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
ENST00000316423 [[39500374, 39501873], [39505494, 39505605], [39506036, 39506128], [39506856, 39506990], [39507237, 39507368], [39510185, 39510280], [39511379, 39511527], [39511972, 39512170], [39512280, 39512481], [39515702, 39515804], [39522970, 39523139], [39528902, 39529238]] [[39501762, 39501873], [39505494, 39505605], [39506036, 39506128], [39506856, 39506990], [39507237, 39507368], [39510185, 39510280], [39511379, 39511527], [39511972, 39512170], [39512280, 39512481], [39515702, 39515804], [39522970, 39523132]]
ENST00000501493 [[39500382, 39501873], [39505494, 39505605], [39506036, 39506128], [39506856, 39506990], [39507237, 39507368], [39510185, 39510280], [39511379, 39511527], [39511972, 39512170], [39515702, 39515804], [39522970, 39523139], [39528902, 39529057]] [[39501762, 39501873], [39505494, 39505605], [39506036, 39506128], [39506856, 39506990], [39507237, 39507368], [39510185, 39510280], [39511379, 39511527], [39511972, 39512170], [39515702, 39515804], [39522970, 39523132]]
ENST00000506179 [[39500407, 39501873], [39505494, 39505605], [39506036, 39506128], [39506856, 39506990], [39507237, 39507368], [39510185, 39510280], [39511379, 39511527], [39511972, 39512170], [39512280, 39512481], [39515702, 39515804], [39522970, 39523139], [39528003, 39528177]] [[39501762, 39501873], [39505494, 39505605], [39506036, 39506128], [39506856, 39506990], [39507237, 39507368], [39510185, 39510280], [39511379, 39511527], [39511972, 39512170], [39512280, 39512481], [39515702, 39515804], [39522970, 39523132]]
ENST00000507089 [[39501530, 39501873], [39505494, 39505605], [39506036, 39506128], [39506856, 39506990], [39507237, 39507368], [39510185, 39510280], [39511379, 39511527], [39511972, 39512170], [39512280, 39512481], [39515702, 39515804], [39528902, 39529059]] [[39501762, 39501873], [39505494, 39505605], [39506036, 39506128], [39506856, 39506990], [39507237, 39507368], [39510185, 39510280], [39511379, 39511527], [39511972, 39512170], [39512280, 39512454]]
ENST00000515021 [[39512130, 39512170], [39512280, 39512481], [39515702, 39515804], [39522970, 39523139], [39528672, 39528739], [39528902, 39529184]] [[39512130, 39512170], [39512280, 39512481], [39515702, 39515804], [39522970, 39523139], [39528672, 39528704]]
ENST00000514106 [[39512286, 39512481], [39515702, 39515804], [39522970, 39523139], [39529418, 39529520]] [[39512286, 39512481], [39515702, 39515804], [39522970, 39523132]]
ENST00000510881 [[39512316, 39512481], [39515702, 39515800], [39522970, 39523139], [39529418, 39529535]] [[39515794, 39515800], [39522970, 39523132]]
ENST00000503779 [[39512328, 39512481], [39515702, 39515800], [39522970, 39523139], [39528902, 39529057]] [[39515794, 39515800], [39522970, 39523132]]
ENST00000509391 [[39512355, 39512481], [39515702, 39515804], [39522970, 39523164], [39528902, 39529057]] [[39512355, 39512481], [39515702, 39515804], [39522970, 39523132]]
ENST00000515398 [[39512434, 39512481], [39515702, 39515804], [39529418, 39529853]] None
ENST00000505698 [[39515712, 39515804], [39522970, 39523139], [39529759, 39529931]] [[39515712, 39515804], [39522970, 39523132]]
ENST00000510490 [[39522971, 39523139], [39528852, 39529218]] [[39522971, 39523132]]
NM_001184700 [[39500374, 39501873], [39505494, 39505605], [39506036, 39506128], [39506856, 39506990], [39507237, 39507368], [39510185, 39510280], [39511379, 39511527], [39511972, 39512170], [39515702, 39515804], [39522970, 39523139], [39528902, 39529218]] [[39501762, 39501873], [39505494, 39505605], [39506036, 39506128], [39506856, 39506990], [39507237, 39507368], [39510185, 39510280], [39511379, 39511527], [39511972, 39512170], [39515702, 39515804], [39522970, 39523132]]
NM_003359 [[39500375, 39501873], [39505494, 39505605], [39506036, 39506128], [39506856, 39506990], [39507237, 39507368], [39510185, 39510280], [39511379, 39511527], [39511972, 39512170], [39512280, 39512481], [39515702, 39515804], [39522970, 39523139], [39528902, 39529218]] [[39501762, 39501873], [39505494, 39505605], [39506036, 39506128], [39506856, 39506990], [39507237, 39507368], [39510185, 39510280], [39511379, 39511527], [39511972, 39512170], [39512280, 39512481], [39515702, 39515804], [39522970, 39523132]]
