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
ENST00000334567 [[171561138, 171561332], [171569771, 171569831], [171571316, 171571640], [171574452, 171574497], [171575850, 171577108]] [[171561173, 171561332], [171569771, 171569831], [171571316, 171571640], [171574452, 171574494]]
ENST00000420375 [[171561190, 171561332], [171569771, 171569831], [171571316, 171571640], [171574452, 171574497], [171633557, 171633687], [171655827, 171655919], [171656434, 171656505]] [[171561190, 171561332], [171569771, 171569831], [171571316, 171571640], [171574452, 171574494]]
ENST00000450693 [[171561305, 171561332], [171569771, 171569831], [171571316, 171571640], [171574452, 171574764]] [[171561305, 171561332], [171569771, 171569831], [171571316, 171571640], [171574452, 171574494]]
ENST00000469981 [[171618300, 171618537], [171633557, 171633687], [171644909, 171644950], [171655827, 171655852]] None
NM_001164436 [[171561138, 171561332], [171569771, 171569831], [171571316, 171571640], [171574452, 171574497], [171575850, 171577108]] [[171561173, 171561332], [171569771, 171569831], [171571316, 171571640], [171574452, 171574494]]
Promoter
Chrom Start End Description
chr3 171561127 171561173 CAGE_peak_1_at_TMEM212_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I171990 171990389 171990777 0.47 [{'connected_gene': 'FNDC3B', 'score': 24.52}, {'connected_gene': 'PLD1', 'score': 10.47}, {'connected_gene': 'TMEM212', 'score': 10.15}, {'connected_gene': 'GC03M171980', 'score': 0.37}, {'connected_gene': 'LOC105374217', 'score': 0.25}]
chr3 GH03I171829 171827337 171827687 0.2 [{'connected_gene': 'FNDC3B', 'score': 9.75}, {'connected_gene': 'PLD1', 'score': 8.76}, {'connected_gene': 'TMEM212', 'score': 0.37}]
chr3 GH03I171824 171824539 171826240 1.65 [{'connected_gene': 'FNDC3B', 'score': 22.34}, {'connected_gene': 'PLD1', 'score': 8.98}, {'connected_gene': 'TMEM212', 'score': 0.37}]
chr3 GH03I171828 171828201 171830834 1.6 [{'connected_gene': 'FNDC3B', 'score': 23.73}, {'connected_gene': 'PLD1', 'score': 14.52}, {'connected_gene': 'TMEM212', 'score': 0.39}]
chr3 GH03I171813 171813384 171814600 1.67 [{'connected_gene': 'FNDC3B', 'score': 10.41}, {'connected_gene': 'PLD1', 'score': 7.94}, {'connected_gene': 'TMEM212', 'score': 0.31}]
chr3 GH03I171827 171827786 171828087 0.31 [{'connected_gene': 'FNDC3B', 'score': 9.75}, {'connected_gene': 'PLD1', 'score': 6.27}, {'connected_gene': 'TMEM212', 'score': 0.37}]
chr3 GH03I171965 171965988 171968769 1.7 [{'connected_gene': 'FNDC3B', 'score': 18.84}, {'connected_gene': 'TMEM212', 'score': 10.17}, {'connected_gene': 'PLD1', 'score': 3.53}, {'connected_gene': 'LOC105374217', 'score': 0.34}, {'connected_gene': 'GC03M171980', 'score': 0.26}]
