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
ENST00000226725 [[166128769, 166129054], [166141085, 166141211], [166149958, 166150065], [166159929, 166160051], [166184348, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166244305]] [[166129028, 166129054], [166141085, 166141211], [166149958, 166150065], [166159929, 166160051], [166184348, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166243212]]
ENST00000514860 [[166131044, 166131332], [166141085, 166141211], [166149958, 166150065], [166159929, 166160051], [166184348, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166243610]] [[166131294, 166131332], [166141085, 166141211], [166149958, 166150065], [166159929, 166160051], [166184348, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166243212]]
ENST00000538127 [[166131170, 166131332], [166141085, 166141211], [166159929, 166160051], [166184348, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166244308]] [[166159934, 166160051], [166184348, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166243212]]
ENST00000506824 [[166131187, 166131332], [166141085, 166141211], [166159929, 166160051], [166184348, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166244305]] [[166131294, 166131332], [166141085, 166141211], [166159929, 166159933]]
ENST00000421009 [[166141152, 166141211], [166149958, 166150065], [166184348, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166244097]] [[166149975, 166150065], [166184348, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166243212]]
ENST00000506541 [[166159927, 166160051], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231904]] None
ENST00000506761 [[166161499, 166161616], [166184348, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166243863]] [[166184465, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166243212]]
ENST00000509028 [[166184408, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166242463, 166242527], [166243183, 166243690]] None
ENST00000511305 [[166128974, 166129054], [166141085, 166141211], [166145089, 166145209], [166149958, 166150065], [166159929, 166159983]] [[166129028, 166129054], [166141085, 166141211], [166145089, 166145209], [166149958, 166150065], [166159929, 166159983]]
ENST00000509704 [[166130551, 166130614], [166140795, 166140874], [166141085, 166141211], [166149958, 166150065], [166159929, 166160051], [166184348, 166184433]] [[166141173, 166141211], [166149958, 166150065], [166159929, 166160051], [166184348, 166184433]]
NM_001331023 [[166128769, 166129054], [166141085, 166141211], [166184348, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166244308]] [[166184465, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166243212]]
NM_001331024 [[166128769, 166129054], [166141085, 166141211], [166149958, 166150065], [166184348, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166244308]] [[166149975, 166150065], [166184348, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166243212]]
NM_007246 [[166128769, 166129054], [166141085, 166141211], [166149958, 166150065], [166159929, 166160051], [166184348, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166244308]] [[166129028, 166129054], [166141085, 166141211], [166149958, 166150065], [166159929, 166160051], [166184348, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166243212]]
NM_001161522 [[166131170, 166131332], [166141085, 166141211], [166159929, 166160051], [166184348, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166244308]] [[166159934, 166160051], [166184348, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166243212]]
NM_001161521 [[166131170, 166131332], [166141085, 166141211], [166149958, 166150065], [166159929, 166160051], [166184348, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166244308]] [[166131294, 166131332], [166141085, 166141211], [166149958, 166150065], [166159929, 166160051], [166184348, 166184511], [166215510, 166215620], [166218760, 166218877], [166220658, 166220808], [166226759, 166226877], [166231704, 166231902], [166232615, 166232717], [166234389, 166234518], [166235177, 166235318], [166238977, 166239121], [166243183, 166243212]]
Promoter
Chrom Start End Description
chr4 166128610 166128628 CAGE_peak_4_at_KLHL2_5end
chr4 166128705 166128719 CAGE_peak_3_at_KLHL2_5end
chr4 166128735 166128813 CAGE_peak_1_at_KLHL2_5end
chr4 166128818 166128835 CAGE_peak_2_at_KLHL2_5end
chr4 166128836 166128839 CAGE_peak_5_at_KLHL2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I165288 165288401 165289135 0.57 [{'connected_gene': 'MSMO1', 'score': 11.64}, {'connected_gene': 'GC04M165293', 'score': 0.77}, {'connected_gene': 'GK3P', 'score': 0.44}, {'connected_gene': 'KLHL2', 'score': 0.18}]
chr4 GH04I165323 165323078 165331128 2.49 [{'connected_gene': 'MSMO1', 'score': 550.77}, {'connected_gene': 'KLHL2', 'score': 39.23}, {'connected_gene': 'TMEM192', 'score': 10.87}, {'connected_gene': 'NACA3P', 'score': 10.44}, {'connected_gene': 'CPE', 'score': 5.18}, {'connected_gene': 'GC04M165293', 'score': 0.29}]
