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
ENST00000395834 [[50796309, 50796899], [50798979, 50799150], [50801282, 50801339], [50805664, 50805747], [50807749, 50807950], [50808849, 50808940], [50811703, 50811776], [50825745, 50825867], [50862418, 50862617]] [[50796791, 50796899], [50798979, 50799150], [50801282, 50801339], [50805664, 50805747], [50807749, 50807950], [50808849, 50808940], [50811703, 50811776], [50825745, 50825867], [50862418, 50862589]]
ENST00000216378 [[50798644, 50799410], [50801282, 50801339], [50805664, 50805747], [50807749, 50807950], [50808849, 50808940], [50811703, 50811776], [50825745, 50825867], [50862418, 50863047], [50863935, 50864122]] [[50799377, 50799410], [50801282, 50801339], [50805664, 50805747], [50807749, 50807950], [50808849, 50808940], [50811703, 50811776], [50825745, 50825867], [50862418, 50862589]]
ENST00000356146 [[50802710, 50802938], [50805664, 50805747], [50807749, 50807950], [50808849, 50808940], [50809623, 50809776], [50824741, 50824862], [50825745, 50825867], [50828903, 50829112], [50829607, 50829755], [50843054, 50843137], [50844258, 50844447], [50844894, 50845150], [50846822, 50846950], [50856846, 50856902], [50856994, 50857170], [50862418, 50862642], [50863775, 50863999], [50864303, 50864354], [50877163, 50877366], [50883143, 50883179]] None
ENST00000531052 [[50823777, 50823983], [50825745, 50825867], [50862418, 50862794]] None
ENST00000525911 [[50796829, 50796899], [50801282, 50801339], [50805664, 50805747]] [[50796829, 50796899], [50801282, 50801339], [50805664, 50805747]]
ENST00000534267 [[50798643, 50799150], [50801282, 50801339], [50805664, 50805747], [50807749, 50807847]] [[50798967, 50799150], [50801282, 50801339], [50805664, 50805747], [50807749, 50807847]]
ENST00000542671 [[50805663, 50805747], [50807749, 50807950], [50808849, 50808940], [50809097, 50809208]] None
ENST00000529347 [[50807755, 50807950], [50808849, 50809327]] None
ENST00000528197 [[50807889, 50807950], [50808849, 50808940], [50811703, 50811776], [50825745, 50825867], [50829938, 50830032], [50830562, 50830694]] None
ENST00000530553 [[50862875, 50863047], [50863460, 50863599]] None
ENST00000534566 [[50862918, 50863047], [50863541, 50863604]] None
NM_004196 [[50796308, 50796899], [50798979, 50799150], [50801282, 50801339], [50805664, 50805747], [50807749, 50807950], [50808849, 50808940], [50811703, 50811776], [50825745, 50825867], [50862418, 50862642]] [[50796791, 50796899], [50798979, 50799150], [50801282, 50801339], [50805664, 50805747], [50807749, 50807950], [50808849, 50808940], [50811703, 50811776], [50825745, 50825867], [50862418, 50862589]]
NM_001282236 [[50798643, 50799410], [50801282, 50801339], [50805664, 50805747], [50807749, 50807950], [50808849, 50808940], [50811703, 50811776], [50825745, 50825867], [50862418, 50863047], [50863935, 50864122]] [[50799377, 50799410], [50801282, 50801339], [50805664, 50805747], [50807749, 50807950], [50808849, 50808940], [50811703, 50811776], [50825745, 50825867], [50862418, 50862589]]
Promoter
Chrom Start End Description
chr14 50863137 50863143 CAGE_peak_25_at_CDKL1_5end
chr14 50863591 50863645 CAGE_peak_1_at_CDKL1_5end
chr14 50864006 50864025 CAGE_peak_3_at_CDKL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I050402 50402700 50404212 0.58 [{'connected_gene': 'CDKL1', 'score': 12.02}, {'connected_gene': 'ATL1', 'score': 10.75}, {'connected_gene': 'MAP4K5', 'score': 10.73}, {'connected_gene': 'LOC105370487', 'score': 0.44}]
chr14 GH14I050543 50543003 50543132 0.72 [{'connected_gene': 'CDKL1', 'score': 10.38}, {'connected_gene': 'ATL1', 'score': 0.39}, {'connected_gene': 'MAP4K5', 'score': 0.37}]
chr14 GH14I050540 50540676 50541927 0.46 [{'connected_gene': 'CDKL1', 'score': 10.38}, {'connected_gene': 'ATL1', 'score': 0.44}, {'connected_gene': 'MAP4K5', 'score': 0.37}]
