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
ENST00000412460 [[67976602, 67976731], [67986477, 67986586], [67988716, 67988816], [67998241, 67998345], [67999057, 67999081], [68004037, 68004118], [68005777, 68005876], [68007527, 68007967], [68015271, 68015370], [68018139, 68018210], [68024206, 68024300], [68026039, 68026097], [68028148, 68028357], [68030482, 68030604], [68030977, 68031056], [68044185, 68044315], [68049690, 68049838], [68066258, 68066371], [68070681, 68070831], [68071225, 68071372], [68074045, 68074150], [68075966, 68076033], [68076625, 68076743], [68084650, 68084790], [68087530, 68087671], [68089914, 68089961], [68092097, 68092161], [68102884, 68102994], [68105698, 68105837], [68107616, 68108494]] [[68007899, 68007967], [68015271, 68015370], [68018139, 68018210], [68024206, 68024300], [68026039, 68026097], [68028148, 68028357], [68030482, 68030604], [68030977, 68031056], [68044185, 68044315], [68049690, 68049838], [68066258, 68066371], [68070681, 68070831], [68071225, 68071372], [68074045, 68074150], [68075966, 68076033], [68076625, 68076743], [68084650, 68084790], [68087530, 68087671], [68089914, 68089961], [68092097, 68092161], [68102884, 68102994], [68105698, 68105837], [68107616, 68107828]]
ENST00000262210 [[67976602, 67976731], [67986477, 67986586], [67988716, 67988816], [67998241, 67998345], [68005777, 68005876], [68007527, 68007967], [68015271, 68015370], [68018139, 68018210], [68024206, 68024300], [68026039, 68026097], [68028148, 68028357], [68030482, 68030604], [68030977, 68031056], [68044185, 68044315], [68049690, 68049838], [68062017, 68062170], [68066258, 68066371], [68070681, 68070831], [68071225, 68071372], [68074045, 68074150], [68075966, 68076033], [68076625, 68076743], [68084650, 68084790], [68087530, 68087671], [68089914, 68089961], [68092097, 68092161], [68102884, 68102994], [68105698, 68105837], [68107616, 68108498]] [[67976633, 67976731], [67986477, 67986586], [67988716, 67988816], [67998241, 67998345], [68005777, 68005876], [68007527, 68007967], [68015271, 68015370], [68018139, 68018210], [68024206, 68024300], [68026039, 68026097], [68028148, 68028357], [68030482, 68030604], [68030977, 68031056], [68044185, 68044315], [68049690, 68049838], [68062017, 68062170], [68066258, 68066371], [68070681, 68070831], [68071225, 68071372], [68074045, 68074150], [68075966, 68076033], [68076625, 68076743], [68084650, 68084790], [68087530, 68087671], [68089914, 68089961], [68092097, 68092161], [68102884, 68102994], [68105698, 68105837], [68107616, 68107828]]
ENST00000519163 [[67976662, 67976731], [67986477, 67986586], [67988716, 67988816], [67998241, 67998345], [67999057, 67999081], [68004037, 68004118], [68005777, 68005876], [68007527, 68007967], [68015271, 68015370], [68018139, 68018210], [68024206, 68024310], [68026039, 68027499], [68028148, 68028357], [68030482, 68030604], [68030977, 68031056], [68044185, 68044315], [68049690, 68049838], [68062017, 68062170], [68066258, 68066371], [68070681, 68070831], [68071225, 68071271]] [[67986487, 67986586], [67988716, 67988816], [67998241, 67998345], [67999057, 67999081], [68004037, 68004118], [68005777, 68005876], [68007527, 68007967], [68015271, 68015370], [68018139, 68018210], [68024206, 68024304]]