chr3 GH03I172230 172230619 172230923 0.23 [{'connected_gene': 'FNDC3B', 'score': 12.71}, {'connected_gene': 'TMEM212', 'score': 9.47}, {'connected_gene': 'PLD1', 'score': 1.42}, {'connected_gene': 'RPS27AP8', 'score': 0.77}, {'connected_gene': 'RN7SL141P', 'score': 0.44}]
chr3 GH03I172232 172232196 172234416 0.2 [{'connected_gene': 'FNDC3B', 'score': 10.26}, {'connected_gene': 'TMEM212', 'score': 9.47}, {'connected_gene': 'RN7SL141P', 'score': 0.77}, {'connected_gene': 'RPS27AP8', 'score': 0.44}]
chr3 GH03I172277 172277957 172281639 1.15 [{'connected_gene': 'FNDC3B', 'score': 10.31}, {'connected_gene': 'TMEM212', 'score': 9.1}, {'connected_gene': 'ENSG00000279862', 'score': 0.34}, {'connected_gene': 'RN7SL141P', 'score': 0.26}]
chr3 GH03I172246 172245331 172245521 0.31 [{'connected_gene': 'FNDC3B', 'score': 10.76}, {'connected_gene': 'TMEM212', 'score': 9.34}, {'connected_gene': 'RN7SL141P', 'score': 0.44}, {'connected_gene': 'ENSG00000279862', 'score': 0.22}]
chr3 GH03I172243 172243694 172244839 0.63 [{'connected_gene': 'FNDC3B', 'score': 10.77}, {'connected_gene': 'TMEM212', 'score': 9.34}, {'connected_gene': 'RN7SL141P', 'score': 0.44}, {'connected_gene': 'ENSG00000279862', 'score': 0.22}]
chr3 GH03I171938 171938421 171939421 0.31 [{'connected_gene': 'FNDC3B', 'score': 11.05}, {'connected_gene': 'TMEM212', 'score': 10.0}, {'connected_gene': 'LOC105374217', 'score': 0.77}, {'connected_gene': 'TMEM212-AS1', 'score': 0.28}, {'connected_gene': 'LOC105374218', 'score': 0.28}]
chr3 GH03I171971 171971499 171973914 1.09 [{'connected_gene': 'FNDC3B', 'score': 11.17}, {'connected_gene': 'TMEM212', 'score': 10.12}, {'connected_gene': 'LOC105374217', 'score': 0.29}, {'connected_gene': 'GC03M171980', 'score': 0.28}]
chr3 GH03I171987 171986331 171986480 0.69 [{'connected_gene': 'FNDC3B', 'score': 11.57}, {'connected_gene': 'TMEM212', 'score': 10.15}, {'connected_gene': 'GC03M171980', 'score': 0.34}, {'connected_gene': 'LOC105374217', 'score': 0.26}]
chr3 GH03I171984 171984601 171985600 0.61 [{'connected_gene': 'FNDC3B', 'score': 11.57}, {'connected_gene': 'TMEM212', 'score': 10.15}, {'connected_gene': 'GC03M171980', 'score': 0.34}, {'connected_gene': 'LOC105374217', 'score': 0.26}]
chr3 GH03I171986 171986800 171987001 0.69 [{'connected_gene': 'FNDC3B', 'score': 11.57}, {'connected_gene': 'TMEM212', 'score': 10.15}, {'connected_gene': 'GC03M171980', 'score': 0.34}, {'connected_gene': 'LOC105374217', 'score': 0.26}]
chr3 GH03I171950 171950051 171950867 1 [{'connected_gene': 'FNDC3B', 'score': 10.87}, {'connected_gene': 'TMEM212', 'score': 10.71}, {'connected_gene': 'LOC105374217', 'score': 0.44}, {'connected_gene': 'GC03M171980', 'score': 0.22}]
chr3 GH03I171960 171960293 171961932 1.58 [{'connected_gene': 'FNDC3B', 'score': 11.06}, {'connected_gene': 'TMEM212', 'score': 10.17}, {'connected_gene': 'LOC105374217', 'score': 0.37}, {'connected_gene': 'GC03M171980', 'score': 0.25}]
