365564], [49374325, 49374364], [49375142, 49375291]] [[49362628, 49362729], [49365389, 49365564], [49374325, 49374364], [49375142, 49375175]]
ENST00000582150 [[49373615, 49374364], [49375142, 49375290]] None
NM_016001 [[49337896, 49338287], [49340634, 49340747], [49343542, 49343641], [49346197, 49346265], [49350722, 49350811], [49353226, 49353352], [49354490, 49354665], [49357365, 49357466], [49357749, 49357840], [49362605, 49362729], [49365389, 49365564], [49371263, 49371406], [49374325, 49374364], [49375142, 49375294]] [[49337945, 49338287], [49340634, 49340747], [49343542, 49343641], [49346197, 49346265], [49350722, 49350811], [49353226, 49353352], [49354490, 49354665], [49357365, 49357466], [49357749, 49357840], [49362605, 49362729], [49365389, 49365564], [49371263, 49371406], [49374325, 49374350]]
Promoter
Chrom Start End Description
chr17 49337837 49337849 CAGE_peak_2_at_UTP18_5end
chr17 49337881 49337947 CAGE_peak_1_at_UTP18_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I050706 50706515 50710026 2.32 [{'connected_gene': 'ANKRD40', 'score': 573.08}, {'connected_gene': 'UTP18', 'score': 12.59}, {'connected_gene': 'PICART1', 'score': 9.84}, {'connected_gene': 'LOC105371824', 'score': 9.78}, {'connected_gene': 'MBTD1', 'score': 9.71}, {'connected_gene': 'ABCC3', 'score': 4.66}, {'connected_gene': 'NME2', 'score': 4.44}, {'connected_gene': 'LUC7L3', 'score': 0.39}]
chr17 GH17I051118 51118360 51123378 2.34 [{'connected_gene': 'SPAG9', 'score': 550.77}, {'connected_gene': 'MBTD1', 'score': 25.58}, {'connected_gene': 'ENSG00000249870', 'score': 11.55}, {'connected_gene': 'LUC7L3', 'score': 10.0}, {'connected_gene': 'ENSG00000251665', 'score': 9.81}, {'connected_gene': 'UTP18', 'score': 5.89}, {'connected_gene': 'NME1', 'score': 0.29}, {'connected_gene': 'NME1-NME2', 'score': 0.29}]
chr17 GH17I051044 51044955 51048232 2.32 [{'connected_gene': 'SPAG9', 'score': 550.19}, {'connected_gene': 'MBTD1', 'score': 22.45}, {'connected_gene': 'ENSG00000251665', 'score': 10.34}, {'connected_gene': 'UTP18', 'score': 6.53}, {'connected_gene': 'ENSG00000249870', 'score': 0.77}]
chr17 GH17I050443 50443031 50444135 1 [{'connected_gene': 'ACSF2', 'score': 22.73}, {'connected_gene': 'ENSG00000262837', 'score': 19.89}, {'connected_gene': 'MBTD1', 'score': 17.62}, {'connected_gene': 'FAM117A', 'score': 11.47}, {'connected_gene': 'UTP18', 'score': 10.77}, {'connected_gene': 'FLJ45513', 'score': 10.15}, {'connected_gene': 'XYLT2', 'score': 9.98}, {'connected_gene': 'MRPS21P9', 'score': 0.44}]
chr17 GH17I050423 50423535 50430450 2.05 [{'connected_gene': 'ACSF2', 'score': 559.39}, {'connected_gene': 'MBTD1', 'score': 36.55}, {'connected_gene': 'ENSG00000262837', 'score': 32.04}, {'connected_gene': 'RSAD1', 'score': 25.37}, {'connected_gene': 'UTP18', 'score': 19.75}, {'connected_gene': 'XYLT2', 'score': 15.29}, {'connected_gene': 'CHAD', 'score': 11.71}, {'connected_gene': 'ENSG00000253102', 'score': 11.48}, {'connected_gene': 'FAM117A', 