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
ENST00000344041 [[22157908, 22162139], [22165221, 22165276], [22170654, 22170719], [22175655, 22175743], [22176550, 22176601], [22179642, 22179733], [22184661, 22184840], [22186514, 22186637], [22190024, 22190122], [22194072, 22194222], [22196427, 22196506], [22197472, 22197503], [22200135, 22200233], [22202014, 22202159], [22206687, 22206766], [22232984, 22233073], [22233532, 22233651], [22259484, 22259610], [22270464, 22270538], [22306582, 22306631], [22330793, 22330860], [22347957, 22348126], [22349587, 22349709], [22354988, 22355095], [22357605, 22357656], [22396448, 22396533]] [[22162023, 22162139], [22165221, 22165276], [22170654, 22170719], [22175655, 22175743], [22176550, 22176601], [22179642, 22179733], [22184661, 22184840], [22186514, 22186637], [22190024, 22190122], [22194072, 22194222], [22196427, 22196506], [22197472, 22197503], [22200135, 22200233], [22202014, 22202159], [22206687, 22206766], [22232984, 22233073], [22233532, 22233651], [22259484, 22259610], [22270464, 22270538], [22306582, 22306631], [22330793, 22330860], [22347957, 22348126], [22349587, 22349639]]
ENST00000475788 [[22231056, 22231260], [22232984, 22233073], [22233532, 22233651], [22259484, 22259610], [22270464, 22270538], [22306582, 22306631], [22330793, 22330860]] None
ENST00000405243 [[22231794, 22233395], [22233532, 22233651], [22259484, 22259610], [22270464, 22270538], [22306582, 22306631], [22330793, 22330860], [22347957, 22348126], [22349587, 22349709], [22354988, 22355095], [22357605, 22357656], [22396448, 22396763]] [[22233307, 22233395], [22233532, 22233651], [22259484, 22259610], [22270464, 22270538], [22306582, 22306631], [22330793, 22330860], [22347957, 22348126], [22349587, 22349709], [22354988, 22355095], [22357605, 22357656], [22396448, 22396679]]
ENST00000401957 [[22157855, 22162139], [22165221, 22165276], [22170654, 22170719], [22175655, 22175743], [22176550, 22176601], [22179642, 22179733], [22184661, 22184840], [22186514, 22186637], [22190024, 22190122], [22194072, 22194222], [22196427, 22196506], [22197472, 22197503], [22200135, 22200233], [22202014, 22202159], [22206687, 22206766], [22232984, 22233527]] [[22162023, 22162139], [22165221, 22165276], [22170654, 22170719], [22175655, 22175743], [22176550, 22176601], [22179642, 22179733], [22184661, 22184840], [22186514, 22186637], [22190024, 22190122], [22194072, 22194222], [22196427, 22196506], [22197472, 22197503], [22200135, 22200233], [22202014, 22202159], [22206687, 22206766], [22232984, 22233279]]
ENST00000488366 [[22164849, 22165039], [22165221, 22165276], [22170654, 22170719], [22175655, 22175690]] None
ENST00000468825 [[22179374, 22179733], [22184661, 22184884]] None
