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
ENST00000556794 [[74398203, 74399181], [74402651, 74402791], [74404304, 74404404], [74404650, 74404797]] [[74399135, 74399181], [74402651, 74402791], [74404304, 74404404], [74404650, 74404797]]
ENST00000286544 [[74399212, 74401097], [74402651, 74402791], [74404304, 74404404], [74404650, 74404815], [74407628, 74407756], [74409071, 74409418], [74411037, 74411588], [74412988, 74413308], [74416675, 74417117]] [[74400958, 74401097], [74402651, 74402791], [74404304, 74404404], [74404650, 74404815], [74407628, 74407756], [74409071, 74409418], [74411037, 74411588], [74412988, 74413308], [74416675, 74416918]]
ENST00000534936 [[74400704, 74401097], [74402651, 74402791], [74404304, 74404404], [74404650, 74404815], [74407628, 74407756], [74409071, 74409418], [74411037, 74411588], [74412988, 74413308], [74416675, 74416835]] [[74400958, 74401097], [74402651, 74402791], [74404304, 74404404], [74404650, 74404815], [74407628, 74407756], [74409071, 74409418], [74411037, 74411588], [74412988, 74413308], [74416675, 74416729]]
NM_152445 [[74399694, 74401097], [74402651, 74402791], [74404304, 74404404], [74404650, 74404815], [74407628, 74407756], [74409071, 74409418], [74411037, 74411588], [74412988, 74413308], [74416675, 74417117]] [[74400958, 74401097], [74402651, 74402791], [74404304, 74404404], [74404650, 74404815], [74407628, 74407756], [74409071, 74409418], [74411037, 74411588], [74412988, 74413308], [74416675, 74416918]]
Promoter
Chrom Start End Description
chr14 74416753 74416775 CAGE_peak_3_at_FAM161B_5end
chr14 74416778 74416827 CAGE_peak_1_at_FAM161B_5end
chr14 74416829 74416851 CAGE_peak_2_at_FAM161B_5end
chr14 74417096 74417108 CAGE_peak_5_at_FAM161B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I073673 73673963 73674076 0.34 [{'connected_gene': 'PNMA1', 'score': 11.47}, {'connected_gene': 'FAM161B', 'score': 1.33}, {'connected_gene': 'RNU6-240P', 'score': 0.39}, {'connected_gene': 'DNAL1', 'score': 0.31}, {'connected_gene': 'ENSG00000258660', 'score': 0.31}]
chr14 GH14I073914 73913298 73913447 0.2 [{'connected_gene': 'ZNF410', 'score': 11.88}, {'connected_gene': 'COQ6', 'score': 11.78}, {'connected_gene': 'FAM161B', 'score': 11.78}, {'connected_gene': 'ENSG00000223300', 'score': 10.32}, {'connected_gene': 'PTGR2', 'score': 10.31}, {'connected_gene': 'ENSG00000199472', 'score': 0.44}, {'connected_gene': 'ENSG00000258891', 'score': 0.34}, {'connected_gene': 'ENSG00000258653', 'score': 0.21}]
chr14 GH14I073913 73913498 73913647 0.2 [{'connected_gene': 'ZNF410', 'score': 11.88}, {'connected_gene': 'COQ6', 'score': 11.78}, {'connected_gene': 'FAM161B', 'score': 11.78}, {'connected_gene': 'ENSG00000223300', 'score': 10.32}, {'connected_gene': 'PTGR2', 'score': 10.31}, {'connected_gene': 'ENSG00000199472', 'score': 0.44}, {'connected_gene': 'ENSG00000258891', 'score': 0.34}, {'connected_gene': 'ENSG00000258653', 'score': 0.21}]