'score': 11.47}, {'connected_gene': 'LRRC59', 'score': 11.31}, {'connected_gene': 'LUC7L3', 'score': 10.95}, {'connected_gene': 'CACNA1G-AS1', 'score': 10.43}, {'connected_gene': 'EPN3', 'score': 10.34}, {'connected_gene': 'MYCBPAP', 'score': 10.16}, {'connected_gene': 'FLJ45513', 'score': 10.15}, {'connected_gene': 'CACNA1G', 'score': 10.06}, {'connected_gene': 'ANKRD40', 'score': 4.9}, {'connected_gene': 'SLC35B1', 'score': 4.56}, {'connected_gene': 'MRPS21P9', 'score': 0.34}]
chr17 GH17I050539 50539620 50544514 1.72 [{'connected_gene': 'SPATA20', 'score': 587.92}, {'connected_gene': 'ENSG00000262837', 'score': 19.89}, {'connected_gene': 'MBTD1', 'score': 17.62}, {'connected_gene': 'LOC105371824', 'score': 13.58}, {'connected_gene': 'EPN3', 'score': 12.51}, {'connected_gene': 'FAM117A', 'score': 11.47}, {'connected_gene': 'UTP18', 'score': 10.77}, {'connected_gene': 'FLJ45513', 'score': 10.14}, {'connected_gene': 'XYLT2', 'score': 9.9}]
chr17 GH17I051152 51152247 51155110 2.17 [{'connected_gene': 'NME1', 'score': 587.63}, {'connected_gene': 'NME1-NME2', 'score': 550.77}, {'connected_gene': 'MBTD1', 'score': 97.87}, {'connected_gene': 'LUC7L3', 'score': 60.74}, {'connected_gene': 'UTP18', 'score': 35.06}, {'connected_gene': 'COL1A1', 'score': 27.89}, {'connected_gene': 'EME1', 'score': 21.22}, {'connected_gene': 'NME2', 'score': 19.81}, {'connected_gene': 'LOC105371824', 'score': 18.65}, {'connected_gene': 'CACNA1G-AS1', 'score': 13.09}, {'connected_gene': 'SPAG9', 'score': 13.03}, {'connected_gene': 'XYLT2', 'score': 9.85}]
chr17 GH17I051143 51143729 51145234 0.72 [{'connected_gene': 'NME1', 'score': 24.01}, {'connected_gene': 'UTP18', 'score': 6.71}, {'connected_gene': 'NME1-NME2', 'score': 0.44}, {'connected_gene': 'SPAG9', 'score': 0.34}]
chr17 GH17I051138 51138962 51140833 0.77 [{'connected_gene': 'NME1', 'score': 23.49}, {'connected_gene': 'UTP18', 'score': 4.76}, {'connected_gene': 'NME1-NME2', 'score': 0.39}, {'connected_gene': 'SPAG9', 'score': 0.37}]
chr17 GH17I051214 51214528 51215606 0.2 [{'connected_gene': 'NME1', 'score': 16.87}, {'connected_gene': 'UTP18', 'score': 11.99}, {'connected_gene': 'MBTD1', 'score': 11.99}, {'connected_gene': 'ENSG00000279089', 'score': 0.31}, {'connected_gene': 'ENSG00000264895', 'score': 0.28}]
chr17 GH17I050395 50395451 50398169 2.13 [{'connected_gene': 'LRRC59', 'score': 550.77}, {'connected_gene': 'ENSG00000253102', 'score': 550.77}, {'connected_gene': 'ENSG00000262837', 'score': 56.74}, {'connected_gene': 'MBTD1', 'score': 45.06}, {'connected_gene': 'LOC105371824', 'score': 31.59}, {'connected_gene': 'LUC7L3', 'score': 30.71}, {'connected_gene': 'CACNA1G-AS1', 'score': 22.11}, {'connected_gene': 'UTP18', 'score': 21.14}, {'connected_gene': 'FLJ45513', 'score': 20.93}, {'connected_gene': 'FAM117A', 'score': 20.37}, {'connected_gene': 'XYLT2', 'score': 18.52}, {'connected_gene': 'EIF4EP2', 'score': 16.92}, {'connected_gene': 'EME1', 'score': 16.67}, {'connected_gene': 'COL1A1', 'score': 10.62}, {'connected_gene': 'PICART1', 'score': 9.86}, {'connected_gene': 'ENSG00000249451', 'score': 9.79}, {'connected_gene': 'NXPH3', 'score': 9.75}, {'connected_gene': 'SAMD14', 'score': 9.74}, {'connected_gene': 'ANKRD40', 'score': 4.71}]
