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
ENST00000475184 [[33218751, 33218972], [33221442, 33221528], [33224419, 33224486], [33294542, 33294720]] [[33218751, 33218972], [33221442, 33221528], [33224419, 33224486]]
ENST00000423113 [[33189246, 33190563], [33195990, 33196071], [33197295, 33197462], [33199150, 33199383], [33200375, 33200598], [33200813, 33201052], [33208812, 33209012], [33209172, 33209313], [33211184, 33211274], [33211567, 33211663], [33212512, 33212668], [33214798, 33215037], [33217021, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486]] [[33195996, 33196071], [33197295, 33197462], [33199150, 33199383], [33200375, 33200598], [33200813, 33201052], [33208812, 33209012], [33209172, 33209313], [33211184, 33211274], [33211567, 33211663], [33212512, 33212668], [33214798, 33215037], [33217021, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486]]
ENST00000396033 [[33189246, 33190563], [33197295, 33197462], [33199150, 33199383], [33200375, 33200598], [33200813, 33201052], [33208812, 33209012], [33209172, 33209313], [33211184, 33211274], [33211567, 33211663], [33212512, 33212668], [33214798, 33215037], [33217021, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486], [33246686, 33246822]] [[33190497, 33190563], [33197295, 33197462], [33199150, 33199383], [33200375, 33200598], [33200813, 33201052], [33208812, 33209012], [33209172, 33209313], [33211184, 33211274], [33211567, 33211663], [33212512, 33212668], [33214798, 33215037], [33217021, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486]]
ENST00000302278 [[33189319, 33190563], [33197295, 33197462], [33199150, 33199383], [33200375, 33200598], [33200813, 33201052], [33208812, 33209012], [33209172, 33209313], [33211184, 33211274], [33211567, 33211663], [33212512, 33212668], [33214798, 33215037], [33217021, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486], [33247072, 33247137]] [[33190497, 33190563], [33197295, 33197462], [33199150, 33199383], [33200375, 33200598], [33200813, 33201052], [33208812, 33209012], [33209172, 33209313], [33211184, 33211274], [33211567, 33211663], [33212512, 33212668], [33214798, 33215037], [33217021, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486]]
ENST00000374956 [[33189327, 33190563], [33195392, 33195508], [33197295, 33197462], [33199150, 33199383], [33200375, 33200598], [33200813, 33201052], [33208812, 33209012], [33209172, 33209313], [33211184, 33211274], [33211567, 33211663], [33212512, 33212668], [33214798, 33215037], [33217021, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486], [33247072, 33247147]] [[33190532, 33190563], [33195392, 33195508], [33197295, 33197462], [33199150, 33199383], [33200375, 33200598], [33200813, 33201052], [33208812, 33209012], [33209172, 33209313], [33211184, 33211274], [33211567, 33211663], [33212512, 33212668], [33214798, 33215037], [33217021, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486]]
ENST00000488427 [[33189919, 33190563], [33195990, 33196071], [33197295, 33197431]] [[33195996, 33196071], [33197295, 33197431]]
ENST00000494395 [[33190491, 33190563], [33197295, 33197462], [33200454, 33200598], [33200813, 33200992]] [[33197460, 33197462], [33200454, 33200598], [33200813, 33200992]]
