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
ENST00000341846 [[119981982, 119983184], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119993661, 119993763], [119996398, 119996597], [119998043, 119998277], [119999107, 119999203], [120007935, 120009161]] [[119983121, 119983184], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119993661, 119993763], [119996398, 119996597], [119998043, 119998277], [119999107, 119999203], [120007935, 120008739]]
ENST00000524816 [[119982005, 119983184], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119993661, 119993763], [119993897, 119993979]] [[119983121, 119983184], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119993661, 119993763], [119993897, 119993928]]
ENST00000541857 [[119982712, 119983184], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119993661, 119993763], [119996398, 119996597], [119998043, 119998277], [119999107, 119999203], [119999411, 119999577]] [[119983121, 119983184], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119993661, 119993763], [119996398, 119996597], [119998043, 119998277], [119999107, 119999203], [119999411, 119999414]]
ENST00000526161 [[119983117, 119983184], [119986045, 119987814]] None
ENST00000530919 [[119983117, 119983184], [119986045, 119986122], [119987666, 119988749]] None
ENST00000524664 [[119983117, 119983184], [119986045, 119986122], [119988930, 119989029], [119989533, 119989575]] None
ENST00000525887 [[119983117, 119983184], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119992072, 119992701]] None
ENST00000533302 [[119983117, 119983184], [119986045, 119986122], [119987666, 119987765], [119988930, 119989029], [119991280, 119991373], [119993661, 119993740]] [[119983121, 119983184], [119986045, 119986122], [119987666, 119987765], [119988930, 119989029], [119991280, 119991373], [119993661, 119993740]]
ENST00000531555 [[119983117, 119983184], [119984244, 119984363], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119993661, 119993741]] [[119984354, 119984363], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119993661, 119993741]]
ENST00000525327 [[119983117, 119983184], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119993661, 119993763], [119994040, 119994150]] [[119983121, 119983184], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119993661, 119993763], [119994040, 119994150]]
ENST00000528870 [[119983117, 119983184], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119993661, 119993763], [119994507, 119996286]] [[119983121, 119983184], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119993661, 119993695]]
ENST00000529044 [[119983117, 119983184], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119993661, 119993763], [119996398, 119996597], [119998043, 119998277], [119999107, 119999203], [119999355, 119999621]] [[119983121, 119983184], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119993661, 119993763], [119996398, 119996597], [119998043, 119998277], [119999107, 119999203], [119999355, 119999376]]
ENST00000475051 [[119983117, 119983184], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119993661, 119993763], [119996398, 119996597], [119998043, 119998277], [119999107, 119999203], [120007935, 120008394], [120008546, 120008822]] [[120008077, 120008394], [120008546, 120008739]]
ENST00000524956 [[119986047, 119986122], [119988930, 119989029], [119991280, 119991373], [119992641, 119992688]] [[119986047, 119986122], [119988930, 119989029], [119991280, 119991373], [119992641, 119992688]]
