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
ENST00000532462 [[51324608, 51324887], [51374988, 51375055], [51375538, 51375673], [51376612, 51376820], [51378447, 51378589], [51378695, 51378754], [51378873, 51379021], [51379746, 51379848], [51381418, 51381533], [51382053, 51382217], [51382542, 51382689], [51383359, 51383452], [51383679, 51383823], [51387258, 51387341], [51387673, 51387785], [51390686, 51390818], [51398390, 51398494], [51401824, 51401903], [51404453, 51404555], [51410878, 51411174]] [[51324806, 51324887], [51374988, 51375055], [51375538, 51375673], [51376612, 51376820], [51378447, 51378589], [51378695, 51378754], [51378873, 51379021], [51379746, 51379848], [51381418, 51381533], [51382053, 51382217], [51382542, 51382689], [51383359, 51383452], [51383679, 51383823], [51387258, 51387341], [51387673, 51387785], [51390686, 51390818], [51398390, 51398494], [51401824, 51401903], [51404453, 51404555], [51410878, 51411121]]
ENST00000544180 [[51371935, 51372274], [51374988, 51375055], [51375538, 51375673], [51376612, 51376820], [51378447, 51378589], [51378695, 51378754], [51378873, 51379021], [51379746, 51379848], [51381418, 51381533], [51382053, 51382217], [51382542, 51382689], [51383359, 51383452], [51383679, 51383823], [51387258, 51387341], [51387673, 51387785], [51390686, 51390818], [51398390, 51398494], [51401824, 51401903], [51410878, 51411201]] [[51372109, 51372274], [51374988, 51375055], [51375538, 51375673], [51376612, 51376820], [51378447, 51378589], [51378695, 51378754], [51378873, 51379021], [51379746, 51379848], [51381418, 51381533], [51382053, 51382217], [51382542, 51382689], [51383359, 51383452], [51383679, 51383823], [51387258, 51387341], [51387673, 51387785], [51390686, 51390818], [51398390, 51398494], [51401824, 51401903], [51410878, 51411121]]
ENST00000216392 [[51371938, 51372274], [51374988, 51375055], [51375538, 51375673], [51376612, 51376820], [51378447, 51378589], [51378695, 51378754], [51378873, 51379021], [51379746, 51379848], [51381418, 51381533], [51382053, 51382217], [51382542, 51382689], [51383359, 51383452], [51383679, 51383823], [51387258, 51387341], [51387673, 51387785], [51390686, 51390818], [51398390, 51398494], [51401824, 51401903], [51404453, 51404555], [51410878, 51411454]] [[51372109, 51372274], [51374988, 51375055], [51375538, 51375673], [51376612, 51376820], [51378447, 51378589], [51378695, 51378754], [51378873, 51379021], [51379746, 51379848], [51381418, 51381533], [51382053, 51382217], [51382542, 51382689], [51383359, 51383452], [51383679, 51383823], [51387258, 51387341], [51387673, 51387785], [51390686, 51390818], [51398390, 51398494], [51401824, 51401903], [51404453, 51404555], [51410878, 51411121]]
ENST00000532107 [[51374859, 51375055], [51375538, 51375673], [51376612, 51376820], [51378447, 51378589], [51378695, 51378698]] None
ENST00000528757 [[51381907, 51382217], [51382542, 51382658]] None
ENST00000553872 [[51383733, 51383823], [51387258, 51387341], [51387673, 51388246]] None
ENST00000530336 [[51389954, 51390818], [51398390, 51398494], [51401824, 51401903], [51404453, 51404555], [51410878, 51411188]] None
