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
ENST00000554438 [[50779043, 50779107], [50788200, 50788312], [50789228, 50789437], [50790662, 50790834], [50792326, 50793777]] None
ENST00000245448 [[50779046, 50779778], [50788200, 50788312], [50789228, 50789437], [50792326, 50792944]] [[50779738, 50779778], [50788200, 50788312], [50789228, 50789437], [50792326, 50792349]]
ENST00000557421 [[50779047, 50779107], [50788200, 50788312], [50789228, 50789437], [50792326, 50792446]] None
ENST00000555939 [[50779052, 50779107], [50788200, 50788312], [50789228, 50789437], [50790662, 50790834], [50791264, 50791424]] None
ENST00000426751 [[50779101, 50779778], [50788200, 50788312], [50789228, 50789610]] [[50779738, 50779778], [50788200, 50788312], [50789228, 50789487]]
ENST00000554204 [[50779277, 50779778], [50781308, 50781344], [50788200, 50788312], [50789228, 50789437], [50792326, 50792944]] [[50779738, 50779778], [50781308, 50781313]]
ENST00000311459 [[50779358, 50779778], [50788200, 50788312], [50789228, 50789437], [50790662, 50790834], [50792326, 50792705]] [[50779738, 50779778], [50788200, 50788312], [50789228, 50789437], [50790662, 50790834], [50792326, 50792441]]
ENST00000358473 [[50785951, 50786019], [50789228, 50789437], [50790662, 50790834], [50792326, 50792363], [50798739, 50798954], [50802176, 50802276]] [[50785951, 50786019], [50789228, 50789437], [50790662, 50790834], [50792326, 50792363], [50798739, 50798954], [50802176, 50802276]]
ENST00000554951 [[50788036, 50788094], [50788200, 50788312], [50789228, 50789437], [50790662, 50790834], [50792326, 50792395]] None
ENST00000553774 [[50788250, 50788312], [50789228, 50789524], [50790662, 50790834]] None
ENST00000556962 [[50789259, 50789437], [50790662, 50791009]] None
NM_015684 [[50779046, 50779778], [50788200, 50788312], [50789228, 50789743]] [[50779738, 50779778], [50788200, 50788312], [50789228, 50789487]]
NM_001003805 [[50779046, 50779778], [50788200, 50788312], [50789228, 50789437], [50792326, 50792960]] [[50779738, 50779778], [50788200, 50788312], [50789228, 50789437], [50792326, 50792349]]
NM_001003803 [[50779046, 50779778], [50788200, 50788312], [50789228, 50789437], [50790662, 50790834], [50792326, 50792960]] [[50779738, 50779778], [50788200, 50788312], [50789228, 50789437], [50790662, 50790834], [50792326, 50792441]]
NR_033761 [[50779046, 50779778], [50781308, 50781344], [50788200, 50788312], [50789228, 50789437], [50790662, 50790834], [50792326, 50792960]] None
Promoter
Chrom Start End Description
chr14 50779029 50779066 CAGE_peak_1_at_ATP5S_5end
chr14 50779071 50779097 CAGE_peak_2_at_ATP5S_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I050356 50356914 50359500 0.49 [{'connected_gene': 'CDKL1', 'score': 16.37}, {'connected_gene': 'ATP5S', 'score': 15.4}, {'connected_gene': 'ATL1', 'score': 10.64}, {'connected_gene': 'MAP4K5', 'score': 10.62}, {'connected_gene': 'SOS2', 'score': 9.55}, {'connected_gene': 'NIN', 'score': 8.63}, {'connected_gene': 'GC14M050342', 'score': 0.37}, {'connected_gene': 'GC14M050341', 'score': 0.37}, {'connected_gene': 'LOC105370487', 'score': 0.28}]