chr17 GH17I050342 50342849 50343333 0.64 [{'connected_gene': 'MBTD1', 'score': 69.75}, {'connected_gene': 'ENSG00000262837', 'score': 58.79}, {'connected_gene': 'LUC7L3', 'score': 31.07}, {'connected_gene': 'MYCBPAP', 'score': 14.81}, {'connected_gene': 'FAM117A', 'score': 13.94}, {'connected_gene': 'FLJ45513', 'score': 12.83}, {'connected_gene': 'KAT7', 'score': 10.85}, {'connected_gene': 'UTP18', 'score': 10.71}, {'connected_gene': 'SPATA20', 'score': 10.7}, {'connected_gene': 'TAC4', 'score': 10.52}, {'connected_gene': 'CACNA1G-AS1', 'score': 10.47}, {'connected_gene': 'ENSG00000249451', 'score': 5.6}, {'connected_gene': 'XYLT2', 'score': 0.77}, {'connected_gene': 'TMEM92-AS1', 'score': 0.22}]
chr17 GH17I050898 50898822 50899365 1.12 [{'connected_gene': 'MBTD1', 'score': 57.44}, {'connected_gene': 'LUC7L3', 'score': 32.21}, {'connected_gene': 'MYCBPAP', 'score': 14.76}, {'connected_gene': 'ENSG00000247011', 'score': 12.58}, {'connected_gene': 'ENSG00000251665', 'score': 12.58}, {'connected_gene': 'UTP18', 'score': 10.74}, {'connected_gene': 'SPATA20', 'score': 10.67}, {'connected_gene': 'CACNA1G-AS1', 'score': 10.45}, {'connected_gene': 'TOB1-AS1', 'score': 10.35}, {'connected_gene': 'LOC105371825', 'score': 0.44}, {'connected_gene': 'ENSG00000262006', 'score': 0.39}]
chr17 GH17I050718 50718909 50722165 2.29 [{'connected_gene': 'LUC7L3', 'score': 550.77}, {'connected_gene': 'ENSG00000278963', 'score': 550.77}, {'connected_gene': 'ENSG00000262837', 'score': 22.81}, {'connected_gene': 'MBTD1', 'score': 22.24}, {'connected_gene': 'ANKRD40', 'score': 20.61}, {'connected_gene': 'FAM117A', 'score': 13.93}, {'connected_gene': 'FLJ45513', 'score': 12.82}, {'connected_gene': 'UTP18', 'score': 12.59}, {'connected_gene': 'TAC4', 'score': 10.5}, {'connected_gene': 'ABCC3', 'score': 5.02}]
chr17 GH17I051112 51112380 51113409 1.12 [{'connected_gene': 'UTP18', 'score': 5.45}, {'connected_gene': 'SPAG9', 'score': 0.44}, {'connected_gene': 'ENSG00000249870', 'score': 0.19}]
chr17 GH17I051093 51093181 51094868 1.13 [{'connected_gene': 'UTP18', 'score': 8.94}, {'connected_gene': 'SPAG9', 'score': 0.31}, {'connected_gene': 'ENSG00000249870', 'score': 0.23}]
chr17 GH17I051146 51146260 51146429 0.79 [{'connected_gene': 'UTP18', 'score': 5.77}, {'connected_gene': 'NME1', 'score': 0.44}, {'connected_gene': 'NME1-NME2', 'score': 0.44}, {'connected_gene': 'SPAG9', 'score': 0.31}]
chr17 GH17I051147 51147001 51147229 0.77 [{'connected_gene': 'UTP18', 'score': 5.41}, {'connected_gene': 'NME1', 'score': 0.44}, {'connected_gene': 'NME1-NME2', 'score': 0.44}, {'connected_gene': 'SPAG9', 'score': 0.31}]
