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
ENST00000555699 [[93170151, 93170706], [93176016, 93176217], [93178003, 93178093], [93178181, 93178300], [93179149, 93179216], [93180167, 93180230], [93180720, 93180796], [93182480, 93182566], [93183724, 93183806], [93185091, 93185189], [93198993, 93199160], [93214833, 93214957]] [[93170607, 93170706], [93176016, 93176217], [93178003, 93178093], [93178181, 93178300], [93179149, 93179216], [93180167, 93180230], [93180720, 93180796], [93182480, 93182566], [93183724, 93183806], [93185091, 93185189], [93198993, 93199131]]
ENST00000334869 [[93170153, 93170706], [93170984, 93171052], [93172827, 93172998], [93176016, 93176217], [93178003, 93178093], [93178181, 93178300], [93179149, 93179216], [93180167, 93180230], [93180720, 93180796], [93182480, 93182566], [93183724, 93183806], [93185091, 93185189], [93198993, 93199160], [93214833, 93215047]] [[93170663, 93170706], [93170984, 93171052], [93172827, 93172998], [93176016, 93176217], [93178003, 93178093], [93178181, 93178300], [93179149, 93179216], [93180167, 93180230], [93180720, 93180796], [93182480, 93182566], [93183724, 93183806], [93185091, 93185189], [93198993, 93199131]]
ENST00000557434 [[93170183, 93170706], [93170984, 93171052], [93176016, 93176217], [93178003, 93178093], [93178181, 93178300], [93179149, 93179216], [93180167, 93180230], [93180720, 93180796], [93182480, 93182566], [93183724, 93183806], [93185091, 93185189], [93198993, 93199160], [93214833, 93214990]] [[93170663, 93170706], [93170984, 93171052], [93176016, 93176217], [93178003, 93178093], [93178181, 93178300], [93179149, 93179216], [93180167, 93180230], [93180720, 93180796], [93182480, 93182566], [93183724, 93183806], [93185091, 93185189], [93198993, 93199131]]
ENST00000393218 [[93170188, 93170706], [93170984, 93171052], [93172827, 93172998], [93176016, 93176217], [93178003, 93178093], [93178181, 93178300], [93179149, 93179216], [93180167, 93180230], [93180720, 93180796], [93182480, 93182566], [93183724, 93183806], [93185091, 93185189], [93198993, 93199160], [93207406, 93207524], [93214833, 93215024]] [[93170663, 93170706], [93170984, 93171052], [93172827, 93172998], [93176016, 93176217], [93178003, 93178093], [93178181, 93178300], [93179149, 93179216], [93180167, 93180230], [93180720, 93180796], [93182480, 93182566], [93183724, 93183806], [93185091, 93185189], [93198993, 93199131]]
ENST00000557609 [[93170191, 93170706], [93170984, 93171052], [93172827, 93172998], [93176016, 93176217], [93178003, 93178093], [93178181, 93178300], [93179149, 93179216], [93180167, 93180230], [93180720, 93180796], [93183724, 93183806], [93185091, 93185189], [93198993, 93199160], [93214833, 93214948]] [[93180760, 93180796], [93183724, 93183806], [93185091, 93185189], [93198993, 93199131]]
ENST00000556097 [[93178003, 93178093], [93178181, 93178300], [93179067, 93179216], [93180167, 93180230], [93180720, 93180796], [93182480, 93182566], [93183724, 93183806], [93185091, 93185189], [93198993, 93199160], [93214833, 93214957]] [[93179087, 93179216], [93180167, 93180230], [93180720, 93180796], [93182480, 93182566], [93183724, 93183806], [93185091, 93185189], [93198993, 93199131]]
ENST00000554189 [[93180196, 93180230], [93180720, 93180796], [93182480, 93182566], [93183724, 93183792], [93198993, 93199160], [93214833, 93214972]] [[93183783, 93183792], [93198993, 93199131]]
ENST00000553802 [[93180768, 93180796], [93182480, 93182566], [93183724, 93183806], [93185118, 93185189], [93198993, 93199160], [93214833, 93214972]] [[93180768, 93180796], [93182480, 93182566], [93183724, 93183806], [93185118, 93185189], [93198993, 93199131]]
ENST00000557694 [[93182088, 93182566], [93183724, 93183806], [93185091, 93185189], [93198993, 93199160], [93214833, 93214957]] None
ENST00000554919 [[93185091, 93185189], [93198993, 93199160], [93208062, 93208204], [93214833, 93214972]] [[93185091, 93185189], [93198993, 93199131]]