ENST00000458533 [[22194187, 22194222], [22196427, 22196506], [22197472, 22197503], [22200135, 22200233], [22202014, 22202159], [22206687, 22206766], [22232984, 22233073], [22233532, 22233651], [22234187, 22234381]] [[22194187, 22194222], [22196427, 22196506], [22197472, 22197503], [22200135, 22200233], [22202014, 22202159], [22206687, 22206725]]
ENST00000451559 [[22197481, 22197503], [22200135, 22200233], [22202014, 22202159], [22206687, 22206766], [22231146, 22231260], [22232984, 22233362]] [[22231180, 22231260], [22232984, 22233279]]
ENST00000420196 [[22206687, 22206766], [22232984, 22233073], [22233532, 22233651], [22259484, 22259857]] [[22206687, 22206766], [22232984, 22233073], [22233532, 22233651], [22259484, 22259664]]
ENST00000471484 [[22348065, 22348126], [22349587, 22349709], [22354988, 22355095], [22357605, 22357656], [22395596, 22395844]] None
ENST00000497668 [[22395928, 22396230], [22396448, 22396529]] None
NM_012294 [[22157907, 22162139], [22165221, 22165276], [22170654, 22170719], [22175655, 22175743], [22176550, 22176601], [22179642, 22179733], [22184661, 22184840], [22186514, 22186637], [22190024, 22190122], [22194072, 22194222], [22196427, 22196506], [22197472, 22197503], [22200135, 22200233], [22202014, 22202159], [22206687, 22206766], [22232984, 22233073], [22233532, 22233651], [22259484, 22259610], [22270464, 22270538], [22306582, 22306631], [22330793, 22330860], [22347957, 22348126], [22349587, 22349709], [22354988, 22355095], [22357605, 22357656], [22396448, 22396533]] [[22162023, 22162139], [22165221, 22165276], [22170654, 22170719], [22175655, 22175743], [22176550, 22176601], [22179642, 22179733], [22184661, 22184840], [22186514, 22186637], [22190024, 22190122], [22194072, 22194222], [22196427, 22196506], [22197472, 22197503], [22200135, 22200233], [22202014, 22202159], [22206687, 22206766], [22232984, 22233073], [22233532, 22233651], [22259484, 22259610], [22270464, 22270538], [22306582, 22306631], [22330793, 22330860], [22347957, 22348126], [22349587, 22349639]]
Promoter
Chrom Start End Description
chr7 22233310 22233321 CAGE_peak_10_at_RAPGEF5_5end
chr7 22233347 22233369 CAGE_peak_1_at_RAPGEF5_5end
chr7 22233375 22233402 CAGE_peak_4_at_RAPGEF5_5end
chr7 22233403 22233423 CAGE_peak_8_at_RAPGEF5_5end
chr7 22233442 22233463 CAGE_peak_3_at_RAPGEF5_5end
chr7 22234327 22234332 CAGE_peak_18_at_RAPGEF5_5end
chr7 22234421 22234430 CAGE_peak_17_at_RAPGEF5_5end
chr7 22259740 22259751 CAGE_peak_19_at_RAPGEF5_5end
chr7 22259789 22259809 CAGE_peak_7_at_RAPGEF5_5end
chr7 22259826 22259838 CAGE_peak_11_at_RAPGEF5_5end
chr7 22259845 22259864 CAGE_peak_5_at_RAPGEF5_5end
chr7 22259867 22259876 CAGE_peak_13_at_RAPGEF5_5end
chr7 22396652 22396663 CAGE_peak_15_at_RAPGEF5_5end
chr7 22396671 22396690 CAGE_peak_12_at_RAPGEF5_5end
chr7 22396692 22396725 CAGE_peak_6_at_RAPGEF5_5end
chr7 22396727 22396787 CAGE_peak_2_at_RAPGEF5_5end
chr7 22396791 22396818 CAGE_peak_9_at_RAPGEF5_5end