NM_002863 [[51371934, 51372274], [51374988, 51375055], [51375538, 51375673], [51376612, 51376820], [51378447, 51378589], [51378695, 51378754], [51378873, 51379021], [51379746, 51379848], [51381418, 51381533], [51382053, 51382217], [51382542, 51382689], [51383359, 51383452], [51383679, 51383823], [51387258, 51387341], [51387673, 51387785], [51390686, 51390818], [51398390, 51398494], [51401824, 51401903], [51404453, 51404555], [51410878, 51411248]] [[51372109, 51372274], [51374988, 51375055], [51375538, 51375673], [51376612, 51376820], [51378447, 51378589], [51378695, 51378754], [51378873, 51379021], [51379746, 51379848], [51381418, 51381533], [51382053, 51382217], [51382542, 51382689], [51383359, 51383452], [51383679, 51383823], [51387258, 51387341], [51387673, 51387785], [51390686, 51390818], [51398390, 51398494], [51401824, 51401903], [51404453, 51404555], [51410878, 51411121]]
NM_001163940 [[51371934, 51372274], [51374988, 51375055], [51375538, 51375673], [51376612, 51376820], [51378447, 51378589], [51378695, 51378754], [51378873, 51379021], [51379746, 51379848], [51381418, 51381533], [51382053, 51382217], [51382542, 51382689], [51383359, 51383452], [51383679, 51383823], [51387258, 51387341], [51387673, 51387785], [51390686, 51390818], [51398390, 51398494], [51401824, 51401903], [51410878, 51411248]] [[51372109, 51372274], [51374988, 51375055], [51375538, 51375673], [51376612, 51376820], [51378447, 51378589], [51378695, 51378754], [51378873, 51379021], [51379746, 51379848], [51381418, 51381533], [51382053, 51382217], [51382542, 51382689], [51383359, 51383452], [51383679, 51383823], [51387258, 51387341], [51387673, 51387785], [51390686, 51390818], [51398390, 51398494], [51401824, 51401903], [51410878, 51411121]]
Promoter
Chrom Start End Description
chr14 51411127 51411145 CAGE_peak_3_at_PYGL_5end
chr14 51411146 51411175 CAGE_peak_2_at_PYGL_5end
chr14 51411194 51411209 CAGE_peak_1_at_PYGL_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I050892 50892363 50892512 0.75 [{'connected_gene': 'PYGL', 'score': 34.21}, {'connected_gene': 'NIN', 'score': 9.94}, {'connected_gene': 'ENSG00000258745', 'score': 0.37}, {'connected_gene': 'ABHD12B', 'score': 0.34}]
chr14 GH14I050935 50935720 50939352 1.13 [{'connected_gene': 'PYGL', 'score': 14.54}, {'connected_gene': 'NIN', 'score': 9.38}, {'connected_gene': 'LOC105370492', 'score': 0.44}, {'connected_gene': 'MRPL57P9', 'score': 0.37}]
chr14 GH14I050940 50940777 50941706 0.43 [{'connected_gene': 'PYGL', 'score': 15.22}, {'connected_gene': 'NIN', 'score': 4.29}, {'connected_gene': 'LOC105370492', 'score': 0.77}, {'connected_gene': 'MRPL57P9', 'score': 0.34}]
chr14 GH14I050925 50925560 50929270 1.07 [{'connected_gene': 'PYGL', 'score': 25.53}, {'connected_gene': 'ABHD12B', 'score': 10.68}, {'connected_gene': 'NIN', 'score': 10.4}, {'connected_gene': 'MRPL57P9', 'score': 0.44}, {'connected_gene': 'LOC105370492', 'score': 0.37}]
chr14 GH14I050896 50896816 50898964 0.31 [{'connected_gene': 'PYGL', 'score': 53.96}, {'connected_gene': 'ABHD12B', 'score': 15.9}, {'connected_gene': 'NIN', 'score': 9.83}, {'connected_gene': 'ENSG00000258745', 'score': 0.39}]
chr14 GH14I050919 50919901 50921435 0.89 [{'connected_gene': 'PYGL', 'score': 12.3}, {'connected_gene': 'ABHD12B', 'score': 4.89}, {'connected_gene': 'MRPL57P9', 'score': 0.77}, {'connected_gene': 'LOC105370492', 'score': 0.34}]
chr14 GH14I051657 51657035 51659808 0.46 [{'connected_gene': 'PYGL', 'score': 5.35}, {'connected_gene': 'FRMD6-AS1', 'score': 0.44}, {'connected_gene': 'RNA5SP385', 'score': 0.29}, {'connected_gene': 'FRMD6', 'score': 0.1}]