ENST00000526881 [[119986071, 119986122], [119988930, 119989029], [119991280, 119991373], [119991466, 119991608]] [[119986071, 119986122], [119988930, 119989029], [119991280, 119991373], [119991466, 119991506]]
ENST00000530470 [[119993659, 119993763], [119996398, 119997065]] None
ENST00000532195 [[119998115, 119998277], [119999107, 119999618]] None
ENST00000529011 [[120008447, 120008853], [120009020, 120009161]] [[120008447, 120008739]]
ENST00000529495 [[120008454, 120008853], [120009777, 120009905], [120010506, 120010530]] [[120008454, 120008739]]
ENST00000532833 [[120008472, 120008853], [120055957, 120056131]] [[120008472, 120008739]]
ENST00000529040 [[120008624, 120008853], [120055917, 120056237]] [[120008624, 120008739]]
NM_001330382 [[119981982, 119983184], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119993661, 119993763], [119996398, 119996597], [119998043, 119998277], [119999107, 119999203], [119999355, 119999621]] [[119983121, 119983184], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119993661, 119993763], [119996398, 119996597], [119998043, 119998277], [119999107, 119999203], [119999355, 119999376]]
NM_012101 [[119981993, 119983184], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119993661, 119993763], [119996398, 119996597], [119998043, 119998277], [119999107, 119999203], [120007935, 120008863]] [[119983121, 119983184], [119986045, 119986122], [119988930, 119989029], [119991280, 119991373], [119993661, 119993763], [119996398, 119996597], [119998043, 119998277], [119999107, 119999203], [120007935, 120008739]]
Promoter
Chrom Start End Description
chr11 119991589 119991609 CAGE_peak_19_at_TRIM29_5end
chr11 119991638 119991645 CAGE_peak_61_at_TRIM29_5end
chr11 119993734 119993778 CAGE_peak_2_at_TRIM29_5end
chr11 119993797 119993810 CAGE_peak_6_at_TRIM29_5end
chr11 119994013 119994021 CAGE_peak_50_at_TRIM29_5end
chr11 119994605 119994622 CAGE_peak_5_at_TRIM29_5end
chr11 119994643 119994655 CAGE_peak_10_at_TRIM29_5end
chr11 119994874 119994881 CAGE_peak_48_at_TRIM29_5end
chr11 119999153 119999163 CAGE_peak_24_at_TRIM29_5end
chr11 119999506 119999529 CAGE_peak_7_at_TRIM29_5end
chr11 119999539 119999579 CAGE_peak_3_at_TRIM29_5end
chr11 119999611 119999625 CAGE_peak_9_at_TRIM29_5end
chr11 120008074 120008088 CAGE_peak_13_at_TRIM29_5end
chr11 120008813 120008831 CAGE_peak_1_at_TRIM29_5end
chr11 120008848 120008862 CAGE_peak_4_at_TRIM29_5end
chr11 120008883 120008884 CAGE_peak_16_at_TRIM29_5end
chr11 120008947 120008960 CAGE_peak_12_at_TRIM29_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I119683 119683143 119687800 1.34 [{'connected_gene': 'NECTIN1', 'score': 1.75}, {'connected_gene': 'TRIM29', 'score': 1.64}, {'connected_gene': 'LOC105369525', 'score': 0.34}, {'connected_gene': 'RNU6-1123P', 'score': 0.31}]
chr11 GH11I119690 119690165 119702813 1.51 [{'connected_gene': 'CCDC153', 'score': 4.94}, {'connected_gene': 'NECTIN1', 'score': 2.54}, {'connected_gene': 'TRIM29', 'score': 1.94}, {'connected_gene': 'LOC105369525', 'score': 0.39}, {'connected_gene': 'RNU6-1123P', 'score': 0.26}]
chr11 GH11I120077 120077133 120081814 0.68 [{'connected_gene': 'HINFP', 'score': 15.98}, {'connected_gene': 'TMEM136', 'score': 10.86}, {'connected_gene': 'RNU6-1123P', 'score': 10.71}, {'connected_gene': 'OAF', 'score': 5.24}, {'connected_gene': 'TRIM29', 'score': 4.94}, {'connected_gene': 'LOC105378956', 'score': 0.34}, {'connected_gene': 'LOC105369527', 'score': 0.23}]
chr11 GH11I120217 120217545 120222295 0.91 [{'connected_gene': 'POU2F3', 'score': 30.75}, {'connected_gene': 'TRIM29', 'score': 16.62}, {'connected_gene': 'ENSG00000176984', 'score': 12.0}, {'connected_gene': 'TMEM136', 'score': 10.55}, {'connected_gene': 'OAF', 'score': 5.57}]