chr14 GH14I050342 50342050 50345132 1.33 [{'connected_gene': 'CDKL1', 'score': 27.4}, {'connected_gene': 'ATP5S', 'score': 15.58}, {'connected_gene': 'ATL1', 'score': 11.64}, {'connected_gene': 'MAP4K5', 'score': 11.63}, {'connected_gene': 'NIN', 'score': 9.04}, {'connected_gene': 'GC14M050342', 'score': 0.77}, {'connected_gene': 'GC14M050341', 'score': 0.77}, {'connected_gene': 'LOC105370487', 'score': 0.23}]
chr14 GH14I050387 50387624 50390294 0.71 [{'connected_gene': 'CDKL1', 'score': 9.62}, {'connected_gene': 'ATP5S', 'score': 5.81}, {'connected_gene': 'LOC105370487', 'score': 0.44}, {'connected_gene': 'GC14M050342', 'score': 0.25}, {'connected_gene': 'GC14M050341', 'score': 0.25}]
chr14 GH14I050347 50347300 50348561 1.15 [{'connected_gene': 'CDKL1', 'score': 15.98}, {'connected_gene': 'ATP5S', 'score': 15.37}, {'connected_gene': 'GC14M050342', 'score': 0.44}, {'connected_gene': 'GC14M050341', 'score': 0.44}, {'connected_gene': 'LOC105370487', 'score': 0.25}]
chr14 GH14I050115 50115388 50117732 2.24 [{'connected_gene': 'VCPKMT', 'score': 584.25}, {'connected_gene': 'RHOQP1', 'score': 11.26}, {'connected_gene': 'LRR1', 'score': 10.5}, {'connected_gene': 'ENSG00000270062', 'score': 10.3}, {'connected_gene': 'ATP5S', 'score': 6.17}, {'connected_gene': 'LINC01588', 'score': 0.34}, {'connected_gene': 'LINC01599', 'score': 0.34}, {'connected_gene': 'SOS2', 'score': 0.13}]
chr14 GH14I050059 50059583 50066522 1.77 [{'connected_gene': 'VCPKMT', 'score': 23.64}, {'connected_gene': 'LINC01588', 'score': 15.6}, {'connected_gene': 'KLHDC2', 'score': 12.81}, {'connected_gene': 'RNU6-189P', 'score': 10.71}, {'connected_gene': 'ATP5S', 'score': 8.74}, {'connected_gene': 'ARF6', 'score': 3.33}, {'connected_gene': 'RPL36AL', 'score': 2.15}, {'connected_gene': 'GC14P050069', 'score': 0.44}, {'connected_gene': 'RPS15AP2', 'score': 0.39}]
chr14 GH14I049969 49969069 49984538 1.71 [{'connected_gene': 'VCPKMT', 'score': 25.07}, {'connected_gene': 'LINC01588', 'score': 20.33}, {'connected_gene': 'RNU6-189P', 'score': 11.94}, {'connected_gene': 'RPL36AL', 'score': 6.4}, {'connected_gene': 'ARF6', 'score': 3.54}, {'connected_gene': 'NEMF', 'score': 3.1}, {'connected_gene': 'DNAAF2', 'score': 2.17}, {'connected_gene': 'ATP5S', 'score': 1.61}, {'connected_gene': 'RPS29', 'score': 1.59}, {'connected_gene': 'SOS2', 'score': 1.26}, {'connected_gene': 'GC14M049974', 'score': 0.77}, {'connected_gene': 'GC14M049971', 'score': 0.77}, {'connected_gene': 'GC14P049970', 'score': 0.44}, {'connected_gene': 'LOC105370485', 'score': 0.39}]
chr14 GH14I050057 50057118 50059491 0.51 [{'connected_gene': 'VCPKMT', 'score': 20.59}, {'connected_gene': 'LINC01588', 'score': 11.83}, {'connected_gene': 'RNU6-189P', 'score': 10.72}, {'connected_gene': 'ATP5S', 'score': 10.18}, {'connected_gene': 'RPS15AP2', 'score': 0.44}, {'connected_gene': 'GC14P050069', 'score': 0.39}]
chr14 GH14I050112 50112510 50114281 0.66 [{'connected_gene': 'VCPKMT', 'score': 25.38}, {'connected_gene': 'ATP5S', 'score': 8.65}, {'connected_gene': 'LINC01588', 'score': 0.34}, {'connected_gene': 'LINC01599', 'score': 0.34}]
chr14 GH14I050103 50103800 50105712 1.04 [{'connected_gene': 'VCPKMT', 'score': 25.0}, {'connected_gene': 'ATP5S', 'score': 6.66}, {'connected_gene': 'LINC01588', 'score': 0.39}, {'connected_gene': 'LINC01599', 'score': 0.39}]