NM_001184701 [[39500375, 39501873], [39505494, 39505605], [39506036, 39506128], [39506856, 39506990], [39507237, 39507368], [39510185, 39510280], [39511379, 39511527], [39511972, 39512170], [39512280, 39512481], [39515702, 39515804], [39528902, 39529218]] [[39501762, 39501873], [39505494, 39505605], [39506036, 39506128], [39506856, 39506990], [39507237, 39507368], [39510185, 39510280], [39511379, 39511527], [39511972, 39512170], [39512280, 39512454]]
Promoter
Chrom Start End Description
chr4 39501682 39501693 CAGE_peak_24_at_UGDH_5end
chr4 39501708 39501730 CAGE_peak_3_at_UGDH_5end
chr4 39512064 39512077 CAGE_peak_11_at_UGDH_5end
chr4 39529005 39529014 CAGE_peak_4_at_UGDH_5end
chr4 39529049 39529067 CAGE_peak_1_at_UGDH_5end
chr4 39529153 39529164 CAGE_peak_2_at_UGDH_5end
chr4 39529180 39529187 CAGE_peak_5_at_UGDH_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I039515 39514139 39514198 0.5 [{'connected_gene': 'UGDH', 'score': 550.39}, {'connected_gene': 'SMIM14', 'score': 11.35}, {'connected_gene': 'LOC105374419', 'score': 11.35}, {'connected_gene': 'UGDH-AS1', 'score': 0.39}, {'connected_gene': 'GC04M039495', 'score': 0.39}]
chr4 GH04I039546 39546638 39546886 0.22 [{'connected_gene': 'RPL9', 'score': 11.15}, {'connected_gene': 'SMIM14', 'score': 10.77}, {'connected_gene': 'LOC105374419', 'score': 10.77}, {'connected_gene': 'KLHL5', 'score': 1.71}, {'connected_gene': 'GC04M039547', 'score': 0.77}, {'connected_gene': 'UGDH-AS1', 'score': 0.37}, {'connected_gene': 'UGDH', 'score': 0.37}]
chr4 GH04I039520 39520742 39525313 0.85 [{'connected_gene': 'RPL9', 'score': 13.11}, {'connected_gene': 'SMIM14', 'score': 12.13}, {'connected_gene': 'LOC105374419', 'score': 12.13}, {'connected_gene': 'UGDH-AS1', 'score': 8.82}, {'connected_gene': 'UGDH', 'score': 5.07}, {'connected_gene': 'GC04M039495', 'score': 0.37}]
chr4 GH04I039538 39538318 39545639 0.85 [{'connected_gene': 'WDR19', 'score': 18.64}, {'connected_gene': 'RFC1', 'score': 14.75}, {'connected_gene': 'RPL9', 'score': 12.96}, {'connected_gene': 'KLF3-AS1', 'score': 12.23}, {'connected_gene': 'PDS5A', 'score': 12.09}, {'connected_gene': 'RNU7-11P', 'score': 12.01}, {'connected_gene': 'SMIM14', 'score': 11.29}, {'connected_gene': 'LOC105374419', 'score': 11.29}, {'connected_gene': 'N4BP2', 'score': 10.55}, {'connected_gene': 'UGDH-AS1', 'score': 10.36}, {'connected_gene': 'GC04M039547', 'score': 0.44}, {'connected_gene': 'UGDH', 'score': 0.39}]
chr4 GH04I039514 39514291 39516131 1.19 [{'connected_gene': 'SMIM14', 'score': 11.35}, {'connected_gene': 'LOC105374419', 'score': 11.35}, {'connected_gene': 'KLF3-AS1', 'score': 10.34}, {'connected_gene': 'WDR19', 'score': 9.87}, {'connected_gene': 'UGDH-AS1', 'score': 8.52}, {'connected_gene': 'LOC401127', 'score': 6.06}, {'connected_gene': 'UGDH', 'score': 5.64}, {'connected_gene': 'RPL9', 'score': 5.04}, {'connected_gene': 'GC04M039495', 'score': 0.39}]
chr4 GH04I039525 39525715 39529813 2.08 [{'connected_gene': 'UGDH-AS1', 'score': 559.82}, {'connected_gene': 'UGDH', 'score': 556.97}, {'connected_gene': 'SMIM14', 'score': 12.14}, {'connected_gene': 'LOC105374419', 'score': 12.14}, {'connected_gene': 'RPL9', 'score': 4.99}, {'connected_gene': 'GC04M039495', 'score': 0.34}]
chr4 GH04I039501 39501411 39503707 0.59 [{'connected_gene': 'GC04M039495', 'score': 550.77}, {'connected_gene': 'RPL9', 'score': 13.09}, {'connected_gene': 'UGDH', 'score': 5.98}, {'connected_gene': 'LOC401127', 'score': 0.34}]
chr4 GH04I039548 39548761 39548810 0.57 [{'connected_gene': 'GC04M039547', 'score': 550.77}, {'connected_gene': 'SMIM14', 'score': 11.09}, {'connected_gene': 'LOC105374419', 'score': 11.09}, {'connected_gene': 'UGDH-AS1', 'score': 0.34}, {'connected_gene': 'UGDH', 'score': 0.34}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.