ENST00000519668 [[67996082, 67996573], [67998241, 67998345], [68005777, 68005876], [68007527, 68007967], [68015271, 68015370], [68018139, 68018210], [68024206, 68024300], [68026039, 68026097], [68028148, 68028357], [68030482, 68030604], [68030977, 68031056], [68044185, 68044315], [68049690, 68049838], [68066258, 68066371], [68070681, 68070831], [68071225, 68071372], [68074045, 68074150], [68075966, 68076033], [68076625, 68076743], [68084650, 68084790], [68087530, 68087671], [68089914, 68089961], [68092097, 68092161], [68102884, 68102994], [68105698, 68105837], [68107616, 68107846]] [[68007899, 68007967], [68015271, 68015370], [68018139, 68018210], [68024206, 68024300], [68026039, 68026097], [68028148, 68028357], [68030482, 68030604], [68030977, 68031056], [68044185, 68044315], [68049690, 68049838], [68066258, 68066371], [68070681, 68070831], [68071225, 68071372], [68074045, 68074150], [68075966, 68076033], [68076625, 68076743], [68084650, 68084790], [68087530, 68087671], [68089914, 68089961], [68092097, 68092161], [68102884, 68102994], [68105698, 68105837], [68107616, 68107828]]
ENST00000521919 [[67974660, 67974755], [67986477, 67986586], [67988716, 67988816], [67998241, 67998345], [68004037, 68004118], [68005777, 68005855]] [[67986487, 67986586], [67988716, 67988816], [67998241, 67998345], [68004037, 68004118], [68005777, 68005855]]
ENST00000519701 [[67976660, 67976731], [67986477, 67986586], [67987040, 67987158], [67988716, 67988816], [67998241, 67998345], [68004037, 68004104]] [[67986487, 67986586], [67987040, 67987142]]
ENST00000521168 [[68069861, 68070092], [68070681, 68070831], [68071225, 68071372], [68074045, 68074150], [68075966, 68076033], [68076625, 68076743], [68084650, 68084790], [68087530, 68087671], [68089914, 68089961], [68092097, 68092161], [68102884, 68102994], [68107616, 68107753]] None
ENST00000521324 [[68084746, 68084790], [68085003, 68085208], [68087530, 68087671], [68089914, 68089961], [68092097, 68092161], [68102884, 68102994], [68105698, 68105812]] None
NM_024790 [[67976602, 67976731], [67986477, 67986586], [67988716, 67988816], [67998241, 67998345], [68005777, 68005876], [68007527, 68007967], [68015271, 68015370], [68018139, 68018210], [68024206, 68024300], [68026039, 68026097], [68028148, 68028357], [68030482, 68030604], [68030977, 68031056], [68044185, 68044315], [68049690, 68049838], [68062017, 68062170], [68066258, 68066371], [68070681, 68070831], [68071225, 68071372], [68074045, 68074150], [68075966, 68076033], [68076625, 68076743], [68084650, 68084790], [68087530, 68087671], [68089914, 68089961], [68092097, 68092161], [68102884, 68102994], [68105698, 68105837], [68107616, 68108849]] [[67976633, 67976731], [67986477, 67986586], [67988716, 67988816], [67998241, 67998345], [68005777, 68005876], [68007527, 68007967], [68015271, 68015370], [68018139, 68018210], [68024206, 68024300], [68026039, 68026097], [68028148, 68028357], [68030482, 68030604], [68030977, 68031056], [68044185, 68044315], [68049690, 68049838], [68062017, 68062170], [68066258, 68066371], [68070681, 68070831], [68071225, 68071372], [68074045, 68074150], [68075966, 68076033], [68076625, 68076743], [68084650, 68084790], [68087530, 68087671], [68089914, 68089961], [68092097, 68092161], [68102884, 68102994], [68105698, 68105837], [68107616, 68107828]]