ENST00000484088 [[33214888, 33215037], [33218768, 33218972], [33221442, 33221528], [33224419, 33224486], [33247072, 33247146]] None
ENST00000480226 [[33217077, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486], [33244497, 33244591]] [[33217077, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486]]
ENST00000474568 [[33217101, 33217192], [33218749, 33218972], [33221442, 33221528], [33222278, 33222511], [33224419, 33224486], [33247072, 33247160]] [[33217101, 33217192], [33218749, 33218954]]
ENST00000488494 [[33217120, 33217192], [33218749, 33218972], [33221433, 33221528], [33224419, 33224486], [33247072, 33247155]] [[33217120, 33217192], [33218749, 33218972], [33221433, 33221528], [33224419, 33224486]]
ENST00000534049 [[33217139, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486], [33281258, 33281391]] [[33217139, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486]]
ENST00000437302 [[33217159, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486], [33246686, 33246722]] [[33217159, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486]]
ENST00000528877 [[33218812, 33218972], [33221442, 33221528], [33224419, 33224486], [33249217, 33249294], [33250035, 33250088], [33252108, 33252211]] [[33218812, 33218972], [33221442, 33221528], [33224419, 33224486]]
ENST00000417122 [[33218856, 33218972], [33221442, 33221528], [33224419, 33224486], [33242520, 33242737], [33247072, 33247155]] [[33218856, 33218972], [33221442, 33221528], [33224419, 33224486]]
ENST00000464001 [[33218859, 33218972], [33221442, 33221645]] None
ENST00000493758 [[33218861, 33218972], [33221442, 33221528], [33222409, 33222511], [33224419, 33224486]] [[33218861, 33218954]]
ENST00000472147 [[33218912, 33218972], [33221442, 33221528], [33222278, 33222511], [33224419, 33224486], [33224822, 33225009], [33225144, 33225179]] [[33218912, 33218954]]
ENST00000414670 [[33221448, 33221528], [33224419, 33224486], [33240602, 33240686], [33242520, 33242737], [33247072, 33247124]] [[33221448, 33221528], [33224419, 33224486]]
ENST00000439974 [[33247413, 33247814], [33249252, 33249431]] None
NM_033668 [[33189245, 33190563], [33195990, 33196071], [33197295, 33197462], [33199150, 33199383], [33200375, 33200598], [33200813, 33201052], [33208812, 33209012], [33209172, 33209313], [33211184, 33211274], [33211567, 33211663], [33212512, 33212668], [33214798, 33215037], [33217021, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486]] [[33195996, 33196071], [33197295, 33197462], [33199150, 33199383], [33200375, 33200598], [33200813, 33201052], [33208812, 33209012], [33209172, 33209313], [33211184, 33211274], [33211567, 33211663], [33212512, 33212668], [33214798, 33215037], [33217021, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486]]