chr17 GH17I051237 51237880 51239049 0.72 [{'connected_gene': 'UTP18', 'score': 20.58}, {'connected_gene': 'NME1', 'score': 16.47}, {'connected_gene': 'MBTD1', 'score': 12.05}, {'connected_gene': 'ENSG00000264895', 'score': 0.39}, {'connected_gene': 'ENSG00000279089', 'score': 0.23}]
chr17 GH17I051274 51274830 51276333 0.49 [{'connected_gene': 'UTP18', 'score': 40.91}, {'connected_gene': 'NME1', 'score': 14.83}, {'connected_gene': 'GC17M051260', 'score': 0.37}, {'connected_gene': 'ENSG00000249982', 'score': 0.22}]
chr17 GH17I051257 51257262 51262434 2.1 [{'connected_gene': 'UTP18', 'score': 599.07}, {'connected_gene': 'MBTD1', 'score': 578.23}, {'connected_gene': 'GC17M051260', 'score': 550.77}, {'connected_gene': 'NME1', 'score': 16.81}, {'connected_gene': 'XYLT2', 'score': 9.85}, {'connected_gene': 'ENSG00000264895', 'score': 0.44}]
chr17 GH17I051247 51247250 51247467 0.22 [{'connected_gene': 'UTP18', 'score': 8.99}, {'connected_gene': 'MBTD1', 'score': 1.75}, {'connected_gene': 'ENSG00000264895', 'score': 0.77}, {'connected_gene': 'ENSG00000279089', 'score': 0.21}]
chr17 GH17I051200 51200088 51200603 0.2 [{'connected_gene': 'UTP18', 'score': 8.56}, {'connected_gene': 'ENSG00000279089', 'score': 0.39}, {'connected_gene': 'ENSG00000264895', 'score': 0.23}, {'connected_gene': 'MBTD1', 'score': 0.21}]
chr17 GH17I051342 51342567 51344150 0.38 [{'connected_gene': 'UTP18', 'score': 35.04}, {'connected_gene': 'NME2', 'score': 7.85}, {'connected_gene': 'NME1', 'score': 6.95}, {'connected_gene': 'LINC02072', 'score': 0.44}, {'connected_gene': 'LINC02073', 'score': 0.16}]
chr17 GH17I051354 51354500 51356619 0.49 [{'connected_gene': 'UTP18', 'score': 7.93}, {'connected_gene': 'NME2', 'score': 7.93}, {'connected_gene': 'LINC02072', 'score': 0.37}, {'connected_gene': 'LINC02073', 'score': 0.18}]
chr17 GH17I051262 51262467 51263295 0.43 [{'connected_gene': 'UTP18', 'score': 41.04}, {'connected_gene': 'NME2', 'score': 4.76}, {'connected_gene': 'GC17M051260', 'score': 0.77}, {'connected_gene': 'ENSG00000249982', 'score': 0.2}]
chr17 GH17I051353 51352353 51353887 0.2 [{'connected_gene': 'UTP18', 'score': 34.8}, {'connected_gene': 'LINC02072', 'score': 0.37}, {'connected_gene': 'LINC02073', 'score': 0.18}]
chr17 GH17I051345 51345022 51351008 0.8 [{'connected_gene': 'NME2', 'score': 17.18}, {'connected_gene': 'NME1', 'score': 6.95}, {'connected_gene': 'UTP18', 'score': 6.18}, {'connected_gene': 'LINC02072', 'score': 0.39}, {'connected_gene': 'LINC02073', 'score': 0.17}]
chr17 GH17I051164 51164931 51168432 2.09 [{'connected_gene': 'NME2', 'score': 585.75}, {'connected_gene': 'UTP18', 'score': 44.08}, {'connected_gene': 'MBTD1', 'score': 20.59}, {'connected_gene': 'LUC7L3', 'score': 16.97}, {'connected_gene': 'EME1', 'score': 12.07}, {'connected_gene': 'COL1A1', 'score': 10.11}, {'connected_gene': 'NME1-NME2', 'score': 0.39}, {'connected_gene': 'ENSG00000279089', 'score': 0.37}]