chr14 GH14I050114 50114743 50114892 0.4 [{'connected_gene': 'VCPKMT', 'score': 550.77}, {'connected_gene': 'ATP5S', 'score': 4.47}, {'connected_gene': 'LINC01588', 'score': 0.34}, {'connected_gene': 'LINC01599', 'score': 0.34}]
chr14 GH14I050095 50095379 50097671 0.95 [{'connected_gene': 'VCPKMT', 'score': 16.33}, {'connected_gene': 'RNU6-189P', 'score': 10.69}, {'connected_gene': 'SOS2', 'score': 10.38}, {'connected_gene': 'ATP5S', 'score': 9.71}, {'connected_gene': 'RPL36AL', 'score': 2.42}, {'connected_gene': 'ARF6', 'score': 2.11}, {'connected_gene': 'LINC01588', 'score': 1.97}, {'connected_gene': 'NEMF', 'score': 1.82}, {'connected_gene': 'DNAAF2', 'score': 1.6}, {'connected_gene': 'LINC01599', 'score': 0.77}]
chr14 GH14I050229 50229474 50233632 2 [{'connected_gene': 'SOS2', 'score': 550.77}, {'connected_gene': 'VCPKMT', 'score': 24.32}, {'connected_gene': 'ATP5S', 'score': 22.2}, {'connected_gene': 'LOC105370486', 'score': 0.22}]
chr14 GH14I050043 50043277 50048586 1.67 [{'connected_gene': 'LINC01588', 'score': 14.78}, {'connected_gene': 'VCPKMT', 'score': 11.31}, {'connected_gene': 'ATP5S', 'score': 6.27}, {'connected_gene': 'ARF6', 'score': 5.69}, {'connected_gene': 'ENSG00000259071', 'score': 5.22}, {'connected_gene': 'RPL36AL', 'score': 2.23}, {'connected_gene': 'SOS2', 'score': 1.5}, {'connected_gene': 'PDLIM1P1', 'score': 0.77}, {'connected_gene': 'GC14M050001', 'score': 0.26}]
chr14 GH14I050055 50055963 50056801 0.78 [{'connected_gene': 'LINC01588', 'score': 11.81}, {'connected_gene': 'VCPKMT', 'score': 11.22}, {'connected_gene': 'RNU6-189P', 'score': 10.72}, {'connected_gene': 'ATP5S', 'score': 10.01}, {'connected_gene': 'SOS2', 'score': 4.88}, {'connected_gene': 'RPS15AP2', 'score': 0.77}, {'connected_gene': 'GC14P050069', 'score': 0.39}]
chr14 GH14I050090 50090424 50092429 0.49 [{'connected_gene': 'LINC01588', 'score': 550.77}, {'connected_gene': 'LINC01599', 'score': 550.77}, {'connected_gene': 'VCPKMT', 'score': 23.84}, {'connected_gene': 'ATP5S', 'score': 9.07}, {'connected_gene': 'ENSG00000251792', 'score': 0.77}]
chr14 GH14I050334 50334460 50336944 1.16 [{'connected_gene': 'ATP5S', 'score': 29.55}, {'connected_gene': 'CDKL1', 'score': 15.69}, {'connected_gene': 'ATL1', 'score': 11.06}, {'connected_gene': 'MAP4K5', 'score': 11.05}, {'connected_gene': 'SOS2', 'score': 10.44}, {'connected_gene': 'GC14P050330', 'score': 0.44}, {'connected_gene': 'GC14M050342', 'score': 0.44}, {'connected_gene': 'GC14M050341', 'score': 0.44}]
chr14 GH14I050311 50311148 50313511 2.03 [{'connected_gene': 'ATP5S', 'score': 583.92}, {'connected_gene': 'L2HGDH', 'score': 550.77}, {'connected_gene': 'VCPKMT', 'score': 20.49}, {'connected_gene': 'RHOQP1', 'score': 11.25}, {'connected_gene': 'LRR1', 'score': 10.5}, {'connected_gene': 'ENSG00000270062', 'score': 10.32}, {'connected_gene': 'SOS2', 'score': 7.78}]
chr14 GH14I050110 50110352 50111392 0.38 [{'connected_gene': 'ATP5S', 'score': 6.72}, {'connected_gene': 'VCPKMT', 'score': 0.44}, {'connected_gene': 'LINC01588', 'score': 0.37}, {'connected_gene': 'LINC01599', 'score': 0.37}]