NM_133376 [[33189245, 33190563], [33197295, 33197462], [33199150, 33199383], [33200375, 33200598], [33200813, 33201052], [33208812, 33209012], [33209172, 33209313], [33211184, 33211274], [33211567, 33211663], [33212512, 33212668], [33214798, 33215037], [33217021, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486], [33246686, 33246822]] [[33190497, 33190563], [33197295, 33197462], [33199150, 33199383], [33200375, 33200598], [33200813, 33201052], [33208812, 33209012], [33209172, 33209313], [33211184, 33211274], [33211567, 33211663], [33212512, 33212668], [33214798, 33215037], [33217021, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486]]
NM_002211 [[33189245, 33190563], [33197295, 33197462], [33199150, 33199383], [33200375, 33200598], [33200813, 33201052], [33208812, 33209012], [33209172, 33209313], [33211184, 33211274], [33211567, 33211663], [33212512, 33212668], [33214798, 33215037], [33217021, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486], [33247072, 33247293]] [[33190497, 33190563], [33197295, 33197462], [33199150, 33199383], [33200375, 33200598], [33200813, 33201052], [33208812, 33209012], [33209172, 33209313], [33211184, 33211274], [33211567, 33211663], [33212512, 33212668], [33214798, 33215037], [33217021, 33217192], [33218749, 33218972], [33221442, 33221528], [33224419, 33224486]]
Promoter
Chrom Start End Description
chr10 33200984 33201060 CAGE_peak_5_at_ITGB1_5end
chr10 33212555 33212600 CAGE_peak_9_at_ITGB1_5end
chr10 33212601 33212662 CAGE_peak_6_at_ITGB1_5end
chr10 33221467 33221474 CAGE_peak_12_at_ITGB1_5end
chr10 33221480 33221527 CAGE_peak_7_at_ITGB1_5end
chr10 33246815 33246830 CAGE_peak_4_at_ITGB1_5end
chr10 33246846 33246855 CAGE_peak_11_at_ITGB1_5end
chr10 33246856 33246867 CAGE_peak_8_at_ITGB1_5end
chr10 33246874 33246907 CAGE_peak_2_at_ITGB1_5end
chr10 33247124 33247207 CAGE_peak_1_at_ITGB1_5end
chr10 33247223 33247234 CAGE_peak_3_at_ITGB1_5end
chr10 33281363 33281383 CAGE_peak_14_at_ITGB1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I033270 33270614 33275343 1.67 [{'connected_gene': 'NRP1', 'score': 13.83}, {'connected_gene': 'ITGB1', 'score': 1.44}, {'connected_gene': 'GC10M033237', 'score': 0.44}, {'connected_gene': 'RN7SL398P', 'score': 0.37}]
chr10 GH10I033213 33213716 33219238 1.15 [{'connected_gene': 'NRP1', 'score': 9.81}, {'connected_gene': 'ITGB1', 'score': 5.26}, {'connected_gene': 'ENSG00000238258', 'score': 0.44}, {'connected_gene': 'GC10M033237', 'score': 0.25}]
chr10 GH10I032978 32978994 32987004 2.16 [{'connected_gene': 'EPC1', 'score': 32.47}, {'connected_gene': 'AK3P5', 'score': 13.79}, {'connected_gene': 'ENSG00000226842', 'score': 12.38}, {'connected_gene': 'CCDC7', 'score': 10.22}, {'connected_gene': 'LOC105376486', 'score': 8.04}, {'connected_gene': 'ITGB1', 'score': 1.76}, {'connected_gene': 'ITGB1-DT', 'score': 0.34}]
chr10 GH10I033030 33030758 33031507 0.31 [{'connected_gene': 'ITGB1', 'score': 11.7}, {'connected_gene': 'NRP1', 'score': 9.14}, {'connected_gene': 'RN7SL847P', 'score': 0.77}, {'connected_gene': 'MTND4LP11', 'score': 0.44}, {'connected_gene': 'ITGB1-DT', 'score': 0.19}]
chr10 GH10I032976 32976448 32976629 0.42 [{'connected_gene': 'ITGB1', 'score': 12.03}, {'connected_gene': 'CCDC7', 'score': 8.71}, {'connected_gene': 'ITGB1-DT', 'score': 0.37}]
chr10 GH10I032795 32795713 32795862 0.63 [{'connected_gene': 'ITGB1', 'score': 12.2}, {'connected_gene': 'GC10M032819', 'score': 0.31}, {'connected_gene': 'PIR43634', 'score': 0.19}, {'connected_gene': 'CCDC7', 'score': 0.05}]