NM_001291339 [[67996082, 67996573], [67998241, 67998345], [68005777, 68005876], [68007527, 68007967], [68015271, 68015370], [68018139, 68018210], [68024206, 68024300], [68026039, 68026097], [68028148, 68028357], [68030482, 68030604], [68030977, 68031056], [68044185, 68044315], [68049690, 68049838], [68066258, 68066371], [68070681, 68070831], [68071225, 68071372], [68074045, 68074150], [68075966, 68076033], [68076625, 68076743], [68084650, 68084790], [68087530, 68087671], [68089914, 68089961], [68092097, 68092161], [68102884, 68102994], [68105698, 68105837], [68107616, 68108849]] [[68007899, 68007967], [68015271, 68015370], [68018139, 68018210], [68024206, 68024300], [68026039, 68026097], [68028148, 68028357], [68030482, 68030604], [68030977, 68031056], [68044185, 68044315], [68049690, 68049838], [68066258, 68066371], [68070681, 68070831], [68071225, 68071372], [68074045, 68074150], [68075966, 68076033], [68076625, 68076743], [68084650, 68084790], [68087530, 68087671], [68089914, 68089961], [68092097, 68092161], [68102884, 68102994], [68105698, 68105837], [68107616, 68107828]]
Promoter
Chrom Start End Description
chr8 67976593 67976645 CAGE_peak_1_at_CSPP1_5end
chr8 67976646 67976676 CAGE_peak_2_at_CSPP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I067951 67951258 67953806 2.04 [{'connected_gene': 'PREX2', 'score': 564.55}, {'connected_gene': 'LOC100288001', 'score': 14.05}, {'connected_gene': 'ENSG00000271966', 'score': 11.32}, {'connected_gene': 'CSPP1', 'score': 10.6}, {'connected_gene': 'LOC105375888', 'score': 0.11}]
chr8 GH08I067061 67060685 67060755 0.63 [{'connected_gene': 'CSPP1', 'score': 550.77}, {'connected_gene': 'PPP1R42', 'score': 0.77}, {'connected_gene': 'COPS5', 'score': 0.34}]
chr8 GH08I066151 66151895 66152977 0.59 [{'connected_gene': 'CSPP1', 'score': 15.71}, {'connected_gene': 'CRH', 'score': 11.59}, {'connected_gene': 'ENSG00000250869', 'score': 11.37}, {'connected_gene': 'TRIM55', 'score': 11.35}, {'connected_gene': 'C8orf44', 'score': 10.24}, {'connected_gene': 'ARMC1', 'score': 10.0}, {'connected_gene': 'LINC00967', 'score': 5.03}, {'connected_gene': 'GC08P066170', 'score': 0.37}, {'connected_gene': 'PIR59286', 'score': 0.28}, {'connected_gene': 'GC08P066144', 'score': 0.28}, {'connected_gene': 'GC08P066148', 'score': 0.28}, {'connected_gene': 'GC08P066013', 'score': 0.12}]
chr8 GH08I066678 66678600 66681159 1.04 [{'connected_gene': 'CSPP1', 'score': 9.75}, {'connected_gene': 'COPS5', 'score': 9.74}, {'connected_gene': 'C8orf44', 'score': 4.95}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.39}, {'connected_gene': 'SGK3', 'score': 0.29}]
chr8 GH08I066917 66917201 66921428 1.01 [{'connected_gene': 'CSPP1', 'score': 10.23}, {'connected_gene': 'COPS5', 'score': 10.21}, {'connected_gene': 'PPP1R42', 'score': 9.82}, {'connected_gene': 'TCF24', 'score': 5.0}, {'connected_gene': 'GC08M066923', 'score': 0.77}, {'connected_gene': 'MCMDC2', 'score': 0.25}]