chr3 GH03I171959 171959411 171960187 0.89 [{'connected_gene': 'FNDC3B', 'score': 11.06}, {'connected_gene': 'TMEM212', 'score': 10.17}, {'connected_gene': 'LOC105374217', 'score': 0.37}, {'connected_gene': 'GC03M171980', 'score': 0.25}]
chr3 GH03I171985 171985870 171985952 0.4 [{'connected_gene': 'FNDC3B', 'score': 11.57}, {'connected_gene': 'TMEM212', 'score': 10.15}, {'connected_gene': 'GC03M171980', 'score': 0.34}, {'connected_gene': 'LOC105374217', 'score': 0.26}]
chr3 GH03I171970 171970002 171971199 1.18 [{'connected_gene': 'FNDC3B', 'score': 11.17}, {'connected_gene': 'TMEM212', 'score': 10.12}, {'connected_gene': 'LOC105374217', 'score': 0.31}, {'connected_gene': 'GC03M171980', 'score': 0.28}]
chr3 GH03I171953 171953132 171957335 1.32 [{'connected_gene': 'FNDC3B', 'score': 11.05}, {'connected_gene': 'TMEM212', 'score': 10.7}, {'connected_gene': 'LOC105374217', 'score': 0.39}, {'connected_gene': 'GC03M171980', 'score': 0.23}]
chr3 GH03I171850 171850455 171853137 1.2 [{'connected_gene': 'FNDC3B', 'score': 10.14}, {'connected_gene': 'TMEM212', 'score': 0.44}, {'connected_gene': 'TMEM212-IT1', 'score': 0.26}]
chr3 GH03I171844 171844820 171847420 1.09 [{'connected_gene': 'FNDC3B', 'score': 10.14}, {'connected_gene': 'TMEM212', 'score': 0.77}, {'connected_gene': 'TMEM212-IT1', 'score': 0.25}]
chr3 GH03I171860 171860731 171862265 0.78 [{'connected_gene': 'FNDC3B', 'score': 10.53}, {'connected_gene': 'TMEM212', 'score': 0.37}, {'connected_gene': 'TMEM212-IT1', 'score': 0.29}]
chr3 GH03I172064 172064571 172068293 1.35 [{'connected_gene': 'FNDC3B', 'score': 12.03}, {'connected_gene': 'TMEM212', 'score': 10.08}, {'connected_gene': 'RPS27AP8', 'score': 0.1}]
chr3 GH03I172635 172635040 172638700 0.96 [{'connected_gene': 'NCEH1', 'score': 16.58}, {'connected_gene': 'TMEM212', 'score': 9.01}, {'connected_gene': 'SLC31A1P1', 'score': 0.29}, {'connected_gene': 'PIR41392', 'score': 0.29}]
chr3 GH03I171804 171804047 171813327 2.79 [{'connected_gene': 'PLD1', 'score': 569.14}, {'connected_gene': 'FNDC3B', 'score': 14.25}, {'connected_gene': 'TMEM212', 'score': 11.06}, {'connected_gene': 'RPL22L1', 'score': 9.95}, {'connected_gene': 'ECT2', 'score': 4.9}, {'connected_gene': 'TNIK', 'score': 4.36}, {'connected_gene': 'ENSG00000234594', 'score': 0.06}]
chr3 GH03I171832 171832258 171836165 1.49 [{'connected_gene': 'PLD1', 'score': 13.39}, {'connected_gene': 'FNDC3B', 'score': 10.01}, {'connected_gene': 'TMEM212', 'score': 0.44}]
chr3 GH03I171776 171776202 171778399 1.14 [{'connected_gene': 'PLD1', 'score': 18.28}, {'connected_gene': 'FNDC3B', 'score': 10.7}, {'connected_gene': 'TMEM212', 'score': 9.54}, {'connected_gene': 'ENSG00000234594', 'score': 0.07}]
