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
ENST00000341845 [[72251807, 72251956], [72264324, 72264416], [72285253, 72285328], [72286304, 72286446], [72286538, 72286691], [72302271, 72302376], [72311452, 72311551], [72313038, 72313135], [72330483, 72330528], [72332969, 72333042], [72337117, 72337142], [72347175, 72347235], [72348160, 72348348], [72350895, 72350917], [72351890, 72351934], [72354259, 72354351], [72359667, 72359771], [72364476, 72364606], [72370568, 72370680], [72373164, 72373320], [72374006, 72374139], [72377609, 72377809], [72378587, 72378652], [72383415, 72383580], [72383894, 72386348]] [[72251923, 72251956], [72264324, 72264416], [72285253, 72285328], [72286304, 72286446], [72286538, 72286691], [72302271, 72302376], [72311452, 72311551], [72313038, 72313135], [72330483, 72330528], [72332969, 72333042], [72337117, 72337142], [72347175, 72347235], [72348160, 72348348], [72350895, 72350917], [72351890, 72351934], [72354259, 72354351], [72359667, 72359771], [72364476, 72364606], [72370568, 72370680], [72373164, 72373320], [72374006, 72374139], [72377609, 72377809], [72378587, 72378652], [72383415, 72383580], [72383894, 72383917]]
ENST00000430046 [[72251807, 72251956], [72264324, 72264416], [72285253, 72285328], [72286304, 72286446], [72286538, 72286691], [72302271, 72302376], [72311452, 72311551], [72313038, 72313135], [72330483, 72330528], [72332969, 72333042], [72337117, 72337142], [72347175, 72347233], [72348158, 72348334], [72349986, 72349998], [72350351, 72350376], [72351891, 72351934], [72354259, 72354351], [72359667, 72359771], [72364476, 72364606], [72370568, 72370680], [72373164, 72373320], [72374006, 72374139], [72377609, 72377809], [72378587, 72378652], [72383415, 72383580], [72383894, 72386349]] [[72251923, 72251956], [72264324, 72264416], [72285253, 72285328], [72286304, 72286446], [72286538, 72286691], [72302271, 72302376], [72311452, 72311551], [72313038, 72313135], [72330483, 72330528], [72332969, 72333042], [72337117, 72337142], [72347175, 72347233], [72348158, 72348334], [72349986, 72349998], [72350351, 72350376], [72351891, 72351934], [72354259, 72354351], [72359667, 72359771], [72364476, 72364606], [72370568, 72370680], [72373164, 72373320], [72374006, 72374139], [72377609, 72377809], [72378587, 72378652], [72383415, 72383580], [72383894, 72383917]]
ENST00000512348 [[72251895, 72251956], [72264324, 72264416], [72285253, 72285328], [72286304, 72286446], [72286538, 72286691], [72302271, 72302376], [72313038, 72313135], [72330483, 72330528], [72332969, 72333042], [72337117, 72337142], [72347175, 72347233], [72348158, 72348334], [72349986, 72349998], [72350351, 72350376], [72351891, 72351934], [72354259, 72354351], [72359667, 72359771], [72364476, 72364606], [72370568, 72370680], [72373164, 72373320], [72374006, 72374139], [72377609, 72377809], [72378587, 72378652], [72383415, 72383580], [72383894, 72384255]] [[72251923, 72251956], [72264324, 72264416], [72285253, 72285328], [72286304, 72286446], [72286538, 72286691], [72302271, 72302376], [72313038, 72313135], [72330483, 72330528], [72332969, 72333042], [72337117, 72337142], [72347175, 72347233], [72348158, 72348334], [72349986, 72349998], [72350351, 72350376], [72351891, 72351934], [72354259, 72354351], [72359667, 72359771], [72364476, 72364606], [72370568, 72370680], [72373164, 72373320], [72374006, 72374139], [72377609, 72377809], [72378587, 72378652], [72383415, 72383580], [72383894, 72383917]]
