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
ENST00000228825 [[110872629, 110873022], [110873914, 110874009], [110874361, 110874488], [110874888, 110874957], [110878116, 110878193], [110883256, 110883356], [110888059, 110888212]] [[110872959, 110873022], [110873914, 110874009], [110874361, 110874488], [110874888, 110874957], [110878116, 110878193], [110883256, 110883356], [110888059, 110888065]]
ENST00000426440 [[110873982, 110874009], [110874469, 110874488], [110874888, 110874957], [110878116, 110878193], [110883256, 110883356], [110888059, 110888116]] [[110873982, 110874009], [110874469, 110874488], [110874888, 110874957], [110878116, 110878193], [110883256, 110883356], [110888059, 110888065]]
ENST00000548878 [[110874539, 110874957], [110883256, 110883356], [110888059, 110888073]] None
ENST00000471641 [[110880448, 110880872], [110883256, 110883356], [110888059, 110888090]] None
ENST00000475777 [[110882687, 110883356], [110888059, 110888227]] None
ENST00000467622 [[110872714, 110873022], [110873914, 110874488], [110874888, 110875104]] None
ENST00000476566 [[110874391, 110874488], [110874888, 110874957], [110878116, 110878312]] None
ENST00000547365 [[110874462, 110874488], [110874888, 110874957], [110878116, 110878193], [110883256, 110883392]] [[110874462, 110874488], [110874888, 110874957], [110878116, 110878193], [110883256, 110883338]]
ENST00000549408 [[110882873, 110883048], [110883256, 110883290]] None
NM_001278556 [[110872694, 110873022], [110873914, 110874009], [110874361, 110874488], [110874888, 110874957], [110878116, 110878193], [110883256, 110883356], [110888059, 110888216]] [[110872959, 110873022], [110873914, 110874009], [110874361, 110874488], [110874888, 110874957], [110878116, 110878193], [110883256, 110883356], [110888059, 110888065]]
NM_001287222 [[110872694, 110873022], [110873914, 110874006], [110874361, 110874488], [110874888, 110874957], [110878116, 110878193], [110883256, 110883356], [110888059, 110888216]] [[110872959, 110873022], [110873914, 110874006], [110874361, 110874488], [110874888, 110874957], [110878116, 110878193], [110883256, 110883356], [110888059, 110888065]]
Promoter
Chrom Start End Description
chr12 110883346 110883368 CAGE_peak_2_at_ARPC3_5end
chr12 110888103 110888172 CAGE_peak_1_at_ARPC3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I109997 109997305 110006561 2.32 [{'connected_gene': 'ANKRD13A', 'score': 561.1}, {'connected_gene': 'RNU4-32P', 'score': 23.82}, {'connected_gene': 'FAM216A', 'score': 20.48}, {'connected_gene': 'ARPC3', 'score': 17.28}, {'connected_gene': 'IFT81', 'score': 11.76}, {'connected_gene': 'GLTP', 'score': 7.06}, {'connected_gene': 'GIT2', 'score': 6.64}, {'connected_gene': 'C12orf76', 'score': 5.57}, {'connected_gene': 'ENSG00000280426', 'score': 0.77}, {'connected_gene': 'ENSG00000277595', 'score': 0.29}]
chr12 GH12I110667 110667456 110673709 1.5 [{'connected_gene': 'HVCN1', 'score': 561.83}, {'connected_gene': 'ARPC3', 'score': 17.14}, {'connected_gene': 'ATXN2', 'score': 15.3}, {'connected_gene': 'IFT81', 'score': 13.78}, {'connected_gene': 'TCTN1', 'score': 11.76}, {'connected_gene': 'FAM216A', 'score': 10.34}, {'connected_gene': 'RN7SL387P', 'score': 0.26}]
