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
ENST00000228827 [[110890288, 110890901], [110891547, 110891676], [110893390, 110893487], [110893619, 110893735], [110895314, 110895439], [110897499, 110897667], [110902910, 110903019], [110905960, 110906071]] [[110890838, 110890901], [110891547, 110891676], [110893390, 110893487], [110893619, 110893735], [110895314, 110895439], [110897499, 110897667], [110902910, 110903019], [110905960, 110906008]]
ENST00000543199 [[110890291, 110890901], [110891547, 110891676], [110893390, 110893487], [110893619, 110893735], [110895314, 110895439], [110897499, 110897667], [110902910, 110903019], [110906276, 110906526]] [[110890838, 110890901], [110891547, 110891676], [110893390, 110893487], [110893619, 110893735], [110895314, 110895439], [110897499, 110897667], [110902910, 110903019], [110906276, 110906441]]
ENST00000537466 [[110890293, 110890901], [110891547, 110891676], [110893390, 110893487], [110893619, 110893735], [110895314, 110895439], [110897499, 110897667], [110902910, 110903019], [110905930, 110906069]] [[110890838, 110890901], [110891547, 110891676], [110893390, 110893487], [110893619, 110893735], [110895314, 110895439], [110897499, 110897667], [110902910, 110903019], [110905930, 110906008]]
ENST00000551079 [[110890368, 110890901], [110891547, 110891634], [110893390, 110893487], [110893619, 110893735]] [[110890838, 110890901], [110891547, 110891634], [110893390, 110893487], [110893619, 110893735]]
ENST00000550228 [[110891616, 110891676], [110895314, 110895439], [110897499, 110897667]] [[110891616, 110891676], [110895314, 110895439], [110897499, 110897667]]
ENST00000550974 [[110893642, 110893735], [110895314, 110895439], [110897499, 110897667], [110902910, 110903019], [110906000, 110906069]] [[110893642, 110893735], [110895314, 110895439], [110897499, 110897667], [110902910, 110903001]]
ENST00000552180 [[110897624, 110897667], [110902910, 110903019], [110906276, 110906406], [110906661, 110907019]] None
ENST00000547323 [[110902584, 110903019], [110905960, 110906066]] None
ENST00000549963 [[110902990, 110903019], [110905960, 110906180], [110906276, 110906524]] [[110902990, 110903019], [110905960, 110906008]]
ENST00000546592 [[110906084, 110906180], [110906276, 110906406], [110906661, 110907073]] None
NM_001164373 [[110890290, 110890901], [110891547, 110891676], [110893390, 110893487], [110893619, 110893735], [110895314, 110895439], [110897499, 110897667], [110902910, 110903019], [110905930, 110906089]] [[110890838, 110890901], [110891547, 110891676], [110893390, 110893487], [110893619, 110893735], [110895314, 110895439], [110897499, 110897667], [110902910, 110903019], [110905930, 110906008]]
NM_016301 [[110890290, 110890901], [110891547, 110891676], [110893390, 110893487], [110893619, 110893735], [110895314, 110895439], [110897499, 110897667], [110902910, 110903019], [110905960, 110906089]] [[110890838, 110890901], [110891547, 110891676], [110893390, 110893487], [110893619, 110893735], [110895314, 110895439], [110897499, 110897667], [110902910, 110903019], [110905960, 110906008]]