chr8 GH08I067060 67060794 67066168 2.31 [{'connected_gene': 'CSPP1', 'score': 550.77}, {'connected_gene': 'COPS5', 'score': 550.34}, {'connected_gene': 'ARFGEF1', 'score': 37.87}, {'connected_gene': 'C8orf44', 'score': 15.08}, {'connected_gene': 'TCF24', 'score': 5.33}]
chr8 GH08I066922 66922052 66927158 1.58 [{'connected_gene': 'SNHG6', 'score': 550.77}, {'connected_gene': 'ARFGEF1', 'score': 26.93}, {'connected_gene': 'C8orf44', 'score': 20.36}, {'connected_gene': 'CSPP1', 'score': 12.91}, {'connected_gene': 'TCF24', 'score': 5.12}, {'connected_gene': 'VCPIP1', 'score': 4.29}, {'connected_gene': 'SNORD87', 'score': 0.77}, {'connected_gene': 'GC08M066924', 'score': 0.77}, {'connected_gene': 'GC08M066923', 'score': 0.77}, {'connected_gene': 'MCMDC2', 'score': 0.23}]
chr8 GH08I066790 66790355 66792270 0.57 [{'connected_gene': 'PPP1R42', 'score': 9.75}, {'connected_gene': 'CSPP1', 'score': 9.75}, {'connected_gene': 'COPS5', 'score': 9.75}, {'connected_gene': 'C8orf44', 'score': 4.33}, {'connected_gene': 'GC08M066750', 'score': 0.44}, {'connected_gene': 'SGK3', 'score': 0.18}, {'connected_gene': 'MCMDC2', 'score': 0.18}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.13}]
chr8 GH08I066788 66788001 66788200 0.4 [{'connected_gene': 'PPP1R42', 'score': 9.75}, {'connected_gene': 'CSPP1', 'score': 9.75}, {'connected_gene': 'COPS5', 'score': 9.75}, {'connected_gene': 'GC08M066750', 'score': 0.77}, {'connected_gene': 'SGK3', 'score': 0.18}, {'connected_gene': 'MCMDC2', 'score': 0.18}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.13}]
chr8 GH08I066689 66689200 66689400 0.69 [{'connected_gene': 'PPP1R42', 'score': 10.45}, {'connected_gene': 'CSPP1', 'score': 10.45}, {'connected_gene': 'COPS5', 'score': 10.45}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.34}, {'connected_gene': 'C8orf44', 'score': 0.34}, {'connected_gene': 'SGK3', 'score': 0.34}]
chr8 GH08I066690 66689006 66689175 0.69 [{'connected_gene': 'PPP1R42', 'score': 10.45}, {'connected_gene': 'CSPP1', 'score': 10.45}, {'connected_gene': 'COPS5', 'score': 10.45}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.34}, {'connected_gene': 'C8orf44', 'score': 0.34}, {'connected_gene': 'SGK3', 'score': 0.34}]
chr8 GH08I066691 66689457 66690183 0.63 [{'connected_gene': 'PPP1R42', 'score': 10.45}, {'connected_gene': 'CSPP1', 'score': 10.45}, {'connected_gene': 'COPS5', 'score': 10.45}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.34}, {'connected_gene': 'C8orf44', 'score': 0.34}, {'connected_gene': 'SGK3', 'score': 0.34}]
chr8 GH08I067028 67028000 67029943 1.91 [{'connected_gene': 'PPP1R42', 'score': 561.59}, {'connected_gene': 'LOC105375885', 'score': 550.77}, {'connected_gene': 'CSPP1', 'score': 11.57}, {'connected_gene': 'COPS5', 'score': 11.51}, {'connected_gene': 'SNHG6', 'score': 11.37}, {'connected_gene': 'SNORD87', 'score': 11.37}]