chr14 GH14I050506 50506331 50507517 0.38 [{'connected_gene': 'CDKL1', 'score': 16.22}, {'connected_gene': 'ATL1', 'score': 0.31}, {'connected_gene': 'LOC100419913', 'score': 0.28}, {'connected_gene': 'MAP4K5', 'score': 0.23}]
chr14 GH14I050725 50725839 50727492 0.46 [{'connected_gene': 'CDKL1', 'score': 10.25}, {'connected_gene': 'NIN', 'score': 9.48}, {'connected_gene': 'SAV1', 'score': 4.54}, {'connected_gene': 'ENSG00000270062', 'score': 0.77}, {'connected_gene': 'GC14M050675', 'score': 0.77}]
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 GH14I050459 50459543 50459624 0.24 [{'connected_gene': 'CDKL1', 'score': 3.5}, {'connected_gene': 'MAP4K5', 'score': 2.89}, {'connected_gene': 'ATL1', 'score': 2.77}, {'connected_gene': 'GC14M050470', 'score': 0.44}, {'connected_gene': 'ENSG00000201573', 'score': 0.44}, {'connected_gene': 'ENSG00000259113', 'score': 0.39}]
chr14 GH14I050501 50501145 50502908 0.38 [{'connected_gene': 'CDKL1', 'score': 10.34}, {'connected_gene': 'MAP4K5', 'score': 7.57}, {'connected_gene': 'LOC100419913', 'score': 0.29}, {'connected_gene': 'ATL1', 'score': 0.29}]
chr14 GH14I050441 50441545 50442432 0.72 [{'connected_gene': 'CDKL1', 'score': 11.68}, {'connected_gene': 'ENSG00000259113', 'score': 0.44}, {'connected_gene': 'MAP4K5', 'score': 0.13}]
chr14 GH14I050395 50395431 50398469 1.95 [{'connected_gene': 'CDKL1', 'score': 563.19}, {'connected_gene': 'LOC105370487', 'score': 550.77}, {'connected_gene': 'MAP4K5', 'score': 18.85}, {'connected_gene': 'VCPKMT', 'score': 10.92}, {'connected_gene': 'ATL1', 'score': 10.74}]
chr14 GH14I050346 50346001 50346200 0.51 [{'connected_gene': 'CDKL1', 'score': 5.26}, {'connected_gene': 'GC14M050342', 'score': 0.77}, {'connected_gene': 'GC14M050341', 'score': 0.77}, {'connected_gene': 'LOC105370487', 'score': 0.23}]
chr14 GH14I050360 50360943 50360992 0.2 [{'connected_gene': 'CDKL1', 'score': 11.86}, {'connected_gene': 'GC14M050342', 'score': 0.37}, {'connected_gene': 'GC14M050341', 'score': 0.37}, {'connected_gene': 'LOC105370487', 'score': 0.28}]
chr14 GH14I050338 50338373 50339394 0.2 [{'connected_gene': 'VCPKMT', 'score': 13.3}, {'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': 'GC14M050342', 'score': 0.77}, {'connected_gene': 'GC14M050341', 'score': 0.77}, {'connected_gene': 'GC14P050330', 'score': 0.44}]
chr14 GH14I050737 50737078 50737194 0.98 [{'connected_gene': 'ATL1', 'score': 11.76}, {'connected_gene': 'SAV1', 'score': 11.45}, {'connected_gene': 'CDKL1', 'score': 10.44}, {'connected_gene': 'MAP4K5', 'score': 10.31}, {'connected_gene': 'NIN', 'score': 9.81}, {'connected_gene': 'GC14M050675', 'score': 0.44}, {'connected_gene': 'LOC105370489', 'score': 0.18}]
chr14 GH14I050503 50503617 50505215 0.31 [{'connected_gene': 'ATL1', 'score': 11.9}, {'connected_gene': 'MAP4K5', 'score': 11.81}, {'connected_gene': 'CDKL1', 'score': 11.53}, {'connected_gene': 'NIN', 'score': 9.4}, {'connected_gene': 'LOC100419913', 'score': 0.29}]
chr14 GH14I050599 50599875 50599907 0.48 [{'connected_gene': 'ATL1', 'score': 13.84}, {'connected_gene': 'MAP4K5', 'score': 10.94}, {'connected_gene': 'TRIM9', 'score': 2.59}, {'connected_gene': 'CDKL1', 'score': 1.27}, {'connected_gene': 'SNRPGP1', 'score': 0.31}, {'connected_gene': 'RN7SL452P', 'score': 0.28}]
chr14 GH14I050399 50399800 50400001 0.52 [{'connected_gene': 'ATL1', 'score': 10.74}, {'connected_gene': 'MAP4K5', 'score': 10.72}, {'connected_gene': 'LOC105370487', 'score': 0.77}, {'connected_gene': 'CDKL1', 'score': 0.37}]
chr14 GH14I050401 50401703 50401892 0.49 [{'connected_gene': 'ATL1', 'score': 10.74}, {'connected_gene': 'MAP4K5', 'score': 10.73}, {'connected_gene': 'LOC105370487', 'score': 0.44}, {'connected_gene': 'CDKL1', 'score': 0.39}]
chr14 GH14I050734 50734993 50735982 0.52 [{'connected_gene': 'SAV1', 'score': 11.45}, {'connected_gene': 'CDKL1', 'score': 10.45}, {'connected_gene': 'MAP4K5', 'score': 10.31}, {'connected_gene': 'ATL1', 'score': 10.3}, {'connected_gene': 'NIN', 'score': 9.8}, {'connected_gene': 'GC14M050675', 'score': 0.44}, {'connected_gene': 'LOC105370489', 'score': 0.17}]