NM_001164372 [[110890290, 110890901], [110891547, 110891676], [110893390, 110893487], [110893619, 110893735], [110895314, 110895439], [110897499, 110897667], [110902910, 110903019], [110906276, 110906526]] [[110890838, 110890901], [110891547, 110891676], [110893390, 110893487], [110893619, 110893735], [110895314, 110895439], [110897499, 110897667], [110902910, 110903019], [110906276, 110906441]]
Promoter
Chrom Start End Description
chr12 110906005 110906021 CAGE_peak_2_at_GPN3_5end
chr12 110906027 110906089 CAGE_peak_1_at_GPN3_5end
chr12 110907001 110907009 CAGE_peak_7_at_GPN3_5end
chr12 110907026 110907033 CAGE_peak_6_at_GPN3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I110791 110791717 110791866 0.6 [{'connected_gene': 'HVCN1', 'score': 11.0}, {'connected_gene': 'MYL2', 'score': 10.7}, {'connected_gene': 'GPN3', 'score': 7.3}, {'connected_gene': 'PIR49180', 'score': 0.28}, {'connected_gene': 'ENSG00000279925', 'score': 0.25}]
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 GH12I110602 110602001 110602495 1.06 [{'connected_gene': 'ATXN2', 'score': 15.3}, {'connected_gene': 'IFT81', 'score': 13.79}, {'connected_gene': 'FAM216A', 'score': 11.27}, {'connected_gene': 'GPN3', 'score': 11.27}, {'connected_gene': 'TCTN1', 'score': 0.39}, {'connected_gene': 'PPTC7', 'score': 0.37}]
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 GH12I110567 110567783 110568386 0.2 [{'connected_gene': 'GLTP', 'score': 12.83}, {'connected_gene': 'GPN3', 'score': 9.12}, {'connected_gene': 'PPTC7', 'score': 0.37}, {'connected_gene': 'VPS29', 'score': 0.2}]
chr12 GH12I109840 109840043 109841369 0.8 [{'connected_gene': 'GLTP', 'score': 12.06}, {'connected_gene': 'GPN3', 'score': 9.34}, {'connected_gene': 'LOC105369975', 'score': 0.77}, {'connected_gene': 'TRPV4', 'score': 0.44}]
chr12 GH12I110676 110676014 110679553 1.19 [{'connected_gene': 'GPN3', 'score': 33.45}, {'connected_gene': 'TCTN1', 'score': 12.38}, {'connected_gene': 'HVCN1', 'score': 12.09}, {'connected_gene': 'FAM216A', 'score': 10.28}, {'connected_gene': 'RN7SL387P', 'score': 0.23}]
chr12 GH12I110535 110535715 110536435 0.2 [{'connected_gene': 'GPN3', 'score': 11.15}, {'connected_gene': 'TCTN1', 'score': 10.5}, {'connected_gene': 'VPS29', 'score': 0.29}, {'connected_gene': 'PPTC7', 'score': 0.25}]
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 GH12I110302 110302731 110305002 0.51 [{'connected_gene': 'GPN3', 'score': 5.66}, {'connected_gene': 'ATP2A2', 'score': 0.34}, {'connected_gene': 'RN7SL769P', 'score': 0.22}, {'connected_gene': 'GC12M110365', 'score': 0.22}]
chr12 GH12I110134 110134556 110136013 0.62 [{'connected_gene': 'GPN3', 'score': 21.77}, {'connected_gene': 'C12orf76', 'score': 11.54}, {'connected_gene': 'FAM216A', 'score': 9.64}, {'connected_gene': 'IFT81', 'score': 0.39}, {'connected_gene': 'GC12P110223', 'score': 0.17}]
chr12 GH12I110077 110075874 110076234 0.38 [{'connected_gene': 'GPN3', 'score': 16.81}, {'connected_gene': 'C12orf76', 'score': 0.44}, {'connected_gene': 'GC12P110058', 'score': 0.37}]
chr12 GH12I110599 110599401 110599800 0.51 [{'connected_gene': 'GPN3', 'score': 17.75}, {'connected_gene': 'FAM216A', 'score': 11.27}, {'connected_gene': 'TCTN1', 'score': 0.39}, {'connected_gene': 'PPTC7', 'score': 0.37}]
chr12 GH12I110377 110377154 110378252 0.43 [{'connected_gene': 'GPN3', 'score': 34.98}, {'connected_gene': 'FAM216A', 'score': 8.68}, {'connected_gene': 'PIR50264', 'score': 0.77}, {'connected_gene': 'PIR42470', 'score': 0.37}, {'connected_gene': 'ANAPC7', 'score': 0.31}]