chr10 GH10I033031 33031905 33033851 0.8 [{'connected_gene': 'ITGB1', 'score': 11.7}, {'connected_gene': 'LOC105376486', 'score': 10.3}, {'connected_gene': 'NRP1', 'score': 9.14}, {'connected_gene': 'RN7SL847P', 'score': 0.77}, {'connected_gene': 'MTND4LP11', 'score': 0.44}, {'connected_gene': 'ITGB1-DT', 'score': 0.19}]
chr10 GH10I032947 32947005 32964108 2.78 [{'connected_gene': 'ITGB1', 'score': 562.12}, {'connected_gene': 'LOC105376486', 'score': 22.87}, {'connected_gene': 'EPC1', 'score': 18.09}, {'connected_gene': 'AK3P5', 'score': 12.9}, {'connected_gene': 'ENSG00000226842', 'score': 12.78}, {'connected_gene': 'CCDC7', 'score': 9.39}, {'connected_gene': 'ITGB1-DT', 'score': 0.77}]
chr10 GH10I032997 32997473 32999273 0.77 [{'connected_gene': 'ITGB1', 'score': 0.44}, {'connected_gene': 'ITGB1-DT', 'score': 0.28}]
chr10 GH10I033201 33201423 33203083 0.31 [{'connected_gene': 'ITGB1', 'score': 4.76}, {'connected_gene': 'ENSG00000238258', 'score': 0.44}, {'connected_gene': 'LOC101929447', 'score': 0.17}, {'connected_gene': 'NRP1', 'score': 0.12}]
chr10 GH10I033003 33003355 33007728 1.7 [{'connected_gene': 'ITGB1', 'score': 550.77}, {'connected_gene': 'AK3P5', 'score': 12.35}, {'connected_gene': 'ENSG00000226842', 'score': 11.76}, {'connected_gene': 'EPC1', 'score': 11.7}, {'connected_gene': 'LOC105376486', 'score': 6.13}, {'connected_gene': 'ITGB1-DT', 'score': 0.25}]
chr10 GH10I032935 32935548 32935607 0.81 [{'connected_gene': 'ITGB1', 'score': 550.19}, {'connected_gene': 'AK3P5', 'score': 0.44}, {'connected_gene': 'LOC105376486', 'score': 0.28}]
chr10 GH10I032929 32929733 32929882 0.63 [{'connected_gene': 'ITGB1', 'score': 11.38}, {'connected_gene': 'AK3P5', 'score': 0.39}, {'connected_gene': 'LOC105376486', 'score': 0.29}]
chr10 GH10I032977 32977953 32978102 0.84 [{'connected_gene': 'LOC105376486', 'score': 13.67}, {'connected_gene': 'EPC1', 'score': 11.68}, {'connected_gene': 'ITGB1-DT', 'score': 0.37}, {'connected_gene': 'ITGB1', 'score': 0.31}]
chr10 GH10I032970 32970720 32973289 1.31 [{'connected_gene': 'LOC105376486', 'score': 18.6}, {'connected_gene': 'CCDC7', 'score': 7.35}, {'connected_gene': 'RPS4XP11', 'score': 5.34}, {'connected_gene': 'ITGB1-DT', 'score': 0.39}, {'connected_gene': 'ITGB1', 'score': 0.29}]
chr10 GH10I032922 32922933 32924599 0.38 [{'connected_gene': 'LOC105376486', 'score': 18.77}, {'connected_gene': 'CCDC7', 'score': 7.4}, {'connected_gene': 'AK3P5', 'score': 0.34}, {'connected_gene': 'ITGB1', 'score': 0.18}]
chr10 GH10I032937 32937207 32942400 1.22 [{'connected_gene': 'LOC105376486', 'score': 25.95}, {'connected_gene': 'CCDC7', 'score': 14.92}, {'connected_gene': 'AK3P5', 'score': 0.77}, {'connected_gene': 'ITGB1', 'score': 0.2}]
chr10 GH10I032930 32930797 32932878 0.52 [{'connected_gene': 'LOC105376486', 'score': 18.41}, {'connected_gene': 'ITGB1', 'score': 11.39}, {'connected_gene': 'CCDC7', 'score': 9.09}, {'connected_gene': 'AK3P5', 'score': 0.39}]
chr10 GH10I033008 33008234 33011349 1.3 [{'connected_gene': 'LOC105376486', 'score': 5.95}, {'connected_gene': 'ITGB1', 'score': 0.77}, {'connected_gene': 'MTND4LP11', 'score': 0.39}, {'connected_gene': 'ITGB1-DT', 'score': 0.23}]