chr14 GH14I050665 50665200 50671073 2.24 [{'connected_gene': 'SAV1', 'score': 566.29}, {'connected_gene': 'TMX1', 'score': 13.27}, {'connected_gene': 'POLE2', 'score': 10.48}, {'connected_gene': 'VCPKMT', 'score': 10.47}, {'connected_gene': 'MAP4K5', 'score': 7.36}, {'connected_gene': 'CDKL1', 'score': 5.58}, {'connected_gene': 'GC14M050664', 'score': 0.77}, {'connected_gene': 'GC14P050662', 'score': 0.44}]
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 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 GH14I050520 50520326 50522805 1.51 [{'connected_gene': 'MAP4K5', 'score': 17.99}, {'connected_gene': 'CDKL1', 'score': 10.39}, {'connected_gene': 'ATL1', 'score': 0.39}, {'connected_gene': 'LOC100419913', 'score': 0.25}]
chr14 GH14I050523 50523430 50525294 1.02 [{'connected_gene': 'MAP4K5', 'score': 10.3}, {'connected_gene': 'CDKL1', 'score': 9.89}, {'connected_gene': 'ATL1', 'score': 0.44}, {'connected_gene': 'LOC100419913', 'score': 0.23}]
chr14 GH14I050499 50499722 50501058 0.43 [{'connected_gene': 'MAP4K5', 'score': 17.85}, {'connected_gene': 'CDKL1', 'score': 10.88}, {'connected_gene': 'ATL1', 'score': 10.81}, {'connected_gene': 'LOC100419913', 'score': 0.31}]
chr14 GH14I050509 50509038 50517475 0.46 [{'connected_gene': 'MAP4K5', 'score': 18.31}, {'connected_gene': 'CDKL1', 'score': 11.52}, {'connected_gene': 'SAV1', 'score': 10.11}, {'connected_gene': 'NIN', 'score': 9.47}, {'connected_gene': 'ATL1', 'score': 0.37}, {'connected_gene': 'LOC100419913', 'score': 0.26}]
chr14 GH14I050411 50411043 50411192 0.2 [{'connected_gene': 'MAP4K5', 'score': 8.15}, {'connected_gene': 'CDKL1', 'score': 0.44}, {'connected_gene': 'LOC105370487', 'score': 0.39}]
chr14 GH14I050528 50528191 50534112 2.23 [{'connected_gene': 'MAP4K5', 'score': 555.86}, {'connected_gene': 'ATL1', 'score': 550.77}, {'connected_gene': 'CDKL1', 'score': 15.43}, {'connected_gene': 'SAV1', 'score': 11.27}, {'connected_gene': 'ENSG00000259113', 'score': 4.82}, {'connected_gene': 'LOC100419913', 'score': 0.22}]
chr14 GH14I050496 50496759 50499364 0.2 [{'connected_gene': 'MAP4K5', 'score': 18.34}, {'connected_gene': 'ATL1', 'score': 11.32}, {'connected_gene': 'CDKL1', 'score': 11.27}, {'connected_gene': 'SAV1', 'score': 4.95}, {'connected_gene': 'LOC100419913', 'score': 0.31}]
chr14 GH14I050600 50600000 50602118 1.08 [{'connected_gene': 'MAP4K5', 'score': 10.94}, {'connected_gene': 'ATL1', 'score': 10.86}, {'connected_gene': 'CDKL1', 'score': 5.09}, {'connected_gene': 'SNRPGP1', 'score': 0.31}, {'connected_gene': 'RN7SL452P', 'score': 0.28}]
chr14 GH14I050675 50675030 50678895 1.42 [{'connected_gene': 'MAP4K5', 'score': 18.01}, {'connected_gene': 'ATL1', 'score': 10.2}, {'connected_gene': 'NIN', 'score': 9.49}, {'connected_gene': 'CDKL1', 'score': 6.09}, {'connected_gene': 'SAV1', 'score': 0.44}, {'connected_gene': 'GC14P050697', 'score': 0.34}, {'connected_gene': 'GC14M050675', 'score': 0.23}]
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 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 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}]
chr14 GH14I050446 50446614 50448152 0.77 [{'connected_gene': 'ENSG00000259113', 'score': 555.08}, {'connected_gene': 'KLHDC1', 'score': 26.38}, {'connected_gene': 'NEMF', 'score': 19.21}, {'connected_gene': 'CDKL1', 'score': 12.59}, {'connected_gene': 'ATL1', 'score': 11.33}, {'connected_gene': 'MAP4K5', 'score': 11.29}, {'connected_gene': 'DNAAF2', 'score': 9.72}]
chr14 GH14I050350 50350542 50351535 0.71 [{'connected_gene': 'GC14M050342', 'score': 0.44}, {'connected_gene': 'GC14M050341', 'score': 0.44}, {'connected_gene': 'LOC105370487', 'score': 0.25}, {'connected_gene': 'CDKL1', 'score': 0.2}]

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