chr12 GH12I110604 110604968 110606849 1.38 [{'connected_gene': 'HVCN1', 'score': 14.07}, {'connected_gene': 'ARPC3', 'score': 11.29}, {'connected_gene': 'PPTC7', 'score': 7.14}, {'connected_gene': 'TCTN1', 'score': 0.44}]
chr12 GH12I109475 109475585 109478601 2.29 [{'connected_gene': 'KCTD10', 'score': 576.68}, {'connected_gene': 'UBE3B', 'score': 570.86}, {'connected_gene': 'IFT81', 'score': 39.67}, {'connected_gene': 'ALKBH2', 'score': 38.97}, {'connected_gene': 'SART3', 'score': 28.87}, {'connected_gene': 'RNU4-32P', 'score': 21.91}, {'connected_gene': 'FAM216A', 'score': 20.46}, {'connected_gene': 'USP30', 'score': 19.83}, {'connected_gene': 'ARPC3', 'score': 12.87}, {'connected_gene': 'ANKRD13A', 'score': 10.36}, {'connected_gene': 'MYO1H', 'score': 7.99}, {'connected_gene': 'ENSG00000255655', 'score': 0.31}]
chr12 GH12I110658 110658950 110659870 0.46 [{'connected_gene': 'TCTN1', 'score': 12.54}, {'connected_gene': 'FAM216A', 'score': 10.96}, {'connected_gene': 'ARPC3', 'score': 10.52}, {'connected_gene': 'GPN3', 'score': 8.34}, {'connected_gene': 'RN7SL387P', 'score': 0.29}, {'connected_gene': 'HVCN1', 'score': 0.25}]
chr12 GH12I110499 110499048 110503028 2.13 [{'connected_gene': 'VPS29', 'score': 550.77}, {'connected_gene': 'RAD9B', 'score': 550.77}, {'connected_gene': 'ENSG00000278993', 'score': 550.77}, {'connected_gene': 'IFT81', 'score': 51.74}, {'connected_gene': 'ARPC3', 'score': 23.57}, {'connected_gene': 'FAM216A', 'score': 23.52}, {'connected_gene': 'ANAPC7', 'score': 19.92}, {'connected_gene': 'GPN3', 'score': 11.53}, {'connected_gene': 'RNU4-32P', 'score': 10.98}, {'connected_gene': 'HSPA8P14', 'score': 10.97}, {'connected_gene': 'ANKRD13A', 'score': 10.95}, {'connected_gene': 'TCHP', 'score': 9.69}, {'connected_gene': 'GC12M110497', 'score': 0.77}, {'connected_gene': 'ENSG00000202335', 'score': 0.77}]
chr12 GH12I110402 110402400 110404832 2.02 [{'connected_gene': 'ANAPC7', 'score': 550.77}, {'connected_gene': 'ARPC3', 'score': 13.09}, {'connected_gene': 'IFT81', 'score': 11.88}, {'connected_gene': 'FAM216A', 'score': 9.12}, {'connected_gene': 'PIR50479', 'score': 0.44}, {'connected_gene': 'GC12M110397', 'score': 0.44}, {'connected_gene': 'ENSG00000258210', 'score': 0.26}]
chr12 GH12I109847 109847095 109848223 0.57 [{'connected_gene': 'GLTP', 'score': 18.21}, {'connected_gene': 'ARPC3', 'score': 7.74}, {'connected_gene': 'LOC105369975', 'score': 0.77}, {'connected_gene': 'PIR37961', 'score': 0.44}]
chr12 GH12I110107 110107029 110112555 1.41 [{'connected_gene': 'GPN3', 'score': 23.3}, {'connected_gene': 'GLTP', 'score': 13.81}, {'connected_gene': 'IFT81', 'score': 13.29}, {'connected_gene': 'FAM216A', 'score': 10.32}, {'connected_gene': 'TRPV4', 'score': 4.79}, {'connected_gene': 'ARPC3', 'score': 4.37}, {'connected_gene': 'LOC105369976', 'score': 0.44}]
chr12 GH12I110466 110466441 110470195 2.12 [{'connected_gene': 'GPN3', 'score': 586.94}, {'connected_gene': 'FAM216A', 'score': 562.23}, {'connected_gene': 'IFT81', 'score': 29.51}, {'connected_gene': 'ARPC3', 'score': 23.83}, {'connected_gene': 'RNU4-32P', 'score': 21.77}, {'connected_gene': 'HSPA8P14', 'score': 19.78}, {'connected_gene': 'UBE3B', 'score': 10.07}, {'connected_gene': 'PPP1CC', 'score': 9.96}, {'connected_gene': 'RPL31P49', 'score': 0.44}]