chr11 GH11I120280 120280050 120282139 0.86 [{'connected_gene': 'POU2F3', 'score': 16.87}, {'connected_gene': 'TMEM136', 'score': 11.39}, {'connected_gene': 'TRIM29', 'score': 11.25}, {'connected_gene': 'ARHGEF12', 'score': 9.79}, {'connected_gene': 'LOC105369520', 'score': 9.7}, {'connected_gene': 'GC11P120275', 'score': 0.44}, {'connected_gene': 'LOC105369531', 'score': 0.39}]
chr11 GH11I120181 120181821 120190865 1.34 [{'connected_gene': 'TRIM29', 'score': 560.61}, {'connected_gene': 'RNF26', 'score': 22.72}, {'connected_gene': 'OAF', 'score': 18.11}, {'connected_gene': 'POU2F3', 'score': 12.1}, {'connected_gene': 'ENSG00000176984', 'score': 5.28}, {'connected_gene': 'LOC105369530', 'score': 0.77}]
chr11 GH11I120310 120310972 120311121 0.31 [{'connected_gene': 'TRIM29', 'score': 10.53}, {'connected_gene': 'ARHGEF12', 'score': 10.11}, {'connected_gene': 'GC11P120299', 'score': 0.39}, {'connected_gene': 'TMEM136', 'score': 0.39}, {'connected_gene': 'POU2F3', 'score': 0.19}]
chr11 GH11I120119 120119815 120126095 1.02 [{'connected_gene': 'TRIM29', 'score': 14.38}, {'connected_gene': 'OAF', 'score': 8.61}, {'connected_gene': 'GRIK4', 'score': 4.46}, {'connected_gene': 'LOC105369529', 'score': 0.44}, {'connected_gene': 'LOC105378956', 'score': 0.34}]
chr11 GH11I120205 120205693 120205882 0.57 [{'connected_gene': 'TRIM29', 'score': 13.15}, {'connected_gene': 'ENSG00000176984', 'score': 11.95}, {'connected_gene': 'OAF', 'score': 0.77}, {'connected_gene': 'LOC105369530', 'score': 0.37}]
chr11 GH11I120177 120177106 120179562 0.46 [{'connected_gene': 'TRIM29', 'score': 23.94}, {'connected_gene': 'OAF', 'score': 14.83}, {'connected_gene': 'ENSG00000176984', 'score': 0.44}]
chr11 GH11I120215 120215381 120216373 1.1 [{'connected_gene': 'TRIM29', 'score': 12.36}, {'connected_gene': 'ENSG00000176984', 'score': 11.97}, {'connected_gene': 'TMEM136', 'score': 10.55}, {'connected_gene': 'POU2F3', 'score': 4.6}, {'connected_gene': 'OAF', 'score': 0.44}]
chr11 GH11I120104 120104996 120111244 0.72 [{'connected_gene': 'TRIM29', 'score': 18.13}, {'connected_gene': 'ENSG00000255216', 'score': 10.94}, {'connected_gene': 'RNU6-1123P', 'score': 10.85}, {'connected_gene': 'OAF', 'score': 7.22}, {'connected_gene': 'LOC105378956', 'score': 0.44}, {'connected_gene': 'LOC105369529', 'score': 0.34}]
chr11 GH11I120131 120131409 120139160 1.22 [{'connected_gene': 'TRIM29', 'score': 588.35}, {'connected_gene': 'RNU6-1123P', 'score': 10.88}, {'connected_gene': 'ENSG00000255216', 'score': 10.06}, {'connected_gene': 'OAF', 'score': 9.71}, {'connected_gene': 'LOC105369529', 'score': 0.44}, {'connected_gene': 'ENSG00000176984', 'score': 0.29}]
chr11 GH11I120140 120140960 120143142 0.46 [{'connected_gene': 'TRIM29', 'score': 30.19}, {'connected_gene': 'ENSG00000176984', 'score': 12.23}, {'connected_gene': 'RNU6-1123P', 'score': 10.88}, {'connected_gene': 'LOC105369529', 'score': 0.39}]
chr11 GH11I119889 119889021 119892949 1.09 [{'connected_gene': 'TRIM29', 'score': 4.52}, {'connected_gene': 'LOC105369526', 'score': 0.39}, {'connected_gene': 'GC11P119841', 'score': 0.25}]
chr11 GH11I120172 120172353 120172502 0.76 [{'connected_gene': 'TRIM29', 'score': 8.14}, {'connected_gene': 'ENSG00000176984', 'score': 0.77}]
chr11 GH11I120207 120207704 120214633 2.49 [{'connected_gene': 'OAF', 'score': 561.03}, {'connected_gene': 'POU2F3', 'score': 29.09}, {'connected_gene': 'TRIM29', 'score': 20.21}, {'connected_gene': 'ENSG00000176984', 'score': 11.94}, {'connected_gene': 'ARHGEF12', 'score': 1.87}, {'connected_gene': 'GRIK4', 'score': 1.25}]