chr17 GH17I051335 51335044 51338690 0.62 [{'connected_gene': 'LINC02072', 'score': 550.77}, {'connected_gene': 'LINC02071', 'score': 550.77}, {'connected_gene': 'ENSG00000249658', 'score': 550.77}, {'connected_gene': 'UTP18', 'score': 33.12}, {'connected_gene': 'NME2', 'score': 8.57}, {'connected_gene': 'LINC02073', 'score': 0.15}]
chr17 GH17I050952 50952751 50953468 0.31 [{'connected_gene': 'WFIKKN2', 'score': 11.31}, {'connected_gene': 'NME1', 'score': 10.73}, {'connected_gene': 'NME1-NME2', 'score': 10.73}, {'connected_gene': 'NME2', 'score': 10.72}, {'connected_gene': 'UTP18', 'score': 6.87}, {'connected_gene': 'ENSG00000247011', 'score': 0.44}, {'connected_gene': 'ENSG00000249870', 'score': 0.17}]
chr17 GH17I051426 51426974 51430786 0.92 [{'connected_gene': 'LINC02073', 'score': 10.99}, {'connected_gene': 'UTP18', 'score': 1.5}, {'connected_gene': 'LINC02072', 'score': 0.16}]
chr17 GH17I051264 51264580 51264729 0.72 [{'connected_gene': 'LOC105371824', 'score': 20.63}, {'connected_gene': 'UTP18', 'score': 16.79}, {'connected_gene': 'GC17M051260', 'score': 0.77}, {'connected_gene': 'ENSG00000249982', 'score': 0.2}]
chr17 GH17I050659 50659555 50664404 1.47 [{'connected_gene': 'GC17P050663', 'score': 550.77}, {'connected_gene': 'ABCC3', 'score': 18.0}, {'connected_gene': 'ANKRD40', 'score': 16.99}, {'connected_gene': 'EME1', 'score': 12.11}, {'connected_gene': 'LOC101927253', 'score': 11.92}, {'connected_gene': 'UTP18', 'score': 11.03}, {'connected_gene': 'NME2', 'score': 10.77}, {'connected_gene': 'CACNA1G-AS1', 'score': 10.75}, {'connected_gene': 'CACNA1G', 'score': 10.74}, {'connected_gene': 'EPN3', 'score': 10.61}, {'connected_gene': 'SPATA20', 'score': 10.61}, {'connected_gene': 'LOC105371824', 'score': 10.61}, {'connected_gene': 'ACSF2', 'score': 10.61}, {'connected_gene': 'MYCBPAP', 'score': 10.53}, {'connected_gene': 'MBTD1', 'score': 10.47}, {'connected_gene': 'CHAD', 'score': 10.21}, {'connected_gene': 'WFIKKN2', 'score': 10.1}]
chr17 GH17I050914 50914572 50924619 1.74 [{'connected_gene': 'ENSG00000251665', 'score': 18.65}, {'connected_gene': 'ENSG00000247011', 'score': 18.07}, {'connected_gene': 'MBTD1', 'score': 11.75}, {'connected_gene': 'WFIKKN2', 'score': 10.89}, {'connected_gene': 'COL1A1', 'score': 10.11}, {'connected_gene': 'NME2', 'score': 6.75}, {'connected_gene': 'RSAD1', 'score': 3.39}, {'connected_gene': 'CHAD', 'score': 1.96}, {'connected_gene': 'TOB1', 'score': 1.87}, {'connected_gene': 'UTP18', 'score': 1.52}, {'connected_gene': 'ENSG00000262006', 'score': 0.44}]
chr17 GH17I051102 51102953 51104469 0.59 [{'connected_gene': 'ENSG00000249870', 'score': 11.55}, {'connected_gene': 'ENSG00000251665', 'score': 9.61}, {'connected_gene': 'UTP18', 'score': 6.01}, {'connected_gene': 'SPAG9', 'score': 0.37}]
chr17 GH17I051123 51123932 51127732 0.99 [{'connected_gene': 'ENSG00000249870', 'score': 11.81}, {'connected_gene': 'UTP18', 'score': 10.12}, {'connected_gene': 'NME1', 'score': 4.68}, {'connected_gene': 'SPAG9', 'score': 0.77}, {'connected_gene': 'NME1-NME2', 'score': 0.31}]

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