chr4 GH04I165308 165308309 165308458 0.2 [{'connected_gene': 'MSMO1', 'score': 0.37}, {'connected_gene': 'GC04M165293', 'score': 0.37}, {'connected_gene': 'KLHL2', 'score': 0.15}]
chr4 GH04I165309 165308600 165308801 0.2 [{'connected_gene': 'MSMO1', 'score': 0.37}, {'connected_gene': 'GC04M165293', 'score': 0.37}, {'connected_gene': 'KLHL2', 'score': 0.15}]
chr4 GH04I165111 165111800 165114141 2.02 [{'connected_gene': 'TMEM192', 'score': 567.85}, {'connected_gene': 'KLHL2', 'score': 16.25}, {'connected_gene': 'TLL1', 'score': 10.57}, {'connected_gene': 'TRIM75P', 'score': 0.23}]
chr4 GH04I165257 165257201 165257600 0.2 [{'connected_gene': 'TMEM192', 'score': 12.36}, {'connected_gene': 'KLHL2', 'score': 12.36}, {'connected_gene': 'MSMO1', 'score': 11.36}, {'connected_gene': 'RNU4-87P', 'score': 0.77}, {'connected_gene': 'GK3P', 'score': 0.34}]
chr4 GH04I165206 165206353 165208801 1.86 [{'connected_gene': 'TMEM192', 'score': 550.77}, {'connected_gene': 'KLHL2', 'score': 550.77}, {'connected_gene': 'TRIM75P', 'score': 0.11}]
chr4 GH04I165203 165203801 165204837 0.59 [{'connected_gene': 'TMEM192', 'score': 0.77}, {'connected_gene': 'KLHL2', 'score': 0.77}, {'connected_gene': 'TRIM75P', 'score': 0.11}]
chr4 GH04I165209 165209832 165209891 0.5 [{'connected_gene': 'TMEM192', 'score': 550.77}, {'connected_gene': 'KLHL2', 'score': 550.77}, {'connected_gene': 'GC04P165222', 'score': 0.39}]
chr4 GH04I165210 165210001 165210200 0.2 [{'connected_gene': 'TMEM192', 'score': 550.77}, {'connected_gene': 'KLHL2', 'score': 0.77}, {'connected_gene': 'GC04P165222', 'score': 0.39}]
chr4 GH04I165378 165378257 165380338 1.96 [{'connected_gene': 'CPE', 'score': 550.37}, {'connected_gene': 'NACA3P', 'score': 12.63}, {'connected_gene': 'KLHL2', 'score': 11.55}, {'connected_gene': 'RPL21P51', 'score': 10.09}, {'connected_gene': 'GC04P165387', 'score': 0.44}]
chr4 GH04I165501 165501270 165501532 0.24 [{'connected_gene': 'CPE', 'score': 6.31}, {'connected_gene': 'KLHL2', 'score': 1.17}, {'connected_gene': 'LOC105377520', 'score': 0.77}, {'connected_gene': 'GC04P165491', 'score': 0.39}]
chr4 GH04I165369 165369168 165371052 0.91 [{'connected_gene': 'CPE', 'score': 7.24}, {'connected_gene': 'KLHL2', 'score': 6.92}, {'connected_gene': 'GC04P165387', 'score': 0.37}]
chr4 GH04I165214 165214402 165216399 0.83 [{'connected_gene': 'KLHL2', 'score': 38.89}, {'connected_gene': 'MSMO1', 'score': 10.83}, {'connected_gene': 'TMEM192', 'score': 0.44}, {'connected_gene': 'GC04P165222', 'score': 0.44}]
chr4 GH04I165286 165286601 165287400 0.2 [{'connected_gene': 'KLHL2', 'score': 28.98}, {'connected_gene': 'GC04M165293', 'score': 0.44}, {'connected_gene': 'GK3P', 'score': 0.44}]
chr4 GH04I165132 165132983 165133862 0.4 [{'connected_gene': 'KLHL2', 'score': 11.92}, {'connected_gene': 'TMEM192', 'score': 11.91}, {'connected_gene': 'MSMO1', 'score': 10.57}, {'connected_gene': 'TRIM75P', 'score': 0.19}]
chr4 GH04I165255 165255001 165256782 0.89 [{'connected_gene': 'KLHL2', 'score': 49.41}, {'connected_gene': 'TMEM192', 'score': 12.36}, {'connected_gene': 'MSMO1', 'score': 11.36}, {'connected_gene': 'RNU4-87P', 'score': 0.77}, {'connected_gene': 'GK3P', 'score': 0.34}]
chr4 GH04I165211 165210539 165210598 0.73 [{'connected_gene': 'KLHL2', 'score': 550.77}, {'connected_gene': 'TMEM192', 'score': 0.77}, {'connected_gene': 'GC04P165222', 'score': 0.39}]
chr4 GH04I165363 165363751 165365965 0.69 [{'connected_gene': 'KLHL2', 'score': 11.28}, {'connected_gene': 'CPE', 'score': 0.77}, {'connected_gene': 'GC04P165387', 'score': 0.34}]
chr4 GH04I165293 165293201 165293400 0.2 [{'connected_gene': 'GC04M165293', 'score': 550.77}, {'connected_gene': 'MSMO1', 'score': 11.66}, {'connected_gene': 'GK3P', 'score': 0.39}, {'connected_gene': 'KLHL2', 'score': 0.17}]
chr4 GH04I165301 165301401 165302400 0.62 [{'connected_gene': 'GC04M165293', 'score': 0.44}, {'connected_gene': 'MSMO1', 'score': 0.31}, {'connected_gene': 'KLHL2', 'score': 0.16}]
chr4 GH04I165299 165299337 165300000 0.54 [{'connected_gene': 'GC04M165293', 'score': 0.44}, {'connected_gene': 'MSMO1', 'score': 0.31}, {'connected_gene': 'KLHL2', 'score': 0.16}]
chr4 GH04I165294 165294601 165295600 0.8 [{'connected_gene': 'GC04M165293', 'score': 550.77}, {'connected_gene': 'MSMO1', 'score': 0.29}, {'connected_gene': 'KLHL2', 'score': 0.17}]
chr4 GH04I165221 165221402 165223642 0.8 [{'connected_gene': 'GC04P165222', 'score': 550.77}, {'connected_gene': 'KLHL2', 'score': 39.75}, {'connected_gene': 'GC04P165253', 'score': 0.29}]
chr4 GH04I165248 165248401 165248800 0.2 [{'connected_gene': 'GC04P165253', 'score': 0.77}, {'connected_gene': 'GC04P165222', 'score': 0.31}, {'connected_gene': 'KLHL2', 'score': 0.26}]

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