chr12 GH12I110726 110726900 110728802 0.7 [{'connected_gene': 'GPN3', 'score': 30.78}, {'connected_gene': 'ARPC3', 'score': 19.62}, {'connected_gene': 'TCTN1', 'score': 17.2}, {'connected_gene': 'FAM216A', 'score': 10.18}, {'connected_gene': 'GLTP', 'score': 6.26}, {'connected_gene': 'GC12P110720', 'score': 0.44}, {'connected_gene': 'PPP1CC', 'score': 0.37}]
chr12 GH12I110454 110454783 110458331 0.94 [{'connected_gene': 'GPN3', 'score': 41.39}, {'connected_gene': 'RPL31P49', 'score': 0.77}, {'connected_gene': 'ARPC3', 'score': 0.44}]
chr12 GH12I110279 110279965 110285675 2.26 [{'connected_gene': 'ATP2A2', 'score': 550.77}, {'connected_gene': 'GPN3', 'score': 26.0}, {'connected_gene': 'ARPC3', 'score': 22.85}, {'connected_gene': 'RNU4-32P', 'score': 10.98}, {'connected_gene': 'IFT81', 'score': 10.66}, {'connected_gene': 'UBE3B', 'score': 10.07}, {'connected_gene': 'RN7SL769P', 'score': 0.18}, {'connected_gene': 'GC12M110365', 'score': 0.18}]
chr12 GH12I110574 110574052 110580300 1.71 [{'connected_gene': 'FAM216A', 'score': 22.74}, {'connected_gene': 'GPN3', 'score': 20.2}, {'connected_gene': 'ARPC3', 'score': 18.49}, {'connected_gene': 'TCTN1', 'score': 10.75}, {'connected_gene': 'GLTP', 'score': 9.78}, {'connected_gene': 'PPTC7', 'score': 5.72}, {'connected_gene': 'ATP2A2', 'score': 4.76}, {'connected_gene': 'VPS29', 'score': 0.18}]
chr12 GH12I110123 110123756 110125425 2 [{'connected_gene': 'IFT81', 'score': 570.62}, {'connected_gene': 'ARPC3', 'score': 21.85}, {'connected_gene': 'C12orf76', 'score': 12.28}, {'connected_gene': 'UBE3B', 'score': 11.91}, {'connected_gene': 'TCTN1', 'score': 10.97}, {'connected_gene': 'FAM216A', 'score': 8.36}, {'connected_gene': 'GC12P110223', 'score': 0.15}]
chr12 GH12I110550 110550390 110550776 0.2 [{'connected_gene': 'PPTC7', 'score': 13.06}, {'connected_gene': 'TCTN1', 'score': 11.47}, {'connected_gene': 'ARPC3', 'score': 5.22}, {'connected_gene': 'VPS29', 'score': 0.25}]
chr12 GH12I110580 110580896 110586245 2.47 [{'connected_gene': 'PPTC7', 'score': 554.27}, {'connected_gene': 'MYL2', 'score': 15.38}, {'connected_gene': 'FAM216A', 'score': 12.43}, {'connected_gene': 'ATP2A2', 'score': 11.6}, {'connected_gene': 'GPN3', 'score': 8.95}, {'connected_gene': 'GLTP', 'score': 4.23}, {'connected_gene': 'ARPC3', 'score': 1.57}, {'connected_gene': 'TCTN1', 'score': 0.29}]
chr12 GH12I110099 110099816 110101521 1.12 [{'connected_gene': 'LOC105369976', 'score': 550.77}, {'connected_gene': 'ARPC3', 'score': 22.61}, {'connected_gene': 'C12orf76', 'score': 0.37}]
chr12 GH12I110589 110589506 110592895 1.66 [{'connected_gene': 'ARPC3', 'score': 11.77}, {'connected_gene': 'TCTN1', 'score': 11.64}, {'connected_gene': 'PPTC7', 'score': 10.49}, {'connected_gene': 'FAM216A', 'score': 9.77}, {'connected_gene': 'HVCN1', 'score': 2.05}]
chr12 GH12I110075 110075397 110075783 0.2 [{'connected_gene': 'ARPC3', 'score': 8.91}, {'connected_gene': 'TRPV4', 'score': 7.21}, {'connected_gene': 'C12orf76', 'score': 0.44}, {'connected_gene': 'GC12P110058', 'score': 0.37}]