chr14 GH14I073949 73949296 73951373 2.05 [{'connected_gene': 'COQ6', 'score': 550.77}, {'connected_gene': 'FAM161B', 'score': 550.77}, {'connected_gene': 'LOC100506476', 'score': 41.94}, {'connected_gene': 'PTGR2', 'score': 27.67}, {'connected_gene': 'ENTPD5', 'score': 6.15}, {'connected_gene': 'GC14M073922', 'score': 0.44}]
chr14 GH14I074027 74027930 74029273 0.57 [{'connected_gene': 'FAM161B', 'score': 16.82}, {'connected_gene': 'LIN52', 'score': 11.14}, {'connected_gene': 'ALDH6A1', 'score': 11.14}, {'connected_gene': 'COQ6', 'score': 11.04}, {'connected_gene': 'LINC02274', 'score': 10.04}, {'connected_gene': 'ENTPD5', 'score': 6.3}, {'connected_gene': 'BBOF1', 'score': 0.44}, {'connected_gene': 'GC14P074048', 'score': 0.34}]
chr14 GH14I073100 73100198 73100446 0.4 [{'connected_gene': 'FAM161B', 'score': 4.41}, {'connected_gene': 'GC14M073069', 'score': 0.37}, {'connected_gene': 'GC14P073124', 'score': 0.34}, {'connected_gene': 'RBM25', 'score': 0.26}]
chr14 GH14I073994 73994254 74000427 1.08 [{'connected_gene': 'PTGR2', 'score': 28.31}, {'connected_gene': 'LIN52', 'score': 16.64}, {'connected_gene': 'LOC100506476', 'score': 15.3}, {'connected_gene': 'COQ6', 'score': 11.58}, {'connected_gene': 'FAM161B', 'score': 11.58}, {'connected_gene': 'ALDH6A1', 'score': 10.13}, {'connected_gene': 'ENSG00000223300', 'score': 9.78}, {'connected_gene': 'ENTPD5', 'score': 6.15}, {'connected_gene': 'BBOF1', 'score': 5.44}, {'connected_gene': 'RPL41P4', 'score': 0.44}, {'connected_gene': 'GC14M073963', 'score': 0.29}]
chr14 GH14I073908 73908791 73910524 0.31 [{'connected_gene': 'PTGR2', 'score': 41.88}, {'connected_gene': 'COQ6', 'score': 11.63}, {'connected_gene': 'FAM161B', 'score': 11.63}, {'connected_gene': 'ZNF410', 'score': 11.61}, {'connected_gene': 'ENSG00000223300', 'score': 10.75}, {'connected_gene': 'LIN52', 'score': 9.55}, {'connected_gene': 'ALDH6A1', 'score': 9.55}, {'connected_gene': 'ENSG00000199472', 'score': 0.77}, {'connected_gene': 'ENSG00000258891', 'score': 0.31}, {'connected_gene': 'ENSG00000258653', 'score': 0.22}]
chr14 GH14I073928 73928747 73930339 0.2 [{'connected_gene': 'PTGR2', 'score': 29.03}, {'connected_gene': 'FAM161B', 'score': 20.11}, {'connected_gene': 'LOC100506476', 'score': 18.92}, {'connected_gene': 'COQ6', 'score': 12.45}, {'connected_gene': 'ALDH6A1', 'score': 10.65}, {'connected_gene': 'LIN52', 'score': 10.65}, {'connected_gene': 'ENSG00000223300', 'score': 10.53}, {'connected_gene': 'ENTPD5', 'score': 6.1}, {'connected_gene': 'ENSG00000258891', 'score': 0.44}, {'connected_gene': 'ENSG00000199472', 'score': 0.34}, {'connected_gene': 'GC14M073922', 'score': 0.31}, {'connected_gene': 'ZNF410', 'score': 0.26}, {'connected_gene': 'ENSG00000258653', 'score': 0.18}]
chr14 GH14I073944 73944850 73945760 0.49 [{'connected_gene': 'PTGR2', 'score': 29.81}, {'connected_gene': 'LOC100506476', 'score': 13.84}, {'connected_gene': 'LIN52', 'score': 9.52}, {'connected_gene': 'ALDH6A1', 'score': 9.52}, {'connected_gene': 'COQ6', 'score': 0.77}, {'connected_gene': 'ENSG00000258891', 'score': 0.44}, {'connected_gene': 'FAM161B', 'score': 0.44}, {'connected_gene': 'GC14M073922', 'score': 0.39}]