ENST00000507345 [[72251892, 72251956], [72264324, 72264416], [72286304, 72286446], [72286538, 72286691], [72302271, 72302376], [72311452, 72311551], [72313038, 72313109]] [[72251923, 72251956], [72264324, 72264416], [72286304, 72286446], [72286538, 72286691], [72302271, 72302376], [72311452, 72311551], [72313038, 72313109]]
ENST00000287761 [[72251897, 72251956], [72264324, 72264416], [72285253, 72285328], [72286304, 72286446], [72286538, 72286691], [72302271, 72302376], [72311452, 72311551], [72313038, 72313135], [72330483, 72330528], [72332969, 72333042], [72333603, 72333941]] [[72251923, 72251956], [72264324, 72264416], [72285253, 72285328], [72286304, 72286446], [72286538, 72286691], [72302271, 72302376], [72311452, 72311551], [72313038, 72313135], [72330483, 72330528], [72332969, 72333042], [72333603, 72333826]]
ENST00000511264 [[72330294, 72330528], [72332969, 72333019]] None
ENST00000503302 [[72346926, 72347233], [72348158, 72348683]] None
ENST00000508431 [[72354247, 72354351], [72359667, 72359771], [72364476, 72364606], [72370568, 72370680], [72373164, 72373267]] None
NM_001146032 [[72251807, 72251956], [72264324, 72264416], [72285253, 72285328], [72286304, 72286446], [72286538, 72286691], [72302271, 72302376], [72313038, 72313135], [72330483, 72330528], [72332969, 72333042], [72337117, 72337142], [72347175, 72347233], [72348158, 72348334], [72349986, 72349998], [72350351, 72350376], [72351891, 72351934], [72354259, 72354351], [72359667, 72359771], [72364476, 72364606], [72370568, 72370680], [72373164, 72373320], [72374006, 72374139], [72377609, 72377809], [72378587, 72378652], [72383415, 72383580], [72383894, 72386349]] [[72251923, 72251956], [72264324, 72264416], [72285253, 72285328], [72286304, 72286446], [72286538, 72286691], [72302271, 72302376], [72313038, 72313135], [72330483, 72330528], [72332969, 72333042], [72337117, 72337142], [72347175, 72347233], [72348158, 72348334], [72349986, 72349998], [72350351, 72350376], [72351891, 72351934], [72354259, 72354351], [72359667, 72359771], [72364476, 72364606], [72370568, 72370680], [72373164, 72373320], [72374006, 72374139], [72377609, 72377809], [72378587, 72378652], [72383415, 72383580], [72383894, 72383917]]