chr3 GH03I171787 171787476 171793361 1.35 [{'connected_gene': 'PLD1', 'score': 28.48}, {'connected_gene': 'TMEM212', 'score': 10.95}, {'connected_gene': 'FNDC3B', 'score': 9.92}, {'connected_gene': 'ECT2', 'score': 4.53}, {'connected_gene': 'ENSG00000234594', 'score': 0.07}]
chr3 GH03I171800 171800460 171803463 1.55 [{'connected_gene': 'PLD1', 'score': 16.4}, {'connected_gene': 'TMEM212', 'score': 11.03}, {'connected_gene': 'FNDC3B', 'score': 9.65}, {'connected_gene': 'ENSG00000234594', 'score': 0.06}]
chr3 GH03I171767 171767831 171772801 2.23 [{'connected_gene': 'PLD1', 'score': 554.9}, {'connected_gene': 'TMEM212', 'score': 10.63}, {'connected_gene': 'FNDC3B', 'score': 9.36}, {'connected_gene': 'ENSG00000234594', 'score': 0.07}]
chr3 GH03I171773 171773648 171775868 0.31 [{'connected_gene': 'PLD1', 'score': 16.82}, {'connected_gene': 'TMEM212', 'score': 10.64}, {'connected_gene': 'FNDC3B', 'score': 9.36}, {'connected_gene': 'ENSG00000234594', 'score': 0.07}]
chr3 GH03I171646 171646400 171647200 0.83 [{'connected_gene': 'PLD1', 'score': 13.78}, {'connected_gene': 'TMEM212', 'score': 10.37}, {'connected_gene': 'FNDC3B', 'score': 9.33}, {'connected_gene': 'ENSG00000234594', 'score': 0.14}]
chr3 GH03I171675 171675670 171686023 1.07 [{'connected_gene': 'PLD1', 'score': 14.64}, {'connected_gene': 'TMEM212', 'score': 10.21}, {'connected_gene': 'TNIK', 'score': 5.47}, {'connected_gene': 'ENSG00000234594', 'score': 0.11}]
chr3 GH03I171780 171780487 171780903 0.2 [{'connected_gene': 'PLD1', 'score': 11.21}, {'connected_gene': 'TMEM212', 'score': 9.3}, {'connected_gene': 'ECT2', 'score': 4.17}, {'connected_gene': 'ENSG00000234594', 'score': 0.07}]
chr3 GH03I171781 171781231 171783521 0.97 [{'connected_gene': 'PLD1', 'score': 26.11}, {'connected_gene': 'TMEM212', 'score': 10.74}, {'connected_gene': 'ECT2', 'score': 4.18}, {'connected_gene': 'ENSG00000234594', 'score': 0.07}]
chr3 GH03I171778 171778611 171778760 0.72 [{'connected_gene': 'PLD1', 'score': 11.21}, {'connected_gene': 'TMEM212', 'score': 9.3}, {'connected_gene': 'ENSG00000234594', 'score': 0.07}]
chr3 GH03I171784 171784471 171784620 0.51 [{'connected_gene': 'PLD1', 'score': 11.24}, {'connected_gene': 'TMEM212', 'score': 10.75}, {'connected_gene': 'ENSG00000234594', 'score': 0.07}]
chr3 GH03I171694 171694429 171697446 0.54 [{'connected_gene': 'PLD1', 'score': 15.03}, {'connected_gene': 'TMEM212', 'score': 9.72}, {'connected_gene': 'ENSG00000234594', 'score': 0.1}]
chr3 GH03I171613 171613748 171615142 0.65 [{'connected_gene': 'PLD1', 'score': 13.52}, {'connected_gene': 'TMEM212', 'score': 9.87}, {'connected_gene': 'ENSG00000234594', 'score': 0.18}]
chr3 GH03I171837 171837731 171839612 1.32 [{'connected_gene': 'PLD1', 'score': 8.35}, {'connected_gene': 'TMEM212', 'score': 0.77}]