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 GH12I110175 110175923 110177660 0.38 [{'connected_gene': 'GPN3', 'score': 22.36}, {'connected_gene': 'IFT81', 'score': 12.06}, {'connected_gene': 'C12orf76', 'score': 10.4}, {'connected_gene': 'GC12P110223', 'score': 0.25}]
chr12 GH12I110555 110555052 110556898 1.06 [{'connected_gene': 'GPN3', 'score': 35.63}, {'connected_gene': 'PPTC7', 'score': 13.07}, {'connected_gene': 'TCTN1', 'score': 11.48}, {'connected_gene': 'FAM216A', 'score': 9.16}, {'connected_gene': 'VPS29', 'score': 0.23}]
chr12 GH12I110512 110512401 110512645 0.85 [{'connected_gene': 'GPN3', 'score': 36.66}, {'connected_gene': 'RAD9B', 'score': 0.39}, {'connected_gene': 'VPS29', 'score': 0.39}, {'connected_gene': 'PPTC7', 'score': 0.19}]
chr12 GH12I110266 110266076 110268285 1.58 [{'connected_gene': 'GPN3', 'score': 22.66}, {'connected_gene': 'RNU4-32P', 'score': 10.85}, {'connected_gene': 'IFT81', 'score': 10.76}, {'connected_gene': 'C12orf76', 'score': 10.74}, {'connected_gene': 'UBE3B', 'score': 9.81}, {'connected_gene': 'ATP2A2', 'score': 4.93}, {'connected_gene': 'PPTC7', 'score': 1.93}, {'connected_gene': 'GC12P110274', 'score': 0.44}, {'connected_gene': 'GC12P110258', '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 GH12I109571 109571576 109574771 2.12 [{'connected_gene': 'MVK', 'score': 559.22}, {'connected_gene': 'MMAB', 'score': 550.77}, {'connected_gene': 'RNU4-32P', 'score': 20.67}, {'connected_gene': 'UBE3B', 'score': 18.78}, {'connected_gene': 'KCTD10', 'score': 18.14}, {'connected_gene': 'GPN3', 'score': 11.17}, {'connected_gene': 'MYO1H', 'score': 10.98}, {'connected_gene': 'GC12M109566', 'score': 0.77}]
chr12 GH12I110211 110211184 110212859 0.59 [{'connected_gene': 'C12orf76', 'score': 10.59}, {'connected_gene': 'GPN3', 'score': 5.05}, {'connected_gene': 'GC12P110223', 'score': 0.39}, {'connected_gene': 'IFT81', 'score': 0.17}]
chr12 GH12I110600 110600201 110600800 1.16 [{'connected_gene': 'FAM216A', 'score': 11.27}, {'connected_gene': 'GPN3', 'score': 11.27}, {'connected_gene': 'TCTN1', 'score': 0.39}, {'connected_gene': 'PPTC7', 'score': 0.37}]
chr12 GH12I110180 110180156 110181638 0.2 [{'connected_gene': 'FAM216A', 'score': 9.25}, {'connected_gene': 'GPN3', 'score': 5.07}, {'connected_gene': 'GLTP', 'score': 4.47}, {'connected_gene': 'GC12P110223', 'score': 0.26}, {'connected_gene': 'IFT81', 'score': 0.22}]
chr12 GH12I110637 110637614 110640665 1.2 [{'connected_gene': 'FAM216A', 'score': 10.46}, {'connected_gene': 'GPN3', 'score': 9.81}, {'connected_gene': 'RN7SL387P', 'score': 0.39}, {'connected_gene': 'TCTN1', 'score': 0.31}, {'connected_gene': 'HVCN1', 'score': 0.2}]
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 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 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 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 GH12I110252 110252613 110254400 1.12 [{'connected_gene': 'GC12P110252', 'score': 550.77}, {'connected_gene': 'GPN3', 'score': 26.47}, {'connected_gene': 'FAM216A', 'score': 9.04}, {'connected_gene': 'GC12P110258', 'score': 0.77}]

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