NM_138782 [[72251807, 72251956], [72264324, 72264416], [72285253, 72285328], [72286304, 72286446], [72286538, 72286691], [72302271, 72302376], [72311452, 72311551], [72313038, 72313135], [72330483, 72330528], [72332969, 72333042], [72337117, 72337142], [72347175, 72347233], [72348158, 72348334], [72349986, 72349998], [72350351, 72350376], [72351891, 72351934], [72354259, 72354351], [72359667, 72359771], [72364476, 72364606], [72370568, 72370680], [72373164, 72373320], [72374006, 72374139], [72377609, 72377809], [72378587, 72378652], [72383415, 72383580], [72383894, 72386349]] [[72251923, 72251956], [72264324, 72264416], [72285253, 72285328], [72286304, 72286446], [72286538, 72286691], [72302271, 72302376], [72311452, 72311551], [72313038, 72313135], [72330483, 72330528], [72332969, 72333042], [72337117, 72337142], [72347175, 72347233], [72348158, 72348334], [72349986, 72349998], [72350351, 72350376], [72351891, 72351934], [72354259, 72354351], [72359667, 72359771], [72364476, 72364606], [72370568, 72370680], [72373164, 72373320], [72374006, 72374139], [72377609, 72377809], [72378587, 72378652], [72383415, 72383580], [72383894, 72383917]]
Promoter
Chrom Start End Description
chr5 72251353 72251398 CAGE_peak_6_at_FCHO2_5end
chr5 72251773 72251785 CAGE_peak_4_at_FCHO2_5end
chr5 72251793 72251825 CAGE_peak_2_at_FCHO2_5end
chr5 72251845 72251856 CAGE_peak_3_at_FCHO2_5end
chr5 72251857 72251908 CAGE_peak_1_at_FCHO2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I073795 73795478 73798146 1.31 [{'connected_gene': 'UTP15', 'score': 14.56}, {'connected_gene': 'FCHO2', 'score': 14.06}, {'connected_gene': 'ANKRA2', 'score': 13.9}, {'connected_gene': 'RNU7-196P', 'score': 12.0}, {'connected_gene': 'TNPO1', 'score': 11.9}, {'connected_gene': 'ARHGEF28', 'score': 4.22}, {'connected_gene': 'ENSG00000184084', 'score': 0.44}, {'connected_gene': 'LOC102725145', 'score': 0.44}]
chr5 GH05I073029 73029624 73032773 1.13 [{'connected_gene': 'ANKRA2', 'score': 62.96}, {'connected_gene': 'ENSG00000271926', 'score': 12.06}, {'connected_gene': 'ENSG00000272525', 'score': 11.33}, {'connected_gene': 'UTP15', 'score': 11.32}, {'connected_gene': 'TMEM171', 'score': 10.86}, {'connected_gene': 'ENSG00000272081', 'score': 8.04}, {'connected_gene': 'FCHO2', 'score': 7.06}, {'connected_gene': 'LOC728549', 'score': 0.44}, {'connected_gene': 'GC05P073101', 'score': 0.2}]
chr5 GH05I072586 72586727 72588620 1.19 [{'connected_gene': 'ANKRA2', 'score': 21.63}, {'connected_gene': 'TNPO1', 'score': 14.46}, {'connected_gene': 'UTP15', 'score': 13.18}, {'connected_gene': 'FCHO2', 'score': 12.55}, {'connected_gene': 'MAP1B', 'score': 4.81}, {'connected_gene': 'GC05M072590', 'score': 0.77}, {'connected_gene': 'GC05P072582', 'score': 0.44}, {'connected_gene': 'LINC02056', 'score': 0.19}]
chr5 GH05I073747 73747504 73750544 0.92 [{'connected_gene': 'ANKRA2', 'score': 16.75}, {'connected_gene': 'FCHO2', 'score': 13.26}, {'connected_gene': 'UTP15', 'score': 12.62}, {'connected_gene': 'TNPO1', 'score': 11.51}, {'connected_gene': 'BTF3', 'score': 9.77}, {'connected_gene': 'ARHGEF28', 'score': 7.52}, {'connected_gene': 'LOC102725145', 'score': 0.28}]
chr5 GH05I072524 72524836 72526883 0.69 [{'connected_gene': 'MAP1B', 'score': 4.94}, {'connected_gene': 'FCHO2', 'score': 4.66}, {'connected_gene': 'ZNF366', 'score': 0.37}, {'connected_gene': 'LOC102503427', 'score': 0.29}]