chr8 GH08I066774 66774200 66776361 2.23 [{'connected_gene': 'SGK3', 'score': 550.21}, {'connected_gene': 'CSPP1', 'score': 10.03}, {'connected_gene': 'COPS5', 'score': 10.02}, {'connected_gene': 'C8orf44', 'score': 4.8}, {'connected_gene': 'PTTG3P', 'score': 0.44}, {'connected_gene': 'GC08M066750', 'score': 0.39}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.14}]
chr8 GH08I067339 67339170 67340295 0.86 [{'connected_gene': 'COPS5', 'score': 9.26}, {'connected_gene': 'CSPP1', 'score': 9.25}, {'connected_gene': 'PPP1R42', 'score': 9.0}, {'connected_gene': 'ARFGEF1', 'score': 0.77}, {'connected_gene': 'LOC102724708', 'score': 0.77}, {'connected_gene': 'GC08M067260', 'score': 0.22}, {'connected_gene': 'GC08P067259', 'score': 0.18}]
chr8 GH08I067316 67316696 67317840 0.56 [{'connected_gene': 'COPS5', 'score': 9.54}, {'connected_gene': 'CSPP1', 'score': 9.54}, {'connected_gene': 'PPP1R42', 'score': 9.43}, {'connected_gene': 'ARFGEF1', 'score': 0.31}, {'connected_gene': 'LOC102724708', 'score': 0.31}, {'connected_gene': 'GC08M067260', 'score': 0.28}, {'connected_gene': 'GC08P067259', 'score': 0.22}]
chr8 GH08I067306 67306826 67308546 0.31 [{'connected_gene': 'COPS5', 'score': 9.15}, {'connected_gene': 'CSPP1', 'score': 9.14}, {'connected_gene': 'PPP1R42', 'score': 8.88}, {'connected_gene': 'GC08M067260', 'score': 0.31}, {'connected_gene': 'ARFGEF1', 'score': 0.28}, {'connected_gene': 'LOC102724708', 'score': 0.28}, {'connected_gene': 'GC08P067259', 'score': 0.25}]
chr8 GH08I067254 67254066 67254215 0.38 [{'connected_gene': 'COPS5', 'score': 10.47}, {'connected_gene': 'CSPP1', 'score': 10.46}, {'connected_gene': 'PPP1R42', 'score': 10.45}, {'connected_gene': 'GC08P067259', 'score': 0.44}, {'connected_gene': 'GC08M067189', 'score': 0.21}, {'connected_gene': 'ARFGEF1', 'score': 0.17}]
chr8 GH08I067197 67197709 67197920 0.4 [{'connected_gene': 'COPS5', 'score': 11.09}, {'connected_gene': 'CSPP1', 'score': 11.07}, {'connected_gene': 'PPP1R42', 'score': 11.07}, {'connected_gene': 'GC08M067189', 'score': 0.44}, {'connected_gene': 'GC08P067259', 'score': 0.21}, {'connected_gene': 'ARFGEF1', 'score': 0.11}]
chr8 GH08I067242 67242614 67242968 0.31 [{'connected_gene': 'COPS5', 'score': 10.29}, {'connected_gene': 'CSPP1', 'score': 10.27}, {'connected_gene': 'PPP1R42', 'score': 10.27}, {'connected_gene': 'GC08P067259', 'score': 0.37}, {'connected_gene': 'GC08M067189', 'score': 0.23}, {'connected_gene': 'ARFGEF1', 'score': 0.15}]
chr8 GH08I067255 67255706 67255855 0.79 [{'connected_gene': 'COPS5', 'score': 9.8}, {'connected_gene': 'CSPP1', 'score': 9.79}, {'connected_gene': 'PPP1R42', 'score': 9.79}, {'connected_gene': 'GC08P067259', 'score': 0.77}, {'connected_gene': 'GC08M067189', 'score': 0.21}, {'connected_gene': 'ARFGEF1', 'score': 0.17}]
chr8 GH08I067110 67110406 67110555 0.2 [{'connected_gene': 'COPS5', 'score': 10.93}, {'connected_gene': 'CSPP1', 'score': 10.86}, {'connected_gene': 'PPP1R42', 'score': 10.85}, {'connected_gene': 'RNA5SP268', 'score': 0.39}, {'connected_gene': 'ENSG00000250869', 'score': 0.31}]
chr8 GH08I067109 67109966 67110155 0.94 [{'connected_gene': 'COPS5', 'score': 10.7}, {'connected_gene': 'CSPP1', 'score': 10.63}, {'connected_gene': 'PPP1R42', 'score': 10.52}, {'connected_gene': 'RNA5SP268', 'score': 0.39}, {'connected_gene': 'ENSG00000250869', 'score': 0.31}]