ENST00000554397 [[93185091, 93185189], [93198993, 93199160], [93200026, 93200155], [93214833, 93214972]] [[93185091, 93185189], [93198993, 93199131]]
ENST00000554080 [[93185154, 93185189], [93198993, 93199160], [93200026, 93200155], [93207406, 93207524], [93214833, 93214972]] [[93185154, 93185189], [93198993, 93199131]]
ENST00000553371 [[93185155, 93185189], [93198993, 93199160], [93208049, 93208204], [93214833, 93214972]] [[93185155, 93185189], [93198993, 93199131]]
ENST00000555169 [[93170166, 93170592], [93182529, 93182566], [93183724, 93183804]] [[93170434, 93170592], [93182529, 93182566], [93183724, 93183804]]
ENST00000556790 [[93170620, 93170706], [93170984, 93171250]] None
ENST00000557725 [[93172697, 93172998], [93176016, 93176217], [93178003, 93178093], [93178181, 93178300], [93179149, 93179179]] None
ENST00000557315 [[93198740, 93199160], [93214833, 93214969]] None
ENST00000553918 [[93199072, 93199160], [93209253, 93209366], [93214833, 93214915]] [[93199072, 93199131]]
ENST00000557034 [[93207777, 93208204], [93214833, 93214971]] None
NM_001008530 [[93170151, 93170706], [93170984, 93171052], [93172827, 93172998], [93176016, 93176217], [93178003, 93178093], [93178181, 93178300], [93179149, 93179216], [93180167, 93180230], [93180720, 93180796], [93182480, 93182566], [93183724, 93183806], [93185091, 93185189], [93198993, 93199160], [93207406, 93207524], [93214833, 93215047]] [[93170663, 93170706], [93170984, 93171052], [93172827, 93172998], [93176016, 93176217], [93178003, 93178093], [93178181, 93178300], [93179149, 93179216], [93180167, 93180230], [93180720, 93180796], [93182480, 93182566], [93183724, 93183806], [93185091, 93185189], [93198993, 93199131]]
NM_005606 [[93170151, 93170706], [93170984, 93171052], [93172827, 93172998], [93176016, 93176217], [93178003, 93178093], [93178181, 93178300], [93179149, 93179216], [93180167, 93180230], [93180720, 93180796], [93182480, 93182566], [93183724, 93183806], [93185091, 93185189], [93198993, 93199160], [93214833, 93215047]] [[93170663, 93170706], [93170984, 93171052], [93172827, 93172998], [93176016, 93176217], [93178003, 93178093], [93178181, 93178300], [93179149, 93179216], [93180167, 93180230], [93180720, 93180796], [93182480, 93182566], [93183724, 93183806], [93185091, 93185189], [93198993, 93199131]]
Promoter
Chrom Start End Description
chr14 93179177 93179188 CAGE_peak_6_at_LGMN_5end
chr14 93214962 93214979 CAGE_peak_1_at_LGMN_5end
chr14 93214988 93215002 CAGE_peak_2_at_LGMN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I092562 92562909 92567515 1.34 [{'connected_gene': 'LGMN', 'score': 29.41}, {'connected_gene': 'RIN3', 'score': 11.94}, {'connected_gene': 'ATXN3', 'score': 1.23}, {'connected_gene': 'PIR35810', 'score': 0.39}, {'connected_gene': 'LOC105370707', 'score': 0.23}, {'connected_gene': 'GC14P092353', 'score': 0.08}]
chr14 GH14I092708 92708566 92709892 0.38 [{'connected_gene': 'LGMN', 'score': 11.92}, {'connected_gene': 'RIN3', 'score': 4.82}, {'connected_gene': 'GC14P092700', 'score': 0.44}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092774 92774453 92776461 0.94 [{'connected_gene': 'LGMN', 'score': 12.76}, {'connected_gene': 'CPSF2', 'score': 5.05}, {'connected_gene': 'GOLGA5', 'score': 0.37}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092767 92767637 92771623 0.94 [{'connected_gene': 'LGMN', 'score': 12.79}, {'connected_gene': 'CPSF2', 'score': 5.03}, {'connected_gene': 'GOLGA5', 'score': 0.34}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092749 92749837 92751471 0.82 [{'connected_gene': 'LGMN', 'score': 550.77}, {'connected_gene': 'GOLGA5', 'score': 0.26}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092753 92753376 92753525 0.43 [{'connected_gene': 'LGMN', 'score': 0.77}, {'connected_gene': 'GOLGA5', 'score': 0.26}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092759 92759336 92759485 0.6 [{'connected_gene': 'LGMN', 'score': 0.39}, {'connected_gene': 'GOLGA5', 'score': 0.29}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092779 92779001 92779201 0.6 [{'connected_gene': 'LGMN', 'score': 11.77}, {'connected_gene': 'GOLGA5', 'score': 0.37}, {'connected_gene': 'GC14P092353', 'score': 0.04}]