chr5 GH05I072517 72517594 72519200 1.22 [{'connected_gene': 'MAP1B', 'score': 5.18}, {'connected_gene': 'FCHO2', 'score': 4.24}, {'connected_gene': 'ZNF366', 'score': 0.39}, {'connected_gene': 'LOC102503427', 'score': 0.28}]
chr5 GH05I072106 72106519 72111578 2.49 [{'connected_gene': 'MAP1B', 'score': 553.37}, {'connected_gene': 'LOC105379028', 'score': 550.77}, {'connected_gene': 'BDP1', 'score': 34.11}, {'connected_gene': 'TNPO1', 'score': 21.38}, {'connected_gene': 'FCHO2', 'score': 16.77}, {'connected_gene': 'LOC653406', 'score': 11.83}, {'connected_gene': 'GUSBP9', 'score': 11.71}, {'connected_gene': 'RPL7P22', 'score': 10.25}, {'connected_gene': 'PTCD2', 'score': 5.67}, {'connected_gene': 'GC05P072152', 'score': 0.26}, {'connected_gene': 'GC05M072061', 'score': 0.15}]
chr5 GH05I072846 72846630 72850697 2.29 [{'connected_gene': 'TNPO1', 'score': 572.46}, {'connected_gene': 'ENSG00000249085', 'score': 22.52}, {'connected_gene': 'FCHO2', 'score': 15.42}, {'connected_gene': 'UTP15', 'score': 14.07}, {'connected_gene': 'ANKRA2', 'score': 11.75}, {'connected_gene': 'RPL7P22', 'score': 10.74}, {'connected_gene': 'MRPS27', 'score': 10.19}, {'connected_gene': 'GC05P072869', 'score': 0.34}]
chr5 GH05I072319 72319008 72321729 2.06 [{'connected_gene': 'MRPS27', 'score': 558.87}, {'connected_gene': 'PTCD2', 'score': 550.77}, {'connected_gene': 'FCHO2', 'score': 41.54}, {'connected_gene': 'TNPO1', 'score': 30.46}, {'connected_gene': 'BDP1', 'score': 27.53}, {'connected_gene': 'RPL7P22', 'score': 12.5}]
chr5 GH05I072508 72508830 72514257 1.04 [{'connected_gene': 'MRPS27', 'score': 9.62}, {'connected_gene': 'PTCD2', 'score': 9.62}, {'connected_gene': 'RN7SL153P', 'score': 9.61}, {'connected_gene': 'FCHO2', 'score': 4.44}, {'connected_gene': 'ZNF366', 'score': 2.08}, {'connected_gene': 'LOC102503427', 'score': 0.25}]
chr5 GH05I072463 72463001 72473155 1.61 [{'connected_gene': 'ZNF366', 'score': 14.08}, {'connected_gene': 'ENSG00000272081', 'score': 4.95}, {'connected_gene': 'MAP1B', 'score': 4.18}, {'connected_gene': 'FCHO2', 'score': 1.23}, {'connected_gene': 'GC05P072450', 'score': 0.37}]
chr5 GH05I072507 72507666 72508543 1.7 [{'connected_gene': 'ZNF366', 'score': 553.9}, {'connected_gene': 'MRPS27', 'score': 9.62}, {'connected_gene': 'PTCD2', 'score': 9.62}, {'connected_gene': 'RN7SL153P', 'score': 9.62}, {'connected_gene': 'FCHO2', 'score': 4.45}, {'connected_gene': 'LOC102503427', 'score': 0.25}]
chr5 GH05I072485 72485084 72486801 0.86 [{'connected_gene': 'ZNF366', 'score': 12.45}, {'connected_gene': 'MRPS27', 'score': 10.11}, {'connected_gene': 'PTCD2', 'score': 10.11}, {'connected_gene': 'RN7SL153P', 'score': 10.11}, {'connected_gene': 'FCHO2', 'score': 4.4}, {'connected_gene': 'GC05P072450', 'score': 0.28}]
chr5 GH05I072621 72621462 72623819 0.2 [{'connected_gene': 'ZNF366', 'score': 10.5}, {'connected_gene': 'FCHO2', 'score': 5.0}, {'connected_gene': 'MAP1B', 'score': 4.38}, {'connected_gene': 'GC05M072615', 'score': 0.31}, {'connected_gene': 'GC05M072590', 'score': 0.29}, {'connected_gene': 'LINC02056', 'score': 0.28}]