chr12 GH12I110536 110536526 110539515 1.24 [{'connected_gene': 'ARPC3', 'score': 23.64}, {'connected_gene': 'GLTP', 'score': 9.61}, {'connected_gene': 'GPN3', 'score': 9.27}, {'connected_gene': 'VPS29', 'score': 0.28}, {'connected_gene': 'PPTC7', 'score': 0.25}]
chr12 GH12I110315 110315801 110318671 0.94 [{'connected_gene': 'ARPC3', 'score': 21.7}, {'connected_gene': 'GLTP', 'score': 4.64}, {'connected_gene': 'ATP2A2', 'score': 0.28}, {'connected_gene': 'RN7SL769P', 'score': 0.26}, {'connected_gene': 'GC12M110365', 'score': 0.26}]
chr12 GH12I110065 110065196 110066386 0.46 [{'connected_gene': 'ARPC3', 'score': 20.11}, {'connected_gene': 'GLTP', 'score': 6.2}, {'connected_gene': 'FAM216A', 'score': 5.45}, {'connected_gene': 'GC12P110058', 'score': 0.44}, {'connected_gene': 'C12orf76', 'score': 0.37}]
chr12 GH12I110384 110384044 110385227 0.49 [{'connected_gene': 'ARPC3', 'score': 13.15}, {'connected_gene': 'GPN3', 'score': 11.4}, {'connected_gene': 'ANKRD13A', 'score': 11.29}, {'connected_gene': 'GIT2', 'score': 11.29}, {'connected_gene': 'C12orf76', 'score': 10.32}, {'connected_gene': 'GLTP', 'score': 4.31}, {'connected_gene': 'IFT81', 'score': 4.07}, {'connected_gene': 'PIR50264', 'score': 0.39}, {'connected_gene': 'PIR42470', 'score': 0.39}, {'connected_gene': 'ANAPC7', 'score': 0.37}]
chr12 GH12I110449 110449044 110451330 2.05 [{'connected_gene': 'ARPC3', 'score': 550.77}, {'connected_gene': 'GPN3', 'score': 36.87}, {'connected_gene': 'GLTP', 'score': 10.3}, {'connected_gene': 'FAM216A', 'score': 9.25}, {'connected_gene': 'ENSG00000258210', 'score': 0.77}]
chr12 GH12I110295 110295648 110296517 0.46 [{'connected_gene': 'ARPC3', 'score': 17.94}, {'connected_gene': 'ATP2A2', 'score': 0.37}, {'connected_gene': 'RN7SL769P', 'score': 0.21}, {'connected_gene': 'GC12M110365', 'score': 0.21}]
chr12 GH12I109980 109980352 109984300 0.2 [{'connected_gene': 'ARPC3', 'score': 17.39}, {'connected_gene': 'C12orf76', 'score': 15.72}, {'connected_gene': 'GIT2', 'score': 6.6}, {'connected_gene': 'GLTP', 'score': 5.91}, {'connected_gene': 'ENSG00000277299', 'score': 0.29}, {'connected_gene': 'TCHP', 'score': 0.15}]
chr12 GH12I110269 110269125 110271259 1.35 [{'connected_gene': 'ARPC3', 'score': 22.29}, {'connected_gene': 'C12orf76', 'score': 10.74}, {'connected_gene': 'FAM216A', 'score': 8.74}, {'connected_gene': 'GLTP', 'score': 4.24}, {'connected_gene': 'GC12P110274', 'score': 0.77}, {'connected_gene': 'GC12P110258', 'score': 0.39}]
chr12 GH12I110088 110088001 110089540 0.49 [{'connected_gene': 'ARPC3', 'score': 19.86}, {'connected_gene': 'C12orf76', 'score': 0.44}, {'connected_gene': 'LOC105369976', 'score': 0.39}]
chr12 GH12I110076 110076788 110078256 0.31 [{'connected_gene': 'ARPC3', 'score': 23.56}, {'connected_gene': 'C12orf76', 'score': 0.77}, {'connected_gene': 'GC12P110058', 'score': 0.37}]
chr12 GH12I110561 110561402 110567709 1.25 [{'connected_gene': 'ARPC3', 'score': 12.98}, {'connected_gene': 'FAM216A', 'score': 12.18}, {'connected_gene': 'GLTP', 'score': 9.8}, {'connected_gene': 'PPTC7', 'score': 0.37}, {'connected_gene': 'VPS29', 'score': 0.21}]
chr12 GH12I110647 110647090 110648872 0.72 [{'connected_gene': 'ARPC3', 'score': 22.98}, {'connected_gene': 'FAM216A', 'score': 11.4}, {'connected_gene': 'GLTP', 'score': 4.25}, {'connected_gene': 'RN7SL387P', 'score': 0.34}, {'connected_gene': 'TCTN1', 'score': 0.29}, {'connected_gene': 'HVCN1', 'score': 0.22}]