chr7 22396829 22396835 CAGE_peak_14_at_RAPGEF5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I022441 22441254 22447442 1.64 [{'connected_gene': 'RAPGEF5', 'score': 4.83}, {'connected_gene': 'STEAP1B', 'score': 4.6}, {'connected_gene': 'RPL12P10', 'score': 4.3}, {'connected_gene': 'GC07P022403', 'score': 0.26}, {'connected_gene': 'GC07M022514', 'score': 0.2}]
chr7 GH07I022435 22435001 22435400 0.8 [{'connected_gene': 'RAPGEF5', 'score': 11.82}, {'connected_gene': 'GC07P022403', 'score': 0.29}, {'connected_gene': 'GC07M022514', 'score': 0.18}, {'connected_gene': 'STEAP1B', 'score': 0.08}]
chr7 GH07I022429 22429224 22434773 1.42 [{'connected_gene': 'RAPGEF5', 'score': 11.83}, {'connected_gene': 'NUPL2', 'score': 11.52}, {'connected_gene': 'AK3P3', 'score': 10.59}, {'connected_gene': 'RPL12P10', 'score': 4.43}, {'connected_gene': 'GC07P022403', 'score': 0.31}, {'connected_gene': 'GC07M022514', 'score': 0.18}, {'connected_gene': 'STEAP1B', 'score': 0.08}]
chr7 GH07I022248 22248137 22249208 0.2 [{'connected_gene': 'RAPGEF5', 'score': 7.84}, {'connected_gene': 'LOC105375184', 'score': 0.29}, {'connected_gene': 'RNA5SP227', 'score': 0.25}, {'connected_gene': 'GC07P022124', 'score': 0.13}]
chr7 GH07I022221 22221938 22224570 0.38 [{'connected_gene': 'RAPGEF5', 'score': 7.53}, {'connected_gene': 'ENSG00000226816', 'score': 5.11}, {'connected_gene': 'LOC105375184', 'score': 0.44}, {'connected_gene': 'RNA5SP227', 'score': 0.18}, {'connected_gene': 'GC07P022124', 'score': 0.15}]
chr7 GH07I022199 22199333 22206068 0.64 [{'connected_gene': 'RAPGEF5', 'score': 5.61}, {'connected_gene': 'LOC105375184', 'score': 0.39}, {'connected_gene': 'GC07P022124', 'score': 0.18}]
chr7 GH07I022208 22208467 22209048 0.2 [{'connected_gene': 'RAPGEF5', 'score': 5.02}, {'connected_gene': 'LOC105375184', 'score': 0.44}, {'connected_gene': 'GC07P022124', 'score': 0.18}]
chr7 GH07I022173 22173741 22175225 1.44 [{'connected_gene': 'RAPGEF5', 'score': 5.63}, {'connected_gene': 'LOC105375184', 'score': 0.26}, {'connected_gene': 'GC07P022124', 'score': 0.25}]
chr7 GH07I022194 22194752 22195281 0.43 [{'connected_gene': 'RAPGEF5', 'score': 5.64}, {'connected_gene': 'LOC105375184', 'score': 0.34}, {'connected_gene': 'GC07P022124', 'score': 0.19}]
chr7 GH07I022211 22211279 22211805 0.31 [{'connected_gene': 'RAPGEF5', 'score': 5.0}, {'connected_gene': 'LOC105375184', 'score': 0.77}, {'connected_gene': 'GC07P022124', 'score': 0.17}]
chr7 GH07I022180 22180104 22183210 0.31 [{'connected_gene': 'RAPGEF5', 'score': 5.61}, {'connected_gene': 'LOC105375184', 'score': 0.29}, {'connected_gene': 'GC07P022124', 'score': 0.22}]
chr7 GH07I022190 22190225 22191222 0.38 [{'connected_gene': 'RAPGEF5', 'score': 5.64}, {'connected_gene': 'LOC105375184', 'score': 0.34}, {'connected_gene': 'GC07P022124', 'score': 0.2}]
chr7 GH07I022209 22209643 22209792 0.4 [{'connected_gene': 'RAPGEF5', 'score': 4.51}, {'connected_gene': 'LOC105375184', 'score': 0.44}, {'connected_gene': 'GC07P022124', 'score': 0.18}]