chr5 GH05I072551 72551860 72552997 0.94 [{'connected_gene': 'ZNF366', 'score': 10.25}, {'connected_gene': 'FCHO2', 'score': 4.38}, {'connected_gene': 'LOC102503427', 'score': 0.77}]
chr5 GH05I072503 72503911 72504863 1.37 [{'connected_gene': 'ZNF366', 'score': 5.67}, {'connected_gene': 'FCHO2', 'score': 4.45}, {'connected_gene': 'GC05P072450', 'score': 0.23}]
chr5 GH05I073039 73039174 73039363 0.49 [{'connected_gene': 'TMEM171', 'score': 10.33}, {'connected_gene': 'LOC728549', 'score': 0.37}, {'connected_gene': 'GC05P073101', 'score': 0.21}, {'connected_gene': 'FCHO2', 'score': 0.18}]
chr5 GH05I073083 73083194 73083343 0.64 [{'connected_gene': 'TMEM171', 'score': 11.57}, {'connected_gene': 'TMEM174', 'score': 10.86}, {'connected_gene': 'GC05P073101', 'score': 0.37}, {'connected_gene': 'LOC728549', 'score': 0.21}, {'connected_gene': 'FCHO2', 'score': 0.13}]
chr5 GH05I073122 73122149 73123690 0.86 [{'connected_gene': 'TMEM171', 'score': 11.22}, {'connected_gene': 'TMEM174', 'score': 10.89}, {'connected_gene': 'FCHO2', 'score': 5.86}, {'connected_gene': 'GC05P073146', 'score': 0.34}]
chr5 GH05I072411 72411139 72413861 0.74 [{'connected_gene': 'FCHO2', 'score': 11.5}, {'connected_gene': 'ZNF366', 'score': 10.6}, {'connected_gene': 'YBX1P5', 'score': 5.16}, {'connected_gene': 'MAP1B', 'score': 4.46}, {'connected_gene': 'GC05P072381', 'score': 0.29}]
chr5 GH05I072506 72505052 72505442 0.79 [{'connected_gene': 'FCHO2', 'score': 4.04}, {'connected_gene': 'ZNF366', 'score': 0.77}, {'connected_gene': 'GC05P072450', 'score': 0.23}]
chr5 GH05I072499 72499327 72501709 0.31 [{'connected_gene': 'FCHO2', 'score': 4.21}, {'connected_gene': 'ZNF366', 'score': 0.44}, {'connected_gene': 'GC05P072450', 'score': 0.25}]
chr5 GH05I072543 72543113 72544078 0.2 [{'connected_gene': 'FCHO2', 'score': 3.94}, {'connected_gene': 'LOC102503427', 'score': 0.39}, {'connected_gene': 'ZNF366', 'score': 0.28}]
chr5 GH05I072541 72541299 72541505 0.56 [{'connected_gene': 'FCHO2', 'score': 3.94}, {'connected_gene': 'LOC102503427', 'score': 0.37}, {'connected_gene': 'ZNF366', 'score': 0.29}]
chr5 GH05I072618 72618067 72619936 0.68 [{'connected_gene': 'FCHO2', 'score': 4.53}, {'connected_gene': 'GC05M072590', 'score': 0.31}, {'connected_gene': 'GC05M072615', 'score': 0.29}, {'connected_gene': 'LINC02056', 'score': 0.26}]
chr5 GH05I072869 72869968 72873578 0.38 [{'connected_gene': 'FCHO2', 'score': 14.44}, {'connected_gene': 'ENSG00000249085', 'score': 11.87}, {'connected_gene': 'GC05P072869', 'score': 0.77}, {'connected_gene': 'MIR4804', 'score': 0.44}, {'connected_gene': 'TNPO1', 'score': 0.22}]
chr5 GH05I072940 72940001 72940470 0.8 [{'connected_gene': 'FCHO2', 'score': 22.14}, {'connected_gene': 'ENSG00000249085', 'score': 9.53}, {'connected_gene': 'GC05M072921', 'score': 0.39}, {'connected_gene': 'ENSG00000271926', 'score': 0.39}]
chr5 GH05I072951 72951436 72952999 0.74 [{'connected_gene': 'FCHO2', 'score': 15.74}, {'connected_gene': 'ENSG00000271926', 'score': 0.77}, {'connected_gene': 'GC05M072921', 'score': 0.34}]