chr14 GH14I092760 92759769 92761165 0.69 [{'connected_gene': 'LGMN', 'score': 0.39}, {'connected_gene': 'GOLGA5', 'score': 0.29}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092702 92702401 92703000 0.96 [{'connected_gene': 'LGMN', 'score': 11.5}, {'connected_gene': 'GC14P092700', 'score': 0.77}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092728 92728856 92729045 0.57 [{'connected_gene': 'LGMN', 'score': 0.37}, {'connected_gene': 'GC14P092700', 'score': 0.31}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092746 92746103 92749265 2.21 [{'connected_gene': 'LGMN', 'score': 550.77}, {'connected_gene': 'GC14P092700', 'score': 0.25}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092736 92736853 92737993 0.69 [{'connected_gene': 'LGMN', 'score': 0.39}, {'connected_gene': 'GC14P092700', 'score': 0.28}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092729 92729601 92730511 0.89 [{'connected_gene': 'LGMN', 'score': 0.37}, {'connected_gene': 'GC14P092700', 'score': 0.31}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092703 92703819 92705295 1.14 [{'connected_gene': 'LGMN', 'score': 11.9}, {'connected_gene': 'GC14P092700', 'score': 0.77}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092783 92783601 92784200 0.77 [{'connected_gene': 'GOLGA5', 'score': 0.39}, {'connected_gene': 'LGMN', 'score': 0.28}, {'connected_gene': 'GC14P092353', 'score': 0.04}]
chr14 GH14I092792 92792599 92795776 2.07 [{'connected_gene': 'GOLGA5', 'score': 566.15}, {'connected_gene': 'ATXN3', 'score': 20.23}, {'connected_gene': 'CPSF2', 'score': 14.29}, {'connected_gene': 'BTBD7', 'score': 12.42}, {'connected_gene': 'TRIP11', 'score': 10.33}, {'connected_gene': 'LGMN', 'score': 0.25}, {'connected_gene': 'GC14P092353', 'score': 0.04}]
chr14 GH14I092784 92784940 92786813 1.16 [{'connected_gene': 'TMEM251', 'score': 9.55}, {'connected_gene': 'GOLGA5', 'score': 5.47}, {'connected_gene': 'CPSF2', 'score': 5.04}, {'connected_gene': 'SLC24A4', 'score': 3.16}, {'connected_gene': 'MOAP1', 'score': 1.72}, {'connected_gene': 'RIN3', 'score': 1.58}, {'connected_gene': 'GON7', 'score': 1.17}, {'connected_gene': 'LGMN', 'score': 0.28}, {'connected_gene': 'GC14P092353', 'score': 0.04}]
chr14 GH14I092723 92723409 92727272 1.34 [{'connected_gene': 'TMEM251', 'score': 26.67}, {'connected_gene': 'SLC24A4', 'score': 9.94}, {'connected_gene': 'RIN3', 'score': 7.81}, {'connected_gene': 'MOAP1', 'score': 3.84}, {'connected_gene': 'GON7', 'score': 1.85}, {'connected_gene': 'LGMN', 'score': 0.34}, {'connected_gene': 'GC14P092700', 'score': 0.31}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092727 92727426 92727690 0.47 [{'connected_gene': 'TMEM251', 'score': 6.61}, {'connected_gene': 'SLC24A4', 'score': 3.38}, {'connected_gene': 'RIN3', 'score': 3.0}, {'connected_gene': 'MOAP1', 'score': 1.92}, {'connected_gene': 'LGMN', 'score': 0.34}, {'connected_gene': 'GC14P092700', 'score': 0.31}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092714 92714836 92714985 0.63 [{'connected_gene': 'GC14P092700', 'score': 0.39}, {'connected_gene': 'LGMN', 'score': 0.29}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092717 92717113 92718206 0.54 [{'connected_gene': 'GC14P092700', 'score': 0.37}, {'connected_gene': 'LGMN', 'score': 0.29}, {'connected_gene': 'GC14P092353', 'score': 0.05}]
chr14 GH14I092719 92719443 92720777 0.82 [{'connected_gene': 'GC14P092700', 'score': 0.37}, {'connected_gene': 'LGMN', 'score': 0.31}, {'connected_gene': 'GC14P092353', 'score': 0.05}]

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