chr3 GH03I171686 171686930 171688880 0.43 [{'connected_gene': 'PLD1', 'score': 12.8}, {'connected_gene': 'TMEM212', 'score': 9.44}, {'connected_gene': 'ENSG00000234594', 'score': 0.1}]
chr3 GH03I171748 171748201 171748800 0.83 [{'connected_gene': 'PLD1', 'score': 14.55}, {'connected_gene': 'TMEM212', 'score': 10.15}, {'connected_gene': 'ENSG00000234594', 'score': 0.08}]
chr3 GH03I171815 171815939 171816501 0.92 [{'connected_gene': 'PLD1', 'score': 10.91}, {'connected_gene': 'TMEM212', 'score': 0.31}]
chr3 GH03I171904 171904594 171905542 0.69 [{'connected_gene': 'PLD1', 'score': 4.81}, {'connected_gene': 'TMEM212-AS1', 'score': 0.77}, {'connected_gene': 'LOC105374218', 'score': 0.77}, {'connected_gene': 'LOC105374217', 'score': 0.28}, {'connected_gene': 'TMEM212', 'score': 0.21}]
chr3 GH03I171794 171794563 171796215 0.31 [{'connected_gene': 'TMEM212', 'score': 10.54}, {'connected_gene': 'FNDC3B', 'score': 9.92}, {'connected_gene': 'PLD1', 'score': 0.37}, {'connected_gene': 'ENSG00000234594', 'score': 0.07}]
chr3 GH03I171934 171934934 171938258 1.17 [{'connected_gene': 'TMEM212', 'score': 11.05}, {'connected_gene': 'FNDC3B', 'score': 11.03}, {'connected_gene': 'LOC105374217', 'score': 0.44}, {'connected_gene': 'TMEM212-AS1', 'score': 0.28}, {'connected_gene': 'LOC105374218', 'score': 0.28}]
chr3 GH03I171872 171872601 171877679 1.61 [{'connected_gene': 'TMEM212', 'score': 16.04}, {'connected_gene': 'FNDC3B', 'score': 12.33}, {'connected_gene': 'TMEM212-IT1', 'score': 0.37}, {'connected_gene': 'TMEM212-AS1', 'score': 0.31}]
chr3 GH03I171878 171878357 171879787 1.36 [{'connected_gene': 'TMEM212', 'score': 15.42}, {'connected_gene': 'FNDC3B', 'score': 10.53}, {'connected_gene': 'TMEM212-IT1', 'score': 0.37}, {'connected_gene': 'TMEM212-AS1', 'score': 0.34}]
chr3 GH03I171862 171862592 171864304 1.14 [{'connected_gene': 'TMEM212', 'score': 17.32}, {'connected_gene': 'FNDC3B', 'score': 10.53}, {'connected_gene': 'TMEM212-IT1', 'score': 0.29}]
chr3 GH03I172054 172054401 172054800 0.58 [{'connected_gene': 'TMEM212', 'score': 9.16}, {'connected_gene': 'FNDC3B', 'score': 0.39}, {'connected_gene': 'RPS27AP8', 'score': 0.09}]
chr3 GH03I172055 172055202 172056840 1 [{'connected_gene': 'TMEM212', 'score': 9.16}, {'connected_gene': 'FNDC3B', 'score': 0.37}, {'connected_gene': 'RPS27AP8', 'score': 0.1}]
chr3 GH03I172057 172057024 172057530 0.2 [{'connected_gene': 'TMEM212', 'score': 9.16}, {'connected_gene': 'FNDC3B', 'score': 0.37}, {'connected_gene': 'RPS27AP8', 'score': 0.1}]
chr3 GH03I172348 172348411 172348560 0.38 [{'connected_gene': 'TMEM212', 'score': 9.62}, {'connected_gene': 'ENSG00000279862', 'score': 0.25}, {'connected_gene': 'GC03M172364', 'score': 0.23}, {'connected_gene': 'FNDC3B', 'score': 0.06}]