chr14 GH14I073942 73942330 73944202 0.86 [{'connected_gene': 'PTGR2', 'score': 29.4}, {'connected_gene': 'LOC100506476', 'score': 19.5}, {'connected_gene': 'LIN52', 'score': 9.51}, {'connected_gene': 'ALDH6A1', 'score': 9.51}, {'connected_gene': 'LINC02274', 'score': 8.88}, {'connected_gene': 'ENTPD5', 'score': 6.17}, {'connected_gene': 'COQ6', 'score': 0.44}, {'connected_gene': 'ENSG00000258891', 'score': 0.44}, {'connected_gene': 'FAM161B', 'score': 0.44}, {'connected_gene': 'GC14M073922', 'score': 0.39}]
chr14 GH14I073849 73849846 73853324 2.05 [{'connected_gene': 'PTGR2', 'score': 582.13}, {'connected_gene': 'ENSG00000258653', 'score': 550.77}, {'connected_gene': 'LOC100506476', 'score': 40.83}, {'connected_gene': 'ZNF410', 'score': 11.24}, {'connected_gene': 'PNMA1', 'score': 10.84}, {'connected_gene': 'ENTPD5', 'score': 5.36}, {'connected_gene': 'FAM161B', 'score': 5.36}, {'connected_gene': 'ENSG00000270576', 'score': 0.39}]
chr14 GH14I073922 73922402 73924086 0.2 [{'connected_gene': 'PTGR2', 'score': 40.66}, {'connected_gene': 'LOC100506476', 'score': 19.41}, {'connected_gene': 'COQ6', 'score': 11.79}, {'connected_gene': 'FAM161B', 'score': 11.79}, {'connected_gene': 'ZNF410', 'score': 11.07}, {'connected_gene': 'ENSG00000223300', 'score': 10.49}, {'connected_gene': 'LIN52', 'score': 10.11}, {'connected_gene': 'ALDH6A1', 'score': 10.11}, {'connected_gene': 'ENSG00000258891', 'score': 0.39}, {'connected_gene': 'ENSG00000199472', 'score': 0.37}, {'connected_gene': 'GC14M073922', 'score': 0.29}, {'connected_gene': 'ENSG00000258653', 'score': 0.19}]
chr14 GH14I073160 73160898 73165091 0.65 [{'connected_gene': 'RNU6-419P', 'score': 11.08}, {'connected_gene': 'LOC101928123', 'score': 10.98}, {'connected_gene': 'PSEN1', 'score': 7.19}, {'connected_gene': 'FAM161B', 'score': 4.41}, {'connected_gene': 'ENSG00000259109', 'score': 0.31}]
chr14 GH14I074217 74217564 74218428 1 [{'connected_gene': 'LOC105370564', 'score': 550.77}, {'connected_gene': 'LIN52', 'score': 10.69}, {'connected_gene': 'ALDH6A1', 'score': 10.69}, {'connected_gene': 'SYNDIG1L', 'score': 9.3}, {'connected_gene': 'PTGR2', 'score': 6.12}, {'connected_gene': 'FAM161B', 'score': 5.8}, {'connected_gene': 'ACOT2', 'score': 5.15}, {'connected_gene': 'VSX2', 'score': 0.34}, {'connected_gene': 'GC14M074212', 'score': 0.06}]
chr14 GH14I073930 73930758 73932690 0.2 [{'connected_gene': 'LOC100506476', 'score': 19.54}, {'connected_gene': 'LIN52', 'score': 16.75}, {'connected_gene': 'PTGR2', 'score': 16.7}, {'connected_gene': 'ALDH6A1', 'score': 10.65}, {'connected_gene': 'ENSG00000223300', 'score': 10.53}, {'connected_gene': 'FAM161B', 'score': 6.36}, {'connected_gene': 'ENSG00000258891', 'score': 0.44}, {'connected_gene': 'GC14M073922', 'score': 0.34}, {'connected_gene': 'ENSG00000199472', 'score': 0.31}, {'connected_gene': 'ZNF410', 'score': 0.25}, {'connected_gene': 'ENSG00000258653', 'score': 0.18}]