chr7 GH07I022193 22193593 22194392 1.26 [{'connected_gene': 'RAPGEF5', 'score': 5.64}, {'connected_gene': 'LOC105375184', 'score': 0.34}, {'connected_gene': 'GC07P022124', 'score': 0.2}]
chr7 GH07I022273 22273557 22279294 0.31 [{'connected_gene': 'RAPGEF5', 'score': 5.54}, {'connected_gene': 'RNA5SP227', 'score': 0.34}, {'connected_gene': 'LOC105375184', 'score': 0.21}]
chr7 GH07I022279 22279400 22281389 0.2 [{'connected_gene': 'RAPGEF5', 'score': 7.38}, {'connected_gene': 'RNA5SP227', 'score': 0.37}, {'connected_gene': 'LOC105375184', 'score': 0.21}]
chr7 GH07I022288 22288590 22290552 0.43 [{'connected_gene': 'RAPGEF5', 'score': 5.14}, {'connected_gene': 'RNA5SP227', 'score': 0.44}, {'connected_gene': 'LOC105375184', 'score': 0.19}]
chr7 GH07I022269 22269532 22270636 0.74 [{'connected_gene': 'RAPGEF5', 'score': 6.62}, {'connected_gene': 'RNA5SP227', 'score': 0.31}, {'connected_gene': 'LOC105375184', 'score': 0.23}]
chr7 GH07I022290 22290703 22295139 0.31 [{'connected_gene': 'RAPGEF5', 'score': 18.54}, {'connected_gene': 'RNA5SP227', 'score': 0.44}, {'connected_gene': 'LOC105375184', 'score': 0.18}]
chr7 GH07I022255 22255257 22256558 0.58 [{'connected_gene': 'RAPGEF5', 'score': 6.26}, {'connected_gene': 'RNA5SP227', 'score': 0.26}, {'connected_gene': 'LOC105375184', 'score': 0.26}]
chr7 GH07I022331 22331782 22333078 0.74 [{'connected_gene': 'RAPGEF5', 'score': 17.95}, {'connected_gene': 'RNA5SP227', 'score': 0.29}]
chr7 GH07I022329 22329122 22331448 1.02 [{'connected_gene': 'RAPGEF5', 'score': 0.31}, {'connected_gene': 'RNA5SP227', 'score': 0.29}]
chr7 GH07I022302 22301402 22301631 0.43 [{'connected_gene': 'RAPGEF5', 'score': 4.98}, {'connected_gene': 'RNA5SP227', 'score': 0.77}]
chr7 GH07I022348 22348601 22348800 0.72 [{'connected_gene': 'RAPGEF5', 'score': 0.44}, {'connected_gene': 'RNA5SP227', 'score': 0.23}]
chr7 GH07I022301 22301867 22302479 0.96 [{'connected_gene': 'RAPGEF5', 'score': 17.44}, {'connected_gene': 'RNA5SP227', 'score': 0.77}]
chr7 GH07I022325 22325856 22327468 0.52 [{'connected_gene': 'RAPGEF5', 'score': 8.53}, {'connected_gene': 'RNA5SP227', 'score': 0.31}]
chr7 GH07I022349 22349386 22352781 1.41 [{'connected_gene': 'RAPGEF5', 'score': 7.58}, {'connected_gene': 'RNA5SP227', 'score': 0.23}]
chr7 GH07I022346 22346820 22347027 0.86 [{'connected_gene': 'RAPGEF5', 'score': 0.39}, {'connected_gene': 'RNA5SP227', 'score': 0.25}]
chr7 GH07I022333 22333202 22334258 0.66 [{'connected_gene': 'RAPGEF5', 'score': 18.11}, {'connected_gene': 'RNA5SP227', 'score': 0.28}]
chr7 GH07I022347 22346422 22346651 1.09 [{'connected_gene': 'RAPGEF5', 'score': 0.39}, {'connected_gene': 'RNA5SP227', 'score': 0.25}]
chr7 GH07I022313 22313989 22314048 0.5 [{'connected_gene': 'RAPGEF5', 'score': 550.26}, {'connected_gene': 'RNA5SP227', 'score': 0.37}]