chr3 GH03I172036 172036135 172036850 0.8 [{'connected_gene': 'TMEM212', 'score': 10.19}, {'connected_gene': 'FNDC3B', 'score': 0.77}, {'connected_gene': 'GC03M171980', 'score': 0.31}]
chr3 GH03I172034 172034891 172035020 0.56 [{'connected_gene': 'TMEM212', 'score': 10.19}, {'connected_gene': 'FNDC3B', 'score': 0.77}, {'connected_gene': 'GC03M171980', 'score': 0.31}]
chr3 GH03I172035 172035135 172035600 0.9 [{'connected_gene': 'TMEM212', 'score': 10.19}, {'connected_gene': 'FNDC3B', 'score': 0.77}, {'connected_gene': 'GC03M171980', 'score': 0.31}]
chr3 GH03I171840 171840555 171843675 1.85 [{'connected_gene': 'TMEM212', 'score': 550.77}, {'connected_gene': 'PLD1', 'score': 7.29}]
chr3 GH03I171838 171837191 171837495 0.31 [{'connected_gene': 'TMEM212', 'score': 0.44}, {'connected_gene': 'PLD1', 'score': 0.31}]
chr3 GH03I171649 171649254 171649717 0.31 [{'connected_gene': 'TMEM212', 'score': 10.38}, {'connected_gene': 'ENSG00000234594', 'score': 0.13}, {'connected_gene': 'PLD1', 'score': 0.1}]
chr3 GH03I171798 171798623 171799154 0.2 [{'connected_gene': 'TMEM212', 'score': 10.55}, {'connected_gene': 'PLD1', 'score': 0.39}, {'connected_gene': 'ENSG00000234594', 'score': 0.07}]
chr3 GH03I171797 171797201 171797600 0.94 [{'connected_gene': 'TMEM212', 'score': 10.54}, {'connected_gene': 'PLD1', 'score': 0.39}, {'connected_gene': 'ENSG00000234594', 'score': 0.07}]
chr3 GH03I171799 171797924 171798493 0.95 [{'connected_gene': 'TMEM212', 'score': 10.54}, {'connected_gene': 'PLD1', 'score': 0.39}, {'connected_gene': 'ENSG00000234594', 'score': 0.07}]
chr3 GH03I171616 171616327 171616598 0.2 [{'connected_gene': 'TMEM212', 'score': 9.87}, {'connected_gene': 'PLD1', 'score': 5.01}, {'connected_gene': 'ENSG00000234594', 'score': 0.18}]
chr3 GH03I171942 171942972 171945698 1.18 [{'connected_gene': 'LOC105374217', 'score': 550.77}, {'connected_gene': 'FNDC3B', 'score': 11.52}, {'connected_gene': 'TMEM212', 'score': 9.88}, {'connected_gene': 'GC03M171980', 'score': 0.21}]
chr3 GH03I171931 171931801 171932400 0.64 [{'connected_gene': 'LOC105374217', 'score': 0.39}, {'connected_gene': 'TMEM212-AS1', 'score': 0.29}, {'connected_gene': 'LOC105374218', 'score': 0.29}, {'connected_gene': 'TMEM212', 'score': 0.17}]
chr3 GH03I171893 171893555 171893829 0.35 [{'connected_gene': 'TMEM212-IT1', 'score': 550.77}, {'connected_gene': 'TMEM212', 'score': 11.0}, {'connected_gene': 'FNDC3B', 'score': 10.79}, {'connected_gene': 'TMEM212-AS1', 'score': 0.44}]
chr3 GH03I171901 171901794 171902398 0.71 [{'connected_gene': 'TMEM212-AS1', 'score': 550.77}, {'connected_gene': 'LOC105374218', 'score': 550.77}, {'connected_gene': 'FNDC3B', 'score': 10.35}, {'connected_gene': 'LOC105374217', 'score': 0.26}, {'connected_gene': 'TMEM212', 'score': 0.22}]

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