chr14 GH14I050237 50237201 50238000 0.31 [{'connected_gene': 'ATP5S', 'score': 11.08}, {'connected_gene': 'SOS2', 'score': 0.44}, {'connected_gene': 'MIR4504', 'score': 0.21}, {'connected_gene': 'L2HGDH', 'score': 0.19}]
chr14 GH14I050332 50332583 50333600 0.82 [{'connected_gene': 'ATP5S', 'score': 31.26}, {'connected_gene': 'ATL1', 'score': 11.06}, {'connected_gene': 'MAP4K5', 'score': 11.05}, {'connected_gene': 'GC14P050330', 'score': 0.77}, {'connected_gene': 'GC14M050342', 'score': 0.44}, {'connected_gene': 'GC14M050341', 'score': 0.44}, {'connected_gene': 'CDKL1', 'score': 0.18}]
chr14 GH14I050319 50319040 50322539 1.7 [{'connected_gene': 'ATP5S', 'score': 33.59}, {'connected_gene': 'KLHDC2', 'score': 12.37}, {'connected_gene': 'NEMF', 'score': 10.62}, {'connected_gene': 'SAV1', 'score': 10.58}, {'connected_gene': 'MAP4K5', 'score': 10.15}, {'connected_gene': 'CDKL1', 'score': 4.5}, {'connected_gene': 'PIR33272', 'score': 0.77}, {'connected_gene': 'L2HGDH', 'score': 0.44}]
chr14 GH14I050362 50362837 50367201 1.58 [{'connected_gene': 'MAP4K5', 'score': 15.68}, {'connected_gene': 'ATP5S', 'score': 12.18}, {'connected_gene': 'CDKL1', 'score': 11.87}, {'connected_gene': 'ATL1', 'score': 11.11}, {'connected_gene': 'GC14M050342', 'score': 0.34}, {'connected_gene': 'GC14M050341', 'score': 0.34}, {'connected_gene': 'LOC105370487', 'score': 0.29}]
chr14 GH14I050303 50303863 50304052 0.92 [{'connected_gene': 'MIR4504', 'score': 0.77}, {'connected_gene': 'ATP5S', 'score': 0.44}, {'connected_gene': 'L2HGDH', 'score': 0.44}]
chr14 GH14I049997 49997251 50009919 1.81 [{'connected_gene': 'GC14M050001', 'score': 550.77}, {'connected_gene': 'VCPKMT', 'score': 15.59}, {'connected_gene': 'LINC01588', 'score': 13.49}, {'connected_gene': 'RNU6-189P', 'score': 11.95}, {'connected_gene': 'ARF6', 'score': 2.07}, {'connected_gene': 'RPL36AL', 'score': 1.51}, {'connected_gene': 'ATP5S', 'score': 1.33}, {'connected_gene': 'L2HGDH', 'score': 1.32}, {'connected_gene': 'RPS29', 'score': 1.26}, {'connected_gene': 'PDLIM1P1', 'score': 0.25}]
chr14 GH14I050080 50080660 50089596 1.57 [{'connected_gene': 'GC14P050088', 'score': 550.77}, {'connected_gene': 'ENSG00000251792', 'score': 550.77}, {'connected_gene': 'VCPKMT', 'score': 40.33}, {'connected_gene': 'RNU6-189P', 'score': 11.14}, {'connected_gene': 'DNAAF2', 'score': 10.72}, {'connected_gene': 'ATP5S', 'score': 9.0}, {'connected_gene': 'LINC01588', 'score': 4.03}, {'connected_gene': 'ARF6', 'score': 2.81}, {'connected_gene': 'KLHDC2', 'score': 2.48}, {'connected_gene': 'NEMF', 'score': 2.04}, {'connected_gene': 'SOS2', 'score': 1.96}, {'connected_gene': 'KLHDC1', 'score': 1.55}, {'connected_gene': 'RPL36AL', 'score': 1.44}, {'connected_gene': 'RPS29', 'score': 1.42}, {'connected_gene': 'LINC01599', 'score': 0.44}, {'connected_gene': 'RN7SKP193', 'score': 0.37}]
chr14 GH14I050339 50339960 50340736 0.2 [{'connected_gene': 'GC14M050342', 'score': 550.77}, {'connected_gene': 'GC14M050341', 'score': 550.77}, {'connected_gene': 'ATP5S', 'score': 27.64}, {'connected_gene': 'CDKL1', 'score': 11.67}, {'connected_gene': 'ATL1', 'score': 11.64}, {'connected_gene': 'MAP4K5', 'score': 11.63}, {'connected_gene': 'NIN', 'score': 9.03}, {'connected_gene': 'GC14P050330', 'score': 0.39}]

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