chr7 GH07I022355 22355446 22360313 2.39 [{'connected_gene': 'RAPGEF5', 'score': 562.33}, {'connected_gene': 'GC07P022403', 'score': 0.25}]
chr7 GH07I022372 22372902 22373388 0.68 [{'connected_gene': 'RAPGEF5', 'score': 0.37}, {'connected_gene': 'GC07P022403', 'score': 0.31}]
chr7 GH07I022369 22369805 22369868 0.22 [{'connected_gene': 'RAPGEF5', 'score': 0.39}, {'connected_gene': 'GC07P022403', 'score': 0.29}]
chr7 GH07I022363 22363954 22364266 0.24 [{'connected_gene': 'RAPGEF5', 'score': 5.24}, {'connected_gene': 'GC07P022403', 'score': 0.28}]
chr7 GH07I022361 22361882 22362111 0.56 [{'connected_gene': 'RAPGEF5', 'score': 0.77}, {'connected_gene': 'GC07P022403', 'score': 0.26}]
chr7 GH07I022378 22378201 22378401 0.79 [{'connected_gene': 'RAPGEF5', 'score': 12.06}, {'connected_gene': 'GC07P022403', 'score': 0.34}]
chr7 GH07I022118 22118879 22121493 0.6 [{'connected_gene': 'SP4', 'score': 4.28}, {'connected_gene': 'GC07P022124', 'score': 0.77}, {'connected_gene': 'LOC102724143', 'score': 0.44}, {'connected_gene': 'RAPGEF5', 'score': 0.07}]
chr7 GH07I022213 22213148 22221435 1.8 [{'connected_gene': 'LOC105375184', 'score': 550.77}, {'connected_gene': 'RAPGEF5', 'score': 7.71}, {'connected_gene': 'RNA5SP227', 'score': 0.18}, {'connected_gene': 'GC07P022124', 'score': 0.16}]
chr7 GH07I022184 22184721 22185431 0.63 [{'connected_gene': 'LOC105375184', 'score': 0.29}, {'connected_gene': 'GC07P022124', 'score': 0.21}, {'connected_gene': 'RAPGEF5', 'score': 0.09}]
chr7 GH07I022179 22179727 22179959 0.78 [{'connected_gene': 'LOC105375184', 'score': 0.28}, {'connected_gene': 'GC07P022124', 'score': 0.23}, {'connected_gene': 'RAPGEF5', 'score': 0.1}]
chr7 GH07I022210 22210482 22210671 0.66 [{'connected_gene': 'LOC105375184', 'score': 0.44}, {'connected_gene': 'GC07P022124', 'score': 0.17}, {'connected_gene': 'RAPGEF5', 'score': 0.11}]
chr7 GH07I022196 22196212 22197810 0.46 [{'connected_gene': 'LOC105375184', 'score': 0.37}, {'connected_gene': 'GC07P022124', 'score': 0.19}, {'connected_gene': 'RAPGEF5', 'score': 0.1}]
chr7 GH07I022188 22188970 22190016 0.31 [{'connected_gene': 'LOC105375184', 'score': 0.31}, {'connected_gene': 'GC07P022124', 'score': 0.21}, {'connected_gene': 'RAPGEF5', 'score': 0.1}]
chr7 GH07I022115 22115629 22118510 0.31 [{'connected_gene': 'LOC102724143', 'score': 0.77}, {'connected_gene': 'GC07P022124', 'score': 0.44}, {'connected_gene': 'RAPGEF5', 'score': 0.07}]
chr7 GH07I022298 22298090 22298100 0.22 [{'connected_gene': 'RNA5SP227', 'score': 550.77}, {'connected_gene': 'RAPGEF5', 'score': 0.22}, {'connected_gene': 'LOC105375184', 'score': 0.18}]
chr7 GH07I022295 22295671 22297704 0.57 [{'connected_gene': 'RNA5SP227', 'score': 550.77}, {'connected_gene': 'RAPGEF5', 'score': 0.21}, {'connected_gene': 'LOC105375184', 'score': 0.18}]