chr8 GH08I067083 67083664 67085163 0.43 [{'connected_gene': 'COPS5', 'score': 550.77}, {'connected_gene': 'CSPP1', 'score': 11.94}, {'connected_gene': 'PPP1R42', 'score': 10.94}, {'connected_gene': 'RNA5SP268', 'score': 0.39}]
chr8 GH08I067172 67172946 67173095 0.52 [{'connected_gene': 'COPS5', 'score': 9.86}, {'connected_gene': 'CSPP1', 'score': 9.83}, {'connected_gene': 'PPP1R42', 'score': 9.82}, {'connected_gene': 'PIR58223', 'score': 0.44}, {'connected_gene': 'NPM1P44', 'score': 0.39}]
chr8 GH08I067184 67184793 67185163 0.22 [{'connected_gene': 'NPM1P44', 'score': 550.77}, {'connected_gene': 'COPS5', 'score': 10.19}, {'connected_gene': 'CSPP1', 'score': 10.17}, {'connected_gene': 'PPP1R42', 'score': 9.77}, {'connected_gene': 'MCMDC2', 'score': 5.96}, {'connected_gene': 'C8orf44', 'score': 5.33}, {'connected_gene': 'PIR58223', 'score': 0.37}, {'connected_gene': 'ARFGEF1', 'score': 0.1}]
chr8 GH08I066516 66516071 66528371 1.66 [{'connected_gene': 'LOC100288001', 'score': 12.49}, {'connected_gene': 'RNU6-1324P', 'score': 12.21}, {'connected_gene': 'ARMC1', 'score': 11.12}, {'connected_gene': 'MYBL1', 'score': 11.02}, {'connected_gene': 'CSPP1', 'score': 9.76}, {'connected_gene': 'C8orf46', 'score': 0.21}, {'connected_gene': 'GC08M066613', 'score': 0.16}]
chr8 GH08I066112 66112302 66116057 1.79 [{'connected_gene': 'TRY-GTA5-2', 'score': 550.77}, {'connected_gene': 'PIR37716', 'score': 550.77}, {'connected_gene': 'PIR59286', 'score': 550.77}, {'connected_gene': 'GC08P066144', 'score': 550.77}, {'connected_gene': 'GC08P066148', 'score': 550.77}, {'connected_gene': 'TRIM55', 'score': 550.77}, {'connected_gene': 'TRY-GTA5-1', 'score': 550.77}, {'connected_gene': 'C8orf44', 'score': 21.6}, {'connected_gene': 'CSPP1', 'score': 21.31}, {'connected_gene': 'LOC100288001', 'score': 15.48}, {'connected_gene': 'MCMDC2', 'score': 9.83}, {'connected_gene': 'ADHFE1', 'score': 4.03}, {'connected_gene': 'GC08P066013', 'score': 0.15}]
chr8 GH08I066961 66961036 66963426 1.49 [{'connected_gene': 'TCF24', 'score': 555.2}, {'connected_gene': 'SNHG6', 'score': 11.63}, {'connected_gene': 'SNORD87', 'score': 11.63}, {'connected_gene': 'PPP1R42', 'score': 10.17}, {'connected_gene': 'CSPP1', 'score': 10.16}, {'connected_gene': 'COPS5', 'score': 10.14}]
chr8 GH08I066787 66787551 66787849 0.54 [{'connected_gene': 'GC08M066750', 'score': 550.77}, {'connected_gene': 'SGK3', 'score': 13.11}, {'connected_gene': 'PPP1R42', 'score': 9.75}, {'connected_gene': 'CSPP1', 'score': 9.75}, {'connected_gene': 'COPS5', 'score': 9.75}, {'connected_gene': 'ADHFE1', 'score': 4.09}, {'connected_gene': 'VCPIP1', 'score': 1.53}, {'connected_gene': 'MCMDC2', 'score': 0.18}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.13}]
chr8 GH08I067192 67192897 67193073 0.22 [{'connected_gene': 'GC08M067189', 'score': 550.77}, {'connected_gene': 'COPS5', 'score': 11.1}, {'connected_gene': 'PPP1R42', 'score': 11.07}, {'connected_gene': 'CSPP1', 'score': 11.07}, {'connected_gene': 'GC08P067259', 'score': 0.2}, {'connected_gene': 'ARFGEF1', 'score': 0.1}]

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