chr11 GH11I120180 120180225 120181202 0.89 [{'connected_gene': 'OAF', 'score': 15.85}, {'connected_gene': 'TRIM29', 'score': 0.77}, {'connected_gene': 'ENSG00000176984', 'score': 0.39}]
chr11 GH11I120195 120195339 120202709 1.09 [{'connected_gene': 'OAF', 'score': 15.48}, {'connected_gene': 'ENSG00000176984', 'score': 12.7}, {'connected_gene': 'TMEM136', 'score': 10.8}, {'connected_gene': 'TRIM29', 'score': 5.76}, {'connected_gene': 'LOC105369530', 'score': 0.39}]
chr11 GH11I120072 120072859 120074997 0.58 [{'connected_gene': 'RNU6-1123P', 'score': 10.71}, {'connected_gene': 'TRIM29', 'score': 4.59}, {'connected_gene': 'LOC105378956', 'score': 0.31}, {'connected_gene': 'LOC105369527', 'score': 0.25}]
chr11 GH11I120128 120127512 120130661 1.11 [{'connected_gene': 'LOC105369529', 'score': 550.77}, {'connected_gene': 'TRIM29', 'score': 38.17}, {'connected_gene': 'OAF', 'score': 10.69}, {'connected_gene': 'ENSG00000176984', 'score': 0.28}]
chr11 GH11I120127 120127389 120127462 0.51 [{'connected_gene': 'LOC105369529', 'score': 550.77}, {'connected_gene': 'LOC105378956', 'score': 0.31}, {'connected_gene': 'TRIM29', 'score': 0.22}]
chr11 GH11I120143 120143800 120148726 0.46 [{'connected_gene': 'ENSG00000176984', 'score': 12.26}, {'connected_gene': 'TRIM29', 'score': 8.26}, {'connected_gene': 'OAF', 'score': 7.83}, {'connected_gene': 'LOC105369529', 'score': 0.37}]
chr11 GH11I120249 120248732 120248741 0.74 [{'connected_gene': 'ENSG00000176984', 'score': 11.24}, {'connected_gene': 'TRIM29', 'score': 10.98}, {'connected_gene': 'TMEM136', 'score': 10.52}, {'connected_gene': 'ARHGEF12', 'score': 10.0}, {'connected_gene': 'POU2F3', 'score': 0.39}, {'connected_gene': 'LOC649133', 'score': 0.37}]
chr11 GH11I120248 120248772 120248881 0.77 [{'connected_gene': 'ENSG00000176984', 'score': 11.4}, {'connected_gene': 'TRIM29', 'score': 10.98}, {'connected_gene': 'TMEM136', 'score': 10.63}, {'connected_gene': 'ARHGEF12', 'score': 10.0}, {'connected_gene': 'RNU6-1123P', 'score': 9.28}, {'connected_gene': 'POU2F3', 'score': 0.39}, {'connected_gene': 'LOC649133', 'score': 0.37}]
chr11 GH11I120168 120168733 120169684 1.5 [{'connected_gene': 'ENSG00000176984', 'score': 550.77}, {'connected_gene': 'OAF', 'score': 14.89}, {'connected_gene': 'RNF26', 'score': 13.69}, {'connected_gene': 'TRIM29', 'score': 0.37}]
chr11 GH11I120093 120093250 120093843 0.38 [{'connected_gene': 'ENSG00000255216', 'score': 11.08}, {'connected_gene': 'RNU6-1123P', 'score': 10.82}, {'connected_gene': 'LOC105369525', 'score': 10.44}, {'connected_gene': 'TRIM29', 'score': 6.8}, {'connected_gene': 'LOC105378956', 'score': 0.44}, {'connected_gene': 'LOC105369527', 'score': 0.2}]
chr11 GH11I120096 120096377 120098403 0.94 [{'connected_gene': 'ENSG00000255216', 'score': 11.07}, {'connected_gene': 'RNU6-1123P', 'score': 10.85}, {'connected_gene': 'LOC105369525', 'score': 10.44}, {'connected_gene': 'TRIM29', 'score': 6.38}, {'connected_gene': 'LOC105378956', 'score': 0.77}, {'connected_gene': 'LOC105369527', 'score': 0.19}]
chr11 GH11I120148 120148736 120149268 0.2 [{'connected_gene': 'ENSG00000176984', 'score': 0.37}, {'connected_gene': 'LOC105369529', 'score': 0.34}, {'connected_gene': 'TRIM29', 'score': 0.28}]
chr11 GH11I120149 120149323 120149897 0.2 [{'connected_gene': 'ENSG00000176984', 'score': 0.37}, {'connected_gene': 'LOC105369529', 'score': 0.34}, {'connected_gene': 'TRIM29', 'score': 0.28}]

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