chr7 GH07I022299 22299770 22299957 0.22 [{'connected_gene': 'RNA5SP227', 'score': 550.77}, {'connected_gene': 'RAPGEF5', 'score': 3.39}]
chr7 GH07I022271 22271579 22272190 0.2 [{'connected_gene': 'RNA5SP227', 'score': 0.31}, {'connected_gene': 'LOC105375184', 'score': 0.22}, {'connected_gene': 'RAPGEF5', 'score': 0.17}]
chr7 GH07I022401 22401722 22401871 0.57 [{'connected_gene': 'GC07P022403', 'score': 550.77}, {'connected_gene': 'RAPGEF5', 'score': 0.26}]
chr7 GH07I022402 22402502 22402651 0.31 [{'connected_gene': 'GC07P022403', 'score': 550.77}, {'connected_gene': 'RAPGEF5', 'score': 0.25}]
chr7 GH07I022152 22152975 22154687 0.72 [{'connected_gene': 'GC07P022124', 'score': 0.31}, {'connected_gene': 'LOC105375184', 'score': 0.21}, {'connected_gene': 'RAPGEF5', 'score': 0.08}]
chr7 GH07I022155 22155883 22156913 0.83 [{'connected_gene': 'GC07P022124', 'score': 0.29}, {'connected_gene': 'LOC105375184', 'score': 0.22}, {'connected_gene': 'RAPGEF5', 'score': 0.08}]
chr7 GH07I022126 22126978 22134304 0.49 [{'connected_gene': 'GC07P022124', 'score': 0.44}, {'connected_gene': 'LOC105375184', 'score': 0.18}, {'connected_gene': 'RAPGEF5', 'score': 0.07}]
chr7 GH07I022146 22146665 22147569 0.52 [{'connected_gene': 'GC07P022124', 'score': 0.34}, {'connected_gene': 'LOC105375184', 'score': 0.2}, {'connected_gene': 'RAPGEF5', 'score': 0.08}]
chr7 GH07I022136 22136604 22142168 0.63 [{'connected_gene': 'GC07P022124', 'score': 0.39}, {'connected_gene': 'LOC105375184', 'score': 0.18}, {'connected_gene': 'RAPGEF5', 'score': 0.08}]
chr7 GH07I022144 22144328 22145674 0.2 [{'connected_gene': 'GC07P022124', 'score': 0.34}, {'connected_gene': 'LOC105375184', 'score': 0.19}, {'connected_gene': 'RAPGEF5', 'score': 0.08}]
chr7 GH07I022166 22166498 22167531 0.64 [{'connected_gene': 'GC07P022124', 'score': 0.26}, {'connected_gene': 'LOC105375184', 'score': 0.25}, {'connected_gene': 'RAPGEF5', 'score': 0.08}]
chr7 GH07I022147 22147727 22151493 0.38 [{'connected_gene': 'GC07P022124', 'score': 0.34}, {'connected_gene': 'LOC105375184', 'score': 0.2}, {'connected_gene': 'RAPGEF5', 'score': 0.08}]
chr7 GH07I022170 22170109 22170919 0.2 [{'connected_gene': 'GC07P022124', 'score': 0.25}, {'connected_gene': 'LOC105375184', 'score': 0.25}, {'connected_gene': 'RAPGEF5', 'score': 0.09}]
chr7 GH07I022157 22157316 22158040 0.2 [{'connected_gene': 'GC07P022124', 'score': 0.29}, {'connected_gene': 'LOC105375184', 'score': 0.22}, {'connected_gene': 'RAPGEF5', 'score': 0.08}]
chr7 GH07I022143 22143470 22144093 0.2 [{'connected_gene': 'GC07P022124', 'score': 0.37}, {'connected_gene': 'LOC105375184', 'score': 0.19}, {'connected_gene': 'RAPGEF5', 'score': 0.08}]
chr7 GH07I022121 22121724 22124170 1.45 [{'connected_gene': 'GC07P022124', 'score': 0.77}, {'connected_gene': 'LOC102724143', 'score': 0.39}, {'connected_gene': 'RAPGEF5', 'score': 0.07}]

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