chr5 GH05I072788 72788381 72789578 0.38 [{'connected_gene': 'FCHO2', 'score': 7.13}, {'connected_gene': 'ENSG00000206770', 'score': 0.34}, {'connected_gene': 'GC05M072783', 'score': 0.31}]
chr5 GH05I072953 72953157 72958001 2.28 [{'connected_gene': 'FCHO2', 'score': 565.96}, {'connected_gene': 'ENSG00000272081', 'score': 559.33}, {'connected_gene': 'ENSG00000271926', 'score': 550.77}, {'connected_gene': 'ENSG00000249085', 'score': 9.43}]
chr5 GH05I072959 72959201 72959400 0.31 [{'connected_gene': 'FCHO2', 'score': 0.77}, {'connected_gene': 'GC05M072986', 'score': 0.31}]
chr5 GH05I073495 73495575 73500671 2.08 [{'connected_gene': 'BTF3', 'score': 557.69}, {'connected_gene': 'ENSG00000272525', 'score': 556.4}, {'connected_gene': 'ANKRA2', 'score': 20.52}, {'connected_gene': 'UTP15', 'score': 10.61}, {'connected_gene': 'FCHO2', 'score': 10.22}, {'connected_gene': 'GC05M073449', 'score': 0.34}]
chr5 GH05I073387 73387304 73388714 1.01 [{'connected_gene': 'BTF3', 'score': 15.86}, {'connected_gene': 'TNPO1', 'score': 14.28}, {'connected_gene': 'ANKRA2', 'score': 13.06}, {'connected_gene': 'FCHO2', 'score': 11.61}, {'connected_gene': 'UTP15', 'score': 10.48}, {'connected_gene': 'GC05P073385', 'score': 0.77}, {'connected_gene': 'ENSG00000249149', 'score': 0.44}, {'connected_gene': 'FOXD1-AS1', 'score': 0.22}]
chr5 GH05I072596 72596012 72606428 1.7 [{'connected_gene': 'ENSG00000272081', 'score': 7.15}, {'connected_gene': 'MAP1B', 'score': 6.72}, {'connected_gene': 'ENSG00000249085', 'score': 4.24}, {'connected_gene': 'FCHO2', 'score': 4.11}, {'connected_gene': 'GC05M072590', 'score': 0.39}, {'connected_gene': 'GC05M072615', 'score': 0.23}, {'connected_gene': 'LINC02056', 'score': 0.22}]
chr5 GH05I072815 72815021 72819690 2.05 [{'connected_gene': 'ENSG00000249085', 'score': 564.01}, {'connected_gene': 'GC05M072783', 'score': 550.77}, {'connected_gene': 'TNPO1', 'score': 550.77}, {'connected_gene': 'UTP15', 'score': 14.06}, {'connected_gene': 'FCHO2', 'score': 13.89}, {'connected_gene': 'ANKRA2', 'score': 11.75}, {'connected_gene': 'RPL7P22', 'score': 10.77}, {'connected_gene': 'MRPS27', 'score': 10.2}, {'connected_gene': 'ENSG00000272081', 'score': 6.17}, {'connected_gene': 'GC05P072869', 'score': 0.23}]
chr5 GH05I072840 72840905 72844904 1.53 [{'connected_gene': 'ENSG00000249085', 'score': 23.58}, {'connected_gene': 'FCHO2', 'score': 14.38}, {'connected_gene': 'TNPO1', 'score': 13.88}, {'connected_gene': 'ARHGEF28', 'score': 4.46}, {'connected_gene': 'GC05P072869', 'score': 0.31}]
chr5 GH05I072652 72652168 72653499 0.59 [{'connected_gene': 'GC05M072615', 'score': 550.77}, {'connected_gene': 'FCHO2', 'score': 6.98}, {'connected_gene': 'LINC02056', 'score': 0.44}]
chr5 GH05I072937 72937601 72938599 0.79 [{'connected_gene': 'ENSG00000272081', 'score': 7.87}, {'connected_gene': 'FCHO2', 'score': 3.59}, {'connected_gene': 'GC05M072921', 'score': 0.39}, {'connected_gene': 'ENSG00000271926', 'score': 0.37}]

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