chr10 GH10I033001 33001733 33002744 1.18 [{'connected_gene': 'LOC105376486', 'score': 7.4}, {'connected_gene': 'ITGB1', 'score': 0.77}, {'connected_gene': 'ITGB1-DT', 'score': 0.26}]
chr10 GH10I032994 32994920 32996166 0.82 [{'connected_gene': 'LOC105376486', 'score': 6.81}, {'connected_gene': 'ITGB1', 'score': 0.39}, {'connected_gene': 'ITGB1-DT', 'score': 0.28}]
chr10 GH10I032992 32992279 32993444 0.82 [{'connected_gene': 'LOC105376486', 'score': 7.74}, {'connected_gene': 'ITGB1', 'score': 0.39}, {'connected_gene': 'ITGB1-DT', 'score': 0.29}]
chr10 GH10I033015 33015503 33016442 0.78 [{'connected_gene': 'LOC105376486', 'score': 4.66}, {'connected_gene': 'MTND4LP11', 'score': 0.44}, {'connected_gene': 'ITGB1', 'score': 0.39}, {'connected_gene': 'ITGB1-DT', 'score': 0.22}]
chr10 GH10I032965 32965050 32965965 0.2 [{'connected_gene': 'LOC105376486', 'score': 18.21}, {'connected_gene': 'ITGB1-DT', 'score': 0.44}, {'connected_gene': 'ITGB1', 'score': 0.26}]
chr10 GH10I032933 32933121 32934437 0.2 [{'connected_gene': 'LOC105376486', 'score': 29.81}, {'connected_gene': 'AK3P5', 'score': 0.39}, {'connected_gene': 'ITGB1', 'score': 0.19}]
chr10 GH10I032910 32910113 32910262 0.2 [{'connected_gene': 'LOC105376486', 'score': 0.39}, {'connected_gene': 'AK3P5', 'score': 0.29}, {'connected_gene': 'ITGB1', 'score': 0.15}]
chr10 GH10I032924 32924831 32926361 0.2 [{'connected_gene': 'LOC105376486', 'score': 18.77}, {'connected_gene': 'AK3P5', 'score': 0.37}, {'connected_gene': 'ITGB1', 'score': 0.18}]
chr10 GH10I032445 32445083 32448140 2.04 [{'connected_gene': 'LOC101929431', 'score': 550.77}, {'connected_gene': 'CCDC7', 'score': 550.77}, {'connected_gene': 'LOC105376486', 'score': 16.25}, {'connected_gene': 'EPC1', 'score': 11.87}, {'connected_gene': 'ITGB1', 'score': 7.34}, {'connected_gene': 'GC10M032511', 'score': 0.2}]
chr10 GH10I032943 32943256 32946695 1.3 [{'connected_gene': 'AK3P5', 'score': 561.7}, {'connected_gene': 'EPC1', 'score': 12.58}, {'connected_gene': 'LOC105376486', 'score': 12.08}, {'connected_gene': 'ENSG00000226842', 'score': 10.74}, {'connected_gene': 'CCDC7', 'score': 7.56}, {'connected_gene': 'ITGB1-DT', 'score': 0.39}, {'connected_gene': 'ITGB1', 'score': 0.21}]
chr10 GH10I032942 32942601 32943000 0.4 [{'connected_gene': 'AK3P5', 'score': 550.77}, {'connected_gene': 'LOC105376486', 'score': 5.56}, {'connected_gene': 'ITGB1', 'score': 0.21}]
chr10 GH10I032923 32922313 32922462 0.8 [{'connected_gene': 'AK3P5', 'score': 0.34}, {'connected_gene': 'LOC105376486', 'score': 0.31}, {'connected_gene': 'ITGB1', 'score': 0.18}]
chr10 GH10I033178 33178043 33180754 0.97 [{'connected_gene': 'ENSG00000238258', 'score': 11.29}, {'connected_gene': 'NRP1', 'score': 11.09}, {'connected_gene': 'ITGB1', 'score': 4.88}, {'connected_gene': 'LOC101929447', 'score': 0.21}]
chr10 GH10I033192 33192106 33197943 1.36 [{'connected_gene': 'ENSG00000238258', 'score': 5.75}, {'connected_gene': 'ITGB1', 'score': 4.86}, {'connected_gene': 'LOC101929447', 'score': 0.18}, {'connected_gene': 'NRP1', 'score': 0.11}]