chr12 GH12I110569 110569391 110570153 0.2 [{'connected_gene': 'ARPC3', 'score': 19.29}, {'connected_gene': 'FAM216A', 'score': 8.9}, {'connected_gene': 'PPTC7', 'score': 0.39}, {'connected_gene': 'VPS29', 'score': 0.2}]
chr12 GH12I110343 110343843 110346451 1.05 [{'connected_gene': 'ARPC3', 'score': 22.24}, {'connected_gene': 'FAM216A', 'score': 10.28}, {'connected_gene': 'RN7SL769P', 'score': 0.37}, {'connected_gene': 'GC12M110365', 'score': 0.37}, {'connected_gene': 'ATP2A2', 'score': 0.21}]
chr12 GH12I110896 110896021 110897487 0.43 [{'connected_gene': 'ARPC3', 'score': 4.92}, {'connected_gene': 'GC12P110917', 'score': 0.34}, {'connected_gene': 'CCDC63', 'score': 0.23}]
chr12 GH12I110568 110568477 110569248 0.2 [{'connected_gene': 'ARPC3', 'score': 4.28}, {'connected_gene': 'PPTC7', 'score': 0.39}, {'connected_gene': 'VPS29', 'score': 0.2}]
chr12 GH12I110078 110078800 110080477 1.72 [{'connected_gene': 'ARPC3', 'score': 22.94}, {'connected_gene': 'RNU4-32P', 'score': 21.66}, {'connected_gene': 'IFT81', 'score': 10.91}, {'connected_gene': 'ALKBH2', 'score': 10.63}, {'connected_gene': 'UBE3B', 'score': 9.81}, {'connected_gene': 'C12orf76', 'score': 3.64}, {'connected_gene': 'RAD9B', 'score': 2.67}, {'connected_gene': 'GIT2', 'score': 1.52}, {'connected_gene': 'GC12P110058', 'score': 0.34}]
chr12 GH12I110772 110772406 110773682 0.68 [{'connected_gene': 'ARPC3', 'score': 4.38}, {'connected_gene': 'ENSG00000279925', 'score': 0.31}, {'connected_gene': 'PIR49180', 'score': 0.23}]
chr12 GH12I111402 111402457 111415529 2.61 [{'connected_gene': 'SH2B3', 'score': 570.47}, {'connected_gene': 'ATXN2', 'score': 30.16}, {'connected_gene': 'ADAM1A', 'score': 19.28}, {'connected_gene': 'HECTD4', 'score': 18.42}, {'connected_gene': 'ARPC3', 'score': 12.87}, {'connected_gene': 'HSPA8P14', 'score': 10.82}, {'connected_gene': 'RPS2P41', 'score': 9.8}, {'connected_gene': 'ALDH2', 'score': 9.54}, {'connected_gene': 'TMEM116', 'score': 6.06}, {'connected_gene': 'FAM109A', 'score': 1.45}, {'connected_gene': 'PIR45326', 'score': 0.31}, {'connected_gene': 'LINC02356', 'score': 0.28}]
chr12 GH12I109854 109854046 109859514 0.46 [{'connected_gene': 'PIR37961', 'score': 550.77}, {'connected_gene': 'GLTP', 'score': 45.31}, {'connected_gene': 'ENSG00000249094', 'score': 12.37}, {'connected_gene': 'TRPV4', 'score': 12.31}, {'connected_gene': 'TCHP', 'score': 11.81}, {'connected_gene': 'ARPC3', 'score': 10.19}, {'connected_gene': 'GIT2', 'score': 6.32}, {'connected_gene': 'ENSG00000256351', 'score': 0.77}]
chr12 GH12I110256 110256027 110258084 1.39 [{'connected_gene': 'GC12P110258', 'score': 550.77}, {'connected_gene': 'PPTC7', 'score': 3.25}, {'connected_gene': 'ARPC3', 'score': 2.51}, {'connected_gene': 'GC12P110252', 'score': 0.77}]
chr12 GH12I109944 109944528 109953857 1.34 [{'connected_gene': 'ENSG00000277299', 'score': 550.77}, {'connected_gene': 'ARPC3', 'score': 17.13}, {'connected_gene': 'TRPV4', 'score': 7.89}, {'connected_gene': 'GIT2', 'score': 6.45}, {'connected_gene': 'GLTP', 'score': 5.96}, {'connected_gene': 'TCHP', 'score': 0.2}]

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