chr14 GH14I073836 73836469 73837321 1 [{'connected_gene': 'LOC100506476', 'score': 5.59}, {'connected_gene': 'FAM161B', 'score': 4.88}, {'connected_gene': 'ENSG00000270576', 'score': 0.77}, {'connected_gene': 'LINC02274', 'score': 0.44}]
chr14 GH14I073977 73977497 73978607 0.46 [{'connected_gene': 'LOC100506476', 'score': 18.77}, {'connected_gene': 'PTGR2', 'score': 18.32}, {'connected_gene': 'COQ6', 'score': 11.86}, {'connected_gene': 'FAM161B', 'score': 11.86}, {'connected_gene': 'LIN52', 'score': 4.62}, {'connected_gene': 'GC14M073963', 'score': 0.39}, {'connected_gene': 'RPL41P4', 'score': 0.31}, {'connected_gene': 'ENTPD5', 'score': 0.26}]
chr14 GH14I073832 73832678 73834701 0.97 [{'connected_gene': 'LOC100506476', 'score': 42.72}, {'connected_gene': 'PTGR2', 'score': 19.53}, {'connected_gene': 'LINC02274', 'score': 15.91}, {'connected_gene': 'FAM161B', 'score': 4.9}, {'connected_gene': 'ENSG00000270576', 'score': 0.44}]
chr14 GH14I073414 73414342 73415818 0.82 [{'connected_gene': 'ENSG00000258944', 'score': 14.08}, {'connected_gene': 'ACOT1', 'score': 8.44}, {'connected_gene': 'DNAL1', 'score': 6.57}, {'connected_gene': 'NT5CP2', 'score': 5.97}, {'connected_gene': 'NUMB', 'score': 4.86}, {'connected_gene': 'FAM161B', 'score': 4.18}, {'connected_gene': 'GC14P073395', 'score': 0.37}, {'connected_gene': 'ENSG00000251393', 'score': 0.25}]
chr14 GH14I073885 73885303 73889645 2.28 [{'connected_gene': 'ENSG00000273711', 'score': 550.77}, {'connected_gene': 'PIR36223', 'score': 550.77}, {'connected_gene': 'ZNF410', 'score': 550.77}, {'connected_gene': 'PTGR2', 'score': 42.07}, {'connected_gene': 'LOC100506476', 'score': 18.56}, {'connected_gene': 'ENSG00000223300', 'score': 10.95}, {'connected_gene': 'DCAF4', 'score': 9.86}, {'connected_gene': 'PNMA1', 'score': 9.66}, {'connected_gene': 'FAM161B', 'score': 6.14}, {'connected_gene': 'LIN52', 'score': 6.0}, {'connected_gene': 'ENSG00000270140', 'score': 0.37}, {'connected_gene': 'ENSG00000258653', 'score': 0.28}]
chr14 GH14I073767 73767602 73775476 1.72 [{'connected_gene': 'ENSG00000258559', 'score': 50.22}, {'connected_gene': 'YLPM1', 'score': 47.91}, {'connected_gene': 'RBM25', 'score': 33.53}, {'connected_gene': 'NT5CP1', 'score': 32.66}, {'connected_gene': 'PNMA1', 'score': 21.3}, {'connected_gene': 'PTGR2', 'score': 16.45}, {'connected_gene': 'LOC100506476', 'score': 15.43}, {'connected_gene': 'LIN52', 'score': 14.46}, {'connected_gene': 'DNAL1', 'score': 12.33}, {'connected_gene': 'ABCD4', 'score': 11.82}, {'connected_gene': 'ENSG00000223300', 'score': 11.03}, {'connected_gene': 'ENSG00000258443', 'score': 10.02}, {'connected_gene': 'FAM161B', 'score': 9.96}, {'connected_gene': 'ELMSAN1', 'score': 8.92}, {'connected_gene': 'LINC02274', 'score': 8.49}, {'connected_gene': 'ACOT1', 'score': 5.12}, {'connected_gene': 'ENTPD5', 'score': 4.46}, {'connected_gene': 'RIOX1', 'score': 3.09}, {'connected_gene': 'ZNF410', 'score': 2.27}, {'connected_gene': 'COQ6', 'score': 1.93}, {'connected_gene': 'GC14M073765', 'score': 0.44}, {'connected_gene': 'MIR4505', 'score': 0.39}]

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