chr14 GH14I051018 51018059 51021720 0.63 [{'connected_gene': 'PYGL', 'score': 10.59}, {'connected_gene': 'TRIM9', 'score': 6.88}, {'connected_gene': 'GC14P050964', 'score': 0.22}, {'connected_gene': 'ENSG00000259055', 'score': 0.2}]
chr14 GH14I050999 50999000 51001080 0.49 [{'connected_gene': 'PYGL', 'score': 10.63}, {'connected_gene': 'TRIM9', 'score': 7.52}, {'connected_gene': 'GC14P050964', 'score': 0.28}, {'connected_gene': 'ENSG00000259055', 'score': 0.17}]
chr14 GH14I050993 50993306 50993665 0.22 [{'connected_gene': 'PYGL', 'score': 10.65}, {'connected_gene': 'TRIM9', 'score': 5.25}, {'connected_gene': 'GC14P050964', 'score': 0.31}, {'connected_gene': 'ENSG00000259055', 'score': 0.15}]
chr14 GH14I050997 50997453 50998284 0.51 [{'connected_gene': 'PYGL', 'score': 10.64}, {'connected_gene': 'GC14P050964', 'score': 0.29}, {'connected_gene': 'ENSG00000259055', 'score': 0.16}, {'connected_gene': 'TRIM9', 'score': 0.15}]
chr14 GH14I050985 50985601 50985800 0.4 [{'connected_gene': 'PYGL', 'score': 9.98}, {'connected_gene': 'GC14P050964', 'score': 0.34}, {'connected_gene': 'ENSG00000259055', 'score': 0.15}, {'connected_gene': 'TRIM9', 'score': 0.14}]
chr14 GH14I050986 50985903 50986072 0.4 [{'connected_gene': 'PYGL', 'score': 9.98}, {'connected_gene': 'GC14P050964', 'score': 0.34}, {'connected_gene': 'ENSG00000259055', 'score': 0.15}, {'connected_gene': 'TRIM9', 'score': 0.14}]
chr14 GH14I050987 50986223 50986292 0.4 [{'connected_gene': 'PYGL', 'score': 9.98}, {'connected_gene': 'GC14P050964', 'score': 0.34}, {'connected_gene': 'ENSG00000259055', 'score': 0.15}, {'connected_gene': 'TRIM9', 'score': 0.14}]
chr14 GH14I050943 50943087 50945592 2.2 [{'connected_gene': 'PYGL', 'score': 565.88}, {'connected_gene': 'LOC105370492', 'score': 550.77}, {'connected_gene': 'NIN', 'score': 6.48}, {'connected_gene': 'MRPL57P9', 'score': 0.31}]
chr14 GH14I051706 51706123 51708159 0.31 [{'connected_gene': 'PYGL', 'score': 5.01}, {'connected_gene': 'RNA5SP385', 'score': 0.39}, {'connected_gene': 'GC14P051725', 'score': 0.37}, {'connected_gene': 'FRMD6', 'score': 0.08}]
chr14 GH14I051710 51710059 51712322 0.2 [{'connected_gene': 'PYGL', 'score': 4.99}, {'connected_gene': 'GC14P051725', 'score': 0.39}, {'connected_gene': 'RNA5SP385', 'score': 0.37}, {'connected_gene': 'FRMD6', 'score': 0.07}]
chr14 GH14I050967 50967732 50968400 0.47 [{'connected_gene': 'PYGL', 'score': 10.81}, {'connected_gene': 'GC14P050964', 'score': 0.77}, {'connected_gene': 'ENSG00000259055', 'score': 0.13}]
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 GH14I050865 50865428 50866260 0.31 [{'connected_gene': 'NIN', 'score': 11.83}, {'connected_gene': 'PYGL', 'score': 10.07}, {'connected_gene': 'ABHD12B', 'score': 6.99}, {'connected_gene': 'LOC105370491', 'score': 0.44}, {'connected_gene': 'ENSG00000258687', 'score': 0.37}]
chr14 GH14I050819 50819395 50819478 0.67 [{'connected_gene': 'NIN', 'score': 8.49}, {'connected_gene': 'PYGL', 'score': 5.79}, {'connected_gene': 'LOC105370489', 'score': 0.77}, {'connected_gene': 'GC14M050675', 'score': 0.17}]
chr14 GH14I050961 50961138 50962788 0.96 [{'connected_gene': 'LOC400212', 'score': 557.82}, {'connected_gene': 'PYGL', 'score': 5.15}]
chr14 GH14I050874 50874653 50876046 1.08 [{'connected_gene': 'ABHD12B', 'score': 0.77}, {'connected_gene': 'ENSG00000258745', 'score': 0.28}, {'connected_gene': 'PYGL', 'score': 0.2}]
chr14 GH14I050883 50883103 50883252 0.62 [{'connected_gene': 'ABHD12B', 'score': 0.39}, {'connected_gene': 'ENSG00000258745', 'score': 0.31}, {'connected_gene': 'PYGL', 'score': 0.21}]
chr14 GH14I050871 50871801 50872545 0.81 [{'connected_gene': 'ABHD12B', 'score': 550.77}, {'connected_gene': 'NIN', 'score': 10.88}, {'connected_gene': 'ENSG00000258745', 'score': 0.26}, {'connected_gene': 'PYGL', 'score': 0.19}]
chr14 GH14I051004 51004417 51007713 1.29 [{'connected_gene': 'TRIM9', 'score': 7.35}, {'connected_gene': 'PYGL', 'score': 4.71}, {'connected_gene': 'GC14P050964', 'score': 0.26}, {'connected_gene': 'ENSG00000259055', 'score': 0.18}]
chr14 GH14I051663 51663590 51668488 0.38 [{'connected_gene': 'RNU6-301P', 'score': 10.23}, {'connected_gene': 'PYGL', 'score': 5.07}, {'connected_gene': 'FRMD6-AS1', 'score': 0.39}, {'connected_gene': 'RNA5SP385', 'score': 0.31}, {'connected_gene': 'FRMD6', 'score': 0.1}]
chr14 GH14I051673 51673360 51678126 0.86 [{'connected_gene': 'RNU6-301P', 'score': 10.56}, {'connected_gene': 'PYGL', 'score': 5.06}, {'connected_gene': 'RNA5SP385', 'score': 0.37}, {'connected_gene': 'FRMD6-AS1', 'score': 0.34}, {'connected_gene': 'FRMD6', 'score': 0.09}]
chr14 GH14I051698 51698679 51701001 0.2 [{'connected_gene': 'RNU6-301P', 'score': 11.02}, {'connected_gene': 'PYGL', 'score': 5.03}, {'connected_gene': 'RNA5SP385', 'score': 0.44}, {'connected_gene': 'GC14P051725', 'score': 0.34}, {'connected_gene': 'FRMD6', 'score': 0.08}]
chr14 GH14I050859 50859201 50861252 1.14 [{'connected_gene': 'LOC105370491', 'score': 550.77}, {'connected_gene': 'NIN', 'score': 12.1}, {'connected_gene': 'PYGL', 'score': 10.24}, {'connected_gene': 'MAP4K5', 'score': 9.79}, {'connected_gene': 'ATL1', 'score': 9.78}, {'connected_gene': 'ABHD12B', 'score': 6.44}, {'connected_gene': 'ENSG00000258687', 'score': 0.39}]
chr14 GH14I050650 50650355 50651936 0.94 [{'connected_gene': 'PIR38584', 'score': 550.77}, {'connected_gene': 'SAV1', 'score': 8.48}, {'connected_gene': 'CDKL1', 'score': 6.34}, {'connected_gene': 'PYGL', 'score': 4.46}, {'connected_gene': 'GC14M050641', 'score': 0.39}, {'connected_gene': 'PIR58064', 'score': 0.39}]
chr14 GH14I050845 50845999 50847287 0.63 [{'connected_gene': 'ENSG00000258687', 'score': 550.77}, {'connected_gene': 'PYGL', 'score': 10.32}, {'connected_gene': 'L2HGDH', 'score': 4.29}, {'connected_gene': 'ENSG00000252945', 'score': 0.77}, {'connected_gene': 'LOC105370491', 'score': 0.39}]
chr14 GH14I050964 50964269 50965736 0.73 [{'connected_gene': 'GC14P050964', 'score': 550.77}, {'connected_gene': 'PYGL', 'score': 11.49}, {'connected_gene': 'LOC400212', 'score': 7.16}, {'connected_gene': 'ENSG00000259055', 'score': 0.13}]
chr14 GH14I050910 50910469 50911871 0.66 [{'connected_gene': 'ENSG00000258745', 'score': 550.77}, {'connected_gene': 'PYGL', 'score': 9.88}, {'connected_gene': 'ABHD12B', 'score': 0.28}]
chr14 GH14I051084 51084414 51087038 0.74 [{'connected_gene': 'ENSG00000259055', 'score': 23.34}, {'connected_gene': 'PYGL', 'score': 10.12}, {'connected_gene': 'TRIM9', 'score': 0.39}, {'connected_gene': 'GC14P050964', 'score': 0.13}]
chr14 GH14I050954 50954362 50956512 1.1 [{'connected_gene': 'ENSG00000201376', 'score': 9.92}, {'connected_gene': 'LOC400212', 'score': 9.28}, {'connected_gene': 'PYGL', 'score': 4.73}]

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